#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_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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	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_Description	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_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_AccessionNumbers	i_HGNC_CCDS IDs	i_HGNC_CCDSIDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_DateModified	i_HGNC_DateNameChanged	i_HGNC_DateSymbolChanged	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_EnsemblGeneID	i_HGNC_EnsemblIDsuppliedbyEnsembl	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_Genefamilydescription	i_HGNC_HGNC ID	i_HGNC_HGNCID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_LocusGroup	i_HGNC_LocusType	i_HGNC_Name Synonyms	i_HGNC_NameSynonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_OMIMIDsuppliedbyNCBI	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_PreviousNames	i_HGNC_PreviousSymbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_PubmedIDs	i_HGNC_Record Type	i_HGNC_RecordType	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_RefSeqsuppliedbyNCBI	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UCSCIDsuppliedbyUCSC	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_UniProtIDsuppliedbyUniProt	i_HGNC_VEGA IDs	i_HGNC_VEGAIDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	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_Region	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_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_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_hg18_pos1coor	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_init_n_lod	i_init_t_lod	i_n_alt_count	i_n_alt_count_full	i_n_ref_count	i_n_ref_count_full	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_lod_fstar	i_t_lod_fstar_full	i_t_ref_count_full	i_tumor_f_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	tumor_f
GPR101	83550	broad.mit.edu	37	X	136113492	136113492	+	Silent	SNP	G	G	A	rs200302047		TCGA-V4-A9E5-01A-11D-A39W-08	TCGA-V4-A9E5-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5d231e0-a1cb-491f-aefe-5b9013e11d6c	e246f8fd-514c-4062-9a56-d9f7dd8c8e05	g.chrX:136113492G>A	ENST00000298110.1	-	1	341	c.342C>T	c.(340-342)ttC>ttT	p.F114F		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	114						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					TGGCGAAGGCGAACAGGTGGG	0.622																																						ENST00000298110.1											0			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42						c.(340-342)ttC>ttT	G protein-coupled receptor 101						77.0	57.0	63.0					X																	136113492		2203	4300	6503	SO:0001819	synonymous_variant	83550				integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:136113492G>A	AF411115	AF411115	CCDS14662.1	CCDS14662.1	Xq26.3	2014-01-30			2014-01-30			ENSG00000165370	ENSG00000165370	ENSG00000165370	ENSG00000165370		"""GPCR / Class A : Orphans"""	"""GPCR / Class A : Orphans"""	14963	14963	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300393	300393						11574155	11574155	Standard	Standard	NM_054021	NM_054021		Approved		uc011mwh.2	uc011mwh.2	Q96P66	Q96P66	OTTHUMG00000022521	OTTHUMG00000022521	ENST00000298110.1:c.342C>T	X.37:g.136113492G>A				p.F114F	NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN			1	341	-	Acute lymphoblastic leukemia(192;0.000127)		114		Q5JSM8|Q8NG93	Silent	SNP	ENST00000298110.1	37	c.342C>T	CCDS14662.1																																																																																									0.622	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058519.1		45.655241	-7	-7	24	24			14	46.015072	46.015072	8	0.636364	0	0	0	1	0	14	8	0.636364
UBR5	51366	broad.mit.edu	37	8	103289313	103289313	+	Silent	SNP	A	A	G			TCGA-V4-A9E5-01A-11D-A39W-08	TCGA-V4-A9E5-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5d231e0-a1cb-491f-aefe-5b9013e11d6c	e246f8fd-514c-4062-9a56-d9f7dd8c8e05	g.chr8:103289313A>G	ENST00000520539.1	-	45	7002	c.6396T>C	c.