#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
ABCE1	6059	broad.mit.edu	37	4	146032140	146032140	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr4:146032140C>T	ENST00000296577.4	+	8	1149	c.634C>T	c.(634-636)Cga>Tga	p.R212*	OTUD4_ENST00000455611.2_5'UTR|ABCE1_ENST00000502803.1_Intron	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	212	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				negative regulation of catalytic activity (GO:0043086)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|iron-sulfur cluster binding (GO:0051536)|ribonuclease inhibitor activity (GO:0008428)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					CCTAAAAGAACGAAATGTTGA	0.363																																						ENST00000296577.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18						c.(634-636)Cga>Tga		ATP-binding cassette, sub-family E (OABP), member 1							119.0	111.0	114.0					4																	146032140		2203	4300	6503	SO:0001587	stop_gained	6059				interspecies interaction between organisms|response to virus|RNA catabolic process	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity	g.chr4:146032140C>T	X74987	CCDS34071.1	4q31	2012-03-14			ENSG00000164163	ENSG00000164163		"""ATP binding cassette transporters / subfamily E"""	69	protein-coding gene	gene with protein product		601213		RNASEL1, RNASELI, RNS4I		7539425	Standard	NM_002940		Approved	RLI, OABP	uc003ijy.3	P61221	OTTHUMG00000161478	ENST00000296577.4:c.634C>T	4.37:g.146032140C>T	ENSP00000296577:p.Arg212*					ABCE1_ENST00000502803.1_Intron|OTUD4_ENST00000455611.2_5'UTR	p.R212*	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN			8	1149	+	all_hematologic(180;0.151)		212			ABC transporter 1.		O88793|Q13181|Q13864|Q6NR76|Q96AL0|Q96B10|Q99K66	Nonsense_Mutation	SNP	ENST00000296577.4	37	c.634C>T	CCDS34071.1	.	.	.	.	.	.	.	.	.	.	C	38	7.157981	0.98103	.	.	ENSG00000164163	ENST00000296577	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-41.1562	13.6619	0.62372	0.2564:0.7436:0.0:0.0	.	.	.	.	X	212	.	ENSP00000296577:R212X	R	+	1	2	ABCE1	146251590	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.449000	0.44935	2.712000	0.92718	0.591000	0.81541	CGA		0.363	ABCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365104.1	NM_002940		7	68	0	0	0	1	0	7	68				
MLH3	27030	broad.mit.edu	37	14	75516298	75516298	+	Missense_Mutation	SNP	A	A	C			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr14:75516298A>C	ENST00000556740.1	-	1	96	c.61T>G	c.(61-63)Tcc>Gcc	p.S21A	MLH3_ENST00000544985.1_5'Flank|MLH3_ENST00000556257.1_Missense_Mutation_p.S21A|MLH3_ENST00000555671.1_5'Flank|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000355774.2_Missense_Mutation_p.S21A|MLH3_ENST00000238662.7_Missense_Mutation_p.S21A			Q9UHC1	MLH3_HUMAN	mutL homolog 3	21					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TGGCCCAAGGAGCTTATGGCC	0.458								Mismatch excision repair (MMR)																														ENST00000355774.2																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44						c.(61-63)Tcc>Gcc	Mismatch excision repair (MMR)	mutL homolog 3							74.0	69.0	70.0					14																	75516298		2203	4300	6503	SO:0001583	missense	27030				mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding	g.chr14:75516298A>C	AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"""mutL (E. coli) homolog 3"", ""mutL homolog 3 (E. coli)"""			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.61T>G	14.37:g.75516298A>C	ENSP00000452316:p.Ser21Ala					MLH3_ENST00000556257.1_Missense_Mutation_p.S21A|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000238662.7_Missense_Mutation_p.S21A|MLH3_ENST00000556740.1_Missense_Mutation_p.S21A	p.S21A	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00688)	2	276	-			21					P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	ENST00000556740.1	37	c.61T>G	CCDS32123.1	.	.	.	.	.	.	.	.	.	.	A	14.66	2.601007	0.46423	.	.	ENSG00000119684	ENST00000355774;ENST00000238662;ENST00000556257;ENST00000556740;ENST00000553263;ENST00000557648	T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61	5.52	5.52	0.82312	ATPase-like, ATP-binding domain (4);	0.000000	0.85682	D	0.000000	T	0.73225	0.3560	M	0.88512	2.96	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.958;0.994	T	0.77720	-0.2482	10	0.49607	T	0.09	-7.3877	15.6637	0.77209	1.0:0.0:0.0:0.0	.	21;21	Q9UHC1-2;Q9UHC1	.;MLH3_HUMAN	A	21	ENSP00000348020:S21A;ENSP00000238662:S21A;ENSP00000451540:S21A;ENSP00000452316:S21A;ENSP00000451192:S21A;ENSP00000451095:S21A	ENSP00000238662:S21A	S	-	1	0	MLH3	74586051	1.000000	0.71417	0.995000	0.50966	0.977000	0.68977	7.323000	0.79105	2.095000	0.63458	0.533000	0.62120	TCC		0.458	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	NM_014381		25	20	0	0	0	1	0	25	20				
TXNDC5	81567	broad.mit.edu	37	6	7888998	7888998	+	Silent	SNP	C	C	G	rs142347872		TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr6:7888998C>G	ENST00000379757.4	-	7	940	c.903G>C	c.(901-903)gcG>gcC	p.A301A	BLOC1S5-TXNDC5_ENST00000439343.2_3'UTR|TXNDC5_ENST00000539054.1_Silent_p.A229A|TXNDC5_ENST00000473453.1_Silent_p.A193A	NM_030810.3	NP_110437.2	Q8NBS9	TXND5_HUMAN	thioredoxin domain containing 5 (endoplasmic reticulum)	301					apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	protein disulfide isomerase activity (GO:0003756)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(2)	22	Ovarian(93;0.0398)					CGGTCTCCGTCGCTCCAGTCT	0.647																																					Ovarian(119;1430 1625 3928 26125 34589)	ENST00000539054.1																			0											c.(685-687)gcG>gcC									123.0	119.0	121.0					6																	7888998		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr6:7888998C>G	AK025006	CCDS4505.1, CCDS47369.1	6p24.3	2011-10-19	2009-02-23		ENSG00000239264	ENSG00000239264		"""Protein disulfide isomerases"""	21073	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 15"""		"""thioredoxin domain containing 5"""				Standard	NM_001145549		Approved	MGC3178, FLJ21353, FLJ90810, EndoPDI, Hcc-2, ERp46, PDIA15	uc003mxv.3	Q8NBS9	OTTHUMG00000014216	ENST00000379757.4:c.903G>C	6.37:g.7888998C>G						TXNDC5_ENST00000473453.1_Silent_p.A193A|BLOC1S5-TXNDC5_ENST00000604490.1_Silent_p.A193A|TXNDC5_ENST00000379757.4_Silent_p.A301A	p.A229A							7	686	-								B2RDM2|Q5TCQ0|Q8ND33|Q8TCT2|Q9BVH9	Silent	SNP	ENST00000379757.4	37	c.687G>C	CCDS4505.1																																																																																				0.647	TXNDC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039792.1	NM_030810		8	139	0	0	0	1	0	8	139				
KPRP	448834	broad.mit.edu	37	1	152732432	152732432	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr1:152732432A>G	ENST00000606109.1	+	1	396	c.368A>G	c.(367-369)gAa>gGa	p.E123G	KPRP_ENST00000368773.1_Missense_Mutation_p.E123G			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	123	Gln-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGCAGTGCGAAGCGTCACAA	0.493																																						ENST00000368773.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(367-369)gAa>gGa		keratinocyte proline-rich protein							263.0	249.0	253.0					1																	152732432		2203	4300	6503	SO:0001583	missense	448834					cytoplasm		g.chr1:152732432A>G	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.368A>G	1.37:g.152732432A>G	ENSP00000475216:p.Glu123Gly					KPRP_ENST00000606109.1_Missense_Mutation_p.E123G	p.E123G	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	426	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		123			Gln-rich.			Missense_Mutation	SNP	ENST00000606109.1	37	c.368A>G	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	A	12.18	1.859406	0.32884	.	.	ENSG00000203786	ENST00000368773	T	0.13420	2.59	5.78	3.48	0.39840	.	0.488989	0.17273	N	0.180300	T	0.05593	0.0147	L	0.57536	1.79	0.09310	N	1	B	0.21225	0.053	B	0.20955	0.032	T	0.31308	-0.9948	10	0.87932	D	0	-0.7479	7.455	0.27261	0.8299:0.0:0.1701:0.0	.	123	Q5T749	KPRP_HUMAN	G	123	ENSP00000357762:E123G	ENSP00000357762:E123G	E	+	2	0	KPRP	150999056	0.016000	0.18221	0.001000	0.08648	0.002000	0.02628	1.059000	0.30517	0.555000	0.29079	0.533000	0.62120	GAA		0.493	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		11	226	0	0	0	1	0	11	226				
TMEM2	23670	broad.mit.edu	37	9	74347285	74347285	+	Silent	SNP	G	G	T			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr9:74347285G>T	ENST00000377044.4	-	7	2084	c.1545C>A	c.(1543-1545)acC>acA	p.T515T	TMEM2_ENST00000377066.5_Silent_p.T452T	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	515					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		GTCCCCCAAAGGTATCATAAT	0.383																																						ENST00000377044.4																			0				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56						c.(1543-1545)acC>acA		transmembrane protein 2							118.0	111.0	113.0					9																	74347285		2203	4300	6503	SO:0001819	synonymous_variant	23670					integral to membrane		g.chr9:74347285G>T		CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.1545C>A	9.37:g.74347285G>T						TMEM2_ENST00000377066.5_Silent_p.T452T	p.T515T	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)	7	2084	-		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)	515					A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Silent	SNP	ENST00000377044.4	37	c.1545C>A	CCDS6638.1																																																																																				0.383	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390		4	78	1	0	0.00024832	1	0.000280247	4	78				
DPM1	8813	broad.mit.edu	37	20	49575490	49575490	+	5'Flank	SNP	A	A	G			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr20:49575490A>G	ENST00000371588.5	-	0	0				MOCS3_ENST00000244051.1_Silent_p.E37E|DPM1_ENST00000466152.1_5'Flank|DPM1_ENST00000371582.4_5'Flank|DPM1_ENST00000371583.5_5'Flank	NM_003859.1	NP_003850.1	O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit						C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose metabolic process (GO:0019673)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nucleus (GO:0005634)	alcohol binding (GO:0043178)|dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannose binding (GO:0005537)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						CTGAGCAGGAACCGCAGCCAG	0.612																																						ENST00000244051.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						c.(109-111)gaA>gaG		molybdenum cofactor synthesis 3							43.0	48.0	46.0					20																	49575490		2185	4263	6448	SO:0001631	upstream_gene_variant	27304				enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity	g.chr20:49575490A>G	AF007875	CCDS13434.1	20q13.1	2013-02-26			ENSG00000000419	ENSG00000000419	2.4.1.83	"""Glycosyltransferase family 2 domain containing"""	3005	protein-coding gene	gene with protein product	"""DPM synthase complex, catalytic subunit"""	603503				9223280, 9535917	Standard	NM_003859		Approved	MPDS, CDGIE	uc002xvw.1	O60762	OTTHUMG00000032742		20.37:g.49575490A>G	Exception_encountered						p.E37E	NM_014484.3	NP_055299.1	O95396	MOCS3_HUMAN			1	128	+			37					O15157|Q6IB78|Q96HK0	Silent	SNP	ENST00000371588.5	37	c.111A>G	CCDS13434.1																																																																																				0.612	DPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079716.1	NM_003859		25	88	0	0	0	1	0	25	88				
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)gaG>gaA		high mobility group box 3							50.0	48.0	49.0					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156360G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"""High-mobility group / Canonical"""	5004	protein-coding gene	gene with protein product	"""non-histone chromosomal protein"""	300193	"""high-mobility group (nonhistone chromosomal) protein 4"", ""high-mobility group box 3"""	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A						HMGB3_ENST00000448905.2_Silent_p.E192E	p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	672	+	Acute lymphoblastic leukemia(192;6.56e-05)		192			Asp/Glu-rich (acidic).		O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.576G>A	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		4	60	0	0	0	1	0	4	60				
HIVEP1	3096	broad.mit.edu	37	6	12121547	12121547	+	Missense_Mutation	SNP	G	G	C			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr6:12121547G>C	ENST00000379388.2	+	4	1851	c.1519G>C	c.(1519-1521)Gac>Cac	p.D507H		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	507					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GAGACAGCATGACCTGGGCGC	0.493																																						ENST00000379388.2																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90						c.(1519-1521)Gac>Cac		human immunodeficiency virus type I enhancer binding protein 1							51.0	55.0	54.0					6																	12121547		2131	4257	6388	SO:0001583	missense	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12121547G>C	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.1519G>C	6.37:g.12121547G>C	ENSP00000368698:p.Asp507His						p.D507H	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN			4	1851	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	507					B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	c.1519G>C	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.850929	0.32699	.	.	ENSG00000095951	ENST00000379388	T	0.10477	2.87	5.51	4.63	0.57726	.	0.993613	0.08150	N	0.990262	T	0.16385	0.0394	L	0.54323	1.7	0.80722	D	1	D	0.69078	0.997	P	0.60345	0.873	T	0.00918	-1.1515	9	.	.	.	-4.918	14.7488	0.69508	0.0708:0.0:0.9292:0.0	.	507	P15822	ZEP1_HUMAN	H	507	ENSP00000368698:D507H	.	D	+	1	0	HIVEP1	12229533	1.000000	0.71417	0.005000	0.12908	0.099000	0.18886	3.501000	0.53325	1.297000	0.44761	0.655000	0.94253	GAC		0.493	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		5	36	0	0	0	1	0	5	36				
INHBE	83729	broad.mit.edu	37	12	57850626	57850626	+	Missense_Mutation	SNP	A	A	T			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr12:57850626A>T	ENST00000266646.2	+	2	1264	c.1048A>T	c.(1048-1050)Agc>Tgc	p.S350C	INHBE_ENST00000551553.1_3'UTR	NM_031479.3	NP_113667.1	P58166	INHBE_HUMAN	inhibin, beta E	350					growth (GO:0040007)	extracellular region (GO:0005576)				breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						CTGTGGCTGCAGCTAGCAAGA	0.557											OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(191;1808 2166 15720 36624 50371)	ENST00000266646.2																			0				breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						c.(1048-1050)Agc>Tgc		inhibin, beta E							65.0	61.0	62.0					12																	57850626		2203	4300	6503	SO:0001583	missense	83729				growth	extracellular region	growth factor activity|hormone activity	g.chr12:57850626A>T		CCDS8939.1	12q13.2	2008-02-05				ENSG00000139269			24029	protein-coding gene	gene with protein product		612031				12242034	Standard	NM_031479		Approved	activin, MGC4638	uc001snw.3	P58166		ENST00000266646.2:c.1048A>T	12.37:g.57850626A>T	ENSP00000266646:p.Ser350Cys		OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1026	INHBE_ENST00000551553.1_3'UTR	p.S350C	NM_031479.3	NP_113667.1	P58166	INHBE_HUMAN			2	1264	+			350						Missense_Mutation	SNP	ENST00000266646.2	37	c.1048A>T	CCDS8939.1	.	.	.	.	.	.	.	.	.	.	A	19.16	3.773152	0.69992	.	.	ENSG00000139269	ENST00000266646	D	0.84660	-1.88	4.65	4.65	0.58169	Transforming growth factor-beta, C-terminal (3);	0.050379	0.85682	D	0.000000	D	0.92126	0.7504	M	0.83953	2.67	0.41555	D	0.988594	D	0.89917	1.0	D	0.79108	0.992	D	0.93403	0.6762	10	0.87932	D	0	-8.1354	13.5017	0.61459	1.0:0.0:0.0:0.0	.	350	P58166	INHBE_HUMAN	C	350	ENSP00000266646:S350C	ENSP00000266646:S350C	S	+	1	0	INHBE	56136893	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.921000	0.70028	2.075000	0.62263	0.533000	0.62120	AGC		0.557	INHBE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406773.1	NM_031479		3	70	0	0	0	1	0	3	70				
