#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
AGPAT9	84803	broad.mit.edu	37	4	84465712	84465712	+	Silent	SNP	A	A	G			TCGA-DJ-A3UX-01A-11D-A22D-08	TCGA-DJ-A3UX-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2f3b1f6-fa92-4a30-a848-9715aac69165	c75cda3d-1d47-44d0-b1fd-f426f9062b15	g.chr4:84465712A>G	ENST00000395226.2	+	3	383	c.165A>G	c.(163-165)aaA>aaG	p.K55K	AGPAT9_ENST00000264409.4_Silent_p.K55K	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	55					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|regulation of TOR signaling (GO:0032006)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				GAATTGAAAAAGGAACCCCAA	0.343																																						uc003how.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13						c.(163-165)aaA>aaG		Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 9 (AGPAT9), transcript variant 1, mRNA.							193.0	208.0	203.0					4																	84465712		2203	4300	6503	SO:0001819	synonymous_variant	84803				phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr4:84465712A>G	AK055749	CCDS3606.1	4q21.23	2014-02-13	2008-01-29		ENSG00000138678	ENSG00000138678	2.3.1.15	"""1-acylglycerol-3-phosphate O-acyltransferases"""	28157	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, theta"""	610958	"""1-acylglycerol-3-phosphate O-acyltransferase 9 (lysophosphatidic acid acyltransferase, theta)"""			12975309	Standard	NM_001256421		Approved	MGC11324, LPAAT-theta, MAG1, HMFN0839	uc003how.4	Q53EU6	OTTHUMG00000130431	ENST00000395226.2:c.165A>G	4.37:g.84465712A>G						AGPAT9_uc003hox.3_Silent_p.K55K|AGPAT9_uc003hoy.3_Silent_p.K55K	p.K55K	NM_032717	NP_116106	Q53EU6	GPAT3_HUMAN			2	383	+		Hepatocellular(203;0.114)	55					Q68CJ4|Q6GPI6|Q96NA3	Silent	SNP	ENST00000395226.2	37	c.165A>G	CCDS3606.1																																																																																				0.343	AGPAT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252821.3	NM_032717		3	185	0	0	0	1	0	3	185				
EPPK1	83481	broad.mit.edu	37	8	144941254	144941254	+	Silent	SNP	G	G	A			TCGA-DJ-A3UX-01A-11D-A22D-08	TCGA-DJ-A3UX-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2f3b1f6-fa92-4a30-a848-9715aac69165	c75cda3d-1d47-44d0-b1fd-f426f9062b15	g.chr8:144941254G>A	ENST00000525985.1	-	2	6239	c.6168C>T	c.(6166-6168)gaC>gaT	p.D2056D				P58107	EPIPL_HUMAN	epiplakin 1	2056						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCGTGTTCGGGTCCACAAACC	0.587																																						uc003zaa.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(6166-6168)gaC>gaT		Homo sapiens epiplakin 1 (EPPK1), mRNA.							73.0	78.0	76.0					8																	144941254		2132	4241	6373	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144941254G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6168C>T	8.37:g.144941254G>A							p.D2056D	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		0	6181	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2056					Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.6168C>T																																																																																					0.587	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		3	76	0	0	0	1	0	3	76				
LTB4R	1241	broad.mit.edu	37	14	24785074	24785074	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A3UX-01A-11D-A22D-08	TCGA-DJ-A3UX-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2f3b1f6-fa92-4a30-a848-9715aac69165	c75cda3d-1d47-44d0-b1fd-f426f9062b15	g.chr14:24785074T>C	ENST00000396789.4	+	2	1942	c.217T>C	c.(217-219)Ttt>Ctt	p.F73L	LTB4R_ENST00000396782.2_Missense_Mutation_p.F73L|LTB4R_ENST00000345363.3_Missense_Mutation_p.F73L	NM_181657.3	NP_858043.1	Q15722	LT4R1_HUMAN	leukotriene B4 receptor	73					cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|muscle contraction (GO:0006936)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	leukotriene B4 receptor activity (GO:0001632)|leukotriene receptor activity (GO:0004974)|nucleotide binding (GO:0000166)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(265;0.018)		CACTGCTCCCTTTTTCCTTCA	0.582																																						uc001wos.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1)	8						c.