#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
AHNAK	79026	broad.mit.edu	37	11	62287998	62287998	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr11:62287998C>A	ENST00000378024.4	-	5	14165	c.13891G>T	c.(13891-13893)Gac>Tac	p.D4631Y	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4631			D -> G (in dbSNP:rs12801123).	RD -> KG (in Ref. 4; AAA69898). {ECO:0000305}.	protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ACTTTGGGGTCCCTGATGTCA	0.522																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(13891-13893)Gac>Tac		AHNAK nucleoprotein							130.0	132.0	131.0					11																	62287998		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62287998C>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.13891G>T	11.37:g.62287998C>A	ENSP00000367263:p.Asp4631Tyr					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.D4631Y	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	14165	-		Melanoma(852;0.155)	4631	RD -> KG (in Ref. 2; AAA69898).	D -> G (in dbSNP:rs12801123).			A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.13891G>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.507338	0.00984	.	.	ENSG00000124942	ENST00000378024	T	0.00892	5.57	5.16	4.23	0.50019	.	0.061993	0.64402	D	0.000004	T	0.00784	0.0026	N	0.08118	0	0.09310	N	1	B	0.27286	0.174	B	0.22601	0.04	T	0.52586	-0.8556	10	0.45353	T	0.12	-6.6323	14.6769	0.68986	0.1466:0.8534:0.0:0.0	.	4631	Q09666	AHNK_HUMAN	Y	4631	ENSP00000367263:D4631Y	ENSP00000367263:D4631Y	D	-	1	0	AHNAK	62044574	.	.	0.013000	0.15412	0.001000	0.01503	.	.	1.159000	0.42565	0.638000	0.83543	GAC		0.522	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		100	338	1	0	2.6645e-62	0.139131	3.34771e-62	100	338				
LGI1	9211	broad.mit.edu	37	10	95557106	95557106	+	Missense_Mutation	SNP	G	G	A	rs201376381	byFrequency	TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr10:95557106G>A	ENST00000371418.4	+	8	1480	c.1220G>A	c.(1219-1221)cGt>cAt	p.R407H	LGI1_ENST00000542308.1_Missense_Mutation_p.R359H|LGI1_ENST00000371413.3_Intron	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	407					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)|positive regulation of cell growth (GO:0030307)|positive regulation of synaptic transmission (GO:0050806)|protein homooligomerization (GO:0051260)	cell junction (GO:0030054)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|synapse (GO:0045202)	receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				AGTTCCCAGCGTCCTGTAATT	0.433													G|||	2	0.000399361	0.0	0.0	5008	,	,		20760	0.002		0.0	False		,,,				2504	0.0					ENST00000371418.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29						c.(1219-1221)cGt>cAt		leucine-rich, glioma inactivated 1							107.0	95.0	99.0					10																	95557106		2203	4300	6503	SO:0001583	missense	9211				axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding	g.chr10:95557106G>A	AF055636	CCDS7431.1	10q24	2008-08-01	2002-06-05		ENSG00000108231	ENSG00000108231			6572	protein-coding gene	gene with protein product		604619	"""epilepsy, partial"""	EPT		9879993, 11978770, 15079011	Standard	NM_005097		Approved	IB1099, ETL1, EPITEMPIN	uc001kjc.4	O95970	OTTHUMG00000018777	ENST00000371418.4:c.1220G>A	10.37:g.95557106G>A	ENSP00000360472:p.Arg407His					LGI1_ENST00000542308.1_Missense_Mutation_p.R359H|LGI1_ENST00000371413.3_Intron	p.R407H	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN			8	1480	+		Colorectal(252;0.124)	407					A8K0Z1|B4E1S0|Q5W001|Q5W002|Q8NI23|Q96LF5	Missense_Mutation	SNP	ENST00000371418.4	37	c.1220G>A	CCDS7431.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	11.31	1.601257	0.28534	.	.	ENSG00000108231	ENST00000542308;ENST00000371418	D;D	0.89939	-2.59;-2.59	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	D	0.87128	0.6100	L	0.56769	1.78	0.58432	D	0.999998	B;B	0.24920	0.054;0.114	B;B	0.30572	0.017;0.117	D	0.84314	0.0512	10	0.42905	T	0.14	-7.4477	12.725	0.57166	0.0782:0.0:0.9218:0.0	.	359;407	O95970-3;O95970	.;LGI1_HUMAN	H	359;407	ENSP00000440763:R359H;ENSP00000360472:R407H	ENSP00000360472:R407H	R	+	2	0	LGI1	95547096	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.491000	0.66887	2.567000	0.86603	0.655000	0.94253	CGT		0.433	LGI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049445.1	NM_005097		113	82	0	0	0	0.139131	0	113	82				
CMA1	1215	broad.mit.edu	37	14	24976583	24976583	+	Missense_Mutation	SNP	G	G	A	rs13306251	byFrequency	TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr14:24976583G>A	ENST00000250378.3	-	2	217	c.188C>T	c.(187-189)aCg>aTg	p.T63M	CMA1_ENST00000206446.4_Intron|RP11-80A15.1_ENST00000555109.1_Intron	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	63	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|cellular response to glucose stimulus (GO:0071333)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|interleukin-1 beta biosynthetic process (GO:0050720)|midbrain development (GO:0030901)|peptide metabolic process (GO:0006518)|positive regulation of angiogenesis (GO:0045766)|regulation of inflammatory response (GO:0050727)	extracellular region (GO:0005576)|intracellular (GO:0005622)	peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		ATGAGCAGCCGTCAGCACAAA	0.488													G|||	5	0.000998403	0.0	0.0	5008	,	,		19023	0.001		0.0	False		,,,				2504	0.0041					ENST00000250378.3																			0				kidney(1)|lung(8)|pancreas(1)|prostate(1)	11						c.(187-189)aCg>aTg		chymase 1, mast cell		G	MET/THR	0,4406		0,0,2203	132.0	126.0	128.0		188	5.0	1.0	14	dbSNP_121	128	1,8599	1.2+/-3.3	0,1,4299	no	missense	CMA1	NM_001836.2	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	63/248	24976583	1,13005	2203	4300	6503	SO:0001583	missense	1215				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr14:24976583G>A		CCDS9630.1	14q12	2012-08-30			ENSG00000092009	ENSG00000092009	3.4.21.39		2097	protein-coding gene	gene with protein product		118938				8468056	Standard	NM_001836		Approved		uc001wpp.1	P23946	OTTHUMG00000140181	ENST00000250378.3:c.188C>T	14.37:g.24976583G>A	ENSP00000250378:p.Thr63Met					RP11-80A15.1_ENST00000555109.1_Intron|CMA1_ENST00000206446.4_Intron	p.T63M	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0271)	2	217	-			63			Peptidase S1.		B5BUM8|Q16018|Q3SY36|Q3SY37|Q9UDH5	Missense_Mutation	SNP	ENST00000250378.3	37	c.188C>T	CCDS9630.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	18.63	3.666101	0.67700	0.0	1.16E-4	ENSG00000092009	ENST00000250378	D	0.81908	-1.55	5.01	5.01	0.66863	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.53938	D	0.000056	D	0.93239	0.7846	H	0.98199	4.17	0.80722	D	1	D	0.89917	1.0	P	0.58928	0.848	D	0.94940	0.8090	10	0.72032	D	0.01	.	14.0034	0.64446	0.0:0.0:1.0:0.0	rs13306251;rs13306251	63	P23946	CMA1_HUMAN	M	63	ENSP00000250378:T63M	ENSP00000250378:T63M	T	-	2	0	CMA1	24046423	0.998000	0.40836	0.955000	0.39395	0.773000	0.43773	3.381000	0.52455	2.766000	0.95052	0.655000	0.94253	ACG		0.488	CMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276535.2			83	163	0	0	0	0.139131	0	83	163				
NEBL	10529	broad.mit.edu	37	10	21097515	21097515	+	Silent	SNP	G	G	A	rs140245727	byFrequency	TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr10:21097515G>A	ENST00000377122.4	-	26	3081	c.2685C>T	c.(2683-2685)gaC>gaT	p.D895D	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	895	Linker.				cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CTGACCTGTCGTCTCCGAGAC	0.458													G|||	5	0.000998403	0.0038	0.0	5008	,	,		16098	0.0		0.0	False		,,,				2504	0.0					ENST00000377122.4																			0				NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(2683-2685)gaC>gaT		nebulette		G	,,	16,4390	23.3+/-48.9	0,16,2187	135.0	126.0	129.0		,2685,	-2.4	1.0	10	dbSNP_134	129	0,8600		0,0,4300	no	intron,coding-synonymous,intron	NEBL	NM_001173484.1,NM_006393.2,NM_213569.2	,,	0,16,6487	AA,AG,GG		0.0,0.3631,0.123	,,	,895/1015,	21097515	16,12990	2203	4300	6503	SO:0001819	synonymous_variant	10529				regulation of actin filament length		actin binding|structural constituent of muscle	g.chr10:21097515G>A	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.2685C>T	10.37:g.21097515G>A						NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	p.D895D	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN			26	3081	-			895			Linker.		B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Silent	SNP	ENST00000377122.4	37	c.2685C>T	CCDS7134.1																																																																																				0.458	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393		7	331	0	0	0	0.038147	0	7	331				
FYCO1	79443	broad.mit.edu	37	3	46014621	46014621	+	Silent	SNP	C	C	T	rs149291592	byFrequency	TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr3:46014621C>T	ENST00000296137.2	-	6	703	c.498G>A	c.(496-498)tcG>tcA	p.S166S	FYCO1_ENST00000535325.1_Silent_p.S166S	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	166	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CAAAGCCCCTCGACGCCAGGT	0.483																																						ENST00000296137.2																			0				NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54						c.(496-498)tcG>tcA		FYVE and coiled-coil domain containing 1		C		3,4403	6.2+/-15.9	0,3,2200	95.0	91.0	92.0		498	-7.8	0.0	3	dbSNP_134	92	0,8600		0,0,4300	no	coding-synonymous	FYCO1	NM_024513.2		0,3,6500	TT,TC,CC		0.0,0.0681,0.0231		166/1479	46014621	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	79443				transport	integral to membrane	metal ion binding|protein binding	g.chr3:46014621C>T	AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"""Zinc fingers, FYVE domain containing"""	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.498G>A	3.37:g.46014621C>T						FYCO1_ENST00000535325.1_Silent_p.S166S	p.S166S	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)	6	703	-			166			RUN.		B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Silent	SNP	ENST00000296137.2	37	c.498G>A	CCDS2734.1																																																																																				0.483	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	NM_024513		26	74	0	0	0	0.091800	0	26	74				
CNGA1	1259	broad.mit.edu	37	4	47938995	47938995	+	Missense_Mutation	SNP	T	T	A			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr4:47938995T>A	ENST00000514170.1	-	11	1835	c.1516A>T	c.(1516-1518)Att>Ttt	p.I506F	CNGA1_ENST00000420489.2_Missense_Mutation_p.I506F|CNGA1_ENST00000544810.1_Missense_Mutation_p.I506F|CNGA1_ENST00000402813.3_Missense_Mutation_p.I575F|CNGA1_ENST00000358519.4_Missense_Mutation_p.I506F			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	506					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TTCTTGCAAATATAATCTCCA	0.438																																						ENST00000402813.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						c.(1723-1725)Att>Ttt		cyclic nucleotide gated channel alpha 1							116.0	115.0	116.0					4																	47938995		2060	4242	6302	SO:0001583	missense	1259				response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity	g.chr4:47938995T>A	M84741	CCDS43226.1, CCDS47050.1	4p12	2013-02-14				ENSG00000198515		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2148	protein-coding gene	gene with protein product		123825		CNCG1, CNCG		7683629, 16382102	Standard	NM_000087		Approved	RCNC1, RCNCa, CNG1, RP49	uc003gxu.3	P29973		ENST00000514170.1:c.1516A>T	4.37:g.47938995T>A	ENSP00000426862:p.Ile506Phe					CNGA1_ENST00000358519.4_Missense_Mutation_p.I506F|CNGA1_ENST00000544810.1_Missense_Mutation_p.I506F|CNGA1_ENST00000420489.2_Missense_Mutation_p.I506F|CNGA1_ENST00000514170.1_Missense_Mutation_p.I506F	p.I575F			P29973	CNGA1_HUMAN			10	1865	-			506					A8K7K6|J3KPZ2|Q16279|Q16485|Q4W5E3	Missense_Mutation	SNP	ENST00000514170.1	37	c.1723A>T	CCDS43226.1	.	.	.	.	.	.	.	.	.	.	T	18.29	3.591787	0.66219	.	.	ENSG00000198515	ENST00000402813;ENST00000514170;ENST00000544810;ENST00000358519;ENST00000420489	D;D;D;D;D	0.98381	-4.9;-4.9;-4.9;-4.9;-4.9	4.91	4.91	0.64330	Cyclic nucleotide-binding, conserved site (1);Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.99357	0.9774	H	0.98089	4.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	D	0.98435	1.0584	10	0.87932	D	0	.	14.8629	0.70394	0.0:0.0:0.0:1.0	.	506;506	Q4W5E3;P29973	.;CNGA1_HUMAN	F	575;506;506;506;506	ENSP00000384264:I575F;ENSP00000426862:I506F;ENSP00000443401:I506F;ENSP00000351320:I506F;ENSP00000389881:I506F	ENSP00000351320:I506F	I	-	1	0	CNGA1	47633752	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.655000	0.83696	1.968000	0.57251	0.397000	0.26171	ATT		0.438	CNGA1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372070.2	NM_000087		16	283	0	0	0	0.160694	0	16	283				
