#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
HLA-DQB2	3120	broad.mit.edu	37	6	32725567	32725567	+	Missense_Mutation	SNP	C	C	T	rs77504727		TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr6:32725567C>T	ENST00000437316.2	-	4	803	c.740G>A	c.(739-741)cGt>cAt	p.R247H	HLA-DQB2_ENST00000435145.2_Missense_Mutation_p.R247H|HLA-DQB2_ENST00000411527.1_Intron			P05538	DQB2_HUMAN	major histocompatibility complex, class II, DQ beta 2	251					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|B cell affinity maturation (GO:0002344)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of alpha-beta T cell activation (GO:0046635)|positive regulation of antigen processing and presentation (GO:0002579)|positive regulation of T-helper 1 type immune response (GO:0002827)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome (GO:0005769)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)|toxic substance binding (GO:0015643)			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						ACCCCTGTGACGGATGATAAG	0.552																																						ENST00000435145.2																			0				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						c.(739-741)cGt>cAt		major histocompatibility complex, class II, DQ beta 2																																				SO:0001583	missense	3120				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex		g.chr6:32725567C>T	M83890	CCDS56419.1	6p21.3	2013-01-11			ENSG00000232629	ENSG00000232629		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4945	protein-coding gene	gene with protein product		615161		HLA-DXB		2564844	Standard	NM_001198858		Approved		uc003oby.4	P05538	OTTHUMG00000031125	ENST00000437316.2:c.740G>A	6.37:g.32725567C>T	ENSP00000396330:p.Arg247His					HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.R247H|HLA-DQB2_ENST00000411527.1_Intron	p.R247H			Q5SR06	Q5SR06_HUMAN			4	801	-			216					A6NIA5|Q29826|Q29870|Q29871|Q29872|Q29873|Q5SR06	Missense_Mutation	SNP	ENST00000437316.2	37	c.740G>A		.	.	.	.	.	.	.	.	.	.	.	0.003	-2.431383	0.00184	.	.	ENSG00000232629	ENST00000437316;ENST00000435145	T;T	0.00625	6.17;6.14	3.25	-3.63	0.04529	.	0.752796	0.12134	N	0.496536	T	0.00210	0.0006	.	.	.	0.09310	N	1	B	0.15141	0.012	B	0.09377	0.004	T	0.25502	-1.0130	9	0.41790	T	0.15	.	9.6955	0.40154	0.0:0.4123:0.0:0.5877	rs34134876	247	A2ADX3	.	H	247	ENSP00000396330:R247H;ENSP00000410512:R247H	ENSP00000410512:R247H	R	-	2	0	HLA-DQB2	32833545	0.000000	0.05858	0.008000	0.14137	0.015000	0.08874	-1.557000	0.02166	-0.833000	0.04245	-1.855000	0.00564	CGT		0.552	HLA-DQB2-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000076216.2			4	23	0	0	0	0.000602	0	4	23				
NPY4R	5540	broad.mit.edu	37	10	47087234	47087234	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr10:47087234C>T	ENST00000395716.1	+	2	536	c.451C>T	c.(451-453)Ccc>Tcc	p.P151S	NPY4R_ENST00000374312.1_Missense_Mutation_p.P151S			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	151					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)										AGGCTGGAAGCCCAGCATCTC	0.587																																						ENST00000374312.1																			0											c.(451-453)Ccc>Tcc		neuropeptide Y receptor Y4							248.0	212.0	224.0					10																	47087234		2203	4300	6503	SO:0001583	missense	0							g.chr10:47087234C>T		CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"""GPCR / Class A : Neuropeptide receptors : Y"""	9329	protein-coding gene	gene with protein product		601790	"""pancreatic polypeptide receptor 1"""	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.451C>T	10.37:g.47087234C>T	ENSP00000379066:p.Pro151Ser					NPY4R_ENST00000395716.1_Missense_Mutation_p.P151S	p.P151S	NM_005972.4	NP_005963.3					3	870	+								Q13456|Q5ISU3|Q5T2X9|Q6FH06	Missense_Mutation	SNP	ENST00000395716.1	37	c.451C>T	CCDS31193.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.511784	0.85389	.	.	ENSG00000204174	ENST00000374312;ENST00000395716	T;T	0.35973	1.28;1.28	4.93	4.93	0.64822	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.55577	0.1929	L	0.55017	1.72	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.57539	-0.7794	10	0.66056	D	0.02	.	16.0236	0.80522	0.0:1.0:0.0:0.0	.	151	P50391	NPY4R_HUMAN	S	151	ENSP00000363431:P151S;ENSP00000379066:P151S	ENSP00000363431:P151S	P	+	1	0	PPYR1	46507240	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.493000	0.81493	2.464000	0.83262	0.609000	0.83330	CCC		0.587	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047837.1			48	218	0	0	0	0.003610	0	48	218				
MAGIX	79917	broad.mit.edu	37	X	49022446	49022446	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chrX:49022446G>A	ENST00000412696.2	+	6	713	c.713G>A	c.(712-714)gGa>gAa	p.G238E	MAGIX_ENST00000376338.3_Missense_Mutation_p.G179E|MAGIX_ENST00000425661.2_Missense_Mutation_p.G162E|MAGIX_ENST00000376339.1_Missense_Mutation_p.G174E|MAGIX_ENST00000498742.1_3'UTR	NM_024859.2	NP_079135.3	Q9H6Y5	MAGIX_HUMAN	MAGI family member, X-linked	238																	CCAGATCCTGGAGGGCCGGAG	0.617																																						ENST00000376338.3																			0											c.(535-537)gGa>gAa		MAGI family member, X-linked							47.0	53.0	51.0					X																	49022446		2136	4221	6357	SO:0001583	missense	79917							g.chrX:49022446G>A	AK025340	CCDS48106.1, CCDS48107.1, CCDS75976.1	Xp11.23	2014-05-06			ENSG00000017621	ENSG00000269313			30006	protein-coding gene	gene with protein product							Standard	XM_005278065		Approved	PDZX, JM10, FLJ21687	uc010nin.1	Q9H6Y5	OTTHUMG00000188218	ENST00000412696.2:c.713G>A	X.37:g.49022446G>A	ENSP00000387928:p.Gly238Glu					MAGIX_ENST00000498742.1_3'UTR|MAGIX_ENST00000425661.2_Missense_Mutation_p.G162E|MAGIX_ENST00000376339.1_Missense_Mutation_p.G174E|MAGIX_ENST00000412696.2_Missense_Mutation_p.G238E	p.G179E			Q9H6Y5	MAGIX_HUMAN			4	615	+			238			PDZ.		A6XND4|A8MSX9|B7WP26|Q14C81	Missense_Mutation	SNP	ENST00000412696.2	37	c.536G>A	CCDS48106.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	16.04|16.04|16.04	3.010595|3.010595|3.010595	0.54361|0.54361|0.54361	.|.|.	.|.|.	ENSG00000017621|ENSG00000017621|ENSG00000017621	ENST00000415364|ENST00000376339;ENST00000425661;ENST00000412696;ENST00000376338;ENST00000425285;ENST00000454342|ENST00000458388	.|T;T;T;T;T;T|.	.|0.32515|.	.|1.97;2.25;1.89;1.79;1.66;1.45|.	3.86|3.86|3.86	2.98|2.98|2.98	0.34508|0.34508|0.34508	.|.|.	.|0.217441|.	.|0.23353|.	.|N|.	.|0.049104|.	T|T|.	0.25457|0.25457|.	0.0619|0.0619|.	L|L|L	0.27053|0.27053|0.27053	0.805|0.805|0.805	0.09310|0.09310|0.09310	N|N|N	0.999993|0.999993|0.999993	.|D;D;D;D;D|.	.|0.76494|.	.|0.999;0.997;0.999;0.999;0.999|.	.|D;P;D;D;D|.	.|0.69479|.	.|0.964;0.895;0.951;0.951;0.922|.	T|T|.	0.13442|0.13442|.	-1.0509|-1.0509|.	5|10|.	.|0.59425|.	.|D|.	.|0.04|.	-3.1638|-3.1638|-3.1638	5.572|5.572|5.572	0.17202|0.17202|0.17202	0.1525:0.0:0.8475:0.0|0.1525:0.0:0.8475:0.0|0.1525:0.0:0.8475:0.0	.|.|.	.|162;238;174;179;105|.	.|F8WCY7;Q9H6Y5;Q9H6Y5-3;Q9H6Y5-2;C9J123|.	.|.;MAGIX_HUMAN;.;.;.|.	K|E|X	202|174;162;238;179;179;105|162	.|ENSP00000365517:G174E;ENSP00000403515:G162E;ENSP00000387928:G238E;ENSP00000365516:G179E;ENSP00000411713:G179E;ENSP00000400147:G105E|.	.|ENSP00000365516:G179E|.	E|G|W	+|+|+	1|2|3	0|0|0	MAGIX|MAGIX|MAGIX	48909390|48909390|48909390	0.018000|0.018000|0.018000	0.18449|0.18449|0.18449	0.512000|0.512000|0.512000	0.27736|0.27736|0.27736	0.052000|0.052000|0.052000	0.14988|0.14988|0.14988	0.054000|0.054000|0.054000	0.14205|0.14205|0.14205	1.865000|1.865000|1.865000	0.54081|0.54081|0.54081	0.538000|0.538000|0.538000	0.68166|0.68166|0.68166	GAG|GGA|TGG		0.617	MAGIX-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378832.1	NM_024859		29	68	0	0	0	0.001786	0	29	68				
PCDH19	57526	broad.mit.edu	37	X	99662276	99662276	+	Silent	SNP	G	G	A			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chrX:99662276G>A	ENST00000373034.4	-	1	2995	c.1320C>T	c.(1318-1320)acC>acT	p.T440T	PCDH19_ENST00000420881.2_Silent_p.T440T|PCDH19_ENST00000255531.7_Silent_p.T440T	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	440	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T440T(1)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TGATGAGCACGGTAAAGGACT	0.577																																						ENST00000373034.4																			1	Substitution - coding silent(1)	p.T440T(1)	endometrium(1)	breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						c.(1318-1320)acC>acT		protocadherin 19							159.0	149.0	152.0					X																	99662276		2132	4224	6356	SO:0001819	synonymous_variant	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99662276G>A	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.1320C>T	X.37:g.99662276G>A						PCDH19_ENST00000255531.7_Silent_p.T440T|PCDH19_ENST00000420881.2_Silent_p.T440T	p.T440T	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN			1	2995	-			440			Cadherin 4.		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Silent	SNP	ENST00000373034.4	37	c.1320C>T	CCDS55462.1																																																																																				0.577	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		4	147	0	0	0	0.000602	0	4	147				
COQ5	84274	broad.mit.edu	37	12	120966932	120966932	+	Missense_Mutation	SNP	C	C	A	rs527630225		TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr12:120966932C>A	ENST00000288532.6	-	1	53	c.13G>T	c.(13-15)Ggg>Tgg	p.G5W	COQ5_ENST00000445328.2_Missense_Mutation_p.G5W	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	5					small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	methyltransferase activity (GO:0008168)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCACAGCTCCCGGGGGCCGCC	0.652																																						ENST00000288532.6																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20						c.(13-15)Ggg>Tgg		coenzyme Q5 homolog, methyltransferase (S. cerevisiae)							14.0	16.0	15.0					12																	120966932		2200	4295	6495	SO:0001583	missense	84274				ubiquinone biosynthetic process	mitochondrion	methyltransferase activity	g.chr12:120966932C>A	AK057777	CCDS31912.1	12q24.31	2011-09-16	2006-04-04		ENSG00000110871	ENSG00000110871	2.1.1.201		28722	protein-coding gene	gene with protein product	"""2-methoxy-6-polyprenyl-1,4-benzoquinol methylase"""		"""coenzyme Q5 homolog, methyltransferase (yeast)"""				Standard	NM_032314		Approved	MGC4767	uc001tyn.3	Q5HYK3	OTTHUMG00000169375	ENST00000288532.6:c.13G>T	12.37:g.120966932C>A	ENSP00000288532:p.Gly5Trp					COQ5_ENST00000445328.2_Missense_Mutation_p.G5W	p.G5W	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN			1	53	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		5					B4DEJ4|Q32Q28|Q53HH0|Q96LV1|Q9BSP8	Missense_Mutation	SNP	ENST00000288532.6	37	c.13G>T	CCDS31912.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.562498	0.45694	.	.	ENSG00000110871	ENST00000288532;ENST00000302223;ENST00000445328;ENST00000547943	T;T;T	0.76968	-0.06;-1.06;-0.06	5.9	-1.98	0.07480	.	1.262750	0.04611	N	0.400213	T	0.57621	0.2066	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.48375	-0.9041	10	0.59425	D	0.04	.	5.8022	0.18420	0.1245:0.3647:0.0:0.5108	.	5;5	B4DP72;Q5HYK3	.;COQ5_HUMAN	W	5	ENSP00000288532:G5W;ENSP00000401798:G5W;ENSP00000449874:G5W	ENSP00000288532:G5W	G	-	1	0	COQ5	119451315	0.044000	0.20184	0.027000	0.17364	0.005000	0.04900	-0.140000	0.10342	-0.339000	0.08401	-0.294000	0.09567	GGG		0.652	COQ5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403767.2	NM_032314		15	31	1	0	1.3612e-06	0.003163	1.58807e-06	15	31				
RELT	84957	broad.mit.edu	37	11	73102213	73102213	+	Silent	SNP	C	C	T			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr11:73102213C>T	ENST00000064780.2	+	5	573	c.312C>T	c.(310-312)ccC>ccT	p.P104P	RELT_ENST00000393580.2_Silent_p.P104P	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor	104						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						GGGGGGTTCCCCGCGTTCCAT	0.587																																						ENST00000064780.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						c.(310-312)ccC>ccT		RELT tumor necrosis factor receptor							155.0	141.0	146.0					11																	73102213		2200	4293	6493	SO:0001819	synonymous_variant	84957					cytoplasm|integral to membrane|plasma membrane	binding|receptor activity	g.chr11:73102213C>T	AF319553	CCDS8222.1	11q13.2	2013-05-22	2007-06-14	2007-06-14		ENSG00000054967		"""Tumor necrosis factor receptor superfamily"""	13764	protein-coding gene	gene with protein product		611211	"""tumor necrosis factor receptor superfamily, member 19-like"""	TNFRSF19L		11313261, 16547002, 16950202, 16389068	Standard	NM_032871		Approved	FLJ14993	uc001otv.3	Q969Z4		ENST00000064780.2:c.312C>T	11.37:g.73102213C>T						RELT_ENST00000393580.2_Silent_p.P104P	p.P104P	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN			5	573	+			104					Q86V34|Q96JU1|Q9BUX7	Silent	SNP	ENST00000064780.2	37	c.312C>T	CCDS8222.1																																																																																				0.587	RELT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397380.2	NM_032871		60	98	0	0	0	0.003610	0	60	98				
FUBP1	8880	broad.mit.edu	37	1	78432577	78432577	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr1:78432577T>C	ENST00000370768.2	-	6	487	c.406A>G	c.(406-408)Ata>Gta	p.I136V	FUBP1_ENST00000370767.1_Missense_Mutation_p.I136V|FUBP1_ENST00000436586.2_Missense_Mutation_p.I157V	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	136	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						CCAGGAGCTATCTGTATTTTG	0.318			"""F, N"""		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"""F, N"""	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		0				central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.(406-408)Ata>Gta		far upstream element (FUSE) binding protein 1							65.0	63.0	64.0					1																	78432577		2203	4299	6502	SO:0001583	missense	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78432577T>C	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.406A>G	1.37:g.78432577T>C	ENSP00000359804:p.Ile136Val					FUBP1_ENST00000436586.2_Missense_Mutation_p.I157V|FUBP1_ENST00000370768.2_Missense_Mutation_p.I136V	p.I136V			Q96AE4	FUBP1_HUMAN			6	493	-			136			KH 1.		Q12828	Missense_Mutation	SNP	ENST00000370768.2	37	c.406A>G	CCDS683.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.290193	0.80914	.	.	ENSG00000162613	ENST00000370773;ENST00000370767;ENST00000370768;ENST00000394922;ENST00000436586;ENST00000421641	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	5.46	5.46	0.80206	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.20414	0.0491	N	0.25060	0.705	0.58432	D	0.999998	P;B	0.44946	0.846;0.374	P;B	0.51806	0.68;0.267	T	0.03287	-1.1052	10	0.23302	T	0.38	-12.2137	15.817	0.78612	0.0:0.0:0.0:1.0	.	157;136	B4DT31;Q96AE4	.;FUBP1_HUMAN	V	135;136;136;135;157;156	ENSP00000359803:I136V;ENSP00000359804:I136V;ENSP00000389536:I157V;ENSP00000402630:I156V	ENSP00000294623:I135V	I	-	1	0	FUBP1	78205165	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.191000	0.72063	2.193000	0.70182	0.533000	0.62120	ATA		0.318	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		18	22	0	0	0	0.001523	0	18	22				