(6394-6396)acT>acC	p.T2132T	UBR5_ENST00000220959.4_Silent_p.T2132T|UBR5_ENST00000521922.1_Silent_p.T2126T	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2132					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TTGAACTCTCAGTTTCTTCTG	0.423																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1											0			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(6394-6396)acT>acC	ubiquitin protein ligase E3 component n-recognin 5						186.0	170.0	175.0					8																	103289313		2203	4300	6503	SO:0001819	synonymous_variant	51366			cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103289313A>G	AF006010	AF006010	CCDS34933.1, CCDS64946.1	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	"""Ubiquitin protein ligase E3 component n-recognins"""	16806	16806	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608413	608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	10030672, 16055722	Standard	Standard	NM_015902	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	uc003ykr.2	O95071	O95071	OTTHUMG00000164755	OTTHUMG00000164755	ENST00000520539.1:c.6396T>C	8.37:g.103289313A>G			UBR5_ENST00000521922.1_Silent_p.T2126T|UBR5_ENST00000220959.4_Silent_p.T2132T	p.T2132T	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		45	7002	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		2132		B2RP24|J3KMW7|O94970|Q9NPL3	Silent	SNP	ENST00000520539.1	37	c.6396T>C	CCDS34933.1																																																																																									0.423	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2		142.772287	-36	-36	88	88	NM_015902		51	146.413256	146.413256	101	0.335526	0	0	0	1	0	51	101	0.335526
TRAV3	28690	broad.mit.edu	37	14	22192114	22192114	+	RNA	SNP	C	C	T			TCGA-V4-A9E5-01A-11D-A39W-08	TCGA-V4-A9E5-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5d231e0-a1cb-491f-aefe-5b9013e11d6c	e246f8fd-514c-4062-9a56-d9f7dd8c8e05	g.chr14:22192114C>T	ENST00000390425.2	+	0	155									T cell receptor alpha variable 3 (gene/pseudogene)																		CAATCCCGCCCGCCGTGAGCT	0.587																																						ENST00000390425.2											0																	115.0	115.0	115.0					14																	22192114		1935	4126	6061			0						g.chr14:22192114C>T	AE000658	AE000658			14q11.2	2012-02-07	2008-09-12		2012-02-07	2008-09-12		ENSG00000211777	ENSG00000211777	ENSG00000211777	ENSG00000211777		"""T cell receptors / TRA locus"""	"""T cell receptors / TRA locus"""	12128	12128	other	T cell receptor gene	other	T cell receptor gene					"""T cell receptor alpha variable 3"""		"""T cell receptor alpha variable 3"""			8188290	8188290	Standard	Standard	NG_001332	NG_001332		Approved						OTTHUMG00000168981	OTTHUMG00000168981		14.37:g.22192114C>T											0	155	+						RNA	SNP	ENST00000390425.2	37																																																																																											0.587	TRAV3-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000401876.1		-5.155015	19	19	128	128	NG_001332		4	8.432654	8.432654	63	0.059701	0	0	0	1	0	4	63	0.059701
SSX5	6758	broad.mit.edu	37	X	48054516	48054516	+	Intron	SNP	C	C	G			TCGA-V4-A9E5-01A-11D-A39W-08	TCGA-V4-A9E5-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5d231e0-a1cb-491f-aefe-5b9013e11d6c	e246f8fd-514c-4062-9a56-d9f7dd8c8e05	g.chrX:48054516C>G	ENST00000376923.1	-	1	69				SSX5_ENST00000311798.1_Missense_Mutation_p.S40T|SSX5_ENST00000347757.1_Intron			O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						CCAGAACGGACTGAGATTCAC	0.537																																						ENST00000311798.1											0			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						c.(118-120)aGt>aCt	synovial sarcoma, X breakpoint 5						84.0	74.0	78.0					X																	48054516		2203	4299	6502	SO:0001627	intron_variant	6758			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:48054516C>G	BC016640	BC016640	CCDS14288.1, CCDS14289.1	CCDS14288.1, CCDS14289.1	Xp11.23	2008-02-05			2008-02-05			ENSG00000165583	ENSG00000165583	ENSG00000165583	ENSG00000165583				11339	11339	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300327	300327								Standard	Standard	NM_021015	NM_021015		Approved		uc004diz.1	uc004diz.1	O60225	O60225	OTTHUMG00000021471	OTTHUMG00000021471	ENST00000376923.1:c.69+209G>C	X.37:g.48054516C>G			SSX5_ENST00000376923.1_Intron|SSX5_ENST00000347757.1_Intron	p.S40T	NM_021015.3	NP_066295.3	O60225	SSX5_HUMAN			3	171	-			23	KRAB-related.	Q5JQ59|Q5JQ60|Q96AW3	Missense_Mutation	SNP	ENST00000376923.1	37	c.119G>C	CCDS14289.1	.	.	.	.	.	.	.	.	.	.	N	0	-2.791560	0.00077	.	.	ENSG00000165583	ENST00000311798	T	0.09630	2.96	0.843	-1.69	0.08186	0.843	-1.69	0.08186	.	.	.	.	.	T	0.05868	0.0153	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.38866	-0.9641	7	0.33940	T	0.23	.	.	.	.	.	40	O60225-2	.	T	40	ENSP00000312415:S40T	ENSP00000312415:S40T	S	-	2	0	0	SSX5	47939460	47939460	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	-0.102000	0.10956	-0.826000	0.04284	-1.180000	0.01717	AGT		0.537	SSX5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056466.1		89.840436	-20	-20	68	68	NM_021015		29	92.911887	92.911887	65	0.308511	0	0	0	1	0	29	65	0.308511