AKNA	80709	broad.mit.edu	37	9	117139492	117139492	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr9:117139492T>C	ENST00000307564.4	-	3	756	c.595A>G	c.(595-597)Agg>Ggg	p.R199G	AKNA_ENST00000312033.3_Missense_Mutation_p.R199G|AKNA_ENST00000374088.3_Missense_Mutation_p.R199G|AKNA_ENST00000374075.5_Missense_Mutation_p.R118G|AKNA_ENST00000223791.3_5'Flank	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	199					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						CTCCAGGACCTTGCCGGGCTG	0.612																																						ENST00000307564.4																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						c.(595-597)Agg>Ggg		AT-hook transcription factor							103.0	90.0	94.0					9																	117139492		2203	4300	6503	SO:0001583	missense	80709				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr9:117139492T>C	AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.595A>G	9.37:g.117139492T>C	ENSP00000303769:p.Arg199Gly					AKNA_ENST00000312033.3_Missense_Mutation_p.R199G|AKNA_ENST00000374088.3_Missense_Mutation_p.R199G|AKNA_ENST00000374075.5_Missense_Mutation_p.R118G	p.R199G	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN			3	756	-			199					Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP	ENST00000307564.4	37	c.595A>G	CCDS6805.1	.	.	.	.	.	.	.	.	.	.	T	7.397	0.631943	0.14322	.	.	ENSG00000106948	ENST00000307564;ENST00000374088;ENST00000374075;ENST00000312033;ENST00000394574	T;T;T;T	0.37058	2.46;2.46;2.45;1.22	4.49	2.08	0.27032	.	0.171747	0.28312	N	0.015817	T	0.26159	0.0638	L	0.27053	0.805	0.22185	N	0.999309	B;P;P	0.50819	0.08;0.9;0.939	B;B;P	0.46076	0.059;0.307;0.503	T	0.08146	-1.0736	10	0.59425	D	0.04	-12.1987	6.4475	0.21885	0.0:0.2133:0.0:0.7867	.	199;199;118	Q7Z591-6;Q7Z591;Q7Z591-2	.;AKNA_HUMAN;.	G	199;199;118;199;199	ENSP00000303769:R199G;ENSP00000363201:R199G;ENSP00000363188:R118G;ENSP00000309222:R199G	ENSP00000303769:R199G	R	-	1	2	AKNA	116179313	0.000000	0.05858	0.280000	0.24747	0.160000	0.22226	0.423000	0.21313	0.675000	0.31264	0.379000	0.24179	AGG		0.612	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	NM_030767		87	61	0	0	0	0.139131	0	87	61				
PKHD1	5314	broad.mit.edu	37	6	51513908	51513908	+	Missense_Mutation	SNP	G	G	T			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr6:51513908G>T	ENST00000371117.3	-	62	11560	c.11285C>A	c.(11284-11286)cCa>cAa	p.P3762Q		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3762					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TACCAATTGTGGCTGCACTGG	0.413																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(11284-11286)cCa>cAa		polycystic kidney and hepatic disease 1 (autosomal recessive)							157.0	149.0	152.0					6																	51513908		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51513908G>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.11285C>A	6.37:g.51513908G>T	ENSP00000360158:p.Pro3762Gln						p.P3762Q	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			62	11560	-	Lung NSC(77;0.0605)		3762					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.11285C>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.220821	0.58560	.	.	ENSG00000170927	ENST00000371117	D	0.98732	-5.1	5.78	5.78	0.91487	.	0.000000	0.64402	D	0.000001	D	0.98991	0.9656	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99901	1.1161	10	0.87932	D	0	.	19.3545	0.94407	0.0:0.0:1.0:0.0	.	3762	P08F94	PKHD1_HUMAN	Q	3762	ENSP00000360158:P3762Q	ENSP00000360158:P3762Q	P	-	2	0	PKHD1	51621867	1.000000	0.71417	0.978000	0.43139	0.112000	0.19704	6.363000	0.73082	2.894000	0.99253	0.655000	0.94253	CCA		0.413	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		82	132	1	0	1.55521e-42	0.139131	1.85866e-42	82	132				
KLF11	8462	broad.mit.edu	37	2	10188340	10188340	+	Silent	SNP	G	G	T	rs201595721		TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr2:10188340G>T	ENST00000305883.1	+	3	1038	c.876G>T	c.(874-876)gtG>gtT	p.V292V	KLF11_ENST00000540845.1_Silent_p.V275V|KLF11_ENST00000535335.1_Silent_p.V275V	NM_003597.4	NP_003588.1	O14901	KLF11_HUMAN	Kruppel-like factor 11	292					apoptotic process (GO:0006915)|cellular response to peptide (GO:1901653)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		TGATCCCTGTGACTGGACAAA	0.537											OREG0014425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Melanoma(56;431 1507 23687 50789)	ENST00000535335.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(823-825)gtG>gtT		Kruppel-like factor 11							136.0	134.0	135.0					2																	10188340		2203	4300	6503	SO:0001819	synonymous_variant	8462				apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr2:10188340G>T	AF028008	CCDS1668.1, CCDS54333.1	2p25	2013-01-08	2004-11-29	2004-12-01	ENSG00000172059	ENSG00000172059		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	11811	protein-coding gene	gene with protein product		603301	"""TGFB inducible early growth response 2"""	TIEG2		9748269, 11087666	Standard	NM_001177716		Approved	Tieg3, MODY7	uc002raf.1	O14901	OTTHUMG00000119004	ENST00000305883.1:c.876G>T	2.37:g.10188340G>T			OREG0014425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	662	KLF11_ENST00000305883.1_Silent_p.V292V|KLF11_ENST00000540845.1_Silent_p.V275V	p.V275V	NM_001177718.1	NP_001171189.1	O14901	KLF11_HUMAN		Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)	3	1041	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		292					B4DZE7|Q9EPF4	Silent	SNP	ENST00000305883.1	37	c.825G>T	CCDS1668.1																																																																																				0.537	KLF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000239202.3	NM_003597		8	195	1	0	0.0381472	0.038147	0.038942	8	195				
PHF3	23469	broad.mit.edu	37	6	64356551	64356551	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr6:64356551A>G	ENST00000262043.3	+	2	435	c.95A>G	c.(94-96)gAg>gGg	p.E32G	PHF3_ENST00000393387.1_Missense_Mutation_p.E32G|PHF3_ENST00000509330.1_Missense_Mutation_p.E32G			Q92576	PHF3_HUMAN	PHD finger protein 3	32					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GAAGTCTGTGAGGATTTTAGT	0.393																																					GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3																			0				breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.(94-96)gAg>gGg		PHD finger protein 3							116.0	112.0	113.0					6																	64356551		2203	4300	6503	SO:0001583	missense	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64356551A>G	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.95A>G	6.37:g.64356551A>G	ENSP00000262043:p.Glu32Gly					PHF3_ENST00000393387.1_Missense_Mutation_p.E32G|PHF3_ENST00000509330.1_Missense_Mutation_p.E32G	p.E32G			Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		2	435	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		32					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	c.95A>G	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	A	16.51	3.143423	0.57044	.	.	ENSG00000118482	ENST00000262043;ENST00000509330;ENST00000393387	T;T;T	0.56275	1.83;0.47;1.83	5.73	5.73	0.89815	.	0.000000	0.37623	N	0.002001	T	0.63141	0.2486	L	0.59436	1.845	0.53688	D	0.999977	D;D	0.89917	0.993;1.0	D;D	0.80764	0.914;0.994	T	0.67983	-0.5529	10	0.87932	D	0	-17.5548	16.0225	0.80509	1.0:0.0:0.0:0.0	.	32;32	Q92576;D6R9X2	PHF3_HUMAN;.	G	32	ENSP00000262043:E32G;ENSP00000422841:E32G;ENSP00000377048:E32G	ENSP00000262043:E32G	E	+	2	0	PHF3	64414510	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.663000	0.91134	2.174000	0.68829	0.533000	0.62120	GAG		0.393	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			49	143	0	0	0	0.139131	0	49	143				
PAX6	5080	broad.mit.edu	37	11	31815341	31815341	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr11:31815341A>G	ENST00000379132.3	-	9	1055	c.775T>C	c.(775-777)Tct>Cct	p.S259P	PAX6_ENST00000379129.2_Missense_Mutation_p.S273P|PAX6_ENST00000379115.4_Missense_Mutation_p.S273P|PAX6_ENST00000241001.8_Missense_Mutation_p.S259P|PAX6_ENST00000379111.2_Missense_Mutation_p.S259P|PAX6_ENST00000379123.5_Missense_Mutation_p.S259P|PAX6_ENST00000379107.2_Missense_Mutation_p.S273P|PAX6_ENST00000419022.1_Missense_Mutation_p.S273P			P26367	PAX6_HUMAN	paired box 6	259					astrocyte differentiation (GO:0048708)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|cerebral cortex regionalization (GO:0021796)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|cornea development in camera-type eye (GO:0061303)|dorsal/ventral axis specification (GO:0009950)|embryonic camera-type eye morphogenesis (GO:0048596)|eye development (GO:0001654)|eye photoreceptor cell development (GO:0042462)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain-midbrain boundary formation (GO:0021905)|glucose homeostasis (GO:0042593)|hindbrain development (GO:0030902)|iris morphogenesis (GO:0061072)|keratinocyte differentiation (GO:0030216)|lacrimal gland development (GO:0032808)|lens development in camera-type eye (GO:0002088)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|neuron migration (GO:0001764)|oligodendrocyte cell fate specification (GO:0021778)|organ morphogenesis (GO:0009887)|pancreatic A cell development (GO:0003322)|pituitary gland development (GO:0021983)|positive regulation of cell fate specification (GO:0042660)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of gene expression (GO:0010628)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to organelle (GO:0033365)|protein ubiquitination (GO:0016567)|regulation of cell migration (GO:0030334)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitment (GO:0021918)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|salivary gland morphogenesis (GO:0007435)|signal transduction involved in regulation of gene expression (GO:0023019)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell differentiation (GO:0003309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					CTTCGATTAGAAAACCATACC	0.522									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation																													ENST00000419022.1																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35						c.(817-819)Tct>Cct		paired box 6							149.0	155.0	153.0					11																	31815341		2202	4299	6501	SO:0001583	missense	5080	Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation	Familial Cancer Database	WAGR syndrome	blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity	g.chr11:31815341A>G	AY707088	CCDS31451.1, CCDS31452.1	11p13	2014-09-17	2007-07-12		ENSG00000007372	ENSG00000007372		"""Paired boxes"", ""Homeoboxes / PRD class"""	8620	protein-coding gene	gene with protein product	"""aniridia, keratitis"""	607108	"""paired box gene 6 (aniridia, keratitis)"""	AN2		1302030	Standard	NM_001127612		Approved	D11S812E, AN, WAGR	uc021qfm.1	P26367	OTTHUMG00000041447	ENST00000379132.3:c.775T>C	11.37:g.31815341A>G	ENSP00000368427:p.Ser259Pro					PAX6_ENST00000379132.3_Missense_Mutation_p.S259P|PAX6_ENST00000379115.4_Missense_Mutation_p.S273P|PAX6_ENST00000379107.2_Missense_Mutation_p.S273P|PAX6_ENST00000379129.2_Missense_Mutation_p.S273P|PAX6_ENST00000379111.2_Missense_Mutation_p.S259P|PAX6_ENST00000241001.8_Missense_Mutation_p.S259P|PAX6_ENST00000379123.5_Missense_Mutation_p.S259P	p.S273P	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	P26367	PAX6_HUMAN			11	1285	-	Lung SC(675;0.225)		259					Q6N006|Q99413	Missense_Mutation	SNP	ENST00000379132.3	37	c.817T>C	CCDS31451.1	.	.	.	.	.	.	.	.	.	.	A	29.4	5.006874	0.93287	.	.	ENSG00000007372	ENST00000419022;ENST00000379132;ENST00000379129;ENST00000531633;ENST00000379107;ENST00000464174;ENST00000241001;ENST00000379115;ENST00000379111;ENST00000379123;ENST00000494377;ENST00000470027;ENST00000379109;ENST00000533333;ENST00000530373;ENST00000531910	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96300	-3.97;-3.97;-3.97;-3.97;-3.97;-3.97;-3.97;-3.97;-3.97;-3.97;-3.97;-3.97;-3.97;-3.97;-3.97;-3.97	5.94	5.94	0.96194	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.049202	0.85682	N	0.000000	D	0.97539	0.9194	L	0.60012	1.86	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98227	1.0481	10	0.66056	D	0.02	.	16.4002	0.83639	1.0:0.0:0.0:0.0	.	273;259	F1T0F8;P26367	.;PAX6_HUMAN	P	273;259;273;88;273;58;259;273;259;259;123;123;259;214;58;123	ENSP00000404100:S273P;ENSP00000368427:S259P;ENSP00000368424:S273P;ENSP00000451885:S88P;ENSP00000368401:S273P;ENSP00000431961:S58P;ENSP00000241001:S259P;ENSP00000368410:S273P;ENSP00000368406:S259P;ENSP00000368418:S259P;ENSP00000451901:S123P;ENSP00000450775:S123P;ENSP00000368403:S259P;ENSP00000451372:S214P;ENSP00000452202:S58P;ENSP00000452558:S123P	ENSP00000241001:S259P	S	-	1	0	PAX6	31771917	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.748000	0.91615	2.263000	0.75096	0.523000	0.50628	TCT		0.522	PAX6-008	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000099293.4	NM_001604		78	5	0	0	0	0.139131	0	78	5				
