#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
EIF1AX	1964	broad.mit.edu	37	X	20156732	20156732	+	Missense_Mutation	SNP	C	C	G			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chrX:20156732C>G	ENST00000379607.5	-	2	228	c.25G>C	c.(25-27)Ggt>Cgt	p.G9R	snoU2-30_ENST00000365012.1_RNA|EIF1AX_ENST00000379593.1_Intron|EIF1AX-AS1_ENST00000424026.1_RNA|snoU2_19_ENST00000364722.1_RNA	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	9					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						CTGTTTTTACCTCCTTTACCT	0.313																																						ENST00000379607.5											0			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						c.(25-27)Ggt>Cgt	eukaryotic translation initiation factor 1A, X-linked						141.0	131.0	134.0					X																	20156732		2203	4300	6503	SO:0001583	missense	1964				cytosol	translation initiation factor activity	g.chrX:20156732C>G	L18960	L18960	CCDS14196.1	CCDS14196.1	Xp22.13	2014-02-19	2002-11-28	2004-05-26	2014-02-19	2002-11-28	2004-05-26	ENSG00000173674	ENSG00000173674	ENSG00000173674	ENSG00000173674				3250	3250	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300186	300186	"""eukaryotic translation initiation factor 1A, X chromosome"""	EIF4C, EIF1A	"""eukaryotic translation initiation factor 1A, X chromosome"""	EIF4C, EIF1A		8106356, 9381176	8106356, 9381176	Standard	Standard	NM_001412	NM_001412		Approved	eIF-1A, eIF-4C	uc004czt.3	uc004czt.3	P47813	P47813	OTTHUMG00000022704	OTTHUMG00000022704	ENST00000379607.5:c.25G>C	X.37:g.20156732C>G	ENSP00000368927:p.Gly9Arg		EIF1AX_ENST00000379593.1_Intron	p.G9R	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN			2	228	-			9		B2R5U5|Q0VGC2|Q5JPS5|Q5JPS6	Missense_Mutation	SNP	ENST00000379607.5	37	c.25G>C	CCDS14196.1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.478585	0.63849	.	.	ENSG00000173674	ENST00000379607	T	0.47528	0.84	4.94	4.94	0.65067	4.94	4.94	0.65067	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.77018	0.4069	M	0.93763	3.455	0.80722	D	1	D	0.67145	0.996	D	0.79784	0.993	D	0.83927	0.0304	9	0.62326	D	0.03	-11.9247	17.661	0.88193	0.0:1.0:0.0:0.0	.	9	P47813	IF1AX_HUMAN	R	9	ENSP00000368927:G9R	ENSP00000368927:G9R	G	-	1	0	0	EIF1AX	20066653	20066653	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	7.237000	0.78164	2.187000	0.69744	0.600000	0.82982	GGT		0.313	EIF1AX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058913.1		194.341419	-15	-15	152	152			56	202.553189	202.553189	9	0.861538	0	0	0	1	0	56	9	0.861538
PCDH10	57575	broad.mit.edu	37	4	134084205	134084205	+	Silent	SNP	T	T	C			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chr4:134084205T>C	ENST00000264360.5	+	4	3697	c.2871T>C	c.(2869-2871)tcT>tcC	p.S957S		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	957					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S957S(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GGATGCCTTCTTTTGTCCCTT	0.493																																						ENST00000264360.5											1	Substitution - coding silent(1)	lung(1)	NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(2869-2871)tcT>tcC	protocadherin 10						176.0	149.0	158.0					4																	134084205		2203	4300	6503	SO:0001819	synonymous_variant	57575			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134084205T>C	AB037821	AB037821	CCDS34063.1, CCDS75192.1	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26			2010-01-26				ENSG00000138650		ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	"""Cadherins / Protocadherins : Non-clustered"""	13404	13404	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608286	608286						10835267	10835267	Standard	Standard	NM_020815	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	uc003iha.3	Q9P2E7	Q9P2E7			ENST00000264360.5:c.2871T>C	4.37:g.134084205T>C				p.S957S	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	4	3697	+					Q4W5F6|Q96SF0	Silent	SNP	ENST00000264360.5	37	c.2871T>C	CCDS34063.1																																																																																									0.493	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2		87.584620	-22	-22	56	56	NM_032961		28	88.363124	88.363124	44	0.388889	0	0	0	1	0	28	44	0.388889
F12	2161	broad.mit.edu	37	5	176831398	176831398	+	Missense_Mutation	SNP	T	T	A			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chr5:176831398T>A	ENST00000253496.3	-	9	865	c.817A>T	c.(817-819)Atc>Ttc	p.I273F	F12_ENST00000514943.1_5'Flank	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	273	Kringle. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|plasma kallikrein-kinin cascade (GO:0002353)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibrinolysis (GO:0051919)|positive regulation of plasminogen activation (GO:0010756)|protein autoprocessing (GO:0016540)|protein processing (GO:0016485)|response to misfolded protein (GO:0051788)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	misfolded protein binding (GO:0051787)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Ethanolamine Oleate(DB06689)	CACGGGCGGATGTCGTTGTCC	0.726									Hereditary Angioedema		OREG0017088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000253496.3											0			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12						c.(817-819)Atc>Ttc	coagulation factor XII (Hageman factor)						13.0	16.0	15.0					5																	176831398		2194	4289	6483	SO:0001583	missense	2161	Familial Cancer Database	HAE, type I-III, Hereditary Angioneurotic Edema, HANE,	Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr5:176831398T>A	M31315	M31315	CCDS34302.1	CCDS34302.1	5q35.3	2014-09-17			2014-09-17			ENSG00000131187	ENSG00000131187	ENSG00000131187	ENSG00000131187	3.4.21.38			3530	3530	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610619	610619								Standard	Standard	NM_000505	NM_000505		Approved		uc003mgo.4	uc003mgo.4	P00748	P00748	OTTHUMG00000163403	OTTHUMG00000163403	ENST00000253496.3:c.817A>T	5.37:g.176831398T>A	ENSP00000253496:p.Ile273Phe	1934		p.I273F	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		9	865	-	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	273	Kringle.	P78339	Missense_Mutation	SNP	ENST00000253496.3	37	c.817A>T	CCDS34302.1	.	.	.	.	.	.	.	.	.	.	T	17.03	3.285006	0.59867	.	.	ENSG00000131187	ENST00000253496	T	0.66815	-0.23	4.92	2.46	0.29980	4.92	2.46	0.29980	Kringle (5);Kringle-like fold (1);Kringle, conserved site (1);	0.804463	0.10753	N	0.638066	T	0.53738	0.1815	L	0.33245	0.995	0.80722	D	1	B	0.32010	0.351	B	0.32149	0.141	T	0.46721	-0.9171	10	0.62326	D	0.03	.	7.0303	0.24962	0.0:0.08:0.1486:0.7714	.	273	P00748	FA12_HUMAN	F	273	ENSP00000253496:I273F	ENSP00000253496:I273F	I	-	1	0	0	F12	176764004	176764004	0.690000	0.27699	0.994000	0.49952	0.916000	0.54674	0.864000	0.27926	0.347000	0.23924	-0.411000	0.06167	ATC		0.726	F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373217.1		30.612453	-6	-6	27	27			11	30.984681	30.984681	18	0.379310	0	0	0	1	0	11	18	0.37931
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	rs121913492		TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	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		253.576717	-5	-5	107	107	NM_002072		74	255.008887	255.008887	46	0.616667	0	0	0	1	0	74	46	0.616667