HMCN1	83872	broad.mit.edu	37	1	186057368	186057368	+	Silent	SNP	A	A	C			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr1:186057368A>C	ENST00000271588.4	+	62	9766	c.9537A>C	c.(9535-9537)ccA>ccC	p.P3179P	HMCN1_ENST00000367492.2_Silent_p.P3179P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3179	Ig-like C2-type 30.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTGGGATCCCACCTCCCACGA	0.438																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(9535-9537)ccA>ccC		hemicentin 1							94.0	83.0	87.0					1																	186057368		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186057368A>C	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.9537A>C	1.37:g.186057368A>C						HMCN1_ENST00000367492.2_Silent_p.P3179P	p.P3179P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			62	9766	+			3179			Ig-like C2-type 30.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.9537A>C	CCDS30956.1																																																																																				0.438	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		26	30	0	0	0	1	0	26	30				
MYO18B	84700	broad.mit.edu	37	22	26222385	26222385	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr22:26222385T>C	ENST00000407587.2	+	14	2874	c.2705T>C	c.(2704-2706)aTg>aCg	p.M902T	MYO18B_ENST00000335473.7_Missense_Mutation_p.M902T|MYO18B_ENST00000536101.1_Missense_Mutation_p.M902T			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	902	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGGCTCAAGATGACAGGAGTG	0.542																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(2704-2706)aTg>aCg		myosin XVIIIB							148.0	145.0	146.0					22																	26222385		1961	4144	6105	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26222385T>C	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.2705T>C	22.37:g.26222385T>C	ENSP00000386096:p.Met902Thr					MYO18B_ENST00000407587.2_Missense_Mutation_p.M902T|MYO18B_ENST00000536101.1_Missense_Mutation_p.M902T	p.M902T	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			14	2955	+			902			Myosin head-like.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.2705T>C		.	.	.	.	.	.	.	.	.	.	T	17.28	3.350330	0.61183	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.86627	-2.15;-2.15;-2.15	4.48	4.48	0.54585	Myosin head, motor domain (2);	0.104832	0.64402	D	0.000005	D	0.91341	0.7269	L	0.61387	1.9	0.39718	D	0.971433	D;D;D;D	0.76494	0.997;0.997;0.999;0.997	D;D;D;D	0.77557	0.924;0.969;0.99;0.948	D	0.91381	0.5127	10	0.42905	T	0.14	.	12.6267	0.56634	0.0:0.0:0.0:1.0	.	415;902;902;902	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	T	902	ENSP00000441229:M902T;ENSP00000334563:M902T;ENSP00000386096:M902T	ENSP00000334563:M902T	M	+	2	0	MYO18B	24552385	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.841000	0.55850	1.662000	0.50781	0.379000	0.24179	ATG		0.542	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		45	59	0	0	0	1	0	45	59				
RHOBTB3	22836	broad.mit.edu	37	5	95091155	95091155	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr5:95091155C>G	ENST00000379982.3	+	6	1246	c.738C>G	c.(736-738)aaC>aaG	p.N246K	GLRX_ENST00000508780.1_Intron	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	246					ATP catabolic process (GO:0006200)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|GTP binding (GO:0005525)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		ACTTAAATAACTTGCTGTTCT	0.378																																						ENST00000379982.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16						c.(736-738)aaC>aaG		Rho-related BTB domain containing 3																																				SO:0001583	missense	22836				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding	g.chr5:95091155C>G	AB020685	CCDS4077.1	5q15	2014-05-09			ENSG00000164292	ENSG00000164292		"""BTB/POZ domain containing"""	18757	protein-coding gene	gene with protein product		607353				11222756, 17035353	Standard	NM_014899		Approved	KIAA0878	uc003klm.3	O94955	OTTHUMG00000121171	ENST00000379982.3:c.738C>G	5.37:g.95091155C>G	ENSP00000369318:p.Asn246Lys					GLRX_ENST00000508780.1_Intron	p.N246K	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN		all cancers(79;8.79e-16)	6	1246	+		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)	246					A0PJA4|A8K1W9|Q8IW06	Missense_Mutation	SNP	ENST00000379982.3	37	c.738C>G	CCDS4077.1	.	.	.	.	.	.	.	.	.	.	C	10.82	1.458511	0.26248	.	.	ENSG00000164292	ENST00000379982	T	0.65732	-0.17	5.78	1.96	0.26148	BTB/POZ fold (1);	0.337472	0.39909	N	0.001227	T	0.40694	0.1127	N	0.24115	0.695	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.09487	-1.0672	10	0.13853	T	0.58	-20.9557	7.9203	0.29841	0.0:0.6879:0.1162:0.196	.	246	O94955	RHBT3_HUMAN	K	246	ENSP00000369318:N246K	ENSP00000369318:N246K	N	+	3	2	RHOBTB3	95116911	0.992000	0.36948	0.208000	0.23602	0.908000	0.53690	0.685000	0.25378	0.141000	0.18875	0.591000	0.81541	AAC		0.378	RHOBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241658.1	NM_014899		29	137	0	0	0	1	0	29	137				
SLC6A2	6530	broad.mit.edu	37	16	55719086	55719086	+	Missense_Mutation	SNP	G	G	A	rs557196282		TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr16:55719086G>A	ENST00000379906.2	+	4	931	c.676G>A	c.(676-678)Ggg>Agg	p.G226R	SLC6A2_ENST00000219833.8_Missense_Mutation_p.G226R|SLC6A2_ENST00000568943.1_Missense_Mutation_p.G226R|SLC6A2_ENST00000566163.1_Missense_Mutation_p.G226R|SLC6A2_ENST00000567238.1_Missense_Mutation_p.G121R|SLC6A2_ENST00000561820.1_Missense_Mutation_p.G226R|SLC6A2_ENST00000414754.3_Missense_Mutation_p.G226R	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	226					monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CGAGAGCAGCGGGATTCATGA	0.587																																						ENST00000379906.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41						c.(676-678)Ggg>Agg		solute carrier family 6 (neurotransmitter transporter), member 2	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)						118.0	104.0	109.0					16																	55719086		2198	4300	6498	SO:0001583	missense	6530				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity	g.chr16:55719086G>A		CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"""Solute carriers"""	11048	protein-coding gene	gene with protein product	"""norepinephrine transporter"""	163970	"""solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"""	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.676G>A	16.37:g.55719086G>A	ENSP00000369237:p.Gly226Arg					SLC6A2_ENST00000414754.3_Missense_Mutation_p.G226R|SLC6A2_ENST00000568943.1_Missense_Mutation_p.G226R|SLC6A2_ENST00000567238.1_Missense_Mutation_p.G121R|SLC6A2_ENST00000566163.1_Missense_Mutation_p.G226R|SLC6A2_ENST00000561820.1_Missense_Mutation_p.G226R|SLC6A2_ENST00000219833.8_Missense_Mutation_p.G226R	p.G226R	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN		BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	4	931	+			226					B2R707|B4DX48|Q96KH8	Missense_Mutation	SNP	ENST00000379906.2	37	c.676G>A	CCDS10754.1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.480791	0.44044	.	.	ENSG00000103546	ENST00000414754;ENST00000379906;ENST00000219833	T;T;T	0.76578	-1.03;-1.03;-1.03	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.90745	0.7095	M	0.89534	3.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.92062	0.5657	10	0.87932	D	0	.	19.3172	0.94220	0.0:0.0:1.0:0.0	.	226;121;226	Q96KH8;B4DX48;P23975	.;.;SC6A2_HUMAN	R	226	ENSP00000394956:G226R;ENSP00000369237:G226R;ENSP00000219833:G226R	ENSP00000219833:G226R	G	+	1	0	SLC6A2	54276587	1.000000	0.71417	0.847000	0.33407	0.377000	0.30045	7.581000	0.82535	2.679000	0.91253	0.655000	0.94253	GGG		0.587	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256922.2			8	31	0	0	0	1	0	8	31				
OR8K5	219453	broad.mit.edu	37	11	55927617	55927617	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr11:55927617C>T	ENST00000313447.1	-	1	176	c.177G>A	c.(175-177)atG>atA	p.M59I		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	59						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				TAGAAAAGTACATAGGTGTAT	0.398																																						ENST00000313447.1																			0				large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(175-177)atG>atA		olfactory receptor, family 8, subfamily K, member 5							120.0	118.0	118.0					11																	55927617		2201	4296	6497	SO:0001583	missense	219453				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55927617C>T	BK004347	CCDS31521.1	11q11	2012-08-09			ENSG00000181752	ENSG00000181752		"""GPCR / Class A : Olfactory receptors"""	15315	protein-coding gene	gene with protein product							Standard	NM_001004058		Approved		uc010rja.2	Q8NH50	OTTHUMG00000166820	ENST00000313447.1:c.177G>A	11.37:g.55927617C>T	ENSP00000323853:p.Met59Ile						p.M59I	NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN			1	176	-	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)	59					Q6IFB5	Missense_Mutation	SNP	ENST00000313447.1	37	c.177G>A	CCDS31521.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.581336	0.46006	.	.	ENSG00000181752	ENST00000313447	T	0.09350	2.99	3.87	2.95	0.34219	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.44307	0.1287	H	0.96777	3.88	0.32748	N	0.506781	D	0.69078	0.997	D	0.75020	0.985	T	0.65825	-0.6074	9	0.72032	D	0.01	.	11.1653	0.48539	0.0:0.9044:0.0:0.0956	.	59	Q8NH50	OR8K5_HUMAN	I	59	ENSP00000323853:M59I	ENSP00000323853:M59I	M	-	3	0	OR8K5	55684193	1.000000	0.71417	0.832000	0.32986	0.160000	0.22226	5.088000	0.64486	0.962000	0.38057	0.560000	0.71715	ATG		0.398	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391543.1	NM_001004058		4	110	0	0	0	1	0	4	110				
CLIC5	53405	broad.mit.edu	37	6	45917025	45917025	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr6:45917025C>A	ENST00000185206.6	-	3	896	c.744G>T	c.(742-744)gaG>gaT	p.E248D	CLIC5_ENST00000544153.1_Missense_Mutation_p.E89D|CLIC5_ENST00000339561.6_Missense_Mutation_p.E89D	NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5	248					auditory receptor cell stereocilium organization (GO:0060088)|chloride transport (GO:0006821)|diet induced thermogenesis (GO:0002024)|female pregnancy (GO:0007565)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|sensory perception of sound (GO:0007605)|transport (GO:0006810)	actin cytoskeleton (GO:0015629)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|stereocilium (GO:0032420)	voltage-gated chloride channel activity (GO:0005247)			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						CCAGGAACTCCTCGATCTTAT	0.532																																						ENST00000185206.6																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						c.(742-744)gaG>gaT		chloride intracellular channel 5							152.0	147.0	149.0					6																	45917025		2203	4300	6503	SO:0001583	missense	53405				female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity	g.chr6:45917025C>A	AF216941	CCDS4914.1, CCDS47438.1, CCDS59022.1	6p12.3	2014-03-14			ENSG00000112782	ENSG00000112782		"""Ion channels / Chloride channels : Intracellular"""	13517	protein-coding gene	gene with protein product		607293				10793131	Standard	NM_001114086		Approved		uc003oxv.3	Q9NZA1	OTTHUMG00000014775	ENST00000185206.6:c.744G>T	6.37:g.45917025C>A	ENSP00000185206:p.Glu248Asp					CLIC5_ENST00000339561.6_Missense_Mutation_p.E89D|CLIC5_ENST00000544153.1_Missense_Mutation_p.E89D	p.E248D	NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN			3	896	-			248					B3KUF1|Q5T4Z0|Q8NBY3|Q96JT5|Q9BWZ0	Missense_Mutation	SNP	ENST00000185206.6	37	c.744G>T	CCDS47438.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.312548	0.81358	.	.	ENSG00000112782	ENST00000185206;ENST00000339561;ENST00000544153	T;T;T	0.25414	1.8;1.8;1.8	5.73	2.47	0.30058	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.30885	0.0779	M	0.69248	2.105	0.80722	D	1	D;D;D	0.76494	0.972;0.999;0.99	P;D;P	0.76071	0.879;0.987;0.891	T	0.11227	-1.0596	10	0.87932	D	0	.	6.0747	0.19909	0.0:0.5562:0.0:0.4438	.	89;248;89	Q8NBY3;Q9NZA1;Q53G01	.;CLIC5_HUMAN;.	D	248;89;89	ENSP00000185206:E248D;ENSP00000344165:E89D;ENSP00000439195:E89D	ENSP00000185206:E248D	E	-	3	2	CLIC5	46025003	0.568000	0.26635	1.000000	0.80357	0.994000	0.84299	-0.137000	0.10389	0.855000	0.35359	0.655000	0.94253	GAG		0.532	CLIC5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040761.1			39	60	1	0	6.2361e-21	1	7.57927e-21	39	60				
AGPAT6	137964	broad.mit.edu	37	8	41456786	41456786	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr8:41456786G>A	ENST00000396987.3	+	2	1055	c.128G>A	c.(127-129)cGc>cAc	p.R43H		NM_178819.3	NP_848934.1	Q86UL3	GPAT4_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 6	43					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|diacylglycerol metabolic process (GO:0046339)|fatty acid metabolic process (GO:0006631)|glandular epithelial cell maturation (GO:0002071)|glycerophospholipid biosynthetic process (GO:0046474)|lactation (GO:0007595)|lipid biosynthetic process (GO:0008610)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)	p.R43H(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)			TTTGGTATCCGCAAACTCTAC	0.433																																						ENST00000396987.3																			2	Substitution - Missense(2)	p.R43H(2)	kidney(1)|endometrium(1)	endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14						c.(127-129)cGc>cAc		1-acylglycerol-3-phosphate O-acyltransferase 6							143.0	134.0	137.0					8																	41456786		2203	4300	6503	SO:0001583	missense	137964				acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	glycerol-3-phosphate O-acyltransferase activity	g.chr8:41456786G>A	AF406612	CCDS6117.1	8p11.21	2013-02-05	2013-02-05			ENSG00000158669	2.3.1.15	"""1-acylglycerol-3-phosphate O-acyltransferases"""	20880	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, zeta"""	608143	"""1-acylglycerol-3-phosphate O-acyltransferase 6 (lysophosphatidic acid acyltransferase, zeta)"""			12938015	Standard	NM_178819		Approved	DKFZp586M1819, LPAAT-zeta	uc003xnz.2	Q86UL3		ENST00000396987.3:c.128G>A	8.37:g.41456786G>A	ENSP00000380184:p.Arg43His						p.R43H	NM_178819.3	NP_848934.1	Q86UL3	GPAT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)		2	1055	+	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	43					Q86V89	Missense_Mutation	SNP	ENST00000396987.3	37	c.128G>A	CCDS6117.1	.	.	.	.	.	.	.	.	.	.	G	35	5.581895	0.96578	.	.	ENSG00000158669	ENST00000396987	T	0.58797	0.31	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.77658	0.4163	M	0.80183	2.485	0.80722	D	1	D	0.76494	0.999	D	0.65140	0.932	T	0.78979	-0.1990	10	0.72032	D	0.01	.	19.5092	0.95133	0.0:0.0:1.0:0.0	.	43	Q86UL3	GPAT4_HUMAN	H	43	ENSP00000380184:R43H	ENSP00000380184:R43H	R	+	2	0	AGPAT6	41575943	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.869000	0.99810	2.861000	0.98227	0.650000	0.86243	CGC		0.433	AGPAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377158.1	NM_178819		4	114	0	0	0	1	0	4	114				
ADCY8	114	broad.mit.edu	37	8	131812796	131812796	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr8:131812796T>C	ENST00000286355.5	-	15	5028	c.2936A>G	c.(2935-2937)gAt>gGt	p.D979G	ADCY8_ENST00000377928.3_Missense_Mutation_p.D848G	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	979					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CCCAACAGCATCATAGGATTG	0.498										HNSCC(32;0.087)																												ENST00000286355.5																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(2935-2937)gAt>gGt		adenylate cyclase 8 (brain)							136.0	120.0	125.0					8																	131812796		2203	4300	6503	SO:0001583	missense	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131812796T>C	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.2936A>G	8.37:g.131812796T>C	ENSP00000286355:p.Asp979Gly	HNSCC(32;0.087)				ADCY8_ENST00000377928.3_Missense_Mutation_p.D848G	p.D979G	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		15	5028	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		979						Missense_Mutation	SNP	ENST00000286355.5	37	c.2936A>G	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	T	14.69	2.611267	0.46631	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	D;D	0.82255	-1.59;-1.59	5.31	5.31	0.75309	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.048366	0.85682	D	0.000000	D	0.89791	0.6817	M	0.77616	2.38	0.43536	D	0.995824	P;P	0.50943	0.94;0.716	P;P	0.60949	0.881;0.71	D	0.91030	0.4863	10	0.72032	D	0.01	.	14.4386	0.67301	0.0:0.0:0.0:1.0	.	848;979	E7EVL1;P40145	.;ADCY8_HUMAN	G	979;848	ENSP00000286355:D979G;ENSP00000367161:D848G	ENSP00000286355:D979G	D	-	2	0	ADCY8	131881978	1.000000	0.71417	0.976000	0.42696	0.017000	0.09413	8.036000	0.88901	1.997000	0.58415	0.455000	0.32223	GAT		0.498	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			18	44	0	0	0	1	0	18	44				
