#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SH2D6	284948	broad.mit.edu	37	2	85663607	85663607	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13S-01A-11D-A10S-08	TCGA-DJ-A13S-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b564c58-40b0-4d9b-a372-12249a31a765	22668d43-8a18-4cd4-ad8e-ec4e37ce4a38	g.chr2:85663607G>A	ENST00000340326.2	+	4	591	c.430G>A	c.(430-432)Gcc>Acc	p.A144T	SH2D6_ENST00000481426.2_3'UTR|Y_RNA_ENST00000384478.1_RNA|SH2D6_ENST00000389938.2_Missense_Mutation_p.A112T	NM_198482.1	NP_940884.1	Q7Z4S9	SH2D6_HUMAN	SH2 domain containing 6	144	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.									central_nervous_system(1)|lung(2)	3						CTCCGTGGCGGCCATGGTCCA	0.632																																						uc002spq.3																			0				central_nervous_system(1)|lung(2)	3						c.(430-432)Gcc>Acc		Homo sapiens SH2 domain containing 6 (SH2D6), mRNA.							62.0	55.0	57.0					2																	85663607		2203	4300	6503	SO:0001583	missense	284948							g.chr2:85663607G>A	AF450483	CCDS1976.1	2p11.2	2013-02-14			ENSG00000152292	ENSG00000152292		"""SH2 domain containing"""	30439	protein-coding gene	gene with protein product						12477932	Standard	NM_198482		Approved	FLJ35993	uc002spq.3	Q7Z4S9	OTTHUMG00000130176	ENST00000340326.2:c.430G>A	2.37:g.85663607G>A	ENSP00000341867:p.Ala144Thr					SH2D6_uc002spo.3_Non-coding_Transcript|SH2D6_uc002spp.3_Non-coding_Transcript	p.A144T	NM_198482	NP_940884	Q7Z4S9	SH2D6_HUMAN			3	591	+			144			SH2.		A6ND14|Q6R306	Missense_Mutation	SNP	ENST00000340326.2	37	c.430G>A	CCDS1976.1	.	.	.	.	.	.	.	.	.	.	G	8.039	0.763534	0.15914	.	.	ENSG00000152292	ENST00000389938;ENST00000340326	D;D	0.92805	-2.41;-3.11	5.25	2.46	0.29980	SH2 motif (4);	0.204092	0.31709	N	0.007183	D	0.88040	0.6330	L	0.49455	1.56	0.21915	N	0.999479	B	0.12630	0.006	B	0.14578	0.011	T	0.77125	-0.2703	10	0.46703	T	0.11	-14.1996	10.2025	0.43094	0.2443:0.0:0.7557:0.0	.	144	Q7Z4S9	SH2D6_HUMAN	T	112;144	ENSP00000374588:A112T;ENSP00000341867:A144T	ENSP00000341867:A144T	A	+	1	0	SH2D6	85517118	0.770000	0.28543	0.148000	0.22405	0.068000	0.16541	0.868000	0.27982	0.065000	0.16485	-1.134000	0.01955	GCC		0.632	SH2D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252493.2	NM_198482		4	70	0	0	0	1	0	4	70				
RAB3C	115827	broad.mit.edu	37	5	58120914	58120914	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A13S-01A-11D-A10S-08	TCGA-DJ-A13S-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b564c58-40b0-4d9b-a372-12249a31a765	22668d43-8a18-4cd4-ad8e-ec4e37ce4a38	g.chr5:58120914G>T	ENST00000282878.4	+	4	590	c.421G>T	c.(421-423)Gtt>Ttt	p.V141F		NM_138453.2	NP_612462.1	Q96E17	RAB3C_HUMAN	RAB3C, member RAS oncogene family	141					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		AGTTATTCTGGTTGGGAACAA	0.398																																						uc003jrp.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21						c.(421-423)Gtt>Ttt		Homo sapiens RAB3C, member RAS oncogene family (RAB3C), mRNA.							110.0	99.0	103.0					5																	58120914		2203	4300	6503	SO:0001583	missense	115827				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr5:58120914G>T	AY026936	CCDS3976.1	5q13	2008-02-05			ENSG00000152932	ENSG00000152932		"""RAB, member RAS oncogene"""	30269	protein-coding gene	gene with protein product		612829				12296628	Standard	NM_138453		Approved		uc003jrp.3	Q96E17	OTTHUMG00000097053	ENST00000282878.4:c.421G>T	5.37:g.58120914G>T	ENSP00000282878:p.Val141Phe						p.V141F	NM_138453	NP_612462	Q96E17	RAB3C_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)	3	518	+		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)	141						Missense_Mutation	SNP	ENST00000282878.4	37	c.421G>T	CCDS3976.1	.	