MAN2A2	4122	broad.mit.edu	37	15	91450665	91450665	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr15:91450665G>A	ENST00000559717.1	+	8	1595	c.1136G>A	c.(1135-1137)cGc>cAc	p.R379H	MAN2A2_ENST00000431652.2_5'UTR|MAN2A2_ENST00000360468.3_Missense_Mutation_p.R379H			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	379					cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CCTGGTGGGCGCATCAACTGC	0.567																																						ENST00000360468.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(1135-1137)cGc>cAc		mannosidase, alpha, class 2A, member 2							68.0	67.0	67.0					15																	91450665		2198	4298	6496	SO:0001583	missense	4122				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr15:91450665G>A	L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.1136G>A	15.37:g.91450665G>A	ENSP00000452948:p.Arg379His					MAN2A2_ENST00000431652.2_5'UTR|MAN2A2_ENST00000559717.1_Missense_Mutation_p.R379H	p.R379H	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	Lung(145;0.229)		7	1154	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		379					A6NH12|A8K1E8|Q13754	Missense_Mutation	SNP	ENST00000559717.1	37	c.1136G>A	CCDS32332.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.036754	0.93630	.	.	ENSG00000196547	ENST00000360468	T	0.23348	1.91	5.67	5.67	0.87782	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);	0.000000	0.85682	D	0.000000	T	0.58090	0.2098	M	0.90198	3.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.72625	0.978;0.975;0.978	T	0.58440	-0.7636	10	0.15499	T	0.54	-27.9461	19.8235	0.96607	0.0:0.0:1.0:0.0	.	49;379;379	B4DIK4;P49641-1;P49641	.;.;MA2A2_HUMAN	H	379	ENSP00000353655:R379H	ENSP00000353655:R379H	R	+	2	0	MAN2A2	89251669	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	9.776000	0.99001	2.696000	0.92011	0.456000	0.33151	CGC		0.567	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418246.5	NM_006122		5	184	0	0	0	0.014758	0	5	184				
STK3	6788	broad.mit.edu	37	8	99779474	99779474	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr8:99779474T>C	ENST00000419617.2	-	3	373	c.233A>G	c.(232-234)gAc>gGc	p.D78G	STK3_ENST00000523601.1_Missense_Mutation_p.D106G	NM_006281.3	NP_006272.2	Q13188	STK3_HUMAN	serine/threonine kinase 3	78	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell differentiation involved in embryonic placenta development (GO:0060706)|central nervous system development (GO:0007417)|endocardium development (GO:0003157)|hepatocyte apoptotic process (GO:0097284)|hippo signaling (GO:0035329)|intracellular signal transduction (GO:0035556)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of organ growth (GO:0046621)|neural tube formation (GO:0001841)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|primitive hemopoiesis (GO:0060215)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein dimerization activity (GO:0046983)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		TTCATACCTGTCACATTGCTG	0.313																																						ENST00000523601.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						c.(316-318)gAc>gGc		serine/threonine kinase 3							100.0	95.0	96.0					8																	99779474		1887	4153	6040	SO:0001583	missense	6788				apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity	g.chr8:99779474T>C	BC010640	CCDS47900.1, CCDS59108.1, CCDS75774.1	8q22.2	2011-05-24	2010-06-25		ENSG00000104375	ENSG00000104375			11406	protein-coding gene	gene with protein product		605030	"""serine/threonine kinase 3 (Ste20, yeast homolog)"""			8816758	Standard	NM_006281		Approved	MST2, KRS1	uc003yip.4	Q13188	OTTHUMG00000164651	ENST00000419617.2:c.233A>G	8.37:g.99779474T>C	ENSP00000390500:p.Asp78Gly					STK3_ENST00000419617.2_Missense_Mutation_p.D78G	p.D106G	NM_001256312.1	NP_001243241.1	Q13188	STK3_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)	5	716	-	Breast(36;2.4e-06)	Breast(495;0.106)	78			Protein kinase.		A8K722|B3KYA7|Q15445|Q15801|Q96FM6	Missense_Mutation	SNP	ENST00000419617.2	37	c.317A>G	CCDS47900.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.435220	0.83885	.	.	ENSG00000104375	ENST00000419617;ENST00000523601;ENST00000518165	T;T;T	0.14640	2.49;2.49;3.11	5.67	5.67	0.87782	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.24851	0.0603	L	0.41632	1.29	0.80722	D	1	B;B;P	0.49559	0.336;0.441;0.925	B;P;P	0.55713	0.282;0.556;0.782	T	0.00485	-1.1711	10	0.72032	D	0.01	.	15.9208	0.79570	0.0:0.0:0.0:1.0	.	78;78;106	E5RFQ9;Q13188;B3KYA7	.;STK3_HUMAN;.	G	78;106;78	ENSP00000390500:D78G;ENSP00000429744:D106G;ENSP00000428014:D78G	ENSP00000390500:D78G	D	-	2	0	STK3	99848650	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	7.997000	0.88414	2.155000	0.67459	0.459000	0.35465	GAC		0.313	STK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379635.1	NM_006281		54	60	0	0	0	0.139131	0	54	60				
ALMS1	7840	broad.mit.edu	37	2	73718168	73718168	+	Missense_Mutation	SNP	T	T	G			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr2:73718168T>G	ENST00000264448.6	+	10	9190	c.9079T>G	c.(9079-9081)Tgt>Ggt	p.C3027G	ALMS1_ENST00000409009.1_Missense_Mutation_p.C2985G|AC096546.1_ENST00000408160.1_RNA	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3027					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CCCAAATCACTGTACATTAGC	0.378																																						ENST00000264448.6																			0				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(9079-9081)Tgt>Ggt		Alstrom syndrome 1							101.0	95.0	97.0					2																	73718168		1958	4155	6113	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73718168T>G	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.9079T>G	2.37:g.73718168T>G	ENSP00000264448:p.Cys3027Gly					ALMS1_ENST00000409009.1_Missense_Mutation_p.C2985G	p.C3027G	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN			10	9190	+			3027					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.9079T>G	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	T	1.168	-0.641825	0.03531	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.05513	3.43;3.43	4.76	0.864	0.19068	.	0.741779	0.12597	N	0.455043	T	0.05456	0.0144	L	0.38175	1.15	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.08055	0.003;0.003;0.003	T	0.35151	-0.9800	10	0.59425	D	0.04	.	5.8187	0.18516	0.1623:0.0:0.3377:0.5	.	3027;2985;3027	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	G	2985;3027	ENSP00000386627:C2985G;ENSP00000264448:C3027G	ENSP00000264448:C3027G	C	+	1	0	ALMS1	73571676	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.271000	0.18626	0.144000	0.18951	-0.330000	0.08379	TGT		0.378	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		64	195	0	0	0	0.139131	0	64	195				
NAT8	9027	broad.mit.edu	37	2	73868641	73868641	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr2:73868641G>C	ENST00000272425.3	-	2	264	c.115C>G	c.(115-117)Ctg>Gtg	p.L39V		NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2			N-acetyltransferase 8 (GCN5-related, putative)											breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						GTTCGAGGCAGCTTCAGCAAT	0.622																																						ENST00000272425.3																			0				breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						c.(115-117)Ctg>Gtg		N-acetyltransferase 8 (GCN5-related, putative)							79.0	92.0	87.0					2																	73868641		2203	4300	6503	SO:0001583	missense	9027				gastrulation with mouth forming second|response to drug	integral to membrane	N-acetyltransferase activity	g.chr2:73868641G>C	AB013094	CCDS1926.1	2p13.2	2012-03-20	2008-09-24		ENSG00000144035	ENSG00000144035			18069	protein-coding gene	gene with protein product		606716	"""N-acetyltransferase 8"""			11397015, 9852678, 19011241	Standard	NM_003960		Approved	Hcml1, TSC501, GLA, ATase2	uc002sji.1	Q9UHE5	OTTHUMG00000129818	ENST00000272425.3:c.115C>G	2.37:g.73868641G>C	ENSP00000272425:p.Leu39Val						p.L39V	NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2	Q9UHE5	NAT8_HUMAN			2	264	-			39						Missense_Mutation	SNP	ENST00000272425.3	37	c.115C>G	CCDS1926.1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.331499	0.41297	.	.	ENSG00000144035	ENST00000272425	T	0.31247	1.5	3.86	2.98	0.34508	.	0.355166	0.26776	N	0.022556	T	0.33089	0.0851	M	0.78049	2.395	0.27379	N	0.955466	P	0.45594	0.862	P	0.44772	0.46	T	0.14420	-1.0473	10	0.22109	T	0.4	-9.145	5.9995	0.19513	0.1111:0.1948:0.6941:0.0	.	39	Q9UHE5	NAT8_HUMAN	V	39	ENSP00000272425:L39V	ENSP00000272425:L39V	L	-	1	2	NAT8	73722149	0.021000	0.18746	0.540000	0.28089	0.178000	0.23041	0.609000	0.24238	0.935000	0.37341	0.644000	0.83932	CTG		0.622	NAT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327854.1	NM_003960		63	209	0	0	0	0.139131	0	63	209				
C10orf53	282966	broad.mit.edu	37	10	50901834	50901834	+	Missense_Mutation	SNP	G	G	T			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr10:50901834G>T	ENST00000374111.3	+	2	124	c.112G>T	c.(112-114)Gat>Tat	p.D38Y	C10orf53_ENST00000374113.3_Missense_Mutation_p.D38Y|C10orf53_ENST00000535836.1_Missense_Mutation_p.D38Y|CHAT_ENST00000455728.2_Nonstop_Mutation_p.*546Y|C10orf53_ENST00000374112.3_Missense_Mutation_p.D38Y	NM_001042427.1	NP_001035892.1	Q8N6V4	CJ053_HUMAN	chromosome 10 open reading frame 53	38										endometrium(1)|lung(6)	7		all_neural(218;0.107)				GTTGGCCATAGATGGACATGA	0.463																																						ENST00000455728.2																			0				central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56						c.(1636-1638)taG>taT		choline O-acetyltransferase	Choline(DB00122)						151.0	137.0	142.0					10																	50901834		2203	4300	6503	SO:0001583	missense	1103				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50901834G>T	BC028127	CCDS31202.1, CCDS41521.1	10q11.23	2012-05-24			ENSG00000178645	ENSG00000178645			27421	protein-coding gene	gene with protein product						12477932	Standard	NM_182554		Approved	Em:AC069546.1	uc001jid.1	Q8N6V4	OTTHUMG00000018199	ENST00000374111.3:c.112G>T	10.37:g.50901834G>T	ENSP00000363225:p.Asp38Tyr					C10orf53_ENST00000374111.3_Missense_Mutation_p.D38Y|C10orf53_ENST00000374112.3_Missense_Mutation_p.D38Y|C10orf53_ENST00000374113.3_Missense_Mutation_p.D38Y|C10orf53_ENST00000535836.1_Missense_Mutation_p.D38Y	p.*546Y			P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	15	1748	+		all_neural(218;0.107)	0					A6NI81|A6NLE0|B9ZVK6	Nonstop_Mutation	SNP	ENST00000374111.3	37	c.1638G>T	CCDS41521.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.46|15.46	2.839894|2.839894	0.51057|0.51057	.|.	.|.	ENSG00000178645|ENSG00000070748	ENST00000374113;ENST00000374111;ENST00000374112;ENST00000535836|ENST00000455728	.|.	.|.	.|.	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	0.000000|.	0.53938|.	U|.	0.000046|.	T|.	0.76485|.	0.3994|.	M|M	0.74258|0.74258	2.255|2.255	0.52501|0.52501	D|D	0.999956|0.999956	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.87578|.	0.998;0.995;0.986|.	T|.	0.75563|.	-0.3274|.	9|.	0.72032|.	D|.	0.01|.	-20.5105|-20.5105	18.4094|18.4094	0.90546|0.90546	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	38;38;38|.	B9ZVK6;Q8N6V4-2;Q8N6V4|.	.;.;CJ053_HUMAN|.	Y|Y	38|546	.|.	ENSP00000363225:D38Y|.	D|X	+|+	1|3	0|2	C10orf53|CHAT	50571840|50571840	1.000000|1.000000	0.71417|0.71417	0.910000|0.910000	0.35882|0.35882	0.124000|0.124000	0.20399|0.20399	4.038000|4.038000	0.57318|0.57318	2.715000|2.715000	0.92844|0.92844	0.655000|0.655000	0.94253|0.94253	GAT|TAG		0.463	C10orf53-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048005.1	NM_182554		12	127	1	0	2.27111e-07	0.093190	2.52919e-07	12	127				