CAD	790	broad.mit.edu	37	2	27446568	27446568	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr2:27446568A>G	ENST00000403525.1	+	7	1091	c.947A>G	c.(946-948)aAt>aGt	p.N316S	CAD_ENST00000264705.4_Missense_Mutation_p.N316S			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACCAACGCCAATGATGGTTCC	0.537																																						ENST00000264705.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92						c.(946-948)aAt>aGt		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						270.0	256.0	261.0					2																	27446568		2203	4300	6503	SO:0001583	missense	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27446568A>G	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.947A>G	2.37:g.27446568A>G	ENSP00000384510:p.Asn316Ser					CAD_ENST00000403525.1_Missense_Mutation_p.N316S	p.N316S	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN			7	1109	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		316			GATase (Glutamine amidotransferase).|Glutamine amidotransferase type-1.		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37	c.947A>G		.	.	.	.	.	.	.	.	.	.	A	24.0	4.481314	0.84747	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.90955	-2.76;-2.76	5.45	5.45	0.79879	Glutamine amidotransferase type 1 (2);	0.000000	0.85682	D	0.000000	D	0.97303	0.9118	H	0.98866	4.355	0.58432	D	0.999998	D;D	0.89917	1.0;0.997	D;D	0.97110	1.0;0.994	D	0.98483	1.0606	10	0.87932	D	0	-0.0435	13.4523	0.61178	1.0:0.0:0.0:0.0	.	316;316	F8VPD4;P27708	.;PYR1_HUMAN	S	316	ENSP00000264705:N316S;ENSP00000384510:N316S	ENSP00000264705:N316S	N	+	2	0	CAD	27300072	1.000000	0.71417	0.965000	0.40720	0.972000	0.66771	8.694000	0.91293	2.069000	0.61940	0.402000	0.26972	AAT		0.537	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			126	204	0	0	0	1	0	126	204				
B4GALNT2	124872	broad.mit.edu	37	17	47233957	47233957	+	Missense_Mutation	SNP	G	G	A	rs149941656		TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr17:47233957G>A	ENST00000300404.2	+	5	729	c.670G>A	c.(670-672)Gtc>Atc	p.V224I	B4GALNT2_ENST00000504681.1_Missense_Mutation_p.V138I|B4GALNT2_ENST00000393354.2_Missense_Mutation_p.V164I	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	224					lipid glycosylation (GO:0030259)|negative regulation of cell-cell adhesion (GO:0022408)|protein glycosylation (GO:0006486)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)	p.V224I(2)		endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			CGATGCCCCCGTCTATGAGGT	0.572																																					GBM(124;244 1635 8663 18097 33175)	ENST00000300404.2																			2	Substitution - Missense(2)	p.V224I(2)	prostate(1)|skin(1)	endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(670-672)Gtc>Atc		beta-1,4-N-acetyl-galactosaminyl transferase 2		G	ILE/VAL,ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	164.0	146.0	152.0		490,412,670	-2.8	0.0	17	dbSNP_134	152	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	B4GALNT2	NM_001159387.1,NM_001159388.1,NM_153446.2	29,29,29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign,benign,benign	164/507,138/481,224/567	47233957	2,13004	2203	4300	6503	SO:0001583	missense	124872				lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity	g.chr17:47233957G>A	AJ517770	CCDS11544.1, CCDS54139.1, CCDS54140.1	17q21.33	2013-02-22	2006-01-08	2006-01-08	ENSG00000167080	ENSG00000167080	2.4.1.-	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	24136	protein-coding gene	gene with protein product		111730	"""UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase"""	GALGT2		8782649, 12678917	Standard	NM_153446		Approved	Sda, Cad	uc002ion.2	Q8NHY0	OTTHUMG00000161307	ENST00000300404.2:c.670G>A	17.37:g.47233957G>A	ENSP00000300404:p.Val224Ile					B4GALNT2_ENST00000393354.2_Missense_Mutation_p.V164I|B4GALNT2_ENST00000504681.1_Missense_Mutation_p.V138I	p.V224I	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	all cancers(6;0.000316)		5	729	+			224					B4DZE4|Q14CP1|Q86Y40	Missense_Mutation	SNP	ENST00000300404.2	37	c.670G>A	CCDS11544.1	.	.	.	.	.	.	.	.	.	.	G	1.632	-0.518701	0.04171	2.27E-4	1.16E-4	ENSG00000167080	ENST00000504681;ENST00000393354;ENST00000300404	T;T;T	0.28666	1.6;1.6;1.6	3.68	-2.81	0.05805	.	1.009060	0.07979	N	0.985331	T	0.11623	0.0283	N	0.11064	0.09	0.09310	N	1	B;B	0.12630	0.006;0.006	B;B	0.09377	0.004;0.001	T	0.24584	-1.0156	10	0.22706	T	0.39	-1.7795	0.2735	0.00235	0.2963:0.1518:0.2782:0.2737	.	164;224	Q8NHY0-2;Q8NHY0	.;B4GN2_HUMAN	I	138;164;224	ENSP00000425510:V138I;ENSP00000377022:V164I;ENSP00000300404:V224I	ENSP00000300404:V224I	V	+	1	0	B4GALNT2	44588956	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.626000	0.05527	-0.918000	0.03808	-1.119000	0.02030	GTC		0.572	B4GALNT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364477.1	NM_153446		14	56	0	0	0	1	0	14	56				
KCNU1	157855	broad.mit.edu	37	8	36671774	36671774	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr8:36671774T>C	ENST00000399881.3	+	8	819	c.782T>C	c.(781-783)aTa>aCa	p.I261T		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	261					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TCACAGAATATATCATATTTT	0.423																																						ENST00000399881.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57						c.(781-783)aTa>aCa		potassium channel, subfamily U, member 1							68.0	64.0	66.0					8																	36671774		1860	4090	5950	SO:0001583	missense	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36671774T>C	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.782T>C	8.37:g.36671774T>C	ENSP00000382770:p.Ile261Thr						p.I261T	NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	8	819	+			261						Missense_Mutation	SNP	ENST00000399881.3	37	c.782T>C	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	T	14.32	2.500282	0.44455	.	.	ENSG00000215262	ENST00000523973;ENST00000399881	D;D	0.97303	-4.33;-4.33	5.28	5.28	0.74379	Ion transport (1);	0.608295	0.12546	U	0.459482	D	0.95089	0.8409	N	0.13168	0.305	0.80722	D	1	P	0.43231	0.801	P	0.49192	0.602	D	0.94321	0.7553	10	0.87932	D	0	-6.1016	14.176	0.65542	0.0:0.0:0.0:1.0	.	261	A8MYU2	KCNU1_HUMAN	T	261	ENSP00000429951:I261T;ENSP00000382770:I261T	ENSP00000382770:I261T	I	+	2	0	KCNU1	36790932	0.923000	0.31300	0.009000	0.14445	0.067000	0.16453	5.680000	0.68168	1.989000	0.58080	0.383000	0.25322	ATA		0.423	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		6	11	0	0	0	1	0	6	11				
NOS3	4846	broad.mit.edu	37	7	150690908	150690908	+	Missense_Mutation	SNP	G	G	C			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr7:150690908G>C	ENST00000484524.1	+	1	17	c.17G>C	c.(16-18)aGc>aCc	p.S6T	NOS3_ENST00000461406.1_Intron|NOS3_ENST00000297494.3_Missense_Mutation_p.S6T|NOS3_ENST00000467517.1_Missense_Mutation_p.S6T	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AACTTGAAGAGCGTGGCCCAG	0.697																																						ENST00000297494.3																			0				NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(16-18)aGc>aCc		nitric oxide synthase 3 (endothelial cell)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)						14.0	19.0	17.0					7																	150690908		2186	4260	6446	SO:0001583	missense	4846				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr7:150690908G>C		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.17G>C	7.37:g.150690908G>C	ENSP00000420215:p.Ser6Thr					NOS3_ENST00000467517.1_Missense_Mutation_p.S6T|NOS3_ENST00000484524.1_Missense_Mutation_p.S6T|NOS3_ENST00000461406.1_Intron	p.S6T	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	374	+	all_neural(206;0.219)		6					Q495E5	Missense_Mutation	SNP	ENST00000484524.1	37	c.17G>C	CCDS55182.1	.	.	.	.	.	.	.	.	.	.	g	14.71	2.616133	0.46631	.	.	ENSG00000164867	ENST00000297494;ENST00000484576;ENST00000484524;ENST00000467517	T;T;T	0.15603	4.63;2.83;2.41	5.17	5.17	0.71159	.	0.000000	0.52532	D	0.000074	T	0.10252	0.0251	N	0.08118	0	0.28653	N	0.906554	P;P;P;P	0.42409	0.462;0.634;0.634;0.779	B;B;B;B	0.38755	0.173;0.281;0.281;0.206	T	0.07770	-1.0755	10	0.66056	D	0.02	-17.5555	14.2007	0.65703	0.0:0.0:1.0:0.0	.	6;6;6;6	A0S0A6;E9PFR2;A0S0A8;P29474	.;.;.;NOS3_HUMAN	T	6	ENSP00000297494:S6T;ENSP00000420215:S6T;ENSP00000420551:S6T	ENSP00000297494:S6T	S	+	2	0	NOS3	150321841	0.996000	0.38824	0.978000	0.43139	0.944000	0.59088	2.599000	0.46231	2.422000	0.82143	0.579000	0.79373	AGC		0.697	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351550.1	NM_000603		15	24	0	0	0	1	0	15	24				
ACSL4	2182	broad.mit.edu	37	X	108887278	108887278	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chrX:108887278G>A	ENST00000469796.2	-	16	2512	c.2116C>T	c.(2116-2118)Cga>Tga	p.R706*	ACSL4_ENST00000348502.6_Nonsense_Mutation_p.R665*|ACSL4_ENST00000340800.2_Nonsense_Mutation_p.R706*			O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	706					cellular lipid metabolic process (GO:0044255)|dendritic spine development (GO:0060996)|embryonic process involved in female pregnancy (GO:0060136)|fatty acid transport (GO:0015908)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|negative regulation of prostaglandin secretion (GO:0032307)|positive regulation of cell growth (GO:0030307)|response to interleukin-15 (GO:0070672)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|neuronal cell body (GO:0043025)|peroxisome (GO:0005777)	arachidonate-CoA ligase activity (GO:0047676)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Rosiglitazone(DB00412)	CCATACATTCGTTCAATGTCT	0.423																																					Pancreas(188;358 2127 38547 41466 45492)	ENST00000340800.2																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22						c.(2116-2118)Cga>Tga		acyl-CoA synthetase long-chain family member 4	Icosapent(DB00159)|Troglitazone(DB00197)						189.0	156.0	167.0					X																	108887278		2203	4300	6503	SO:0001587	stop_gained	2182				fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chrX:108887278G>A	BC034959	CCDS14548.1, CCDS14549.1	Xq22.3-q23	2008-02-05	2004-02-19	2004-02-20	ENSG00000068366	ENSG00000068366		"""Acyl-CoA synthetase family"""	3571	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", "" long-chain fatty-acid-Coenzyme A ligase 4"""	300157	"""fatty-acid-Coenzyme A ligase, long-chain 4"", ""mental retardation, X-linked 63"", ""mental retardation, X-linked 68"""	FACL4, MRX63, MRX68		9480748, 12949969	Standard	NM_022977		Approved	ACS4, LACS4	uc004eoi.2	O60488	OTTHUMG00000022190	ENST00000469796.2:c.2116C>T	X.37:g.108887278G>A	ENSP00000419171:p.Arg706*					ACSL4_ENST00000469796.2_Nonsense_Mutation_p.R706*|ACSL4_ENST00000348502.6_Nonsense_Mutation_p.R665*	p.R706*	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN			17	2620	-			706					D3DUY2|O60848|O60849|Q5JWV8	Nonsense_Mutation	SNP	ENST00000469796.2	37	c.2116C>T	CCDS14548.1	.	.	.	.	.	.	.	.	.	.	G	41	8.644742	0.98899	.	.	ENSG00000068366	ENST00000348502;ENST00000469796;ENST00000340800	.	.	.	5.29	1.89	0.25635	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.40209	D	0.977603	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.152	14.1426	0.65329	0.0:0.0:0.5317:0.4683	.	.	.	.	X	665;706;706	.	ENSP00000339787:R706X	R	-	1	2	ACSL4	108773934	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.105000	0.31086	0.481000	0.27557	0.600000	0.82982	CGA		0.423	ACSL4-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358155.2	NM_004458		25	37	0	0	0	1	0	25	37				
GBP4	115361	broad.mit.edu	37	1	89659075	89659075	+	Silent	SNP	C	C	T			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr1:89659075C>T	ENST00000355754.6	-	4	481	c.384G>A	c.(382-384)tcG>tcA	p.S128S		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	128	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		CAAAGATCCACGAGTCATTCT	0.433																																						ENST00000355754.6																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33						c.(382-384)tcG>tcA		guanylate binding protein 4							121.0	120.0	120.0					1																	89659075		2203	4300	6503	SO:0001819	synonymous_variant	115361					cytoplasm	GTP binding|GTPase activity	g.chr1:89659075C>T	AF288814	CCDS721.1	1p22.2	2008-02-05			ENSG00000162654	ENSG00000162654			20480	protein-coding gene	gene with protein product		612466				16689661	Standard	NM_052941		Approved	Mpa2	uc001dnb.3	Q96PP9	OTTHUMG00000010663	ENST00000355754.6:c.384G>A	1.37:g.89659075C>T							p.S128S	NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN		all cancers(265;0.00723)|Epithelial(280;0.0291)	4	481	-			128					B2R630|Q05D63|Q6NSL0|Q86T99	Silent	SNP	ENST00000355754.6	37	c.384G>A	CCDS721.1																																																																																				0.433	GBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029409.1	NM_052941		13	67	0	0	0	1	0	13	67				
OVCH1	341350	broad.mit.edu	37	12	29639273	29639273	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr12:29639273G>A	ENST00000318184.5	-	8	900	c.901C>T	c.(901-903)Cgg>Tgg	p.R301W	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	301	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					GGTTGGCCCCGATCCAAACCT	0.388																																						ENST00000318184.5																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92						c.(901-903)Cgg>Tgg		ovochymase 1							68.0	63.0	64.0					12																	29639273		1804	4076	5880	SO:0001583	missense	341350				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:29639273G>A	BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.901C>T	12.37:g.29639273G>A	ENSP00000326708:p.Arg301Trp					OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	p.R301W	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN			8	900	-	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)		301			CUB 1.			Missense_Mutation	SNP	ENST00000318184.5	37	c.901C>T		.	.	.	.	.	.	.	.	.	.	G	4.774	0.143850	0.09134	.	.	ENSG00000187950	ENST00000318184	D	0.87029	-2.2	1.93	-2.47	0.06442	.	.	.	.	.	T	0.68504	0.3008	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.53578	-0.8419	9	0.44086	T	0.13	.	2.891	0.05676	0.422:0.2496:0.3284:0.0	.	301	Q7RTY7	OVCH1_HUMAN	W	301	ENSP00000326708:R301W	ENSP00000326708:R301W	R	-	1	2	OVCH1	29530540	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.266000	0.08631	-0.639000	0.05502	-0.259000	0.10710	CGG		0.388	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378		14	46	0	0	0	1	0	14	46				
B3GALT1	8708	broad.mit.edu	37	2	168725946	168725946	+	Missense_Mutation	SNP	G	G	C			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr2:168725946G>C	ENST00000392690.3	+	1	489	c.397G>C	c.(397-399)Gag>Cag	p.E133Q	B3GALT1_ENST00000305861.1_Missense_Mutation_p.E133Q|AC016723.4_ENST00000430546.1_RNA|AC016723.4_ENST00000436982.2_RNA			Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1	133					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						GGTGGAGCAAGAGAGCCAAAT	0.473																																						ENST00000305861.1																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(397-399)Gag>Cag		UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1							83.0	76.0	78.0					2																	168725946		2203	4300	6503	SO:0001583	missense	8708				lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr2:168725946G>C	E07739	CCDS2227.1	2q24.3	2013-02-19			ENSG00000172318	ENSG00000172318		"""Beta 3-glycosyltransferases"""	916	protein-coding gene	gene with protein product		603093				9582303	Standard	NM_020981		Approved	beta3Gal-T1	uc002udz.1	Q9Y5Z6	OTTHUMG00000132163	ENST00000392690.3:c.397G>C	2.37:g.168725946G>C	ENSP00000376456:p.Glu133Gln					AC016723.4_ENST00000430546.1_RNA|AC016723.4_ENST00000436982.2_RNA|B3GALT1_ENST00000392690.2_Missense_Mutation_p.E133Q	p.E133Q	NM_020981.3	NP_066191.1	Q9Y5Z6	B3GT1_HUMAN			2	748	+			133					D3DPB8|Q53SS2	Missense_Mutation	SNP	ENST00000392690.3	37	c.397G>C	CCDS2227.1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.808557	0.70797	.	.	ENSG00000172318	ENST00000305861;ENST00000392690	T;T	0.59224	0.28;0.28	6.17	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.84933	0.5582	H	0.98005	4.125	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.90866	0.4742	10	0.87932	D	0	-23.5576	15.8705	0.79117	0.0646:0.0:0.9354:0.0	.	133	Q9Y5Z6	B3GT1_HUMAN	Q	133	ENSP00000303740:E133Q;ENSP00000376456:E133Q	ENSP00000303740:E133Q	E	+	1	0	B3GALT1	168434192	1.000000	0.71417	0.994000	0.49952	0.999000	0.98932	9.835000	0.99442	1.631000	0.50456	0.655000	0.94253	GAG		0.473	B3GALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255211.2	NM_020981		40	39	0	0	0	1	0	40	39				