.	.	.	.	.	.	.	.	.	G	35	5.432033	0.96150	.	.	ENSG00000152932	ENST00000282878	D	0.84730	-1.89	6.16	6.16	0.99307	Small GTP-binding protein domain (1);	0.198425	0.33631	N	0.004710	D	0.94248	0.8153	M	0.90198	3.095	0.58432	D	0.999999	D	0.71674	0.998	D	0.75020	0.985	D	0.94165	0.7418	10	0.87932	D	0	-9.2929	20.8598	0.99761	0.0:0.0:1.0:0.0	.	141	Q96E17	RAB3C_HUMAN	F	141	ENSP00000282878:V141F	ENSP00000282878:V141F	V	+	1	0	RAB3C	58156671	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.832000	0.99423	2.937000	0.99478	0.650000	0.86243	GTT		0.398	RAB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214156.2	NM_138453		37	65	0	0	0	1	0	37	65				
MUC16	94025	broad.mit.edu	37	19	9069489	9069489	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A13S-01A-11D-A10S-08	TCGA-DJ-A13S-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b564c58-40b0-4d9b-a372-12249a31a765	22668d43-8a18-4cd4-ad8e-ec4e37ce4a38	g.chr19:9069489G>T	ENST00000397910.4	-	3	18160	c.17957C>A	c.(17956-17958)gCa>gAa	p.A5986E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5988	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.A5986E(2)|p.A1619E(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAAGCTACTTGCACTTGGTAA	0.483																																						uc002mkp.3																			3	Substitution - Missense(3)	p.A5986E(3)|p.S5985I(2)|p.A1619E(1)	kidney(3)	NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(17956-17958)gCa>gAa		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							153.0	148.0	149.0					19																	9069489		1945	4143	6088	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9069489G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.17957C>A	19.37:g.9069489G>T	ENSP00000381008:p.Ala5986Glu						p.A5986E	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			2	18161	-			5988			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.17957C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	3.250	-0.153415	0.06585	.	.	ENSG00000181143	ENST00000397910	T	0.21932	1.98	0.9	-0.55	0.11825	.	.	.	.	.	T	0.04588	0.0125	N	0.00926	-1.1	.	.	.	P	0.35821	0.523	B	0.19666	0.026	T	0.26643	-1.0097	8	0.87932	D	0	.	3.0656	0.06213	0.4598:0.0:0.5402:0.0	.	5986	B5ME49	.	E	5986	ENSP00000381008:A5986E	ENSP00000381008:A5986E	A	-	2	0	MUC16	8930489	0.000000	0.05858	0.000000	0.03702	0.162000	0.22319	-4.840000	0.00179	-0.152000	0.11156	0.281000	0.19383	GCA		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		100	175	0	0	0	1	0	100	175				
EPB41L1	2036	broad.mit.edu	37	20	34809819	34809819	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13S-01A-11D-A10S-08	TCGA-DJ-A13S-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b564c58-40b0-4d9b-a372-12249a31a765	22668d43-8a18-4cd4-ad8e-ec4e37ce4a38	g.chr20:34809819G>A	ENST00000338074.2	+	20	2634	c.2473G>A	c.(2473-2475)Gag>Aag	p.E825K	EPB41L1_ENST00000373946.3_Missense_Mutation_p.E645K|EPB41L1_ENST00000202028.5_Missense_Mutation_p.E723K|EPB41L1_ENST00000373941.1_Missense_Mutation_p.E824K|EPB41L1_ENST00000373950.2_Missense_Mutation_p.E716K|EPB41L1_ENST00000441639.1_Missense_Mutation_p.E723K	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	825	C-terminal (CTD).				cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					GACAAGGATCGAGAAGCGAAT	0.552																																						uc010gfq.3																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37						c.(2767-2769)Gag>Aag		Homo sapiens erythrocyte membrane protein band 4.1-like 1 (EPB41L1), transcript variant 1, mRNA.							134.0	109.0	117.0					20																	34809819		2203	4300	6503	SO:0001583	missense	2036				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity	g.chr20:34809819G>A	AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.2473G>A	20.37:g.34809819G>A	ENSP00000337168:p.Glu825Lys					EPB41L1_uc002xeu.3_Missense_Mutation_p.E723K|EPB41L1_uc002xev.3_Missense_Mutation_p.E824K|EPB41L1_uc002xew.3_Missense_Mutation_p.E716K|EPB41L1_uc002xex.3_Missense_Mutation_p.E645K|EPB41L1_uc002xey.3_Missense_Mutation_p.E575K|EPB41L1_uc002xez.3_Missense_Mutation_p.E723K|EPB41L1_uc002xfb.3_Missense_Mutation_p.E825K	p.E923K	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN			9	3130	+	Breast(12;0.0239)		825					O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Missense_Mutation	SNP	ENST00000338074.2	37	c.2767G>A	CCDS13271.1	.	.	.	.	.	.	.	.	.	.	G	36	5.658836	0.96734	.	.	ENSG00000088367	ENST00000202028;ENST00000373950;ENST00000373951;ENST00000441639;ENST00000373946;ENST00000338074;ENST00000373941;ENST00000454226	D;D;D;D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84;-1.84;-1.84;-1.84	5.47	5.47	0.80525	Band 4.1, C-terminal (1);	.	.	.	.	D	0.92570	0.7640	M	0.78049	2.395	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;1.0	D;D;D;D;P	0.87578	0.998;0.988;0.996;0.988;0.885	D	0.93216	0.6604	9	0.87932	D	0	.	18.3231	0.90246	0.0:0.0:1.0:0.0	.	825;645;716;716;723	Q9H4G0;Q9H4G0-4;Q9H4G0-3;B3KUB6;Q9H4G0-2	E41L1_HUMAN;.;.;.;.	K	723;716;716;723;645;825;824;186	ENSP00000202028:E723K;ENSP00000363061:E716K;ENSP00000399214:E723K;ENSP00000363057:E645K;ENSP00000337168:E825K;ENSP00000363052:E824K;ENSP00000388281:E186K	ENSP00000202028:E723K	E	+	1	0	EPB41L1	34273233	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.476000	0.97823	2.564000	0.86499	0.462000	0.41574	GAG		0.552	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078978.3	NM_012156		27	51	0	0	0	1	0	27	51				
NAV3	89795	broad.mit.edu	37	12	78401006	78401006	+	Missense_Mutation	SNP	A	A	C			TCGA-DJ-A13S-01A-11D-A10S-08	TCGA-DJ-A13S-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b564c58-40b0-4d9b-a372-12249a31a765	22668d43-8a18-4cd4-ad8e-ec4e37ce4a38	g.chr12:78401006A>C	ENST00000397909.2	+	8	1861	c.1688A>C	c.(1687-1689)cAg>cCg	p.Q563P	NAV3_ENST00000228327.6_Missense_Mutation_p.Q563P|NAV3_ENST00000266692.7_Missense_Mutation_p.Q563P|NAV3_ENST00000536525.2_Missense_Mutation_p.Q563P			Q8IVL0	NAV3_HUMAN	neuron navigator 3	563						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AGCCCTTCCCAGTCCTTATCT	0.498										HNSCC(70;0.22)																												uc001syp.3																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(1687-1689)cAg>cCg		Homo sapiens neuron navigator 3 (NAV3), mRNA.							81.0	80.0	81.0					12																	78401006		1905	4122	6027	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78401006A>C	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1688A>C	12.37:g.78401006A>C	ENSP00000381007:p.Gln563Pro	HNSCC(70;0.22)				NAV3_uc001syo.3_Missense_Mutation_p.Q563P	p.Q563P	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			7	1861	+			563					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.1688A>C		.	