CLDN2	9075	broad.mit.edu	37	X	106171760	106171760	+	Missense_Mutation	SNP	G	G	C			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chrX:106171760G>C	ENST00000541806.1	+	2	821	c.302G>C	c.(301-303)gGc>gCc	p.G101A	CLDN2_ENST00000540876.1_Missense_Mutation_p.G101A|CLDN2_ENST00000336803.1_Missense_Mutation_p.G101A	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2	101					calcium-independent cell-cell adhesion (GO:0016338)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						TCTGTGGTGGGCATGAGATGC	0.572																																						ENST00000541806.1											0			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						c.(301-303)gGc>gCc	claudin 2						134.0	107.0	116.0					X																	106171760		2203	4300	6503	SO:0001583	missense	9075			calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chrX:106171760G>C	AK075405	AK075405	CCDS14524.1	CCDS14524.1	Xq22.3-q23	2008-05-14			2008-05-14			ENSG00000165376	ENSG00000165376	ENSG00000165376	ENSG00000165376		"""Claudins"""	"""Claudins"""	2041	2041	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300520	300520						9892664	9892664	Standard	Standard	NM_020384	NM_020384		Approved		uc022ccc.1	uc022ccc.1	P57739	P57739	OTTHUMG00000022154	OTTHUMG00000022154	ENST00000541806.1:c.302G>C	X.37:g.106171760G>C	ENSP00000441283:p.Gly101Ala		CLDN2_ENST00000540876.1_Missense_Mutation_p.G101A|CLDN2_ENST00000336803.1_Missense_Mutation_p.G101A	p.G101A	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN			2	821	+			101		B2R6B9	Missense_Mutation	SNP	ENST00000541806.1	37	c.302G>C	CCDS14524.1	.	.	.	.	.	.	.	.	.	.	G	19.52	3.843013	0.71488	.	.	ENSG00000165376	ENST00000541806;ENST00000540876;ENST00000336803	D;D;D	0.90955	-2.76;-2.76;-2.76	5.25	5.25	0.73442	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.95538	0.8550	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95899	0.8913	10	0.59425	D	0.04	.	15.266	0.73663	0.0:0.0:1.0:0.0	.	101	P57739	CLD2_HUMAN	A	101	ENSP00000441283:G101A;ENSP00000443230:G101A;ENSP00000336571:G101A	ENSP00000336571:G101A	G	+	2	0	0	CLDN2	106058416	106058416	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	9.807000	0.99171	2.195000	0.70347	0.523000	0.50628	GGC		0.572	CLDN2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057815.1		-5.212945	-1	-1	104	104			3	6.554177	6.554177	53	0.053571	0	0	0	1	0	3	53	0.053571
EFHC1	114327	broad.mit.edu	37	6	52319006	52319006	+	Silent	SNP	C	C	T			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chr6:52319006C>T	ENST00000371068.5	+	5	940	c.837C>T	c.(835-837)caC>caT	p.H279H	EFHC1_ENST00000433625.2_Silent_p.H188H|EFHC1_ENST00000538167.1_Silent_p.H260H	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	279	DM10 2. {ECO:0000255|PROSITE- ProRule:PRU00665}.					axoneme (GO:0005930)|neuronal cell body (GO:0043025)	calcium ion binding (GO:0005509)|protein C-terminus binding (GO:0008022)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					GAGAGGTCCACGAACGGAATG	0.433																																						ENST00000371068.5											0			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27						c.(835-837)caC>caT	EF-hand domain (C-terminal) containing 1						187.0	169.0	175.0					6																	52319006		2203	4300	6503	SO:0001819	synonymous_variant	114327				axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding	g.chr6:52319006C>T	AK001328	AK001328	CCDS4942.1, CCDS55021.1	CCDS4942.1, CCDS55021.1	6p12.3	2014-02-04			2014-02-04			ENSG00000096093	ENSG00000096093	ENSG00000096093	ENSG00000096093		"""EF-hand domain containing"""	"""EF-hand domain containing"""	16406	16406	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""myoclonin-1"""	"""myoclonin-1"""	608815	608815	"""epilepsy, juvenile myoclonic 1"""	EJM1, EJM	"""epilepsy, juvenile myoclonic 1"""	EJM1, EJM		15258581	15258581	Standard	Standard	NM_018100	NM_018100		Approved	FLJ10466	uc003pap.4	uc003pap.4	Q5JVL4	Q5JVL4	OTTHUMG00000014848	OTTHUMG00000014848	ENST00000371068.5:c.837C>T	6.37:g.52319006C>T			EFHC1_ENST00000538167.1_Silent_p.H260H|EFHC1_ENST00000433625.2_Silent_p.H188H	p.H279H	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN			5	940	+	Lung NSC(77;0.109)		279	DM10 2.	B4DMU3|F5GZD8|Q5XKM4|Q6E1U7|Q6E1U8|Q8WUL2|Q9NVW6	Silent	SNP	ENST00000371068.5	37	c.837C>T	CCDS4942.1																																																																																									0.433	EFHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040905.2		21.745572	-26	-26	76	76	NM_018100		15	37.985273	37.985273	104	0.126050	0	0	0	1	0	15	104	0.12605
TPPP2	122664	broad.mit.edu	37	14	21498873	21498873	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chr14:21498873G>A	ENST00000321760.6	+	2	281	c.133G>A	c.(133-135)Gtc>Atc	p.V45I	NDRG2_ENST00000403829.3_Intron|TPPP2_ENST00000530140.2_Missense_Mutation_p.V45I|AL161668.5_ENST00000533984.1_lincRNA|TPPP2_ENST00000460647.2_Missense_Mutation_p.V45I|RP11-998D10.1_ENST00000531638.1_5'Flank	NM_173846.4	NP_776245.2	P59282	TPPP2_HUMAN	tubulin polymerization-promoting protein family member 2	45						cytoplasm (GO:0005737)				endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		TGGCAAGACAGTCACCTCCAC	0.507																																						ENST00000321760.6											0			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(133-135)Gtc>Atc	tubulin polymerization-promoting protein family member 2						98.0	71.0	80.0					14																	21498873		2203	4300	6503	SO:0001583	missense	122664				cytoplasm		g.chr14:21498873G>A	AY072034	AY072034	CCDS9566.1	CCDS9566.1	14q11.2	2014-01-21	2007-05-02	2007-05-02	2014-01-21	2007-05-02	2007-05-02	ENSG00000179636	ENSG00000179636	ENSG00000179636	ENSG00000179636				19293	19293	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""chromosome 14 open reading frame 8"""	C14orf8	"""chromosome 14 open reading frame 8"""	C14orf8		15590652, 17105200	15590652, 17105200	Standard	Standard	NM_173846	NM_173846		Approved	p25beta, p18, CT152	uc001vzh.3	uc001vzh.3	P59282	P59282	OTTHUMG00000029642	OTTHUMG00000029642	ENST00000321760.6:c.133G>A	14.37:g.21498873G>A	ENSP00000317595:p.Val45Ile		TPPP2_ENST00000460647.2_Missense_Mutation_p.V45I|TPPP2_ENST00000530140.2_Missense_Mutation_p.V45I|NDRG2_ENST00000403829.3_Intron	p.V45I	NM_173846.4	NP_776245.2	P59282	TPPP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)	2	281	+	all_cancers(95;0.000759)		45		Q2VYF3	Missense_Mutation	SNP	ENST00000321760.6	37	c.133G>A	CCDS9566.1	.	.	.	.	.	.	.	.	.	.	G	11.11	1.543732	0.27563	.	.	ENSG00000179636	ENST00000321760;ENST00000460647;ENST00000530140;ENST00000472458;ENST00000481535	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	5.37	3.16	0.36331	5.37	3.16	0.36331	.	0.065286	0.64402	D	0.000010	T	0.23572	0.0570	N	0.20401	0.57	0.45837	D	0.998709	B	0.13145	0.007	B	0.22753	0.041	T	0.04693	-1.0933	10	0.10902	T	0.67	-30.2782	8.2739	0.31860	0.231:0.0:0.769:0.0	.	45	P59282	TPPP2_HUMAN	I	45;45;45;45;40	ENSP00000317595:V45I;ENSP00000427504:V45I;ENSP00000435356:V45I;ENSP00000423171:V45I;ENSP00000421438:V40I	ENSP00000317595:V45I	V	+	1	0	0	TPPP2	20568713	20568713	1.000000	0.71417	0.858000	0.33744	0.788000	0.44548	3.417000	0.52714	1.394000	0.46624	0.655000	0.94253	GTC		0.507	TPPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073914.3		31.648567	-9	-9	32	32	NM_173846		10	31.658942	31.658942	11	0.476190	0	0	0	1	0	10	11	0.47619
IMPG2	50939	ucsc.edu	37	3	100995550	100995550	+	Silent	SNP	G	G	A			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chr3:100995550G>A	ENST00000193391.7	-	5	728	c.541C>T	c.(541-543)Ctg>Ttg	p.L181L		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	181					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	GGAGAAGACAGTTCAGAGCTA	0.333																																																	0																	57.0	60.0	59.0					3																	100995550		2203	4300	6503	SO:0001819	synonymous_variant	50939							AF173155	AF173155	CCDS2940.1	CCDS2940.1	3q12.2-q12.3	2014-01-28			2014-01-28			ENSG00000081148	ENSG00000081148	ENSG00000081148	ENSG00000081148				18362	18362	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607056	607056						10542133	10542133	Standard	Standard	NM_016247	NM_016247		Approved	IPM200, RP56	uc003duq.2	uc003duq.2	Q9BZV3	Q9BZV3	OTTHUMG00000159091	OTTHUMG00000159091	ENST00000193391.7:c.541C>T	3.37:g.100995550G>A																		A8MWT5|Q9UKD4|Q9UKK5	Silent	SNP	ENST00000193391.7	37		CCDS2940.1																																																																																									0.333	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3			-22	-22	30	30			4			31							4	31	