(217-219)Ttt>Ctt		Homo sapiens leukotriene B4 receptor (LTB4R), transcript variant 2, mRNA.							183.0	163.0	170.0					14																	24785074		2203	4300	6503	SO:0001583	missense	1241				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction	integral to plasma membrane	nucleotide binding	g.chr14:24785074T>C	X98356	CCDS9626.1	14q11.2-q12	2012-08-10			ENSG00000213903	ENSG00000213903		"""GPCR / Class A : Leukotriene receptors"""	6713	protein-coding gene	gene with protein product		601531		P2RY7, GPR16, CMKRL1		8921391, 8702478	Standard	NM_181657		Approved	BLTR, P2Y7, LTB4R1	uc001wos.3	Q15722	OTTHUMG00000029346	ENST00000396789.4:c.217T>C	14.37:g.24785074T>C	ENSP00000380008:p.Phe73Leu					LTB4R_uc010alp.3_Missense_Mutation_p.F73L|LTB4R_uc001wou.3_Missense_Mutation_p.F73L|LTB4R_uc021rrq.1_Missense_Mutation_p.F73L	p.F73L	NM_001143919	NP_858043	Q15722	LT4R1_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	1	538	+			73					Q13305|Q53XV5|Q92641|Q9BSU5	Missense_Mutation	SNP	ENST00000396789.4	37	c.217T>C	CCDS9626.1	.	.	.	.	.	.	.	.	.	.	T	13.13	2.145293	0.37825	.	.	ENSG00000213903	ENST00000553481;ENST00000345363;ENST00000396789;ENST00000396782	T;T;T;T	0.37235	1.21;1.21;1.21;1.21	5.89	4.71	0.59529	GPCR, rhodopsin-like superfamily (1);	0.238062	0.36200	U	0.002721	T	0.27629	0.0679	L	0.37466	1.105	0.37507	D	0.917019	B	0.17465	0.022	B	0.17433	0.018	T	0.12142	-1.0559	10	0.20046	T	0.44	.	11.3543	0.49607	0.0:0.0:0.1521:0.8479	.	73	Q15722	LT4R1_HUMAN	L	73	ENSP00000450457:F73L;ENSP00000307445:F73L;ENSP00000380008:F73L;ENSP00000380002:F73L	ENSP00000307445:F73L	F	+	1	0	LTB4R	23854914	0.279000	0.24239	0.998000	0.56505	0.991000	0.79684	0.623000	0.24447	1.009000	0.39289	0.533000	0.62120	TTT		0.582	LTB4R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073198.4			3	193	0	0	0	1	0	3	193				
KSR1	8844	broad.mit.edu	37	17	25909679	25909679	+	Silent	SNP	G	G	A			TCGA-DJ-A3UX-01A-11D-A22D-08	TCGA-DJ-A3UX-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2f3b1f6-fa92-4a30-a848-9715aac69165	c75cda3d-1d47-44d0-b1fd-f426f9062b15	g.chr17:25909679G>A	ENST00000319524.6	+	4	528	c.528G>A	c.(526-528)gaG>gaA	p.E176E	KSR1_ENST00000268763.6_Silent_p.E39E|KSR1_ENST00000509603.2_Silent_p.E176E|KSR1_ENST00000398988.3_Silent_p.E39E			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	176					Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CAGGAGGGGAGCACAAGGAGG	0.612																																					Esophageal Squamous(88;1120 1336 6324 10502 16832)	uc010crg.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28						c.(115-117)gaG>gaA		Homo sapiens kinase suppressor of ras 1 (KSR1), mRNA.							39.0	42.0	41.0					17																	25909679		2000	4183	6183	SO:0001819	synonymous_variant	8844				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:25909679G>A	U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"""kinase suppressor of ras"""	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.528G>A	17.37:g.25909679G>A						KSR1_uc002gzj.1_Intron	p.E39E	NM_014238	NP_055053	Q8IVT5	KSR1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	4	562	+	Lung NSC(42;0.00836)		174					F8WEA9|H7BYU0|Q13476	Silent	SNP	ENST00000319524.6	37	c.117G>A																																																																																					0.612	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_014238		3	93	0	0	0	1	0	3	93				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A3UX-01A-11D-A22D-08	TCGA-DJ-A3UX-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2f3b1f6-fa92-4a30-a848-9715aac69165	c75cda3d-1d47-44d0-b1fd-f426f9062b15	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333	NP_004324	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		24	104	0	0	0	1	0	24	104				
HAPLN3	145864	broad.mit.edu	37	15	89424649	89424649	+	Silent	SNP	G	G	A			TCGA-DJ-A3UX-01A-11D-A22D-08	TCGA-DJ-A3UX-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2f3b1f6-fa92-4a30-a848-9715aac69165	c75cda3d-1d47-44d0-b1fd-f426f9062b15	g.chr15:89424649G>A	ENST00000359595.3	-	3	646	c.432C>T	c.(430-432)taC>taT	p.Y144Y	HAPLN3_ENST00000562889.1_Silent_p.Y206Y	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	144	Ig-like V-type. {ECO:0000305}.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)				Hyaluronan(DB08818)	CCTCACAGCGGTAACGCCCAT	0.617																																						uc002bnd.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17						c.