.	.	.	.	.	.	.	.	.	A	11.28	1.591392	0.28357	.	.	ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T;T	0.14391	2.51;2.51;2.51;2.51;2.51	5.29	5.29	0.74685	.	0.000000	0.38164	U	0.001789	T	0.13927	0.0337	L	0.51422	1.61	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.04737	-1.0930	10	0.28530	T	0.3	-4.998	11.8452	0.52381	0.8539:0.1461:0.0:0.0	.	563;563	Q8IVL0;Q8IVL0-2	NAV3_HUMAN;.	P	563	ENSP00000446628:Q563P;ENSP00000446132:Q563P;ENSP00000381007:Q563P;ENSP00000228327:Q563P;ENSP00000266692:Q563P	ENSP00000228327:Q563P	Q	+	2	0	NAV3	76925137	1.000000	0.71417	0.995000	0.50966	0.962000	0.63368	2.999000	0.49473	2.007000	0.58848	0.528000	0.53228	CAG		0.498	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		53	88	0	0	0	1	0	53	88				
CDKL5	6792	broad.mit.edu	37	X	18664181	18664181	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13S-01A-11D-A10S-08	TCGA-DJ-A13S-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b564c58-40b0-4d9b-a372-12249a31a765	22668d43-8a18-4cd4-ad8e-ec4e37ce4a38	g.chrX:18664181G>A	ENST00000379989.3	+	20	3053	c.2768G>A	c.(2767-2769)cGc>cAc	p.R923H	RS1_ENST00000476595.1_Intron|RS1_ENST00000379984.3_Intron|CDKL5_ENST00000379996.3_Missense_Mutation_p.R923H	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	923			R -> C. {ECO:0000269|PubMed:19241098}.		neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					caagatagacgcttcatgtta	0.478																																						uc004cym.3																			0		p.R922K(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44						c.(2767-2769)cGc>cAc		Homo sapiens cyclin-dependent kinase-like 5 (CDKL5), transcript variant I, mRNA.							164.0	123.0	137.0					X																	18664181		2203	4300	6503	SO:0001583	missense	6792				neuron migration|positive regulation of Rac GTPase activity|positive regulation of axon extension|positive regulation of dendrite morphogenesis|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|Rac GTPase binding|cyclin-dependent protein kinase activity	g.chrX:18664181G>A	Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"""Cyclin-dependent kinases"""	11411	protein-coding gene	gene with protein product		300203	"""serine/threonine kinase 9"""	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.2768G>A	X.37:g.18664181G>A	ENSP00000369325:p.Arg923His					CDKL5_uc004cyn.3_Missense_Mutation_p.R923H|RS1_uc004cyo.3_Intron	p.R923H	NM_003159	NP_003150	O76039	CDKL5_HUMAN			18	3021	+	Hepatocellular(33;0.183)		923		R -> C.			G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	ENST00000379989.3	37	c.2768G>A	CCDS14186.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.194713	0.38806	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.71817	-0.6;-0.6	1.89	-1.23	0.09465	.	0.611520	0.14334	N	0.326200	T	0.42404	0.1201	N	0.08118	0	0.09310	N	1	B	0.28258	0.205	B	0.11329	0.006	T	0.23655	-1.0182	10	0.87932	D	0	.	5.2671	0.15605	0.628:0.0:0.372:0.0	.	923	O76039	CDKL5_HUMAN	H	923	ENSP00000369332:R923H;ENSP00000369325:R923H	ENSP00000369325:R923H	R	+	2	0	CDKL5	18574102	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.311000	0.08124	-0.524000	0.06400	0.418000	0.28097	CGC		0.478	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159		20	77	0	0	0	1	0	20	77				