PCSK5	5125	broad.mit.edu	37	9	78965754	78965754	+	Silent	SNP	G	G	A	rs373655020		TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr9:78965754G>A	ENST00000545128.1	+	35	5434	c.4896G>A	c.(4894-4896)gcG>gcA	p.A1632A		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	1632	CRM (Cys-rich motif).				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GAAAAGGAGCGTTGAATTGTT	0.448													G|||	1	0.000199681	0.0	0.0	5008	,	,		18463	0.0		0.0	False		,,,				2504	0.001					ENST00000545128.1																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(4894-4896)gcG>gcA		proprotein convertase subtilisin/kexin type 5		G		1,1751		0,1,875	158.0	148.0	151.0		4896	-11.1	0.0	9		151	0,3982		0,0,1991	no	coding-synonymous	PCSK5	NM_001190482.1		0,1,2866	AA,AG,GG		0.0,0.0571,0.0174		1632/1861	78965754	1,5733	876	1991	2867	SO:0001819	synonymous_variant	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78965754G>A		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.4896G>A	9.37:g.78965754G>A							p.A1632A	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN			35	5434	+			797					F5H2G7|Q13527|Q96EP4	Silent	SNP	ENST00000545128.1	37	c.4896G>A	CCDS55320.1																																																																																				0.448	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				129	128	0	0	0	0.139131	0	129	128				
COL25A1	84570	broad.mit.edu	37	4	109765700	109765700	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr4:109765700C>T	ENST00000399132.1	-	30	2134	c.1604G>A	c.(1603-1605)gGt>gAt	p.G535D	COL25A1_ENST00000399127.1_Missense_Mutation_p.G508D|COL25A1_ENST00000399126.1_Missense_Mutation_p.G535D	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1											NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		gccatggggacctggtgggcc	0.433																																						ENST00000399132.1																			0				NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49						c.(1603-1605)gGt>gAt		collagen, type XXV, alpha 1							92.0	95.0	94.0					4																	109765700		1845	4100	5945	SO:0001583	missense	84570					collagen|extracellular space	beta-amyloid binding|heparin binding	g.chr4:109765700C>T	AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"""Collagens"""	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.1604G>A	4.37:g.109765700C>T	ENSP00000382083:p.Gly535Asp					COL25A1_ENST00000399126.1_Missense_Mutation_p.G535D|COL25A1_ENST00000399127.1_Missense_Mutation_p.G508D	p.G535D	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000173)	30	2134	-		Hepatocellular(203;0.217)	535						Missense_Mutation	SNP	ENST00000399132.1	37	c.1604G>A	CCDS43258.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.063361	0.55432	.	.	ENSG00000188517	ENST00000399132;ENST00000333642;ENST00000401873;ENST00000399127;ENST00000399126	D;D;D	0.99353	-5.77;-5.77;-5.14	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.99691	0.9883	H	0.98802	4.335	0.48632	D	0.999689	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.97332	0.9951	9	.	.	.	-4.9021	14.8207	0.70070	0.0:1.0:0.0:0.0	.	535;535	Q9BXS0-2;Q9BXS0	.;COPA1_HUMAN	D	535;537;516;508;535	ENSP00000382083:G535D;ENSP00000382078:G508D;ENSP00000382077:G535D	.	G	-	2	0	COL25A1	109985149	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.549000	0.53681	2.555000	0.86185	0.655000	0.94253	GGT		0.433	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	NM_032518		48	100	0	0	0	0.139131	0	48	100				
ETAA1	54465	broad.mit.edu	37	2	67631847	67631847	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr2:67631847A>G	ENST00000272342.5	+	5	2163	c.2033A>G	c.(2032-2034)aAc>aGc	p.N678S	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	678						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						GGAGCCAAAAACATGTTTGCT	0.363																																						ENST00000272342.5																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						c.(2032-2034)aAc>aGc		Ewing tumor-associated antigen 1							89.0	92.0	91.0					2																	67631847		2203	4299	6502	SO:0001583	missense	54465					cytoplasm|nucleus		g.chr2:67631847A>G	AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"""Ewing's tumor-associated antigen 1"""			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.2033A>G	2.37:g.67631847A>G	ENSP00000272342:p.Asn678Ser					ETAA1_ENST00000462772.1_Intron	p.N678S	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN			5	2163	+			678					Q05BT7|Q53SC4	Missense_Mutation	SNP	ENST00000272342.5	37	c.2033A>G	CCDS1882.1	.	.	.	.	.	.	.	.	.	.	A	4.379	0.069912	0.08436	.	.	ENSG00000143971	ENST00000272342	T	0.18960	2.18	5.37	-4.75	0.03239	.	0.459535	0.23286	N	0.049844	T	0.11196	0.0273	L	0.43152	1.355	0.09310	N	1	B	0.23377	0.084	B	0.18561	0.022	T	0.16571	-1.0398	10	0.27082	T	0.32	-7.1989	3.9982	0.09568	0.3544:0.1146:0.4189:0.112	.	678	Q9NY74	ETAA1_HUMAN	S	678	ENSP00000272342:N678S	ENSP00000272342:N678S	N	+	2	0	ETAA1	67485351	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.275000	0.18698	-0.413000	0.07507	-0.376000	0.06991	AAC		0.363	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251735.1	NM_019002		90	110	0	0	0	0.139131	0	90	110				
MMP19	4327	broad.mit.edu	37	12	56233333	56233333	+	Missense_Mutation	SNP	C	C	T	rs138516871		TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr12:56233333C>T	ENST00000322569.4	-	5	804	c.713G>A	c.(712-714)cGg>cAg	p.R238Q	MMP19_ENST00000548629.1_Missense_Mutation_p.R215Q|MMP19_ENST00000409200.3_Intron|MMP19_ENST00000547487.1_5'Flank|MMP19_ENST00000394182.1_5'Flank	NM_002429.4	NP_002420.1	Q99542	MMP19_HUMAN	matrix metallopeptidase 19	238					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|luteolysis (GO:0001554)|ovarian follicle development (GO:0001541)|ovulation from ovarian follicle (GO:0001542)|proteolysis (GO:0006508)|response to cAMP (GO:0051591)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26					Marimastat(DB00786)	AAAGTGGGGCCGGTAGCCCTC	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		17685	0.0		0.001	False		,,,				2504	0.0					ENST00000322569.4																			0				endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						c.(712-714)cGg>cAg		matrix metallopeptidase 19		C	GLN/ARG	0,4406		0,0,2203	56.0	50.0	52.0		713	0.7	0.9	12	dbSNP_134	52	1,8599	1.2+/-3.3	0,1,4299	no	missense	MMP19	NM_002429.4	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	238/509	56233333	1,13005	2203	4300	6503	SO:0001583	missense	4327				angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr12:56233333C>T	X92521	CCDS8895.1, CCDS61146.1	12q14	2005-08-08	2005-08-08			ENSG00000123342			7165	protein-coding gene	gene with protein product		601807	"""matrix metalloproteinase 19"""	MMP18		9232430	Standard	NM_002429		Approved	RASI-1	uc001sib.4	Q99542	OTTHUMG00000170216	ENST00000322569.4:c.713G>A	12.37:g.56233333C>T	ENSP00000313437:p.Arg238Gln					MMP19_ENST00000409200.3_Intron|MMP19_ENST00000548629.1_Missense_Mutation_p.R215Q	p.R238Q	NM_002429.4	NP_002420.1	Q99542	MMP19_HUMAN			5	804	-			238					B4E030|O15278|O95606|Q99580	Missense_Mutation	SNP	ENST00000322569.4	37	c.713G>A	CCDS8895.1	.	.	.	.	.	.	.	.	.	.	C	2.295	-0.361435	0.05103	0.0	1.16E-4	ENSG00000123342	ENST00000322569;ENST00000548629	T;T	0.20463	2.07;2.07	5.75	0.738	0.18319	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.567805	0.19712	N	0.107796	T	0.10294	0.0252	N	0.11560	0.145	0.38799	D	0.955158	B	0.20671	0.047	B	0.17979	0.02	T	0.23904	-1.0175	10	0.28530	T	0.3	.	10.457	0.44557	0.0:0.5528:0.0:0.4472	.	238	Q99542	MMP19_HUMAN	Q	238;215	ENSP00000313437:R238Q;ENSP00000446979:R215Q	ENSP00000313437:R238Q	R	-	2	0	MMP19	54519600	0.001000	0.12720	0.864000	0.33941	0.021000	0.10359	-0.077000	0.11394	-0.346000	0.08312	-1.462000	0.01023	CGG		0.617	MMP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408023.1	NM_002429		18	63	0	0	0	0.043863	0	18	63				
KIAA1407	57577	broad.mit.edu	37	3	113761686	113761686	+	Silent	SNP	C	C	T			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr3:113761686C>T	ENST00000295878.3	-	4	425	c.279G>A	c.(277-279)gaG>gaA	p.E93E	KIAA1407_ENST00000545063.1_5'UTR|KIAA1407_ENST00000480588.1_5'UTR	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	93										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						CATTGACCAGCTCCTGAGCTA	0.333																																						ENST00000295878.3																			0				endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						c.(277-279)gaG>gaA		KIAA1407							136.0	117.0	124.0					3																	113761686		2203	4300	6503	SO:0001819	synonymous_variant	57577							g.chr3:113761686C>T	AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.279G>A	3.37:g.113761686C>T						KIAA1407_ENST00000545063.1_5'UTR|KIAA1407_ENST00000480588.1_5'UTR	p.E93E	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN			4	425	-			93					B4DYL1|Q9P2E0	Silent	SNP	ENST00000295878.3	37	c.279G>A	CCDS2977.1																																																																																				0.333	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817		48	137	0	0	0	0.139131	0	48	137				
GBP3	2635	broad.mit.edu	37	1	89486247	89486247	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr1:89486247T>C	ENST00000370481.4	-	2	378	c.158A>G	c.(157-159)tAc>tGc	p.Y53C	Y_RNA_ENST00000365515.1_RNA|GBP3_ENST00000475853.2_5'UTR	NM_018284.2	NP_060754.2	Q8WXF7	ATLA1_HUMAN	guanylate binding protein 3	82					axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		GTTCATCAGGTAGGATTTTCC	0.517																																						ENST00000370481.4																			0				breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26						c.(157-159)tAc>tGc		guanylate binding protein 3							129.0	115.0	119.0					1																	89486247		2203	4300	6503	SO:0001583	missense	2635					integral to membrane	GTP binding|GTPase activity	g.chr1:89486247T>C	BC063819	CCDS717.2	1p22.2	2008-02-05			ENSG00000117226	ENSG00000117226			4184	protein-coding gene	gene with protein product		600413				7518790	Standard	NM_018284		Approved	FLJ10961	uc001dmt.3	Q9H0R5	OTTHUMG00000010616	ENST00000370481.4:c.158A>G	1.37:g.89486247T>C	ENSP00000359512:p.Tyr53Cys					GBP3_ENST00000475853.2_5'UTR	p.Y53C	NM_018284.2	NP_060754.2	Q9H0R5	GBP3_HUMAN		all cancers(265;0.0103)|Epithelial(280;0.0293)	2	378	-		Lung NSC(277;0.123)	53					A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Missense_Mutation	SNP	ENST00000370481.4	37	c.158A>G	CCDS717.2	.	.	.	.	.	.	.	.	.	.	T	16.73	3.205141	0.58234	.	.	ENSG00000117226	ENST00000370482;ENST00000370481;ENST00000235878	T;T	0.80214	-1.35;-1.35	3.04	3.04	0.35103	Guanylate-binding protein, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.90246	0.6950	H	0.97587	4.035	0.31877	N	0.619017	D	0.89917	1.0	D	0.97110	1.0	D	0.88069	0.2799	10	0.87932	D	0	.	9.4597	0.38776	0.0:0.0:0.0:1.0	.	53	Q9H0R5	GBP3_HUMAN	C	53	ENSP00000359512:Y53C;ENSP00000235878:Y53C	ENSP00000235878:Y53C	Y	-	2	0	GBP3	89258835	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.537000	0.67186	1.397000	0.46682	0.416000	0.27883	TAC		0.517	GBP3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313541.3	NM_018284		30	159	0	0	0	0.116897	0	30	159				