CLN8	2055	broad.mit.edu	37	8	1728624	1728624	+	Missense_Mutation	SNP	A	A	C			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr8:1728624A>C	ENST00000331222.4	+	3	999	c.752A>C	c.(751-753)cAt>cCt	p.H251P	CLN8_ENST00000523237.1_3'UTR	NM_018941.3	NP_061764.2	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)	251	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				adult walking behavior (GO:0007628)|age-dependent response to oxidative stress (GO:0001306)|associative learning (GO:0008306)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|ceramide biosynthetic process (GO:0046513)|ceramide metabolic process (GO:0006672)|cholesterol metabolic process (GO:0008203)|L-glutamate uptake involved in synaptic transmission (GO:0051935)|lipid biosynthetic process (GO:0008610)|lipid transport (GO:0006869)|lysosome organization (GO:0007040)|mitochondrial membrane organization (GO:0007006)|musculoskeletal movement (GO:0050881)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteolysis (GO:0045861)|negative regulation of transferase activity (GO:0051348)|nervous system development (GO:0007399)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|phospholipid metabolic process (GO:0006644)|photoreceptor cell maintenance (GO:0045494)|protein catabolic process (GO:0030163)|regulation of cell size (GO:0008361)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic motor neuron differentiation (GO:0021523)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		TATTGGACCCATAAGAAGACT	0.542																																					Pancreas(155;338 1942 6138 10888 50612)	ENST00000331222.4																			0				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(751-753)cAt>cCt		ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)							158.0	141.0	147.0					8																	1728624		2203	4300	6503	SO:0001583	missense	2055				cell death|ceramide biosynthetic process|cholesterol metabolic process|lipid transport|negative regulation of proteolysis|phospholipid metabolic process	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane		g.chr8:1728624A>C	AF123761	CCDS5956.1	8p23.3	2014-09-17			ENSG00000182372	ENSG00000182372			2079	protein-coding gene	gene with protein product		607837	"""chromosome 8 open reading frame 61"""	EPMR, C8orf61		10508524	Standard	NM_018941		Approved	FLJ39417	uc003wpo.4	Q9UBY8	OTTHUMG00000090343	ENST00000331222.4:c.752A>C	8.37:g.1728624A>C	ENSP00000328182:p.His251Pro					CLN8_ENST00000523237.1_3'UTR	p.H251P	NM_018941.3	NP_061764.2	Q9UBY8	CLN8_HUMAN		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)	3	999	+		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)	251			TLC.		Q86U71|Q96I95	Missense_Mutation	SNP	ENST00000331222.4	37	c.752A>C	CCDS5956.1	.	.	.	.	.	.	.	.	.	.	A	14.43	2.532893	0.45073	.	.	ENSG00000182372	ENST00000331222	D	0.85088	-1.94	4.65	3.49	0.39957	TRAM/LAG1/CLN8 homology domain (3);	0.089964	0.43919	U	0.000502	D	0.88890	0.6560	M	0.65975	2.015	0.53688	D	0.999978	D	0.65815	0.995	D	0.63283	0.913	D	0.86849	0.2022	10	0.40728	T	0.16	-5.3596	10.0911	0.42447	0.9207:0.0:0.0793:0.0	.	251	Q9UBY8	CLN8_HUMAN	P	251	ENSP00000328182:H251P	ENSP00000328182:H251P	H	+	2	0	CLN8	1716031	1.000000	0.71417	0.894000	0.35097	0.097000	0.18754	6.633000	0.74286	0.813000	0.34350	0.528000	0.53228	CAT		0.542	CLN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206715.2	NM_018941		31	161	0	0	0	0.001786	0	31	161				
SSPO	23145	broad.mit.edu	37	7	149486393	149486393	+	RNA	SNP	C	C	T	rs116737043		TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr7:149486393C>T	ENST00000378016.2	+	0	4369							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCAGGGCTTGCTGGCCTGTGC	0.677																																						ENST00000378016.2																			0													SCO-spondin							22.0	27.0	25.0					7																	149486393		2197	4296	6493			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149486393C>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149486393C>T										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	4369	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.677	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				3	40	0	0	0	0.000248	0	3	40				
SAGE1	55511	broad.mit.edu	37	X	134992597	134992597	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chrX:134992597C>T	ENST00000370709.3	+	15	1888	c.1888C>T	c.(1888-1890)Cgt>Tgt	p.R630C	SAGE1_ENST00000537770.1_Missense_Mutation_p.R254C|SAGE1_ENST00000324447.3_Missense_Mutation_p.R630C|SAGE1_ENST00000535938.1_Missense_Mutation_p.R630C			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	630						nucleus (GO:0005634)				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					TCACAACATCCGTGAAGAGAA	0.488																																						ENST00000535938.1																			0				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(1888-1890)Cgt>Tgt		sarcoma antigen 1							133.0	108.0	116.0					X																	134992597		2203	4300	6503	SO:0001583	missense	55511							g.chrX:134992597C>T	AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"""cancer/testis antigen 14"""	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.1888C>T	X.37:g.134992597C>T	ENSP00000359743:p.Arg630Cys					SAGE1_ENST00000324447.3_Missense_Mutation_p.R630C|SAGE1_ENST00000537770.1_Missense_Mutation_p.R254C|SAGE1_ENST00000370709.3_Missense_Mutation_p.R630C	p.R630C	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN			16	2055	+	Acute lymphoblastic leukemia(192;0.000127)		630					Q5JNW0	Missense_Mutation	SNP	ENST00000370709.3	37	c.1888C>T	CCDS14652.1	.	.	.	.	.	.	.	.	.	.	C	10.34	1.324219	0.24080	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000537770;ENST00000370709	T;T;T;T	0.36157	1.27;1.27;1.41;1.27	1.22	0.3	0.15776	.	0.000000	0.64402	U	0.000002	T	0.15696	0.0378	N	0.19112	0.55	0.09310	N	1	P;B	0.34977	0.478;0.056	B;B	0.27608	0.081;0.016	T	0.11665	-1.0578	10	0.33141	T	0.24	.	4.4652	0.11685	0.0:0.75:0.0:0.25	.	254;630	F5H2Z8;Q9NXZ1	.;SAGE1_HUMAN	C	630;630;254;630	ENSP00000323191:R630C;ENSP00000445959:R630C;ENSP00000438276:R254C;ENSP00000359743:R630C	ENSP00000323191:R630C	R	+	1	0	SAGE1	134820263	0.001000	0.12720	0.003000	0.11579	0.007000	0.05969	0.095000	0.15127	-0.069000	0.12931	-1.111000	0.02071	CGT		0.488	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666		63	126	0	0	0	0.003610	0	63	126				
UQCC2	84300	broad.mit.edu	37	6	33665498	33665498	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr6:33665498T>C	ENST00000607484.1	-	4	353	c.313A>G	c.(313-315)Aaa>Gaa	p.K105E	UQCC2_ENST00000374214.3_Missense_Mutation_p.K80E|SBP1_ENST00000594414.1_5'Flank|MIR3934_ENST00000579806.1_RNA	NM_032340.3	NP_115716.1	Q9BRT2	UQCC2_HUMAN	ubiquinol-cytochrome c reductase complex assembly factor 2	105					regulation of insulin secretion (GO:0050796)|regulation of oxidative phosphorylation (GO:0002082)|regulation of skeletal muscle cell differentiation (GO:2001014)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											CACATGCCTTTATCTATTTCC	0.478																																						ENST00000607484.1																			0											c.(313-315)Aaa>Gaa									112.0	106.0	108.0					6																	33665498		2203	4300	6503	SO:0001583	missense	0							g.chr6:33665498T>C		CCDS4784.1	6p21.31	2013-09-20	2013-09-20	2013-09-20	ENSG00000137288	ENSG00000137288		"""Mitochondrial respiratory chain complex assembly factors"""	21237	protein-coding gene	gene with protein product	"""cytochrome B protein synthesis 6 homolog (S. cerevisiae)"""	614461	"""chromosome 6 open reading frame 125"", ""mitochondrial nucleoid factor 1"""	C6orf125, MNF1		19643811	Standard	NM_032340		Approved	MGC14833, bA6B20.2, M19, Cbp6	uc003ofa.2	Q9BRT2	OTTHUMG00000014534	ENST00000607484.1:c.313A>G	6.37:g.33665498T>C	ENSP00000476140:p.Lys105Glu					MNF1_ENST00000374214.3_Missense_Mutation_p.K80E	p.K105E	NM_032340.3	NP_115716.1	Q9BRT2	CF125_HUMAN			4	353	-			105					B2R4I0	Missense_Mutation	SNP	ENST00000607484.1	37	c.313A>G	CCDS4784.1	.	.	.	.	.	.	.	.	.	.	T	16.62	3.174090	0.57692	.	.	ENSG00000137288	ENST00000374231;ENST00000374214	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.69548	0.3123	M	0.62209	1.925	0.42313	D	0.992225	D	0.65815	0.995	D	0.68765	0.96	T	0.72530	-0.4265	9	0.52906	T	0.07	.	14.0846	0.64947	0.0:0.0:0.0:1.0	.	105	Q9BRT2	CF125_HUMAN	E	105;80	.	ENSP00000363331:K80E	K	-	1	0	C6orf125	33773476	1.000000	0.71417	0.929000	0.37066	0.081000	0.17604	5.316000	0.65815	2.269000	0.75478	0.533000	0.62120	AAA		0.478	UQCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040207.2	NM_032340		24	56	0	0	0	0.006320	0	24	56				
PDE6B	5158	broad.mit.edu	37	4	658702	658702	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr4:658702C>T	ENST00000496514.1	+	18	2183	c.2162C>T	c.(2161-2163)gCc>gTc	p.A721V	RP11-1191J2.5_ENST00000609172.1_RNA|PDE6B_ENST00000255622.6_Missense_Mutation_p.A721V|PDE6B_ENST00000429163.2_Missense_Mutation_p.A442V			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	721					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	GACCTGTCTGCCATCACCAAG	0.602																																					GBM(71;463 1194 9848 25922 46834)	ENST00000255622.6																			0				NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						c.(2161-2163)gCc>gTc		phosphodiesterase 6B, cGMP-specific, rod, beta							83.0	78.0	79.0					4																	658702		2203	4300	6503	SO:0001583	missense	5158				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr4:658702C>T	BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"""Phosphodiesterases"""	8786	protein-coding gene	gene with protein product	"""congenital stationary night blindness 3, autosomal dominant"""	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.2162C>T	4.37:g.658702C>T	ENSP00000420295:p.Ala721Val					PDE6B_ENST00000496514.1_Missense_Mutation_p.A721V|PDE6B_ENST00000429163.2_Missense_Mutation_p.A442V	p.A721V	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN			18	2205	+			721					B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Missense_Mutation	SNP	ENST00000496514.1	37	c.2162C>T	CCDS33932.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.1|27.1	4.798707|4.798707	0.90538|0.90538	.|.	.|.	ENSG00000133256|ENSG00000133256	ENST00000255622;ENST00000496514;ENST00000429163;ENST00000471824|ENST00000461490	T;T;T;T|.	0.77750|.	-1.12;-1.12;-1.12;-1.12|.	4.27|4.27	4.27|4.27	0.50696|0.50696	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);|.	0.111526|.	0.64402|.	D|.	0.000012|.	D|D	0.83450|0.83450	0.5257|0.5257	M|M	0.91406|0.91406	3.205|3.205	0.58432|0.58432	D|D	0.999999|0.999999	P;P|.	0.37015|.	0.578;0.518|.	P;P|.	0.51550|.	0.673;0.462|.	D|D	0.87612|0.87612	0.2504|0.2504	10|5	0.87932|.	D|.	0|.	.|.	14.555|14.555	0.68094|0.68094	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	721;721|.	P35913;P35913-2|.	PDE6B_HUMAN;.|.	V|S	721;721;442;81|2	ENSP00000255622:A721V;ENSP00000420295:A721V;ENSP00000406334:A442V;ENSP00000417852:A81V|.	ENSP00000255622:A721V|.	A|P	+|+	2|1	0|0	PDE6B|PDE6B	648702|648702	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.911000|0.911000	0.54048|0.54048	5.551000|5.551000	0.67274|0.67274	2.073000|2.073000	0.62155|0.62155	0.484000|0.484000	0.47621|0.47621	GCC|CCA		0.602	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358109.1	NM_000283		4	99	0	0	0	0.000602	0	4	99				
CD3D	915	broad.mit.edu	37	11	118211223	118211223	+	Silent	SNP	C	C	T	rs201021372		TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr11:118211223C>T	ENST00000300692.4	-	2	277	c.141G>A	c.(139-141)acG>acA	p.T47T	CD3D_ENST00000529594.1_Intron|CD3D_ENST00000392884.2_Silent_p.T47T	NM_000732.4	NP_000723.1	P04234	CD3D_HUMAN	CD3d molecule, delta (CD3-TCR complex)	47					cell surface receptor signaling pathway (GO:0007166)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive thymic T cell selection (GO:0045059)|regulation of immune response (GO:0050776)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	alpha-beta T cell receptor complex (GO:0042105)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	protein heterodimerization activity (GO:0046982)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	9	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	Muromonab(DB00075)	GTGTTCCCACCGTTCCCTCTA	0.458																																						ENST00000300692.4																			0				large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	9						c.(139-141)acG>acA		CD3d molecule, delta (CD3-TCR complex)							196.0	146.0	163.0					11																	118211223		2200	4296	6496	SO:0001819	synonymous_variant	915				positive thymic T cell selection|T cell costimulation|T cell receptor signaling pathway	cytoplasm|integral to membrane	protein heterodimerization activity	g.chr11:118211223C>T	X01451	CCDS8394.1, CCDS41724.1	11q23	2014-09-17	2006-03-28		ENSG00000167286	ENSG00000167286		"""CD molecules"""	1673	protein-coding gene	gene with protein product		186790	"""CD3d antigen, delta polypeptide (TiT3 complex)"""	T3D			Standard	NM_000732		Approved		uc001pss.1	P04234	OTTHUMG00000166970	ENST00000300692.4:c.141G>A	11.37:g.118211223C>T						CD3D_ENST00000392884.2_Silent_p.T47T|CD3D_ENST00000529594.1_Intron	p.T47T	NM_000732.4	NP_000723.1	P04234	CD3D_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	2	277	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	47					A8MVP6	Silent	SNP	ENST00000300692.4	37	c.141G>A	CCDS8394.1	.	.	.	.	.	.	.	.	.	.	C	4.050	0.006917	0.07866	.	.	ENSG00000167286	ENST00000534687	.	.	.	5.14	-10.3	0.00346	.	.	.	.	.	T	0.35799	0.0944	.	.	.	0.36377	D	0.861673	.	.	.	.	.	.	T	0.52268	-0.8598	4	.	.	.	-10.8905	4.6572	0.12624	0.1415:0.0893:0.2231:0.5461	.	.	.	.	S	52	.	.	G	-	1	0	CD3D	117716433	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-4.212000	0.00273	-4.469000	0.00047	-1.020000	0.02445	GGT		0.458	CD3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392128.1	NM_000732		16	46	0	0	0	0.007413	0	16	46				
NCOA1	8648	broad.mit.edu	37	2	24952593	24952593	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr2:24952593G>A	ENST00000406961.1	+	17	3762	c.3110G>A	c.(3109-3111)gGc>gAc	p.G1037D	NCOA1_ENST00000405141.1_Missense_Mutation_p.G1037D|NCOA1_ENST00000348332.3_Missense_Mutation_p.G1037D|NCOA1_ENST00000407230.1_Missense_Mutation_p.G886D|NCOA1_ENST00000288599.5_Missense_Mutation_p.G1037D|NCOA1_ENST00000395856.3_Missense_Mutation_p.G1037D|NCOA1_ENST00000538539.1_Missense_Mutation_p.G1037D			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	1037					androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGGCATGGGCATGCAGCCC	0.542			T	PAX3	alveolar rhadomyosarcoma																																	ENST00000405141.1				Dom	yes		2	2p23	8648	T	nuclear receptor coactivator 1			M	PAX3		alveolar rhadomyosarcoma	PAX3/NCOA1(8)	0				breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53						c.(3109-3111)gGc>gAc		nuclear receptor coactivator 1							114.0	114.0	114.0					2																	24952593		2203	4300	6503	SO:0001583	missense	8648							g.chr2:24952593G>A	U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.3110G>A	2.37:g.24952593G>A	ENSP00000385216:p.Gly1037Asp					NCOA1_ENST00000348332.3_Missense_Mutation_p.G1037D|NCOA1_ENST00000406961.1_Missense_Mutation_p.G1037D|NCOA1_ENST00000538539.1_Missense_Mutation_p.G1037D|NCOA1_ENST00000288599.5_Missense_Mutation_p.G1037D|NCOA1_ENST00000407230.1_Missense_Mutation_p.G886D|NCOA1_ENST00000395856.3_Missense_Mutation_p.G1037D	p.G1037D			Q15788	NCOA1_HUMAN			18	3821	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1037					O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Missense_Mutation	SNP	ENST00000406961.1	37	c.3110G>A	CCDS1712.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.203685	0.58234	.	.	ENSG00000084676	ENST00000406961;ENST00000405141;ENST00000407230;ENST00000538539;ENST00000348332;ENST00000288599;ENST00000395856	T;T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66;0.66	5.51	5.51	0.81932	.	0.172578	0.49916	D	0.000122	T	0.45094	0.1325	L	0.49778	1.585	0.48511	D	0.999663	B;B;B;B	0.34290	0.447;0.319;0.241;0.155	B;B;B;B	0.34180	0.177;0.086;0.177;0.086	T	0.39563	-0.9608	10	0.44086	T	0.13	.	16.0087	0.80380	0.0:0.1346:0.8654:0.0	.	1037;1037;1037;886	Q15788-3;Q15788;Q15788-2;B5MCN7	.;NCOA1_HUMAN;.;.	D	1037;1037;886;1037;1037;1037;1037	ENSP00000385216:G1037D;ENSP00000385097:G1037D;ENSP00000385195:G886D;ENSP00000444039:G1037D;ENSP00000320940:G1037D;ENSP00000288599:G1037D;ENSP00000379197:G1037D	ENSP00000288599:G1037D	G	+	2	0	NCOA1	24806097	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.297000	0.51810	2.775000	0.95449	0.585000	0.79938	GGC		0.542	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	NM_147223		4	194	0	0	0	0.000248	0	4	194				