(616-618)taC>taT		Homo sapiens hyaluronan and proteoglycan link protein 3 (HAPLN3), mRNA.							107.0	81.0	90.0					15																	89424649		2200	4299	6499	SO:0001819	synonymous_variant	145864				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr15:89424649G>A	AY262759	CCDS10346.1	15q26.1	2013-01-11			ENSG00000140511	ENSG00000140511		"""Immunoglobulin superfamily / V-set domain containing"""	21446	protein-coding gene	gene with protein product			"""extracellular link domain containing, 1"""	EXLD1		12663660	Standard	NM_178232		Approved	HsT19883	uc002bnc.3	Q96S86	OTTHUMG00000148680	ENST00000359595.3:c.432C>T	15.37:g.89424649G>A						HAPLN3_uc002bnc.3_Silent_p.Y144Y|HAPLN3_uc002bne.3_Non-coding_Transcript	p.Y206Y	NM_178232	NP_839946	Q96S86	HPLN3_HUMAN			3	699	-	Lung NSC(78;0.0392)|all_lung(78;0.077)		144			Link 1.		A8K7P0	Silent	SNP	ENST00000359595.3	37	c.618C>T	CCDS10346.1																																																																																				0.617	HAPLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309070.1	NM_178232		4	141	0	0	0	1	0	4	141				
CHD6	84181	broad.mit.edu	37	20	40118565	40118565	+	Silent	SNP	A	A	G			TCGA-DJ-A3UX-01A-11D-A22D-08	TCGA-DJ-A3UX-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2f3b1f6-fa92-4a30-a848-9715aac69165	c75cda3d-1d47-44d0-b1fd-f426f9062b15	g.chr20:40118565A>G	ENST00000373233.3	-	12	1710	c.1533T>C	c.(1531-1533)ccT>ccC	p.P511P	CHD6_ENST00000309279.7_Silent_p.P511P	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	511	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Required for DNA-dependent ATPase activity.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TAATGAGAAAAGGGCCGTGGA	0.488																																						uc002xka.1																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(1531-1533)ccT>ccC		Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.							130.0	133.0	132.0					20																	40118565		2203	4300	6503	SO:0001819	synonymous_variant	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding	g.chr20:40118565A>G	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.1533T>C	20.37:g.40118565A>G						CHD6_uc002xkd.2_Silent_p.P489P	p.P511P	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN			11	1711	-		Myeloproliferative disorder(115;0.00425)	511			Helicase ATP-binding.		Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Silent	SNP	ENST00000373233.3	37	c.1533T>C	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	A	6.158	0.397287	0.11638	.	.	ENSG00000124177	ENST00000440697	.	.	.	5.27	-3.41	0.04839	.	.	.	.	.	T	0.38692	0.1050	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34700	-0.9818	4	.	.	.	-11.2335	1.7933	0.03056	0.1515:0.1304:0.3323:0.3858	.	.	.	.	P	214	.	.	L	-	2	0	CHD6	39551979	0.739000	0.28196	0.988000	0.46212	0.553000	0.35397	-0.101000	0.10973	-0.474000	0.06862	-1.487000	0.00979	CTT		0.488	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			3	163	0	0	0	1	0	3	163				
GPR35	2859	broad.mit.edu	37	2	241569925	241569925	+	Missense_Mutation	SNP	G	G	A	rs146267919		TCGA-DJ-A3UX-01A-11D-A22D-08	TCGA-DJ-A3UX-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2f3b1f6-fa92-4a30-a848-9715aac69165	c75cda3d-1d47-44d0-b1fd-f426f9062b15	g.chr2:241569925G>A	ENST00000319838.5	+	6	1498	c.556G>A	c.(556-558)Gtg>Atg	p.V186M	GPR35_ENST00000403859.1_Missense_Mutation_p.V186M|GPR35_ENST00000438013.2_Missense_Mutation_p.V217M|GPR35_ENST00000430267.1_Missense_Mutation_p.V186M|GPR35_ENST00000407714.1_Missense_Mutation_p.V186M	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	186					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		GCCCCTGGCCGTGGTGGTCTT	0.662																																						uc010fzi.2																			0		p.R217H(1)		NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17						c.(649-651)Gtg>Atg		Homo sapiens G protein-coupled receptor 35 (GPR35), transcript variant 2, mRNA.		G	MET/VAL,MET/VAL,MET/VAL	0,4398		0,0,2199	39.0	43.0	41.0		649,649,556	0.9	1.0	2	dbSNP_134	41	1,8593		0,1,4296	no	missense,missense,missense	GPR35	NM_001195381.1,NM_001195382.1,NM_005301.3	21,21,21	0,1,6495	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	217/341,217/341,186/310	241569925	1,12991	2199	4297	6496	SO:0001583	missense	2859					integral to plasma membrane	G-protein coupled receptor activity	g.chr2:241569925G>A		CCDS2541.1, CCDS56174.1	2q37.3	2012-08-21			ENSG00000178623	ENSG00000178623		"""GPCR / Class A : Orphans"""	4492	protein-coding gene	gene with protein product		602646				9479505	Standard	NM_005301		Approved		uc021vze.1	Q9HC97	OTTHUMG00000133356	ENST00000319838.5:c.556G>A	2.37:g.241569925G>A	ENSP00000322731:p.Val186Met					GPR35_uc010fzh.2_Missense_Mutation_p.V217M|GPR35_uc021vze.1_Missense_Mutation_p.V186M|GPR35_uc002vzs.2_Missense_Mutation_p.V186M	p.V217M	NM_001195381	NP_001182310	Q9HC97	GPR35_HUMAN		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)	5	1521	+		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)	186					J3KR30|O43495|Q17R58|Q4VBN5|Q4ZFV2|Q6FHI8|Q86UH4	Missense_Mutation	SNP	ENST00000319838.5	37	c.649G>A	CCDS2541.