OSGIN1	29948	broad.mit.edu	37	16	83994303	83994303	+	Missense_Mutation	SNP	C	C	T	rs541053223	byFrequency	TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr16:83994303C>T	ENST00000343939.2	+	5	966	c.583C>T	c.(583-585)Cgg>Tgg	p.R195W	OSGIN1_ENST00000361711.3_Missense_Mutation_p.R112W|OSGIN1_ENST00000565123.1_Missense_Mutation_p.R112W|OSGIN1_ENST00000393306.1_Missense_Mutation_p.R112W			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	195					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065)		growth factor activity (GO:0008083)			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						CTGGAAGCACCGGAAGGAGCA	0.657																																						ENST00000343939.2																			0				autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(583-585)Cgg>Tgg		oxidative stress induced growth inhibitor 1							62.0	60.0	61.0					16																	83994303		2200	4300	6500	SO:0001583	missense	29948				cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity	g.chr16:83994303C>T	AY258066	CCDS10939.1	16q23.3	2010-11-23			ENSG00000140961	ENSG00000140961			30093	protein-coding gene	gene with protein product	"""bone marrow stromal cell-derived growth inhibitor"", ""pregnancy induced growth inhibitor"""	607975				11459809, 14570898	Standard	NM_182981		Approved	BDGI, OKL38	uc002fhc.3	Q9UJX0	OTTHUMG00000137640	ENST00000343939.2:c.583C>T	16.37:g.83994303C>T	ENSP00000343376:p.Arg195Trp					OSGIN1_ENST00000361711.3_Missense_Mutation_p.R112W|OSGIN1_ENST00000393306.1_Missense_Mutation_p.R112W|OSGIN1_ENST00000565123.1_Missense_Mutation_p.R112W	p.R195W			Q9UJX0	OSGI1_HUMAN			5	966	+			195					Q52M33|Q86UQ1|Q96S88|Q9BZ70	Missense_Mutation	SNP	ENST00000343939.2	37	c.583C>T		.	.	.	.	.	.	.	.	.	.	C	11.63	1.695028	0.30052	.	.	ENSG00000140961	ENST00000343939;ENST00000361711;ENST00000393306	T;T;T	0.23147	2.9;1.92;1.92	4.85	1.72	0.24424	.	0.329081	0.29466	N	0.012067	T	0.11153	0.0272	N	0.14661	0.345	0.22066	N	0.99938	P	0.44521	0.837	B	0.28232	0.087	T	0.11792	-1.0573	10	0.87932	D	0	-6.1699	11.0836	0.48074	0.1283:0.3326:0.5391:0.0	.	195	Q9UJX0	OSGI1_HUMAN	W	195;112;112	ENSP00000343376:R195W;ENSP00000355374:R112W;ENSP00000376983:R112W	ENSP00000343376:R195W	R	+	1	2	OSGIN1	82551804	0.176000	0.23096	0.398000	0.26321	0.290000	0.27261	0.629000	0.24538	0.092000	0.17331	0.491000	0.48974	CGG		0.657	OSGIN1-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000269081.1	NM_013370		21	101	0	0	0	0.069288	0	21	101				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			107	83	0	0	0	0.139131	0	107	83				
RPS6KA1	6195	broad.mit.edu	37	1	26898350	26898350	+	Missense_Mutation	SNP	G	G	T			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr1:26898350G>T	ENST00000374168.2	+	19	1917	c.1763G>T	c.(1762-1764)cGc>cTc	p.R588L	RPS6KA1_ENST00000531382.1_Missense_Mutation_p.R597L|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.R496L|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.R496L|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.R577L|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.R572L	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	588	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		GTGCTGAAGCGCCAGGGCTAC	0.627																																						ENST00000374168.2																			0				lung(1)	1						c.(1762-1764)cGc>cTc		ribosomal protein S6 kinase, 90kDa, polypeptide 1							47.0	41.0	43.0					1																	26898350		2203	4300	6503	SO:0001583	missense	6195				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:26898350G>T	BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"""ribosomal protein S6 kinase, 90kD, polypeptide 1"""			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.1763G>T	1.37:g.26898350G>T	ENSP00000363283:p.Arg588Leu					RPS6KA1_ENST00000374162.2_Missense_Mutation_p.R496L|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.R597L|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.R577L|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.R496L|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.R572L	p.R588L	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)	19	1917	+		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	588			Protein kinase 2.		A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Missense_Mutation	SNP	ENST00000374168.2	37	c.1763G>T	CCDS284.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.521994	0.85600	.	.	ENSG00000117676	ENST00000374168;ENST00000374166;ENST00000526792;ENST00000374162;ENST00000530003;ENST00000531382	T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02	5.16	5.16	0.70880	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.051329	0.85682	D	0.000000	T	0.58308	0.2113	L	0.47716	1.5	0.80722	D	1	P;P;D	0.62365	0.785;0.904;0.991	B;P;D	0.67900	0.145;0.455;0.954	T	0.60084	-0.7332	10	0.87932	D	0	.	17.8203	0.88648	0.0:0.0:1.0:0.0	.	572;597;588	B7Z2K7;Q15418-2;Q15418	.;.;KS6A1_HUMAN	L	588;577;496;496;572;597	ENSP00000363283:R588L;ENSP00000363281:R577L;ENSP00000431651:R496L;ENSP00000363277:R496L;ENSP00000432281:R572L;ENSP00000435412:R597L	ENSP00000363277:R496L	R	+	2	0	RPS6KA1	26770937	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.373000	0.66162	2.678000	0.91216	0.563000	0.77884	CGC		0.627	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011431.1	NM_002953		27	35	1	0	3.00307e-07	0.134883	3.27001e-07	27	35				
EPHA3	2042	broad.mit.edu	37	3	89448615	89448615	+	Nonsense_Mutation	SNP	G	G	T			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr3:89448615G>T	ENST00000336596.2	+	7	1804	c.1579G>T	c.(1579-1581)Gaa>Taa	p.E527*	EPHA3_ENST00000494014.1_Nonsense_Mutation_p.E527*|EPHA3_ENST00000452448.2_Nonsense_Mutation_p.E527*	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	527	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GTTTGAGTTTGAAACTAGTCC	0.448										TSP Lung(6;0.00050)																												ENST00000336596.2																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139						c.(1579-1581)Gaa>Taa		EPH receptor A3							103.0	95.0	98.0					3																	89448615		2203	4300	6503	SO:0001587	stop_gained	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89448615G>T	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.1579G>T	3.37:g.89448615G>T	ENSP00000337451:p.Glu527*	TSP Lung(6;0.00050)				EPHA3_ENST00000452448.2_Nonsense_Mutation_p.E527*|EPHA3_ENST00000494014.1_Nonsense_Mutation_p.E527*	p.E527*	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	7	1804	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	527			Fibronectin type-III 2.		Q9H2V3|Q9H2V4	Nonsense_Mutation	SNP	ENST00000336596.2	37	c.1579G>T	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.740576	0.89573	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4691	0.94956	0.0:0.0:1.0:0.0	.	.	.	.	X	527	.	.	E	+	1	0	EPHA3	89531305	1.000000	0.71417	1.000000	0.80357	0.276000	0.26787	8.062000	0.89475	2.607000	0.88179	0.563000	0.77884	GAA		0.448	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		30	92	1	0	1.57351e-24	0.064281	1.79307e-24	30	92				
ALKBH6	84964	broad.mit.edu	37	19	36501795	36501795	+	Splice_Site	SNP	C	C	T			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr19:36501795C>T	ENST00000252984.7	-	6	489		c.e6+1		SYNE4_ENST00000340477.5_5'Flank|SYNE4_ENST00000324444.3_5'Flank|AC002116.8_ENST00000473572.2_RNA|ALKBH6_ENST00000486389.1_Splice_Site|ALKBH6_ENST00000495116.2_Intron|ALKBH6_ENST00000485128.1_Splice_Site|ALKBH6_ENST00000378875.3_Splice_Site			Q3KRA9	ALKB6_HUMAN	alkB, alkylation repair homolog 6 (E. coli)							cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	9	all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TGTGTGGTTACCATGATGCCC	0.592																																						ENST00000486389.1																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	9						c.e4+1		alkB, alkylation repair homolog 6 (E. coli)							82.0	70.0	74.0					19																	36501795		2203	4300	6503	SO:0001630	splice_region_variant	84964					cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr19:36501795C>T	BM713594	CCDS12485.2, CCDS74342.1	19q13.12	2008-02-05			ENSG00000239382	ENSG00000239382		"""Alkylation repair homologs"""	28243	protein-coding gene	gene with protein product		613304				8889548	Standard	NM_032878		Approved	MGC15677	uc002ocv.1	Q3KRA9	OTTHUMG00000048137	ENST00000252984.7:c.336+1G>A	19.37:g.36501795C>T						ALKBH6_ENST00000252984.7_Splice_Site|ALKBH6_ENST00000378875.3_Splice_Site|ALKBH6_ENST00000485128.1_Splice_Site|ALKBH6_ENST00000495116.2_Intron|AC002116.8_ENST00000473572.2_RNA				Q3KRA9	ALKB6_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		4	1016	-	all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162)							A5LGM8|A6NLP1|A8MU96	Splice_Site	SNP	ENST00000252984.7	37			.	.	.	.	.	.	.	.	.	.	C	16.94	3.260818	0.59431	.	.	ENSG00000239382	ENST00000378875;ENST00000485128;ENST00000252984;ENST00000433672	.	.	.	4.95	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0258	0.64584	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ALKBH6	41193635	1.000000	0.71417	1.000000	0.80357	0.657000	0.38888	4.309000	0.59135	2.452000	0.82932	0.591000	0.81541	.		0.592	ALKBH6-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000109531.4	NM_032878	Intron	35	88	0	0	0	0.183431	0	35	88				
DPAGT1	1798	broad.mit.edu	37	11	118971495	118971495	+	Missense_Mutation	SNP	G	G	A	rs397515327		TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr11:118971495G>A	ENST00000409993.2	-	5	1892	c.341C>T	c.(340-342)gCg>gTg	p.A114V	DPAGT1_ENST00000432443.2_Missense_Mutation_p.A7V|DPAGT1_ENST00000445653.1_5'UTR|DPAGT1_ENST00000354202.4_Missense_Mutation_p.A114V			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	114					cellular protein metabolic process (GO:0044267)|dolichol biosynthetic process (GO:0019408)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|protein oligomerization (GO:0051259)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	phospho-N-acetylmuramoyl-pentapeptide-transferase activity (GO:0008963)|transferase activity, transferring glycosyl groups (GO:0016757)|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity (GO:0003975)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		TACATCATCCGCAAAGCCCAG	0.567											OREG0021396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000409993.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17						c.(340-342)gCg>gTg		dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)							72.0	65.0	67.0					11																	118971495		2200	4295	6495	SO:0001583	missense	1798				dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity	g.chr11:118971495G>A	Z82022	CCDS8411.1	11q23.3	2007-12-14			ENSG00000172269	ENSG00000172269	2.7.8.15		2995	protein-coding gene	gene with protein product		191350		DPAGT2, DPAGT		8244387	Standard	NM_001382		Approved	GPT, D11S366, DGPT, ALG7, CDG-Ij	uc001pvi.3	Q9H3H5	OTTHUMG00000153533	ENST00000409993.2:c.341C>T	11.37:g.118971495G>A	ENSP00000386597:p.Ala114Val		OREG0021396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1492	DPAGT1_ENST00000432443.2_Missense_Mutation_p.A7V|DPAGT1_ENST00000445653.1_5'UTR|DPAGT1_ENST00000354202.4_Missense_Mutation_p.A114V	p.A114V			Q9H3H5	GPT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)	5	1892	-	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	114					O15216|Q86WV9|Q9BWE6	Missense_Mutation	SNP	ENST00000409993.2	37	c.341C>T	CCDS8411.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.692412	0.88735	.	.	ENSG00000172269	ENST00000409993;ENST00000354202;ENST00000432443	D;D;D	0.92348	-3.02;-3.02;-3.02	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.87249	0.6130	L	0.32530	0.975	0.80722	D	1	P;B	0.41393	0.748;0.219	B;B	0.33890	0.172;0.09	D	0.88514	0.3091	10	0.54805	T	0.06	-32.643	18.1546	0.89687	0.0:0.0:1.0:0.0	.	7;114	E7EW40;Q9H3H5	.;GPT_HUMAN	V	114;114;7	ENSP00000386597:A114V;ENSP00000346142:A114V;ENSP00000404036:A7V	ENSP00000346142:A114V	A	-	2	0	DPAGT1	118476705	1.000000	0.71417	0.986000	0.45419	0.998000	0.95712	9.869000	0.99810	2.524000	0.85096	0.563000	0.77884	GCG		0.567	DPAGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331527.2	NM_001382		4	115	0	0	0	0.150653	0	4	115				