NCBP2L	392517	broad.mit.edu	37	X	107018505	107018505	+	5'Flank	SNP	G	G	T			TCGA-V4-A9E5-01A-11D-A39W-08	TCGA-V4-A9E5-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5d231e0-a1cb-491f-aefe-5b9013e11d6c	e246f8fd-514c-4062-9a56-d9f7dd8c8e05	g.chrX:107018505G>T	ENST00000509000.2	+	0	0				TSC22D3_ENST00000372384.2_Silent_p.R49R|TSC22D3_ENST00000506081.1_Silent_p.R49R|TSC22D3_ENST00000315660.4_Silent_p.R49R|TSC22D3_ENST00000372383.4_Silent_p.R49R|TSC22D3_ENST00000514426.1_5'UTR			A6PVI3	NCB2L_HUMAN	nuclear cap binding protein subunit 2-like						mRNA cis splicing, via spliceosome (GO:0045292)	nuclear cap binding complex (GO:0005846)	nucleotide binding (GO:0000166)|RNA cap binding (GO:0000339)			large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	5						TGCAGCTGCCGAAAGTTGCTC	0.607																																						ENST00000372383.4											0			breast(1)|large_intestine(2)|lung(3)	6						c.(145-147)Cgg>Agg	TSC22 domain family, member 3						82.0	68.0	73.0					X																	107018505		2203	4300	6503	SO:0001631	upstream_gene_variant	1831					sequence-specific DNA binding transcription factor activity	g.chrX:107018505G>T		Z50781		CCDS14530.1, CCDS14531.1, CCDS35365.1	Xq22.3	2013-02-12			2008-02-15	2005-03-01	2005-03-03	ENSG00000170935	ENSG00000170935	ENSG00000157514	ENSG00000157514		"""RNA binding motif (RRM) containing"""		31795	3051	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product		"""glucocorticoid-induced leucine zipper"""		300506			"""delta sleep inducing peptide, immunoreactor"""	DSIPI			8982256	Standard	Standard	NG_011409	XM_005262098		Approved			uc004enh.3	A6PVI3	Q99576	OTTHUMG00000022169	OTTHUMG00000022168		X.37:g.107018505G>T	Exception_encountered		TSC22D3_ENST00000514426.1_5'UTR|TSC22D3_ENST00000506081.1_Silent_p.R49R|TSC22D3_ENST00000372384.2_Silent_p.R49R|TSC22D3_ENST00000315660.4_Silent_p.R49R	p.R49R	NM_198057.2	NP_932174.1	Q99576	T22D3_HUMAN			1	512	-			0	AP1-binding (By similarity).		Silent	SNP	ENST00000509000.2	37	c.145C>A																																																																																										0.607	NCBP2L-001	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000057850.2		153.109964	-47	-47	69	69	XM_373362		48	153.631065	153.631065	34	0.585366	1	0	2.74224e-37	1	3.00341e-37	48	34	0.585366
LYPLA2	11313	ucsc.edu	37	1	24123572	24123572	+	IGR	SNP	A	A	G			TCGA-V4-A9E5-01A-11D-A39W-08	TCGA-V4-A9E5-10A-01D-A39Z-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a5d231e0-a1cb-491f-aefe-5b9013e11d6c	e246f8fd-514c-4062-9a56-d9f7dd8c8e05	g.chr1:24123572A>G	ENST00000374514.3	+	0	1810				GALE_ENST00000374497.3_Silent_p.G198G|GALE_ENST00000470383.1_5'Flank	NM_007260.2	NP_009191.1	O95372	LYPA2_HUMAN	lysophospholipase II						fatty acid metabolic process (GO:0006631)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	hydrolase activity (GO:0016787)			endometrium(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		GGGGATCCTCACCAATGCAGC	0.587																																																	0																	78.0	65.0	69.0					1																	24123572		2203	4300	6503	SO:0001628	intergenic_variant	2582							AF098668	BC050685	CCDS241.1	CCDS242.1	1p36.11	2008-08-08			2012-10-02	2004-11-17		ENSG00000011009	ENSG00000011009	ENSG00000117308	ENSG00000117308	3.1.1.5		"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	6738	4116	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product		"""short chain dehydrogenase/reductase family 1E, member 1"", ""UDP-glucose 4-epimerase"""		606953			"""galactose-4-epimerase, UDP-"""				8593531, 19027726	Standard	Standard	NM_007260	NM_001127621		Approved	APT-2	uc001bht.3	uc009vqo.1	O95372	Q14376	OTTHUMG00000002961	OTTHUMG00000002958		1.37:g.24123572A>G																		Q7Z4Z2	Silent	SNP	ENST00000374514.3	37		CCDS241.1																																																																																									0.587	LYPLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008245.1			0	0	16	16			4			15							4	15	