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.109884	0.37242	0.0	1.16E-4	ENSG00000178623	ENST00000319838;ENST00000403859;ENST00000438013;ENST00000407714;ENST00000430267	T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97	3.91	0.89	0.19218	GPCR, rhodopsin-like superfamily (1);	0.275102	0.29073	U	0.013239	T	0.54431	0.1858	M	0.78344	2.41	0.09310	N	1	D;D;D	0.76494	0.999;0.998;0.99	D;D;P	0.66847	0.947;0.913;0.857	T	0.42732	-0.9434	10	0.72032	D	0.01	-14.0955	3.0461	0.06154	0.3535:0.2222:0.4243:0.0	.	271;217;186	Q6ZMP9;A8K2J1;Q9HC97	.;.;GPR35_HUMAN	M	186;186;217;186;186	ENSP00000322731:V186M;ENSP00000385140:V186M;ENSP00000415890:V217M;ENSP00000384263:V186M;ENSP00000411788:V186M	ENSP00000322731:V186M	V	+	1	0	GPR35	241218598	0.000000	0.05858	0.999000	0.59377	0.527000	0.34593	0.200000	0.17257	0.375000	0.24679	0.455000	0.32223	GTG		0.662	GPR35-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325631.1	NM_001195382		3	83	0	0	0	1	0	3	83				
NPM3	10360	broad.mit.edu	37	10	103542065	103542065	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A3UX-01A-11D-A22D-08	TCGA-DJ-A3UX-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2f3b1f6-fa92-4a30-a848-9715aac69165	c75cda3d-1d47-44d0-b1fd-f426f9062b15	g.chr10:103542065C>A	ENST00000370110.5	-	4	390	c.368G>T	c.(367-369)cGc>cTc	p.R123L	NPM3_ENST00000474993.1_5'UTR	NM_006993.2	NP_008924.1	O75607	NPM3_HUMAN	nucleophosmin/nucleoplasmin 3	123					rRNA processing (GO:0006364)|rRNA transcription (GO:0009303)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			large_intestine(3)|lung(1)|skin(1)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		CGACTTCAGGCGGAAGGTTAC	0.602																																						uc001ktt.3																			0				large_intestine(3)|lung(1)|skin(1)	5						c.(367-369)cGc>cTc		Homo sapiens nucleophosmin/nucleoplasmin 3 (NPM3), mRNA.							68.0	68.0	68.0					10																	103542065		2203	4300	6503	SO:0001583	missense	10360						nucleic acid binding	g.chr10:103542065C>A	AY049737	CCDS7519.1	10q24.31	2009-08-27	2009-08-27		ENSG00000107833	ENSG00000107833			7931	protein-coding gene	gene with protein product		606456				11722795	Standard	NM_006993		Approved		uc001ktt.3	O75607	OTTHUMG00000018942	ENST00000370110.5:c.368G>T	10.37:g.103542065C>A	ENSP00000359128:p.Arg123Leu					FGF8_uc021pxg.1_5'Flank	p.R123L	NM_006993	NP_008924	O75607	NPM3_HUMAN		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)	3	391	-		Colorectal(252;0.122)	123					Q9UNY6	Missense_Mutation	SNP	ENST00000370110.5	37	c.368G>T	CCDS7519.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.462594	0.84425	.	.	ENSG00000107833	ENST00000370110	T	0.55930	0.49	5.61	2.75	0.32379	Nucleoplasmin core (2);	0.048583	0.85682	D	0.000000	T	0.63034	0.2477	M	0.66297	2.02	0.52501	D	0.99995	D	0.62365	0.991	P	0.60012	0.867	T	0.64162	-0.6472	10	0.72032	D	0.01	-15.6254	9.101	0.36669	0.0:0.7693:0.0:0.2307	.	123	O75607	NPM3_HUMAN	L	123	ENSP00000359128:R123L	ENSP00000359128:R123L	R	-	2	0	NPM3	103532055	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	2.395000	0.44459	0.744000	0.32741	-0.136000	0.14681	CGC		0.602	NPM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050003.2	NM_006993		7	29	0	0	0	1	0	7	29				
STAB2	55576	broad.mit.edu	37	12	104107531	104107531	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A3UX-01A-11D-A22D-08	TCGA-DJ-A3UX-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2f3b1f6-fa92-4a30-a848-9715aac69165	c75cda3d-1d47-44d0-b1fd-f426f9062b15	g.chr12:104107531G>T	ENST00000388887.2	+	42	4726	c.4522G>T	c.(4522-4524)Ggc>Tgc	p.G1508C		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CACGGGTGATGGCATTGTGTG	0.517																																						uc001tjw.3																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(4522-4524)Ggc>Tgc		Homo sapiens stabilin 2 (STAB2), mRNA.							291.0	258.0	269.0					12																	104107531		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104107531G>T	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.4522G>T	12.37:g.104107531G>T	ENSP00000373539:p.Gly1508Cys					STAB2_uc009zug.3_Non-coding_Transcript	p.G1508C	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			41	4708	+			1508			EGF-like 12.			