#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
SDR42E1	93517	broad.mit.edu	37	16	82033700	82033700	+	Silent	SNP	T	T	C	rs199633870		TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr16:82033700T>C	ENST00000328945.5	-	3	325	c.198A>G	c.(196-198)aaA>aaG	p.K66K	SDR42E1_ENST00000534209.1_5'UTR	NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	66					steroid biosynthetic process (GO:0006694)	integral component of membrane (GO:0016021)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)			NS(2)|endometrium(1)|lung(4)|skin(3)	10						CCTGGAAGGCTTTCTCTACGT	0.473																																						ENST00000328945.5																			0				NS(2)|endometrium(1)|lung(4)|skin(3)	10						c.(196-198)aaA>aaG		short chain dehydrogenase/reductase family 42E, member 1							144.0	139.0	141.0					16																	82033700		1978	4166	6144	SO:0001819	synonymous_variant	93517				steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding	g.chr16:82033700T>C	AF161368	CCDS42205.1	16q23.3	2011-09-14				ENSG00000184860	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	29834	protein-coding gene	gene with protein product						19027726	Standard	NM_145168		Approved	HSPC105	uc002fgu.3	Q8WUS8		ENST00000328945.5:c.198A>G	16.37:g.82033700T>C						SDR42E1_ENST00000534209.1_5'UTR	p.K66K	NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN			3	325	-			66					B2RDS1|Q9P0D1	Silent	SNP	ENST00000328945.5	37	c.198A>G	CCDS42205.1																																																																																				0.473	SDR42E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388081.2	NM_145168		7	124	0	0	0	1	0	7	124				
ATP11A	23250	broad.mit.edu	37	13	113536317	113536317	+	3'UTR	SNP	A	A	G			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr13:113536317A>G	ENST00000487903.1	+	0	3693				ATP11A_ENST00000375630.2_Missense_Mutation_p.H1172R|ATP11A_ENST00000375645.3_3'UTR			P98196	AT11A_HUMAN	ATPase, class VI, type 11A						phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				GGTTCCCATCACCACTGCAGT	0.627																																						ENST00000375630.2																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51						c.(3514-3516)cAc>cGc		ATPase, class VI, type 11A							179.0	166.0	170.0					13																	113536317		2203	4300	6503	SO:0001624	3_prime_UTR_variant	23250				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:113536317A>G	AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"""ATPases / P-type"""	13552	protein-coding gene	gene with protein product	"""potential phospholipid-transporting ATPase IH"", ""phospholipid-translocating ATPase"""	605868	"""ATPase, Class VI, type 11A"""			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.*200A>G	13.37:g.113536317A>G						ATP11A_ENST00000487903.1_3'UTR|ATP11A_ENST00000375645.3_3'UTR	p.H1172R	NM_032189.3	NP_115565.3	P98196	AT11A_HUMAN			29	3603	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)	0					Q5VXT2	Missense_Mutation	SNP	ENST00000487903.1	37	c.3515A>G	CCDS32011.1	.	.	.	.	.	.	.	.	.	.	A	12.47	1.946963	0.34377	.	.	ENSG00000068650	ENST00000375630;ENST00000419631	T;T	0.39997	1.05;2.23	3.13	-0.435	0.12279	.	6.488870	0.01203	N	0.007636	T	0.21631	0.0521	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.09818	-1.0657	10	0.14252	T	0.57	.	4.6431	0.12560	0.5214:0.3525:0.1261:0.0	.	1172	E9PEJ6	.	R	1172;164	ENSP00000364781:H1172R;ENSP00000410824:H164R	ENSP00000364781:H1172R	H	+	2	0	ATP11A	112584318	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.143000	0.16115	-0.345000	0.08325	0.402000	0.26972	CAC		0.627	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205		23	37	0	0	0	1	0	23	37				
OR1L4	254973	broad.mit.edu	37	9	125486748	125486748	+	Silent	SNP	C	C	T			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr9:125486748C>T	ENST00000259466.1	+	1	480	c.480C>T	c.(478-480)cgC>cgT	p.R160R		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	160						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						CCCTGTTCCGCGTGCTACTTA	0.478																																						ENST00000259466.1																			0				breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						c.(478-480)cgC>cgT		olfactory receptor, family 1, subfamily L, member 4							184.0	158.0	167.0					9																	125486748		2203	4297	6500	SO:0001819	synonymous_variant	254973				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125486748C>T		CCDS35129.1	9q33.2	2013-09-20			ENSG00000136939	ENSG00000136939		"""GPCR / Class A : Olfactory receptors"""	8216	protein-coding gene	gene with protein product				OR1L5			Standard	NM_001005235		Approved	OR9-E	uc004bmu.1	Q8NGR5	OTTHUMG00000020620	ENST00000259466.1:c.480C>T	9.37:g.125486748C>T							p.R160R	NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN			1	480	+			160					Q6IFN0|Q96R81	Silent	SNP	ENST00000259466.1	37	c.480C>T	CCDS35129.1																																																																																				0.478	OR1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053951.1			17	170	0	0	0	1	0	17	170				
RPIA	22934	broad.mit.edu	37	2	89049582	89049582	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr2:89049582A>C	ENST00000283646.4	+	9	978	c.923A>C	c.(922-924)aAg>aCg	p.K308T		NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	308					carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|ribose phosphate metabolic process (GO:0019693)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	monosaccharide binding (GO:0048029)|ribose-5-phosphate isomerase activity (GO:0004751)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				ATGAGGGAGAAGCCTTTCTGT	0.532																																						ENST00000283646.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						c.(922-924)aAg>aCg		ribose 5-phosphate isomerase A							114.0	116.0	115.0					2																	89049582		2102	4211	6313	SO:0001583	missense	22934				pentose-phosphate shunt, non-oxidative branch	cytosol	ribose-5-phosphate isomerase activity	g.chr2:89049582A>C	L35035	CCDS2004.2	2p11.2	2008-07-31	2008-07-31		ENSG00000153574	ENSG00000153574	5.3.1.6		10297	protein-coding gene	gene with protein product	"""ribose 5-phosphate epimerase"""	180430				7758956	Standard	NM_144563		Approved		uc002ste.3	P49247	OTTHUMG00000130333	ENST00000283646.4:c.923A>C	2.37:g.89049582A>C	ENSP00000283646:p.Lys308Thr						p.K308T	NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN			9	978	+		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)	308					Q541P9|Q96BJ6	Missense_Mutation	SNP	ENST00000283646.4	37	c.923A>C	CCDS2004.2	.	.	.	.	.	.	.	.	.	.	A	14.76	2.630799	0.46944	.	.	ENSG00000153574	ENST00000283646;ENST00000543560	T	0.79653	-1.29	5.95	2.37	0.29283	.	0.309227	0.39210	N	0.001433	T	0.66963	0.2843	L	0.39147	1.195	0.45704	D	0.998615	P	0.41041	0.736	B	0.30646	0.118	T	0.66284	-0.5962	10	0.87932	D	0	-15.3572	9.4448	0.38690	0.7339:0.0:0.2661:0.0	.	308	P49247	RPIA_HUMAN	T	308;174	ENSP00000283646:K308T	ENSP00000283646:K308T	K	+	2	0	RPIA	88830697	0.998000	0.40836	1.000000	0.80357	0.985000	0.73830	1.565000	0.36386	0.522000	0.28464	0.460000	0.39030	AAG		0.532	RPIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252683.2			3	22	0	0	0	1	0	3	22				
TRPC7	57113	broad.mit.edu	37	5	135692453	135692453	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr5:135692453C>T	ENST00000513104.1	-	2	905	c.623G>A	c.(622-624)cGg>cAg	p.R208Q	TRPC7_ENST00000355180.3_Missense_Mutation_p.R208Q|TRPC7_ENST00000426057.2_Missense_Mutation_p.R208Q	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	208					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGAGTCTTTCCGCTGTTTCTC	0.597																																						ENST00000513104.1																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46						c.(622-624)cGg>cAg		transient receptor potential cation channel, subfamily C, member 7							59.0	65.0	63.0					5																	135692453		2157	4270	6427	SO:0001583	missense	57113				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	g.chr5:135692453C>T	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.623G>A	5.37:g.135692453C>T	ENSP00000426070:p.Arg208Gln					TRPC7_ENST00000426057.2_Missense_Mutation_p.R208Q|TRPC7_ENST00000355180.3_Missense_Mutation_p.R208Q	p.R208Q	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		2	905	-			208					A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	ENST00000513104.1	37	c.623G>A	CCDS47267.2	.	.	.	.	.	.	.	.	.	.	C	12.16	1.853859	0.32791	.	.	ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193	T;T;T	0.75821	-0.97;-0.97;-0.97	5.26	5.26	0.73747	Transient receptor potential II (1);	0.095855	0.64402	D	0.000001	T	0.50086	0.1595	N	0.14661	0.345	0.24581	N	0.99387	P;B;B;B	0.40681	0.727;0.216;0.067;0.018	B;B;B;B	0.29663	0.105;0.024;0.104;0.028	T	0.45862	-0.9232	10	0.15499	T	0.54	-17.3199	12.3971	0.55391	0.0:0.9239:0.0:0.0761	.	208;208;208;208	Q8IWP7;F5H5U9;Q70T25;Q9HCX4	.;.;.;TRPC7_HUMAN	Q	208	ENSP00000347312:R208Q;ENSP00000441628:R208Q;ENSP00000426070:R208Q	ENSP00000265193:R208Q	R	-	2	0	TRPC7	135720352	0.997000	0.39634	0.997000	0.53966	0.753000	0.42808	2.032000	0.41127	2.731000	0.93534	0.650000	0.86243	CGG		0.597	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389		11	25	0	0	0	1	0	11	25				
RP11-156P1.3	0	broad.mit.edu	37	17	45128812	45128812	+	RNA	SNP	C	C	T			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr17:45128812C>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AGTCCTGTTTCTGTGTGGATT	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128812C>T																													17.37:g.45128812C>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			3	28	0	0	0	1	0	3	28				