C20orf24	55969	broad.mit.edu	37	20	35236193	35236193	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr20:35236193C>T	ENST00000373852.5	+	2	325	c.190C>T	c.(190-192)Cca>Tca	p.P64S	C20orf24_ENST00000342422.3_Missense_Mutation_p.P64S|C20orf24_ENST00000344795.3_Missense_Mutation_p.P64S|TGIF2-C20orf24_ENST00000558530.1_Missense_Mutation_p.P90S			Q9BUV8	CT024_HUMAN	chromosome 20 open reading frame 24	64										breast(1)|kidney(1)|lung(2)	4	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				GGGAGTTTTGCCATTACGAGG	0.393																																						ENST00000344795.3																			0				breast(1)|kidney(1)|lung(2)	4						c.(190-192)Cca>Tca		chromosome 20 open reading frame 24							181.0	166.0	171.0					20																	35236193		2203	4300	6503	SO:0001583	missense	55969							g.chr20:35236193C>T	AF112213	CCDS13279.1, CCDS13280.1, CCDS56190.1	20q11.23	2011-01-25			ENSG00000101084	ENSG00000101084			15870	protein-coding gene	gene with protein product						15178406	Standard	NM_018840		Approved	PNAS-11, RIP5		Q9BUV8	OTTHUMG00000032384	ENST00000373852.5:c.190C>T	20.37:g.35236193C>T	ENSP00000362958:p.Pro64Ser					C20orf24_ENST00000342422.3_Missense_Mutation_p.P64S|C20orf24_ENST00000373852.5_Missense_Mutation_p.P64S|TGIF2-C20orf24_ENST00000558530.1_Missense_Mutation_p.P90S	p.P64S	NM_001199534.1|NM_018840.4	NP_001186463.1|NP_061328.1					2	408	+	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)						E1P5U0|O00605|Q5QPG6|Q5QPG7|Q9BT03|Q9BZU7|Q9UI05	Missense_Mutation	SNP	ENST00000373852.5	37	c.190C>T	CCDS56190.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.900295	0.92035	.	.	ENSG00000101084	ENST00000344795;ENST00000373852;ENST00000342422	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.76169	0.3950	L	0.53671	1.685	0.80722	D	1	D;D;D;D;D	0.89917	0.964;1.0;1.0;0.997;1.0	P;D;D;P;D	0.91635	0.605;0.999;0.999;0.895;0.996	T	0.76542	-0.2921	9	0.59425	D	0.04	-28.7991	17.3252	0.87245	0.0:1.0:0.0:0.0	.	64;64;64;64;64	Q9BUV8;Q5QPG6;Q9BUV8-2;Q9BUV8-3;Q9BUV8-4	CT024_HUMAN;.;.;.;.	S	64	.	ENSP00000341213:P64S	P	+	1	0	C20orf24	34669607	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.297000	0.78799	2.675000	0.91044	0.655000	0.94253	CCA		0.393	C20orf24-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079006.1	NM_018840		4	148	0	0	0	0.000248	0	4	148				
LRIG3	121227	broad.mit.edu	37	12	59272814	59272814	+	Silent	SNP	A	A	C			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr12:59272814A>C	ENST00000320743.3	-	14	2161	c.1875T>G	c.(1873-1875)gcT>gcG	p.A625A	LRIG3_ENST00000379141.4_Silent_p.A565A	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	625	Ig-like C2-type 2.				otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			GCCCCACAGCAGCACACTCCA	0.587			T	ROS1	NSCLC																																	ENST00000320743.3				Dom	yes		12	12q14.1	121227	T	leucine-rich repeats and immunoglobulin-like domains 3			E	ROS1		NSCLC	LRIG3/ROS1(2)	0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1873-1875)gcT>gcG		leucine-rich repeats and immunoglobulin-like domains 3							53.0	44.0	47.0					12																	59272814		2203	4300	6503	SO:0001819	synonymous_variant	121227					integral to membrane		g.chr12:59272814A>C	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.1875T>G	12.37:g.59272814A>C						LRIG3_ENST00000379141.4_Silent_p.A565A	p.A625A	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		14	2161	-			625			Ig-like C2-type 2.		Q6UXL7|Q8NC72	Silent	SNP	ENST00000320743.3	37	c.1875T>G	CCDS8960.1																																																																																				0.587	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		13	39	0	0	0	0.001855	0	13	39				
ABCC12	94160	broad.mit.edu	37	16	48162529	48162529	+	Silent	SNP	G	G	A			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr16:48162529G>A	ENST00000311303.3	-	9	1701	c.1356C>T	c.(1354-1356)acC>acT	p.T452T	ABCC12_ENST00000416054.1_Silent_p.T452T|ABCC12_ENST00000448542.1_Silent_p.T452T	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	452						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				ATTTCTTTGGGGTACTTTTCC	0.507																																						ENST00000311303.3																			0				NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90						c.(1354-1356)acC>acT		ATP-binding cassette, sub-family C (CFTR/MRP), member 12							166.0	142.0	150.0					16																	48162529		2201	4300	6501	SO:0001819	synonymous_variant	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48162529G>A	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.1356C>T	16.37:g.48162529G>A						ABCC12_ENST00000448542.1_Silent_p.T452T|ABCC12_ENST00000416054.1_Silent_p.T452T	p.T452T	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN			9	1701	-		all_cancers(37;0.0474)|all_lung(18;0.047)	452					Q49AL2|Q8TAF0|Q8TEY2	Silent	SNP	ENST00000311303.3	37	c.1356C>T	CCDS10730.1																																																																																				0.507	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		33	65	0	0	0	0.001786	0	33	65				
HSP90AB2P	391634	broad.mit.edu	37	4	13339453	13339453	+	RNA	SNP	G	G	A	rs16898654	byFrequency	TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr4:13339453G>A	ENST00000602906.1	+	0	862							Q58FF8	H90B2_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 2, pseudogene						protein folding (GO:0006457)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			kidney(3)|lung(1)	4						GATGCCACCCGTCTGAGCTGC	0.428													A|||	386	0.0770767	0.2534	0.0317	5008	,	,		21633	0.0		0.0189	False		,,,				2504	0.0102					ENST00000602906.1																			0				kidney(3)|lung(1)	4																																														0							g.chr4:13339453G>A	AY956763		4p15.33	2012-04-18	2011-04-15		ENSG00000205940	ENSG00000205940			32537	pseudogene	pseudogene			"""heat shock protein 90kDa alpha (cytosolic), class B member 2 (pseudogene)"""			16269234	Standard	NG_032979		Approved	HSP90BB		Q58FF8			4.37:g.13339453G>A														0	862	+									RNA	SNP	ENST00000602906.1	37																																																																																						0.428	HSP90AB2P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000359156.2			8	15	0	0	0	0.006214	0	8	15				
GGT1	2678	broad.mit.edu	37	22	25023484	25023484	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr22:25023484A>G	ENST00000400382.1	+	12	1861	c.1106A>G	c.(1105-1107)tAc>tGc	p.Y369C	GGT1_ENST00000400380.1_Missense_Mutation_p.Y369C|GGT1_ENST00000403838.1_Missense_Mutation_p.Y25C|GGT1_ENST00000406383.2_Missense_Mutation_p.Y369C|GGT1_ENST00000401885.1_Missense_Mutation_p.Y25C|GGT1_ENST00000404223.1_Missense_Mutation_p.Y25C|GGT1_ENST00000466310.1_3'UTR|GGT1_ENST00000404920.1_Missense_Mutation_p.Y25C|GGT1_ENST00000400383.1_Missense_Mutation_p.Y369C|GGT1_ENST00000404532.1_Missense_Mutation_p.Y25C|GGT1_ENST00000248923.4_Missense_Mutation_p.Y369C			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	369					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	ATCTCCTACTACAAGCCCGAG	0.632																																						ENST00000400382.1																			0				breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40						c.(1105-1107)tAc>tGc		gamma-glutamyltransferase 1	Glutathione(DB00143)						31.0	31.0	31.0					22																	25023484		2199	4293	6492	SO:0001583	missense	2678				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding	g.chr22:25023484A>G	M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"""CD molecules"", ""Gamma-glutamyltransferases"""	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000400382.1:c.1106A>G	22.37:g.25023484A>G	ENSP00000383232:p.Tyr369Cys					GGT1_ENST00000406383.2_Missense_Mutation_p.Y369C|GGT1_ENST00000403838.1_Missense_Mutation_p.Y25C|GGT1_ENST00000404920.1_Missense_Mutation_p.Y25C|GGT1_ENST00000400380.1_Missense_Mutation_p.Y369C|GGT1_ENST00000404532.1_Missense_Mutation_p.Y25C|GGT1_ENST00000400383.1_Missense_Mutation_p.Y369C|GGT1_ENST00000401885.1_Missense_Mutation_p.Y25C|GGT1_ENST00000466310.1_3'UTR|GGT1_ENST00000248923.4_Missense_Mutation_p.Y369C|GGT1_ENST00000404223.1_Missense_Mutation_p.Y25C	p.Y369C			P19440	GGT1_HUMAN			12	1861	+			369					Q08247|Q14404|Q8TBS1|Q9UMK1	Missense_Mutation	SNP	ENST00000400382.1	37	c.1106A>G	CCDS42992.1	.	.	.	.	.	.	.	.	.	.	.	13.92	2.382270	0.42207	.	.	ENSG00000100031	ENST00000248923;ENST00000412658;ENST00000400382;ENST00000400383;ENST00000400380;ENST00000406383;ENST00000401885;ENST00000404532;ENST00000403838;ENST00000404223;ENST00000404920	T;T;T;T;T;T;T;T;T;T;T	0.08102	3.13;3.13;3.13;3.13;3.13;3.13;3.13;3.13;3.13;3.13;3.13	3.54	3.54	0.40534	.	0.000000	0.85682	D	0.000000	T	0.42404	0.1201	H	0.98005	4.125	0.47862	D	0.999535	D	0.89917	1.0	D	0.97110	1.0	T	0.61287	-0.7093	10	0.72032	D	0.01	-44.3186	11.7607	0.51900	1.0:0.0:0.0:0.0	.	369	P19440	GGT1_HUMAN	C	369;369;369;369;369;369;25;25;25;25;25	ENSP00000248923:Y369C;ENSP00000393537:Y369C;ENSP00000383232:Y369C;ENSP00000383233:Y369C;ENSP00000383231:Y369C;ENSP00000385975:Y369C;ENSP00000384381:Y25C;ENSP00000385445:Y25C;ENSP00000384820:Y25C;ENSP00000385016:Y25C;ENSP00000385001:Y25C	ENSP00000248923:Y369C	Y	+	2	0	GGT1	23353484	1.000000	0.71417	0.383000	0.26132	0.033000	0.12548	8.611000	0.90905	1.619000	0.50296	0.248000	0.18094	TAC		0.632	GGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250797.1	NM_013430		3	105	0	0	0	0.000248	0	3	105				
BTNL3	10917	broad.mit.edu	37	5	180420089	180420089	+	Missense_Mutation	SNP	T	T	A			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr5:180420089T>A	ENST00000342868.6	+	2	510	c.326T>A	c.(325-327)aTc>aAc	p.I109N		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	109						integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			CCCTCGGACATCGGCCTGTAT	0.522																																						ENST00000342868.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25						c.(325-327)aTc>aAc		butyrophilin-like 3							74.0	70.0	72.0					5																	180420089		1962	3790	5752	SO:0001583	missense	10917				lipid metabolic process	integral to membrane		g.chr5:180420089T>A	AB020625	CCDS47358.1	5q35	2014-01-14			ENSG00000168903	ENSG00000168903		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1143	protein-coding gene	gene with protein product	"""butyrophilin-like receptor"""	606192				10429365	Standard	NM_197975		Approved	BTNLR, BTN9.1	uc003mmr.3	Q6UXE8	OTTHUMG00000162091	ENST00000342868.6:c.326T>A	5.37:g.180420089T>A	ENSP00000341787:p.Ile109Asn						p.I109N	NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)		2	510	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	109					Q496L7|Q9Y2C7	Missense_Mutation	SNP	ENST00000342868.6	37	c.326T>A	CCDS47358.1	.	.	.	.	.	.	.	.	.	.	T	7.686	0.690055	0.15039	.	.	ENSG00000168903	ENST00000342868;ENST00000376852	T	0.64260	-0.09	2.9	-5.8	0.02347	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.18841	0.0452	N	0.00483	-1.445	0.09310	N	1	B	0.30889	0.299	B	0.26310	0.068	T	0.32322	-0.9911	9	0.06494	T	0.89	.	7.8936	0.29693	0.7293:0.1625:0.0:0.1082	.	109	Q6UXE8	BTNL3_HUMAN	N	109	ENSP00000341787:I109N	ENSP00000341787:I109N	I	+	2	0	BTNL3	180352695	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.055000	0.11807	-1.114000	0.02977	-0.744000	0.03518	ATC		0.522	BTNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367176.2	NM_197975		13	2	0	0	0	0.001855	0	13	2				
SSTR3	6753	broad.mit.edu	37	22	37603800	37603800	+	Missense_Mutation	SNP	G	G	T			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr22:37603800G>T	ENST00000328544.3	-	2	576	c.43C>A	c.(43-45)Cct>Act	p.P15T	SSTR3_ENST00000402501.1_Missense_Mutation_p.P15T	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	15					cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of cell proliferation (GO:0008285)|response to starvation (GO:0042594)|somatostatin signaling pathway (GO:0038170)|spermatogenesis (GO:0007283)	ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14					Pasireotide(DB06663)	GCATTCTCAGGTTCTGAGGTC	0.632																																						ENST00000328544.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						c.(43-45)Cct>Act		somatostatin receptor 3							58.0	55.0	56.0					22																	37603800		2203	4300	6503	SO:0001583	missense	0				G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity	g.chr22:37603800G>T		CCDS13944.1	22q13.1	2012-08-08			ENSG00000183473	ENSG00000278195		"""GPCR / Class A : Somatostatin receptors"""	11332	protein-coding gene	gene with protein product		182453				8449518	Standard	XM_006724311		Approved		uc003arb.3	P32745	OTTHUMG00000150537	ENST00000328544.3:c.43C>A	22.37:g.37603800G>T	ENSP00000330138:p.Pro15Thr					SSTR3_ENST00000402501.1_Missense_Mutation_p.P15T	p.P15T	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN			2	576	-			15					A8K550|Q53ZR7	Missense_Mutation	SNP	ENST00000328544.3	37	c.43C>A	CCDS13944.1	.	.	.	.	.	.	.	.	.	.	G	0.709	-0.787734	0.02884	.	.	ENSG00000183473	ENST00000328544;ENST00000402501	T;T	0.71698	-0.59;-0.59	5.61	2.31	0.28768	.	0.000000	0.85682	D	0.000000	T	0.54143	0.1840	L	0.47716	1.5	0.09310	N	0.999999	P	0.43094	0.799	B	0.33339	0.162	T	0.43360	-0.9396	10	0.22109	T	0.4	.	9.2642	0.37630	0.0802:0.4572:0.4626:0.0	.	15	P32745	SSR3_HUMAN	T	15	ENSP00000330138:P15T;ENSP00000384904:P15T	ENSP00000330138:P15T	P	-	1	0	SSTR3	35933746	0.522000	0.26266	0.016000	0.15963	0.018000	0.09664	1.743000	0.38258	0.292000	0.22492	0.557000	0.71058	CCT		0.632	SSTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318802.1			20	46	1	0	5.26018e-13	0.001882	6.24089e-13	20	46				
SPTBN1	6711	broad.mit.edu	37	2	54876248	54876248	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr2:54876248A>G	ENST00000356805.4	+	25	5404	c.5123A>G	c.(5122-5124)gAc>gGc	p.D1708G	SPTBN1_ENST00000333896.5_Missense_Mutation_p.D1695G	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1708	Interaction with ANK2.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CGGGAGGTGGACGACCTGGAG	0.542																																						ENST00000333896.5																			0				NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82						c.(5083-5085)gAc>gGc		spectrin, beta, non-erythrocytic 1							97.0	85.0	89.0					2																	54876248		2203	4300	6503	SO:0001583	missense	0				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54876248A>G		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.5123A>G	2.37:g.54876248A>G	ENSP00000349259:p.Asp1708Gly					SPTBN1_ENST00000356805.4_Missense_Mutation_p.D1708G	p.D1695G	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	Lung(47;0.24)		24	5469	+			1708			Interaction with ANK2.		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.5084A>G	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	A	33	5.237400	0.95240	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.54866	0.55;1.17	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.67097	0.2857	M	0.87456	2.885	0.80722	D	1	B;P	0.34562	0.191;0.457	B;B	0.42343	0.209;0.384	T	0.71642	-0.4531	10	0.72032	D	0.01	.	16.3351	0.83056	1.0:0.0:0.0:0.0	.	1695;1708	Q01082-3;Q01082	.;SPTB2_HUMAN	G	1708;1695	ENSP00000349259:D1708G;ENSP00000334156:D1695G	ENSP00000334156:D1695G	D	+	2	0	SPTBN1	54729752	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	9.220000	0.95180	2.262000	0.75019	0.528000	0.53228	GAC		0.542	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			3	100	0	0	0	0.000248	0	3	100				
TUBB8P7	197331	broad.mit.edu	37	16	90161602	90161602	+	RNA	SNP	T	T	C	rs368455696		TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr16:90161602T>C	ENST00000564451.1	+	0	955				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		GCGGAGCTGATGGAGTCAGTG	0.612																																						ENST00000564451.1																			0																																																			0							g.chr16:90161602T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161602T>C						TUBB8P7_ENST00000567960.1_RNA								0	955	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.612	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		4	40	0	0	0	0.000248	0	4	40				