PRL	5617	broad.mit.edu	37	6	22287738	22287738	+	Missense_Mutation	SNP	G	G	T			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr6:22287738G>T	ENST00000306482.1	-	5	1095	c.577C>A	c.(577-579)Ctt>Att	p.L193I	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	193					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|circadian rhythm (GO:0007623)|female pregnancy (GO:0007565)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|multicellular organismal response to stress (GO:0033555)|ovulation cycle (GO:0042698)|parturition (GO:0007567)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of JAK-STAT cascade (GO:0046427)|regulation of multicellular organism growth (GO:0040014)|regulation of ossification (GO:0030278)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	prolactin receptor binding (GO:0005148)			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					TAAGCAGAAAGGCGAGACTCT	0.443																																						ENST00000306482.1																			0				NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16						c.(577-579)Ctt>Att		prolactin							187.0	164.0	172.0					6																	22287738		2203	4300	6503	SO:0001583	missense	5617				cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding	g.chr6:22287738G>T	D00411	CCDS4548.1	6p22.3	2013-09-16			ENSG00000172179	ENSG00000172179			9445	protein-coding gene	gene with protein product		176760					Standard	NM_000948		Approved		uc003ndq.3	P01236	OTTHUMG00000016111	ENST00000306482.1:c.577C>A	6.37:g.22287738G>T	ENSP00000302150:p.Leu193Ile					RP3-404K8.2_ENST00000561912.1_RNA	p.L193I	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN			5	1095	-	Ovarian(93;0.163)		193					Q15199|Q92996	Missense_Mutation	SNP	ENST00000306482.1	37	c.577C>A	CCDS4548.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.949171	0.53186	.	.	ENSG00000172179	ENST00000306482;ENST00000438606	D	0.89746	-2.56	5.42	3.61	0.41365	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.300126	0.36778	N	0.002401	T	0.81069	0.4746	L	0.60904	1.88	0.34032	D	0.653883	B;B	0.15930	0.005;0.015	B;B	0.36030	0.153;0.216	T	0.71119	-0.4685	10	0.18276	T	0.48	-1.1959	12.4722	0.55794	0.0:0.1275:0.7396:0.1328	.	193;194	P01236;Q5I0G2	PRL_HUMAN;.	I	193;162	ENSP00000302150:L193I	ENSP00000302150:L193I	L	-	1	0	PRL	22395717	0.959000	0.32827	0.003000	0.11579	0.988000	0.76386	3.900000	0.56295	0.756000	0.33013	0.655000	0.94253	CTT		0.443	PRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043327.1	NM_000948		4	73	1	0	0.000602214	1	0.000651711	4	73				
IMPG2	50939	broad.mit.edu	37	3	100961732	100961732	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr3:100961732G>A	ENST00000193391.7	-	14	3009	c.2822C>T	c.(2821-2823)tCa>tTa	p.S941L		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	941	SEA 2. {ECO:0000255|PROSITE- ProRule:PRU00188}.				visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	CGTGAGATTTGACTGGAGATA	0.393																																						ENST00000193391.7																			0				NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(2821-2823)tCa>tTa		interphotoreceptor matrix proteoglycan 2							77.0	73.0	75.0					3																	100961732		2203	4300	6503	SO:0001583	missense	50939				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	g.chr3:100961732G>A	AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.2822C>T	3.37:g.100961732G>A	ENSP00000193391:p.Ser941Leu						p.S941L	NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN			14	3009	-			941			SEA 2.		A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	ENST00000193391.7	37	c.2822C>T	CCDS2940.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.972317	0.92919	.	.	ENSG00000081148	ENST00000193391	T	0.35605	1.3	5.17	5.17	0.71159	SEA (3);	0.000000	0.56097	D	0.000031	T	0.61949	0.2388	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.65323	-0.6196	10	0.87932	D	0	-8.6192	19.0484	0.93032	0.0:0.0:1.0:0.0	.	941;941	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	L	941	ENSP00000193391:S941L	ENSP00000193391:S941L	S	-	2	0	IMPG2	102444422	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.310000	0.96267	2.575000	0.86900	0.563000	0.77884	TCA		0.393	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3			23	80	0	0	0	1	0	23	80				
AFP	174	broad.mit.edu	37	4	74306410	74306410	+	Missense_Mutation	SNP	G	G	T			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr4:74306410G>T	ENST00000395792.2	+	4	462	c.362G>T	c.(361-363)aGa>aTa	p.R121I	AFP_ENST00000226359.2_Missense_Mutation_p.R121I	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	121	Albumin 1. {ECO:0000255|PROSITE- ProRule:PRU00769}.				ovulation from ovarian follicle (GO:0001542)|progesterone metabolic process (GO:0042448)|SMAD protein signal transduction (GO:0060395)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GAAGAGGGAAGACATAACTGT	0.438									Alpha-Fetoprotein, Hereditary Persistence of																													ENST00000395792.2																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22						c.(361-363)aGa>aTa		alpha-fetoprotein							97.0	93.0	94.0					4																	74306410		2203	4300	6503	SO:0001583	missense	174	Alpha-Fetoprotein, Hereditary Persistence of	Familial Cancer Database	HPAFP	transport		metal ion binding	g.chr4:74306410G>T	V01514	CCDS3556.1	4q13.3	2012-05-16			ENSG00000081051	ENSG00000081051			317	protein-coding gene	gene with protein product		104150		HPAFP			Standard	NM_001134		Approved	FETA	uc003hgz.1	P02771	OTTHUMG00000130011	ENST00000395792.2:c.362G>T	4.37:g.74306410G>T	ENSP00000379138:p.Arg121Ile					AFP_ENST00000226359.2_Missense_Mutation_p.R121I	p.R121I	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		4	462	+	Breast(15;0.00102)		121			Albumin 1.		B2RBU3	Missense_Mutation	SNP	ENST00000395792.2	37	c.362G>T	CCDS3556.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.196662	0.58126	.	.	ENSG00000081051	ENST00000395792;ENST00000226359	T;T	0.81078	-1.45;-1.45	5.2	5.2	0.72013	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.90403	0.6996	M	0.87758	2.905	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91581	0.5279	10	0.87932	D	0	.	14.1097	0.65113	0.0:0.0:1.0:0.0	.	121	P02771	FETA_HUMAN	I	121	ENSP00000379138:R121I;ENSP00000226359:R121I	ENSP00000226359:R121I	R	+	2	0	AFP	74525274	1.000000	0.71417	0.995000	0.50966	0.255000	0.26057	3.505000	0.53356	2.699000	0.92147	0.655000	0.94253	AGA		0.438	AFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252284.3			12	35	1	0	7.03913e-09	1	8.17781e-09	12	35				
ROR2	4920	broad.mit.edu	37	9	94493426	94493426	+	Missense_Mutation	SNP	A	A	T			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr9:94493426A>T	ENST00000375708.3	-	7	1147	c.949T>A	c.(949-951)Tat>Aat	p.Y317N	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.Y177N	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	317	Kringle. {ECO:0000255|PROSITE- ProRule:PRU00121}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GAGCCGTTATAGCACTGATGG	0.532																																						ENST00000375708.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(949-951)Tat>Aat		receptor tyrosine kinase-like orphan receptor 2							85.0	90.0	89.0					9																	94493426		2203	4300	6503	SO:0001583	missense	4920				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr9:94493426A>T	M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.949T>A	9.37:g.94493426A>T	ENSP00000364860:p.Tyr317Asn					ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.Y177N	p.Y317N	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN			7	1147	-			317			Kringle.		Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	ENST00000375708.3	37	c.949T>A	CCDS6691.1	.	.	.	.	.	.	.	.	.	.	A	18.59	3.655956	0.67586	.	.	ENSG00000169071	ENST00000375715;ENST00000375708	T;T	0.65178	-0.14;-0.14	3.95	3.95	0.45737	Kringle (5);Kringle-like fold (1);	0.000000	0.38436	N	0.001697	D	0.85274	0.5659	H	0.97315	3.98	0.80722	D	1	D;D;D	0.76494	0.996;0.996;0.999	D;D;D	0.77557	0.98;0.948;0.99	D	0.90176	0.4239	10	0.87932	D	0	.	13.2805	0.60212	1.0:0.0:0.0:0.0	.	317;317;177	A1L4F5;Q01974;B1APY4	.;ROR2_HUMAN;.	N	177;317	ENSP00000364867:Y177N;ENSP00000364860:Y317N	ENSP00000364860:Y317N	Y	-	1	0	ROR2	93533247	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	7.117000	0.77129	1.794000	0.52575	0.459000	0.35465	TAT		0.532	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			22	56	0	0	0	1	0	22	56				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	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_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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			44	50	0	0	0	1	0	44	50				
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	A	rs28934576		TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr17:7577120C>A	ENST00000269305.4	-	8	1007	c.818G>T	c.(817-819)cGt>cTt	p.R273L	TP53_ENST00000455263.2_Missense_Mutation_p.R273L|TP53_ENST00000445888.2_Missense_Mutation_p.R273L|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R273L|TP53_ENST00000420246.2_Missense_Mutation_p.R273L	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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"""		669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(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	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576	c.(817-819)cGt>cTt	Other conserved DNA damage response genes	tumor protein p53							67.0	58.0	61.0					17																	7577120		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.chr17:7577120C>A	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.818G>T	17.37:g.7577120C>A	ENSP00000269305:p.Arg273Leu	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_ENST00000445888.2_Missense_Mutation_p.R273L|TP53_ENST00000269305.4_Missense_Mutation_p.R273L|TP53_ENST00000455263.2_Missense_Mutation_p.R273L|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273L	p.R273L	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)	8	950	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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.818G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.554800	0.86231	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99866	-7.3;-7.3;-7.3;-7.3;-7.3;-7.3	4.92	4.92	0.64577	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	0.99871	0.9939	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.77557	0.988;0.987;0.99;0.986	D	0.96378	0.9279	10	0.87932	D	0	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	L	273;273;273;273;273;262;141	ENSP00000352610:R273L;ENSP00000269305:R273L;ENSP00000398846:R273L;ENSP00000391127:R273L;ENSP00000391478:R273L;ENSP00000425104:R141L	ENSP00000269305:R273L	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		20	6	1	0	1.00905e-13	1	1.18977e-13	20	6				
RBL2	5934	broad.mit.edu	37	16	53495680	53495680	+	Silent	SNP	T	T	C			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr16:53495680T>C	ENST00000262133.6	+	10	1511	c.1374T>C	c.(1372-1374)gcT>gcC	p.A458A	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Silent_p.A242A	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	458	Domain A.|Pocket; binds E1A.				chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CAACCCAGGCTATTGCTAACA	0.343																																						ENST00000262133.6																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(1372-1374)gcT>gcC		retinoblastoma-like 2 (p130)							111.0	106.0	108.0					16																	53495680		2198	4299	6497	SO:0001819	synonymous_variant	5934				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr16:53495680T>C	X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.1374T>C	16.37:g.53495680T>C						RBL2_ENST00000544545.1_Silent_p.A242A|RBL2_ENST00000379935.4_3'UTR	p.A458A	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN			10	1511	+			458			Domain A.|Pocket; binds E1A.		B7Z913|Q15073|Q16084|Q8NE70|Q92812	Silent	SNP	ENST00000262133.6	37	c.1374T>C	CCDS10748.1																																																																																				0.343	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3	NM_005611		15	39	0	0	0	1	0	15	39				
NUP160	23279	broad.mit.edu	37	11	47825055	47825055	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr11:47825055C>G	ENST00000378460.2	-	22	2756	c.2710G>C	c.(2710-2712)Gtc>Ctc	p.V904L	RNA5SP340_ENST00000517132.1_RNA|NUP160_ENST00000530326.1_Missense_Mutation_p.V790L|NUP160_ENST00000528071.1_Missense_Mutation_p.V790L	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	904					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						CCAACATTGACTTGACACCAG	0.358																																						ENST00000378460.2																			0				NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						c.(2710-2712)Gtc>Ctc		nucleoporin 160kDa							184.0	157.0	166.0					11																	47825055		2201	4298	6499	SO:0001583	missense	23279				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr11:47825055C>G	D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"""nucleoporin 160kD"""			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.2710G>C	11.37:g.47825055C>G	ENSP00000367721:p.Val904Leu					NUP160_ENST00000530326.1_Missense_Mutation_p.V790L|NUP160_ENST00000528071.1_Missense_Mutation_p.V790L	p.V904L	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN			22	2756	-			904					B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Missense_Mutation	SNP	ENST00000378460.2	37	c.2710G>C	CCDS31484.1	.	.	.	.	.	.	.	.	.	.	C	12.24	1.878533	0.33162	.	.	ENSG00000030066	ENST00000378460;ENST00000530326;ENST00000528071	T;T;T	0.51325	0.71;0.71;0.71	5.75	5.75	0.90469	.	0.130015	0.51477	D	0.000097	T	0.44030	0.1274	L	0.60455	1.87	0.80722	D	1	P	0.36990	0.577	B	0.30646	0.118	T	0.33777	-0.9855	10	0.23302	T	0.38	.	18.4968	0.90867	0.0:1.0:0.0:0.0	.	904	Q12769	NU160_HUMAN	L	904;790;790	ENSP00000367721:V904L;ENSP00000433590:V790L;ENSP00000432367:V790L	ENSP00000367721:V904L	V	-	1	0	NUP160	47781631	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.617000	0.54181	2.711000	0.92665	0.655000	0.94253	GTC		0.358	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390239.2	NM_015231		37	88	0	0	0	1	0	37	88				
TAS2R19	259294	broad.mit.edu	37	12	11174543	11174543	+	Missense_Mutation	SNP	G	G	A	rs202189737		TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr12:11174543G>A	ENST00000390673.2	-	1	676	c.628C>T	c.(628-630)Cgg>Tgg	p.R210W	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	210					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R210W(1)		breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						CTATGGAGCCGCATCTTCTTG	0.403																																						ENST00000390673.2																			1	Substitution - Missense(1)	p.R210W(1)	lung(1)	breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						c.(628-630)Cgg>Tgg		taste receptor, type 2, member 19							146.0	144.0	144.0					12																	11174543		2203	4300	6503	SO:0001583	missense	259294				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11174543G>A	AX097730, AF494234	CCDS8640.1	12p13.2	2012-08-22			ENSG00000212124	ENSG00000212124		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19108	protein-coding gene	gene with protein product		613961	"""taste receptor, type 2, member 48"", ""taste receptor, type 2, member 23"""	TAS2R48, TAS2R23			Standard	NM_176888		Approved	T2R19, T2R23	uc010shj.2	P59542	OTTHUMG00000162687	ENST00000390673.2:c.628C>T	12.37:g.11174543G>A	ENSP00000375091:p.Arg210Trp					PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	p.R210W	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN			1	676	-			210					Q3MIJ4|Q645X8	Missense_Mutation	SNP	ENST00000390673.2	37	c.628C>T	CCDS8640.1	.	.	.	.	.	.	.	.	.	.	G	11.52	1.664227	0.29604	.	.	ENSG00000212124	ENST00000390673	T	0.00873	5.59	2.69	0.739	0.18324	.	2.120730	0.03861	U	0.273979	T	0.03390	0.0098	L	0.58101	1.795	0.09310	N	1	D	0.71674	0.998	D	0.65140	0.932	T	0.36065	-0.9763	10	0.87932	D	0	.	3.8416	0.08917	0.2604:0.1987:0.5409:0.0	.	210	P59542	T2R19_HUMAN	W	210	ENSP00000375091:R210W	ENSP00000375091:R210W	R	-	1	2	TAS2R19	11065810	0.012000	0.17670	0.002000	0.10522	0.028000	0.11728	1.761000	0.38440	-0.004000	0.14419	-1.111000	0.02071	CGG		0.403	TAS2R19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370080.1	NM_176888		4	146	0	0	0	1	0	4	146				