CPNE4	131034	broad.mit.edu	37	3	131388554	131388554	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr3:131388554A>G	ENST00000512055.1	-	11	2772	c.646T>C	c.(646-648)Tct>Cct	p.S216P	CPNE4_ENST00000429747.1_Missense_Mutation_p.S216P|CPNE4_ENST00000502818.1_Missense_Mutation_p.S234P|CPNE4_ENST00000511604.1_Missense_Mutation_p.S216P|CPNE4_ENST00000512332.1_Missense_Mutation_p.S234P			Q96A23	CPNE4_HUMAN	copine IV	216	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						CTGCATAGAGAATTTACAGAT	0.398																																						ENST00000512055.1																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						c.(646-648)Tct>Cct		copine IV							90.0	101.0	97.0					3																	131388554		2203	4300	6503	SO:0001583	missense	131034							g.chr3:131388554A>G	H29499	CCDS3072.1, CCDS75010.1	3q22.1	2014-09-04			ENSG00000196353	ENSG00000196353			2317	protein-coding gene	gene with protein product	"""copine 8"""	604208				9430674, 12670487	Standard	XM_005247107		Approved	COPN4, CPN4	uc003eok.3	Q96A23	OTTHUMG00000159631	ENST00000512055.1:c.646T>C	3.37:g.131388554A>G	ENSP00000421705:p.Ser216Pro					CPNE4_ENST00000511604.1_Missense_Mutation_p.S216P|CPNE4_ENST00000512332.1_Missense_Mutation_p.S234P|CPNE4_ENST00000429747.1_Missense_Mutation_p.S216P|CPNE4_ENST00000502818.1_Missense_Mutation_p.S234P	p.S216P			Q96A23	CPNE4_HUMAN			11	2772	-			216			C2 2.		D3DNC5|Q8TEX1	Missense_Mutation	SNP	ENST00000512055.1	37	c.646T>C	CCDS3072.1	.	.	.	.	.	.	.	.	.	.	A	18.70	3.680505	0.68042	.	.	ENSG00000196353	ENST00000512055;ENST00000429747;ENST00000512332;ENST00000511604;ENST00000502818	T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07	5.66	5.66	0.87406	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.048439	0.85682	D	0.000000	T	0.61527	0.2354	M	0.77486	2.375	0.58432	D	0.999996	P;D	0.54601	0.855;0.967	P;P	0.59424	0.742;0.857	T	0.66456	-0.5919	10	0.72032	D	0.01	-15.118	13.4295	0.61046	1.0:0.0:0.0:0.0	.	234;216	Q96A23-2;Q96A23	.;CPNE4_HUMAN	P	216;216;234;216;234	ENSP00000421705:S216P;ENSP00000411904:S216P;ENSP00000424853:S234P;ENSP00000423811:S216P;ENSP00000421646:S234P	ENSP00000411904:S216P	S	-	1	0	CPNE4	132871244	1.000000	0.71417	0.986000	0.45419	0.853000	0.48598	4.850000	0.62889	2.161000	0.67846	0.533000	0.62120	TCT		0.398	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356583.4	NM_130808		24	109	0	0	0	1	0	24	109				
WNK3	65267	broad.mit.edu	37	X	54321052	54321052	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chrX:54321052C>A	ENST00000375159.2	-	7	1626	c.1627G>T	c.(1627-1629)Gtt>Ttt	p.V543F	WNK3_ENST00000354646.2_Missense_Mutation_p.V543F|WNK3_ENST00000375169.3_Missense_Mutation_p.V543F			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	543					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TGTTGATCAACTTCAGTTTCT	0.453																																						ENST00000354646.2																			0				autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(1627-1629)Gtt>Ttt		WNK lysine deficient protein kinase 3							76.0	58.0	64.0					X																	54321052		2203	4300	6503	SO:0001583	missense	65267				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	g.chrX:54321052C>A	AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.1627G>T	X.37:g.54321052C>A	ENSP00000364301:p.Val543Phe					WNK3_ENST00000375159.2_Missense_Mutation_p.V543F|WNK3_ENST00000375169.3_Missense_Mutation_p.V543F	p.V543F	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN			8	2065	-			543					B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	ENST00000375159.2	37	c.1627G>T	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.971952	0.74246	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.64618	-0.11;-0.11;-0.11	5.04	5.04	0.67666	.	0.146450	0.31221	N	0.008028	T	0.71298	0.3323	L	0.36672	1.1	0.34132	D	0.665424	D;D	0.71674	0.998;0.997	D;D	0.74674	0.984;0.945	T	0.80507	-0.1352	10	0.72032	D	0.01	-12.4994	16.1887	0.81972	0.0:1.0:0.0:0.0	.	543;543	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	F	543	ENSP00000364312:V543F;ENSP00000346667:V543F;ENSP00000364301:V543F	ENSP00000346667:V543F	V	-	1	0	WNK3	54337777	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.029000	0.57253	2.072000	0.62099	0.594000	0.82650	GTT		0.453	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		5	17	1	0	0.0293803	1	0.0307158	5	17				
KATNAL1	84056	broad.mit.edu	37	13	30857773	30857773	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr13:30857773T>C	ENST00000380615.3	-	2	309	c.142A>G	c.(142-144)Atc>Gtc	p.I48V	RNU6-64P_ENST00000517119.1_RNA|KATNAL1_ENST00000380617.3_Missense_Mutation_p.I48V	NM_032116.4	NP_115492.1			katanin p60 subunit A-like 1											autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		TTGCCTTTGATAGCTGGATCT	0.398																																						ENST00000380615.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19						c.(142-144)Atc>Gtc		katanin p60 subunit A-like 1							246.0	222.0	231.0					13																	30857773		2203	4300	6503	SO:0001583	missense	84056					cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity	g.chr13:30857773T>C	AK097423	CCDS31956.1	13q12.3	2010-04-21			ENSG00000102781	ENSG00000102781		"""ATPases / AAA-type"""	28361	protein-coding gene	gene with protein product		614764				12477932	Standard	NM_001014380		Approved	MGC2599	uc001uss.4	Q9BW62	OTTHUMG00000016665	ENST00000380615.3:c.142A>G	13.37:g.30857773T>C	ENSP00000369989:p.Ile48Val					KATNAL1_ENST00000380617.3_Missense_Mutation_p.I48V	p.I48V	NM_032116.4	NP_115492.1	Q9BW62	KATL1_HUMAN		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)	2	309	-		Lung SC(185;0.0257)	48						Missense_Mutation	SNP	ENST00000380615.3	37	c.142A>G	CCDS31956.1	.	.	.	.	.	.	.	.	.	.	T	0.017	-1.509760	0.00984	.	.	ENSG00000102781	ENST00000380615;ENST00000380617;ENST00000414289;ENST00000441394	T;T;T;T	0.21543	2.0;2.0;2.0;2.0	5.37	1.08	0.20341	.	0.571831	0.18784	N	0.131252	T	0.07188	0.0182	N	0.02539	-0.55	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.34129	-0.9841	10	0.29301	T	0.29	-0.7885	7.0712	0.25179	0.0:0.541:0.123:0.336	.	48	Q9BW62	KATL1_HUMAN	V	48	ENSP00000369989:I48V;ENSP00000369991:I48V;ENSP00000397776:I48V;ENSP00000407792:I48V	ENSP00000369989:I48V	I	-	1	0	KATNAL1	29755773	0.020000	0.18652	0.219000	0.23793	0.751000	0.42716	0.143000	0.16115	-0.044000	0.13491	-0.326000	0.08463	ATC		0.398	KATNAL1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044346.2	NM_032116		33	120	0	0	0	1	0	33	120				
RET	5979	broad.mit.edu	37	10	43623650	43623650	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr10:43623650A>G	ENST00000355710.3	+	20	3510	c.3278A>G	c.(3277-3279)gAt>gGt	p.D1093G		NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	1093					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	TATCCAAATGATAGTGTATAT	0.438		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	ENST00000355710.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"""T, Mis, N, F"""	ret proto-oncogene	yes	Hirschsprung disease	"""E, O"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	CCDC6/RET(4)|KIF5B/RET(79)	0				NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607						c.(3277-3279)gAt>gGt		ret proto-oncogene	Sunitinib(DB01268)						164.0	143.0	150.0					10																	43623650		2203	4300	6503	SO:0001583	missense	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43623650A>G	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.3278A>G	10.37:g.43623650A>G	ENSP00000347942:p.Asp1093Gly						p.D1093G	NM_020975.4	NP_066124.1	P07949	RET_HUMAN			20	3510	+		Ovarian(717;0.0423)	1093					A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	c.3278A>G	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.228129	0.79576	.	.	ENSG00000165731	ENST00000355710	D	0.81996	-1.56	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.85517	0.5715	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.87595	0.2493	10	0.66056	D	0.02	.	15.6352	0.76946	1.0:0.0:0.0:0.0	.	1093	P07949	RET_HUMAN	G	1093	ENSP00000347942:D1093G	ENSP00000347942:D1093G	D	+	2	0	RET	42943656	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.137000	0.77295	2.096000	0.63516	0.460000	0.39030	GAT		0.438	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		5	99	0	0	0	1	0	5	99				
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	T	rs121913499		TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr2:209113113G>T	ENST00000415913.1	-	4	775	c.394C>A	c.(394-396)Cgt>Agt	p.R132S	IDH1_ENST00000345146.2_Missense_Mutation_p.R132S|IDH1_ENST00000446179.1_Missense_Mutation_p.R132S	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.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(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)		TAAGCATGACGACCTATGATG	0.398			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		679	Substitution - Missense(678)|Complex - compound substitution(1)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(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>Agt		isocitrate dehydrogenase 1 (NADP+), soluble							81.0	74.0	76.0					2																	209113113		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.chr2:209113113G>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.394C>A	2.37:g.209113113G>T	ENSP00000390265:p.Arg132Ser					IDH1_ENST00000345146.2_Missense_Mutation_p.R132S|IDH1_ENST00000446179.1_Missense_Mutation_p.R132S	p.R132S			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	775	-			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.394C>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.588857	0.86851	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.96519	0.8864	H	0.99379	4.54	0.80722	D	1	D	0.57899	0.981	P	0.60682	0.878	D	0.98220	1.0477	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	S	132	ENSP00000260985:R132S;ENSP00000410513:R132S;ENSP00000390265:R132S;ENSP00000391075:R132S	ENSP00000260985:R132S	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			15	20	1	0	1.99824e-07	1	2.18854e-07	15	20				
CELSR1	9620	broad.mit.edu	37	22	46780468	46780468	+	Silent	SNP	G	G	A			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr22:46780468G>A	ENST00000262738.3	-	20	6854	c.6855C>T	c.(6853-6855)gcC>gcT	p.A2285A		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2285					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TGAAGAAGTCGGCTGGGAAGG	0.587																																						ENST00000262738.3																			0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(6853-6855)gcC>gcT		cadherin, EGF LAG seven-pass G-type receptor 1							44.0	48.0	47.0					22																	46780468		2203	4300	6503	SO:0001819	synonymous_variant	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46780468G>A	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.6855C>T	22.37:g.46780468G>A							p.A2285A	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	20	6854	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	2285					O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Silent	SNP	ENST00000262738.3	37	c.6855C>T	CCDS14076.1																																																																																				0.587	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		7	9	0	0	0	1	0	7	9				