OR1L3	26735	broad.mit.edu	37	9	125437655	125437655	+	Missense_Mutation	SNP	G	G	A	rs142972365		TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr9:125437655G>A	ENST00000304820.2	+	1	341	c.247G>A	c.(247-249)Gtg>Atg	p.V83M		NM_001005234.1	NP_001005234.1	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L, member 3	83						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						AAAGATGCTCGTGAACTTCTT	0.398																																						ENST00000304820.2																			0				breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						c.(247-249)Gtg>Atg		olfactory receptor, family 1, subfamily L, member 3							163.0	160.0	161.0					9																	125437655		2203	4300	6503	SO:0001583	missense	26735				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125437655G>A		CCDS35128.1	9q33.2	2013-09-20			ENSG00000171481	ENSG00000171481		"""GPCR / Class A : Olfactory receptors"""	8215	protein-coding gene	gene with protein product							Standard	NM_001005234		Approved	OR9-D	uc011lzb.2	Q8NH93	OTTHUMG00000020619	ENST00000304820.2:c.247G>A	9.37:g.125437655G>A	ENSP00000302863:p.Val83Met						p.V83M	NM_001005234.1	NP_001005234.1	Q8NH93	OR1L3_HUMAN			1	341	+			83					B2RNF4|Q6IFN1	Missense_Mutation	SNP	ENST00000304820.2	37	c.247G>A	CCDS35128.1	.	.	.	.	.	.	.	.	.	.	G	10.10	1.258311	0.23051	.	.	ENSG00000171481	ENST00000304820	T	0.01981	4.52	4.54	2.6	0.31112	GPCR, rhodopsin-like superfamily (1);	0.410486	0.17252	N	0.181120	T	0.02848	0.0085	L	0.60455	1.87	0.09310	N	1	B	0.19445	0.036	B	0.20384	0.029	T	0.39099	-0.9630	10	0.44086	T	0.13	-4.9212	4.6543	0.12610	0.2193:0.2958:0.4849:0.0	.	83	Q8NH93	OR1L3_HUMAN	M	83	ENSP00000302863:V83M	ENSP00000302863:V83M	V	+	1	0	OR1L3	124477476	0.000000	0.05858	0.887000	0.34795	0.935000	0.57460	-3.335000	0.00508	0.598000	0.29829	0.644000	0.83932	GTG		0.398	OR1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053950.1			57	139	0	0	0	0.003610	0	57	139				
AGAP2	116986	broad.mit.edu	37	12	58126704	58126704	+	Silent	SNP	G	G	A	rs553490960		TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr12:58126704G>A	ENST00000547588.1	-	6	1607	c.1608C>T	c.(1606-1608)tgC>tgT	p.C536C	AGAP2_ENST00000257897.3_Silent_p.C200C	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	536	G domain.				axon guidance (GO:0007411)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						TCATGTCCGCGCACAGAGCTC	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		19804	0.0		0.0	False		,,,				2504	0.001					ENST00000257897.3																			0				breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						c.(598-600)tgC>tgT		ArfGAP with GTPase domain, ankyrin repeat and PH domain 2							228.0	213.0	218.0					12																	58126704		2203	4300	6503	SO:0001819	synonymous_variant	116986				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr12:58126704G>A	AF413077	CCDS8951.1, CCDS44932.1	12q13.2	2013-05-30	2008-09-22	2008-09-22	ENSG00000135439	ENSG00000135439		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16921	protein-coding gene	gene with protein product		605476	"""centaurin, gamma 1"""	CENTG1			Standard	NM_001122772		Approved		uc001spq.3	Q99490	OTTHUMG00000170285	ENST00000547588.1:c.1608C>T	12.37:g.58126704G>A						AGAP2_ENST00000547588.1_Silent_p.C536C	p.C200C	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN			6	685	-			536			Interactions with HOMER1 and NF2 (By similarity).		A8K9F7|O00578|Q548E0|Q8IWU3	Silent	SNP	ENST00000547588.1	37	c.600C>T	CCDS44932.1	.	.	.	.	.	.	.	.	.	.	G	0.056	-1.236226	0.01505	.	.	ENSG00000135439	ENST00000328568	.	.	.	4.9	-9.8	0.00490	.	.	.	.	.	T	0.65344	0.2682	.	.	.	0.44587	D	0.997559	.	.	.	.	.	.	T	0.76575	-0.2909	4	.	.	.	.	19.7504	0.96265	0.3132:0.0:0.6868:0.0	.	.	.	.	C	400	.	.	R	-	1	0	AGAP2	56412971	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.256000	0.08757	-2.710000	0.00394	-1.686000	0.00732	CGC		0.567	AGAP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408367.1	NM_014770		7	364	0	0	0	0.004482	0	7	364				
FRMPD4	9758	broad.mit.edu	37	X	12735805	12735805	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chrX:12735805C>T	ENST00000380682.1	+	16	3366	c.2860C>T	c.(2860-2862)Ccg>Tcg	p.P954S		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	954					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GACCGAGTTCCCGGCCTCCAA	0.607																																						ENST00000380682.1																			0				breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						c.(2860-2862)Ccg>Tcg		FERM and PDZ domain containing 4							87.0	90.0	89.0					X																	12735805		2203	4300	6503	SO:0001583	missense	9758				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chrX:12735805C>T	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.2860C>T	X.37:g.12735805C>T	ENSP00000370057:p.Pro954Ser						p.P954S	NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN			16	3366	+			954					A8K0X9|O15032	Missense_Mutation	SNP	ENST00000380682.1	37	c.2860C>T	CCDS35201.1	.	.	.	.	.	.	.	.	.	.	C	1.550	-0.539591	0.04053	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.06608	3.28	5.87	5.01	0.66863	.	0.314940	0.35291	N	0.003310	T	0.05868	0.0153	L	0.42245	1.32	0.30408	N	0.779397	B;B	0.22146	0.065;0.065	B;B	0.16289	0.015;0.015	T	0.20940	-1.0260	10	0.16420	T	0.52	-11.4699	8.7166	0.34414	0.0:0.7684:0.0:0.2316	.	946;954	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	S	954;945;943	ENSP00000370057:P954S	ENSP00000304583:P943S	P	+	1	0	FRMPD4	12645726	0.266000	0.24112	0.826000	0.32828	0.027000	0.11550	1.011000	0.29911	1.244000	0.43870	0.600000	0.82982	CCG		0.607	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		7	248	0	0	0	0.001984	0	7	248				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			27	45	0	0	0	0.001786	0	27	45				
IL21R	50615	broad.mit.edu	37	16	27448929	27448929	+	Silent	SNP	C	C	T			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr16:27448929C>T	ENST00000337929.3	+	4	746	c.273C>T	c.(271-273)gaC>gaT	p.D91D	IL21R_ENST00000395755.1_Silent_p.D91D|IL21R_ENST00000395754.4_Silent_p.D91D|IL21R_ENST00000564089.1_Silent_p.D91D	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	91	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						TCATGGCCGACGACATTTTCA	0.572			T	BCL6	NHL																																	ENST00000337929.3				Dom	yes		16	16p11	50615	T	interleukin 21 receptor			L	BCL6		NHL		0				breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						c.(271-273)gaC>gaT		interleukin 21 receptor							172.0	129.0	144.0					16																	27448929		2197	4300	6497	SO:0001819	synonymous_variant	50615				natural killer cell activation	integral to membrane	interleukin-21 receptor activity	g.chr16:27448929C>T	AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"""Interleukins and interleukin receptors"", ""CD molecules"""	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.273C>T	16.37:g.27448929C>T						IL21R_ENST00000564089.1_Silent_p.D91D|IL21R_ENST00000395755.1_Silent_p.D91D|IL21R_ENST00000395754.4_Silent_p.D91D	p.D91D	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN			4	746	+			91					A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Silent	SNP	ENST00000337929.3	37	c.273C>T	CCDS10630.1																																																																																				0.572	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2	NM_181078		5	82	0	0	0	0.001168	0	5	82				
MMP15	4324	broad.mit.edu	37	16	58072238	58072238	+	Missense_Mutation	SNP	G	G	A	rs147283654		TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr16:58072238G>A	ENST00000219271.3	+	3	1165	c.380G>A	c.(379-381)cGg>cAg	p.R127Q		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	127					cellular protein modification process (GO:0006464)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)|response to estradiol (GO:0032355)	extracellular matrix (GO:0031012)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18					Marimastat(DB00786)	AACCTGCGGCGGCGTCGGAAG	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		20008	0.0		0.0	False		,,,				2504	0.001					ENST00000219271.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(379-381)cGg>cAg		matrix metallopeptidase 15 (membrane-inserted)		G	GLN/ARG	0,4396		0,0,2198	102.0	96.0	98.0		380	3.1	1.0	16	dbSNP_134	98	1,8599	1.2+/-3.3	0,1,4299	no	missense	MMP15	NM_002428.2	43	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	127/670	58072238	1,12995	2198	4300	6498	SO:0001583	missense	4324				protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding	g.chr16:58072238G>A	Z48482	CCDS10792.1	16q13	2008-05-14	2005-08-08		ENSG00000102996	ENSG00000102996			7161	protein-coding gene	gene with protein product		602261	"""matrix metalloproteinase 15 (membrane-inserted)"""			9070935, 9119382	Standard	NM_002428		Approved	MT2-MMP, MTMMP2, SMCP-2	uc002ena.3	P51511	OTTHUMG00000133466	ENST00000219271.3:c.380G>A	16.37:g.58072238G>A	ENSP00000219271:p.Arg127Gln						p.R127Q	NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN			3	1165	+			127					A0A2U6|Q14111	Missense_Mutation	SNP	ENST00000219271.3	37	c.380G>A	CCDS10792.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.646111	0.67358	0.0	1.16E-4	ENSG00000102996	ENST00000219271	T	0.17213	2.29	4.22	3.11	0.35812	Metallopeptidase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.22936	0.0554	L	0.38175	1.15	0.49299	D	0.999776	D	0.69078	0.997	D	0.67725	0.953	T	0.03017	-1.1082	10	0.12430	T	0.62	.	8.9742	0.35926	0.0:0.0:0.5688:0.4312	.	127	P51511	MMP15_HUMAN	Q	127	ENSP00000219271:R127Q	ENSP00000219271:R127Q	R	+	2	0	MMP15	56629739	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.416000	0.52707	2.096000	0.63516	0.462000	0.41574	CGG		0.647	MMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257342.1	NM_002428		48	130	0	0	0	0.003610	0	48	130				
RDX	5962	broad.mit.edu	37	11	110104176	110104176	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr11:110104176T>C	ENST00000343115.4	-	13	1692	c.1373A>G	c.(1372-1374)aAg>aGg	p.K458R	RDX_ENST00000528498.1_Missense_Mutation_p.K458R|RDX_ENST00000544551.1_Missense_Mutation_p.K322R|RDX_ENST00000530301.1_Intron|RDX_ENST00000405097.1_Missense_Mutation_p.K458R|RDX_ENST00000528900.1_Missense_Mutation_p.K111R	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	458	Glu-rich.				actin filament capping (GO:0051693)|apical protein localization (GO:0045176)|establishment of endothelial barrier (GO:0061028)|microvillus assembly (GO:0030033)|positive regulation of gene expression (GO:0010628)	apical part of cell (GO:0045177)|cell tip (GO:0051286)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|stereocilium (GO:0032420)|T-tubule (GO:0030315)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		TTCTTTGGTCTTTTCCAAGTC	0.403																																					Esophageal Squamous(55;25 1062 11040 28755 44273)	ENST00000343115.4																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18						c.(1372-1374)aAg>aGg		radixin							80.0	79.0	79.0					11																	110104176		2201	4298	6499	SO:0001583	missense	5962				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding	g.chr11:110104176T>C	BC020751	CCDS8343.1, CCDS58171.1, CCDS58172.1, CCDS58173.1, CCDS58174.1	11q23	2008-03-17				ENSG00000137710			9944	protein-coding gene	gene with protein product		179410	"""deafness, autosomal recessive 24"""	DFNB24		8486357, 17226784	Standard	NM_001260492		Approved		uc031qdy.1	P35241		ENST00000343115.4:c.1373A>G	11.37:g.110104176T>C	ENSP00000342830:p.Lys458Arg					RDX_ENST00000405097.1_Missense_Mutation_p.K458R|RDX_ENST00000528498.1_Missense_Mutation_p.K458R|RDX_ENST00000544551.1_Missense_Mutation_p.K322R|RDX_ENST00000528900.1_Missense_Mutation_p.K111R|RDX_ENST00000530301.1_Intron	p.K458R	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)	13	1692	-		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	458			Glu-rich.		A7YIJ8|A7YIK0|A7YIK3|B7Z9U6|F5H1A7|Q86Y61	Missense_Mutation	SNP	ENST00000343115.4	37	c.1373A>G	CCDS8343.1	.	.	.	.	.	.	.	.	.	.	T	14.29	2.492278	0.44352	.	.	ENSG00000137710	ENST00000528498;ENST00000405097;ENST00000528900;ENST00000343115;ENST00000544551;ENST00000530085	D;D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63;-1.63	6.01	6.01	0.97437	Ezrin/radixin/moesin, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.86443	0.5934	L	0.48642	1.525	0.58432	D	0.999999	B;B;B;D	0.69078	0.018;0.325;0.175;0.997	B;B;B;D	0.80764	0.073;0.198;0.107;0.994	T	0.81803	-0.0765	10	0.06099	T	0.92	.	16.5285	0.84344	0.0:0.0:0.0:1.0	.	322;458;458;111	F5H1A7;A7YIJ8;P35241;A7YIK3	.;.;RADI_HUMAN;.	R	458;458;111;458;322;128	ENSP00000432112:K458R;ENSP00000384136:K458R;ENSP00000433580:K111R;ENSP00000342830:K458R;ENSP00000445826:K322R;ENSP00000434788:K128R	ENSP00000342830:K458R	K	-	2	0	RDX	109609386	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.914000	0.69964	2.307000	0.77673	0.528000	0.53228	AAG		0.403	RDX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390535.2	NM_002906		3	129	0	0	0	0.004672	0	3	129				
MGAM	8972	broad.mit.edu	37	7	141799485	141799485	+	Missense_Mutation	SNP	C	C	T	rs372412602	byFrequency	TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr7:141799485C>T	ENST00000549489.2	+	44	5229	c.5134C>T	c.(5134-5136)Cgt>Tgt	p.R1712C	MGAM_ENST00000475668.2_Missense_Mutation_p.R2608C	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1712	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCTTCATGTCCGTGGGGGCTA	0.498													C|||	3	0.000599042	0.0	0.0	5008	,	,		18479	0.003		0.0	False		,,,				2504	0.0					ENST00000475668.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(7822-7824)Cgt>Tgt		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	C	CYS/ARG	0,3756		0,0,1878	63.0	62.0	62.0		5134	3.9	1.0	7		62	1,8199		0,1,4099	no	missense	MGAM	NM_004668.2	180	0,1,5977	TT,TC,CC		0.0122,0.0,0.0084	probably-damaging	1712/1858	141799485	1,11955	1878	4100	5978	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141799485C>T	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.5134C>T	7.37:g.141799485C>T	ENSP00000447378:p.Arg1712Cys					MGAM_ENST00000549489.2_Missense_Mutation_p.R1712C	p.R2608C			O43451	MGA_HUMAN			67	7876	+	Melanoma(164;0.0272)		1712					Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.7822C>T	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.741479	0.69304	0.0	1.22E-4	ENSG00000257335	ENST00000549489;ENST00000475668	D	0.89196	-2.48	5.74	3.93	0.45458	.	.	.	.	.	D	0.94611	0.8263	H	0.95004	3.61	0.40393	D	0.979561	D	0.76494	0.999	D	0.63113	0.911	D	0.93871	0.7162	9	0.66056	D	0.02	.	7.9478	0.29998	0.2842:0.6414:0.0:0.0744	.	1712	O43451	MGA_HUMAN	C	1712;2609	ENSP00000447378:R1712C	ENSP00000373973:R1712C	R	+	1	0	MGAM	141445954	0.945000	0.32115	0.964000	0.40570	0.996000	0.88848	1.016000	0.29976	0.762000	0.33152	0.591000	0.81541	CGT		0.498	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			8	87	0	0	0	0.003080	0	8	87				
DDX11	1663	broad.mit.edu	37	12	31244796	31244796	+	Silent	SNP	C	C	T			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr12:31244796C>T	ENST00000407793.2	+	10	1484	c.1233C>T	c.(1231-1233)agC>agT	p.S411S	DDX11_ENST00000545668.1_Silent_p.S411S|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000228264.6_Silent_p.S385S|DDX11_ENST00000350437.4_Silent_p.S411S|DDX11_ENST00000542838.1_Silent_p.S411S	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	411	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TGGAGGTCAGCGGCTCCCAGG	0.662										Multiple Myeloma(12;0.14)																												ENST00000407793.2																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57						c.(1231-1233)agC>agT		DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11							47.0	49.0	48.0					12																	31244796		2203	4298	6501	SO:0001819	synonymous_variant	1663				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding	g.chr12:31244796C>T	U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.1233C>T	12.37:g.31244796C>T		Multiple Myeloma(12;0.14)				DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000542838.1_Silent_p.S411S|DDX11_ENST00000228264.6_Silent_p.S385S|DDX11_ENST00000350437.4_Silent_p.S411S|DDX11_ENST00000545668.1_Silent_p.S411S	p.S411S	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN			10	1484	+	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)		411			Helicase ATP-binding.		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Silent	SNP	ENST00000407793.2	37	c.1233C>T	CCDS44856.1																																																																																				0.662	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653		4	106	0	0	0	0.000602	0	4	106				
TET3	200424	broad.mit.edu	37	2	74300737	74300737	+	Silent	SNP	C	C	T	rs551114738		TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr2:74300737C>T	ENST00000409262.3	+	2	2151	c.2151C>T	c.(2149-2151)gtC>gtT	p.V717V		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	717					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCCCCACGGTCGCCTCTATCC	0.448																																						ENST00000409262.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(2149-2151)gtC>gtT		tet methylcytosine dioxygenase 3							43.0	47.0	45.0					2																	74300737		1854	4097	5951	SO:0001819	synonymous_variant	200424						metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:74300737C>T		CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.2151C>T	2.37:g.74300737C>T							p.V717V	NM_144993.1	NP_659430.1	O43151	TET3_HUMAN			2	2151	+			717					A6NEI3|Q86Z24|Q8TBM9	Silent	SNP	ENST00000409262.3	37	c.2151C>T	CCDS46339.1																																																																																				0.448	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4			3	27	0	0	0	0.000248	0	3	27				