LIFR	3977	broad.mit.edu	37	5	38496650	38496650	+	Silent	SNP	T	T	C	rs183990367		TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chr5:38496650T>C	ENST00000263409.4	-	13	1881	c.1719A>G	c.(1717-1719)gtA>gtG	p.V573V	LIFR_ENST00000453190.2_Silent_p.V573V|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	573	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)	p.V573V(2)		NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					ATGAACACGATACATTGTAGG	0.383			T	PLAG1	salivary adenoma								T|||	1	0.000199681	0.0	0.0	5008	,	,		24092	0.0		0.001	False		,,,				2504	0.0				Melanoma(13;4 730 6426 9861 34751)	ENST00000263409.4		Dom	yes		5	5p13-p12	3977	leukemia inhibitory factor receptor		E	2	Substitution - coding silent(2)	breast(2)	NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78						c.(1717-1719)gtA>gtG	leukemia inhibitory factor receptor alpha						184.0	157.0	166.0					5																	38496650		2203	4300	6503	SO:0001819	synonymous_variant	3977			positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	g.chr5:38496650T>C	X61615	X61615	CCDS3927.1	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594	ENSG00000113594	ENSG00000113594		"""CD molecules"", ""Fibronectin type III domain containing"""	"""CD molecules"", ""Fibronectin type III domain containing"""	6597	6597	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			151443	151443	"""leukemia inhibitory factor receptor"""		"""leukemia inhibitory factor receptor"""			1915266	1915266	Standard	Standard	NM_001127671	NM_001127671		Approved	CD118	uc003jli.2	uc003jli.2	P42702	P42702	OTTHUMG00000131138	OTTHUMG00000131138	ENST00000263409.4:c.1719A>G	5.37:g.38496650T>C			LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Silent_p.V573V	p.V573V	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN			13	1881	-	all_lung(31;0.00021)		573	Fibronectin type-III 4.	Q6LCD9	Silent	SNP	ENST00000263409.4	37	c.1719A>G	CCDS3927.1																																																																																									0.383	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1		119.398576	-3	-3	78	78	NM_002310		36	119.46869	119.468690	41	0.467532	0	0	0	1	0	36	41	0.467532
MYF6	4618	broad.mit.edu	37	12	81101600	81101600	+	Silent	SNP	T	T	C			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chr12:81101600T>C	ENST00000228641.3	+	1	324	c.102T>C	c.(100-102)taT>taC	p.Y34Y		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	34					muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						CTCCTTTGTATCCAGGGAGTG	0.557																																						ENST00000228641.3											0			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						c.(100-102)taT>taC	myogenic factor 6 (herculin)						87.0	89.0	88.0					12																	81101600		2203	4300	6503	SO:0001819	synonymous_variant	4618			muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity	g.chr12:81101600T>C			CCDS9019.1	CCDS9019.1	12q21	2013-05-21			2013-05-21				ENSG00000111046		ENSG00000111046		"""Basic helix-loop-helix proteins"""	"""Basic helix-loop-helix proteins"""	7566	7566	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""muscle-specific regulatory factor 4"""	"""muscle-specific regulatory factor 4"""	159991	159991						8978788	8978788	Standard	Standard	NM_002469	NM_002469		Approved	MRF4, bHLHc4	uc001szf.2	uc001szf.2	P23409	P23409			ENST00000228641.3:c.102T>C	12.37:g.81101600T>C				p.Y34Y	NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN			1	324	+			34		B2R898|Q53X80|Q6FHI9	Silent	SNP	ENST00000228641.3	37	c.102T>C	CCDS9019.1																																																																																									0.557	MYF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407756.1		-4.053838	9	9	70	70	NM_002469		4	8.715564	8.715564	60	0.062500	0	0	0	1	0	4	60	0.0625
OSBPL1A	114876	broad.mit.edu	37	18	21746564	21746564	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chr18:21746564C>T	ENST00000319481.3	-	26	2844	c.2638G>A	c.(2638-2640)Gcc>Acc	p.A880T	OSBPL1A_ENST00000399443.3_Missense_Mutation_p.A367T|OSBPL1A_ENST00000357041.4_Missense_Mutation_p.A498T	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	880					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TTTTCCATGGCTCTGATGTCA	0.428																																						ENST00000319481.3											0			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(2638-2640)Gcc>Acc	oxysterol binding protein-like 1A						216.0	189.0	198.0					18																	21746564		2203	4300	6503	SO:0001583	missense	114876			cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding	g.chr18:21746564C>T	AF392449, AF274714	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447	ENSG00000141447	ENSG00000141447		"""Oxysterol binding proteins"", ""Ankyrin repeat domain containing"""	"""Oxysterol binding proteins"", ""Ankyrin repeat domain containing"""	16398	16398	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606730	606730	"""oxysterol binding protein-like 1B"""	OSBPL1B	"""oxysterol binding protein-like 1B"""	OSBPL1B		11279184, 10588946	11279184, 10588946	Standard	Standard	NM_080597	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	uc002kve.3	Q9BXW6	Q9BXW6	OTTHUMG00000131944	OTTHUMG00000131944	ENST00000319481.3:c.2638G>A	18.37:g.21746564C>T	ENSP00000320291:p.Ala880Thr		OSBPL1A_ENST00000357041.4_Missense_Mutation_p.A498T|OSBPL1A_ENST00000399443.3_Missense_Mutation_p.A367T	p.A880T	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN			26	2844	-	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)		880		B7Z7D3|Q9BZF5|Q9NW87	Missense_Mutation	SNP	ENST00000319481.3	37	c.2638G>A	CCDS11884.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.577381	0.86645	.	.	ENSG00000141447	ENST00000319481;ENST00000399443;ENST00000357041	T;T;T	0.37235	1.21;1.21;1.21	5.5	5.5	0.81552	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.70011	0.3175	M	0.93939	3.475	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71414	-0.4600	10	0.23302	T	0.38	-16.6041	19.7395	0.96220	0.0:1.0:0.0:0.0	.	880	Q9BXW6	OSBL1_HUMAN	T	880;367;498	ENSP00000320291:A880T;ENSP00000382372:A367T;ENSP00000349545:A498T	ENSP00000320291:A880T	A	-	1	0	0	OSBPL1A	20000562	20000562	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.740000	0.84986	2.737000	0.93849	0.585000	0.79938	GCC		0.428	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1		-13.571071	-44	-44	99	99	NM_080597		4	7.255512	7.255512	89	0.043011	0	0	0	1	0	4	89	0.043011
CWC25	54883	broad.mit.edu	37	17	36971161	36971161	+	Silent	SNP	A	A	T			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chr17:36971161A>T	ENST00000225428.5	-	3	678	c.381T>A	c.(379-381)ctT>ctA	p.L127L	CWC25_ENST00000536127.1_Silent_p.L64L	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN	CWC25 spliceosome-associated protein homolog (S. cerevisiae)	127										central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						CCATGTCAAGAAGGGAATTGG	0.512																																						ENST00000225428.5											0			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						c.(379-381)ctT>ctA	CWC25 spliceosome-associated protein homolog (S. cerevisiae)						59.0	60.0	60.0					17																	36971161		1912	4126	6038	SO:0001819	synonymous_variant	54883						g.chr17:36971161A>T	AK000298	AK000298	CCDS45663.1	CCDS45663.1	17q12	2010-01-26	2010-01-26	2010-01-26	2010-01-26	2010-01-26	2010-01-26		ENSG00000273559		ENSG00000273559				25989	25989	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""coiled-coil domain containing 49"""	CCDC49	"""coiled-coil domain containing 49"""	CCDC49		19941820	19941820	Standard	Standard	NM_017748	NM_017748		Approved	FLJ20291	uc002hqu.4	uc002hqu.4	Q9NXE8	Q9NXE8			ENST00000225428.5:c.381T>A	17.37:g.36971161A>T			CWC25_ENST00000536127.1_Silent_p.L64L	p.L127L	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN			3	678	-					A0JLM3|Q68DK5	Silent	SNP	ENST00000225428.5	37	c.381T>A	CCDS45663.1																																																																																									0.512	CWC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442186.6		14.136289	-20	-20	24	24	NM_017748		6	15.863596	15.863596	20	0.230769	0	0	0	1	0	6	20	0.230769