WHSC1L1	54904	broad.mit.edu	37	8	38187162	38187162	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr8:38187162C>T	ENST00000317025.8	-	6	1832	c.1315G>A	c.(1315-1317)Gcc>Acc	p.A439T	WHSC1L1_ENST00000527502.1_Missense_Mutation_p.A439T|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.A439T|WHSC1L1_ENST00000316985.3_Missense_Mutation_p.A439T	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	439					histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			AGTGAGGAGGCCACCTCCCCT	0.498			T	NUP98	AML																																	ENST00000317025.8				Dom	yes		8	8p12	54904	T	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)			L	NUP98		AML		0				NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1315-1317)Gcc>Acc		Wolf-Hirschhorn syndrome candidate 1-like 1							107.0	100.0	102.0					8																	38187162		2203	4300	6503	SO:0001583	missense	54904				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding	g.chr8:38187162C>T	AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.1315G>A	8.37:g.38187162C>T	ENSP00000313983:p.Ala439Thr					WHSC1L1_ENST00000433384.2_Missense_Mutation_p.A439T|WHSC1L1_ENST00000316985.3_Missense_Mutation_p.A439T|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.A439T	p.A439T	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)		6	1832	-	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	439					B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Missense_Mutation	SNP	ENST00000317025.8	37	c.1315G>A	CCDS43729.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.808403	0.50421	.	.	ENSG00000147548	ENST00000433384;ENST00000317025;ENST00000446459;ENST00000527502;ENST00000316985	D;D;D;T	0.95103	-3.59;-3.61;-3.61;-0.09	5.6	4.69	0.59074	.	0.285942	0.24564	U	0.037446	D	0.86347	0.5911	N	0.08118	0	0.35456	D	0.796096	B;B;B;B	0.12630	0.001;0.001;0.006;0.001	B;B;B;B	0.14578	0.002;0.003;0.011;0.002	T	0.82717	-0.0319	10	0.12430	T	0.62	.	14.1562	0.65419	0.0:0.8499:0.1501:0.0	.	439;439;439;439	B7ZL11;Q9BZ95-2;Q9BZ95-3;Q9BZ95	.;.;.;NSD3_HUMAN	T	439;439;376;439;439	ENSP00000393284:A439T;ENSP00000313983:A439T;ENSP00000434730:A439T;ENSP00000313410:A439T	ENSP00000313410:A439T	A	-	1	0	WHSC1L1	38306319	0.444000	0.25649	1.000000	0.80357	0.932000	0.56968	1.002000	0.29796	1.296000	0.44742	0.650000	0.86243	GCC		0.498	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		17	107	0	0	0	1	0	17	107				
COL22A1	169044	broad.mit.edu	37	8	139890318	139890318	+	Silent	SNP	G	G	A	rs369045292		TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr8:139890318G>A	ENST00000303045.6	-	3	779	c.333C>T	c.(331-333)caC>caT	p.H111H	COL22A1_ENST00000435777.1_Silent_p.H111H	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	111	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TGTTGCCCCCGTGGTAGGCGA	0.711										HNSCC(7;0.00092)																												ENST00000303045.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(331-333)caC>caT		collagen, type XXII, alpha 1		G		0,4376		0,0,2188	18.0	20.0	19.0		333	-2.9	0.8	8		19	1,8515		0,1,4257	no	coding-synonymous	COL22A1	NM_152888.1		0,1,6445	AA,AG,GG		0.0117,0.0,0.0078		111/1627	139890318	1,12891	2188	4258	6446	SO:0001819	synonymous_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139890318G>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.333C>T	8.37:g.139890318G>A		HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Silent_p.H111H	p.H111H	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		3	779	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		111			VWFA.		B7ZMH0|C9K0G4|Q8IVT9	Silent	SNP	ENST00000303045.6	37	c.333C>T	CCDS6376.1																																																																																				0.711	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		3	9	0	0	0	1	0	3	9				
CCDC141	285025	broad.mit.edu	37	2	179701639	179701639	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr2:179701639G>A	ENST00000420890.2	-	23	4424	c.4307C>T	c.(4306-4308)cCa>cTa	p.P1436L	CCDC141_ENST00000295723.5_Missense_Mutation_p.P861L|CCDC141_ENST00000480419.1_5'UTR	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	1436	Ig-like.									NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TGTAGGCTCTGGAAATCCTGT	0.428																																						ENST00000420890.2																			0				NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78						c.(4306-4308)cCa>cTa		coiled-coil domain containing 141							85.0	83.0	84.0					2																	179701639		2203	4300	6503	SO:0001583	missense	285025						protein binding	g.chr2:179701639G>A	AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.4307C>T	2.37:g.179701639G>A	ENSP00000395995:p.Pro1436Leu					CCDC141_ENST00000295723.5_Missense_Mutation_p.P861L|CCDC141_ENST00000480419.1_5'UTR	p.P1436L	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		23	4424	-			861					H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	ENST00000420890.2	37	c.4307C>T		.	.	.	.	.	.	.	.	.	.	G	27.4	4.829530	0.90955	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723	T;T;T	0.80214	0.83;-1.35;-1.35	6.08	6.08	0.98989	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000015	D	0.93488	0.7922	H	0.95187	3.635	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94292	0.7529	10	0.87932	D	0	-13.3224	20.6721	0.99693	0.0:0.0:1.0:0.0	.	861;861	Q6ZP82;Q6ZP82-2	CC141_HUMAN;.	L	1436;880;861	ENSP00000395995:P1436L;ENSP00000344627:P880L;ENSP00000295723:P861L	ENSP00000295723:P861L	P	-	2	0	CCDC141	179409884	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.131000	0.89601	2.894000	0.99253	0.591000	0.81541	CCA		0.428	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		7	30	0	0	0	1	0	7	30				
PI3	5266	broad.mit.edu	37	20	43804744	43804744	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr20:43804744T>C	ENST00000243924.3	+	2	369	c.322T>C	c.(322-324)Tct>Cct	p.S108P		NM_002638.3	NP_002629.1	P19957	ELAF_HUMAN	peptidase inhibitor 3, skin-derived	108	WAP. {ECO:0000255|PROSITE- ProRule:PRU00722}.				copulation (GO:0007620)|negative regulation of endopeptidase activity (GO:0010951)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			large_intestine(1)|lung(5)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				CTGTGAAGGCTCTTGCGGGAT	0.552																																						ENST00000243924.3																			0				large_intestine(1)|lung(5)|skin(1)	7						c.(322-324)Tct>Cct		peptidase inhibitor 3, skin-derived							103.0	94.0	97.0					20																	43804744		2203	4300	6503	SO:0001583	missense	5266				copulation	proteinaceous extracellular matrix	serine-type endopeptidase inhibitor activity	g.chr20:43804744T>C	D13156	CCDS13344.1	20q13.12	2013-01-21	2008-10-03		ENSG00000124102	ENSG00000124102		"""WAP four-disulfide core domain containing"""	8947	protein-coding gene	gene with protein product	"""skin-derived antileukoproteinase"", ""trappin-2"""	182257	"""protease inhibitor 3, skin-derived (SKALP)"""			8287685, 12206714	Standard	NM_002638		Approved	ESI, SKALP, ELAFIN, WAP3, WFDC14, cementoin	uc002xng.3	P19957	OTTHUMG00000032567	ENST00000243924.3:c.322T>C	20.37:g.43804744T>C	ENSP00000243924:p.Ser108Pro						p.S108P	NM_002638.3	NP_002629.1	P19957	ELAF_HUMAN			2	369	+		Myeloproliferative disorder(115;0.0122)	108			WAP.		E1P618|Q6FG74	Missense_Mutation	SNP	ENST00000243924.3	37	c.322T>C	CCDS13344.1	.	.	.	.	.	.	.	.	.	.	T	10.78	1.447393	0.25987	.	.	ENSG00000124102	ENST00000243924	T	0.74106	-0.81	4.49	-8.98	0.00754	Whey acidic protein, 4-disulphide core (5);4-disulphide core (1);	1.089550	0.07188	N	0.855227	T	0.62036	0.2395	L	0.55990	1.75	0.09310	N	1	B	0.23937	0.094	B	0.24701	0.055	T	0.46992	-0.9151	10	0.35671	T	0.21	.	6.45	0.21898	0.0949:0.3073:0.4781:0.1196	.	108	P19957	ELAF_HUMAN	P	108	ENSP00000243924:S108P	ENSP00000243924:S108P	S	+	1	0	PI3	43238158	0.000000	0.05858	0.000000	0.03702	0.391000	0.30476	-2.117000	0.01326	-2.969000	0.00287	-0.321000	0.08615	TCT		0.552	PI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079418.3	NM_002638		18	51	0	0	0	1	0	18	51				
SBF2	81846	broad.mit.edu	37	11	9810864	9810864	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr11:9810864G>C	ENST00000256190.8	-	35	4861	c.4724C>G	c.(4723-4725)tCt>tGt	p.S1575C	SBF2-AS1_ENST00000525636.1_RNA|SBF2-AS1_ENST00000499953.2_RNA|SBF2-AS1_ENST00000534671.1_RNA|SBF2-AS1_ENST00000498905.2_RNA|SBF2-AS1_ENST00000526617.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1575	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CTTGAGGCTAGAGACGTTTAC	0.473																																						ENST00000256190.8																			0				breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(4723-4725)tCt>tGt		SET binding factor 2							79.0	88.0	85.0					11																	9810864		2201	4294	6495	SO:0001583	missense	81846				myelination	cytoplasm|membrane	phosphatase activity|protein binding	g.chr11:9810864G>C	AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	2135	protein-coding gene	gene with protein product	"""myotubularin related 13"""	607697	"""Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)"", ""DENN/MADD domain containing 7B"""	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.4724C>G	11.37:g.9810864G>C	ENSP00000256190:p.Ser1575Cys					SBF2-AS1_ENST00000498905.2_RNA|SBF2-AS1_ENST00000499953.2_RNA|SBF2-AS1_ENST00000526617.1_RNA|SBF2-AS1_ENST00000534671.1_RNA|SBF2-AS1_ENST00000525636.1_RNA	p.S1575C	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN		all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)	35	4861	-			1575			Myotubularin phosphatase.		Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	ENST00000256190.8	37	c.4724C>G	CCDS31427.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.118295	0.77323	.	.	ENSG00000133812	ENST00000256190	D	0.90261	-2.64	5.89	5.89	0.94794	Myotubularin phosphatase domain (1);	0.095946	0.85682	D	0.000000	D	0.94268	0.8159	M	0.64260	1.97	0.58432	D	0.999999	D	0.71674	0.998	D	0.63033	0.91	D	0.93246	0.6630	10	0.46703	T	0.11	.	20.2617	0.98447	0.0:0.0:1.0:0.0	.	1575	Q86WG5	MTMRD_HUMAN	C	1575	ENSP00000256190:S1575C	ENSP00000256190:S1575C	S	-	2	0	SBF2	9767440	1.000000	0.71417	1.000000	0.80357	0.538000	0.34931	7.642000	0.83385	2.793000	0.96121	0.655000	0.94253	TCT		0.473	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962		7	62	0	0	0	1	0	7	62				
OR2M5	127059	broad.mit.edu	37	1	248309048	248309048	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr1:248309048T>C	ENST00000366476.1	+	1	599	c.599T>C	c.(598-600)tTc>tCc	p.F200S		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	200						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(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			AAGGTTCTTTTCATCTGCTGT	0.428																																						ENST00000366476.1																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49						c.(598-600)tTc>tCc		olfactory receptor, family 2, subfamily M, member 5							274.0	265.0	268.0					1																	248309048		2203	4300	6503	SO:0001583	missense	127059				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248309048T>C		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"""GPCR / Class A : Olfactory receptors"""	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.599T>C	1.37:g.248309048T>C	ENSP00000355432:p.Phe200Ser						p.F200S	NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0388)		1	599	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		200						Missense_Mutation	SNP	ENST00000366476.1	37	c.599T>C	CCDS31105.1	.	.	.	.	.	.	.	.	.	.	t	16.89	3.246647	0.59103	.	.	ENSG00000162727	ENST00000366476	T	0.00174	8.62	3.52	0.806	0.18708	GPCR, rhodopsin-like superfamily (1);	0.273211	0.19540	U	0.111823	T	0.00356	0.0011	M	0.62088	1.915	0.09310	N	1	D	0.71674	0.998	D	0.72625	0.978	T	0.51132	-0.8744	10	0.56958	D	0.05	.	4.0432	0.09761	0.0:0.3095:0.1822:0.5084	.	200	A3KFT3	OR2M5_HUMAN	S	200	ENSP00000355432:F200S	ENSP00000355432:F200S	F	+	2	0	OR2M5	246375671	0.000000	0.05858	0.009000	0.14445	0.884000	0.51177	0.218000	0.17622	0.360000	0.24265	0.403000	0.27427	TTC		0.428	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690		20	261	0	0	0	1	0	20	261				