CSMD3	114788	broad.mit.edu	37	8	113988170	113988170	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr8:113988170T>C	ENST00000297405.5	-	7	1482	c.1238A>G	c.(1237-1239)gAc>gGc	p.D413G	CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Missense_Mutation_p.D413G|CSMD3_ENST00000343508.3_Missense_Mutation_p.D373G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	413						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGAGAGCCCGTCCTTGGACGT	0.478										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(1237-1239)gAc>gGc		CUB and Sushi multiple domains 3							198.0	176.0	184.0					8																	113988170		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113988170T>C	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.1238A>G	8.37:g.113988170T>C	ENSP00000297405:p.Asp413Gly	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Missense_Mutation_p.D413G|CSMD3_ENST00000343508.3_Missense_Mutation_p.D373G|CSMD3_ENST00000455883.2_Intron	p.D413G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			7	1482	-			413					Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.1238A>G	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	15.52	2.856491	0.51376	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000352409	T;T;T	0.19105	2.17;2.17;2.18	5.65	5.65	0.86999	.	0.239547	0.26525	N	0.023884	T	0.16642	0.0400	L	0.29908	0.895	0.32573	N	0.529489	B;B	0.25007	0.037;0.116	B;B	0.26969	0.021;0.075	T	0.11421	-1.0588	10	0.10902	T	0.67	.	16.0399	0.80667	0.0:0.0:0.0:1.0	.	413;373	Q7Z407;Q7Z407-2	CSMD3_HUMAN;.	G	373;413;413	ENSP00000345799:D373G;ENSP00000297405:D413G;ENSP00000343124:D413G	ENSP00000297405:D413G	D	-	2	0	CSMD3	114057346	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	3.719000	0.54926	2.371000	0.80710	0.533000	0.62120	GAC		0.478	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		73	265	0	0	0	0.139131	0	73	265				
ANKRD36	375248	broad.mit.edu	37	2	97875420	97875420	+	Missense_Mutation	SNP	T	T	G			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr2:97875420T>G	ENST00000461153.2	+	55	3512	c.3268T>G	c.(3268-3270)Tct>Gct	p.S1090A	ANKRD36_ENST00000420699.2_Missense_Mutation_p.S1090A			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	1090										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CTTTTCAGTGTCTTCTCGGAA	0.358																																						ENST00000420699.2																			0				endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(3268-3270)Tct>Gct		ankyrin repeat domain 36																																				SO:0001583	missense	375248							g.chr2:97875420T>G	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.3268T>G	2.37:g.97875420T>G	ENSP00000419530:p.Ser1090Ala					ANKRD36_ENST00000461153.2_Missense_Mutation_p.S1090A	p.S1090A	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN			55	3512	+			1090					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	ENST00000461153.2	37	c.3268T>G	CCDS54379.1	.	.	.	.	.	.	.	.	.	.	.	1.075	-0.668612	0.03403	.	.	ENSG00000135976	ENST00000461153;ENST00000420699	T;T	0.78126	-1.15;-1.15	0.186	-0.372	0.12520	.	.	.	.	.	T	0.61426	0.2346	L	0.34521	1.04	0.09310	N	1	B	0.13594	0.008	B	0.06405	0.002	T	0.47005	-0.9150	8	0.87932	D	0	.	.	.	.	.	1090	A6QL64	AN36A_HUMAN	A	1090	ENSP00000419530:S1090A;ENSP00000391950:S1090A	ENSP00000391950:S1090A	S	+	1	0	ANKRD36	97239147	0.046000	0.20272	0.016000	0.15963	0.016000	0.09150	1.231000	0.32624	-1.419000	0.02012	-1.446000	0.01064	TCT		0.358	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			14	95	0	0	0	0.043863	0	14	95				
TP53	7157	broad.mit.edu	37	17	7578550	7578550	+	Missense_Mutation	SNP	G	G	T			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr17:7578550G>T	ENST00000269305.4	-	5	569	c.380C>A	c.(379-381)tCc>tAc	p.S127Y	TP53_ENST00000413465.2_Missense_Mutation_p.S127Y|TP53_ENST00000359597.4_Missense_Mutation_p.S127Y|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.S127Y|TP53_ENST00000455263.2_Missense_Mutation_p.S127Y|TP53_ENST00000445888.2_Missense_Mutation_p.S127Y	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	127	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		S -> C (in a sporadic cancer; somatic mutation).|S -> F (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.S127F(23)|p.0?(8)|p.S127Y(8)|p.S127C(7)|p.Y126_K132delYSPALNK(6)|p.A129fs*20(3)|p.Y126_N131delYSPALN(3)|p.S34C(2)|p.P128fs*42(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.P13fs*18(1)|p.?(1)|p.S34F(1)|p.A36fs*20(1)|p.S127fs*42(1)|p.Y126fs*18(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GAGGGCAGGGGAGTACTGTAG	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		73	Substitution - Missense(41)|Deletion - In frame(10)|Deletion - Frameshift(9)|Whole gene deletion(8)|Insertion - Frameshift(4)|Unknown(1)	p.S127F(23)|p.0?(8)|p.S127Y(8)|p.S127C(7)|p.Y126_K132delYSPALNK(6)|p.A129fs*20(3)|p.Y126_N131delYSPALN(3)|p.S34C(2)|p.P128fs*42(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.P13fs*18(1)|p.?(1)|p.S34F(1)|p.A36fs*20(1)|p.S127fs*42(1)|p.Y126fs*18(1)	lung(13)|ovary(8)|upper_aerodigestive_tract(7)|large_intestine(6)|central_nervous_system(6)|skin(5)|NS(4)|prostate(4)|bone(4)|urinary_tract(3)|breast(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(2)|liver(2)|oesophagus(2)|biliary_tract(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(379-381)tCc>tAc	Other conserved DNA damage response genes	tumor protein p53							44.0	44.0	44.0					17																	7578550		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578550G>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.380C>A	17.37:g.7578550G>T	ENSP00000269305:p.Ser127Tyr	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Missense_Mutation_p.S127Y|TP53_ENST00000455263.2_Missense_Mutation_p.S127Y|TP53_ENST00000359597.4_Missense_Mutation_p.S127Y|TP53_ENST00000413465.2_Missense_Mutation_p.S127Y|TP53_ENST00000445888.2_Missense_Mutation_p.S127Y	p.S127Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	512	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	127		S -> C (in a sporadic cancer; somatic mutation).|S -> F (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.380C>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.276306	0.80580	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D;D	0.99940	-8.39;-8.39;-8.39;-8.39;-8.39;-8.39;-8.39;-8.39;-8.39	5.48	4.51	0.55191	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99933	0.9970	M	0.91038	3.17	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.995;1.0;1.0;1.0	D	0.95614	0.8675	10	0.87932	D	0	-30.2503	12.2742	0.54724	0.0828:0.0:0.9172:0.0	.	88;127;127;34;127;127;127	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Y	127;127;127;127;127;127;116;34;34;127;127	ENSP00000410739:S127Y;ENSP00000352610:S127Y;ENSP00000269305:S127Y;ENSP00000398846:S127Y;ENSP00000391127:S127Y;ENSP00000391478:S127Y;ENSP00000423862:S34Y;ENSP00000424104:S127Y;ENSP00000426252:S127Y	ENSP00000269305:S127Y	S	-	2	0	TP53	7519275	1.000000	0.71417	0.890000	0.34922	0.931000	0.56810	9.763000	0.98947	1.448000	0.47680	0.655000	0.94253	TCC		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		44	0	1	0	1.00001e-27	0.111260	1.16667e-27	44	0				
RINT1	60561	broad.mit.edu	37	7	105189063	105189063	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr7:105189063C>A	ENST00000257700.2	+	7	1133	c.902C>A	c.(901-903)tCt>tAt	p.S301Y		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	301	RINT1/TIP20. {ECO:0000255|PROSITE- ProRule:PRU00717}.				G2 DNA damage checkpoint (GO:0031572)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GCCTCCCCTTCTGTCATCCTG	0.443																																						ENST00000257700.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(901-903)tCt>tAt		RAD50 interactor 1							202.0	179.0	186.0					7																	105189063		2203	4300	6503	SO:0001583	missense	60561				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding	g.chr7:105189063C>A	AF317622	CCDS34726.1	7q22.2	2007-05-03			ENSG00000135249	ENSG00000135249			21876	protein-coding gene	gene with protein product		610089				11096100, 15029241	Standard	NM_021930		Approved	FLJ11785, RINT-1	uc003vda.1	Q6NUQ1	OTTHUMG00000157400	ENST00000257700.2:c.902C>A	7.37:g.105189063C>A	ENSP00000257700:p.Ser301Tyr						p.S301Y	NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN			7	1133	+			301			RINT1/TIP20.		Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	Missense_Mutation	SNP	ENST00000257700.2	37	c.902C>A	CCDS34726.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.741087	0.49151	.	.	ENSG00000135249	ENST00000257700	T	0.23754	1.89	5.93	4.94	0.65067	.	0.771403	0.13086	N	0.414903	T	0.19525	0.0469	N	0.22421	0.69	0.09310	N	1	B	0.30709	0.291	B	0.28232	0.087	T	0.11567	-1.0582	10	0.51188	T	0.08	-9.2702	13.5809	0.61903	0.0:0.8988:0.0:0.1012	.	301	Q6NUQ1	RINT1_HUMAN	Y	301	ENSP00000257700:S301Y	ENSP00000257700:S301Y	S	+	2	0	RINT1	104976299	0.031000	0.19500	0.907000	0.35723	0.851000	0.48451	3.154000	0.50693	2.805000	0.96524	0.650000	0.86243	TCT		0.443	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348686.1	NM_021930		98	347	1	0	9.15355e-43	0.139131	1.12131e-42	98	347				
ABCB10	23456	broad.mit.edu	37	1	229685030	229685030	+	Silent	SNP	C	C	G			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr1:229685030C>G	ENST00000344517.4	-	2	711	c.669G>C	c.(667-669)ctG>ctC	p.L223L	RNA5SP78_ENST00000364622.1_RNA	NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	223	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				CAGCACCACACAGAAACACGG	0.522																																						ENST00000344517.4																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31						c.(667-669)ctG>ctC		ATP-binding cassette, sub-family B (MDR/TAP), member 10							92.0	84.0	87.0					1																	229685030		2203	4300	6503	SO:0001819	synonymous_variant	23456					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity	g.chr1:229685030C>G	U18237	CCDS1580.1	1q32	2012-03-14			ENSG00000135776	ENSG00000135776		"""ATP binding cassette transporters / subfamily B"""	41	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family B member 10, mitochondrial"", ""ATP-binding cassette transporter 10"", ""ABC transporter 10 protein"", ""mitochondrial ATP-binding cassette 2"""	605454				7766993	Standard	NM_012089		Approved	EST20237, M-ABC2, MTABC2	uc001htp.4	Q9NRK6	OTTHUMG00000039471	ENST00000344517.4:c.669G>C	1.37:g.229685030C>G							p.L223L	NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN			2	711	-	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)	223			ABC transmembrane type-1.		Q13040|Q6P1Q8|Q9H3V0	Silent	SNP	ENST00000344517.4	37	c.669G>C	CCDS1580.1																																																																																				0.522	ABCB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095240.1	NM_012089		15	68	0	0	0	0.062417	0	15	68				
EIF2AK4	440275	broad.mit.edu	37	15	40258023	40258023	+	Silent	SNP	G	G	A			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr15:40258023G>A	ENST00000263791.5	+	8	1039	c.996G>A	c.(994-996)aaG>aaA	p.K332K	EIF2AK4_ENST00000382727.2_Silent_p.K332K|EIF2AK4_ENST00000559624.1_Silent_p.K332K	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	332	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		AAAAAGAGAAGATTGATAAGT	0.443																																						ENST00000263791.5																			0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40						c.(994-996)aaG>aaA		eukaryotic translation initiation factor 2 alpha kinase 4							107.0	99.0	102.0					15																	40258023		1922	4138	6060	SO:0001819	synonymous_variant	440275				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity	g.chr15:40258023G>A	AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.996G>A	15.37:g.40258023G>A						EIF2AK4_ENST00000559624.1_Silent_p.K332K|EIF2AK4_ENST00000382727.2_Silent_p.K332K	p.K332K	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)	8	1039	+		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)	332			Protein kinase 1.		C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Silent	SNP	ENST00000263791.5	37	c.996G>A	CCDS42016.1																																																																																				0.443	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1			37	115	0	0	0	0.069456	0	37	115				