COG1	9382	broad.mit.edu	37	17	71193207	71193207	+	Missense_Mutation	SNP	C	C	G			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chr17:71193207C>G	ENST00000299886.4	+	3	809	c.729C>G	c.(727-729)aaC>aaG	p.N243K	RP11-143K11.5_ENST00000580671.1_RNA	NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	243					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			AACTTCTCAACCAGCCACACC	0.532																																						ENST00000299886.4											0			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(727-729)aaC>aaG	component of oligomeric golgi complex 1						38.0	42.0	41.0					17																	71193207		2203	4300	6503	SO:0001583	missense	9382			Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding	g.chr17:71193207C>G			CCDS11692.1	CCDS11692.1	17q25.1	2008-05-14	2002-05-28	2002-05-31	2008-05-14	2002-05-28	2002-05-31		ENSG00000166685		ENSG00000166685		"""Components of oligomeric golgi complex"""	"""Components of oligomeric golgi complex"""	6545	6545	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606973	606973	"""low density lipoprotein receptor defect B complementing"""	LDLB	"""low density lipoprotein receptor defect B complementing"""	LDLB		9927668	9927668	Standard	Standard	NM_018714	NM_018714		Approved	KIAA1381	uc002jjg.3	uc002jjg.3	Q8WTW3	Q8WTW3			ENST00000299886.4:c.729C>G	17.37:g.71193207C>G	ENSP00000299886:p.Asn243Lys			p.N243K	NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		3	809	+			243		Q9NPV9|Q9P2G6	Missense_Mutation	SNP	ENST00000299886.4	37	c.729C>G	CCDS11692.1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.462976	0.26248	.	.	ENSG00000166685	ENST00000438720;ENST00000299886	T;T	0.22945	1.93;1.93	5.62	0.745	0.18359	5.62	0.745	0.18359	.	0.097977	0.64402	D	0.000002	T	0.19127	0.0459	L	0.57536	1.79	0.58432	D	0.99999	B;B;B	0.29085	0.232;0.148;0.232	B;B;B	0.32342	0.144;0.075;0.144	T	0.09684	-1.0663	10	0.06099	T	0.92	-13.5482	7.4234	0.27085	0.1166:0.6138:0.0:0.2696	.	243;243;243	E9PBL8;Q8WTW3;Q4G0L8	.;COG1_HUMAN;.	K	243	ENSP00000400111:N243K;ENSP00000299886:N243K	ENSP00000299886:N243K	N	+	3	2	2	COG1	68704802	68704802	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.880000	0.39628	0.305000	0.22832	-0.768000	0.03414	AAC		0.532	COG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441638.1		49.391623	-9	-9	40	40			16	49.823964	49.823964	25	0.390244	0	0	0	1	0	16	25	0.390244
KBTBD4	55709	broad.mit.edu	37	11	47594939	47594939	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chr11:47594939G>A	ENST00000526005.1	-	4	1253	c.1100C>T	c.(1099-1101)gCt>gTt	p.A367V	KBTBD4_ENST00000533290.1_Missense_Mutation_p.A392V|KBTBD4_ENST00000395288.2_Missense_Mutation_p.A367V|NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000430070.2_Missense_Mutation_p.A383V|PTPMT1_ENST00000527079.2_3'UTR			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	367										NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						CCCTGACACAGCCACCTCTAG	0.512																																						ENST00000533290.1											0			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						c.(1174-1176)gCt>gTt	kelch repeat and BTB (POZ) domain containing 4						90.0	89.0	89.0					11																	47594939		2201	4298	6499	SO:0001583	missense	55709						g.chr11:47594939G>A	AF151086	AF151086	CCDS7940.1, CCDS44594.1	CCDS7940.1, CCDS44594.1	11p11.2	2013-01-08	2003-12-12	2003-12-17	2013-01-08	2003-12-12	2003-12-17	ENSG00000123444	ENSG00000123444	ENSG00000123444	ENSG00000123444		"""BTB/POZ domain containing"""	"""BTB/POZ domain containing"""	23761	23761	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""BTB and kelch domain containing 4"""	BKLHD4	"""BTB and kelch domain containing 4"""	BKLHD4		11042152	11042152	Standard	Standard	NM_018095	NM_018095		Approved	FLJ10450, HSPC252	uc001nfz.3	uc001nfz.3	Q9NVX7	Q9NVX7	OTTHUMG00000166894	OTTHUMG00000166894	ENST00000526005.1:c.1100C>T	11.37:g.47594939G>A	ENSP00000433340:p.Ala367Val		PTPMT1_ENST00000527079.2_3'UTR|NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000526005.1_Missense_Mutation_p.A367V|KBTBD4_ENST00000395288.2_Missense_Mutation_p.A367V|KBTBD4_ENST00000430070.2_Missense_Mutation_p.A383V	p.A392V			Q9NVX7	KBTB4_HUMAN			3	1889	-			367		D3DQS1|D3DQS2|Q6IA85|Q9BUC3|Q9NV76	Missense_Mutation	SNP	ENST00000526005.1	37	c.1175C>T	CCDS7940.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.916031	0.92178	.	.	ENSG00000123444	ENST00000526005;ENST00000533290;ENST00000395288;ENST00000430070	T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35	5.8	5.8	0.92144	5.8	5.8	0.92144	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.78997	0.4372	L	0.49778	1.585	0.80722	D	1	D;D;D	0.71674	0.998;0.996;0.993	D;D;D	0.72338	0.941;0.977;0.942	T	0.76825	-0.2816	10	0.45353	T	0.12	-13.8469	20.0479	0.97616	0.0:0.0:1.0:0.0	.	383;367;392	Q9NVX7-2;Q9NVX7;B3KRH9	.;KBTB4_HUMAN;.	V	367;392;367;383	ENSP00000433340:A367V;ENSP00000436713:A392V;ENSP00000378703:A367V;ENSP00000415106:A383V	ENSP00000378703:A367V	A	-	2	0	0	KBTBD4	47551515	47551515	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.736000	0.93811	0.563000	0.77884	GCT		0.512	KBTBD4-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000391763.1		-10.174693	-7	-7	85	85	NM_016506		4	6.526016	6.526016	74	0.051282	0	0	0	1	0	4	74	0.051282
TECTA	7007	broad.mit.edu	37	11	120980087	120980087	+	Missense_Mutation	SNP	G	G	T			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chr11:120980087G>T	ENST00000392793.1	+	4	637	c.366G>T	c.(364-366)ttG>ttT	p.L122F	TECTA_ENST00000264037.2_Missense_Mutation_p.L122F			O75443	TECTA_HUMAN	tectorin alpha	122	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CTGCCATCTTGAAAAGAGCCA	0.488																																						ENST00000392793.1											0			NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(364-366)ttG>ttT	tectorin alpha						102.0	101.0	101.0					11																	120980087		2203	4299	6502	SO:0001583	missense	7007			cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:120980087G>T	AF055136	AF055136	CCDS8434.1	CCDS8434.1	11q22-q24	2008-02-05			2008-02-05			ENSG00000109927	ENSG00000109927	ENSG00000109927	ENSG00000109927				11720	11720	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602574	602574		DFNA12, DFNA8, DFNB21		DFNA12, DFNA8, DFNB21		9503015, 9590290	9503015, 9590290	Standard	Standard	NM_005422	NM_005422		Approved		uc010rzo.2	uc010rzo.2	O75443	O75443	OTTHUMG00000149908	OTTHUMG00000149908	ENST00000392793.1:c.366G>T	11.37:g.120980087G>T	ENSP00000376543:p.Leu122Phe		TECTA_ENST00000264037.2_Missense_Mutation_p.L122F	p.L122F			O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	4	637	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	122	NIDO.		Missense_Mutation	SNP	ENST00000392793.1	37	c.366G>T	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.183077	0.57800	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.51817	0.69;0.69	5.57	4.6	0.57074	5.57	4.6	0.57074	Nidogen, extracellular domain (2);	0.000000	0.64402	D	0.000002	T	0.76673	0.4020	M	0.93375	3.41	0.39632	D	0.970184	D	0.71674	0.998	D	0.83275	0.996	D	0.84265	0.0485	10	0.87932	D	0	.	16.8119	0.85724	0.0:0.2202:0.7798:0.0	.	122	O75443	TECTA_HUMAN	F	122	ENSP00000376543:L122F;ENSP00000264037:L122F	ENSP00000264037:L122F	L	+	3	2	2	TECTA	120485297	120485297	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.782000	0.38654	2.630000	0.89119	0.655000	0.94253	TTG		0.488	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1		-1.108041	-11	-11	39	39	NM_005422		3	6.306865	6.306865	37	0.075000	1	0	1	1	1	3	37	0.075