YTHDC1	91746	broad.mit.edu	37	4	69179953	69179953	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr4:69179953C>T	ENST00000344157.4	-	17	2383	c.2048G>A	c.(2047-2049)cGg>cAg	p.R683Q	YTHDC1_ENST00000355665.3_Missense_Mutation_p.R665Q|YTHDC1_ENST00000579690.1_Missense_Mutation_p.R691Q	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	683	Arg-rich.				mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						ctctcgttcccggtctctttc	0.493																																						ENST00000344157.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						c.(2047-2049)cGg>cAg		YTH domain containing 1							87.0	75.0	79.0					4																	69179953		2203	4300	6503	SO:0001583	missense	91746							g.chr4:69179953C>T	AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.2048G>A	4.37:g.69179953C>T	ENSP00000339245:p.Arg683Gln					YTHDC1_ENST00000579690.1_Missense_Mutation_p.R691Q|YTHDC1_ENST00000355665.3_Missense_Mutation_p.R665Q	p.R683Q	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN			17	2383	-			683			Arg-rich.		Q4W5Q3|Q7Z622|Q8TF35	Missense_Mutation	SNP	ENST00000344157.4	37	c.2048G>A	CCDS33992.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.096850	0.76870	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	T;T	0.32988	1.44;1.43	5.41	5.41	0.78517	.	0.054973	0.64402	D	0.000001	T	0.34250	0.0891	L	0.29908	0.895	0.58432	D	0.999999	D;D	0.69078	0.997;0.995	P;P	0.51079	0.658;0.457	T	0.02070	-1.1219	10	0.27082	T	0.32	.	18.8065	0.92040	0.0:1.0:0.0:0.0	.	665;683	Q96MU7-2;Q96MU7	.;YTDC1_HUMAN	Q	683;665	ENSP00000339245:R683Q;ENSP00000347888:R665Q	ENSP00000339245:R683Q	R	-	2	0	YTHDC1	68862548	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.830000	0.75319	2.543000	0.85770	0.467000	0.42956	CGG		0.493	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251437.1	NM_133370		15	21	0	0	0	0.002450	0	15	21				
LILRB4	11006	broad.mit.edu	37	19	55179342	55179342	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr19:55179342C>T	ENST00000391736.1	+	14	1534	c.1219C>T	c.(1219-1221)Ccc>Tcc	p.P407S	LILRB4_ENST00000391733.3_Missense_Mutation_p.P408S|LILRB4_ENST00000430952.2_Missense_Mutation_p.P406S|LILRB4_ENST00000391734.3_Missense_Mutation_p.P354S|LILRB4_ENST00000270452.2_Missense_Mutation_p.P407S	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	407					immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.P407S(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		ATCTGAAGCCCCCCAGGATGT	0.647																																						ENST00000391736.1																			1	Substitution - Missense(1)	p.P407S(1)	lung(1)	breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39						c.(1219-1221)Ccc>Tcc		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4							62.0	67.0	66.0					19																	55179342		2203	4300	6503	SO:0001583	missense	0					integral to membrane|plasma membrane	antigen binding|receptor activity	g.chr19:55179342C>T	U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.1219C>T	19.37:g.55179342C>T	ENSP00000375616:p.Pro407Ser					LILRB4_ENST00000270452.2_Missense_Mutation_p.P407S|LILRB4_ENST00000430952.2_Missense_Mutation_p.P406S|LILRB4_ENST00000391733.3_Missense_Mutation_p.P408S|LILRB4_ENST00000391734.3_Missense_Mutation_p.P354S	p.P407S	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN		GBM - Glioblastoma multiforme(193;0.035)	14	1534	+			407					A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Missense_Mutation	SNP	ENST00000391736.1	37	c.1219C>T	CCDS12902.1	.	.	.	.	.	.	.	.	.	.	C	11.16	1.556618	0.27827	.	.	ENSG00000186818	ENST00000391736;ENST00000270452;ENST00000430952;ENST00000391734;ENST00000391733	T;T;T;T;T	0.00505	7.11;7.11;7.11;6.93;7.12	2.07	2.07	0.26955	.	.	.	.	.	T	0.00906	0.0030	L	0.48935	1.535	0.20764	N	0.999854	D;D;B;B	0.76494	0.999;0.999;0.007;0.001	D;D;B;B	0.76575	0.972;0.988;0.01;0.001	T	0.57946	-0.7723	9	0.22706	T	0.39	.	7.5752	0.27931	0.0:1.0:0.0:0.0	.	354;408;406;407	A8MUE1;Q8NHJ6-3;Q8NHJ6-2;Q8NHJ6	.;.;.;LIRB4_HUMAN	S	407;407;406;354;408	ENSP00000375616:P407S;ENSP00000270452:P407S;ENSP00000408995:P406S;ENSP00000375614:P354S;ENSP00000375613:P408S	ENSP00000270452:P407S	P	+	1	0	LILRB4	59871154	0.007000	0.16637	0.721000	0.30653	0.421000	0.31385	0.250000	0.18235	1.166000	0.42689	0.407000	0.27541	CCC		0.647	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141127.3			4	105	0	0	0	0.000248	0	4	105				
TUBB8P7	197331	broad.mit.edu	37	16	90161571	90161571	+	RNA	SNP	A	A	G	rs376229952		TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr16:90161571A>G	ENST00000564451.1	+	0	924				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		CAACTGGGCCAAGGGACGCTA	0.577																																						ENST00000564451.1																			0																																																			0							g.chr16:90161571A>G			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161571A>G						TUBB8P7_ENST00000567960.1_RNA								0	924	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.577	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		3	38	0	0	0	0.004672	0	3	38				
SYNGAP1	8831	broad.mit.edu	37	6	33405883	33405883	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr6:33405883C>T	ENST00000418600.2	+	8	1302	c.1201C>T	c.(1201-1203)Cgg>Tgg	p.R401W	SYNGAP1_ENST00000293748.5_Missense_Mutation_p.R401W|SYNGAP1_ENST00000496374.1_3'UTR|MIR5004_ENST00000579078.1_RNA|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.R342W	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	401					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CCCGGCTGTGCGGCTGAAAGC	0.592																																						ENST00000418600.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						c.(1201-1203)Cgg>Tgg		synaptic Ras GTPase activating protein 1							99.0	105.0	103.0					6																	33405883		2202	4299	6501	SO:0001583	missense	8831				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33405883C>T	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"""synaptic Ras GTPase activating protein 1 homolog (rat)"""			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.1201C>T	6.37:g.33405883C>T	ENSP00000403636:p.Arg401Trp					SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.R342W|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.R401W	p.R401W	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN			8	1302	+			401					A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	ENST00000418600.2	37	c.1201C>T	CCDS34434.2	.	.	.	.	.	.	.	.	.	.	C	17.31	3.357316	0.61293	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	D;D;D	0.81659	-1.52;-1.52;-1.52	4.68	0.62	0.17637	Ras GTPase-activating protein (1);	0.000000	0.64402	D	0.000001	D	0.82522	0.5055	M	0.78916	2.43	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.993;0.997;0.997;1.0	T	0.81373	-0.0962	10	0.87932	D	0	.	7.0403	0.25017	0.4142:0.5022:0.0:0.0835	.	401;401;401;401	Q96PV0;Q96PV0-2;Q96PV0-4;B7ZCA0	SYGP1_HUMAN;.;.;.	W	401;401;401;342	ENSP00000293748:R401W;ENSP00000403636:R401W;ENSP00000412475:R342W	ENSP00000293748:R401W	R	+	1	2	SYNGAP1	33513861	0.997000	0.39634	0.923000	0.36655	0.955000	0.61496	3.140000	0.50585	-0.088000	0.12506	0.650000	0.86243	CGG		0.592	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		22	163	0	0	0	0.003330	0	22	163				
CDH23	64072	broad.mit.edu	37	10	73453969	73453969	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr10:73453969G>A	ENST00000224721.6	+	20	2262	c.2257G>A	c.(2257-2259)Gca>Aca	p.A753T	CDH23_ENST00000299366.7_Missense_Mutation_p.A793T	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	748	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CATCGTTCGCGCAGTGGACGG	0.627																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(2257-2259)Gca>Aca		cadherin-related 23							66.0	82.0	77.0					10																	73453969		2081	4202	6283	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73453969G>A	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.2257G>A	10.37:g.73453969G>A	ENSP00000224721:p.Ala753Thr					CDH23_ENST00000299366.7_Missense_Mutation_p.A793T	p.A753T	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			20	2262	+			748			Cadherin 7.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.2257G>A		.	.	.	.	.	.	.	.	.	.	G	27.3	4.822041	0.90873	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000398828;ENST00000299366;ENST00000224721;ENST00000442677	.	.	.	5.55	5.55	0.83447	Cadherin (4);Cadherin-like (1);	0.068139	0.56097	N	0.000021	D	0.91085	0.7194	H	0.98559	4.265	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.995;0.998;0.977	D	0.94246	0.7489	9	0.87932	D	0	.	19.5163	0.95167	0.0:0.0:1.0:0.0	.	748;751;748	Q6P152;G3XCN8;Q9H251	.;.;CAD23_HUMAN	T	753;748;748;751;751;265	.	ENSP00000224721:A753T	A	+	1	0	CDH23	73123975	1.000000	0.71417	0.388000	0.26195	0.281000	0.26958	9.827000	0.99397	2.621000	0.88768	0.643000	0.83706	GCA		0.627	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		10	38	0	0	0	0.008291	0	10	38				
C11orf63	79864	broad.mit.edu	37	11	122774732	122774732	+	Silent	SNP	G	G	A			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr11:122774732G>A	ENST00000531316.1	+	2	536	c.444G>A	c.(442-444)ccG>ccA	p.P148P	C11orf63_ENST00000307257.6_Silent_p.P148P|C11orf63_ENST00000227349.2_Silent_p.P148P			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	148					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		AAGCGTTGCCGGAGTCCACGG	0.532																																						ENST00000227349.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(442-444)ccG>ccA		chromosome 11 open reading frame 63							93.0	104.0	100.0					11																	122774732		2202	4299	6501	SO:0001819	synonymous_variant	79864							g.chr11:122774732G>A	BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.444G>A	11.37:g.122774732G>A						C11orf63_ENST00000307257.6_Silent_p.P148P|C11orf63_ENST00000531316.1_Silent_p.P148P	p.P148P	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)	3	741	+		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	148					A8K6G0|Q96GB5|Q9H5D6	Silent	SNP	ENST00000531316.1	37	c.444G>A	CCDS8438.1																																																																																				0.532	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387511.1	NM_024806		62	117	0	0	0	0.003610	0	62	117				
DGKK	139189	broad.mit.edu	37	X	50213438	50213438	+	RNA	SNP	T	T	C			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chrX:50213438T>C	ENST00000376025.2	-	0	299							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					ctggggtcggTTCTGTGTACA	0.647																																						ENST00000376025.2																			0				central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45								diacylglycerol kinase, kappa							73.0	86.0	82.0					X																	50213438		1905	4097	6002			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50213438T>C	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50213438T>C										Q5KSL6	DGKK_HUMAN			0	299	-	Ovarian(276;0.236)							B2RP91	RNA	SNP	ENST00000376025.2	37																																																																																						0.647	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		17	347	0	0	0	0.007413	0	17	347				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		3	76	0	0	0	0.004672	0	3	76				
TUBB8P7	197331	broad.mit.edu	37	16	90161609	90161609	+	RNA	SNP	A	A	G	rs371305733		TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr16:90161609A>G	ENST00000564451.1	+	0	962				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		TGATGGAGTCAGTGATGGACG	0.617																																						ENST00000564451.1																			0																																																			0							g.chr16:90161609A>G			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161609A>G						TUBB8P7_ENST00000567960.1_RNA								0	962	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.617	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		3	39	0	0	0	0.004672	0	3	39				
STAU1	6780	broad.mit.edu	37	20	47732387	47732387	+	Silent	SNP	T	T	C			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr20:47732387T>C	ENST00000371856.2	-	13	2060	c.1650A>G	c.(1648-1650)ttA>ttG	p.L550L	STAU1_ENST00000340954.7_Silent_p.L469L|STAU1_ENST00000371828.3_Silent_p.L475L|STAU1_ENST00000347458.5_Silent_p.L469L|STAU1_ENST00000371802.1_Silent_p.L475L|STAU1_ENST00000371792.1_Silent_p.L467L|STAU1_ENST00000360426.4_Silent_p.L469L	NM_017453.2	NP_059347.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	550					intracellular mRNA localization (GO:0008298)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|rough endoplasmic reticulum (GO:0005791)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			ACAGCAACTTTAAGATGTTCA	0.512																																						ENST00000371828.3																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1423-1425)ttA>ttG		staufen double-stranded RNA binding protein 1							210.0	177.0	188.0					20																	47732387		2203	4300	6503	SO:0001819	synonymous_variant	6780					microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding	g.chr20:47732387T>C		CCDS13414.1, CCDS13415.1, CCDS33481.1	20q13.1	2014-06-13	2013-06-05	2005-11-04	ENSG00000124214	ENSG00000124214			11370	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 150"""	601716	"""staufen (Drosophila, RNA-binding protein)"", ""staufen, RNA binding protein (Drosophila)"", ""staufen, RNA binding protein, homolog 1 (Drosophila)"""	STAU		8884277, 15680326	Standard	XM_005260524		Approved	PPP1R150	uc002xud.3	O95793	OTTHUMG00000032691	ENST00000371856.2:c.1650A>G	20.37:g.47732387T>C						STAU1_ENST00000340954.7_Silent_p.L469L|STAU1_ENST00000360426.4_Silent_p.L469L|STAU1_ENST00000371802.1_Silent_p.L475L|STAU1_ENST00000371792.1_Silent_p.L467L|STAU1_ENST00000347458.5_Silent_p.L469L|STAU1_ENST00000371856.2_Silent_p.L550L	p.L475L	NM_001037328.1|NM_004602.2	NP_001032405.1|NP_004593.2	O95793	STAU1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)		13	1912	-			550					A8K9Z4|E1P5Y1|E1P608|Q5JW29|Q6GTM4|Q9H5B4|Q9H5B5|Q9Y3Q2	Silent	SNP	ENST00000371856.2	37	c.1425A>G	CCDS13414.1																																																																																				0.512	STAU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079633.1	NM_017453		10	217	0	0	0	0.008291	0	10	217				
MBD5	55777	broad.mit.edu	37	2	149241058	149241058	+	Intron	SNP	C	C	T			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr2:149241058C>T	ENST00000407073.1	+	10	3842				MBD5_ENST00000404807.1_Silent_p.N966N	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5						glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CGAATGTAAACGCTGCTTTAG	0.473																																						ENST00000404807.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62						c.(2896-2898)aaC>aaT		methyl-CpG binding domain protein 5																																				SO:0001627	intron_variant	0					chromosome|nucleus	chromatin binding|DNA binding	g.chr2:149241058C>T	AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.2845+53C>T	2.37:g.149241058C>T						MBD5_ENST00000407073.1_Intron	p.N966N			Q9P267	MBD5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0569)	5	3027	+			971					A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Silent	SNP	ENST00000407073.1	37	c.2898C>T	CCDS33302.1	.	.	.	.	.	.	.	.	.	.	C	2.591	-0.295122	0.05532	.	.	ENSG00000204406	ENST00000416015	.	.	.	5.95	4.16	0.48862	.	.	.	.	.	T	0.59376	0.2189	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55205	-0.8177	4	.	.	.	-4.5965	9.2379	0.37477	0.0:0.731:0.0:0.269	.	.	.	.	M	706	.	.	T	+	2	0	MBD5	148957528	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.845000	0.27668	0.858000	0.35431	0.563000	0.77884	ACG		0.473	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			9	43	0	0	0	0.004482	0	9	43				