ATRX	546	broad.mit.edu	37	X	76814313	76814313	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chrX:76814313G>A	ENST00000373344.5	-	29	6545	c.6331C>T	c.(6331-6333)Cga>Tga	p.R2111*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.R2073*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2111	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with MECP2.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.R2111*(1)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						ATAAATAATCGTCCTCTGAAA	0.274			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		2	Substitution - Nonsense(1)|Unknown(1)	p.R2111*(1)|p.?(1)	central_nervous_system(1)|bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(6331-6333)Cga>Tga		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						39.0	38.0	39.0					X																	76814313		2196	4289	6485	SO:0001587	stop_gained	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76814313G>A	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.6331C>T	X.37:g.76814313G>A	ENSP00000362441:p.Arg2111*					ATRX_ENST00000395603.3_Nonsense_Mutation_p.R2073*|ATRX_ENST00000480283.1_5'UTR	p.R2111*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			29	6545	-			2111			Helicase C-terminal.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	c.6331C>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	G	48	14.035345	0.99776	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	.	.	.	5.21	4.32	0.51571	.	0.000000	0.64402	U	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.8668	14.1053	0.65085	0.0:0.0:0.8484:0.1516	.	.	.	.	X	2111;2073	.	ENSP00000362441:R2111X	R	-	1	2	ATRX	76700969	1.000000	0.71417	0.973000	0.42090	0.646000	0.38490	6.379000	0.73154	0.914000	0.36822	0.600000	0.82982	CGA		0.274	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		69	1	0	0	0	0.139131	0	69	1				
PLEC	5339	broad.mit.edu	37	8	145007212	145007212	+	Missense_Mutation	SNP	C	C	T	rs201553684		TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr8:145007212C>T	ENST00000322810.4	-	14	2066	c.1897G>A	c.(1897-1899)Gtg>Atg	p.V633M	PLEC_ENST00000354958.2_Missense_Mutation_p.V474M|PLEC_ENST00000436759.2_Missense_Mutation_p.V523M|PLEC_ENST00000357649.2_Missense_Mutation_p.V500M|PLEC_ENST00000354589.3_Missense_Mutation_p.V496M|PLEC_ENST00000527096.1_Missense_Mutation_p.V519M|PLEC_ENST00000356346.3_Missense_Mutation_p.V482M|PLEC_ENST00000398774.2_Missense_Mutation_p.V464M|PLEC_ENST00000345136.3_Missense_Mutation_p.V496M	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	633	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGGGCCGCCACGCCTGCCTTC	0.662													c|||	1	0.000199681	0.0	0.0	5008	,	,		16270	0.001		0.0	False		,,,				2504	0.0					ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(1897-1899)Gtg>Atg		plectin							11.0	16.0	15.0					8																	145007212		2011	4158	6169	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:145007212C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.1897G>A	8.37:g.145007212C>T	ENSP00000323856:p.Val633Met					PLEC_ENST00000357649.2_Missense_Mutation_p.V500M|PLEC_ENST00000345136.3_Missense_Mutation_p.V496M|PLEC_ENST00000527096.1_Missense_Mutation_p.V519M|PLEC_ENST00000398774.2_Missense_Mutation_p.V464M|PLEC_ENST00000354589.3_Missense_Mutation_p.V496M|PLEC_ENST00000436759.2_Missense_Mutation_p.V523M|PLEC_ENST00000354958.2_Missense_Mutation_p.V474M|PLEC_ENST00000356346.3_Missense_Mutation_p.V482M	p.V633M	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			14	2066	-			633			Globular 1.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.1897G>A	CCDS43772.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	c	6.734	0.504162	0.12822	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096;ENST00000528025	T;T;T;T;T;T;T;T;T;D	0.90385	-1.08;-1.08;-1.12;-1.12;-1.1;-1.08;-1.08;-1.08;-1.08;-2.66	4.96	3.17	0.36434	.	0.216802	0.27618	N	0.018571	T	0.81283	0.4790	L	0.34521	1.04	0.20196	N	0.99993	P;P;P;P;P;P;P;P	0.49961	0.93;0.882;0.882;0.813;0.882;0.882;0.882;0.882	P;P;P;B;P;P;P;P	0.46299	0.511;0.511;0.511;0.313;0.511;0.511;0.511;0.511	T	0.74822	-0.3534	10	0.48119	T	0.1	.	6.3663	0.21457	0.1469:0.6898:0.0:0.1633	.	523;482;474;633;464;496;500;496	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	M	496;500;496;464;633;474;482;523;519;540	ENSP00000344848:V496M;ENSP00000350277:V500M;ENSP00000346602:V496M;ENSP00000381756:V464M;ENSP00000323856:V633M;ENSP00000347044:V474M;ENSP00000348702:V482M;ENSP00000388180:V523M;ENSP00000434583:V519M;ENSP00000437303:V540M	ENSP00000323856:V633M	V	-	1	0	PLEC	145079200	0.532000	0.26346	0.008000	0.14137	0.250000	0.25880	1.650000	0.37292	0.528000	0.28580	-0.131000	0.14894	GTG		0.662	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		3	4	0	0	0	0.069234	0	3	4				
MAP3K5	4217	broad.mit.edu	37	6	136932510	136932510	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr6:136932510T>C	ENST00000359015.4	-	18	2791	c.2431A>G	c.(2431-2433)Att>Gtt	p.I811V	MAP3K5_ENST00000355845.4_Missense_Mutation_p.I58V	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	811	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TAGGTATTAATCAACACATTG	0.368																																						ENST00000359015.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58						c.(2431-2433)Att>Gtt		mitogen-activated protein kinase kinase kinase 5							141.0	133.0	136.0					6																	136932510		2203	4300	6503	SO:0001583	missense	4217				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding	g.chr6:136932510T>C	U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.2431A>G	6.37:g.136932510T>C	ENSP00000351908:p.Ile811Val					MAP3K5_ENST00000355845.4_Missense_Mutation_p.I58V	p.I811V	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN		GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)	18	2791	-	Colorectal(23;0.24)		811			Protein kinase.		A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	ENST00000359015.4	37	c.2431A>G	CCDS5179.1	.	.	.	.	.	.	.	.	.	.	T	7.705	0.693965	0.15039	.	.	ENSG00000197442	ENST00000359015;ENST00000355845;ENST00000367768	T;T	0.67523	-0.27;-0.27	5.17	5.17	0.71159	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.044496	0.85682	D	0.000000	T	0.45935	0.1367	N	0.05199	-0.095	0.58432	D	0.99999	B;P	0.40794	0.022;0.729	B;P	0.61800	0.058;0.894	T	0.54316	-0.8312	10	0.02654	T	1	.	15.2864	0.73831	0.0:0.0:0.0:1.0	.	891;811	Q59GL6;Q99683	.;M3K5_HUMAN	V	811;58;891	ENSP00000351908:I811V;ENSP00000348104:I58V	ENSP00000348104:I58V	I	-	1	0	MAP3K5	136974203	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.676000	0.84012	2.065000	0.61736	0.454000	0.30748	ATT		0.368	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1			7	123	0	0	0	0.029380	0	7	123				
HECW2	57520	broad.mit.edu	37	2	197298053	197298053	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr2:197298053G>A	ENST00000260983.3	-	2	277	c.95C>T	c.(94-96)gCc>gTc	p.A32V		NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	32					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GCTCTGGGCGGCAAGGCTCTG	0.602																																						ENST00000260983.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						c.(94-96)gCc>gTc		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2							84.0	73.0	77.0					2																	197298053		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197298053G>A	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.95C>T	2.37:g.197298053G>A	ENSP00000260983:p.Ala32Val						p.A32V	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN			2	277	-			32					B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.95C>T	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.092258	0.36952	.	.	ENSG00000138411	ENST00000260983;ENST00000452031;ENST00000427457	T;T;T	0.35236	1.32;1.32;1.32	5.27	4.37	0.52481	.	0.344730	0.31134	N	0.008196	T	0.29620	0.0739	L	0.47716	1.5	0.27381	N	0.955422	P	0.35433	0.501	B	0.29785	0.107	T	0.15122	-1.0448	10	0.36615	T	0.2	.	12.9451	0.58367	0.0:0.0:0.7052:0.2948	.	32	Q9P2P5	HECW2_HUMAN	V	32	ENSP00000260983:A32V;ENSP00000409918:A32V;ENSP00000395770:A32V	ENSP00000260983:A32V	A	-	2	0	HECW2	197006298	0.946000	0.32159	0.017000	0.16124	0.614000	0.37383	4.479000	0.60236	1.407000	0.46875	0.561000	0.74099	GCC		0.602	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		5	231	0	0	0	0.014758	0	5	231				
KCNJ13	3769	broad.mit.edu	37	2	233633140	233633140	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr2:233633140A>G	ENST00000233826.3	-	3	983	c.844T>C	c.(844-846)Tgc>Cgc	p.C282R	KCNJ13_ENST00000409779.1_3'UTR|GIGYF2_ENST00000409196.3_Intron|KCNJ13_ENST00000410029.1_Missense_Mutation_p.C282R|GIGYF2_ENST00000373563.4_Intron|AC064852.4_ENST00000427571.1_RNA|GIGYF2_ENST00000409451.3_Intron|GIGYF2_ENST00000409480.1_Intron|GIGYF2_ENST00000373566.3_Intron|GIGYF2_ENST00000452341.2_Intron|GIGYF2_ENST00000409547.1_Intron	NM_002242.4	NP_002233.2	O60928	KCJ13_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 13	282					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	inward rectifier potassium channel activity (GO:0005242)			endometrium(3)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	9		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908)		Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617)		CTCCTTTGGCATATTTCTCCA	0.433																																						ENST00000233826.3																			0				endometrium(3)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	9						c.(844-846)Tgc>Cgc		potassium inwardly-rectifying channel, subfamily J, member 13							170.0	160.0	163.0					2																	233633140		2203	4300	6503	SO:0001583	missense	3769					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr2:233633140A>G	AJ006128	CCDS2498.1, CCDS54437.1	2q37	2014-01-28			ENSG00000115474	ENSG00000115474		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6259	protein-coding gene	gene with protein product		603208				9878260, 9620703, 16382105	Standard	NM_002242		Approved	Kir7.1, Kir1.4, LCA16	uc002vtp.3	O60928	OTTHUMG00000153292	ENST00000233826.3:c.844T>C	2.37:g.233633140A>G	ENSP00000233826:p.Cys282Arg					GIGYF2_ENST00000409196.3_Intron|GIGYF2_ENST00000373563.4_Intron|GIGYF2_ENST00000452341.2_Intron|KCNJ13_ENST00000409779.1_3'UTR|GIGYF2_ENST00000373566.3_Intron|GIGYF2_ENST00000409451.3_Intron|GIGYF2_ENST00000409480.1_Intron|KCNJ13_ENST00000410029.1_Missense_Mutation_p.C282R|GIGYF2_ENST00000409547.1_Intron	p.C282R	NM_002242.4	NP_002233.2	O60928	IRK13_HUMAN		Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617)	3	983	-		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908)	282					A0PGH1|O76023|Q53SA1|Q8N3Y4	Missense_Mutation	SNP	ENST00000233826.3	37	c.844T>C	CCDS2498.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.093290	0.76756	.	.	ENSG00000115474	ENST00000233826;ENST00000410029	D;D	0.91686	-2.89;-2.89	5.92	5.92	0.95590	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.170413	0.64402	D	0.000002	D	0.95733	0.8612	M	0.74389	2.26	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	D	0.96035	0.9020	10	0.72032	D	0.01	.	16.3631	0.83280	1.0:0.0:0.0:0.0	.	282	O60928	IRK13_HUMAN	R	282	ENSP00000233826:C282R;ENSP00000386251:C282R	ENSP00000233826:C282R	C	-	1	0	KCNJ13	233341384	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.300000	0.96151	2.266000	0.75297	0.533000	0.62120	TGC		0.433	KCNJ13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257036.1	NM_002242		131	120	0	0	0	0.139131	0	131	120				