ACOX1	51	broad.mit.edu	37	17	73942871	73942871	+	Silent	SNP	G	G	A			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chr17:73942871G>A	ENST00000301608.4	-	14	2001	c.1941C>T	c.(1939-1941)caC>caT	p.H647H	ACOX1_ENST00000537812.1_Silent_p.H609H|RP11-552F3.13_ENST00000587348.1_RNA|ACOX1_ENST00000293217.5_Silent_p.H647H	NM_007292.5	NP_009223.2	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	647					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid oxidation (GO:0019395)|generation of precursor metabolites and energy (GO:0006091)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|peroxisome fission (GO:0016559)|positive regulation of cholesterol homeostasis (GO:2000189)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|FAD binding (GO:0071949)|fatty acid binding (GO:0005504)|flavin adenine dinucleotide binding (GO:0050660)|palmitoyl-CoA oxidase activity (GO:0016401)|PDZ domain binding (GO:0030165)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14					Flavin adenine dinucleotide(DB03147)	TGTAAGATTCGTGGACCTGTG	0.378																																						ENST00000537812.1											0			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						c.(1825-1827)caC>caT	acyl-CoA oxidase 1, palmitoyl						89.0	85.0	86.0					17																	73942871		2203	4300	6503	SO:0001819	synonymous_variant	51			fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding	g.chr17:73942871G>A	U03254	U03254	CCDS11734.1, CCDS11735.1	CCDS11734.1, CCDS11735.1	17q25.1	2012-10-04	2010-04-30		2012-10-04	2010-04-30		ENSG00000161533	ENSG00000161533	ENSG00000161533	ENSG00000161533	1.3.3.6			119	119	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609751	609751	"""acyl-Coenzyme A oxidase 1, palmitoyl"""		"""acyl-Coenzyme A oxidase 1, palmitoyl"""			8159712	8159712	Standard	Standard	NM_007292	NM_007292		Approved	PALMCOX	uc002jqe.3	uc002jqe.3	Q15067	Q15067	OTTHUMG00000180027	OTTHUMG00000180027	ENST00000301608.4:c.1941C>T	17.37:g.73942871G>A			ACOX1_ENST00000301608.4_Silent_p.H647H|ACOX1_ENST00000293217.5_Silent_p.H647H	p.H609H	NM_001185039.1	NP_001171968.1	Q15067	ACOX1_HUMAN			14	2475	-			647		A8K6X8|A8KAA0|B4DK61|F5GYQ8|Q12863|Q15068|Q15101|Q16131|Q7Z3W5|Q9UD31	Silent	SNP	ENST00000301608.4	37	c.1827C>T	CCDS11735.1																																																																																									0.378	ACOX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439503.1		7.748682	-9	-9	35	35			5	12.761347	12.761347	33	0.131579	0	0	0	1	0	5	33	0.131579
STAB1	23166	broad.mit.edu	37	3	52537488	52537488	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chr3:52537488C>T	ENST00000321725.6	+	8	899	c.823C>T	c.(823-825)Cca>Tca	p.P275S		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	275					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCCCAAGGACCCATGCACTGA	0.627																																						ENST00000321725.6											0			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(823-825)Cca>Tca	stabilin 1						86.0	81.0	82.0					3																	52537488		2203	4300	6503	SO:0001583	missense	23166			cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52537488C>T	AJ275213	AJ275213	CCDS33768.1	CCDS33768.1	3p21.31	2008-07-18			2008-07-18			ENSG00000010327	ENSG00000010327	ENSG00000010327	ENSG00000010327				18628	18628	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560	608560						11829752, 12077138	11829752, 12077138	Standard	Standard	XM_005264973	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	uc003dej.3	Q9NY15	Q9NY15	OTTHUMG00000158574	OTTHUMG00000158574	ENST00000321725.6:c.823C>T	3.37:g.52537488C>T	ENSP00000312946:p.Pro275Ser			p.P275S	NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	8	899	+			275		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.823C>T	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	C	19.45	3.829459	0.71258	.	.	ENSG00000010327	ENST00000321725	T	0.10860	2.83	5.58	4.71	0.59529	5.58	4.71	0.59529	.	0.131674	0.51477	N	0.000088	T	0.24314	0.0589	L	0.56340	1.77	0.46521	D	0.999085	D;D	0.71674	0.998;0.996	D;P	0.67103	0.949;0.856	T	0.00624	-1.1639	10	0.52906	T	0.07	.	9.9988	0.41916	0.0:0.9078:0.0:0.0922	.	275;275	Q9NY15;Q9NY15-2	STAB1_HUMAN;.	S	275	ENSP00000312946:P275S	ENSP00000312946:P275S	P	+	1	0	0	STAB1	52512528	52512528	1.000000	0.71417	0.977000	0.42913	0.501000	0.33797	3.763000	0.55257	1.367000	0.46095	0.655000	0.94253	CCA		0.627	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2		3.203404	-6	-6	34	34	NM_015136		3	7.743523	7.743523	26	0.103448	0	0	0	1	0	3	26	0.103448
CPEB3	22849	broad.mit.edu	37	10	93841258	93841258	+	Splice_Site	SNP	A	A	G			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chr10:93841258A>G	ENST00000265997.4	-	9	1860	c.1688T>C	c.(1687-1689)gTt>gCt	p.V563A	CPEB3_ENST00000412050.4_Splice_Site_p.V549A	NM_014912.4	NP_055727.3	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	563	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA destabilization (GO:0061158)|cellular response to amino acid stimulus (GO:0071230)|long-term memory (GO:0007616)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation (GO:0017148)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of mRNA polyadenylation (GO:1900365)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|regulation of dendritic spine development (GO:0060998)|regulation of synaptic plasticity (GO:0048167)|translation (GO:0006412)	apical dendrite (GO:0097440)|CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuron projection (GO:0043005)|nucleus (GO:0005634)|synapse (GO:0045202)	mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|translation factor activity, nucleic acid binding (GO:0008135)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				TGCCAGTTCAACTGCAAAAAA	0.438																																						ENST00000412050.4											0			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18						c.(1645-1647)gTt>gCt	cytoplasmic polyadenylation element binding protein 3						54.0	48.0	50.0					10																	93841258		2203	4300	6503	SO:0001630	splice_region_variant	22849					nucleotide binding|RNA binding	g.chr10:93841258A>G	AB023157	AB023157	CCDS31246.1, CCDS53553.1	CCDS31246.1, CCDS53553.1	10q23.33	2013-02-12			2013-02-12			ENSG00000107864	ENSG00000107864	ENSG00000107864	ENSG00000107864		"""RNA binding motif (RRM) containing"""	"""RNA binding motif (RRM) containing"""	21746	21746	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610606	610606						10231032, 12672660	10231032, 12672660	Standard	Standard	NM_014912	NM_014912		Approved	KIAA0940	uc001khw.2	uc001khw.2	Q8NE35	Q8NE35	OTTHUMG00000018756	OTTHUMG00000018756	ENST00000265997.4:c.1688-1T>C	10.37:g.93841258A>G			CPEB3_ENST00000265997.4_Splice_Site_p.V563A	p.V549A	NM_001178137.1	NP_001171608.1	Q8NE35	CPEB3_HUMAN			9	1734	-		Colorectal(252;0.0869)	563	RRM 2.	Q5T389|Q9NQJ7|Q9Y2E9	Splice_Site	SNP	ENST00000265997.4	37	c.1646T>C	CCDS31246.1	.	.	.	.	.	.	.	.	.	.	A	16.37	3.102857	0.56183	.	.	ENSG00000107864	ENST00000394210;ENST00000412050;ENST00000265997	T;T	0.21031	2.03;2.03	5.68	5.68	0.88126	5.68	5.68	0.88126	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.16769	0.0403	N	0.19112	0.55	0.80722	D	1	B;B;P	0.35872	0.004;0.39;0.525	B;B;B	0.37780	0.008;0.132;0.258	T	0.08126	-1.0737	10	0.27082	T	0.32	.	15.9299	0.79651	1.0:0.0:0.0:0.0	.	563;549;549	Q8NE35;Q5QP71;Q8NE35-2	CPEB3_HUMAN;.;.	A	549;549;563	ENSP00000398310:V549A;ENSP00000265997:V563A	ENSP00000265997:V563A	V	-	2	0	0	CPEB3	93831238	93831238	1.000000	0.71417	1.000000	0.80357	0.659000	0.38960	9.339000	0.96797	2.162000	0.67917	0.460000	0.39030	GTT		0.438	CPEB3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049387.2		47.622264	-12	-12	40	40	NM_014912	Missense_Mutation	15	47.724439	47.724439	19	0.441176	0	0	0	1	0	15	19	0.441176
GAGE2A	729447	broad.mit.edu	37	X	49355851	49355851	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chrX:49355851C>T	ENST00000362097.1	+	3	216	c.133C>T	c.(133-135)Cca>Tca	p.P45S		NM_001127212.1	NP_001120684.1	Q6NT46	GAG2A_HUMAN	G antigen 2A	45										endometrium(4)	4	Ovarian(276;0.236)					AGAAGGGGAACCAGCAACTCA	0.512																																						ENST00000362097.1											0			endometrium(4)	4						c.(133-135)Cca>Tca	G antigen 2A																																			SO:0001583	missense	729447						g.chrX:49355851C>T	U19143	U19143	CCDS48114.1	CCDS48114.1	Xp11.23	2009-03-17	2007-07-23	2007-07-23	2009-03-17	2007-07-23	2007-07-23	ENSG00000189064	ENSG00000189064	ENSG00000189064	ENSG00000189064				4099	4099	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""cancer/testis antigen family 4, member 2"""	"""cancer/testis antigen family 4, member 2"""	300720	300720	"""G antigen 2"""	GAGE2	"""G antigen 2"""	GAGE2		7544395	7544395	Standard	Standard	NM_001127212	NM_001127212		Approved	CT4.2			Q6NT46	Q6NT46	OTTHUMG00000024143	OTTHUMG00000024143	ENST00000362097.1:c.133C>T	X.37:g.49355851C>T	ENSP00000355421:p.Pro45Ser			p.P45S	NM_001127212.1	NP_001120684.1					3	216	+	Ovarian(276;0.236)					Missense_Mutation	SNP	ENST00000362097.1	37	c.133C>T	CCDS48114.1	.	.	.	.	.	.	.	.	.	.	.	11.00	1.510698	0.27036	.	.	ENSG00000189064	ENST00000362097	T	0.13901	2.55	1.06	0.14	0.14804	1.06	0.14	0.14804	.	.	.	.	.	T	0.29158	0.0725	M	0.75085	2.285	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.10636	-1.0621	9	0.45353	T	0.12	.	3.2145	0.06694	0.0:0.6811:0.0:0.3189	.	45	Q6NT46	GAG2A_HUMAN	S	45	ENSP00000355421:P45S	ENSP00000355421:P45S	P	+	1	0	0	GAGE2A	49242795	49242795	0.000000	0.05858	0.002000	0.10522	0.259000	0.26198	0.150000	0.16263	-0.006000	0.14370	0.263000	0.19301	CCA		0.512	GAGE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060827.3		-78.045419	434	434	929	929			20	38.738691	38.738691	490	0.039216	0	0	0	1	0	20	490	0.039216