SLC22A8	9376	broad.mit.edu	37	11	62763251	62763251	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr11:62763251T>C	ENST00000336232.2	-	7	1061	c.926A>G	c.(925-927)aAg>aGg	p.K309R	SLC22A8_ENST00000542795.1_5'Flank|SLC22A8_ENST00000545207.1_Missense_Mutation_p.K218R|SLC22A8_ENST00000535878.1_Missense_Mutation_p.K186R|SLC22A8_ENST00000430500.2_Missense_Mutation_p.K309R|SLC22A8_ENST00000311438.8_Missense_Mutation_p.K309R	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	309					glutathione transport (GO:0034635)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|quaternary ammonium group transmembrane transporter activity (GO:0015651)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Aspartame(DB00168)|Baclofen(DB00181)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Cilastatin(DB01597)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Estradiol(DB00783)|Famotidine(DB00927)|Furosemide(DB00695)|Ganciclovir(DB01004)|Guanidine(DB00536)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|L-Carnitine(DB00583)|Liothyronine(DB00279)|Liotrix(DB01583)|Melatonin(DB01065)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Minocycline(DB01017)|Novobiocin(DB01051)|Oseltamivir(DB00198)|Ouabain(DB01092)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Ranitidine(DB00863)|Salicylic acid(DB00936)|Saxagliptin(DB06335)|Succinic acid(DB00139)|Tenofovir(DB00300)|Tenoxicam(DB00469)|Testosterone(DB00624)|Tetracycline(DB00759)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Zidovudine(DB00495)	GTACTTGGCCTTGGCCAAGGA	0.597																																						ENST00000336232.2																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						c.(925-927)aAg>aGg		solute carrier family 22 (organic anion transporter), member 8							164.0	151.0	155.0					11																	62763251		2201	4298	6499	SO:0001583	missense	9376				response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity	g.chr11:62763251T>C	AF097491, BC022387	CCDS8042.1, CCDS53643.1, CCDS53644.1	11q12.3	2013-05-22			ENSG00000149452	ENSG00000149452		"""Solute carriers"""	10972	protein-coding gene	gene with protein product		607581				10049739	Standard	NM_004254		Approved	OAT3	uc001nwo.3	Q8TCC7	OTTHUMG00000167768	ENST00000336232.2:c.926A>G	11.37:g.62763251T>C	ENSP00000337335:p.Lys309Arg					SLC22A8_ENST00000311438.8_Missense_Mutation_p.K309R|SLC22A8_ENST00000430500.2_Missense_Mutation_p.K309R|SLC22A8_ENST00000545207.1_Missense_Mutation_p.K218R|SLC22A8_ENST00000535878.1_Missense_Mutation_p.K186R	p.K309R	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN			7	1061	-			309					B4DPH7|F5GWA8|F5H5J1|O95820|Q59EW9|Q96TC1	Missense_Mutation	SNP	ENST00000336232.2	37	c.926A>G	CCDS8042.1	.	.	.	.	.	.	.	.	.	.	T	16.14	3.038211	0.54896	.	.	ENSG00000149452	ENST00000336232;ENST00000540631;ENST00000545207;ENST00000535878;ENST00000311438;ENST00000430500	T;T;T;T;T	0.59224	0.28;0.28;0.28;0.28;0.28	5.07	5.07	0.68467	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.858758	0.09946	N	0.735274	T	0.60573	0.2279	M	0.62723	1.935	0.35580	D	0.806195	P;P	0.36171	0.485;0.541	B;B	0.42214	0.261;0.38	T	0.60214	-0.7307	10	0.26408	T	0.33	.	11.2452	0.48993	0.0:0.0:0.0:1.0	.	309;309	Q8TCC7-2;Q8TCC7	.;S22A8_HUMAN	R	309;295;218;186;309;309	ENSP00000337335:K309R;ENSP00000441658:K218R;ENSP00000443368:K186R;ENSP00000311463:K309R;ENSP00000398548:K309R	ENSP00000311463:K309R	K	-	2	0	SLC22A8	62519827	0.998000	0.40836	1.000000	0.80357	0.839000	0.47603	3.141000	0.50593	1.898000	0.54952	0.374000	0.22700	AAG		0.597	SLC22A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396191.1	NM_004254		77	155	0	0	0	0.003610	0	77	155				
PSKH1	5681	broad.mit.edu	37	16	67961376	67961376	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr16:67961376G>A	ENST00000291041.5	+	3	1276	c.1106G>A	c.(1105-1107)cGc>cAc	p.R369H		NM_006742.2	NP_006733.1	P11801	KPSH1_HUMAN	protein serine kinase H1	369						cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(2)|large_intestine(1)|lung(7)|pancreas(1)	12		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)		AACCTGCACCGCTCCATATCC	0.607																																						ENST00000291041.5																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(7)|pancreas(1)	12						c.(1105-1107)cGc>cAc		protein serine kinase H1							99.0	86.0	91.0					16																	67961376		2198	4300	6498	SO:0001583	missense	5681					endoplasmic reticulum membrane|Golgi apparatus|microtubule organizing center|nuclear speck|plasma membrane	ATP binding|protein serine/threonine kinase activity	g.chr16:67961376G>A	M14504	CCDS10851.1	16q22.1	2008-02-05			ENSG00000159792	ENSG00000159792			9529	protein-coding gene	gene with protein product		177015				8268911	Standard	NM_006742		Approved		uc002euv.3	P11801	OTTHUMG00000137548	ENST00000291041.5:c.1106G>A	16.37:g.67961376G>A	ENSP00000291041:p.Arg369His						p.R369H	NM_006742.2	NP_006733.1	P11801	KPSH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)	3	1276	+		Ovarian(137;0.192)	369					Q9NY19	Missense_Mutation	SNP	ENST00000291041.5	37	c.1106G>A	CCDS10851.1	.	.	.	.	.	.	.	.	.	.	G	36	5.913319	0.97099	.	.	ENSG00000159792	ENST00000291041	T	0.39592	1.07	5.19	5.19	0.71726	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.59985	0.2234	M	0.70275	2.135	0.80722	D	1	D	0.63046	0.992	P	0.56474	0.799	T	0.62651	-0.6809	10	0.54805	T	0.06	-11.2996	18.688	0.91573	0.0:0.0:1.0:0.0	.	369	P11801	KPSH1_HUMAN	H	369	ENSP00000291041:R369H	ENSP00000291041:R369H	R	+	2	0	PSKH1	66518877	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.420000	0.97426	2.578000	0.87016	0.655000	0.94253	CGC		0.607	PSKH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268882.3	NM_006742		48	83	0	0	0	0.003610	0	48	83				
SYNE1	23345	broad.mit.edu	37	6	152831491	152831491	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr6:152831491T>C	ENST00000367255.5	-	8	1019	c.418A>G	c.(418-420)Agc>Ggc	p.S140G	SYNE1_ENST00000423061.1_Missense_Mutation_p.S147G|SYNE1_ENST00000466159.2_Missense_Mutation_p.S140G|SYNE1_ENST00000265368.4_Missense_Mutation_p.S140G|SYNE1_ENST00000341594.5_Missense_Mutation_p.S140G|SYNE1_ENST00000367253.4_Missense_Mutation_p.S140G|SYNE1_ENST00000367248.3_Missense_Mutation_p.S147G|SYNE1_ENST00000448038.1_Missense_Mutation_p.S147G|SYNE1_ENST00000413186.2_Missense_Mutation_p.S140G	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	140	Actin-binding.				cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGCAGGTTGCTGGTCAACTCT	0.448										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(418-420)Agc>Ggc		spectrin repeat containing, nuclear envelope 1							81.0	71.0	75.0					6																	152831491		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152831491T>C	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.418A>G	6.37:g.152831491T>C	ENSP00000356224:p.Ser140Gly	HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Missense_Mutation_p.S147G|SYNE1_ENST00000367253.4_Missense_Mutation_p.S140G|SYNE1_ENST00000341594.5_Missense_Mutation_p.S140G|SYNE1_ENST00000265368.4_Missense_Mutation_p.S140G|SYNE1_ENST00000367248.3_Missense_Mutation_p.S147G|SYNE1_ENST00000466159.2_Missense_Mutation_p.S140G|SYNE1_ENST00000423061.1_Missense_Mutation_p.S147G|SYNE1_ENST00000413186.2_Missense_Mutation_p.S140G	p.S140G	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	8	1019	-		Ovarian(120;0.0955)	140			Actin-binding.		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.418A>G	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	27.1	4.801117	0.90538	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000466159;ENST00000537750	D;D;D;D;D;D;D;D;D;D	0.95588	-3.75;-3.75;-3.75;-3.75;-3.75;-3.75;-3.75;-3.75;-3.75;-3.75	5.66	5.66	0.87406	Calponin homology domain (1);	0.000000	0.85682	D	0.000000	D	0.95862	0.8653	L	0.45581	1.43	0.80722	D	1	D;D;D;D;D	0.76494	0.995;0.996;0.982;0.996;0.999	D;P;P;P;D	0.69142	0.962;0.87;0.816;0.87;0.958	D	0.96273	0.9200	10	0.54805	T	0.06	.	15.8952	0.79329	0.0:0.0:0.0:1.0	.	140;140;140;140;147	B3W695;Q8NF91;F5H4Q0;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	G	140;147;140;147;140;140;147;140;140;140	ENSP00000356224:S140G;ENSP00000396024:S147G;ENSP00000265368:S140G;ENSP00000390975:S147G;ENSP00000341887:S140G;ENSP00000356222:S140G;ENSP00000356217:S147G;ENSP00000414510:S140G;ENSP00000446021:S140G;ENSP00000441264:S140G	ENSP00000265368:S140G	S	-	1	0	SYNE1	152873184	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.040000	0.89188	2.166000	0.68216	0.519000	0.50382	AGC		0.448	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		32	43	0	0	0	0.002836	0	32	43				
SI	6476	broad.mit.edu	37	3	164767582	164767582	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr3:164767582G>A	ENST00000264382.3	-	14	1656	c.1594C>T	c.(1594-1596)Cct>Tct	p.P532S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	532	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	ATTTTACCAGGAGTAAACGGT	0.264										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(1594-1596)Cct>Tct		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						82.0	91.0	88.0					3																	164767582		2203	4287	6490	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164767582G>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.1594C>T	3.37:g.164767582G>A	ENSP00000264382:p.Pro532Ser	HNSCC(35;0.089)					p.P532S	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			14	1656	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	532			Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.1594C>T	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	19.72	3.880810	0.72294	.	.	ENSG00000090402	ENST00000264382	D	0.90504	-2.68	5.58	5.58	0.84498	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.96836	0.8967	H	0.95043	3.615	0.58432	D	0.999996	D	0.76494	0.999	D	0.69479	0.964	D	0.97766	1.0223	10	0.87932	D	0	.	18.5615	0.91101	0.0:0.0:1.0:0.0	.	532	P14410	SUIS_HUMAN	S	532	ENSP00000264382:P532S	ENSP00000264382:P532S	P	-	1	0	SI	166250276	1.000000	0.71417	0.994000	0.49952	0.458000	0.32498	9.114000	0.94329	2.622000	0.88805	0.585000	0.79938	CCT		0.264	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		16	56	0	0	0	0.006122	0	16	56				
SYTL2	54843	broad.mit.edu	37	11	85420400	85420400	+	Silent	SNP	C	C	T	rs202024537		TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr11:85420400C>T	ENST00000528231.1	-	12	2251	c.1974G>A	c.(1972-1974)gcG>gcA	p.A658A	SYTL2_ENST00000533892.1_Silent_p.A60A|SYTL2_ENST00000389958.3_Silent_p.A89A|SYTL2_ENST00000359152.5_Silent_p.A1504A|SYTL2_ENST00000525702.1_Silent_p.A100A|SYTL2_ENST00000527523.1_Silent_p.A626A|SYTL2_ENST00000316356.4_Silent_p.A659A|SYTL2_ENST00000354566.3_Silent_p.A996A|SYTL2_ENST00000525423.1_Silent_p.A980A|SYTL2_ENST00000529581.1_Silent_p.A100A|SYTL2_ENST00000389960.4_Silent_p.A634A|SYTL2_ENST00000524452.1_Silent_p.A634A	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	658	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.			A -> V (in Ref. 4; BAD18516). {ECO:0000305}.	exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TTTTTACATCCGCTGCTGCTA	0.398													C|||	1	0.000199681	0.0	0.0	5008	,	,		17199	0.001		0.0	False		,,,				2504	0.0					ENST00000359152.5																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(4510-4512)gcG>gcA		synaptotagmin-like 2							128.0	128.0	128.0					11																	85420400		2203	4299	6502	SO:0001819	synonymous_variant	54843				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	g.chr11:85420400C>T	AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1974G>A	11.37:g.85420400C>T						SYTL2_ENST00000389958.3_Silent_p.A89A|SYTL2_ENST00000354566.3_Silent_p.A996A|SYTL2_ENST00000525702.1_Silent_p.A100A|SYTL2_ENST00000528231.1_Silent_p.A658A|SYTL2_ENST00000527523.1_Silent_p.A626A|SYTL2_ENST00000524452.1_Silent_p.A634A|SYTL2_ENST00000389960.4_Silent_p.A634A|SYTL2_ENST00000529581.1_Silent_p.A100A|SYTL2_ENST00000316356.4_Silent_p.A659A|SYTL2_ENST00000525423.1_Silent_p.A980A|SYTL2_ENST00000533892.1_Silent_p.A60A	p.A1504A	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)	6	4511	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	658					B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Silent	SNP	ENST00000528231.1	37	c.4512G>A	CCDS53688.1																																																																																				0.398	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		49	121	0	0	0	0.003610	0	49	121				
POTEC	388468	broad.mit.edu	37	18	14513675	14513675	+	Missense_Mutation	SNP	T	T	C	rs371810308	byFrequency	TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr18:14513675T>C	ENST00000358970.5	-	10	1518	c.1519A>G	c.(1519-1521)Aaa>Gaa	p.K507E		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	507								p.K507E(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GAATTCATTTTCTTTTCAGCC	0.284													.|||	3	0.000599042	0.0	0.0	5008	,	,		16953	0.003		0.0	False		,,,				2504	0.0					ENST00000358970.5																			2	Substitution - Missense(2)	p.K507E(2)	urinary_tract(1)|prostate(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(1519-1521)Aaa>Gaa		POTE ankyrin domain family, member C							164.0	115.0	130.0					18																	14513675		692	1590	2282	SO:0001583	missense	388468							g.chr18:14513675T>C	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1519A>G	18.37:g.14513675T>C	ENSP00000351856:p.Lys507Glu						p.K507E	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			10	1518	-			507						Missense_Mutation	SNP	ENST00000358970.5	37	c.1519A>G	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	t	0.001	-3.812128	0.00004	.	.	ENSG00000183206	ENST00000358970	T	0.32753	1.44	1.53	-3.07	0.05363	.	.	.	.	.	T	0.10165	0.0249	N	0.11427	0.14	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31752	-0.9932	9	0.02654	T	1	.	3.0168	0.06063	0.0:0.3604:0.2511:0.3885	.	507	B2RU33	POTEC_HUMAN	E	507	ENSP00000351856:K507E	ENSP00000351856:K507E	K	-	1	0	POTEC	14503675	0.024000	0.19004	0.012000	0.15200	0.024000	0.10985	-0.021000	0.12504	-1.054000	0.03214	-3.018000	0.00074	AAA		0.284	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		4	114	0	0	0	0.001168	0	4	114				
MYH15	22989	broad.mit.edu	37	3	108172944	108172944	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr3:108172944C>G	ENST00000273353.3	-	22	2424	c.2368G>C	c.(2368-2370)Gat>Cat	p.D790H	MYH15_ENST00000495753.2_5'Flank	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	790	Myosin motor.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						AGTCTCTCATCTCTTATTGCT	0.393																																						ENST00000273353.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						c.(2368-2370)Gat>Cat		myosin, heavy chain 15							106.0	97.0	100.0					3																	108172944		1866	4111	5977	SO:0001583	missense	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108172944C>G	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.2368G>C	3.37:g.108172944C>G	ENSP00000273353:p.Asp790His						p.D790H	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN			22	2424	-			790			Myosin head-like.			Missense_Mutation	SNP	ENST00000273353.3	37	c.2368G>C	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.921934	0.52653	.	.	ENSG00000144821	ENST00000273353	T	0.72282	-0.64	5.25	0.586	0.17434	Myosin head, motor domain (1);	.	.	.	.	T	0.78641	0.4315	H	0.94964	3.605	0.47183	D	0.999345	P	0.42961	0.795	P	0.45998	0.5	T	0.76971	-0.2761	9	0.72032	D	0.01	.	7.141	0.25556	0.0:0.5851:0.2426:0.1723	.	790	Q9Y2K3	MYH15_HUMAN	H	790	ENSP00000273353:D790H	ENSP00000273353:D790H	D	-	1	0	MYH15	109655634	1.000000	0.71417	0.001000	0.08648	0.691000	0.40173	2.851000	0.48302	-0.112000	0.11979	0.655000	0.94253	GAT		0.393	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		5	51	0	0	0	0.000602	0	5	51				