FCGR2A	2212	broad.mit.edu	37	1	161487879	161487879	+	Missense_Mutation	SNP	G	G	T			TCGA-V4-A9E5-01A-11D-A39W-08	TCGA-V4-A9E5-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5d231e0-a1cb-491f-aefe-5b9013e11d6c	e246f8fd-514c-4062-9a56-d9f7dd8c8e05	g.chr1:161487879G>T	ENST00000271450.6	+	7	933	c.895G>T	c.(895-897)Gat>Tat	p.D299Y	RP11-25K21.6_ENST00000537821.2_RNA|FCGR2A_ENST00000367972.4_Missense_Mutation_p.D298Y|FCGR2A_ENST00000486608.1_3'UTR	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	299					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D298N(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ACCTACTGACGATGATAAAAA	0.443																																						ENST00000271450.6											1	Substitution - Missense(1)	lung(1)	autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19						c.(895-897)Gat>Tat	Fc fragment of IgG, low affinity IIa, receptor (CD32)						70.0	70.0	70.0					1																	161487879		2202	4293	6495	SO:0001583	missense	2212				integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161487879G>T	J03619	J03619	CCDS30922.1, CCDS44264.1	CCDS30922.1, CCDS44264.1	1q23	2013-01-11	2005-02-02		2013-01-11	2005-02-02		ENSG00000143226	ENSG00000143226	ENSG00000143226	ENSG00000143226		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3616	3616	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""Immunoglobulin G Fc receptor II"""	"""Immunoglobulin G Fc receptor II"""	146790	146790	"""Fc fragment of IgG, low affinity IIa, receptor for (CD32)"""	FCG2, FCGR2A1, FCGR2	"""Fc fragment of IgG, low affinity IIa, receptor for (CD32)"""	FCG2, FCGR2A1, FCGR2		2139735	2139735	Standard	Standard	NM_021642	NM_021642		Approved	CD32, CD32A, IGFR2, CDw32	uc001gan.3	uc001gan.3	P12318	P12318	OTTHUMG00000034469	OTTHUMG00000034469	ENST00000271450.6:c.895G>T	1.37:g.161487879G>T	ENSP00000271450:p.Asp299Tyr		FCGR2A_ENST00000367972.4_Missense_Mutation_p.D298Y|FCGR2A_ENST00000486608.1_3'UTR|RP11-25K21.6_ENST00000537821.2_RNA	p.D299Y	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		7	933	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		299		Q8WUN1|Q8WW64	Missense_Mutation	SNP	ENST00000271450.6	37	c.895G>T	CCDS44264.1	.	.	.	.	.	.	.	.	.	.	.	8.527	0.870108	0.17322	.	.	ENSG00000143226	ENST00000367972;ENST00000271450;ENST00000537821;ENST00000461298	T;T	0.02682	4.2;4.2	0.565	-0.483	0.12075	0.565	-0.483	0.12075	.	5.152060	0.01233	U	0.008401	T	0.01800	0.0057	N	0.08118	0	0.25218	N	0.989926	D;D	0.89917	0.999;1.0	D;D	0.87578	0.995;0.998	T	0.44112	-0.9349	8	0.66056	D	0.02	.	.	.	.	.	299;298	P12318;P12318-2	FCG2A_HUMAN;.	Y	298;299;34;34	ENSP00000356949:D298Y;ENSP00000271450:D299Y	ENSP00000271450:D299Y	D	+	1	0	0	FCGR2A	159754503	159754503	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-0.132000	0.10467	-0.258000	0.09446	-0.251000	0.11542	GAT		0.443	FCGR2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083318.3		47.594395	-41	-41	46	46	NM_021642		16	48.530766	48.530766	30	0.347826	1	0	5.61819e-17	1	5.61819e-17	16	30	0.347826
ZAN	7455	broad.mit.edu	37	7	100345181	100345181	+	RNA	SNP	C	C	T			TCGA-V4-A9E5-01A-11D-A39W-08	TCGA-V4-A9E5-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5d231e0-a1cb-491f-aefe-5b9013e11d6c	e246f8fd-514c-4062-9a56-d9f7dd8c8e05	g.chr7:100345181C>T	ENST00000348028.3	+	0	1105				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AGGGAGTATCCGGAAACACAC	0.517																																						ENST00000542585.1											0			NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139							zonadhesin (gene/pseudogene)						105.0	99.0	101.0					7																	100345181		1971	4137	6108			7455			binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100345181C>T	U83191	U83191			7q22.1	2013-10-10	2013-10-10		2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839	ENSG00000146839	ENSG00000146839				12857	12857	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602372	602372	"""zonadhesin"""		"""zonadhesin"""			9799793, 17033959	9799793, 17033959	Standard	Standard	NM_003386	NM_003386		Approved		uc003uwk.3	uc003uwk.3	Q9Y493	Q9Y493	OTTHUMG00000157037	OTTHUMG00000157037		7.37:g.100345181C>T			ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	1088	+	Lung NSC(181;0.041)|all_lung(186;0.0581)				A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	C	14.71	2.616430	0.46736	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.02236	4.38;4.38;4.38	4.19	2.37	0.29283	4.19	2.37	0.29283	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.631401	0.13198	N	0.406231	T	0.03783	0.0107	M	0.79475	2.455	0.80722	D	1	P;P	0.38729	0.591;0.644	B;B	0.35931	0.136;0.214	T	0.39251	-0.9623	10	0.87932	D	0	.	5.1566	0.15038	0.2039:0.691:0.0:0.1051	.	314;314	F5H0T8;Q9Y493	.;ZAN_HUMAN	W	314	ENSP00000445943:R314W;ENSP00000445091:R314W;ENSP00000444427:R314W	ENSP00000423579:R314W	R	+	1	2	2	ZAN	100183117	100183117	1.000000	0.71417	0.998000	0.56505	0.437000	0.31866	1.130000	0.31393	0.696000	0.31696	0.650000	0.86243	CGG		0.517	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1		46.517687	-5	-5	67	67	NM_003386		15	46.97224	46.972240	24	0.384615	0	0	0	1	0	15	24	0.384615