TTN	7273	broad.mit.edu	37	2	179446651	179446651	+	Missense_Mutation	SNP	A	A	C			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chr2:179446651A>C	ENST00000591111.1	-	265	61746	c.61522T>G	c.(61522-61524)Tat>Gat	p.Y20508D	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Y13209D|TTN_ENST00000460472.2_Missense_Mutation_p.Y13084D|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.Y22149D|TTN_ENST00000342992.6_Missense_Mutation_p.Y19581D|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Y13276D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20508	Fibronectin type-III 48. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCCGAGCATAAGCGGCCTTG	0.443																																						ENST00000589042.1											0			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(66445-66447)Tat>Gat	titin						74.0	71.0	72.0					2																	179446651		1930	4133	6063	SO:0001583	missense	7273					ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179446651A>C	X90568	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	12403	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			188840	188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	2129545, 10051295	Standard	Standard	NM_003319	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	uc031rqd.1	Q8WZ42	Q8WZ42	OTTHUMG00000154448	OTTHUMG00000154448	ENST00000591111.1:c.61522T>G	2.37:g.179446651A>C	ENSP00000465570:p.Tyr20508Asp		TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Y13209D|TTN_ENST00000460472.2_Missense_Mutation_p.Y13084D|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Y13276D|TTN_ENST00000591111.1_Missense_Mutation_p.Y20508D|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Y19581D|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA	p.Y22149D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		315	66669	-			20508	Fibronectin type-III 60.	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.66445T>G		.	.	.	.	.	.	.	.	.	.	A	11.37	1.618337	0.28801	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.63096	-0.02;0.18;0.14;0.14	5.59	5.59	0.84812	5.59	5.59	0.84812	Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.44993	0.1320	N	0.08118	0	0.33750	D	0.620507	P;P;D;D	0.56521	0.947;0.947;0.976;0.976	B;B;P;P	0.44597	0.355;0.355;0.454;0.454	T	0.62320	-0.6879	9	0.87932	D	0	.	10.9238	0.47180	0.8601:0.0:0.0:0.1399	.	13084;13209;13276;20508	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	D	19581;13084;13276;13209;13082	ENSP00000343764:Y19581D;ENSP00000434586:Y13084D;ENSP00000340554:Y13276D;ENSP00000352154:Y13209D	ENSP00000340554:Y13276D	Y	-	1	0	0	TTN	179154897	179154897	0.999000	0.42202	0.923000	0.36655	0.918000	0.54935	3.771000	0.55318	2.131000	0.65755	0.533000	0.62120	TAT		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		52.669268	9	9	56	56	NM_133378		17	53.001496	53.001496	25	0.404762	0	0	0	1	0	17	25	0.404762
KRT19P2	160313	broad.mit.edu	37	12	95228505	95228505	+	RNA	SNP	G	G	T			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chr12:95228505G>T	ENST00000405395.2	+	0	276				MIR492_ENST00000385303.1_RNA	NR_036685.1				keratin 19 pseudogene 2																		TGAGTGACAGGCAAAGCCAAT	0.552																																						ENST00000405395.2											0																																																0						g.chr12:95228505G>T					12q22	2013-06-25			2013-06-25			ENSG00000216306	ENSG00000216306	ENSG00000216306	ENSG00000216306				33423	33423	pseudogene	pseudogene	pseudogene	pseudogene					"""keratin 19 pseudogene 5"""	KRT19P5	"""keratin 19 pseudogene 5"""	KRT19P5				Standard	Standard	NR_036685	NR_036685		Approved		uc001tdk.2	uc001tdk.2			OTTHUMG00000170700	OTTHUMG00000170700		12.37:g.95228505G>T					NR_036685.1						0	276	+						RNA	SNP	ENST00000405395.2	37																																																																																											0.552	KRT19P2-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000410053.1		15.673604	0	0	9	9	NT_019546		5	15.746171	15.746171	7	0.416667	1	0	0.000602214	1	0.000616903	5	7	0.416667
KCNU1	157855	broad.mit.edu	37	8	36692332	36692332	+	Missense_Mutation	SNP	T	T	C			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chr8:36692332T>C	ENST00000399881.3	+	12	1278	c.1241T>C	c.(1240-1242)aTa>aCa	p.I414T		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	414	RCK N-terminal.				multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TGCCTGATTATAGCCAATCCT	0.418																																						ENST00000399881.3											0			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57						c.(1240-1242)aTa>aCa	potassium channel, subfamily U, member 1						123.0	120.0	121.0					8																	36692332		1883	4121	6004	SO:0001583	missense	157855				voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36692332T>C	BC028701	BC028701	CCDS55220.1	CCDS55220.1	8p11.2	2012-07-05			2012-07-05				ENSG00000215262		ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	18867	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			615215	615215						16382103	16382103	Standard	Standard	NM_001031836	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	uc010lvw.3	A8MYU2	A8MYU2			ENST00000399881.3:c.1241T>C	8.37:g.36692332T>C	ENSP00000382770:p.Ile414Thr			p.I414T	NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	12	1278	+			414	RCK N-terminal.		Missense_Mutation	SNP	ENST00000399881.3	37	c.1241T>C	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	T	14.77	2.635534	0.47049	.	.	ENSG00000215262	ENST00000399881	T	0.68181	-0.31	5.9	5.9	0.94986	5.9	5.9	0.94986	Potassium channel, calcium-activated, BK, alpha subunit (1);NAD(P)-binding domain (1);	0.444337	0.15220	U	0.274002	T	0.66317	0.2777	L	0.44542	1.39	0.80722	D	1	D	0.57899	0.981	P	0.46479	0.518	T	0.69558	-0.5113	10	0.87932	D	0	2.3529	15.1562	0.72743	0.0:0.0:0.0:1.0	.	414	A8MYU2	KCNU1_HUMAN	T	414	ENSP00000382770:I414T	ENSP00000382770:I414T	I	+	2	0	0	KCNU1	36811490	36811490	1.000000	0.71417	0.933000	0.37362	0.379000	0.30106	7.261000	0.78400	2.251000	0.74343	0.528000	0.53228	ATA		0.418	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1		12.363323	-2	-2	19	19	NM_001031836		5	13.865343	13.865343	17	0.227273	0	0	0	1	0	5	17	0.227273
C14orf39	317761	broad.mit.edu	37	14	60933673	60933673	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chr14:60933673C>T	ENST00000321731.3	-	10	1016	c.857G>A	c.(856-858)aGa>aAa	p.R286K		NM_174978.2	NP_777638	Q8N1H7	S6OS1_HUMAN	chromosome 14 open reading frame 39	286					multicellular organismal development (GO:0007275)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		CTTTATTGGTCTTACTAATTT	0.289																																						ENST00000321731.3											0			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(856-858)aGa>aAa	chromosome 14 open reading frame 39						73.0	73.0	73.0					14																	60933673		2201	4289	6490	SO:0001583	missense	317761						g.chr14:60933673C>T	AK098187	AK098187	CCDS9746.1	CCDS9746.1	14q23.1	2012-11-05	2012-11-05	2012-11-05	2012-11-05	2012-11-05	2012-11-05	ENSG00000179008	ENSG00000179008	ENSG00000179008	ENSG00000179008				19849	19849	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_174978	NM_174978		Approved	SIX6OS1	uc001xez.4	uc001xez.4	Q8N1H7	Q8N1H7	OTTHUMG00000140332	OTTHUMG00000140332	ENST00000321731.3:c.857G>A	14.37:g.60933673C>T	ENSP00000324920:p.Arg286Lys			p.R286K	NM_174978.2	NP_777638	Q08AQ4	Q08AQ4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0448)	10	1016	-			286		Q08AQ4	Missense_Mutation	SNP	ENST00000321731.3	37	c.857G>A	CCDS9746.1	.	.	.	.	.	.	.	.	.	.	c	3.836	-0.034856	0.07543	.	.	ENSG00000179008	ENST00000321731	T	0.23147	1.92	5.29	1.19	0.21007	5.29	1.19	0.21007	.	0.372941	0.26832	N	0.022280	T	0.11410	0.0278	N	0.20401	0.57	0.09310	N	1	B	0.11235	0.004	B	0.13407	0.009	T	0.37267	-0.9713	10	0.02654	T	1	-10.7321	7.5133	0.27585	0.0:0.6202:0.0:0.3798	.	286	Q8N1H7	S6OS1_HUMAN	K	286	ENSP00000324920:R286K	ENSP00000324920:R286K	R	-	2	0	0	C14orf39	60003426	60003426	0.957000	0.32711	0.019000	0.16419	0.078000	0.17371	0.704000	0.25661	0.314000	0.23086	-0.244000	0.11960	AGA		0.289	C14orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276948.1		0.361762	-5	-5	28	28	NM_174978		4	8.57147	8.571470	43	0.085106	0	0	0	1	0	4	43	0.085106