COL4A5	1287	broad.mit.edu	37	X	107816843	107816843	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chrX:107816843C>T	ENST00000361603.2	+	9	749	c.505C>T	c.(505-507)Cca>Tca	p.P169S	COL4A5_ENST00000328300.6_Missense_Mutation_p.P169S	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	169	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						ACTGCCAGGACCAAAGGGTAA	0.363									Alport syndrome with Diffuse Leiomyomatosis																													ENST00000328300.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						c.(505-507)Cca>Tca		collagen, type IV, alpha 5							132.0	124.0	127.0					X																	107816843		2203	4300	6503	SO:0001583	missense	1287	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107816843C>T	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.505C>T	X.37:g.107816843C>T	ENSP00000354505:p.Pro169Ser					COL4A5_ENST00000361603.2_Missense_Mutation_p.P169S	p.P169S	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN			9	749	+			169			Triple-helical region.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	c.505C>T	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	C	0.738	-0.777479	0.02929	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.93189	-3.18;-3.18	5.25	4.37	0.52481	.	0.385415	0.27411	N	0.019500	D	0.90082	0.6902	L	0.52759	1.655	0.33149	D	0.545478	B;B	0.27882	0.192;0.192	B;B	0.25614	0.062;0.062	D	0.88586	0.3140	10	0.21540	T	0.41	.	14.6349	0.68682	0.1468:0.8532:0.0:0.0	.	169;169	E7EVY4;P29400	.;CO4A5_HUMAN	S	169	ENSP00000331902:P169S;ENSP00000354505:P169S	ENSP00000331902:P169S	P	+	1	0	COL4A5	107703499	1.000000	0.71417	1.000000	0.80357	0.126000	0.20510	4.001000	0.57046	1.090000	0.41315	-0.330000	0.08379	CCA		0.363	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			46	128	0	0	0	0.003610	0	46	128				
TENM2	57451	broad.mit.edu	37	5	167674845	167674845	+	Missense_Mutation	SNP	C	C	T	rs367824725		TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr5:167674845C>T	ENST00000518659.1	+	27	6940	c.6901C>T	c.(6901-6903)Cgc>Tgc	p.R2301C	TENM2_ENST00000519204.1_Missense_Mutation_p.R2180C|TENM2_ENST00000403607.2_Missense_Mutation_p.R2125C|TENM2_ENST00000520394.1_Missense_Mutation_p.R2062C|TENM2_ENST00000545108.1_Missense_Mutation_p.R2300C	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2301					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										TGTCCAGTACCGCTATGATGG	0.567																																						ENST00000519204.1																			0											c.(6538-6540)Cgc>Tgc		teneurin transmembrane protein 2		C	CYS/ARG	1,4103		0,1,2051	98.0	100.0	99.0		6874	3.6	1.0	5		99	1,8377		0,1,4188	no	missense	ODZ2	NM_001122679.1	180	0,2,6239	TT,TC,CC		0.0119,0.0244,0.016	probably-damaging	2292/2766	167674845	2,12480	2052	4189	6241	SO:0001583	missense	57451							g.chr5:167674845C>T	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.6901C>T	5.37:g.167674845C>T	ENSP00000429430:p.Arg2301Cys					TENM2_ENST00000518659.1_Missense_Mutation_p.R2301C|TENM2_ENST00000403607.2_Missense_Mutation_p.R2125C|TENM2_ENST00000520394.1_Missense_Mutation_p.R2062C|TENM2_ENST00000545108.1_Missense_Mutation_p.R2300C	p.R2180C							26	6656	+								Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.6538C>T		.	.	.	.	.	.	.	.	.	.	C	16.04	3.009032	0.54361	2.44E-4	1.19E-4	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.89939	-2.12;-2.11;-2.22;-2.57;-2.59	5.44	3.58	0.41010	.	0.047100	0.85682	D	0.000000	D	0.92071	0.7487	L	0.53249	1.67	0.58432	D	0.999991	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.72982	0.979;0.953;0.862	D	0.91321	0.5082	10	0.39692	T	0.17	.	14.6172	0.68558	0.2651:0.7349:0.0:0.0	.	2300;2301;2062	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	C	2301;2300;2180;2062;2125	ENSP00000429430:R2301C;ENSP00000438635:R2300C;ENSP00000428964:R2180C;ENSP00000427874:R2062C;ENSP00000384905:R2125C	ENSP00000384905:R2125C	R	+	1	0	ODZ2	167607423	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.936000	0.63506	1.280000	0.44463	0.561000	0.74099	CGC		0.567	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		38	107	0	0	0	0.005524	0	38	107				
MARK1	4139	broad.mit.edu	37	1	220791711	220791711	+	Silent	SNP	T	T	C			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr1:220791711T>C	ENST00000366917.4	+	8	878	c.612T>C	c.(610-612)agT>agC	p.S204S	MARK1_ENST00000402574.1_Silent_p.S69S|MARK1_ENST00000366918.4_Silent_p.S182S					MAP/microtubule affinity-regulating kinase 1											central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		TTGGTTTTAGTAATGAATTTA	0.383																																						ENST00000402574.1																			0				central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63						c.(205-207)agT>agC		MAP/microtubule affinity-regulating kinase 1							51.0	55.0	54.0					1																	220791711		2203	4300	6503	SO:0001819	synonymous_variant	4139				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr1:220791711T>C	AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.612T>C	1.37:g.220791711T>C						MARK1_ENST00000366917.4_Silent_p.S204S|MARK1_ENST00000366918.4_Silent_p.S182S	p.S69S	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN		GBM - Glioblastoma multiforme(131;0.0407)	8	1209	+			204			Protein kinase.			Silent	SNP	ENST00000366917.4	37	c.207T>C	CCDS31029.2																																																																																				0.383	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090899.1			21	61	0	0	0	0.002780	0	21	61				
SPSB4	92369	broad.mit.edu	37	3	140785590	140785590	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr3:140785590C>T	ENST00000310546.2	+	2	1388	c.644C>T	c.(643-645)gCc>gTc	p.A215V		NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box containing 4	215	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						GTGGTGAGTGCCGTGTGGGGC	0.617																																						ENST00000310546.2																			0				biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						c.(643-645)gCc>gTc		splA/ryanodine receptor domain and SOCS box containing 4							75.0	72.0	73.0					3																	140785590		2203	4300	6503	SO:0001583	missense	92369				intracellular signal transduction	cytoplasm	protein binding	g.chr3:140785590C>T		CCDS3115.1	3q23	2008-02-05			ENSG00000175093	ENSG00000175093			30630	protein-coding gene	gene with protein product		611660				12076535	Standard	NM_080862		Approved	SSB-4	uc003ett.3	Q96A44	OTTHUMG00000160223	ENST00000310546.2:c.644C>T	3.37:g.140785590C>T	ENSP00000311609:p.Ala215Val						p.A215V	NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN			2	1388	+			215			B30.2/SPRY.			Missense_Mutation	SNP	ENST00000310546.2	37	c.644C>T	CCDS3115.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.981475	0.93044	.	.	ENSG00000175093	ENST00000310546	T	0.60672	0.17	5.21	5.21	0.72293	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	T	0.77177	0.4092	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.80324	-0.1430	10	0.66056	D	0.02	-26.4636	16.251	0.82489	0.0:1.0:0.0:0.0	.	215	Q96A44	SPSB4_HUMAN	V	215	ENSP00000311609:A215V	ENSP00000311609:A215V	A	+	2	0	SPSB4	142268280	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.818000	0.86416	2.424000	0.82194	0.563000	0.77884	GCC		0.617	SPSB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359727.1	NM_080862		4	86	0	0	0	0.000602	0	4	86				
AC007251.2	0	broad.mit.edu	37	2	103500188	103500188	+	lincRNA	DEL	C	C	-			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr2:103500188delC	ENST00000447987.1	-	0	466																											caggttgactcctgactggcg	0.483																																						ENST00000447987.1																			0																																																			0							g.chr2:103500188delC																													2.37:g.103500188delC														0	466	-									RNA	DEL	ENST00000447987.1	37																																																																																						0.483	AC007251.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000329513.1			2	4						2	4	---	---	---	---
AC073321.4	0	broad.mit.edu	37	2	217475010	217475010	+	lincRNA	DEL	G	G	-	rs370329361		TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr2:217475010delG	ENST00000441803.1	+	0	195																											ttttttttttGAAAGAAAGGC	0.393																																						ENST00000441803.1																			0																																																			0							g.chr2:217475010delG																													2.37:g.217475010delG														0	195	+									RNA	DEL	ENST00000441803.1	37																																																																																						0.393	AC073321.4-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000339548.2			3	6						3	6	---	---	---	---
SDHAP1	255812	broad.mit.edu	37	3	195711343	195711344	+	RNA	INS	-	-	T	rs200252504	byFrequency	TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr3:195711343_195711344insT	ENST00000427841.1	-	0	585					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		AAAGACTTCTCTGTGAGCTTTG	0.381													|||unknown(ALL_OTHER_Ns)	3992	0.797125	0.888	0.8112	5008	,	,		14038	0.8571		0.6809	False		,,,				2504	0.7219				Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195711343_195711344insT	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195711344_195711344dupT								NR_003264.2						0	585	-									RNA	INS	ENST00000427841.1	37																																																																																						0.381	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			5	8						5	8	---	---	---	---
SYNJ2	8871	broad.mit.edu	37	6	158504625	158504627	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr6:158504625_158504627delAGA	ENST00000355585.4	+	21	3105_3107	c.3030_3032delAGA	c.(3028-3033)tcagaa>tca	p.E1011del	SYNJ2_ENST00000367121.3_In_Frame_Del_p.E1011del|SYNJ2_ENST00000367112.1_In_Frame_Del_p.E96del|SYNJ2_ENST00000367122.2_In_Frame_Del_p.E1011del	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1011					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		ACTATGAGTCAGAAGGTTAGTGA	0.517																																						ENST00000355585.4																			0				biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(3028-3033)tca>tc		synaptojanin 2																																				SO:0001651	inframe_deletion	8871						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr6:158504625_158504627delAGA	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.3030_3032delAGA	6.37:g.158504625_158504627delAGA	ENSP00000347792:p.Glu1011del					SYNJ2_ENST00000367121.3_In_Frame_Del_p.SE1010del|SYNJ2_ENST00000367122.2_In_Frame_Del_p.SE1010del|SYNJ2_ENST00000367112.1_In_Frame_Del_p.SE95del	p.SE1010del	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	21	3105_3107	+			1010					Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	In_Frame_Del	DEL	ENST00000355585.4	37	c.3030_3032delAGA	CCDS5254.1																																																																																				0.517	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			33	143						33	143	---	---	---	---
ACTB	60	broad.mit.edu	37	7	5567674	5567676	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr7:5567674_5567676delCTT	ENST00000331789.5	-	5	1134_1136	c.943_945delAAG	c.(943-945)aagdel	p.K315del	ACTB_ENST00000464611.1_5'UTR|AC006483.1_ENST00000579427.1_RNA	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta	315					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		CAGTGATCTCCTTCTGCATCCTG	0.581																																						ENST00000331789.5																			0				NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8						c.(943-945)del		actin, beta																																				SO:0001651	inframe_deletion	60				'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton	g.chr7:5567674_5567676delCTT	M28424	CCDS5341.1	7p22	2014-09-17			ENSG00000075624	ENSG00000075624			132	protein-coding gene	gene with protein product		102630				1505215	Standard	NM_001101		Approved		uc003sot.4	P60709	OTTHUMG00000023268	ENST00000331789.5:c.943_945delAAG	7.37:g.5567674_5567676delCTT	ENSP00000349960:p.Lys315del					ACTB_ENST00000464611.1_5'UTR	p.K315del	NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)	5	1134_1136	-		Ovarian(82;0.0606)	315					A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	In_Frame_Del	DEL	ENST00000331789.5	37	c.943_945delAAG	CCDS5341.1																																																																																				0.581	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059589.4	NM_001101		8	245						8	245	---	---	---	---
KMT2C	58508	broad.mit.edu	37	7	151845685	151845686	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr7:151845685_151845686delGA	ENST00000262189.6	-	52	13544_13545	c.13326_13327delTC	c.(13324-13329)actcagfs	p.Q4443fs	KMT2C_ENST00000355193.2_Frame_Shift_Del_p.Q4500fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4443					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GCACCAGCCTGAGTCTCATAGA	0.515																																						ENST00000355193.2																			0											c.(13495-13500)acagfs		lysine (K)-specific methyltransferase 2C																																				SO:0001589	frameshift_variant	58508							g.chr7:151845685_151845686delGA	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.13326_13327delTC	7.37:g.151845685_151845686delGA	ENSP00000262189:p.Gln4443fs					KMT2C_ENST00000262189.6_Frame_Shift_Del_p.TQ4442fs	p.TQ4499fs							53	13715_13716	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Del	DEL	ENST00000262189.6	37	c.13497_13498delTC	CCDS5931.1																																																																																				0.515	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			37	177						37	177	---	---	---	---
UCK1	83549	broad.mit.edu	37	9	134404915	134404915	+	Frame_Shift_Del	DEL	T	T	-			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr9:134404915delT	ENST00000372215.4	-	3	418	c.325delA	c.(325-327)acgfs	p.T109fs	UCK1_ENST00000372208.3_Frame_Shift_Del_p.T109fs|UCK1_ENST00000372210.3_Frame_Shift_Del_p.T100fs|UCK1_ENST00000459858.1_5'UTR|UCK1_ENST00000372211.3_Frame_Shift_Del_p.T114fs	NM_001261450.1|NM_001261451.1|NM_031432.2	NP_001248379.1|NP_001248380.1|NP_113620.1	Q9HA47	UCK1_HUMAN	uridine-cytidine kinase 1	109					CTP salvage (GO:0044211)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)	cytosol (GO:0005829)	ATP binding (GO:0005524)|nucleoside kinase activity (GO:0019206)|uridine kinase activity (GO:0004849)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219)		ACCTCCACCGTTTTGCCCTCC	0.557																																					Melanoma(42;523 1129 28385 43975 48113)	ENST00000372215.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(325-327)cgfs		uridine-cytidine kinase 1							303.0	252.0	269.0					9																	134404915		2203	4300	6503	SO:0001589	frameshift_variant	83549				pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity	g.chr9:134404915delT	AF237290	CCDS6944.1, CCDS48046.1, CCDS59151.1, CCDS59152.1	9q34.1	2008-02-05			ENSG00000130717	ENSG00000130717	2.7.1.48		14859	protein-coding gene	gene with protein product		609328				11306702	Standard	NM_031432		Approved	URK1, FLJ12255	uc031tfj.1	Q9HA47	OTTHUMG00000020823	ENST00000372215.4:c.325delA	9.37:g.134404915delT	ENSP00000361289:p.Thr109fs					UCK1_ENST00000372211.3_Frame_Shift_Del_p.T114fs|UCK1_ENST00000459858.1_5'UTR|UCK1_ENST00000372208.3_Frame_Shift_Del_p.T109fs|UCK1_ENST00000372210.3_Frame_Shift_Del_p.T100fs	p.T109fs	NM_001261450.1|NM_001261451.1|NM_031432.2	NP_001248379.1|NP_001248380.1|NP_113620.1	Q9HA47	UCK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219)	3	418	-			109					Q5JT09|Q5JT10|Q5JT12|Q5JT13|Q6IA74|Q96BJ0	Frame_Shift_Del	DEL	ENST00000372215.4	37	c.325delA	CCDS6944.1																																																																																				0.557	UCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054726.1	NM_031432		47	116						47	116	---	---	---	---
AGAP11	119385	broad.mit.edu	37	10	88767684	88767686	+	RNA	DEL	TCT	TCT	-	rs367961074|rs200372151		TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr10:88767684_88767686delTCT	ENST00000444431.1	+	0	2711				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.10_ENST00000451760.1_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)										AGAAAATGTATCttttttttttt	0.414																																						ENST00000444431.1																			0													ankyrin repeat and GTPase domain Arf GTPase activating protein 11																																						119385				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:88767684_88767686delTCT			10q23.2	2013-01-11			ENSG00000151303	ENSG00000151303		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	29421	protein-coding gene	gene with protein product						11853319	Standard	NM_133447		Approved	KIAA1975	uc001kee.2	Q8TF27	OTTHUMG00000018667		10.37:g.88767684_88767686delTCT						RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA				Q8TF27	AGA11_HUMAN			0	2711	+								B9EIP7|D3DWE4	RNA	DEL	ENST00000444431.1	37																																																																																						0.414	AGAP11-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000049193.1	NM_133447		4	2						4	2	---	---	---	---