TFAP2B	7021	broad.mit.edu	37	6	50805696	50805696	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9E5-01A-11D-A39W-08	TCGA-V4-A9E5-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5d231e0-a1cb-491f-aefe-5b9013e11d6c	e246f8fd-514c-4062-9a56-d9f7dd8c8e05	g.chr6:50805696C>T	ENST00000393655.3	+	5	999	c.830C>T	c.(829-831)tCg>tTg	p.S277L	TFAP2B_ENST00000263046.4_Missense_Mutation_p.S286L	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	277					aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					AGAGCCAAATCGAAAAATGGG	0.428																																					Pancreas(116;1373 2332 5475 10752)	ENST00000263046.4											0			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40						c.(856-858)tCg>tTg	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)						83.0	94.0	90.0					6																	50805696		2203	4300	6503	SO:0001583	missense	7021			nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr6:50805696C>T	X95694	X95694	CCDS4934.2	CCDS4934.2	6p12	2008-02-05	2001-11-28		2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196	ENSG00000008196	ENSG00000008196				11743	11743	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601601	601601	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"""		"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"""			7555706, 8661133	7555706, 8661133	Standard	Standard	NM_003221	NM_003221		Approved	AP2-B	uc003pag.3	uc003pag.3	Q92481	Q92481	OTTHUMG00000014836	OTTHUMG00000014836	ENST00000393655.3:c.830C>T	6.37:g.50805696C>T	ENSP00000377265:p.Ser277Leu		TFAP2B_ENST00000393655.3_Missense_Mutation_p.S277L	p.S286L			Q92481	AP2B_HUMAN			6	1023	+	Lung NSC(77;0.156)		277		Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Missense_Mutation	SNP	ENST00000393655.3	37	c.857C>T	CCDS4934.2	.	.	.	.	.	.	.	.	.	.	C	34	5.315280	0.95655	.	.	ENSG00000008196	ENST00000393655;ENST00000263046	D;D	0.97041	-4.22;-4.22	5.63	5.63	0.86233	5.63	5.63	0.86233	Transcription factor AP-2, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.98741	0.9577	M	0.88842	2.985	0.80722	D	1	D	0.71674	0.998	D	0.79108	0.992	D	0.99338	1.0911	10	0.87932	D	0	-11.5258	20.0471	0.97613	0.0:1.0:0.0:0.0	.	277	Q92481	AP2B_HUMAN	L	277;286	ENSP00000377265:S277L;ENSP00000263046:S286L	ENSP00000263046:S286L	S	+	2	0	0	TFAP2B	50913655	50913655	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.815000	0.96918	0.561000	0.74099	TCG		0.428	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040886.3		5.233562	-44	-44	86	86	NM_003221		11	24.883518	24.883518	107	0.093220	0	0	0	1	0	11	107	0.09322
SF3B1	23451	broad.mit.edu	37	2	198267360	198267360	+	Missense_Mutation	SNP	T	T	G	rs374250186		TCGA-V4-A9E5-01A-11D-A39W-08	TCGA-V4-A9E5-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5d231e0-a1cb-491f-aefe-5b9013e11d6c	e246f8fd-514c-4062-9a56-d9f7dd8c8e05	g.chr2:198267360T>G	ENST00000335508.6	-	14	2088	c.1997A>C	c.(1996-1998)aAg>aCg	p.K666T	SNORA4_ENST00000365564.1_RNA|SF3B1_ENST00000462613.1_5'Flank	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	666					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)	p.K666R(7)|p.K666T(6)|p.K666M(6)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TTGTACAATCTTAATACCAGT	0.413			Mis		myelodysplastic syndrome																																	ENST00000335508.6		Dom	yes		2	2q33.1	23451	"""splicing factor 3b, subunit 1, 155kDa"""		L	19	Substitution - Missense(19)	haematopoietic_and_lymphoid_tissue(18)|NS(1)	NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(1996-1998)aAg>aCg	splicing factor 3b, subunit 1, 155kDa						116.0	116.0	116.0					2																	198267360		2203	4300	6503	SO:0001583	missense	23451			nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198267360T>G	AF054284	AF054284	CCDS33356.1, CCDS46479.1	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524	ENSG00000115524	ENSG00000115524				10768	10768	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605590	605590	"""splicing factor 3b, subunit 1, 155kD"""		"""splicing factor 3b, subunit 1, 155kD"""			9585501	9585501	Standard	Standard	XM_005246428	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	uc002uue.3	O75533	O75533	OTTHUMG00000154447	OTTHUMG00000154447	ENST00000335508.6:c.1997A>C	2.37:g.198267360T>G	ENSP00000335321:p.Lys666Thr			p.K666T	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		14	2088	-					E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.1997A>C	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.736206	0.89482	.	