BMP7	655	broad.mit.edu	37	20	55758828	55758828	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chr20:55758828C>T	ENST00000395863.3	-	4	1413	c.908G>A	c.(907-909)cGc>cAc	p.R303H	BMP7_ENST00000450594.2_Missense_Mutation_p.R303H|BMP7_ENST00000395864.3_Intron|BMP7_ENST00000460817.1_5'UTR	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	303					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of an epithelial tube (GO:0048754)|cartilage development (GO:0051216)|cellular response to hypoxia (GO:0071456)|dendrite development (GO:0016358)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint morphogenesis (GO:0060272)|epithelial cell differentiation (GO:0030855)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|mesenchymal cell differentiation (GO:0048762)|mesenchyme development (GO:0060485)|mesoderm formation (GO:0001707)|mesonephros development (GO:0001823)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephros development (GO:0001656)|monocyte aggregation (GO:0070487)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell apoptotic process involved in nephron morphogenesis (GO:0072040)|negative regulation of mitosis (GO:0045839)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of dendrite development (GO:1900006)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of removal of superoxide radicals (GO:2000121)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|steroid hormone mediated signaling pathway (GO:0043401)|ureteric bud development (GO:0001657)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	heparin binding (GO:0008201)			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			CGTCTTGGAGCGGTTCTGGCT	0.622																																						ENST00000395863.3											0			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20						c.(907-909)cGc>cAc	bone morphogenetic protein 7						87.0	76.0	80.0					20																	55758828		2203	4300	6503	SO:0001583	missense	655			BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity	g.chr20:55758828C>T			CCDS13455.1	CCDS13455.1	20q13	2014-01-30	2008-05-22		2014-01-30	2008-05-22		ENSG00000101144	ENSG00000101144	ENSG00000101144	ENSG00000101144		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1074	1074	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""osteogenic protein 1"""	"""osteogenic protein 1"""	112267	112267						1427904	1427904	Standard	Standard	NM_001719	NM_001719		Approved	OP-1	uc010gip.1	uc010gip.1	P18075	P18075	OTTHUMG00000032812	OTTHUMG00000032812	ENST00000395863.3:c.908G>A	20.37:g.55758828C>T	ENSP00000379204:p.Arg303His		BMP7_ENST00000450594.2_Missense_Mutation_p.R303H|BMP7_ENST00000460817.1_5'UTR|BMP7_ENST00000395864.3_Intron	p.R303H	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)		4	1413	-	all_lung(29;0.0133)|Melanoma(10;0.242)		303		Q9H512|Q9NTQ7	Missense_Mutation	SNP	ENST00000395863.3	37	c.908G>A	CCDS13455.1	.	.	.	.	.	.	.	.	.	.	C	35	5.583316	0.96578	.	.	ENSG00000101144	ENST00000395863;ENST00000450594	T;D	0.82619	-1.13;-1.63	5.48	5.48	0.80851	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.89653	0.6777	L	0.55990	1.75	0.80722	D	1	D;D	0.89917	1.0;1.0	P;D	0.79784	0.899;0.993	D	0.90031	0.4135	10	0.66056	D	0.02	.	19.3542	0.94404	0.0:1.0:0.0:0.0	.	303;303	P18075;B1AL00	BMP7_HUMAN;.	H	303	ENSP00000379204:R303H;ENSP00000398687:R303H	ENSP00000379204:R303H	R	-	2	0	0	BMP7	55192235	55192235	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.880000	0.69698	2.559000	0.86315	0.643000	0.83706	CGC		0.622	BMP7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079831.2		-6.889432	-16	-16	100	100			5	9.356997	9.356997	76	0.061728	0	0	0	1	0	5	76	0.061728
QKI	9444	broad.mit.edu	37	6	163899930	163899930	+	Splice_Site	SNP	T	T	A			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chr6:163899930T>A	ENST00000361752.3	+	3	953		c.e3+2		QKI_ENST00000424802.3_Splice_Site|QKI_ENST00000275262.7_Splice_Site|QKI_ENST00000361195.2_Splice_Site|QKI_ENST00000453779.2_Splice_Site|QKI_ENST00000392127.2_Splice_Site	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding						long-chain fatty acid biosynthetic process (GO:0042759)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|muscle cell differentiation (GO:0042692)|myelination (GO:0042552)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|spermatid development (GO:0007286)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		AAAAAAAAGGTAAGTCCTTGA	0.348																																						ENST00000361752.3											0			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27						c.e3+2	QKI, KH domain containing, RNA binding						76.0	77.0	77.0					6																	163899930		2203	4300	6503	SO:0001630	splice_region_variant	9444			mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding	g.chr6:163899930T>A	AB067798	AB067798	CCDS5285.1, CCDS5286.1, CCDS5287.1, CCDS43525.1, CCDS75546.1	CCDS5285.1, CCDS5286.1, CCDS5287.1, CCDS43525.1, CCDS75546.1	6q26	2011-09-12	2011-09-12		2011-09-12	2011-09-12		ENSG00000112531	ENSG00000112531	ENSG00000112531	ENSG00000112531				21100	21100	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609590	609590	"""quaking homolog, KH domain RNA binding (mouse)"""		"""quaking homolog, KH domain RNA binding (mouse)"""			10535969	10535969	Standard	Standard	NM_006775	NM_006775		Approved	QK3	uc003qui.3	uc003qui.3	Q96PU8	Q96PU8	OTTHUMG00000015977	OTTHUMG00000015977	ENST00000361752.3:c.402+2T>A	6.37:g.163899930T>A			QKI_ENST00000453779.2_Splice_Site|QKI_ENST00000392127.2_Splice_Site|QKI_ENST00000275262.7_Splice_Site|QKI_ENST00000424802.3_Splice_Site|QKI_ENST00000361195.2_Splice_Site		NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)	3	953	+		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)			Q2I375|Q5MJQ1|Q969L9|Q96EJ3|Q96KA3|Q96PU6|Q96PU7|Q9P0X6|Q9P0X7|Q9P0X8|Q9P0X9|Q9P0Y0|Q9P0Y1	Splice_Site	SNP	ENST00000361752.3	37		CCDS5285.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.515880	0.85495	.	.	ENSG00000112531	ENST00000453779;ENST00000275262;ENST00000392127;ENST00000361752;ENST00000361195;ENST00000424802;ENST00000544436;ENST00000537041;ENST00000544823	.	.	.	5.45	5.45	0.79879	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.526	0.75905	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	QKI	163819920	163819920	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.568000	0.82369	2.071000	0.62044	0.482000	0.46254	.		0.348	QKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043016.2		17.173923	1	1	62	62	NM_006775	Intron	14	32.8058	32.805800	99	0.123894	0	0	0	1	0	14	99	0.123894