Missense_Mutation	SNP	ENST00000388887.2	37	c.4522G>T	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.216651	0.58452	.	.	ENSG00000136011	ENST00000388887;ENST00000258495	D	0.99909	-7.85	5.18	5.18	0.71444	EGF domain, merozoite surface protein 1-like (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99945	0.9976	H	0.98980	4.39	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.96012	0.9002	10	0.66056	D	0.02	.	18.7123	0.91662	0.0:0.0:1.0:0.0	.	1508	Q8WWQ8	STAB2_HUMAN	C	1508;195	ENSP00000373539:G1508C	ENSP00000258495:G195C	G	+	1	0	STAB2	102631661	1.000000	0.71417	0.991000	0.47740	0.212000	0.24457	8.678000	0.91211	2.411000	0.81874	0.555000	0.69702	GGC		0.517	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			72	334	0	0	0	1	0	72	334				
ADH7	131	broad.mit.edu	37	4	100350697	100350697	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UX-01A-11D-A22D-08	TCGA-DJ-A3UX-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2f3b1f6-fa92-4a30-a848-9715aac69165	c75cda3d-1d47-44d0-b1fd-f426f9062b15	g.chr4:100350697G>A	ENST00000209665.4	-	2	388	c.148C>T	c.(148-150)Cgc>Tgc	p.R50C	ADH7_ENST00000437033.2_Missense_Mutation_p.R38C|ADH7_ENST00000482593.1_5'UTR|ADH7_ENST00000476959.1_Missense_Mutation_p.R58C	NM_000673.4	NP_000664.2	P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	50					ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|extracellular negative regulation of signal transduction (GO:1900116)|fatty acid omega-oxidation (GO:0010430)|oxidation-reduction process (GO:0055114)|response to bacterium (GO:0009617)|response to ethanol (GO:0045471)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular region (GO:0005576)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|aldehyde oxidase activity (GO:0004031)|ethanol binding (GO:0035276)|receptor antagonist activity (GO:0048019)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)		ACCTTAATGCGAACTTCTTTA	0.403																																						uc021xqj.1																			0				breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19						c.(172-174)Cgc>Tgc		Homo sapiens alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide (ADH7), transcript variant 1, mRNA.	NADH(DB00157)						98.0	85.0	90.0					4																	100350697		2203	4300	6503	SO:0001583	missense	131				ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity	g.chr4:100350697G>A	X76342	CCDS34034.1, CCDS54781.1	4q23-q24	2008-02-05			ENSG00000196344	ENSG00000196344	1.1.1.1	"""Alcohol dehydrogenases"""	256	protein-coding gene	gene with protein product		600086				8195208	Standard	NM_000673		Approved	ADH-4	uc021xqj.1	P40394	OTTHUMG00000159318	ENST00000209665.4:c.148C>T	4.37:g.100350697G>A	ENSP00000209665:p.Arg50Cys					ADH7_uc003huv.2_Missense_Mutation_p.R50C	p.R58C	NM_001166504	NP_001159976	P40394	ADH7_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	1	202	-			50					A2RRB6|A8MVN9|B2R760|B4DWV6|Q13713	Missense_Mutation	SNP	ENST00000209665.4	37	c.172C>T	CCDS34034.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.559571	0.65538	.	.	ENSG00000196344	ENST00000437033;ENST00000209665;ENST00000476959	T;T;T	0.05199	3.48;3.48;3.48	4.05	1.29	0.21616	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.171784	0.52532	D	0.000065	T	0.23532	0.0569	H	0.94886	3.595	0.80722	D	1	D	0.55800	0.973	P	0.56823	0.807	T	0.01287	-1.1395	10	0.72032	D	0.01	-16.1279	6.3998	0.21632	0.16:0.0:0.6933:0.1467	.	50	P40394	ADH7_HUMAN	C	38;50;58	ENSP00000414254:R38C;ENSP00000209665:R50C;ENSP00000420269:R58C	ENSP00000209665:R50C	R	-	1	0	ADH7	100569720	0.997000	0.39634	0.028000	0.17463	0.978000	0.69477	5.693000	0.68264	0.121000	0.18284	0.655000	0.94253	CGC		0.403	ADH7-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_000673		6	23	0	0	0	1	0	6	23				