.	ENSG00000115524	ENST00000335508	T	0.65549	-0.16	5.68	5.68	0.88126	5.68	5.68	0.88126	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85208	0.5644	H	0.95645	3.7	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.89754	0.3942	10	0.87932	D	0	.	15.938	0.79729	0.0:0.0:0.0:1.0	.	666	O75533	SF3B1_HUMAN	T	666	ENSP00000335321:K666T	ENSP00000335321:K666T	K	-	2	0	0	SF3B1	197975605	197975605	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.877000	0.87225	2.167000	0.68274	0.459000	0.35465	AAG		0.413	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2		91.199480	-9	-9	60	60			28	91.19948	91.199480	28	0.500000	0	0	0	1	0	28	28	0.5
LRRC66	339977	broad.mit.edu	37	4	52861873	52861873	+	Missense_Mutation	SNP	C	C	G			TCGA-V4-A9E5-01A-11D-A39W-08	TCGA-V4-A9E5-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5d231e0-a1cb-491f-aefe-5b9013e11d6c	e246f8fd-514c-4062-9a56-d9f7dd8c8e05	g.chr4:52861873C>G	ENST00000343457.3	-	4	1321	c.1315G>C	c.(1315-1317)Gag>Cag	p.E439Q		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	439						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						AGATGGGTCTCTGGGTGTGGT	0.547																																						ENST00000343457.3											0			central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						c.(1315-1317)Gag>Cag	leucine rich repeat containing 66						108.0	115.0	113.0					4																	52861873		2055	4191	6246	SO:0001583	missense	339977				integral to membrane		g.chr4:52861873C>G	BC040414	BC040414	CCDS43229.1	CCDS43229.1	4q12	2008-08-08			2008-08-08			ENSG00000188993	ENSG00000188993	ENSG00000188993	ENSG00000188993				34299	34299	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	XM_005265739	XM_005265739		Approved		uc003gzi.3	uc003gzi.3	Q68CR7	Q68CR7	OTTHUMG00000160623	OTTHUMG00000160623	ENST00000343457.3:c.1315G>C	4.37:g.52861873C>G	ENSP00000341944:p.Glu439Gln			p.E439Q	NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN			4	1321	-			439			Missense_Mutation	SNP	ENST00000343457.3	37	c.1315G>C	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	C	6.511	0.462436	0.12342	.	.	ENSG00000188993	ENST00000343457	T	0.41758	0.99	4.5	-4.04	0.04010	4.5	-4.04	0.04010	.	1.367370	0.04698	N	0.415285	T	0.22085	0.0532	N	0.08118	0	0.09310	N	1	B	0.23937	0.094	B	0.21708	0.036	T	0.31530	-0.9940	10	0.51188	T	0.08	-0.1784	7.5302	0.27679	0.1576:0.5978:0.0:0.2446	.	439	Q68CR7	LRC66_HUMAN	Q	439	ENSP00000341944:E439Q	ENSP00000341944:E439Q	E	-	1	0	0	LRRC66	52556630	52556630	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.180000	0.03088	-0.311000	0.08754	-0.474000	0.04947	GAG		0.547	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1		125.899902	3	3	132	132	NM_001024611		42	130.75549	130.755490	97	0.302158	0	0	0	1	0	42	97	0.302158
FAT4	79633	broad.mit.edu	37	4	126373735	126373735	+	Missense_Mutation	SNP	C	C	T	rs536513777		TCGA-V4-A9E5-01A-11D-A39W-08	TCGA-V4-A9E5-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5d231e0-a1cb-491f-aefe-5b9013e11d6c	e246f8fd-514c-4062-9a56-d9f7dd8c8e05	g.chr4:126373735C>T	ENST00000394329.3	+	9	11577	c.11564C>T	c.(11563-11565)gCg>gTg	p.A3855V	FAT4_ENST00000335110.5_Missense_Mutation_p.A2153V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3855	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A3855V(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCAGGATATGCGGGTAGCTGG	0.473													C|||	1	0.000199681	0.0	0.0	5008	,	,		20817	0.001		0.0	False		,,,				2504	0.0					ENST00000394329.3											2	Substitution - Missense(2)	prostate(2)	NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(11563-11565)gCg>gTg	FAT atypical cadherin 4						89.0	89.0	89.0					4																	126373735		2203	4300	6503	SO:0001583	missense	79633			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126373735C>T	AY356402	AY356402	CCDS3732.3	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159	ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	"""Cadherins / Cadherin-related"""	23109	23109	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	"""cadherin-related family member 11"""	612411	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""		"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	15003449	Standard	Standard	NM_024582	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	uc003ifj.4	Q6V0I7	Q6V0I7	OTTHUMG00000133100	OTTHUMG00000133100	ENST00000394329.3:c.11564C>T	4.37:g.126373735C>T	ENSP00000377862:p.Ala3855Val		FAT4_ENST00000335110.5_Missense_Mutation_p.A2153V	p.A3855V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			9	11577	+			3855	EGF-like 1.	