BTLA	151888	broad.mit.edu	37	3	112185016	112185016	+	Missense_Mutation	SNP	C	C	A	rs138132778		TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr3:112185016C>A	ENST00000334529.5	-	5	1011	c.809G>T	c.(808-810)aGa>aTa	p.R270I	BTLA_ENST00000474965.1_5'UTR|BTLA_ENST00000383680.4_Missense_Mutation_p.R222I	NM_181780.3	NP_861445	Q7Z6A9	BTLA_HUMAN	B and T lymphocyte associated	270					immune response-regulating cell surface receptor signaling pathway (GO:0002768)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of B cell proliferation (GO:0030889)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|cervix(2)|large_intestine(1)|lung(5)|prostate(1)	11		Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361)				TCTTGCCAGTCTTGAGTTCGG	0.423																																						ENST00000334529.5																			0				breast(1)|central_nervous_system(1)|cervix(2)|large_intestine(1)|lung(5)|prostate(1)	11						c.(808-810)aGa>aTa		B and T lymphocyte associated							202.0	192.0	195.0					3																	112185016		2203	4300	6503	SO:0001583	missense	151888				T cell costimulation		receptor activity	g.chr3:112185016C>A	AY293286	CCDS33819.1, CCDS43130.1	3q13.2	2013-01-11			ENSG00000186265	ENSG00000186265		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21087	protein-coding gene	gene with protein product		607925				12796776	Standard	NM_001085357		Approved	BTLA1, CD272	uc003dza.4	Q7Z6A9	OTTHUMG00000159255	ENST00000334529.5:c.809G>T	3.37:g.112185016C>A	ENSP00000333919:p.Arg270Ile					BTLA_ENST00000474965.1_5'UTR|BTLA_ENST00000383680.4_Missense_Mutation_p.R222I	p.R270I	NM_181780.3	NP_861445.3	Q7Z6A9	BTLA_HUMAN			5	1011	-		Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361)	270					Q3B831|Q3HS85|Q6ZNH9	Missense_Mutation	SNP	ENST00000334529.5	37	c.809G>T	CCDS33819.1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.994830	0.35226	.	.	ENSG00000186265	ENST00000334529;ENST00000383680	T;T	0.55413	0.91;0.52	5.02	4.15	0.48705	.	0.113763	0.38663	N	0.001614	T	0.68063	0.2960	M	0.70275	2.135	0.32797	N	0.500325	D;D	0.76494	0.999;0.999	D;D	0.85130	0.964;0.997	T	0.76468	-0.2948	10	0.87932	D	0	-16.526	9.2636	0.37627	0.0:0.9027:0.0:0.0973	.	222;270	Q7Z6A9-2;Q7Z6A9	.;BTLA_HUMAN	I	270;222	ENSP00000333919:R270I;ENSP00000373178:R222I	ENSP00000333919:R270I	R	-	2	0	BTLA	113667706	0.429000	0.25530	0.349000	0.25694	0.007000	0.05969	0.188000	0.17018	1.345000	0.45676	-0.140000	0.14226	AGA		0.423	BTLA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354101.1	NM_181780		4	109	1	0	0.150653	1	0.150653	4	109				
MYL9	10398	broad.mit.edu	37	20	35173452	35173452	+	Silent	SNP	C	C	T	rs181831243		TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr20:35173452C>T	ENST00000279022.2	+	2	269	c.165C>T	c.(163-165)caC>caT	p.H55H	MYL9_ENST00000346786.2_Silent_p.H55H|RP5-977B1.7_ENST00000439595.1_RNA|RP5-977B1.7_ENST00000425233.1_RNA	NM_006097.4	NP_006088.2	P24844	MYL9_HUMAN	myosin, light chain 9, regulatory	55	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				axon guidance (GO:0007411)|muscle contraction (GO:0006936)|platelet aggregation (GO:0070527)|regulation of muscle contraction (GO:0006937)	cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|stress fiber (GO:0001725)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)	8	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				AGGACCTGCACGACATGCTGG	0.547													C|||	1	0.000199681	0.0	0.0	5008	,	,		16550	0.0		0.001	False		,,,				2504	0.0					ENST00000279022.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(2)	8						c.(163-165)caC>caT		myosin, light chain 9, regulatory							93.0	83.0	86.0					20																	35173452		2203	4300	6503	SO:0001819	synonymous_variant	10398				axon guidance|muscle contraction|regulation of muscle contraction	cytosol|muscle myosin complex	calcium ion binding|structural constituent of muscle	g.chr20:35173452C>T	J02854	CCDS13276.1, CCDS13277.1	20q11.23	2013-01-10	2006-09-29		ENSG00000101335	ENSG00000101335		"""Myosins / Light chain"", ""EF-hand domain containing"""	15754	protein-coding gene	gene with protein product	"""myosin regulatory light chain 2, smooth muscle isoform"", ""myosin regulatory light chain 1"""	609905	"""myosin, light polypeptide 9, regulatory"""			2526655	Standard	NM_006097		Approved	MYRL2, MLC2, LC20, MRLC1	uc002xfl.2	P24844	OTTHUMG00000032387	ENST00000279022.2:c.165C>T	20.37:g.35173452C>T						RP5-977B1.7_ENST00000425233.1_RNA|MYL9_ENST00000346786.2_Silent_p.H55H|RP5-977B1.7_ENST00000439595.1_RNA	p.H55H	NM_006097.4	NP_006088.2	P24844	MYL9_HUMAN			2	269	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	55			EF-hand 1.		E1P5T6|Q9BQL9|Q9BUF9|Q9H136	Silent	SNP	ENST00000279022.2	37	c.165C>T	CCDS13276.1																																																																																				0.547	MYL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079015.2	NM_006097		4	64	0	0	0	1	0	4	64				
ZNF252P	286101	broad.mit.edu	37	8	146220777	146220777	+	RNA	SNP	A	A	G			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr8:146220777A>G	ENST00000426361.2	-	0	245				RP5-1047A19.4_ENST00000530223.1_RNA	NR_023392.1				zinc finger protein 252, pseudogene											endometrium(1)	1						GCCTACATGAAGAAGAGAGAA	0.428																																						ENST00000426361.2																			0				endometrium(1)	1																																														0							g.chr8:146220777A>G	BC019922		8q24.3	2012-10-05	2012-04-19	2012-04-19	ENSG00000196922	ENSG00000196922			13046	pseudogene	pseudogene			"""zinc finger protein 252"""	ZNF252			Standard	NR_023392		Approved		uc011llo.2		OTTHUMG00000165201		8.37:g.146220777A>G								NR_023392.1						0	245	-									RNA	SNP	ENST00000426361.2	37																																																																																						0.428	ZNF252P-008	KNOWN	basic|exp_conf	processed_transcript	pseudogene	OTTHUMT00000451422.1	NR_023392		10	30	0	0	0	1	0	10	30				
CEP44	80817	broad.mit.edu	37	4	175224899	175224899	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr4:175224899C>T	ENST00000503780.1	+	5	697	c.283C>T	c.(283-285)Cag>Tag	p.Q95*	CEP44_ENST00000426172.1_Nonsense_Mutation_p.Q95*|CEP44_ENST00000296519.4_Nonsense_Mutation_p.Q95*|CEP44_ENST00000457424.2_Nonsense_Mutation_p.Q95*	NM_001040157.2	NP_001035247.1	Q9C0F1	CEP44_HUMAN	centrosomal protein 44kDa	95						centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|spindle pole (GO:0000922)				endometrium(2)|large_intestine(4)|lung(5)|stomach(1)	12						GACAAAAAAGCAGTTTATCCA	0.318																																						ENST00000503780.1																			0				endometrium(2)|large_intestine(4)|lung(5)|stomach(1)	12						c.(283-285)Cag>Tag		centrosomal protein 44kDa							66.0	69.0	68.0					4																	175224899		2201	4299	6500	SO:0001587	stop_gained	80817					centrosome|midbody|spindle pole		g.chr4:175224899C>T	AB051499	CCDS34106.1, CCDS47163.1	4q34	2014-02-20	2011-05-06	2011-05-06	ENSG00000164118	ENSG00000164118			29356	protein-coding gene	gene with protein product			"""KIAA1712"""	KIAA1712		21399614	Standard	NM_001040157		Approved		uc010iro.2	Q9C0F1	OTTHUMG00000160752	ENST00000503780.1:c.283C>T	4.37:g.175224899C>T	ENSP00000423153:p.Gln95*					CEP44_ENST00000426172.1_Nonsense_Mutation_p.Q95*|CEP44_ENST00000296519.4_Nonsense_Mutation_p.Q95*|CEP44_ENST00000457424.2_Nonsense_Mutation_p.Q95*	p.Q95*	NM_001040157.2	NP_001035247.1	Q9C0F1	CEP44_HUMAN			5	697	+			95					A8K8W9|A8MW11|B3KT53|D3DP42|Q8IXZ4	Nonsense_Mutation	SNP	ENST00000503780.1	37	c.283C>T	CCDS34106.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.648150	0.87958	.	.	ENSG00000164118	ENST00000503780;ENST00000505124;ENST00000457424;ENST00000514712;ENST00000515299;ENST00000503053;ENST00000426172;ENST00000296519	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.0044	0.97430	0.0:1.0:0.0:0.0	.	.	.	.	X	95	.	ENSP00000296519:Q95X	Q	+	1	0	CEP44	175461474	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.139000	0.71728	2.804000	0.96469	0.650000	0.86243	CAG		0.318	CEP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362109.2	NM_030633		12	16	0	0	0	1	0	12	16				
LIPN	643418	broad.mit.edu	37	10	90524167	90524167	+	Splice_Site	SNP	G	G	A			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr10:90524167G>A	ENST00000404459.1	+	3	227	c.227G>A	c.(226-228)gGt>gAt	p.G76D		NM_001102469.1	NP_001095939.1	Q5VXI9	LIPN_HUMAN	lipase, family member N	76					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	9		Colorectal(252;0.0161)		Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05)		CCCCCACCAGGTCCCCGGCCA	0.453																																						ENST00000404459.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	9						c.e3-1		lipase, family member N							79.0	77.0	78.0					10																	90524167		1885	4115	6000	SO:0001630	splice_region_variant	643418				lipid catabolic process	extracellular region	hydrolase activity	g.chr10:90524167G>A		CCDS44456.1	10q23.31	2013-09-20	2007-02-27	2007-02-27	ENSG00000204020	ENSG00000204020			23452	protein-coding gene	gene with protein product		613924	"""lipase-like, ab-hydrolase domain containing 4"""	LIPL4			Standard	NM_001102469		Approved	bA186O14.3	uc010qmw.2	Q5VXI9	OTTHUMG00000018694	ENST00000404459.1:c.227-1G>A	10.37:g.90524167G>A							p.G76_splice	NM_001102469.1	NP_001095939.1	Q5VXI9	LIPN_HUMAN		Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05)	3	227	+		Colorectal(252;0.0161)	76					A7KIH9	Splice_Site	SNP	ENST00000404459.1	37	c.226_splice	CCDS44456.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.239537	0.39598	.	.	ENSG00000204020	ENST00000404459	T	0.72725	-0.68	4.61	1.67	0.24075	Partial AB-hydrolase lipase domain (1);	0.114925	0.38778	N	0.001568	T	0.63534	0.2519	L	0.56199	1.76	0.40683	D	0.982329	P	0.44986	0.847	P	0.44597	0.454	T	0.58370	-0.7648	9	.	.	.	.	6.6442	0.22927	0.161:0.0:0.6948:0.1442	.	76	Q5VXI9	LIPN_HUMAN	D	76	ENSP00000383923:G76D	.	G	+	2	0	LIPN	90514147	0.997000	0.39634	0.917000	0.36280	0.449000	0.32228	2.498000	0.45363	0.250000	0.21479	-0.182000	0.12963	GGT		0.453	LIPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049254.2	XM_926751	Missense_Mutation	11	46	0	0	0	1	0	11	46				