KAZN	23254	broad.mit.edu	37	1	14925625	14925625	+	Silent	SNP	C	C	T			TCGA-DJ-A3UX-01A-11D-A22D-08	TCGA-DJ-A3UX-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2f3b1f6-fa92-4a30-a848-9715aac69165	c75cda3d-1d47-44d0-b1fd-f426f9062b15	g.chr1:14925625C>T	ENST00000376030.2	+	1	426	c.132C>T	c.(130-132)ggC>ggT	p.G44G	KAZN_ENST00000422387.2_Silent_p.G44G|KAZN_ENST00000503743.1_Silent_p.G44G	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	44					keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						gcggcggcggcggccccggcc	0.741																																						uc001avm.4																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						c.(130-132)ggC>ggT		Homo sapiens kazrin, periplakin interacting protein (KAZN), transcript variant E, mRNA.							7.0	9.0	9.0					1																	14925625		1768	3964	5732	SO:0001819	synonymous_variant	23254				keratinization	cornified envelope|cytoplasm|desmosome|nucleus		g.chr1:14925625C>T	AY505119	CCDS30604.1, CCDS41267.1, CCDS152.2, CCDS41268.1	1p36.21	2014-02-12	2011-01-31		ENSG00000189337	ENSG00000189337		"""Sterile alpha motif (SAM) domain containing"""	29173	protein-coding gene	gene with protein product						15337775, 18840647	Standard	NM_015209		Approved	KIAA1026, KAZRIN, FLJ43806	uc001avm.4	Q674X7	OTTHUMG00000002042	ENST00000376030.2:c.132C>T	1.37:g.14925625C>T						KAZN_uc009vog.1_Silent_p.G44G	p.G44G	NM_201628	NP_963922	Q674X7	KAZRN_HUMAN			0	413	+			44					B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4	Silent	SNP	ENST00000376030.2	37	c.132C>T	CCDS152.2																																																																																				0.741	KAZN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005690.2	NM_001017999		3	31	0	0	0	1	0	3	31				
CACNA1D	776	broad.mit.edu	37	3	53700562	53700562	+	Splice_Site	SNP	G	G	T			TCGA-DJ-A3UX-01A-11D-A22D-08	TCGA-DJ-A3UX-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2f3b1f6-fa92-4a30-a848-9715aac69165	c75cda3d-1d47-44d0-b1fd-f426f9062b15	g.chr3:53700562G>T	ENST00000350061.5	+	7	1627	c.1116G>T	c.(1114-1116)tgG>tgT	p.W372C	CACNA1D_ENST00000422281.2_Splice_Site_p.W372C|CACNA1D_ENST00000288139.4_Splice_Site_p.W372C	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	372					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TGCTCTACTGGGTAAGTACCC	0.502																																						uc003dgu.4																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.e7+1		Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 1, mRNA.	Verapamil(DB00661)						126.0	128.0	127.0					3																	53700562		2203	4300	6503	SO:0001630	splice_region_variant	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53700562G>T	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.1116+1G>T	3.37:g.53700562G>T						CACNA1D_uc003dgv.4_Splice_Site_p.W372_splice|CACNA1D_uc003dgy.4_Splice_Site_p.W372_splice|CACNA1D_uc003dgw.4_Splice_Site_p.W19_splice	p.W372_splice	NM_000720	NP_000711	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	7	1279	+			372					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Splice_Site	SNP	ENST00000350061.5	37	c.1116_splice	CCDS46848.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.68|16.68	3.191033|3.191033	0.58017|0.58017	.|.	.|.	ENSG00000157388|ENSG00000157388	ENST00000481085|ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	.|D;D;D;D	.|0.98419	.|-4.92;-4.92;-4.92;-4.92	5.06|5.06	5.06|5.06	0.68205|0.68205	.|Ion transport (1);	.|.	.|.	.|.	.|.	D|D	0.99180|0.99180	0.9716|0.9716	M|M	0.91140|0.91140	3.18|3.18	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.999;0.99;0.981;0.999	D|D	0.99338|0.99338	1.0911|1.0911	5|9	.|0.87932	.|D	.|0	.|.	18.6007|18.6007	0.91247|0.91247	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|372;45;372;372	.|B0FYA3;Q59GD8;Q01668;Q01668-2	.|.;.;CAC1D_HUMAN;.	V|C	58|372;372;372;45	.|ENSP00000288133:W372C;ENSP00000288139:W372C;ENSP00000409174:W372C;ENSP00000418014:W45C	.|ENSP00000288139:W372C	G|W	+|+	2|3	0|0	CACNA1D|CACNA1D	53675602|53675602	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.340000|0.340000	0.28889|0.28889	9.601000|9.601000	0.98297|0.98297	2.629000|2.629000	0.89072|0.89072	0.491000|0.491000	0.48974|0.48974	GGG|TGG		0.502	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720	Missense_Mutation	6	234	0	0	0	1	0	6	234				