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.11564C>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	11.18	1.563763	0.27915	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	D;D	0.91792	-2.91;-2.39	5.41	5.41	0.78517	5.41	5.41	0.78517	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.627735	0.12030	U	0.506062	T	0.82056	0.4954	N	0.11023	0.085	0.09310	N	1	P;P;P	0.37997	0.516;0.614;0.516	B;B;B	0.28139	0.086;0.038;0.086	T	0.73701	-0.3900	10	0.37606	T	0.19	.	12.3484	0.55134	0.285:0.715:0.0:0.0	.	2153;3855;3855	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	V	3855;2153	ENSP00000377862:A3855V;ENSP00000335169:A2153V	ENSP00000335169:A2153V	A	+	2	0	0	FAT4	126593185	126593185	0.206000	0.23470	0.011000	0.14972	0.505000	0.33919	3.842000	0.55858	2.527000	0.85204	0.561000	0.74099	GCG		0.473	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2		29.504346	2	2	42	42	NM_024582		11	32.180581	32.180581	34	0.244444	0	0	0	1	0	11	34	0.244444
DLL1	28514	broad.mit.edu	37	6	170594480	170594480	+	Nonsense_Mutation	SNP	G	G	T			TCGA-V4-A9E5-01A-11D-A39W-08	TCGA-V4-A9E5-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5d231e0-a1cb-491f-aefe-5b9013e11d6c	e246f8fd-514c-4062-9a56-d9f7dd8c8e05	g.chr6:170594480G>T	ENST00000366756.3	-	7	1227	c.894C>A	c.(892-894)tgC>tgA	p.C298*		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	298	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|cell-cell signaling (GO:0007267)|compartment pattern specification (GO:0007386)|determination of left/right symmetry (GO:0007368)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|inner ear development (GO:0048839)|left/right axis specification (GO:0070986)|loop of Henle development (GO:0072070)|negative regulation of auditory receptor cell differentiation (GO:0045608)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of myeloid cell differentiation (GO:0045638)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|regulation of cell adhesion (GO:0030155)|somite specification (GO:0001757)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		CTCCATTCTTGCAGGGCTTAT	0.547																																						ENST00000366756.3											0			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33						c.(892-894)tgC>tgA	delta-like 1 (Drosophila)						149.0	127.0	134.0					6																	170594480		2203	4300	6503	SO:0001587	stop_gained	28514			cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding	g.chr6:170594480G>T	AF003522	AF003522	CCDS5313.1	CCDS5313.1	6q13-q22.33	2008-07-28	2001-12-03		2008-07-28	2001-12-03		ENSG00000198719	ENSG00000198719	ENSG00000198719	ENSG00000198719				2908	2908	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606582	606582	"""delta (Drosophila)-like 1"""		"""delta (Drosophila)-like 1"""					Standard	Standard	NM_005618	NM_005618		Approved		uc003qxm.3	uc003qxm.3	O00548	O00548	OTTHUMG00000016078	OTTHUMG00000016078	ENST00000366756.3:c.894C>A	6.37:g.170594480G>T	ENSP00000355718:p.Cys298*			p.C298*	NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)	7	1227	-		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	298	EGF-like 3.	B2RAK7|B5M0B3|Q9NU41|Q9UJV2	Nonsense_Mutation	SNP	ENST00000366756.3	37	c.894C>A	CCDS5313.1	.	.	.	.	.	.	.	.	.	.	G	39	7.640945	0.98406	.	.	ENSG00000198719	ENST00000366756	.	.	.	5.08	1.65	0.23941	5.08	1.65	0.23941	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.2723	0.43489	0.2274:0.0:0.7726:0.0	.	.	.	.	X	298	.	ENSP00000355718:C298X	C	-	3	2	2	DLL1	170436405	170436405	1.000000	0.71417	0.973000	0.42090	0.986000	0.74619	2.293000	0.43558	0.100000	0.17581	-0.471000	0.05019	TGC		0.547	DLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043254.1		94.409052	-6	-6	51	51			29	95.545806	95.545806	14	0.674419	1	0	1.88708e-17	1	1.97286e-17	29	14	0.674419