OGT	8473	broad.mit.edu	37	X	70783246	70783246	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chrX:70783246C>T	ENST00000373719.3	+	18	2550	c.2333C>T	c.(2332-2334)cCt>cTt	p.P778L	OGT_ENST00000373701.3_Missense_Mutation_p.P768L	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	778					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					CCTGTTATTCCTATGAATACT	0.358																																						ENST00000373719.3																			0				breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2332-2334)cCt>cTt		O-linked N-acetylglucosamine (GlcNAc) transferase							86.0	79.0	82.0					X																	70783246		2203	4300	6503	SO:0001583	missense	8473				cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity	g.chrX:70783246C>T	U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"""Tetratricopeptide (TTC) repeat domain containing"""	8127	protein-coding gene	gene with protein product	"""UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"""	300255	"""O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"""			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.2333C>T	X.37:g.70783246C>T	ENSP00000362824:p.Pro778Leu					OGT_ENST00000373701.3_Missense_Mutation_p.P768L	p.P778L	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN			18	2550	+	Renal(35;0.156)		778					Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Missense_Mutation	SNP	ENST00000373719.3	37	c.2333C>T	CCDS14414.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.192380	0.58017	.	.	ENSG00000147162	ENST00000373719;ENST00000373701	T;T	0.72282	-0.64;-0.64	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.68044	0.2958	M	0.64404	1.975	0.80722	D	1	P;P;P	0.51933	0.949;0.687;0.704	B;B;B	0.39299	0.296;0.081;0.074	T	0.70781	-0.4779	10	0.35671	T	0.21	.	18.1023	0.89509	0.0:1.0:0.0:0.0	.	652;768;778	Q548W1;O15294-3;O15294	.;.;OGT1_HUMAN	L	778;768	ENSP00000362824:P778L;ENSP00000362805:P768L	ENSP00000362805:P768L	P	+	2	0	OGT	70699971	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.650000	0.83521	2.466000	0.83321	0.594000	0.82650	CCT		0.358	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000081829.3	NM_003605, NM_181672		6	63	0	0	0	1	0	6	63				
FOXS1	2307	broad.mit.edu	37	20	30433325	30433325	+	Silent	SNP	G	G	A	rs564111331		TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr20:30433325G>A	ENST00000375978.3	-	1	95	c.21C>T	c.(19-21)ccC>ccT	p.P7P		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	7					blood vessel development (GO:0001568)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|neuromuscular process controlling balance (GO:0050885)|positive regulation of multicellular organism growth (GO:0040018)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P7P(1)		kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						CGCCAGGCCCGGGCAGAGGCT	0.682													G|||	0	0.0	0.0	0.0	5008	,	,		15329	0.0		0.0	False		,,,				2504	0.0					ENST00000375978.3																			1	Substitution - coding silent(1)	p.P7P(1)	lung(1)	kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						c.(19-21)ccC>ccT		forkhead box S1							27.0	32.0	30.0					20																	30433325		2194	4277	6471	SO:0001819	synonymous_variant	2307				anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr20:30433325G>A	AF042831	CCDS13192.1	20q11.1-q11.2	2008-04-10	2008-04-10	2008-04-10	ENSG00000179772	ENSG00000179772		"""Forkhead boxes"""	3735	protein-coding gene	gene with protein product		602939	"""forkhead (Drosophila)-like 18"", ""forkhead-like 18 (Drosophila)"""	FKHL18		9325056, 17062144	Standard	NM_004118		Approved	FREAC10	uc002wwt.1	O43638	OTTHUMG00000032183	ENST00000375978.3:c.21C>T	20.37:g.30433325G>A							p.P7P	NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN			1	95	-			7					Q96D28	Silent	SNP	ENST00000375978.3	37	c.21C>T	CCDS13192.1																																																																																				0.682	FOXS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078560.2	NM_004118		21	51	0	0	0	1	0	21	51				
ARSD	414	broad.mit.edu	37	X	2825456	2825456	+	Silent	SNP	G	G	A			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chrX:2825456G>A	ENST00000381154.1	-	10	1713	c.1638C>T	c.(1636-1638)gcC>gcT	p.A546A	ARSD-AS1_ENST00000414053.1_RNA	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	546					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCGACACCGCGGCACCTACCC	0.647																																						ENST00000381154.1																			0				large_intestine(3)|lung(3)	6						c.(1636-1638)gcC>gcT		arylsulfatase D							33.0	29.0	30.0					X																	2825456		2203	4300	6503	SO:0001819	synonymous_variant	414					lysosome	arylsulfatase activity|metal ion binding	g.chrX:2825456G>A	X83572	CCDS35196.1	Xp22.3	2013-02-14			ENSG00000006756	ENSG00000006756		"""Arylsulfatase family"""	717	protein-coding gene	gene with protein product		300002				7720070	Standard	NM_001669		Approved		uc004cqy.3	P51689	OTTHUMG00000021077	ENST00000381154.1:c.1638C>T	X.37:g.2825456G>A							p.A546A	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN			10	1713	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	546					Q9UHJ8	Silent	SNP	ENST00000381154.1	37	c.1638C>T	CCDS35196.1																																																																																				0.647	ARSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055636.1			12	12	0	0	0	1	0	12	12				
MTOR	2475	broad.mit.edu	37	1	11181326	11181326	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr1:11181326A>G	ENST00000361445.4	-	49	6986	c.6910T>C	c.(6910-6912)Tgg>Cgg	p.W2304R	MTOR_ENST00000376838.1_Missense_Mutation_p.W509R	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2304	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	CTTTTCAGCCACAGCAGCTTG	0.587																																						ENST00000361445.4																			0				breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						c.(6910-6912)Tgg>Cgg		mechanistic target of rapamycin (serine/threonine kinase)							80.0	68.0	72.0					1																	11181326		2203	4300	6503	SO:0001583	missense	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11181326A>G	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.6910T>C	1.37:g.11181326A>G	ENSP00000354558:p.Trp2304Arg					MTOR_ENST00000376838.1_Missense_Mutation_p.W509R	p.W2304R	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN			49	6986	-			2304			PI3K/PI4K.		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.6910T>C	CCDS127.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.716059	0.89205	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	T;T	0.75050	-0.9;-0.9	5.85	5.85	0.93711	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.90728	0.7090	H	0.96430	3.82	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93538	0.6875	10	0.87932	D	0	-22.5164	16.2303	0.82332	1.0:0.0:0.0:0.0	.	2304	P42345	MTOR_HUMAN	R	2304;509	ENSP00000354558:W2304R;ENSP00000366034:W509R	ENSP00000354558:W2304R	W	-	1	0	MTOR	11103913	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.923000	0.92808	2.233000	0.73108	0.533000	0.62120	TGG		0.587	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		8	23	0	0	0	1	0	8	23				
KLHL40	131377	broad.mit.edu	37	3	42727549	42727549	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr3:42727549C>T	ENST00000287777.4	+	1	539	c.439C>T	c.(439-441)Cgt>Tgt	p.R147C		NM_152393.2	NP_689606.2	Q2TBA0	KLH40_HUMAN	kelch-like family member 40	147	BACK.				multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)											CGACTGCGCGCGTCTCGCCGT	0.652																																						ENST00000287777.4																			0											c.(439-441)Cgt>Tgt		kelch-like family member 40							74.0	76.0	75.0					3																	42727549		2203	4296	6499	SO:0001583	missense	131377							g.chr3:42727549C>T	AK056577	CCDS2703.1	3p21.33	2013-07-30	2013-02-22	2013-01-08	ENSG00000157119	ENSG00000157119		"""Kelch-like"", ""BTB/POZ domain containing"""	30372	protein-coding gene	gene with protein product	"""sarcosynapsin"", ""nemaline myopathy type 8"""	615340	"""kelch repeat and BTB (POZ) domain containing 5"", ""kelch-like 40 (Drosophila)"""	KBTBD5		23746549	Standard	NM_152393		Approved	SRYP, NEM8	uc003clv.1	Q2TBA0	OTTHUMG00000133045	ENST00000287777.4:c.439C>T	3.37:g.42727549C>T	ENSP00000287777:p.Arg147Cys						p.R147C	NM_152393.2	NP_689606.2					1	539	+								Q86SI1|Q96MR2	Missense_Mutation	SNP	ENST00000287777.4	37	c.439C>T	CCDS2703.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.502852	0.64298	.	.	ENSG00000157119	ENST00000287777	T	0.69926	-0.44	4.56	4.56	0.56223	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.81945	0.4930	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	D	0.84996	0.0897	10	0.87932	D	0	.	17.5196	0.87783	0.0:1.0:0.0:0.0	.	147	Q2TBA0	KBTB5_HUMAN	C	147	ENSP00000287777:R147C	ENSP00000287777:R147C	R	+	1	0	KBTBD5	42702553	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.769000	0.38522	2.391000	0.81399	0.655000	0.94253	CGT		0.652	KLHL40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256651.1	NM_152393		8	65	0	0	0	1	0	8	65				
SLC6A2	6530	broad.mit.edu	37	16	55730230	55730230	+	Missense_Mutation	SNP	C	C	T	rs201586185		TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr16:55730230C>T	ENST00000379906.2	+	8	1496	c.1241C>T	c.(1240-1242)gCg>gTg	p.A414V	SLC6A2_ENST00000414754.3_Missense_Mutation_p.A414V|SLC6A2_ENST00000567238.1_Missense_Mutation_p.A309V|SLC6A2_ENST00000561820.1_Missense_Mutation_p.A414V|SLC6A2_ENST00000219833.8_Missense_Mutation_p.A414V|SLC6A2_ENST00000568943.1_Missense_Mutation_p.A414V|SLC6A2_ENST00000566163.1_Missense_Mutation_p.A369V	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	414					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)	ATGCTCCTGGCGCTGGGCCTT	0.557													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17991	0.0		0.0	False		,,,				2504	0.0					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.(1240-1242)gCg>gTg		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)						226.0	187.0	200.0					16																	55730230		2198	4300	6498	SO:0001583	missense	6530				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity	g.chr16:55730230C>T		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.1241C>T	16.37:g.55730230C>T	ENSP00000369237:p.Ala414Val					SLC6A2_ENST00000567238.1_Missense_Mutation_p.A309V|SLC6A2_ENST00000566163.1_Missense_Mutation_p.A369V|SLC6A2_ENST00000414754.3_Missense_Mutation_p.A414V|SLC6A2_ENST00000568943.1_Missense_Mutation_p.A414V|SLC6A2_ENST00000561820.1_Missense_Mutation_p.A414V|SLC6A2_ENST00000219833.8_Missense_Mutation_p.A414V	p.A414V	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN		BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	8	1496	+			414					B2R707|B4DX48|Q96KH8	Missense_Mutation	SNP	ENST00000379906.2	37	c.1241C>T	CCDS10754.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	17.25	3.342466	0.61073	.	.	ENSG00000103546	ENST00000414754;ENST00000537705;ENST00000379906;ENST00000219833	T;T;T	0.73047	-0.71;-0.71;-0.71	4.38	4.38	0.52667	.	0.103535	0.64402	D	0.000004	T	0.41581	0.1165	N	0.01076	-1.035	0.38105	D	0.937383	B;B;B;B	0.31040	0.092;0.121;0.305;0.092	B;B;B;B	0.26416	0.069;0.041;0.069;0.069	T	0.52260	-0.8599	10	0.33940	T	0.23	.	16.1026	0.81194	0.0:1.0:0.0:0.0	.	414;128;309;414	Q96KH8;F5H0T4;B4DX48;P23975	.;.;.;SC6A2_HUMAN	V	414;128;414;414	ENSP00000394956:A414V;ENSP00000369237:A414V;ENSP00000219833:A414V	ENSP00000219833:A414V	A	+	2	0	SLC6A2	54287731	0.999000	0.42202	1.000000	0.80357	0.985000	0.73830	4.338000	0.59316	2.169000	0.68431	0.655000	0.94253	GCG		0.557	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256922.2			4	71	0	0	0	1	0	4	71				