ZNF81	347344	broad.mit.edu	37	X	47774902	47774902	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chrX:47774902G>A	ENST00000376954.1	+	6	1225	c.857G>A	c.(856-858)aGg>aAg	p.R286K	ZNF81_ENST00000338637.7_Missense_Mutation_p.R286K			P51508	ZNF81_HUMAN	zinc finger protein 81	286					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				TTCACCCAGAGGTCACATTTC	0.383																																						ENST00000376954.1																			0				breast(1)|large_intestine(1)|lung(1)|skin(1)	4						c.(856-858)aGg>aAg		zinc finger protein 81							52.0	46.0	48.0					X																	47774902		1863	4086	5949	SO:0001583	missense	347344					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47774902G>A	AK126949	CCDS43933.1	Xp11.23	2013-01-08	2006-05-12		ENSG00000197779	ENSG00000197779		"""Zinc fingers, C2H2-type"", ""-"""	13156	protein-coding gene	gene with protein product		314998	"""zinc finger protein 81 (HFZ20)"", ""mental retardation, X-linked 45"""	MRX45		8507979, 15121780	Standard	NM_007137		Approved	HFZ20	uc022bvq.1	P51508	OTTHUMG00000021462	ENST00000376954.1:c.857G>A	X.37:g.47774902G>A	ENSP00000366153:p.Arg286Lys					ZNF81_ENST00000338637.7_Missense_Mutation_p.R286K	p.R286K			P51508	ZNF81_HUMAN			6	1225	+		all_lung(315;0.0973)	286					Q6RX22|Q96QH6	Missense_Mutation	SNP	ENST00000376954.1	37	c.857G>A	CCDS43933.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.323267	0.00018	.	.	ENSG00000197779	ENST00000376954;ENST00000338637	T;T	0.13901	2.55;2.55	3.92	1.38	0.22167	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.365907	0.20029	N	0.100758	T	0.04861	0.0131	N	0.11023	0.085	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43750	-0.9372	10	0.02654	T	1	.	6.0159	0.19603	0.7437:0.0:0.2563:0.0	.	286	P51508	ZNF81_HUMAN	K	286	ENSP00000366153:R286K;ENSP00000341151:R286K	ENSP00000341151:R286K	R	+	2	0	ZNF81	47659846	0.000000	0.05858	0.058000	0.19502	0.114000	0.19823	-1.257000	0.02866	0.212000	0.20703	-0.354000	0.07668	AGG		0.383	ZNF81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056455.2	NM_007137		6	29	0	0	0	1	0	6	29				
IGHV1-18	28468	broad.mit.edu	37	14	106641673	106641673	+	RNA	SNP	G	G	C			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr14:106641673G>C	ENST00000390605.2	-	0	299									immunoglobulin heavy variable 1-18																		TGGAGCTTCTGTGCATAGTTT	0.542																																						ENST00000390605.2																			0																				214.0	206.0	209.0					14																	106641673		2113	4227	6340			0							g.chr14:106641673G>C	M99641		14q32.33	2012-02-08			ENSG00000211945	ENSG00000211945		"""Immunoglobulins / IGH locus"""	5549	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152276		14.37:g.106641673G>C														0	299	-									RNA	SNP	ENST00000390605.2	37																																																																																						0.542	IGHV1-18-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325664.1	NG_001019		6	252	0	0	0	1	0	6	252				
TRPA1	8989	broad.mit.edu	37	8	72948521	72948521	+	Splice_Site	SNP	A	A	G	rs111533281		TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr8:72948521A>G	ENST00000262209.4	-	21	2763		c.e21+1		RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000537896.1_Intron|TRPA1_ENST00000519720.1_Splice_Site	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1						calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	AGCTTGTTTTACCTTTGAAGA	0.333																																						ENST00000262209.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98						c.e21+1		transient receptor potential cation channel, subfamily A, member 1	Menthol(DB00825)						49.0	50.0	50.0					8																	72948521		2203	4300	6503	SO:0001630	splice_region_variant	8989					integral to plasma membrane		g.chr8:72948521A>G	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.2555+1T>C	8.37:g.72948521A>G						TRPA1_ENST00000519720.1_Splice_Site|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000537896.1_Intron		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		21	2763	-								A6NIN6	Splice_Site	SNP	ENST00000262209.4	37		CCDS34908.1	.	.	.	.	.	.	.	.	.	.	A	13.53	2.264010	0.39995	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	.	.	.	4.7	4.7	0.59300	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4443	0.67340	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TRPA1	73111075	1.000000	0.71417	0.997000	0.53966	0.459000	0.32528	6.797000	0.75150	1.880000	0.54463	0.482000	0.46254	.		0.333	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332	Intron	51	70	0	0	0	1	0	51	70				
OGDHL	55753	broad.mit.edu	37	10	50944446	50944446	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr10:50944446C>A	ENST00000374103.4	-	21	2796	c.2711G>T	c.(2710-2712)aGc>aTc	p.S904I	OGDHL_ENST00000432695.1_Missense_Mutation_p.S695I|OGDHL_ENST00000419399.1_Missense_Mutation_p.S847I|OGDHL_ENST00000490844.1_5'UTR	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	904					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CAGGTCCTGGCTGCTCCGCTC	0.622																																						ENST00000374103.4																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						c.(2710-2712)aGc>aTc		oxoglutarate dehydrogenase-like							120.0	110.0	113.0					10																	50944446		2203	4300	6503	SO:0001583	missense	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50944446C>A	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.2711G>T	10.37:g.50944446C>A	ENSP00000363216:p.Ser904Ile					OGDHL_ENST00000419399.1_Missense_Mutation_p.S847I|OGDHL_ENST00000490844.1_5'UTR|OGDHL_ENST00000432695.1_Missense_Mutation_p.S695I	p.S904I	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN			21	2796	-			904					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	ENST00000374103.4	37	c.2711G>T	CCDS7234.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.338279	0.41398	.	.	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	T;T;T	0.10668	2.85;2.85;2.85	5.19	3.07	0.35406	.	0.387194	0.31134	N	0.008189	T	0.09379	0.0231	L	0.42008	1.315	0.32663	N	0.517784	B;B;B	0.22541	0.021;0.071;0.012	B;B;B	0.28553	0.03;0.091;0.035	T	0.05599	-1.0875	10	0.59425	D	0.04	.	4.1635	0.10296	0.0:0.4922:0.0:0.5078	.	847;695;904	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	I	904;847;695	ENSP00000363216:S904I;ENSP00000401356:S847I;ENSP00000390240:S695I	ENSP00000363216:S904I	S	-	2	0	OGDHL	50614452	0.077000	0.21312	1.000000	0.80357	0.945000	0.59286	0.299000	0.19138	1.191000	0.43056	0.484000	0.47621	AGC		0.622	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245		7	53	1	0	0.00307968	1	0.00324393	7	53				
OR51T1	401665	broad.mit.edu	37	11	4903910	4903910	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr11:4903910T>C	ENST00000322049.1	+	1	781	c.781T>C	c.(781-783)Tct>Cct	p.S261P	OR51T1_ENST00000380378.1_Missense_Mutation_p.S288P|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron			Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GATCAGCCTCTCTTTGGCACA	0.488																																						ENST00000380378.1																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(862-864)Tct>Cct		olfactory receptor, family 51, subfamily T, member 1							111.0	94.0	100.0					11																	4903910		2201	4298	6499	SO:0001583	missense	401665				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4903910T>C	BK004283	CCDS31363.1	11p15.4	2012-08-09			ENSG00000176900	ENSG00000176900		"""GPCR / Class A : Olfactory receptors"""	15205	protein-coding gene	gene with protein product							Standard	NM_001004759		Approved		uc010qyp.2	Q8NGJ9	OTTHUMG00000066507	ENST00000322049.1:c.781T>C	11.37:g.4903910T>C	ENSP00000322679:p.Ser261Pro					MMP26_ENST00000380390.1_Intron|OR51T1_ENST00000322049.1_Missense_Mutation_p.S261P|MMP26_ENST00000477339.1_Intron	p.S288P	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	862	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	261					Q6IFH9	Missense_Mutation	SNP	ENST00000322049.1	37	c.862T>C		.	.	.	.	.	.	.	.	.	.	T	11.20	1.567181	0.28003	.	.	ENSG00000176900	ENST00000380378;ENST00000322049	T;T	0.38240	1.15;1.15	4.86	4.86	0.63082	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43110	D	0.000611	T	0.66790	0.2825	M	0.93462	3.42	0.09310	N	1	D	0.76494	0.999	D	0.83275	0.996	T	0.64871	-0.6305	10	0.87932	D	0	.	10.2162	0.43170	0.0:0.0:0.1665:0.8335	.	261	Q8NGJ9	O51T1_HUMAN	P	288;261	ENSP00000369738:S288P;ENSP00000322679:S261P	ENSP00000322679:S261P	S	+	1	0	OR51T1	4860486	0.000000	0.05858	0.919000	0.36401	0.276000	0.26787	-0.533000	0.06157	2.041000	0.60428	0.402000	0.26972	TCT		0.488	OR51T1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000142180.1	NM_001004759		4	27	0	0	0	1	0	4	27				
ACSF3	197322	broad.mit.edu	37	16	89167609	89167609	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr16:89167609A>G	ENST00000317447.4	+	3	897	c.520A>G	c.(520-522)Atc>Gtc	p.I174V	ACSF3_ENST00000406948.3_Missense_Mutation_p.I174V|ACSF3_ENST00000378345.4_Intron	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	174					fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|malonate catabolic process (GO:0090410)	mitochondrion (GO:0005739)	acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)|malonyl-CoA synthetase activity (GO:0090409)			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		CACACCAGCCATCTACACTGG	0.642																																						ENST00000317447.4																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15						c.(520-522)Atc>Gtc		acyl-CoA synthetase family member 3							17.0	15.0	16.0					16																	89167609		2194	4300	6494	SO:0001583	missense	197322				fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding	g.chr16:89167609A>G	AK075499	CCDS10974.1, CCDS73926.1	16q24.3	2013-01-15			ENSG00000176715	ENSG00000176715		"""Acyl-CoA synthetase family"""	27288	protein-coding gene	gene with protein product	"""malonyl-CoA synthetase"""	614245				17762044, 21846720	Standard	XM_005256293		Approved		uc010cig.2	Q4G176	OTTHUMG00000138044	ENST00000317447.4:c.520A>G	16.37:g.89167609A>G	ENSP00000320646:p.Ile174Val					ACSF3_ENST00000406948.3_Missense_Mutation_p.I174V|ACSF3_ENST00000378345.4_Intron	p.I174V	NM_001127214.2|NM_001243279.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_777577.2	Q4G176	ACSF3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0281)	3	897	+			174					A8K4J8|C9JQL6|Q6INA0|Q8N2F7	Missense_Mutation	SNP	ENST00000317447.4	37	c.520A>G	CCDS10974.1	.	.	.	.	.	.	.	.	.	.	A	0.003	-2.409820	0.00193	.	.	ENSG00000176715	ENST00000317447;ENST00000537290;ENST00000406948	T;T;T	0.48201	0.82;0.82;0.82	5.27	1.14	0.20703	AMP-dependent synthetase/ligase (1);	1.401140	0.05252	N	0.514073	T	0.19644	0.0472	N	0.01649	-0.78	0.09310	N	0.999999	B	0.02656	0.0	B	0.06405	0.002	T	0.18429	-1.0337	10	0.16420	T	0.52	-17.2933	5.723	0.17998	0.3899:0.1293:0.4808:0.0	.	174	Q4G176	ACSF3_HUMAN	V	174	ENSP00000320646:I174V;ENSP00000440734:I174V;ENSP00000384627:I174V	ENSP00000320646:I174V	I	+	1	0	ACSF3	87695110	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	0.029000	0.13666	-0.002000	0.14469	-0.132000	0.14878	ATC		0.642	ACSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269919.1	NM_174917		3	9	0	0	0	1	0	3	9				
AKR1B10	57016	broad.mit.edu	37	7	134221422	134221422	+	Missense_Mutation	SNP	T	T	A	rs182129046	byFrequency	TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr7:134221422T>A	ENST00000359579.4	+	5	770	c.450T>A	c.(448-450)gaT>gaA	p.D150E	AKR1B10_ENST00000475559.1_Intron	NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	150					cellular aldehyde metabolic process (GO:0006081)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|farnesol catabolic process (GO:0016488)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid metabolic process (GO:0008202)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aldo-keto reductase (NADP) activity (GO:0004033)|geranylgeranyl reductase activity (GO:0045550)|indanol dehydrogenase activity (GO:0047718)|retinal dehydrogenase activity (GO:0001758)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						AGCTGGTGGATGAGGGGCTGG	0.522																																						ENST00000359579.4																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						c.(448-450)gaT>gaA		aldo-keto reductase family 1, member B10 (aldose reductase)							69.0	72.0	71.0					7																	134221422		2203	4300	6503	SO:0001583	missense	57016				cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding	g.chr7:134221422T>A	AF052577	CCDS5832.1	7q33	2010-04-08			ENSG00000198074	ENSG00000198074		"""Aldo-keto reductases"""	382	protein-coding gene	gene with protein product	"""aldose reductase-like 1"", ""aldo-keto reductase family 1, member B11 (aldose reductase-like)"", ""aldose reductase-like peptide"", ""aldose reductase-related protein"", ""small intestine reductase"""	604707		AKR1B11		9765596, 9565553	Standard	NM_020299		Approved	AKR1B12, ARL-1, HIS, ARL1, HSI, ALDRLn	uc003vrr.3	O60218	OTTHUMG00000155356	ENST00000359579.4:c.450T>A	7.37:g.134221422T>A	ENSP00000352584:p.Asp150Glu					AKR1B10_ENST00000475559.1_Intron	p.D150E	NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN			5	770	+			150					A4D1P1|O75890|Q6FHF3|Q8IWZ1	Missense_Mutation	SNP	ENST00000359579.4	37	c.450T>A	CCDS5832.1	.	.	.	.	.	.	.	.	.	.	T	12.94	2.087878	0.36855	.	.	ENSG00000198074	ENST00000359579	T	0.16196	2.36	4.75	-8.83	0.00806	Aldo/keto reductase, conserved site (1);NADP-dependent oxidoreductase domain (3);	0.047985	0.85682	N	0.000000	T	0.08403	0.0209	N	0.04959	-0.14	0.34005	D	0.650759	B	0.21452	0.056	B	0.26969	0.075	T	0.05162	-1.0902	10	0.38643	T	0.18	.	21.3866	0.99952	0.0:0.7323:0.0:0.2677	.	150	O60218	AK1BA_HUMAN	E	150	ENSP00000352584:D150E	ENSP00000352584:D150E	D	+	3	2	AKR1B10	133871962	0.000000	0.05858	0.009000	0.14445	0.687000	0.40016	-3.420000	0.00477	-2.675000	0.00411	-2.437000	0.00212	GAT		0.522	AKR1B10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339615.1	NM_020299		36	66	0	0	0	1	0	36	66				
PLCB2	5330	broad.mit.edu	37	15	40587217	40587217	+	Missense_Mutation	SNP	C	C	T	rs376425228		TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr15:40587217C>T	ENST00000260402.3	-	18	2075	c.1826G>A	c.(1825-1827)cGc>cAc	p.R609H	PLCB2_ENST00000456256.2_Missense_Mutation_p.R609H|PLCB2_ENST00000557821.1_Missense_Mutation_p.R605H	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	609	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GGAGTCCATGCGGGTTCCCTT	0.567																																						ENST00000260402.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39						c.(1825-1827)cGc>cAc		phospholipase C, beta 2		C	HIS/ARG	1,4397	2.1+/-5.4	0,1,2198	144.0	155.0	151.0		1826	4.8	1.0	15		151	0,8600		0,0,4300	no	missense	PLCB2	NM_004573.2	29	0,1,6498	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	609/1186	40587217	1,12997	2199	4300	6499	SO:0001583	missense	5330				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr15:40587217C>T		CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.1826G>A	15.37:g.40587217C>T	ENSP00000260402:p.Arg609His					PLCB2_ENST00000456256.2_Missense_Mutation_p.R609H|PLCB2_ENST00000557821.1_Missense_Mutation_p.R605H	p.R609H	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)	18	2075	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	609			PI-PLC Y-box.		A8K6J2|B9EGH5	Missense_Mutation	SNP	ENST00000260402.3	37	c.1826G>A	CCDS42020.1	.	.	.	.	.	.	.	.	.	.	C	33	5.212674	0.95069	2.27E-4	0.0	ENSG00000137841	ENST00000260402;ENST00000456256	D;D	0.83250	-1.7;-1.7	4.76	4.76	0.60689	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.000000	0.85682	D	0.000000	D	0.94574	0.8252	H	0.97635	4.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.96368	0.9271	10	0.87932	D	0	.	18.3147	0.90215	0.0:1.0:0.0:0.0	.	609;605;609	B9EGH5;Q00722-2;Q00722	.;.;PLCB2_HUMAN	H	609	ENSP00000260402:R609H;ENSP00000411991:R609H	ENSP00000260402:R609H	R	-	2	0	PLCB2	38374509	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.609000	0.82925	2.642000	0.89623	0.655000	0.94253	CGC		0.567	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1			4	150	0	0	0	1	0	4	150				