C3orf52	79669	broad.mit.edu	37	3	111835572	111835572	+	3'UTR	DEL	G	G	-			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr3:111835572delG	ENST00000264848.5	+	0	792				C3orf52_ENST00000431717.2_Frame_Shift_Del_p.Q160fs|C3orf52_ENST00000430855.1_Intron|C3orf52_ENST00000467942.2_3'UTR	NM_024616.2	NP_078892	Q5BVD1	TTMP_HUMAN	chromosome 3 open reading frame 52							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						CTGTTTTGCAGAAAAGATTCT	0.458																																						ENST00000431717.2																			0				endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						c.(478-480)cafs		chromosome 3 open reading frame 52							100.0	92.0	95.0					3																	111835572		692	1591	2283	SO:0001624	3_prime_UTR_variant	79669					endoplasmic reticulum membrane|integral to membrane		g.chr3:111835572delG	AY830714	CCDS46887.1, CCDS54620.1	3q13.2	2006-01-30			ENSG00000114529	ENSG00000114529			26255	protein-coding gene	gene with protein product	"""TPA induced trans-membrane protein"""	611956				15737651	Standard	NM_024616		Approved	FLJ23186, TTMP	uc011bhs.2	Q5BVD1	OTTHUMG00000159230	ENST00000264848.5:c.*79G>-	3.37:g.111835572delG						C3orf52_ENST00000467942.2_3'UTR|C3orf52_ENST00000264848.5_3'UTR|C3orf52_ENST00000430855.1_Intron	p.Q160fs	NM_001171747.1	NP_001165218.1	Q5BVD1	TTMP_HUMAN			4	553	+			0					B4DNV2|B4E0Z2|Q96AJ4|Q9H5Q1	Frame_Shift_Del	DEL	ENST00000264848.5	37	c.480delG	CCDS46887.1																																																																																				0.458	C3orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353961.1	NM_024616		7	8						7	8	---	---	---	---
CCNB3P1	100131678	broad.mit.edu	37	5	26740947	26740949	+	lincRNA	DEL	TTT	TTT	-			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr5:26740947_26740949delTTT	ENST00000506032.1	-	0	125																											AATCttcttcttttttttttttt	0.478																																						ENST00000506032.1																			0																																																			0							g.chr5:26740947_26740949delTTT																													5.37:g.26740956_26740958delTTT														0	125	-									RNA	DEL	ENST00000506032.1	37																																																																																						0.478	CTD-2533K21.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000366541.1			2	4						2	4	---	---	---	---
LOC101927314	101927314	broad.mit.edu	37	6	98715362	98715377	+	lincRNA	DEL	TCCTTCCTTCCTTCCT	TCCTTCCTTCCTTCCT	-	rs71015446|rs59041540|rs564598409	byFrequency	TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr6:98715362_98715377delTCCTTCCTTCCTTCCT	ENST00000607823.1	+	0	352																											AAAGAttctctccttccttccttccttccttccttc	0.375														1266	0.252796	0.3275	0.2824	5008	,	,		15575	0.1488		0.2167	False		,,,				2504	0.2751					ENST00000607823.1																			0																																																			0							g.chr6:98715362_98715377delTCCTTCCTTCCTTCCT																													6.37:g.98715362_98715377delTCCTTCCTTCCTTCCT														0	352	+									RNA	DEL	ENST00000607823.1	37																																																																																						0.375	RP11-436D23.1-003	KNOWN	not_organism_supported|basic	lincRNA	lincRNA	OTTHUMT00000471318.1			3	5						3	5	---	---	---	---
MTERF1	7978	broad.mit.edu	37	7	91341460	91341461	+	IGR	INS	-	-	A	rs13246112		TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr7:91341460_91341461insA								CTB-111F10.1 (68633 upstream) : MTERF (158781 downstream)																							aaggaaggaaggaaagaaagaa	0.302																																						ENST00000454222.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr7:91341460_91341461insA																													7.37:g.91341460_91341461insA														0	159	-									RNA	INS		37																																																																																					0	0.302									2	4						2	4	---	---	---	---
MSANTD2	79684	broad.mit.edu	37	11	124672250	124672251	+	5'Flank	DEL	GT	GT	-	rs371423011|rs567199030|rs372695194|rs199814718|rs56701051|rs576439437		TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr11:124672250_124672251delGT	ENST00000374979.3	-	0	0				RP11-677M14.7_ENST00000499143.2_RNA|RP11-677M14.7_ENST00000529392.1_RNA|MSANTD2_ENST00000239614.4_5'Flank|MSANTD2_ENST00000524950.1_5'Flank			Q6P1R3	MSD2_HUMAN	Myb/SANT-like DNA-binding domain containing 2																		CCAAAGAGGGgtgtgtgtgtgt	0.46																																						ENST00000499143.2																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr11:124672250_124672251delGT	AK026995	CCDS8454.1, CCDS73408.1	11q24.2	2012-03-02	2012-03-02	2012-03-02	ENSG00000120458	ENSG00000120458			26266	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 61"""	C11orf61			Standard	NM_024631		Approved	FLJ23342	uc001qaz.1	Q6P1R3	OTTHUMG00000165931		11.37:g.124672260_124672261delGT	Exception_encountered					RP11-677M14.7_ENST00000529392.1_RNA								0	981	+								B3KRY6|Q9H042|Q9H5K8	RNA	DEL	ENST00000374979.3	37																																																																																						0.460	MSANTD2-002	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000387084.1	NM_024631		3	3						3	3	---	---	---	---
RP11-314D7.1	0	broad.mit.edu	37	12	73525130	73525130	+	RNA	DEL	A	A	-	rs200310491		TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr12:73525130delA	ENST00000551135.1	-	0	104																											accctgtctgaaaaaaaaaga	0.443																																						ENST00000551135.1																			0																																																			0							g.chr12:73525130delA																													12.37:g.73525130delA														0	104	-									RNA	DEL	ENST00000551135.1	37																																																																																						0.443	RP11-314D7.1-003	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000405358.1			3	6						3	6	---	---	---	---
DYNLL1	8655	broad.mit.edu	37	12	120935907	120935908	+	Frame_Shift_Ins	INS	-	-	TT	rs142458935		TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr12:120935907_120935908insTT	ENST00000392509.2	+	3	425_426	c.164_165insTT	c.(163-168)cattgcfs	p.C56fs	DYNLL1_ENST00000549989.1_Frame_Shift_Ins_p.C56fs|DYNLL1_ENST00000392508.2_Frame_Shift_Ins_p.C56fs|DYNLL1_ENST00000242577.6_Frame_Shift_Ins_p.C56fs|DYNLL1-AS1_ENST00000500741.2_RNA|DYNLL1_ENST00000548342.1_Frame_Shift_Ins_p.C56fs|DYNLL1_ENST00000552316.1_3'UTR|DYNLL1_ENST00000552870.1_Intron	NM_001037494.1	NP_001032583.1	P63167	DYL1_HUMAN	dynein, light chain, LC8-type 1	56					actin cytoskeleton organization (GO:0030036)|anatomical structure morphogenesis (GO:0009653)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|apoptotic process (GO:0006915)|female gamete generation (GO:0007292)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|regulation of transcription, DNA-templated (GO:0006355)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	motor activity (GO:0003774)|nitric-oxide synthase regulator activity (GO:0030235)					all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCCACCTGGCATTGCATCGTGG	0.426																																						ENST00000392509.2																			0											c.(163-165)ctgfs		dynein, light chain, LC8-type 1																																				SO:0001589	frameshift_variant	8655				actin cytoskeleton organization|activation of pro-apoptotic gene products|anatomical structure morphogenesis|female gamete generation|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|microtubule-based process|negative regulation of phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	centrosome|cytoplasmic dynein complex|cytosol|microtubule|mitochondrion|nucleus|plasma membrane	motor activity|protein binding	g.chr12:120935907_120935908insTT	U32944	CCDS9200.1	12q24.23	2013-05-30	2005-11-25	2005-11-25	ENSG00000088986	ENSG00000088986		"""Cytoplasmic dyneins"""	15476	protein-coding gene	gene with protein product		601562	"""dynein, cytoplasmic, light polypeptide 1"""	DNCL1		8628263, 8864115, 16260502	Standard	NM_001037494		Approved	hdlc1, DLC1, PIN, LC8, DLC8	uc001tym.3	P63167	OTTHUMG00000169368	ENST00000392509.2:c.165_166dupTT	12.37:g.120935908_120935909dupTT	ENSP00000376297:p.Cys56fs					DYNLL1_ENST00000392508.2_Frame_Shift_Ins_p.L55fs|DYNLL1_ENST00000242577.6_Frame_Shift_Ins_p.L55fs|DYNLL1_ENST00000552870.1_Intron|DYNLL1_ENST00000552316.1_3'UTR|DYNLL1_ENST00000548342.1_Frame_Shift_Ins_p.L55fs|DYNLL1_ENST00000549989.1_Frame_Shift_Ins_p.L55fs	p.L55fs	NM_001037494.1	NP_001032583.1	P63167	DYL1_HUMAN			3	425_426	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		55					Q15701	Frame_Shift_Ins	INS	ENST00000392509.2	37	c.164_165insTT	CCDS9200.1																																																																																				0.426	DYNLL1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403709.1	NM_003746		35	58						35	58	---	---	---	---
TPTE2P1	646405	broad.mit.edu	37	13	25525716	25525716	+	RNA	DEL	A	A	-	rs200495212	byFrequency	TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr13:25525716delA	ENST00000429698.1	-	0	282							Q5T6R2	TPT2L_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 1																		TGGAAGAAACAAAAAAAAGAA	0.383													AAAAAAA|AAAAAAAA|AAAAAAA|insertion	774	0.154553	0.1256	0.1571	5008	,	,		14949	0.2123		0.162	False		,,,				2504	0.1247					ENST00000429698.1																			0																																																			0							g.chr13:25525716delA			13q12.12-q12.13	2012-10-03			ENSG00000253771	ENSG00000253771			35196	pseudogene	pseudogene							Standard	NR_026730		Approved		uc010tdh.2	Q5T6R2	OTTHUMG00000016596		13.37:g.25525716delA														0	282	-								B3KST4|B4DMH9	RNA	DEL	ENST00000429698.1	37																																																																																						0.383	TPTE2P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000044206.1			6	3						6	3	---	---	---	---
GSE1	23199	broad.mit.edu	37	16	85682289	85682290	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr16:85682289_85682290insC	ENST00000253458.7	+	3	534_535	c.358_359insC	c.(358-360)accfs	p.T120fs	GSE1_ENST00000393243.1_Frame_Shift_Ins_p.T47fs|GSE1_ENST00000405402.2_Frame_Shift_Ins_p.T16fs	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	120								p.V123fs*2(1)									CGTGCCCAGCACCCCCCCCGTG	0.688																																						ENST00000253458.7																			1	Deletion - Frameshift(1)	p.V123fs*2(1)	ovary(1)								c.(358-360)cccfs		Gse1 coiled-coil protein																																				SO:0001589	frameshift_variant	23199							g.chr16:85682289_85682290insC	D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149			28979	protein-coding gene	gene with protein product	"""genetic suppressor element 1"""		"""KIAA0182"", ""Gse1 coiled-coil protein homolog (mouse)"""	KIAA0182		8724849, 8786132	Standard	NM_014615		Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.366dupC	16.37:g.85682297_85682297dupC	ENSP00000253458:p.Thr120fs					GSE1_ENST00000405402.2_Frame_Shift_Ins_p.P16fs|GSE1_ENST00000393243.1_Frame_Shift_Ins_p.P47fs	p.P120fs	NM_014615.2	NP_055430.1					3	534_535	+								D3DUM4|Q8IY61|Q96GA4|Q9BW09	Frame_Shift_Ins	INS	ENST00000253458.7	37	c.358_359insC	CCDS10952.1																																																																																				0.688	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325527.1	NM_014615		8	197						8	197	---	---	---	---
IRS4	8471	broad.mit.edu	37	X	107977802	107977803	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chrX:107977802_107977803insC	ENST00000372129.2	-	1	1848_1849	c.1772_1773insG	c.(1771-1773)ggcfs	p.G591fs	RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	591					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGAGCCTTTGCCCCCCCCAGA	0.545																																						ENST00000372129.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						c.(1771-1773)gaafs		insulin receptor substrate 4				32,3681		0,19,13,1569,524						4.0	0.4			181	25,6453		0,7,18,2347,1752	no	frameshift	IRS4	NM_003604.2		0,26,31,3916,2276	A1A1,A1R,A1,RR,R		0.3859,0.8618,0.5593				57,10134				SO:0001589	frameshift_variant	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107977802_107977803insC	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.1773dupG	X.37:g.107977810_107977810dupC	ENSP00000361202:p.Gly591fs						p.E591fs	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN			1	1848_1849	-			591						Frame_Shift_Ins	INS	ENST00000372129.2	37	c.1772_1773insG	CCDS14544.1																																																																																				0.545	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		8	421						8	421	---	---	---	---