CEP350	9857	broad.mit.edu	37	1	180010893	180010893	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DJ-A13S-01A-11D-A10S-08	TCGA-DJ-A13S-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b564c58-40b0-4d9b-a372-12249a31a765	22668d43-8a18-4cd4-ad8e-ec4e37ce4a38	g.chr1:180010893G>T	ENST00000367607.3	+	19	4736	c.4318G>T	c.(4318-4320)Gaa>Taa	p.E1440*		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1440					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TCAGCAGTCAGAAACTGCTCG	0.458																																						uc001gnt.3																			0				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						c.(4318-4320)Gaa>Taa		Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.							57.0	52.0	54.0					1																	180010893		2203	4300	6503	SO:0001587	stop_gained	9857					centrosome|nucleus|spindle		g.chr1:180010893G>T	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.4318G>T	1.37:g.180010893G>T	ENSP00000356579:p.Glu1440*					CEP350_uc009wxl.2_Nonsense_Mutation_p.E1439*	p.E1440*	NM_014810	NP_055625	Q5VT06	CE350_HUMAN			18	4701	+			1440					O75068|Q8TDK3|Q8WY20	Nonsense_Mutation	SNP	ENST00000367607.3	37	c.4318G>T	CCDS1336.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.20|17.20	3.330215|3.330215	0.60743|0.60743	.|.	.|.	ENSG00000135837|ENSG00000135837	ENST00000367607|ENST00000418229	.|.	.|.	.|.	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	0.000000|.	0.47852|.	D|.	0.000219|.	.|T	.|0.74191	.|0.3684	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72184	.|-0.4367	.|3	.|.	.|.	.|.	.|.	17.6537|17.6537	0.88172|0.88172	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	1440|48	.|.	.|.	E|R	+|+	1|2	0|0	CEP350|CEP350	178277516|178277516	1.000000|1.000000	0.71417|0.71417	0.843000|0.843000	0.33291|0.33291	0.154000|0.154000	0.21943|0.21943	7.625000|7.625000	0.83145|0.83145	2.692000|2.692000	0.91855|0.91855	0.591000|0.591000	0.81541|0.81541	GAA|AGA		0.458	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		3	31	0	0	0	1	0	3	31				
BOC	91653	broad.mit.edu	37	3	112993298	112993298	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A13S-01A-11D-A10S-08	TCGA-DJ-A13S-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b564c58-40b0-4d9b-a372-12249a31a765	22668d43-8a18-4cd4-ad8e-ec4e37ce4a38	g.chr3:112993298C>A	ENST00000495514.1	+	9	2015	c.1311C>A	c.(1309-1311)aaC>aaA	p.N437K	BOC_ENST00000355385.3_Missense_Mutation_p.N437K|BOC_ENST00000273395.4_Missense_Mutation_p.N437K			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	437					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			AACTCGGCAACCCTGAGCAGA	0.632																																						uc003dzz.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(1309-1311)aaC>aaA		Homo sapiens Boc homolog (mouse) (BOC), mRNA.							62.0	57.0	59.0					3																	112993298		2203	4300	6503	SO:0001583	missense	91653				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding	g.chr3:112993298C>A	AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17173	protein-coding gene	gene with protein product	"""brother of CDO"", ""brother of CDON"", ""cell adhesion associated, oncogene regulated 2"""	608708	"""Boc homolog (mouse)"""			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.1311C>A	3.37:g.112993298C>A	ENSP00000418663:p.Asn437Lys					BOC_uc003dzx.3_Missense_Mutation_p.N437K|BOC_uc003dzy.3_Missense_Mutation_p.N437K|BOC_uc003eab.3_Missense_Mutation_p.N138K	p.N437K	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	Epithelial(53;0.227)		8	1650	+			437					A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Missense_Mutation	SNP	ENST00000495514.1	37	c.1311C>A	CCDS2971.1	.	