LRRC43	254050	broad.mit.edu	37	12	122677545	122677545	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr12:122677545delC	ENST00000339777.4	+	7	1371	c.1343delC	c.(1342-1344)tccfs	p.S448fs	LRRC43_ENST00000425921.1_Frame_Shift_Del_p.S263fs	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	448										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CTCTGCCCGTCCCCAGGGTAA	0.577																																						ENST00000339777.4																			0				NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19						c.(1342-1344)tcfs		leucine rich repeat containing 43							29.0	31.0	30.0					12																	122677545		1951	4140	6091	SO:0001589	frameshift_variant	254050							g.chr12:122677545delC	AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.1343delC	12.37:g.122677545delC	ENSP00000344233:p.Ser448fs					LRRC43_ENST00000425921.1_Frame_Shift_Del_p.S263fs	p.S448fs	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)	7	1371	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		448					Q6ZVT9	Frame_Shift_Del	DEL	ENST00000339777.4	37	c.1343delC	CCDS45001.1																																																																																				0.577	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401589.1	NM_152759		10	36						10	36	---	---	---	---
HTR2A	3356	broad.mit.edu	37	13	47409749	47409750	+	Frame_Shift_Del	DEL	AA	AA	-	rs143289722		TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr13:47409749_47409750delAA	ENST00000378688.4	-	3	769_770	c.638_639delTT	c.(637-639)tttfs	p.F213fs	HTR2A_ENST00000543956.1_Frame_Shift_Del_p.F129fs|HTR2A_ENST00000542664.1_Frame_Shift_Del_p.F213fs			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	213					activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|behavioral response to cocaine (GO:0048148)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|memory (GO:0007613)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of vasoconstriction (GO:0045907)|protein localization to cytoskeleton (GO:0044380)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|regulation of hormone secretion (GO:0046883)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|sleep (GO:0030431)|synaptic transmission (GO:0007268)|temperature homeostasis (GO:0001659)|urinary bladder smooth muscle contraction (GO:0014832)	cell body fiber (GO:0070852)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Acepromazine(DB01614)|Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinitapride(DB08810)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Donepezil(DB00843)|Doxepin(DB01142)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Pergolide(DB01186)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CCTGTAGCCCAAAGACTGGTAT	0.396																																						ENST00000378688.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(637-639)tfs		5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)																																			SO:0001589	frameshift_variant	3356				ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity	g.chr13:47409749_47409750delAA	X57830	CCDS9405.1, CCDS53867.1	13q14-q21	2012-08-08	2012-02-03		ENSG00000102468	ENSG00000102468		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5293	protein-coding gene	gene with protein product		182135	"""5-hydroxytryptamine (serotonin) receptor 2A"""	HTR2		8035173	Standard	NM_000621		Approved	5-HT2A	uc010acr.4	P28223	OTTHUMG00000016881	ENST00000378688.4:c.638_639delTT	13.37:g.47409749_47409750delAA	ENSP00000367959:p.Phe213fs					HTR2A_ENST00000543956.1_Frame_Shift_Del_p.F129fs|HTR2A_ENST00000542664.1_Frame_Shift_Del_p.F213fs	p.F213fs			P28223	5HT2A_HUMAN		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	3	769_770	-		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)	213					B2RAC5|B4DZ79|F5GWE8|Q5T8C0	Frame_Shift_Del	DEL	ENST00000378688.4	37	c.638_639delTT	CCDS9405.1																																																																																				0.396	HTR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044835.3	NM_000621		22	86						22	86	---	---	---	---
RRN3P1	730092	broad.mit.edu	37	16	21812163	21812164	+	RNA	DEL	AA	AA	-			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr16:21812163_21812164delAA	ENST00000546471.1	-	0	1700							Q2M238	RN3P1_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1																		GAATCCCTATAAAAAGAGAGGG	0.381																																						ENST00000546471.1																			0																																																			0							g.chr16:21812163_21812164delAA			16p12.2	2012-10-16			ENSG00000248124	ENSG00000248124			30548	pseudogene	pseudogene						12477932	Standard	NR_003370		Approved		uc010vbl.1	Q2M238	OTTHUMG00000170417		16.37:g.21812165_21812166delAA														0	1700	-								A8K6T4|B3KWX9|O75704	RNA	DEL	ENST00000546471.1	37																																																																																						0.381	RRN3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409035.1	NR_003370		14	108						14	108	---	---	---	---
TYK2	7297	broad.mit.edu	37	19	10479066	10479067	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr19:10479066_10479067delAA	ENST00000525621.1	-	4	702_703	c.221_222delTT	c.(220-222)tttfs	p.F74fs	TYK2_ENST00000524462.1_Intron|TYK2_ENST00000264818.6_Frame_Shift_Del_p.F74fs|TYK2_ENST00000529370.1_Frame_Shift_Del_p.F74fs	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	74	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CGAAGAGGGCAAAGAGATTGAA	0.54																																						ENST00000525621.1																			0				breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(220-222)tfs		tyrosine kinase 2																																				SO:0001589	frameshift_variant	7297				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:10479066_10479067delAA		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.221_222delTT	19.37:g.10479066_10479067delAA	ENSP00000431885:p.Phe74fs					TYK2_ENST00000524462.1_Intron|TYK2_ENST00000529370.1_Frame_Shift_Del_p.F74fs|TYK2_ENST00000264818.6_Frame_Shift_Del_p.F74fs	p.F74fs	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)		4	702_703	-			74			FERM.		Q6QB10|Q96CH0	Frame_Shift_Del	DEL	ENST00000525621.1	37	c.221_222delTT	CCDS12236.1																																																																																				0.540	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1			48	110						48	110	---	---	---	---
LGALS13	29124	broad.mit.edu	37	19	40097866	40097868	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr19:40097866_40097868delAAG	ENST00000221797.4	+	4	352_354	c.307_309delAAG	c.(307-309)aagdel	p.K103del		NM_013268.2	NP_037400.1	Q9UHV8	PP13_HUMAN	lectin, galactoside-binding, soluble, 13	103	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				apoptotic process (GO:0006915)|phospholipid metabolic process (GO:0006644)		carbohydrate binding (GO:0030246)|lysophospholipase activity (GO:0004622)			lung(5)|ovary(1)|urinary_tract(1)	7	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			CTTGTAGATAAAGGTCAATGGCA	0.458																																						ENST00000221797.4																			0				lung(5)|ovary(1)|urinary_tract(1)	7						c.(307-309)del		lectin, galactoside-binding, soluble, 13																																				SO:0001651	inframe_deletion	29124				lipid catabolic process|phospholipid metabolic process		carboxylesterase activity|lysophospholipase activity|sugar binding	g.chr19:40097866_40097868delAAG	AF117383	CCDS33024.1	19q13.2	2014-03-19	2008-07-25		ENSG00000105198	ENSG00000105198		"""Lectins, galactoside-binding"""	15449	protein-coding gene	gene with protein product	"""galectin 13"""	608717				6856484, 10527825	Standard	NM_013268		Approved	PP13, PLAC8	uc002omb.3	Q9UHV8	OTTHUMG00000183073	ENST00000221797.4:c.307_309delAAG	19.37:g.40097866_40097868delAAG	ENSP00000221797:p.Lys103del						p.K103del	NM_013268.2	NP_037400.1	Q9UHV8	PP13_HUMAN	Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)		4	352_354	+	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		103			Galectin.		C5HZ15	In_Frame_Del	DEL	ENST00000221797.4	37	c.307_309delAAG	CCDS33024.1																																																																																				0.458	LGALS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464968.1	NM_013268		31	40						31	40	---	---	---	---
CIC	23152	broad.mit.edu	37	19	42796905	42796906	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr19:42796905_42796906delTG	ENST00000575354.2	+	14	3403_3404	c.3363_3364delTG	c.(3361-3366)actgtgfs	p.V1122fs	CIC_ENST00000160740.3_Frame_Shift_Del_p.V1121fs|CIC_ENST00000572681.2_Frame_Shift_Del_p.V2030fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1122	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TGGTCTACACTGTGGCCACCAG	0.668			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(6085-6090)actgfs		capicua transcriptional repressor																																				SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42796905_42796906delTG	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.3363_3364delTG	19.37:g.42796907_42796908delTG	ENSP00000458663:p.Val1122fs					CIC_ENST00000575354.2_Frame_Shift_Del_p.TV1121fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.TV1120fs	p.TV2029fs			Q96RK0	CIC_HUMAN			15	6155_6156	+		Prostate(69;0.00682)	1121					Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Del	DEL	ENST00000575354.2	37	c.6087_6088delTG	CCDS12601.1																																																																																				0.668	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			26	73						26	73	---	---	---	---
DGCR5	26220	broad.mit.edu	37	22	18976301	18976324	+	RNA	DEL	TATTTATTTATTTATTTATTTATT	TATTTATTTATTTATTTATTTATT	-	rs139950802|rs201945957|rs66539476|rs200974781|rs574686543	byFrequency	TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr22:18976301_18976324delTATTTATTTATTTATTTATTTATT	ENST00000421572.1	+	0	404				DGCR5_ENST00000399539.3_RNA|DGCR5_ENST00000440005.2_RNA|DGCR5_ENST00000438934.1_RNA					DiGeorge syndrome critical region gene 5 (non-protein coding)																		TGGCTGGACAtatttatttatttatttatttatttatttattta	0.411														1731	0.345647	0.7247	0.1945	5008	,	,		12365	0.2004		0.2217	False		,,,				2504	0.2178					ENST00000438934.1																			0																																																			0							g.chr22:18976301_18976324delTATTTATTTATTTATTTATTTATT	X91348		22q11	2012-10-16	2008-08-13		ENSG00000237517	ENSG00000237517		"""Long non-coding RNAs"""	16757	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 37"", ""long intergenic non-protein coding RNA 37"""					8659529	Standard	NR_002733		Approved	NCRNA00037, LINC00037	uc021wku.1		OTTHUMG00000149977		22.37:g.18976301_18976324delTATTTATTTATTTATTTATTTATT						DGCR5_ENST00000440005.2_RNA|DGCR5_ENST00000421572.1_RNA								0	394	+									RNA	DEL	ENST00000421572.1	37																																																																																						0.411	DGCR5-004	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000316630.1	NR_002733		2	4						2	4	---	---	---	---
SRPX	8406	broad.mit.edu	37	X	38079976	38079978	+	In_Frame_Del	DEL	GCA	GCA	-	rs35523939|rs72249350|rs139109693		TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chrX:38079976_38079978delGCA	ENST00000378533.3	-	1	174_176	c.68_70delTGC	c.(67-72)ctgcgc>cgc	p.L23del	RP13-43E11.1_ENST00000423919.1_RNA|SRPX_ENST00000343800.6_Intron|SRPX_ENST00000538295.1_In_Frame_Del_p.L23del|SRPX_ENST00000544439.1_In_Frame_Del_p.L23del|SRPX_ENST00000432886.2_In_Frame_Del_p.L23del|TM4SF2_ENST00000465127.1_Intron	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	23			Missing. {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:8634709, ECO:0000269|PubMed:9162095}.		autophagy (GO:0006914)|cell adhesion (GO:0007155)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|phagolysosome assembly (GO:0001845)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|response to endoplasmic reticulum stress (GO:0034976)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.L23delL(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						GGCGGGACGCgcagcagcagcag	0.729											OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		636	0.168477	0.1657	0.1398	3775	,	,		8591	0.0129		0.2028	False		,,,				2504	0.1053					ENST00000378533.3																			2	Deletion - In frame(2)	p.L23delL(2)	prostate(2)	autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						c.(67-72)cgc>c		sushi-repeat containing protein, X-linked																																				SO:0001651	inframe_deletion	8406				cell adhesion	cell surface|membrane		g.chrX:38079976_38079978delGCA	U78093	CCDS14245.1, CCDS55400.1, CCDS55401.1, CCDS55402.1	Xp21.1	2011-01-25	2011-01-25		ENSG00000101955	ENSG00000101955			11309	protein-coding gene	gene with protein product		300187	"""sushi-repeat-containing protein, X chromosome"", ""sushi-repeat-containing protein, X-linked"""			8634708, 8634709	Standard	NM_006307		Approved	ETX1	uc004ddy.2	P78539	OTTHUMG00000021362	ENST00000378533.3:c.68_70delTGC	X.37:g.38079985_38079987delGCA	ENSP00000367794:p.Leu23del		OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	875	SRPX_ENST00000343800.6_Intron|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000432886.2_In_Frame_Del_p.LR23del|SRPX_ENST00000544439.1_In_Frame_Del_p.LR23del|SRPX_ENST00000538295.1_In_Frame_Del_p.LR23del	p.LR23del	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN			1	174_176	-			23		Missing.			A8K065|B3KWP8|B4DDB8|B4DQH5|F5H4D7|G3V1L0|Q4VX66|Q99652|Q99913	In_Frame_Del	DEL	ENST00000378533.3	37	c.68_70delTGC	CCDS14245.1																																																																																				0.729	SRPX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056243.1	NM_006307		6	9						6	9	---	---	---	---
RPGR	6103	broad.mit.edu	37	X	38145181	38145192	+	Intron	DEL	TCCCCTTCCACT	TCCCCTTCCACT	-	rs144299434|rs199896738		TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chrX:38145181_38145192delTCCCCTTCCACT	ENST00000339363.3	-	14	2688				RPGR_ENST00000318842.7_Intron|RPGR_ENST00000338898.3_Intron|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000309513.3_Intron|RPGR_ENST00000378505.2_In_Frame_Del_p.1020_1024EVEGE>E|RPGR_ENST00000342811.3_Intron			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator						cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						cccttccacctccccttccacttccccttcct	0.575																																						ENST00000378505.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						c.(3058-3072)gag>ga		retinitis pigmentosa GTPase regulator			,	112,3556		1,92,18,1485,494					,	-3.7	0.0			48	669,5748		35,422,177,1895,1536	no	coding,intron	RPGR	NM_001034853.1,NM_000328.2	,	36,514,195,3380,2030	A1A1,A1R,A1,RR,R		10.4254,3.0534,7.7442	,	,		781,9304				SO:0001627	intron_variant	6103				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding	g.chrX:38145181_38145192delTCCCCTTCCACT	U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"""retinitis pigmentosa 15"", ""cone dystrophy 1 (X-linked)"""	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.2520+1154AGTGGAAGGGGA>-	X.37:g.38145181_38145192delTCCCCTTCCACT						RPGR_ENST00000318842.7_Intron|RPGR_ENST00000342811.3_Intron|RPGR_ENST00000339363.3_Intron|RPGR_ENST00000338898.3_Intron|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000309513.3_Intron	p.EVEGE1020del	NM_001034853.1	NP_001030025.1	Q92834	RPGR_HUMAN			15	3236_3247	-			810					B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	In_Frame_Del	DEL	ENST00000339363.3	37	c.3060_3071delAGTGGAAGGGGA																																																																																					0.575	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000328		7	9						7	9	---	---	---	---