TECTA	7007	broad.mit.edu	37	11	121000902	121000902	+	Missense_Mutation	SNP	C	C	T	rs138696978		TCGA-DJ-A3UX-01A-11D-A22D-08	TCGA-DJ-A3UX-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2f3b1f6-fa92-4a30-a848-9715aac69165	c75cda3d-1d47-44d0-b1fd-f426f9062b15	g.chr11:121000902C>T	ENST00000392793.1	+	10	3194	c.2923C>T	c.(2923-2925)Cgg>Tgg	p.R975W	TECTA_ENST00000264037.2_Missense_Mutation_p.R975W			O75443	TECTA_HUMAN	tectorin alpha	975					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GGGGCCCTGGCGGACCTATGA	0.597																																						uc010rzo.2																		TECTA/TBCEL(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(2923-2925)Cgg>Tgg		Homo sapiens tectorin alpha (TECTA), mRNA.		C	TRP/ARG	0,4406		0,0,2203	52.0	59.0	57.0		2923	0.6	1.0	11	dbSNP_134	57	1,8597	1.2+/-3.3	0,1,4298	no	missense	TECTA	NM_005422.2	101	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	975/2156	121000902	1,13003	2203	4299	6502	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121000902C>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.2923C>T	11.37:g.121000902C>T	ENSP00000376543:p.Arg975Trp						p.R975W	NM_005422	NP_005413	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	8	2923	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	975						Missense_Mutation	SNP	ENST00000392793.1	37	c.2923C>T	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.444548	0.63178	0.0	1.16E-4	ENSG00000109927	ENST00000392793;ENST00000264037	D;D	0.84800	-1.9;-1.9	5.4	0.623	0.17654	Uncharacterised domain, cysteine-rich (2);	0.000000	0.85682	D	0.000000	D	0.94525	0.8237	H	0.96430	3.82	0.40192	D	0.977411	D	0.89917	1.0	D	0.97110	1.0	D	0.96205	0.9148	10	0.87932	D	0	.	17.5401	0.87845	0.7748:0.2252:0.0:0.0	.	975	O75443	TECTA_HUMAN	W	975	ENSP00000376543:R975W;ENSP00000264037:R975W	ENSP00000264037:R975W	R	+	1	2	TECTA	120506112	1.000000	0.71417	0.993000	0.49108	0.999000	0.98932	1.611000	0.36879	0.106000	0.17784	0.650000	0.86243	CGG		0.597	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		3	97	0	0	0	1	0	3	97				
OTUD4	54726	broad.mit.edu	37	4	146059041	146059041	+	Silent	SNP	A	A	G			TCGA-DJ-A3UX-01A-11D-A22D-08	TCGA-DJ-A3UX-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2f3b1f6-fa92-4a30-a848-9715aac69165	c75cda3d-1d47-44d0-b1fd-f426f9062b15	g.chr4:146059041A>G	ENST00000447906.2	-	21	3073	c.2886T>C	c.(2884-2886)caT>caC	p.H962H	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000454497.2_Silent_p.H897H			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	962					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					GAGTGGGAGGATGAGCCTTTC	0.478																																						uc003ika.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(2689-2691)caT>caC		Homo sapiens OTU domain containing 4 (OTUD4), transcript variant 3, mRNA.							118.0	118.0	118.0					4																	146059041		2203	4300	6503	SO:0001819	synonymous_variant	54726						protein binding	g.chr4:146059041A>G		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.2886T>C	4.37:g.146059041A>G							p.H897H	NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN			20	2829	-	all_hematologic(180;0.151)		961					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Silent	SNP	ENST00000447906.2	37	c.2691T>C																																																																																					0.478	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		3	225	0	0	0	1	0	3	225				
PHRF1	57661	broad.mit.edu	37	11	608072	608072	+	Silent	SNP	G	G	A			TCGA-DJ-A3UX-01A-11D-A22D-08	TCGA-DJ-A3UX-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2f3b1f6-fa92-4a30-a848-9715aac69165	c75cda3d-1d47-44d0-b1fd-f426f9062b15	g.chr11:608072G>A	ENST00000264555.5	+	14	2744	c.2616G>A	c.(2614-2616)acG>acA	p.T872T	PHRF1_ENST00000533464.1_Silent_p.T868T|PHRF1_ENST00000416188.2_Silent_p.T871T|PHRF1_ENST00000413872.2_Silent_p.T870T	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	872					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						AGGCCCAGACGGTGCAGGCTG	0.657																																						uc001lqe.3																			0				breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						c.(2614-2616)acG>acA		Homo sapiens PHD and ring finger domains 1 (PHRF1), mRNA.							70.0	82.0	78.0					11																	608072		2099	4219	6318	SO:0001819	synonymous_variant	57661						RNA polymerase binding|zinc ion binding	g.chr11:608072G>A	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.2616G>A	11.37:g.608072G>A						PHRF1_uc010qwc.2_Silent_p.T871T|PHRF1_uc010qwd.2_Silent_p.T870T|PHRF1_uc010qwe.2_Silent_p.T868T|PHRF1_uc009ybz.1_Silent_p.T662T|PHRF1_uc009yca.2_Non-coding_Transcript	p.T872T	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN			13	2747	+			872					A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Silent	SNP	ENST00000264555.5	37	c.2616G>A																																																																																					0.657	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		4	204	0	0	0	1	0	4	204				