OR5D13	390142	broad.mit.edu	37	11	55541619	55541619	+	Missense_Mutation	SNP	C	C	T	rs369729738		TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr11:55541619C>T	ENST00000361760.1	+	1	706	c.706C>T	c.(706-708)Cgc>Tgc	p.R236C		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	236			R -> L (in dbSNP:rs7124871).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TGCAAGTGGGCGCCAGAAAAC	0.408																																						ENST00000361760.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40						c.(706-708)Cgc>Tgc		olfactory receptor, family 5, subfamily D, member 13		C	CYS/ARG	0,4400		0,0,2200	134.0	119.0	124.0		706	-7.6	0.0	11		124	1,8591	1.2+/-3.3	0,1,4295	no	missense	OR5D13	NM_001001967.1	180	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077	benign	236/315	55541619	1,12991	2200	4296	6496	SO:0001583	missense	390142				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55541619C>T	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"""GPCR / Class A : Olfactory receptors"""	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.706C>T	11.37:g.55541619C>T	ENSP00000354800:p.Arg236Cys						p.R236C	NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN			1	706	+		all_epithelial(135;0.196)	236		R -> L (in dbSNP:rs7124871).			Q6IF68|Q6IFC9	Missense_Mutation	SNP	ENST00000361760.1	37	c.706C>T	CCDS31507.1	.	.	.	.	.	.	.	.	.	.	C	11.58	1.680976	0.29872	0.0	1.16E-4	ENSG00000198877	ENST00000361760	T	0.00337	8.05	3.82	-7.64	0.01286	GPCR, rhodopsin-like superfamily (1);	0.690085	0.10966	N	0.614455	T	0.00300	0.0009	M	0.91663	3.23	0.09310	N	1	B	0.24823	0.112	B	0.24269	0.052	T	0.42783	-0.9431	10	0.66056	D	0.02	-0.5898	2.0261	0.03519	0.5273:0.1688:0.1033:0.2006	.	236	Q8NGL4	OR5DD_HUMAN	C	236	ENSP00000354800:R236C	ENSP00000354800:R236C	R	+	1	0	OR5D13	55298195	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.486000	0.06513	-1.025000	0.03334	-0.527000	0.04329	CGC		0.408	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967		24	75	0	0	0	1	0	24	75				
HSPG2	3339	broad.mit.edu	37	1	22222729	22222729	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr1:22222729C>T	ENST00000374695.3	-	2	217	c.138G>A	c.(136-138)atG>atA	p.M46I		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	46					angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GTGTCCAGCGCATTTGGCTTG	0.557																																						ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(136-138)atG>atA		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						266.0	217.0	234.0					1																	22222729		2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22222729C>T	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.138G>A	1.37:g.22222729C>T	ENSP00000363827:p.Met46Ile						p.M46I	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	2	217	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	46					Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.138G>A	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	C	7.243	0.601723	0.13939	.	.	ENSG00000142798	ENST00000374695;ENST00000412328;ENST00000439717	T;T;T	0.74737	-0.87;0.95;1.0	4.85	-5.33	0.02713	.	1.634510	0.04047	N	0.304119	T	0.47838	0.1467	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.09377	0.004;0.002	T	0.24476	-1.0159	10	0.22109	T	0.4	.	3.762	0.08607	0.249:0.1455:0.4729:0.1325	.	25;46	Q5SZI5;P98160	.;PGBM_HUMAN	I	46;25;12	ENSP00000363827:M46I;ENSP00000405412:M25I;ENSP00000395884:M12I	ENSP00000363827:M46I	M	-	3	0	HSPG2	22095316	0.001000	0.12720	0.011000	0.14972	0.005000	0.04900	-0.212000	0.09319	-1.041000	0.03266	-0.281000	0.10026	ATG		0.557	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		31	112	0	0	0	1	0	31	112				
DMBT1	1755	broad.mit.edu	37	10	124348751	124348751	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr10:124348751G>T	ENST00000338354.3	+	17	2181	c.2075G>T	c.(2074-2076)gGc>gTc	p.G692V	DMBT1_ENST00000344338.3_Missense_Mutation_p.G682V|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.G682V|DMBT1_ENST00000368909.3_Missense_Mutation_p.G692V|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000330163.4_Intron			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	692	SRCR 5. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CACAACTGTGGCCATCATGAA	0.542																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000338354.3																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(2074-2076)gGc>gTc		deleted in malignant brain tumors 1							102.0	72.0	82.0					10																	124348751		1973	4101	6074	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124348751G>T		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.2075G>T	10.37:g.124348751G>T	ENSP00000342210:p.Gly692Val					DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000344338.3_Missense_Mutation_p.G682V|DMBT1_ENST00000368955.3_Missense_Mutation_p.G682V|DMBT1_ENST00000368909.3_Missense_Mutation_p.G692V|DMBT1_ENST00000330163.4_Intron	p.G692V			Q9UGM3	DMBT1_HUMAN			17	2181	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	692			SRCR 5.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.2075G>T		.	.	.	.	.	.	.	.	.	.	G	1.469	-0.560420	0.03939	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000344338;ENST00000368909;ENST00000368955	T;T;T;T	0.31510	1.49;1.49;1.49;1.49	4.19	-2.73	0.05950	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	1.828820	0.03236	N	0.179639	T	0.52484	0.1737	M	0.84433	2.695	0.09310	N	1	D;P;P	0.69078	0.997;0.454;0.509	P;B;B	0.61940	0.896;0.048;0.081	T	0.52518	-0.8565	10	0.23891	T	0.37	.	8.0977	0.30837	0.5658:0.0:0.3274:0.1068	.	692;682;692	Q9UGM3-6;Q9UGM3-3;Q9UGM3	.;.;DMBT1_HUMAN	V	692;692;692;692;692;692;682;692;682	ENSP00000342210:G692V;ENSP00000343175:G682V;ENSP00000357905:G692V;ENSP00000357951:G682V	ENSP00000342210:G692V	G	+	2	0	DMBT1	124338741	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.761000	0.01805	-0.540000	0.06265	0.485000	0.47835	GGC		0.542	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		4	58	1	0	0.00024832	1	0.000265645	4	58				
OR2W5	441932	broad.mit.edu	37	1	247655187	247655187	+	RNA	SNP	G	G	A	rs532925117		TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr1:247655187G>A	ENST00000522351.1	+	0	818							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R253Q(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TCTCTTCTACGGAACCATCAT	0.537													G|||	1	0.000199681	0.0	0.0	5008	,	,		17854	0.0		0.0	False		,,,				2504	0.001					ENST00000522351.1																			1	Substitution - Missense(1)	p.R253Q(1)	endometrium(1)	breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39															135.0	118.0	124.0					1																	247655187		2203	4300	6503			0				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247655187G>A			1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"""GPCR / Class A : Olfactory receptors"""	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		1.37:g.247655187G>A										A6NFC9	OR2W5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		0	818	+	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)						B9EH85	RNA	SNP	ENST00000522351.1	37																																																																																						0.537	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	NM_001004698		11	72	0	0	0	1	0	11	72				
UCKL1	54963	broad.mit.edu	37	20	62571549	62571549	+	Silent	SNP	C	C	T			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr20:62571549C>T	ENST00000354216.6	-	14	1563	c.1521G>A	c.(1519-1521)gcG>gcA	p.A507A	MIR647_ENST00000384823.1_RNA|UCKL1_ENST00000369908.5_Silent_p.A492A|UCKL1_ENST00000358711.3_3'UTR|UCKL1_ENST00000369892.3_Silent_p.A507A|MIR1914_ENST00000607800.1_RNA	NM_017859.3	NP_060329.2	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	507					CTP salvage (GO:0044211)|UMP salvage (GO:0044206)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|uridine kinase activity (GO:0004849)			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GCTTGTCCACCGCCGTGGTGA	0.602																																						ENST00000369908.5																			0				endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(1474-1476)gcG>gcA		uridine-cytidine kinase 1-like 1							92.0	74.0	80.0					20																	62571549		2200	4299	6499	SO:0001819	synonymous_variant	54963				interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity	g.chr20:62571549C>T	AK000524	CCDS13547.1, CCDS54479.1	20q13.33	2012-09-20	2004-07-13	2004-07-13	ENSG00000198276	ENSG00000198276			15938	protein-coding gene	gene with protein product		610866	"""uridine kinase-like 1"""	URKL1			Standard	NM_017859		Approved	FLJ20517	uc010gkn.3	Q9NWZ5	OTTHUMG00000033003	ENST00000354216.6:c.1521G>A	20.37:g.62571549C>T						UCKL1_ENST00000354216.6_Silent_p.A507A|UCKL1_ENST00000369892.3_Silent_p.A507A|UCKL1_ENST00000358711.3_3'UTR	p.A492A	NM_001193379.1	NP_001180308.1	Q9NWZ5	UCKL1_HUMAN			14	1775	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		507					B7Z8N2|Q5JWV0|Q70AQ5|Q8N524|Q9H3Z2	Silent	SNP	ENST00000354216.6	37	c.1476G>A	CCDS13547.1																																																																																				0.602	UCKL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080236.1	NM_017859		3	32	0	0	0	1	0	3	32				