PLXDC2	84898	broad.mit.edu	37	10	20453451	20453451	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr10:20453451C>A	ENST00000377252.4	+	7	1679	c.838C>A	c.(838-840)Ctg>Atg	p.L280M	PLXDC2_ENST00000377242.3_Missense_Mutation_p.L231M|PLXDC2_ENST00000377238.2_3'UTR	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	280					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						GAAAGTCGGACTGTCCGATGC	0.423																																						ENST00000377252.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						c.(838-840)Ctg>Atg		plexin domain containing 2							129.0	102.0	111.0					10																	20453451		2203	4300	6503	SO:0001583	missense	84898					integral to membrane		g.chr10:20453451C>A	AF378757	CCDS7132.1, CCDS60497.1	10p12.33	2006-04-12			ENSG00000120594	ENSG00000120594			21013	protein-coding gene	gene with protein product	"""tumor endothelial marker 7-related precursor"""	606827				11559528	Standard	NM_001282736		Approved	TEM7R, FLJ14623	uc001iqg.1	Q6UX71	OTTHUMG00000017781	ENST00000377252.4:c.838C>A	10.37:g.20453451C>A	ENSP00000366460:p.Leu280Met					PLXDC2_ENST00000377238.2_3'UTR|PLXDC2_ENST00000377242.3_Missense_Mutation_p.L231M	p.L280M	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN			7	1679	+			280					Q96E59|Q96PD9|Q96SU9	Missense_Mutation	SNP	ENST00000377252.4	37	c.838C>A	CCDS7132.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.693209	0.68386	.	.	ENSG00000120594	ENST00000377252;ENST00000377242;ENST00000377238;ENST00000536022	T;T	0.78707	-1.2;-1.2	5.7	3.5	0.40072	.	0.000000	0.85682	D	0.000000	D	0.84401	0.5464	M	0.61703	1.905	0.58432	D	0.999999	D;D	0.64830	0.994;0.99	D;D	0.68192	0.956;0.911	D	0.85287	0.1065	10	0.56958	D	0.05	.	12.5745	0.56355	0.0:0.84:0.0:0.16	.	231;280	Q6UX71-2;Q6UX71	.;PXDC2_HUMAN	M	280;231;143;266	ENSP00000366460:L280M;ENSP00000366450:L231M	ENSP00000366446:L143M	L	+	1	2	PLXDC2	20493457	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	2.782000	0.47758	1.391000	0.46566	0.460000	0.39030	CTG		0.423	PLXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047101.2	NM_032812		5	210	1	0	0.217242	1	0.217242	5	210				
KIFC3	3801	broad.mit.edu	37	16	57803769	57803769	+	Silent	SNP	G	G	T			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr16:57803769G>T	ENST00000379655.4	-	8	1295	c.1038C>A	c.(1036-1038)gcC>gcA	p.A346A	KIFC3_ENST00000540079.2_Silent_p.A244A|KIFC3_ENST00000421376.2_Silent_p.A207A|KIFC3_ENST00000539578.1_Silent_p.A288A|KIFC3_ENST00000465878.2_Silent_p.A207A|KIFC3_ENST00000541240.1_Silent_p.A368A|KIFC3_ENST00000562903.1_Silent_p.A207A|KIFC3_ENST00000445690.2_Silent_p.A346A|KIFC3_ENST00000543930.1_Silent_p.A207A|KIFC3_ENST00000566975.1_5'Flank	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	346					ATP catabolic process (GO:0006200)|epithelial cell-cell adhesion (GO:0090136)|Golgi organization (GO:0007030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|visual perception (GO:0007601)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|zonula adherens (GO:0005915)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				CTCTGGCAAAGGCCTCCTCAA	0.627																																						ENST00000379655.4																			0				breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1036-1038)gcC>gcA		kinesin family member C3							65.0	53.0	57.0					16																	57803769		2198	4300	6498	SO:0001819	synonymous_variant	3801				epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity	g.chr16:57803769G>T	BC001211	CCDS10789.2, CCDS45493.1, CCDS45494.1	16q13-q21	2008-02-05			ENSG00000140859	ENSG00000140859		"""Kinesins"""	6326	protein-coding gene	gene with protein product		604535				9782090	Standard	NM_001130099		Approved		uc002emp.3	Q9BVG8	OTTHUMG00000133455	ENST00000379655.4:c.1038C>A	16.37:g.57803769G>T						KIFC3_ENST00000465878.2_Silent_p.A207A|KIFC3_ENST00000445690.2_Silent_p.A346A|KIFC3_ENST00000539578.1_Silent_p.A288A|KIFC3_ENST00000540079.2_Silent_p.A244A|KIFC3_ENST00000541240.1_Silent_p.A368A|KIFC3_ENST00000562903.1_Silent_p.A207A|KIFC3_ENST00000421376.2_Silent_p.A207A|KIFC3_ENST00000543930.1_Silent_p.A207A	p.A346A	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN			8	1295	-		all_neural(199;0.224)	346					A8K6S2|B7Z484|O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	Silent	SNP	ENST00000379655.4	37	c.1038C>A	CCDS10789.2																																																																																				0.627	KIFC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257329.2	NM_005550		3	46	1	0	0.004672	1	0.00485642	3	46				
TSSC2	650368	broad.mit.edu	37	11	3427885	3427885	+	RNA	SNP	A	A	G			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr11:3427885A>G	ENST00000529482.1	+	0	1002									tumor suppressing subtransferable candidate 2 pseudogene																		AGCTTCACAGATCCACCGCTG	0.587																																						ENST00000529482.1																			0																																																			0							g.chr11:3427885A>G			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427885A>G														0	1002	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			4	15	0	0	0	1	0	4	15				
NOA1	84273	broad.mit.edu	37	4	57829700	57829700	+	Missense_Mutation	SNP	G	G	C	rs531624777		TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr4:57829700G>C	ENST00000264230.4	-	7	3250	c.2013C>G	c.(2011-2013)atC>atG	p.I671M	RP11-738E22.3_ENST00000602820.1_lincRNA	NM_032313.2	NP_115689.1	Q8NC60	NOA1_HUMAN	nitric oxide associated 1	671					apoptotic process (GO:0006915)|GTP catabolic process (GO:0006184)|mitochondrial translation (GO:0032543)|regulation of cell death (GO:0010941)|regulation of cellular respiration (GO:0043457)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)										CACTTTTCTTGATGCGCTGTC	0.458																																						ENST00000264230.4																			0											c.(2011-2013)atC>atG		nitric oxide associated 1							172.0	175.0	174.0					4																	57829700		2203	4300	6503	SO:0001583	missense	84273						GTP binding	g.chr4:57829700G>C	AK098215	CCDS3510.1	4q12	2013-05-24	2011-10-19	2011-10-19	ENSG00000084092	ENSG00000084092			28473	protein-coding gene	gene with protein product	"""nitric oxide synthase, mitochondrial (putative)"", ""mitochondrial GTPase 3 homolog (S. cerevisiae)"""	614919	"""chromosome 4 open reading frame 14"""	C4orf14		16380119, 2118999, 21771794, 22447445	Standard	NM_032313		Approved	MGC3232, hAtNOS1, hNOA1, MTG3	uc003hck.3	Q8NC60	OTTHUMG00000128773	ENST00000264230.4:c.2013C>G	4.37:g.57829700G>C	ENSP00000264230:p.Ile671Met						p.I671M	NM_032313.2	NP_115689.1	Q8NC60	CD014_HUMAN			7	3250	-			671					Q8N7L6|Q9BSQ9	Missense_Mutation	SNP	ENST00000264230.4	37	c.2013C>G	CCDS3510.1	.	.	.	.	.	.	.	.	.	.	G	12.57	1.976766	0.34848	.	.	ENSG00000084092	ENST00000264230	T	0.37584	1.19	5.41	3.67	0.42095	.	0.235047	0.42420	N	0.000720	T	0.36026	0.0952	M	0.85630	2.765	0.38174	D	0.939407	B	0.34372	0.451	B	0.23716	0.048	T	0.36016	-0.9765	10	0.51188	T	0.08	.	6.9972	0.24789	0.1468:0.2691:0.5841:0.0	.	671	Q8NC60	CD014_HUMAN	M	671	ENSP00000264230:I671M	ENSP00000264230:I671M	I	-	3	3	C4orf14	57524457	1.000000	0.71417	0.807000	0.32361	0.950000	0.60333	3.286000	0.51724	0.734000	0.32515	0.655000	0.94253	ATC		0.458	NOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250694.2	NM_032313		98	254	0	0	0	1	0	98	254				
ZP2	7783	broad.mit.edu	37	16	21212761	21212761	+	Silent	SNP	G	G	T			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr16:21212761G>T	ENST00000574002.1	-	15	2105	c.1623C>A	c.(1621-1623)gtC>gtA	p.V541V	ZP2_ENST00000574091.1_Silent_p.V532V|AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000219593.4_Silent_p.V541V			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	541	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				binding of sperm to zona pellucida (GO:0007339)|intracellular protein transport (GO:0006886)|multicellular organism reproduction (GO:0032504)|prevention of polyspermy (GO:0060468)|signal transduction (GO:0007165)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|coreceptor activity (GO:0015026)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		AGTCATCTAAGACCAGCTTGA	0.512																																						ENST00000574002.1																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41						c.(1621-1623)gtC>gtA		zona pellucida glycoprotein 2 (sperm receptor)							211.0	183.0	193.0					16																	21212761		2200	4300	6500	SO:0001819	synonymous_variant	7783				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity	g.chr16:21212761G>T	M90366	CCDS10596.1, CCDS73843.1	16p12	2014-07-04			ENSG00000103310	ENSG00000103310		"""Zona pellucida glycoproteins"""	13188	protein-coding gene	gene with protein product		182888				8385033	Standard	XM_005255562		Approved	ZPA	uc002dii.2	Q05996	OTTHUMG00000090681	ENST00000574002.1:c.1623C>A	16.37:g.21212761G>T						AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000219593.4_Silent_p.V541V|ZP2_ENST00000574091.1_Silent_p.V532V	p.V541V			Q05996	ZP2_HUMAN		GBM - Glioblastoma multiforme(48;0.0573)	15	2105	-			541			ZP.		B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Silent	SNP	ENST00000574002.1	37	c.1623C>A	CCDS10596.1																																																																																				0.512	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207365.2			14	49	1	0	0.00185496	1	0.00198029	14	49				
GLI2	2736	broad.mit.edu	37	2	121747054	121747054	+	Silent	SNP	G	G	T	rs140392004		TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr2:121747054G>T	ENST00000452319.1	+	14	3624	c.3564G>T	c.(3562-3564)ccG>ccT	p.P1188P	GLI2_ENST00000314490.11_Intron|GLI2_ENST00000361492.4_Silent_p.P1188P					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GCTACAGTCCGCAAGGCCTAC	0.677													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15727	0.0		0.0	False		,,,				2504	0.0					ENST00000452319.1																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(3562-3564)ccG>ccT		GLI family zinc finger 2		G		1,4355		0,1,2177	17.0	20.0	19.0		3564	-1.9	0.0	2	dbSNP_134	19	0,8548		0,0,4274	no	coding-synonymous	GLI2	NM_005270.4		0,1,6451	TT,TG,GG		0.0,0.023,0.0077		1188/1587	121747054	1,12903	2178	4274	6452	SO:0001819	synonymous_variant	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121747054G>T		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.3564G>T	2.37:g.121747054G>T						GLI2_ENST00000361492.4_Silent_p.P1188P|GLI2_ENST00000314490.11_Intron	p.P1188P			P10070	GLI2_HUMAN			14	3624	+	Renal(3;0.0496)	Prostate(154;0.0623)	1188						Silent	SNP	ENST00000452319.1	37	c.3564G>T	CCDS33283.1																																																																																				0.677	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		3	36	1	0	0.115264	1	0.118258	3	36				
PTEN	5728	broad.mit.edu	37	10	89711890	89711890	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr10:89711890A>G	ENST00000371953.3	+	6	1865	c.508A>G	c.(508-510)Agt>Ggt	p.S170G		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	170	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		S -> N (loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|S -> R (in BRRS; severely reduced protein phosphatase activity; loss of phosphatase activity towards Ins(1,3,4,5)P4). {ECO:0000269|PubMed:10400993, ECO:0000269|PubMed:11494117, ECO:0000269|PubMed:9241266}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.V166fs*10(1)|p.G165_*404del(1)|p.S170fs*13(1)|p.S170G(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AACTATTCCCAGTCAGAGGCG	0.353		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		58	Whole gene deletion(37)|Deletion - Frameshift(11)|Complex - frameshift(4)|Unknown(4)|Deletion - In frame(1)|Substitution - Missense(1)	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.V166fs*10(1)|p.G165_*404del(1)|p.S170fs*13(1)|p.S170G(1)	prostate(16)|central_nervous_system(14)|skin(8)|lung(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(508-510)Agt>Ggt		phosphatase and tensin homolog							119.0	123.0	122.0					10																	89711890		2203	4300	6503	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89711890A>G	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.508A>G	10.37:g.89711890A>G	ENSP00000361021:p.Ser170Gly	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.S170G	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	6	1865	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	170		S -> N (loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|S -> R (in BZS; severely reduced protein phosphatase activity; loss of phosphatase activity towards Ins(1,3,4,5)P4).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.508A>G	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	A	26.9	4.779579	0.90195	.	.	ENSG00000171862	ENST00000371953	D	0.98717	-5.09	5.74	5.74	0.90152	Phosphatase tensin type (1);	0.077988	0.85682	D	0.000000	D	0.99429	0.9798	H	0.96489	3.83	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.98397	1.0566	9	.	.	.	-3.8658	16.0449	0.80714	1.0:0.0:0.0:0.0	.	170	P60484	PTEN_HUMAN	G	170	ENSP00000361021:S170G	.	S	+	1	0	PTEN	89701870	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.862000	0.92283	2.198000	0.70561	0.482000	0.46254	AGT		0.353	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		33	53	0	0	0	1	0	33	53				
MON2	23041	broad.mit.edu	37	12	62918870	62918870	+	Missense_Mutation	SNP	T	T	G			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr12:62918870T>G	ENST00000393632.2	+	10	1507	c.1116T>G	c.(1114-1116)ttT>ttG	p.F372L	MON2_ENST00000393629.2_Missense_Mutation_p.F372L|MON2_ENST00000552738.1_Missense_Mutation_p.F372L|MON2_ENST00000552115.1_Missense_Mutation_p.F372L|MON2_ENST00000280379.6_Missense_Mutation_p.F372L|MON2_ENST00000546600.1_Missense_Mutation_p.F372L|MON2_ENST00000393630.3_Missense_Mutation_p.F372L	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	372					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		ACAGGTCATTTTGTCAGTCCT	0.303																																						ENST00000393630.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57						c.(1114-1116)ttT>ttG		MON2 homolog (S. cerevisiae)							79.0	76.0	77.0					12																	62918870		2203	4299	6502	SO:0001583	missense	23041				Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding	g.chr12:62918870T>G		CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"""MON2 homolog (yeast)"""			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.1116T>G	12.37:g.62918870T>G	ENSP00000377252:p.Phe372Leu					MON2_ENST00000280379.6_Missense_Mutation_p.F372L|MON2_ENST00000552115.1_Missense_Mutation_p.F372L|MON2_ENST00000546600.1_Missense_Mutation_p.F372L|MON2_ENST00000393629.2_Missense_Mutation_p.F372L|MON2_ENST00000552738.1_Missense_Mutation_p.F372L|MON2_ENST00000393632.2_Missense_Mutation_p.F372L	p.F372L	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)	10	1507	+			372					A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Missense_Mutation	SNP	ENST00000393632.2	37	c.1116T>G	CCDS31849.1	.	.	.	.	.	.	.	.	.	.	T	15.18	2.756909	0.49362	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000261188;ENST00000552738;ENST00000393629;ENST00000552115	T;T;T;T;T;T;T	0.55930	0.49;1.25;1.25;0.49;0.49;1.25;1.25	5.55	1.8	0.24995	.	0.000000	0.85682	D	0.000000	T	0.46776	0.1410	L	0.35854	1.095	0.58432	D	0.999999	P;P;B;P	0.49307	0.922;0.46;0.285;0.905	P;B;B;P	0.49853	0.583;0.174;0.204;0.624	T	0.22556	-1.0213	9	.	.	.	-19.7549	9.3288	0.38010	0.0:0.3499:0.0:0.6501	.	372;372;372;372	B9EGP5;F8VWA6;F8W1Z6;Q7Z3U7-4	.;.;.;.	L	372;372;372;372;300;372;372;372	ENSP00000377252:F372L;ENSP00000377250:F372L;ENSP00000280379:F372L;ENSP00000447407:F372L;ENSP00000449215:F372L;ENSP00000377249:F372L;ENSP00000446635:F372L	.	F	+	3	2	MON2	61205137	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	2.128000	0.42045	0.117000	0.18138	-0.274000	0.10170	TTT		0.303	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026		45	45	0	0	0	1	0	45	45				