VAV3	10451	broad.mit.edu	37	1	108116776	108116776	+	Missense_Mutation	SNP	A	A	T			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chr1:108116776A>T	ENST00000370056.4	-	26	2669	c.2395T>A	c.(2395-2397)Ttc>Atc	p.F799I	VAV3_ENST00000415432.2_Missense_Mutation_p.F239I|VAV3_ENST00000527011.1_Missense_Mutation_p.F827I|VAV3_ENST00000544443.1_Missense_Mutation_p.F203I|VAV3_ENST00000343258.4_5'UTR	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	799	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.|Sufficient for interaction with ROS1.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CTTGCACAGAAGTCATACCGA	0.428																																						ENST00000370056.4											0			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58						c.(2395-2397)Ttc>Atc	vav 3 guanine nucleotide exchange factor						207.0	181.0	190.0					1																	108116776		2203	4300	6503	SO:0001583	missense	10451			angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr1:108116776A>T	AF118886	AF118886	CCDS785.1, CCDS44181.1	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215	ENSG00000134215	ENSG00000134215		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12659	12659	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605541	605541	"""vav 3 oncogene"""		"""vav 3 oncogene"""					Standard	Standard	NM_001079874	NM_001079874		Approved		uc001dvk.1	uc001dvk.1	Q9UKW4	Q9UKW4	OTTHUMG00000010995	OTTHUMG00000010995	ENST00000370056.4:c.2395T>A	1.37:g.108116776A>T	ENSP00000359073:p.Phe799Ile		VAV3_ENST00000415432.2_Missense_Mutation_p.F239I|VAV3_ENST00000527011.1_Missense_Mutation_p.F827I|VAV3_ENST00000544443.1_Missense_Mutation_p.F203I|VAV3_ENST00000343258.4_5'UTR	p.F799I	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)	26	2669	-		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)	799	SH3 2.	B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Missense_Mutation	SNP	ENST00000370056.4	37	c.2395T>A	CCDS785.1	.	.	.	.	.	.	.	.	.	.	A	34	5.356365	0.95854	.	.	ENSG00000134215	ENST00000370056;ENST00000527011;ENST00000544443;ENST00000415432	T;T;T;T	0.57273	0.41;2.06;0.41;0.41	6.03	6.03	0.97812	6.03	6.03	0.97812	Src homology-3 domain (4);Variant SH3 (1);	0.000000	0.85682	D	0.000000	T	0.72534	0.3472	M	0.86573	2.825	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.996;0.996;0.99	T	0.78471	-0.2191	10	0.87932	D	0	.	16.5655	0.84588	1.0:0.0:0.0:0.0	.	827;231;799;239	E9PQ97;B7Z3Z5;Q9UKW4;Q9UKW4-3	.;.;VAV3_HUMAN;.	I	799;827;203;239	ENSP00000359073:F799I;ENSP00000432540:F827I;ENSP00000446404:F203I;ENSP00000394897:F239I	ENSP00000359073:F799I	F	-	1	0	0	VAV3	107918299	107918299	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	9.339000	0.96797	2.302000	0.77476	0.533000	0.62120	TTC		0.428	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2		72.084150	-32	-32	70	70	NM_006113		24	72.867536	72.867536	39	0.380952	0	0	0	1	0	24	39	0.380952
RAB20	55647	broad.mit.edu	37	13	111176287	111176287	+	Silent	SNP	T	T	G			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chr13:111176287T>G	ENST00000267328.3	-	2	643	c.430A>C	c.(430-432)Agg>Cgg	p.R144R		NM_017817.1	NP_060287.1	Q9NX57	RAB20_HUMAN	RAB20, member RAS oncogene family	144					phagosome acidification (GO:0090383)|phagosome-lysosome fusion (GO:0090385)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)	GTP binding (GO:0005525)			endometrium(2)|large_intestine(2)|lung(3)	7	all_cancers(4;1.54e-11)|all_epithelial(4;1.22e-06)|all_lung(23;1e-05)|Lung NSC(43;0.000453)|Colorectal(4;0.00323)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.197)			TTAGGTGCCCTTGGGGAGACA	0.592																																						ENST00000267328.3											0			endometrium(2)|large_intestine(2)|lung(3)	7						c.(430-432)Agg>Cgg	RAB20, member RAS oncogene family						63.0	60.0	61.0					13																	111176287		2203	4300	6503	SO:0001819	synonymous_variant	55647			protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding	g.chr13:111176287T>G	AK000436	AK000436	CCDS9512.1	CCDS9512.1	13q34	2008-07-18			2008-07-18			ENSG00000139832	ENSG00000139832	ENSG00000139832	ENSG00000139832		"""RAB, member RAS oncogene"""	"""RAB, member RAS oncogene"""	18260	18260	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										11697911	11697911	Standard	Standard	NM_017817	NM_017817		Approved	FLJ20429	uc001vqy.3	uc001vqy.3	Q9NX57	Q9NX57	OTTHUMG00000017343	OTTHUMG00000017343	ENST00000267328.3:c.430A>C	13.37:g.111176287T>G				p.R144R	NM_017817.1	NP_060287.1	Q9NX57	RAB20_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.197)		2	643	-	all_cancers(4;1.54e-11)|all_epithelial(4;1.22e-06)|all_lung(23;1e-05)|Lung NSC(43;0.000453)|Colorectal(4;0.00323)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		144		Q5T9X5|Q9NX49	Silent	SNP	ENST00000267328.3	37	c.430A>C	CCDS9512.1																																																																																									0.592	RAB20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045760.2		63.610799	1	1	71	71	NM_017817		22	63.950602	63.950602	31	0.415094	0	0	0	1	0	22	31	0.415094
CR1L	1379	broad.mit.edu	37	1	207850747	207850747	+	Silent	SNP	C	C	T			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chr1:207850747C>T	ENST00000508064.2	+	2	171	c.111C>T	c.(109-111)gtC>gtT	p.V37V	CR1L_ENST00000530905.1_3'UTR	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	37	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|receptor complex (GO:0043235)				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AATGCAATGTCCCGGAATGGC	0.398																																						ENST00000508064.2											0			endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(109-111)gtC>gtT	complement component (3b/4b) receptor 1-like						126.0	117.0	120.0					1																	207850747		1891	4100	5991	SO:0001819	synonymous_variant	1379				cytoplasm|extracellular region|membrane		g.chr1:207850747C>T	AY114160	AY114160	CCDS44310.1	CCDS44310.1	1q32.1	2008-02-05			2008-02-05			ENSG00000197721	ENSG00000197721	ENSG00000197721	ENSG00000197721		"""Complement system"""	"""Complement system"""	2335	2335	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605886	605886						2295627	2295627	Standard	Standard	NM_175710	NM_175710		Approved		uc001hga.4	uc001hga.4	Q2VPA4	Q2VPA4	OTTHUMG00000036354	OTTHUMG00000036354	ENST00000508064.2:c.111C>T	1.37:g.207850747C>T			CR1L_ENST00000530905.1_3'UTR	p.V37V	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN			2	171	+			37	Sushi 1.	Q32MC9|Q8NEU7	Silent	SNP	ENST00000508064.2	37	c.111C>T	CCDS44310.1																																																																																									0.398	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390247.1		129.376177	-36	-36	78	78	XM_114735		42	129.412995	129.412995	46	0.477273	0	0	0	1	0	42	46	0.477273
PVR	5817	broad.mit.edu	37	19	45147435	45147435	+	Frame_Shift_Del	DEL	G	G	-			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chr19:45147435delG	ENST00000425690.3	+	1	338	c.39delG	c.(37-39)ctgfs	p.L13fs	PVR_ENST00000403059.4_Frame_Shift_Del_p.L13fs|PVR_ENST00000344956.4_Frame_Shift_Del_p.L13fs|CTB-171A8.1_ENST00000590796.1_RNA|PVR_ENST00000406449.4_Frame_Shift_Del_p.L13fs	NM_006505.3	NP_006496.3	P15151	PVR_HUMAN	poliovirus receptor	13					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|receptor activity (GO:0004872)			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		CGCTGCTGCTGGTGGCGCTAC	0.751																																						ENST00000425690.3											0			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						c.(37-39)ctgfs	poliovirus receptor						7.0	9.0	8.0					19																	45147435		2039	4002	6041	SO:0001589	frameshift_variant	5817			adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity	g.chr19:45147435delG	BC015542	BC015542	CCDS12640.1, CCDS46105.1, CCDS46106.1, CCDS46107.1	CCDS12640.1, CCDS46105.1, CCDS46106.1, CCDS46107.1	19q13.2	2013-01-29			2013-01-29			ENSG00000073008	ENSG00000073008	ENSG00000073008	ENSG00000073008		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9705	9705	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""nectin-like 5"""	"""nectin-like 5"""	173850	173850		PVS		PVS		2170108	2170108	Standard	Standard	XM_005259120	XM_005259120		Approved	CD155, HVED, Necl-5, NECL5, Tage4	uc002ozm.3	uc002ozm.3	P15151	P15151	OTTHUMG00000151527	OTTHUMG00000151527	ENST00000425690.3:c.39delG	19.37:g.45147435delG	ENSP00000402060:p.Leu13fs		PVR_ENST00000406449.4_Frame_Shift_Del_p.L13fs|PVR_ENST00000344956.4_Frame_Shift_Del_p.L13fs|CTB-171A8.1_ENST00000590796.1_RNA|PVR_ENST00000403059.4_Frame_Shift_Del_p.L13fs	p.L13fs	NM_006505.3	NP_006496.3	P15151	PVR_HUMAN		Epithelial(262;0.000601)	1	338	+	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)	13		B4DTS9|P15152|Q15267|Q15268|Q96BJ1	Frame_Shift_Del	DEL	ENST00000425690.3	37	c.39delG	CCDS12640.1																																																																																									0.751	PVR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323017.2	.	.	3	3	4	4	NM_006505		2			4	0.33						2	4	0.33