MYH1	4619	broad.mit.edu	37	17	10411951	10411951	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr17:10411951C>A	ENST00000226207.5	-	16	1720	c.1626G>T	c.(1624-1626)atG>atT	p.M542I	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	542	Myosin motor.				muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CCTTGGGGAACATGCACTCCT	0.433																																						ENST00000226207.5																			0				NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(1624-1626)atG>atT		myosin, heavy chain 1, skeletal muscle, adult							111.0	116.0	114.0					17																	10411951		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10411951C>A		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.1626G>T	17.37:g.10411951C>A	ENSP00000226207:p.Met542Ile					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.M542I	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN			16	1720	-			542			Myosin head-like.		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.1626G>T	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.027404	0.93518	.	.	ENSG00000109061	ENST00000226207	T	0.71341	-0.56	4.8	4.8	0.61643	Myosin head, motor domain (2);	0.000000	0.52532	U	0.000072	T	0.71239	0.3316	L	0.49571	1.57	0.58432	D	0.999999	B	0.17038	0.02	B	0.33295	0.161	T	0.69026	-0.5254	10	0.51188	T	0.08	.	18.405	0.90532	0.0:1.0:0.0:0.0	.	542	P12882	MYH1_HUMAN	I	542	ENSP00000226207:M542I	ENSP00000226207:M542I	M	-	3	0	MYH1	10352676	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.414000	0.80117	2.665000	0.90641	0.650000	0.86243	ATG		0.433	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		19	75	1	0	1.42536e-11	1	1.63916e-11	19	75				
GPRASP1	9737	broad.mit.edu	37	X	101911243	101911243	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chrX:101911243A>G	ENST00000361600.5	+	5	3203	c.2402A>G	c.(2401-2403)gAc>gGc	p.D801G	GPRASP1_ENST00000444152.1_Missense_Mutation_p.D801G|GPRASP1_ENST00000537097.1_Missense_Mutation_p.D801G|GPRASP1_ENST00000415986.1_Missense_Mutation_p.D801G|RP4-769N13.7_ENST00000602441.1_RNA	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	801	Glu-rich.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AGAGAAGAAGACAGGCTAGCA	0.527																																						ENST00000537097.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(2401-2403)gAc>gGc		G protein-coupled receptor associated sorting protein 1							117.0	118.0	117.0					X																	101911243		2203	4300	6503	SO:0001583	missense	9737					cytoplasm	protein binding	g.chrX:101911243A>G	AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.2402A>G	X.37:g.101911243A>G	ENSP00000355146:p.Asp801Gly					GPRASP1_ENST00000444152.1_Missense_Mutation_p.D801G|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_Missense_Mutation_p.D801G|GPRASP1_ENST00000361600.5_Missense_Mutation_p.D801G	p.D801G	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN			6	3215	+			801			Glu-rich.		O43168|Q96LA1	Missense_Mutation	SNP	ENST00000361600.5	37	c.2402A>G	CCDS35352.1	.	.	.	.	.	.	.	.	.	.	A	4.039	0.004775	0.07866	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.10005	2.92;2.92;2.92;2.92	2.43	-0.24	0.13047	.	.	.	.	.	T	0.07863	0.0197	L	0.48642	1.525	0.09310	N	1	B	0.29037	0.231	B	0.22386	0.039	T	0.34976	-0.9807	9	0.30854	T	0.27	0.112	3.7331	0.08500	0.374:0.4693:0.1567:0.0	.	801	Q5JY77	GASP1_HUMAN	G	801	ENSP00000393691:D801G;ENSP00000409420:D801G;ENSP00000355146:D801G;ENSP00000445683:D801G	ENSP00000355146:D801G	D	+	2	0	GPRASP1	101797899	0.000000	0.05858	0.000000	0.03702	0.145000	0.21501	-1.099000	0.03343	-0.124000	0.11724	0.242000	0.17961	GAC		0.527	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		6	125	0	0	0	1	0	6	125				
TP53	7157	broad.mit.edu	37	17	7578454	7578454	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr17:7578454G>A	ENST00000269305.4	-	5	665	c.476C>T	c.(475-477)gCc>gTc	p.A159V	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.A159V|TP53_ENST00000420246.2_Missense_Mutation_p.A159V|TP53_ENST00000413465.2_Missense_Mutation_p.A159V|TP53_ENST00000445888.2_Missense_Mutation_p.A159V|TP53_ENST00000359597.4_Missense_Mutation_p.A159V	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	159	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		A -> D (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|A -> G (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.A159V(33)|p.0?(8)|p.A159D(7)|p.R158fs(6)|p.R65fs(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.R26fs(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.R158fs*11(1)|p.A66V(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.A27V(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.A159_Q167delAMAIYKQSQ(1)|p.V157fs*21(1)|p.R158fs*8(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)	GATGGCCATGGCGCGGACGCG	0.627		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		81	Substitution - Missense(42)|Deletion - In frame(12)|Complex(10)|Whole gene deletion(8)|Deletion - Frameshift(7)|Complex - frameshift(2)	p.A159V(33)|p.0?(8)|p.A159D(7)|p.R158fs(6)|p.R65fs(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.R26fs(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.R158fs*11(1)|p.A66V(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.A27V(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.A159_Q167delAMAIYKQSQ(1)|p.V157fs*21(1)|p.R158fs*8(1)	central_nervous_system(15)|large_intestine(13)|lung(13)|stomach(6)|breast(6)|ovary(6)|oesophagus(4)|bone(4)|liver(4)|haematopoietic_and_lymphoid_tissue(3)|pancreas(2)|upper_aerodigestive_tract(1)|endometrium(1)|urinary_tract(1)|skin(1)|prostate(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(475-477)gCc>gTc	Other conserved DNA damage response genes	tumor protein p53							50.0	51.0	51.0					17																	7578454		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.chr17:7578454G>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.476C>T	17.37:g.7578454G>A	ENSP00000269305:p.Ala159Val	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_ENST00000359597.4_Missense_Mutation_p.A159V|TP53_ENST00000269305.4_Missense_Mutation_p.A159V|TP53_ENST00000413465.2_Missense_Mutation_p.A159V|TP53_ENST00000445888.2_Missense_Mutation_p.A159V|TP53_ENST00000455263.2_Missense_Mutation_p.A159V	p.A159V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	608	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	159		A -> D (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|A -> G (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.476C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.211949	0.58452	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99859	-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23	5.59	2.42	0.29668	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.053992	0.64402	D	0.000001	D	0.99594	0.9853	L	0.49513	1.565	0.50171	D	0.999855	D;P;B;D;P;P;D	0.67145	0.984;0.881;0.358;0.989;0.832;0.769;0.996	P;P;B;P;P;P;P	0.59703	0.774;0.616;0.255;0.741;0.814;0.632;0.862	D	0.98152	1.0442	10	0.87932	D	0	-9.0177	10.7596	0.46258	0.0:0.2672:0.5942:0.1386	.	120;159;159;66;159;159;159	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	V	159;159;159;159;159;159;148;66;27;66;27;159	ENSP00000410739:A159V;ENSP00000352610:A159V;ENSP00000269305:A159V;ENSP00000398846:A159V;ENSP00000391127:A159V;ENSP00000391478:A159V;ENSP00000425104:A27V;ENSP00000423862:A66V;ENSP00000424104:A159V	ENSP00000269305:A159V	A	-	2	0	TP53	7519179	1.000000	0.71417	0.377000	0.26055	0.171000	0.22731	7.969000	0.87988	0.364000	0.24374	-0.176000	0.13171	GCC		0.627	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		47	6	0	0	0	1	0	47	6				
LINC01359	101927084	broad.mit.edu	37	1	65451792	65451793	+	lincRNA	INS	-	-	T	rs113756498|rs35258864		TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr1:65451792_65451793insT	ENST00000447748.1	-	0	1775																											CAATCTAATTGttttttttttt	0.49																																						ENST00000447748.1																			0																																																			0							g.chr1:65451792_65451793insT																													1.37:g.65451803_65451803dupT														0	1775	-									RNA	INS	ENST00000447748.1	37																																																																																						0.490	RP11-182I10.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000025780.1			2	4						2	4	---	---	---	---
OCLM	10896	broad.mit.edu	37	1	186370195	186370196	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr1:186370195_186370196delAT	ENST00000574641.1	+	1	492_493	c.18_19delAT	c.(16-21)ccattafs	p.L9fs	C1orf27_ENST00000287859.6_Intron|C1orf27_ENST00000367470.3_Intron|C1orf27_ENST00000419367.3_Intron|C1orf27_ENST00000432021.3_Intron	NM_022375.3	NP_071770.1	Q9Y5M6	TISR_HUMAN	oculomedin	9					visual perception (GO:0007601)												TGTATCCACCATTATTGTTAAA	0.356																																						ENST00000574641.1																			0											c.(16-21)cctafs		oculomedin																																				SO:0001589	frameshift_variant	10896				visual perception			g.chr1:186370195_186370196delAT	AF142063	CCDS58051.1	1q31.1	2013-09-24			ENSG00000262180	ENSG00000262180			8103	protein-coding gene	gene with protein product		604301				10362512	Standard	NM_022375		Approved		uc001gry.3	Q9Y5M6	OTTHUMG00000177601	ENST00000574641.1:c.18_19delAT	1.37:g.186370195_186370196delAT	ENSP00000460371:p.Leu9fs					C1orf27_ENST00000419367.3_Intron|C1orf27_ENST00000287859.6_Intron|C1orf27_ENST00000432021.3_Intron|C1orf27_ENST00000367470.3_Intron	p.PL6fs	NM_022375.3	NP_071770.1	Q9Y5M6	TISR_HUMAN			1	492_493	+			6					Q4G0F9	Frame_Shift_Del	DEL	ENST00000574641.1	37	c.18_19delAT	CCDS58051.1																																																																																				0.356	OCLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438012.1	NM_022375		10	175						10	175	---	---	---	---
IL36B	27177	broad.mit.edu	37	2	113786563	113786564	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr2:113786563_113786564delAG	ENST00000259213.4	-	4	320_321	c.213_214delCT	c.(211-216)ctctgtfs	p.C72fs	IL36B_ENST00000327407.2_Frame_Shift_Del_p.C72fs	NM_014438.3	NP_055253.2	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	72					immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-1 receptor binding (GO:0005149)			kidney(1)|ovary(1)|pancreas(1)	3						CAGAAGAGACAGAGATCTTTTC	0.411																																						ENST00000259213.4																			0				kidney(1)|ovary(1)|pancreas(1)	3						c.(211-216)ctgtfs		interleukin 36, beta																																				SO:0001589	frameshift_variant	27177				immune response	extracellular space	cytokine activity|interleukin-1 receptor binding	g.chr2:113786563_113786564delAG	AF201833	CCDS2109.1, CCDS2110.1	2q14	2011-07-14	2011-06-06	2011-06-06	ENSG00000136696	ENSG00000136696		"""Interleukins and interleukin receptors"""	15564	protein-coding gene	gene with protein product		605508	"""interleukin 1 family, member 8 (eta)"""	IL1F8		10625660, 10512743, 16646978	Standard	NM_173178		Approved	FIL1, IL-1H2, IL-1F8, FILI-(ETA), IL1-ETA, IL1H2, MGC126880, MGC126882	uc002tiq.1	Q9NZH7	OTTHUMG00000131338	ENST00000259213.4:c.213_214delCT	2.37:g.113786565_113786566delAG	ENSP00000259213:p.Cys72fs					IL36B_ENST00000327407.2_Frame_Shift_Del_p.LC71fs	p.LC71fs	NM_014438.3	NP_055253.2	Q9NZH7	IL36B_HUMAN			4	320_321	-			71					Q3MIH0|Q53SR6|Q7RTZ7|Q9UHA5	Frame_Shift_Del	DEL	ENST00000259213.4	37	c.213_214delCT	CCDS2109.1																																																																																				0.411	IL36B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254110.1	NM_014438		7	86						7	86	---	---	---	---