CDH24	64403	broad.mit.edu	37	14	23523469	23523469	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A3UX-01A-11D-A22D-08	TCGA-DJ-A3UX-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2f3b1f6-fa92-4a30-a848-9715aac69165	c75cda3d-1d47-44d0-b1fd-f426f9062b15	g.chr14:23523469C>T	ENST00000267383.5	-	5	945	c.853G>A	c.(853-855)Gac>Aac	p.D285N	CDH24_ENST00000554034.1_Missense_Mutation_p.D285N|CDH24_ENST00000487137.2_Missense_Mutation_p.D285N|CDH24_ENST00000397359.3_Missense_Mutation_p.D285N			Q86UP0	CAD24_HUMAN	cadherin 24, type 2	285	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		AGGTCTGGGTCCTGGGCCCGG	0.632																																						uc001wil.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						c.(853-855)Gac>Aac		Homo sapiens cadherin 24, type 2 (CDH24), transcript variant 1, mRNA.							86.0	89.0	88.0					14																	23523469		2203	4300	6503	SO:0001583	missense	64403				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding	g.chr14:23523469C>T	AL137477	CCDS9585.1, CCDS9586.1	14q11.2	2010-08-20	2009-11-20		ENSG00000139880	ENSG00000139880		"""Cadherins / Major cadherins"""	14265	protein-coding gene	gene with protein product			"""cadherin-like 24"""			12734196	Standard	NM_022478		Approved	CDH11L	uc001wil.3	Q86UP0	OTTHUMG00000028715	ENST00000267383.5:c.853G>A	14.37:g.23523469C>T	ENSP00000267383:p.Asp285Asn					CDH24_uc010akf.3_Missense_Mutation_p.D285N|CDH24_uc001win.3_Missense_Mutation_p.D285N	p.D285N	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	5	1113	-	all_cancers(95;3.3e-05)		285			Cadherin 3.		D3DS44|Q86UP1|Q9NT84	Missense_Mutation	SNP	ENST00000267383.5	37	c.853G>A	CCDS9585.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.728145	0.89390	.	.	ENSG00000139880	ENST00000397359;ENST00000487137;ENST00000554034;ENST00000267383	T;T;T;T	0.61627	0.09;0.09;0.09;0.09	4.77	4.77	0.60923	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.84032	0.5383	H	0.97131	3.945	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.89693	0.3899	10	0.87932	D	0	.	16.7125	0.85389	0.0:1.0:0.0:0.0	.	285;285;285	Q86UP0-2;Q96LQ7;Q86UP0	.;.;CAD24_HUMAN	N	285	ENSP00000380517:D285N;ENSP00000434821:D285N;ENSP00000452493:D285N;ENSP00000267383:D285N	ENSP00000267383:D285N	D	-	1	0	CDH24	22593309	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.215000	0.77966	2.469000	0.83416	0.655000	0.94253	GAC		0.632	CDH24-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257241.2	NM_022478		6	263	0	0	0	1	0	6	263				
PKLR	5313	broad.mit.edu	37	1	155263298	155263298	+	Silent	SNP	G	G	A			TCGA-DJ-A3UX-01A-11D-A22D-08	TCGA-DJ-A3UX-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2f3b1f6-fa92-4a30-a848-9715aac69165	c75cda3d-1d47-44d0-b1fd-f426f9062b15	g.chr1:155263298G>A	ENST00000342741.4	-	8	1238	c.1200C>T	c.(1198-1200)gaC>gaT	p.D400D	PKLR_ENST00000392414.3_Silent_p.D369D	NM_000298.5	NP_000289.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	400					ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of cellular metabolic process (GO:0031325)|pyruvate biosynthetic process (GO:0042866)|response to ATP (GO:0033198)|response to cAMP (GO:0051591)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to nutrient (GO:0007584)|response to other organism (GO:0051707)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	GCATGATGCAGTCAGCCCCAT	0.582																																						uc001fkb.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1198-1200)gaC>gaT		Homo sapiens pyruvate kinase, liver and RBC (PKLR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	Pyruvic acid(DB00119)						83.0	69.0	74.0					1																	155263298		2203	4300	6503	SO:0001819	synonymous_variant	5313				endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity	g.chr1:155263298G>A	BC025737, M15465	CCDS1109.1, CCDS44240.1	1q22	2012-10-02			ENSG00000143627	ENSG00000143627	2.7.1.40		9020	protein-coding gene	gene with protein product		609712				3566732	Standard	NM_000298		Approved		uc001fkb.4	P30613	OTTHUMG00000035875	ENST00000342741.4:c.1200C>T	1.37:g.155263298G>A						PKLR_uc001fka.4_Silent_p.D369D	p.D400D	NM_000298	NP_000289	P30613	KPYR_HUMAN	Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		7	1239	-	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		400					O75758|P11973	Silent	SNP	ENST00000342741.4	37	c.1200C>T	CCDS1109.1																																																																																				0.582	PKLR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000087407.2	NM_000298		3	71	0	0	0	1	0	3	71				