HMBOX1	79618	broad.mit.edu	37	8	28837639	28837639	+	Silent	SNP	G	G	A			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr8:28837639G>A	ENST00000397358.3	+	5	1256	c.552G>A	c.(550-552)cgG>cgA	p.R184R	HMBOX1_ENST00000403668.2_Silent_p.R184R|HMBOX1_ENST00000287701.10_Silent_p.R184R|HMBOX1_ENST00000523613.1_Silent_p.R184R|HMBOX1_ENST00000524238.1_Silent_p.R184R|HMBOX1_ENST00000519047.1_Silent_p.R184R|HMBOX1_ENST00000558662.1_Silent_p.R184R|HMBOX1_ENST00000444075.1_Silent_p.R184R|HMBOX1_ENST00000355231.5_Silent_p.R184R	NM_024567.3	NP_078843.2	Q6NT76	HMBX1_HUMAN	homeobox containing 1	184					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	11		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		TTGCCAATCGGAGGATTTCCC	0.433																																						ENST00000397358.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	11						c.(550-552)cgG>cgA		homeobox containing 1							247.0	236.0	240.0					8																	28837639		2203	4300	6503	SO:0001819	synonymous_variant	79618				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr8:28837639G>A	AY522342	CCDS6071.1	8p12	2013-05-23			ENSG00000147421	ENSG00000147421		"""Homeoboxes / HNF class"""	26137	protein-coding gene	gene with protein product	"""homeobox telomere-binding protein 1"""					16825764	Standard	NM_024567		Approved	HNF1LA, PBHNF, FLJ21616, HOT1	uc003xhd.4	Q6NT76	OTTHUMG00000172138	ENST00000397358.3:c.552G>A	8.37:g.28837639G>A						HMBOX1_ENST00000519047.1_Silent_p.R184R|HMBOX1_ENST00000355231.5_Silent_p.R184R|HMBOX1_ENST00000287701.10_Silent_p.R184R|HMBOX1_ENST00000444075.1_Silent_p.R184R|HMBOX1_ENST00000558662.1_Silent_p.R184R|HMBOX1_ENST00000524238.1_Silent_p.R184R|HMBOX1_ENST00000523613.1_Silent_p.R184R|HMBOX1_ENST00000403668.2_Silent_p.R184R	p.R184R	NM_024567.3	NP_078843.2	Q6NT76	HMBX1_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)	5	1256	+		Ovarian(32;0.0192)	184					A4K385|A8K3R8|B4DHY5|D3DSU0|Q3Y6P1|Q96GS5|Q9H701	Silent	SNP	ENST00000397358.3	37	c.552G>A	CCDS6071.1																																																																																				0.433	HMBOX1-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255267.4	NM_024567		7	145	0	0	0	1	0	7	145				
SPATA31D1	389763	broad.mit.edu	37	9	84606222	84606222	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr9:84606222C>A	ENST00000344803.2	+	4	884	c.837C>A	c.(835-837)tgC>tgA	p.C279*		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	279					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CCACCCTATGCCAAGATATTT	0.502																																						ENST00000344803.2																			0											c.(835-837)tgC>tgA		SPATA31 subfamily D, member 1							336.0	288.0	303.0					9																	84606222		1981	4159	6140	SO:0001587	stop_gained	389763							g.chr9:84606222C>A		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.837C>A	9.37:g.84606222C>A	ENSP00000341988:p.Cys279*						p.C279*	NM_001001670.2	NP_001001670.1					4	884	+									Nonsense_Mutation	SNP	ENST00000344803.2	37	c.837C>A	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.908203	0.52333	.	.	ENSG00000214929	ENST00000344803	.	.	.	2.4	-0.0578	0.13800	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	2.7013	0.05149	0.0:0.4646:0.2908:0.2446	.	.	.	.	X	279	.	ENSP00000341988:C279X	C	+	3	2	FAM75D1	83796042	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	-0.432000	0.06956	0.002000	0.14630	0.650000	0.86243	TGC		0.502	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		17	241	1	0	5.3912e-06	1	6.17254e-06	17	241				
FRAS1	80144	broad.mit.edu	37	4	79443927	79443927	+	Silent	SNP	A	A	G			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr4:79443927A>G	ENST00000264895.6	+	69	11213	c.10773A>G	c.(10771-10773)ccA>ccG	p.P3591P		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3587					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TTGATTCTCCACATCAACTCT	0.443																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(10771-10773)ccA>ccG		Fraser syndrome 1							43.0	43.0	43.0					4																	79443927		1853	4095	5948	SO:0001819	synonymous_variant	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79443927A>G	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.10773A>G	4.37:g.79443927A>G							p.P3591P	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			69	11213	+			3586					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000264895.6	37	c.10773A>G	CCDS54771.1	.	.	.	.	.	.	.	.	.	.	A	0.064	-1.217022	0.01542	.	.	ENSG00000138759	ENST00000512123	.	.	.	5.81	-11.6	0.00059	.	.	.	.	.	T	0.38825	0.1055	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55823	-0.8080	4	.	.	.	.	3.418	0.07382	0.1806:0.4227:0.1914:0.2053	.	.	.	.	A	1820	.	.	T	+	1	0	FRAS1	79662951	0.010000	0.17322	0.001000	0.08648	0.023000	0.10783	-0.976000	0.03786	-4.497000	0.00045	-0.912000	0.02778	ACA		0.443	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				7	21	0	0	0	1	0	7	21				
FAT1	2195	broad.mit.edu	37	4	187630588	187630588	+	Silent	SNP	G	G	T			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr4:187630588G>T	ENST00000441802.2	-	2	603	c.394C>A	c.(394-396)Cga>Aga	p.R132R		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	132	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R132*(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACCTTTGTTCGCGCCTCCACA	0.413										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			1	Substitution - Nonsense(1)	p.R132*(1)	upper_aerodigestive_tract(1)	NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(394-396)Cga>Aga		FAT atypical cadherin 1							146.0	152.0	150.0					4																	187630588		2075	4225	6300	SO:0001819	synonymous_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187630588G>T	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.394C>A	4.37:g.187630588G>T		HNSCC(5;0.00058)					p.R132R	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			2	603	-			132			Cadherin 1.			Silent	SNP	ENST00000441802.2	37	c.394C>A	CCDS47177.1																																																																																				0.413	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		43	81	1	0	7.05377e-20	1	8.44315e-20	43	81				
TRIM56	81844	broad.mit.edu	37	7	100732732	100732732	+	Silent	SNP	A	A	G			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr7:100732732A>G	ENST00000306085.6	+	3	2436	c.2139A>G	c.(2137-2139)ggA>ggG	p.G713G		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	713					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of type I interferon production (GO:0032481)|protein K63-linked ubiquitination (GO:0070534)|regulation of type I interferon production (GO:0032479)|response to type I interferon (GO:0034340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					CCCTCCTTGGAGACTTCCTGA	0.582																																					Ovarian(89;1092 1379 22756 38989 39611)	ENST00000306085.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(2137-2139)ggA>ggG		tripartite motif containing 56							66.0	65.0	65.0					7																	100732732		1911	4122	6033	SO:0001819	synonymous_variant	81844				defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr7:100732732A>G	BK000511	CCDS43625.1	7q11.2	2013-01-09	2011-01-25		ENSG00000169871	ENSG00000169871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19028	protein-coding gene	gene with protein product			"""tripartite motif-containing 56"""				Standard	NM_030961		Approved	RNF109	uc003uxq.3	Q9BRZ2	OTTHUMG00000157032	ENST00000306085.6:c.2139A>G	7.37:g.100732732A>G							p.G713G	NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN			3	2436	+	Lung NSC(181;0.136)|all_lung(186;0.182)		713					Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	Silent	SNP	ENST00000306085.6	37	c.2139A>G	CCDS43625.1																																																																																				0.582	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347185.1	NM_030961		11	35	0	0	0	1	0	11	35				
RBFOX1	54715	broad.mit.edu	37	16	7760682	7760682	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr16:7760682C>T	ENST00000550418.1	+	16	2117	c.1129C>T	c.(1129-1131)Ctc>Ttc	p.L377F	RBFOX1_ENST00000355637.4_3'UTR|RBFOX1_ENST00000340209.4_Missense_Mutation_p.L382F|RBFOX1_ENST00000311745.5_Missense_Mutation_p.L398F|RBFOX1_ENST00000547372.1_3'UTR|RBFOX1_ENST00000436368.2_Intron|RBFOX1_ENST00000552089.1_3'UTR|RBFOX1_ENST00000553186.1_Missense_Mutation_p.L350F|RBFOX1_ENST00000547338.1_Missense_Mutation_p.L377F	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	377					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						TGATGTGGGTCTCGTTCTTTC	0.423																																					Ovarian(157;934 2567 15163 39509)	ENST00000340209.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						c.(1144-1146)Ctc>Ttc		RNA binding protein, fox-1 homolog (C. elegans) 1							230.0	202.0	212.0					16																	7760682		2197	4300	6497	SO:0001583	missense	54715				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	g.chr16:7760682C>T	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.1129C>T	16.37:g.7760682C>T	ENSP00000450031:p.Leu377Phe					RBFOX1_ENST00000436368.2_Intron|RBFOX1_ENST00000547338.1_Missense_Mutation_p.L377F|RBFOX1_ENST00000355637.4_3'UTR|RBFOX1_ENST00000311745.5_Missense_Mutation_p.L398F|RBFOX1_ENST00000550418.1_Missense_Mutation_p.L377F|RBFOX1_ENST00000553186.1_Missense_Mutation_p.L350F|RBFOX1_ENST00000552089.1_3'UTR|RBFOX1_ENST00000547372.1_3'UTR	p.L382F			Q9NWB1	RFOX1_HUMAN			13	1441	+			377					Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	ENST00000550418.1	37	c.1144C>T	CCDS55983.1	.	.	.	.	.	.	.	.	.	.	C	11.23	1.577293	0.28092	.	.	ENSG00000078328	ENST00000550418;ENST00000553186;ENST00000547338;ENST00000311745;ENST00000352951;ENST00000340209	T;T;T;T;T	0.33654	1.4;1.74;1.4;1.75;1.41	5.95	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.30070	0.0753	L	0.29908	0.895	0.53005	D	0.999965	B;B;B;B	0.17465	0.022;0.022;0.002;0.003	B;B;B;B	0.21546	0.02;0.035;0.003;0.002	T	0.04427	-1.0952	10	0.40728	T	0.16	-10.4557	15.0167	0.71591	0.0:0.9321:0.0:0.0679	.	371;398;350;377	F8WAC5;Q9NWB1-2;Q9NWB1-3;Q9NWB1	.;.;.;RFOX1_HUMAN	F	377;350;377;398;371;382	ENSP00000450031:L377F;ENSP00000447753:L350F;ENSP00000447717:L377F;ENSP00000309117:L398F;ENSP00000344196:L382F	ENSP00000309117:L398F	L	+	1	0	RBFOX1	7700683	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.126000	0.77201	1.532000	0.49169	0.609000	0.83330	CTC		0.423	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891		4	143	0	0	0	1	0	4	143				
ATP12A	479	broad.mit.edu	37	13	25264609	25264609	+	Splice_Site	SNP	G	G	C	rs12866274		TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr13:25264609G>C	ENST00000381946.3	+	6	847	c.680G>C	c.(679-681)cGg>cCg	p.R227P	ATP12A_ENST00000218548.6_Splice_Site_p.R227P			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	227				Missing (in Ref. 7; CAA49477). {ECO:0000305}.	ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		CAGGGGTGTCGGGTAAGCGGC	0.572																																					Pancreas(156;1582 1935 18898 22665 26498)	ENST00000218548.6																			0				breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74						c.e6+1		ATPase, H+/K+ transporting, nongastric, alpha polypeptide	Esomeprazole(DB00736)|Pantoprazole(DB00213)						82.0	82.0	82.0					13																	25264609		2203	4300	6503	SO:0001630	splice_region_variant	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25264609G>C	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.681+1G>C	13.37:g.25264609G>C						ATP12A_ENST00000381946.3_Splice_Site_p.R227_splice	p.R227_splice	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	6	1013	+		Lung SC(185;0.0225)|Breast(139;0.077)	227	Missing (in Ref. 7; CAA49477).				Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Splice_Site	SNP	ENST00000381946.3	37	c.681_splice	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	G	9.682	1.149568	0.21288	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.90732	-2.72;-2.72	4.75	0.997	0.19851	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.243627	0.35124	N	0.003435	D	0.88157	0.6361	M	0.77712	2.385	0.31043	N	0.716061	B;B	0.18610	0.029;0.023	B;B	0.13407	0.009;0.006	T	0.83156	-0.0101	10	0.87932	D	0	.	7.6877	0.28550	0.7572:0.0:0.2428:0.0	.	227;227	P54707-2;P54707	.;AT12A_HUMAN	P	227	ENSP00000218548:R227P;ENSP00000371372:R227P	ENSP00000218548:R227P	R	+	2	0	ATP12A	24162609	1.000000	0.71417	0.525000	0.27900	0.029000	0.11900	6.787000	0.75099	0.018000	0.15052	-0.150000	0.13652	CGG		0.572	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676	Missense_Mutation	16	39	0	0	0	1	0	16	39				
ALDH1A3	220	broad.mit.edu	37	15	101432734	101432734	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr15:101432734C>A	ENST00000329841.5	+	4	897	c.365C>A	c.(364-366)aCa>aAa	p.T122K	RP11-66B24.4_ENST00000560351.1_RNA|ALDH1A3_ENST00000346623.6_Intron	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	122					embryonic eye morphogenesis (GO:0048048)|face development (GO:0060324)|inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|nucleus accumbens development (GO:0021768)|olfactory pit development (GO:0060166)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|positive regulation of apoptotic process (GO:0043065)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoic acid metabolic process (GO:0042573)|retinol metabolic process (GO:0042572)|righting reflex (GO:0060013)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|thyroid hormone binding (GO:0070324)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		Vitamin A(DB00162)	ACGATGGATACAGGGAAGCCA	0.468																																						ENST00000329841.5																			0				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27						c.(364-366)aCa>aAa		aldehyde dehydrogenase 1 family, member A3	NADH(DB00157)|Vitamin A(DB00162)						160.0	155.0	157.0					15																	101432734		2203	4300	6503	SO:0001583	missense	220				retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity	g.chr15:101432734C>A	U07919	CCDS10389.1	15q26	2010-05-07			ENSG00000184254	ENSG00000184254	1.2.1.5	"""Aldehyde dehydrogenases"""	409	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 3"""	600463		ALDH6		7698756	Standard	XR_111558		Approved	RALDH3	uc002bwn.4	P47895	OTTHUMG00000149870	ENST00000329841.5:c.365C>A	15.37:g.101432734C>A	ENSP00000332256:p.Thr122Lys					ALDH1A3_ENST00000346623.6_Intron	p.T122K	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		4	897	+	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		122					Q6NT64	Missense_Mutation	SNP	ENST00000329841.5	37	c.365C>A	CCDS10389.1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.996505	0.35226	.	.	ENSG00000184254	ENST00000329841;ENST00000415812	T	0.18810	2.19	5.66	5.66	0.87406	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.044661	0.85682	D	0.000000	T	0.47893	0.1470	M	0.90595	3.13	0.80722	D	1	P	0.35944	0.529	P	0.46850	0.529	T	0.53968	-0.8363	10	0.87932	D	0	.	18.5343	0.91004	0.0:1.0:0.0:0.0	.	122	P47895	AL1A3_HUMAN	K	122	ENSP00000332256:T122K	ENSP00000332256:T122K	T	+	2	0	ALDH1A3	99250257	0.813000	0.29090	0.941000	0.38009	0.354000	0.29330	1.560000	0.36331	2.672000	0.90937	0.555000	0.69702	ACA		0.468	ALDH1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313620.2			4	86	1	0	0.000602214	1	0.000651711	4	86				
PCSK5	5125	broad.mit.edu	37	9	78943022	78943022	+	Silent	SNP	C	C	T			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr9:78943022C>T	ENST00000545128.1	+	32	4894	c.4356C>T	c.(4354-4356)aaC>aaT	p.N1452N		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	1452	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						GCATGGCCAACGAGAAGTGCT	0.592																																						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.(4354-4356)aaC>aaT		proprotein convertase subtilisin/kexin type 5							362.0	312.0	327.0					9																	78943022		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.chr9:78943022C>T		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.4356C>T	9.37:g.78943022C>T							p.N1452N	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN			32	4894	+			674					F5H2G7|Q13527|Q96EP4	Silent	SNP	ENST00000545128.1	37	c.4356C>T	CCDS55320.1																																																																																				0.592	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				9	192	0	0	0	1	0	9	192				