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	rs121913492		TCGA-V4-A9E5-01A-11D-A39W-08	TCGA-V4-A9E5-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5d231e0-a1cb-491f-aefe-5b9013e11d6c	e246f8fd-514c-4062-9a56-d9f7dd8c8e05	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209			Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation).		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma																																	ENST00000286548.4		Dom	yes		9	9q21	2776	"""guanine nucleotide binding protein (G protein), q polypeptide"""		E	153	Substitution - Missense(153)	eye(99)|skin(43)|meninges(10)|NS(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(625-627)cAa>cCa	guanine nucleotide binding protein (G protein), q polypeptide						108.0	105.0	106.0					9																	80409488		2203	4300	6503	SO:0001583	missense	2776			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80409488T>G			CCDS6658.1	CCDS6658.1	9q21	2010-03-17			2010-03-17			ENSG00000156052	ENSG00000156052	ENSG00000156052	ENSG00000156052				4390	4390	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600998	600998						8825633	8825633	Standard	Standard	NM_002072	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	uc004akw.3	P50148	P50148	OTTHUMG00000020059	OTTHUMG00000020059	ENST00000286548.4:c.626A>C	9.37:g.80409488T>G	ENSP00000286548:p.Gln209Pro		GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	p.Q209P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN			5	848	-			209		O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.626A>C	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614273	0.87359	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97164	0.9073	H	0.97291	3.975	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98607	1.0661	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	P	209;7	ENSP00000286548:Q209P;ENSP00000443197:Q7P	ENSP00000286548:Q209P	Q	-	2	0	0	GNAQ	79599308	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA		0.348	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1		57.705608	-22	-22	90	90	NM_002072		19	59.234369	59.234369	39	0.327586	0	0	0	1	0	19	39	0.327586
SNX18	112574	broad.mit.edu	37	5	53839202	53839202	+	Missense_Mutation	SNP	A	A	G			TCGA-V4-A9E5-01A-11D-A39W-08	TCGA-V4-A9E5-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5d231e0-a1cb-491f-aefe-5b9013e11d6c	e246f8fd-514c-4062-9a56-d9f7dd8c8e05	g.chr5:53839202A>G	ENST00000381410.4	+	2	2005	c.1815A>G	c.(1813-1815)atA>atG	p.I605M	SNX18_ENST00000343017.6_3'UTR	NM_001102575.1	NP_001096045.1	Q96RF0	SNX18_HUMAN	sorting nexin 18	458	BAR.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				AACAAATAATATTTTTCCAAA	0.348																																						ENST00000381410.4											0			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(1813-1815)atA>atG	sorting nexin 18						60.0	58.0	59.0					5																	53839202		1826	4084	5910	SO:0001583	missense	112574			cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding	g.chr5:53839202A>G	AF395536	AF395536	CCDS3962.1, CCDS43317.1, CCDS54851.1	CCDS3962.1, CCDS43317.1, CCDS54851.1	5q11.2	2010-05-12	2008-03-11	2008-03-11	2010-05-12	2008-03-11	2008-03-11	ENSG00000178996	ENSG00000178996	ENSG00000178996	ENSG00000178996		"""Sorting nexins"""	"""Sorting nexins"""	19245	19245	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""sorting nexin associated golgi protein 1"""	SNAG1	"""sorting nexin associated golgi protein 1"""	SNAG1		16782399, 17761170	16782399, 17761170	Standard	Standard	NM_052870	NM_052870		Approved	SH3PX2, SH3PXD3B	uc003jpi.4	uc003jpi.4	Q96RF0	Q96RF0	OTTHUMG00000096994	OTTHUMG00000096994	ENST00000381410.4:c.1815A>G	5.37:g.53839202A>G	ENSP00000370817:p.Ile605Met		SNX18_ENST00000343017.6_3'UTR	p.I605M	NM_001102575.1	NP_001096045.1	Q96RF0	SNX18_HUMAN			2	2005	+		Lung NSC(810;3.46e-05)|Breast(144;0.102)	458	BAR.	B4E2B3|H7BXX3|Q05BB3|Q0VG02	Missense_Mutation	SNP	ENST00000381410.4	37	c.1815A>G	CCDS43317.1	.	.	.	.	.	.	.	.	.	.	A	10.81	1.455669	0.26161	.	.	ENSG00000178996	ENST00000381410	T	0.13778	2.56	5.71	4.54	0.55810	5.71	4.54	0.55810	.	.	.	.	.	T	0.12433	0.0302	.	.	.	0.80722	D	1	B	0.32693	0.38	B	0.35550	0.205	T	0.08472	-1.0720	8	0.48119	T	0.1	.	6.1392	0.20251	0.5818:0.1552:0.0:0.263	.	605	Q96RF0-2	.	M	605	ENSP00000370817:I605M	ENSP00000370817:I605M	I	+	3	3	3	SNX18	53874959	53874959	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.763000	0.38461	0.963000	0.38082	0.528000	0.53228	ATA		0.348	SNX18-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214073.2		22.548956	-10	-10	78	78			9	26.519998	26.519998	37	0.195652	0	0	0	1	0	9	37	0.195652