COBLL1	22837	broad.mit.edu	37	2	165551407	165551408	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr2:165551407_165551408delTC	ENST00000392717.2	-	13	2726_2727	c.2722_2723delGA	c.(2722-2724)gacfs	p.D908fs	COBLL1_ENST00000375458.2_Frame_Shift_Del_p.D832fs|COBLL1_ENST00000194871.6_Frame_Shift_Del_p.D937fs|COBLL1_ENST00000342193.4_Frame_Shift_Del_p.D870fs|COBLL1_ENST00000409184.3_Frame_Shift_Del_p.D870fs			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	908						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TGTGCCAGTGTCTCTTGTCATT	0.45																																						ENST00000375458.2																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						c.(2494-2496)cfs		cordon-bleu WH2 repeat protein-like 1																																				SO:0001589	frameshift_variant	22837							g.chr2:165551407_165551408delTC	AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.2722_2723delGA	2.37:g.165551409_165551410delTC	ENSP00000376478:p.Asp908fs					COBLL1_ENST00000409184.3_Frame_Shift_Del_p.D870fs|COBLL1_ENST00000392717.2_Frame_Shift_Del_p.D908fs|COBLL1_ENST00000194871.6_Frame_Shift_Del_p.D937fs|COBLL1_ENST00000342193.4_Frame_Shift_Del_p.D870fs	p.D832fs	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN			11	2715_2716	-			908					A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Frame_Shift_Del	DEL	ENST00000392717.2	37	c.2494_2495delGA																																																																																					0.450	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900		20	61						20	61	---	---	---	---
LOC101927237	101927237	broad.mit.edu	37	4	68311853	68311855	+	lincRNA	DEL	GAG	GAG	-			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr4:68311853_68311855delGAG	ENST00000502400.1	-	0	34																											TCTCTATGGCGAGGAGGAGGAGG	0.547																																						ENST00000502400.1																			0																																																			0							g.chr4:68311853_68311855delGAG																													4.37:g.68311862_68311864delGAG														0	34	-									RNA	DEL	ENST00000502400.1	37																																																																																						0.547	RP11-584P21.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000361926.2			3	3						3	3	---	---	---	---
PNLIPRP2	5408	broad.mit.edu	37	10	118396277	118396278	+	RNA	INS	-	-	T	rs376717445|rs199682553|rs112820043|rs11197776	byFrequency	TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr10:118396277_118396278insT	ENST00000298771.7	+	0	961				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000537242.1_RNA	NR_103727.1		P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process (GO:0019376)|lipid digestion (GO:0044241)|phospholipid catabolic process (GO:0009395)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	acylglycerol lipase activity (GO:0047372)|calcium ion binding (GO:0005509)|galactolipase activity (GO:0047714)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		GACAAATTATGGTTTTTTTTTT	0.421													-|-|T|insertion	732	0.146166	0.0136	0.1686	5008	,	,		20647	0.3413		0.1252	False		,,,				2504	0.1299					ENST00000537242.1																			0				endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16								pancreatic lipase-related protein 2																																						5408				galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity	g.chr10:118396277_118396278insT	M93284		10q26.12	2014-03-14				ENSG00000266200	3.1.1.3		9157	protein-coding gene	gene with protein product		604423				1379598	Standard	NM_005396		Approved	PLRP2	uc001lcq.3	P54317			10.37:g.118396277_118396278insT						PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_RNA		NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN		all cancers(201;0.015)	0	962	+								A8K627|Q6IB55	RNA	INS	ENST00000298771.7	37																																																																																						0.421	PNLIPRP2-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000050546.6	NM_005396		4	5						4	5	---	---	---	---
MMP12	4321	broad.mit.edu	37	11	102737945	102737945	+	RNA	DEL	A	A	-	rs28381681|rs576323391|rs61100998	byFrequency	TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr11:102737945delA	ENST00000532855.1	-	0	1007							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	GTTTTCTGACAAAAAAAATTT	0.338													?|AAAAAAAA|AAAAAAA|unsure	1399	0.279353	0.3699	0.3112	5008	,	,		20993	0.371		0.1819	False		,,,				2504	0.1401					ENST00000532855.1																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26								matrix metallopeptidase 12 (macrophage elastase)	Acetohydroxamic Acid(DB00551)																																					4321				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102737945delA	L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"""matrix metalloproteinase 12 (macrophage elastase)"""				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102737945delA										P39900	MMP12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.014)	0	1007	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)						B2R9X8|B7ZLF6|Q2M1L9	RNA	DEL	ENST00000532855.1	37																																																																																						0.338	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	NM_002426		6	3						6	3	---	---	---	---
RP11-114H23.1	0	broad.mit.edu	37	12	76082491	76082491	+	lincRNA	DEL	T	T	-			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr12:76082491delT	ENST00000552856.1	-	0	401				SNORA70_ENST00000516084.2_RNA																							attctTTTTCTTTTTTTTTTT	0.363																																						ENST00000552856.1																			0																																																			0							g.chr12:76082491delT																													12.37:g.76082491delT														0	401	-									RNA	DEL	ENST00000552856.1	37																																																																																						0.363	RP11-114H23.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000405775.2			3	3						3	3	---	---	---	---
NCOR1P1	149934	broad.mit.edu	37	20	26084428	26084428	+	RNA	DEL	C	C	-	rs371146435		TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr20:26084428delC	ENST00000478176.1	-	0	150					NR_003678.1		Q9H4R4	CT191_HUMAN	nuclear receptor corepressor 1 pseudogene 1																		TCTAATGAAACCTTTAGTAGT	0.313																																						ENST00000478176.1																			0																																																			0							g.chr20:26084428delC	AL391119		20p11.1	2011-09-16	2011-09-16	2011-09-16	ENSG00000240108	ENSG00000240108			16724	pseudogene	pseudogene			"""chromosome 20 open reading frame 191"""	C20orf191			Standard	NR_003678		Approved	bB329D4.2	uc002wvj.5	Q9H4R4	OTTHUMG00000032145		20.37:g.26084428delC								NR_003678.1						0	150	-								A2RUA0	RNA	DEL	ENST00000478176.1	37																																																																																						0.313	NCOR1P1-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000078478.2			3	6						3	6	---	---	---	---
EMID1	129080	broad.mit.edu	37	22	29630137	29630137	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr22:29630137delC	ENST00000404820.3	+	11	1105	c.978delC	c.(976-978)ggcfs	p.G326fs	EMID1_ENST00000404755.3_Intron|EMID1_ENST00000334018.6_Frame_Shift_Del_p.G326fs			Q96A84	EMID1_HUMAN	EMI domain containing 1	324	Collagen-like.					collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						GACCCCCAGGCCCCACTGGAC	0.642																																						ENST00000334018.6																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						c.(976-978)ggfs		EMI domain containing 1							21.0	20.0	20.0					22																	29630137		2195	4296	6491	SO:0001589	frameshift_variant	129080					collagen		g.chr22:29630137delC	AJ416090	CCDS33630.1	22q12.2	2009-08-04			ENSG00000186998	ENSG00000186998		"""EMI domain containing"""	18036	protein-coding gene	gene with protein product	"""emilin and multimerin-domain containing protein 1"", ""putative emu1"""	608926				12221002	Standard	NM_001267895		Approved	EMU1, hEmu1, EMI5	uc003aem.4	Q96A84	OTTHUMG00000151013	ENST00000404820.3:c.978delC	22.37:g.29630137delC	ENSP00000384452:p.Gly326fs					EMID1_ENST00000404755.3_Intron|EMID1_ENST00000404820.3_Frame_Shift_Del_p.G326fs	p.G326fs	NM_001267895.1|NM_133455.3	NP_001254824.1|NP_597712.2	Q96A84	EMID1_HUMAN			11	1166	+			324			Collagen-like.		B0QYK6|Q6ICG1|Q86SS7	Frame_Shift_Del	DEL	ENST00000404820.3	37	c.978delC																																																																																					0.642	EMID1-002	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321075.1	NM_133455		2	4						2	4	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76814303	76814306	+	Frame_Shift_Del	DEL	ATAA	ATAA	-			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chrX:76814303_76814306delATAA	ENST00000373344.5	-	29	6552_6555	c.6338_6341delTTAT	c.(6337-6342)tttatcfs	p.FI2113fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.FI2075fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2113	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with MECP2.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.F2113fs*9(1)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						AGTAGAAATGATAAATAATCGTCC	0.289			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		2	Unknown(1)|Deletion - Frameshift(1)	p.F2113fs*9(1)|p.?(1)	bone(1)|pancreas(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(6337-6342)tcfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76814303_76814306delATAA	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.6338_6341delTTAT	X.37:g.76814307_76814310delATAA	ENSP00000362441:p.Phe2113fs					ATRX_ENST00000395603.3_Frame_Shift_Del_p.FI2075fs|ATRX_ENST00000480283.1_5'UTR	p.FI2113fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			29	6552_6555	-			2113			Helicase C-terminal.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.6338_6341delTTAT	CCDS14434.1																																																																																				0.289	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		14	25						14	25	---	---	---	---