YME1L1	10730	broad.mit.edu	37	10	27400913	27400913	+	Missense_Mutation	SNP	A	A	C			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr10:27400913A>C	ENST00000326799.3	-	20	2463	c.2315T>G	c.(2314-2316)gTg>gGg	p.V772G	YME1L1_ENST00000375972.3_Missense_Mutation_p.V682G|YME1L1_ENST00000376016.3_Missense_Mutation_p.V715G	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	772					cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						TTATCATCTCACTTCCAACTT	0.388																																						ENST00000326799.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(2314-2316)gTg>gGg		YME1-like 1 ATPase							175.0	162.0	166.0					10																	27400913		2203	4300	6503	SO:0001583	missense	10730				protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity	g.chr10:27400913A>C	AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"""ATPases / AAA-type"""	12843	protein-coding gene	gene with protein product		607472	"""YME1 (S.cerevisiae)-like 1"", ""YME1-like 1 (S. cerevisiae)"""			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.2315T>G	10.37:g.27400913A>C	ENSP00000318480:p.Val772Gly					YME1L1_ENST00000376016.3_Missense_Mutation_p.V715G|YME1L1_ENST00000375972.3_Missense_Mutation_p.V682G	p.V772G	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN			20	2463	-			772					B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Missense_Mutation	SNP	ENST00000326799.3	37	c.2315T>G	CCDS7152.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.27|10.27	1.302623|1.302623	0.23736|0.23736	.|.	.|.	ENSG00000136758|ENSG00000136758	ENST00000376016;ENST00000326799;ENST00000375972|ENST00000546122	D;D;D|.	0.92858|.	-3.09;-3.12;-3.09|.	5.53|5.53	4.38|4.38	0.52667|0.52667	Peptidase M41, FtsH (1);|.	.|.	.|.	.|.	.|.	T|.	0.39410|.	0.1077|.	N|N	0.14661|0.14661	0.345|0.345	0.49483|0.49483	D|D	0.999798|0.999798	B;B;B|.	0.18863|.	0.008;0.007;0.031|.	B;B;B|.	0.18263|.	0.007;0.01;0.021|.	T|.	0.15178|.	-1.0446|.	9|.	0.59425|.	D|.	0.04|.	-4.766|-4.766	11.6052|11.6052	0.51029|0.51029	0.7165:0.2835:0.0:0.0|0.7165:0.2835:0.0:0.0	.|.	682;715;772|.	B4DNM1;Q96TA2-2;Q96TA2|.	.;.;YMEL1_HUMAN|.	G|G	715;772;682|517	ENSP00000365184:V715G;ENSP00000318480:V772G;ENSP00000365139:V682G|.	ENSP00000318480:V772G|.	V|X	-|-	2|1	0|0	YME1L1|YME1L1	27440919|27440919	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.718000|0.718000	0.41266|0.41266	3.217000|3.217000	0.51184|0.51184	0.907000|0.907000	0.36646|0.36646	0.533000|0.533000	0.62120|0.62120	GTG|TGA		0.388	YME1L1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047306.1	NM_139312		30	163	0	0	0	1	0	30	163				
AFP	174	broad.mit.edu	37	4	74313361	74313361	+	Missense_Mutation	SNP	T	T	A			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr4:74313361T>A	ENST00000395792.2	+	8	1126	c.1026T>A	c.(1024-1026)ttT>ttA	p.F342L	AFP_ENST00000226359.2_Missense_Mutation_p.F342L	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	342	Albumin 2. {ECO:0000255|PROSITE- ProRule:PRU00769}.				ovulation from ovarian follicle (GO:0001542)|progesterone metabolic process (GO:0042448)|SMAD protein signal transduction (GO:0060395)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTAACCAATTTTCTTCAGGGG	0.343									Alpha-Fetoprotein, Hereditary Persistence of																													ENST00000395792.2																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22						c.(1024-1026)ttT>ttA		alpha-fetoprotein							32.0	33.0	33.0					4																	74313361		2202	4299	6501	SO:0001583	missense	174	Alpha-Fetoprotein, Hereditary Persistence of	Familial Cancer Database	HPAFP	transport		metal ion binding	g.chr4:74313361T>A	V01514	CCDS3556.1	4q13.3	2012-05-16			ENSG00000081051	ENSG00000081051			317	protein-coding gene	gene with protein product		104150		HPAFP			Standard	NM_001134		Approved	FETA	uc003hgz.1	P02771	OTTHUMG00000130011	ENST00000395792.2:c.1026T>A	4.37:g.74313361T>A	ENSP00000379138:p.Phe342Leu					AFP_ENST00000226359.2_Missense_Mutation_p.F342L	p.F342L	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		8	1126	+	Breast(15;0.00102)		342			Albumin 2.		B2RBU3	Missense_Mutation	SNP	ENST00000395792.2	37	c.1026T>A	CCDS3556.1	.	.	.	.	.	.	.	.	.	.	T	7.700	0.692810	0.15039	.	.	ENSG00000081051	ENST00000395792;ENST00000226359	T;T	0.71934	-0.61;-0.61	5.55	1.82	0.25136	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.722818	0.13433	N	0.388263	T	0.47985	0.1475	N	0.21194	0.64	0.09310	N	0.999999	B;B	0.10296	0.003;0.002	B;B	0.14578	0.01;0.011	T	0.25082	-1.0142	10	0.11485	T	0.65	.	3.5073	0.07695	0.1639:0.1738:0.0:0.6623	.	184;342	B4DMX4;P02771	.;FETA_HUMAN	L	342	ENSP00000379138:F342L;ENSP00000226359:F342L	ENSP00000226359:F342L	F	+	3	2	AFP	74532225	0.821000	0.29204	0.084000	0.20598	0.932000	0.56968	0.358000	0.20216	0.181000	0.19994	0.533000	0.62120	TTT		0.343	AFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252284.3			15	39	0	0	0	1	0	15	39				
CPB1	1360	broad.mit.edu	37	3	148545614	148545614	+	Missense_Mutation	SNP	T	T	A			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr3:148545614T>A	ENST00000491148.1	+	2	338	c.4T>A	c.(4-6)Ttg>Atg	p.L2M	CPB1_ENST00000282957.4_Missense_Mutation_p.L2M			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	2						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			AGACACAATGTTGGCACTCTT	0.458																																						ENST00000491148.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(4-6)Ttg>Atg		carboxypeptidase B1 (tissue)							188.0	163.0	171.0					3																	148545614		2203	4300	6503	SO:0001583	missense	1360				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr3:148545614T>A	AJ224866	CCDS33874.1	3q24	2012-02-10			ENSG00000153002	ENSG00000153002	3.4.17.2		2299	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase B"", ""tissue carboxypeptidase B"", ""protaminase"""	114852					Standard	XM_005247124		Approved		uc003ewl.3	P15086	OTTHUMG00000159520	ENST00000491148.1:c.4T>A	3.37:g.148545614T>A	ENSP00000417222:p.Leu2Met					CPB1_ENST00000282957.4_Missense_Mutation_p.L2M	p.L2M			P15086	CBPB1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)		2	338	+			2					O60834|Q53XJ0|Q96BQ8	Missense_Mutation	SNP	ENST00000491148.1	37	c.4T>A	CCDS33874.1	.	.	.	.	.	.	.	.	.	.	T	6.768	0.510532	0.12883	.	.	ENSG00000153002	ENST00000491148;ENST00000494888;ENST00000462345;ENST00000282957;ENST00000468341	T;T;T;T	0.25579	2.73;1.79;2.73;3.76	5.01	-5.37	0.02681	.	0.186657	0.46145	D	0.000310	T	0.19046	0.0457	L	0.36672	1.1	0.20307	N	0.999913	P	0.49447	0.924	P	0.50490	0.642	T	0.22277	-1.0221	10	0.22706	T	0.39	.	7.0088	0.24851	0.1163:0.4218:0.0:0.4619	.	2	P15086	CBPB1_HUMAN	M	2	ENSP00000417222:L2M;ENSP00000417117:L2M;ENSP00000282957:L2M;ENSP00000419427:L2M	ENSP00000282957:L2M	L	+	1	2	CPB1	150028304	0.999000	0.42202	0.034000	0.17996	0.067000	0.16453	0.163000	0.16520	-1.089000	0.03073	-0.408000	0.06270	TTG		0.458	CPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355928.1	NM_001871		11	41	0	0	0	1	0	11	41				
BPIFC	254240	broad.mit.edu	37	22	32813109	32813109	+	Silent	SNP	C	C	T			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr22:32813109C>T	ENST00000397452.1	-	14	1397	c.1287G>A	c.(1285-1287)tcG>tcA	p.S429S	BPIFC_ENST00000534972.1_Silent_p.S153S|BPIFC_ENST00000300399.3_Silent_p.S429S|BPIFC_ENST00000432451.2_Silent_p.S186S			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C	429						extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)										GAAGAATGGACGATAGAATAT	0.383																																						ENST00000397452.1																			0											c.(1285-1287)tcG>tcA		BPI fold containing family C							150.0	158.0	156.0					22																	32813109		2203	4300	6503	SO:0001819	synonymous_variant	254240					extracellular region	lipopolysaccharide binding|phospholipid binding	g.chr22:32813109C>T	AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"""BPI fold containing"""	16503	protein-coding gene	gene with protein product		614109	"""bactericidal/permeability-increasing protein-like 2"""	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.1287G>A	22.37:g.32813109C>T						BPIFC_ENST00000300399.3_Silent_p.S429S|BPIFC_ENST00000432451.2_Silent_p.S186S|BPIFC_ENST00000534972.1_Silent_p.S153S	p.S429S			Q8NFQ6	BPIL2_HUMAN			14	1397	-			429					A2RRF1	Silent	SNP	ENST00000397452.1	37	c.1287G>A	CCDS13906.1																																																																																				0.383	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129029.2	NM_174932		6	158	0	0	0	1	0	6	158				
SYN2	6854	broad.mit.edu	37	3	12046124	12046126	+	RNA	DEL	AGC	AGC	-	rs76272937|rs74800608|rs375843790|rs74185804|rs202010288	byFrequency	TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr3:12046124_12046126delAGC	ENST00000432424.2	+	0	245_247							Q92777	SYN2_HUMAN	synapsin II						neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AGCCCCAGCAAGCGCCGAcgccg	0.764														5004	0.999201	0.9992	1.0	5008	,	,		2724	1.0		0.999	False		,,,				2504	0.998					ENST00000432424.2																			0				breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18								synapsin II																																						6854				neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity	g.chr3:12046124_12046126delAGC		CCDS74900.1, CCDS74901.1	3p25.2	2013-09-20			ENSG00000157152	ENSG00000157152			11495	protein-coding gene	gene with protein product		600755				8530057	Standard	XM_006713311		Approved	SYNII, SYNIIa, SYNIIb	uc003bwm.3	Q92777	OTTHUMG00000155335		3.37:g.12046124_12046126delAGC										Q86VA8	Q86VA8_HUMAN			0	245_247	+								A8MY98	RNA	DEL	ENST00000432424.2	37																																																																																						0.764	SYN2-002	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000339528.3	NM_133625		4	7						4	7	---	---	---	---
PMS2CL	441194	broad.mit.edu	37	7	6754077	6754078	+	RNA	INS	-	-	G	rs377172356|rs556433302	byFrequency	TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr7:6754077_6754078insG	ENST00000486256.1	+	0	346					NR_002217.1		Q68D20	PMS2L_HUMAN	PMS2 C-terminal like pseudogene																		GTTCCGCCCCAGGAGGTTGGAA	0.495													gg|GG|GGG|insertion	7	0.00139776	0.0008	0.0	5008	,	,		18654	0.005		0.0	False		,,,				2504	0.001					ENST00000486256.1																			0																																																			0							g.chr7:6754077_6754078insG	BC041364		7p22.1	2010-10-26			ENSG00000187953	ENSG00000187953			30061	pseudogene	pseudogene	"""postmeiotic segregation increased 2 pseudogene 13"""					15256438, 17253626	Standard	NR_002217		Approved	PMS2P13	uc011jxb.1	Q68D20	OTTHUMG00000151857		7.37:g.6754079_6754079dupG								NR_002217.1						0	346	+								B4DK88|Q764P1	RNA	INS	ENST00000486256.1	37																																																																																						0.495	PMS2CL-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000324193.1	NR_002217		4	6						4	6	---	---	---	---
CCDC132	55610	broad.mit.edu	37	7	92926525	92926526	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr7:92926525_92926526delAA	ENST00000305866.5	+	16	1459_1460	c.1331_1332delAA	c.(1330-1332)caafs	p.Q444fs	CCDC132_ENST00000544910.1_Frame_Shift_Del_p.Q414fs|CCDC132_ENST00000541136.1_Frame_Shift_Del_p.Q255fs|CCDC132_ENST00000317751.6_Frame_Shift_Del_p.Q175fs|CCDC132_ENST00000535481.1_Frame_Shift_Del_p.Q164fs	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	444						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			ATTAGAAAACAAAGTGTCAATT	0.292																																						ENST00000544910.1																			0				endometrium(1)|large_intestine(2)|lung(5)	8						c.(1240-1242)cfs		coiled-coil domain containing 132																																				SO:0001589	frameshift_variant	55610							g.chr7:92926525_92926526delAA	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.1331_1332delAA	7.37:g.92926525_92926526delAA	ENSP00000307666:p.Gln444fs					CCDC132_ENST00000541136.1_Frame_Shift_Del_p.Q255fs|CCDC132_ENST00000535481.1_Frame_Shift_Del_p.Q164fs|CCDC132_ENST00000317751.6_Frame_Shift_Del_p.Q175fs|CCDC132_ENST00000305866.5_Frame_Shift_Del_p.Q444fs	p.Q414fs	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		17	1461_1462	+	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		444					B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Frame_Shift_Del	DEL	ENST00000305866.5	37	c.1241_1242delAA	CCDS43617.1																																																																																				0.292	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667		12	19						12	19	---	---	---	---
EBLN1	340900	broad.mit.edu	37	10	22498484	22498485	+	In_Frame_Ins	INS	-	-	AGA	rs3059425|rs202062346|rs67043646	byFrequency	TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr10:22498484_22498485insAGA	ENST00000422359.2	-	1	465_466	c.428_429insTCT	c.(427-429)ctg>ctTCTg	p.143_143L>LL		NM_001199938.1	NP_001186867.1	P0CF75	EBLN1_HUMAN	endogenous Bornavirus-like nucleoprotein 1	143																	CAATGCCTATCAGATCACAGCA	0.455														1648	0.329073	0.6135	0.3184	5008	,	,		21634	0.2192		0.2535	False		,,,				2504	0.1431					ENST00000422359.2																			0											c.(427-429)cat>cTCTat		endogenous Bornavirus-like nucleoprotein 1																																				SO:0001652	inframe_insertion	340900							g.chr10:22498484_22498485insAGA	AA813437	CCDS60498.1	10p12.31	2013-01-30			ENSG00000223601	ENSG00000223601			39430	protein-coding gene	gene with protein product	"""endogenous Borna-like N element 1"""	613249				20054395, 20686665	Standard	NM_001199938		Approved		uc021pob.1	P0CF75	OTTHUMG00000017801	ENST00000422359.2:c.426_428dupTCT	10.37:g.22498485_22498487dupAGA	ENSP00000473842:p.Leu143dup						p.143_143H>LY	NM_001199938.1	NP_001186867.1					1	465_466	-								S4R316	In_Frame_Ins	INS	ENST00000422359.2	37	c.428_429insTCT																																																																																					0.455	EBLN1-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047154.3	NM_001199938		3	6						3	6	---	---	---	---
FAM83D	81610	broad.mit.edu	37	20	37555323	37555325	+	In_Frame_Del	DEL	GCG	GCG	-	rs570408132	byFrequency	TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr20:37555323_37555325delGCG	ENST00000217429.4	+	1	369_371	c.328_330delGCG	c.(328-330)gcgdel	p.A116del		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	86					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				AGAGGAGGGCgcggcggcggcgg	0.719														78	0.0155751	0.056	0.0029	5008	,	,		15546	0.0		0.0	False		,,,				2504	0.002					ENST00000217429.4																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28						c.(328-330)del		family with sequence similarity 83, member D				14,115,1361		5,0,4,42,31,663						2.4	1.0			2	250,104,3726		71,1,107,26,51,1784	no	codingComplex	FAM83D	NM_030919.2		76,1,111,68,82,2447	A1A1,A1A2,A1R,A2A2,A2R,RR		8.6765,8.6577,8.6715				264,219,5087				SO:0001651	inframe_deletion	81610				cell division|mitosis	cytoplasm|spindle pole		g.chr20:37555323_37555325delGCG	AL023803	CCDS42872.1	20q11.23	2014-03-13	2006-03-23	2006-03-23	ENSG00000101447	ENSG00000101447			16122	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 129"""	C20orf129		23205133	Standard	NM_030919		Approved	dJ616B8.3	uc002xjg.3	Q9H4H8	OTTHUMG00000032462	ENST00000217429.4:c.328_330delGCG	20.37:g.37555332_37555334delGCG	ENSP00000217429:p.Ala116del						p.A116del	NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN			1	369_371	+		Myeloproliferative disorder(115;0.00878)	86					B4E1I7|Q5THR2|Q68EN1|Q6P457|Q7Z6H0|Q96DF5|Q96N89|Q9BVM8	In_Frame_Del	DEL	ENST00000217429.4	37	c.328_330delGCG	CCDS42872.1																																																																																				0.719	FAM83D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079211.1			2	4						2	4	---	---	---	---