.	.	.	.	.	.	.	.	.	C	0.795	-0.757427	0.03019	.	.	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385	T;T;T	0.58358	0.34;0.35;0.34	5.62	3.78	0.43462	.	0.866420	0.10452	N	0.673001	T	0.31295	0.0792	N	0.08118	0	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.16722	0.016;0.007	T	0.24977	-1.0145	10	0.23302	T	0.38	.	8.1435	0.31097	0.1328:0.728:0.0:0.1392	.	437;437	Q9BWV1-3;Q9BWV1	.;BOC_HUMAN	K	437	ENSP00000418663:N437K;ENSP00000273395:N437K;ENSP00000347546:N437K	ENSP00000273395:N437K	N	+	3	2	BOC	114475988	0.668000	0.27493	0.614000	0.29051	0.022000	0.10575	0.176000	0.16782	0.687000	0.31509	0.563000	0.77884	AAC		0.632	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	NM_033254		14	135	0	0	0	1	0	14	135				
KLHDC2	23588	broad.mit.edu	37	14	50241313	50241313	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A13S-01A-11D-A10S-08	TCGA-DJ-A13S-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b564c58-40b0-4d9b-a372-12249a31a765	22668d43-8a18-4cd4-ad8e-ec4e37ce4a38	g.chr14:50241313T>C	ENST00000298307.5	+	3	1129	c.268T>C	c.(268-270)Tct>Cct	p.S90P	KLHDC2_ENST00000557247.1_Missense_Mutation_p.S90P|KLHDC2_ENST00000553538.1_3'UTR|KLHDC2_ENST00000554589.1_Missense_Mutation_p.S90P	NM_014315.2	NP_055130.1	Q9Y2U9	KLDC2_HUMAN	kelch domain containing 2	90						nucleus (GO:0005634)				endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(31;0.000959)|Breast(41;0.0117)					TGTTCCTCCTTCTATGTCAGG	0.383																																						uc001wwx.3																			0				endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(268-270)Tct>Cct		Homo sapiens kelch domain containing 2 (KLHDC2), mRNA.							208.0	190.0	196.0					14																	50241313		2203	4300	6503	SO:0001583	missense	23588					nucleus	protein binding	g.chr14:50241313T>C	AK001771	CCDS9693.1	14q21.3	2003-01-15			ENSG00000165516	ENSG00000165516			20231	protein-coding gene	gene with protein product		611280				11384994	Standard	NM_014315		Approved	HCLP-1, LCP	uc001wwx.3	Q9Y2U9	OTTHUMG00000140288	ENST00000298307.5:c.268T>C	14.37:g.50241313T>C	ENSP00000298307:p.Ser90Pro					NEMF_uc010anj.1_Intron	p.S90P	NM_014315	NP_055130	Q9Y2U9	KLDC2_HUMAN			2	668	+	all_epithelial(31;0.000959)|Breast(41;0.0117)		90					B3KPF9|Q6IAF0|Q86TY9	Missense_Mutation	SNP	ENST00000298307.5	37	c.268T>C	CCDS9693.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.333221	0.81801	.	.	ENSG00000165516	ENST00000298307;ENST00000554589;ENST00000557247	T;T;T	0.62105	0.05;0.05;0.05	5.95	5.95	0.96441	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.53626	0.1808	L	0.35644	1.08	0.58432	D	0.999998	B;B;B	0.21520	0.006;0.046;0.057	B;B;B	0.23574	0.01;0.028;0.047	T	0.48614	-0.9020	10	0.19147	T	0.46	-20.6516	16.4159	0.83738	0.0:0.0:0.0:1.0	.	90;90;90	G3V2H2;G3V3U8;Q9Y2U9	.;.;KLDC2_HUMAN	P	90	ENSP00000298307:S90P;ENSP00000451439:S90P;ENSP00000450658:S90P	ENSP00000298307:S90P	S	+	1	0	KLHDC2	49311063	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	4.729000	0.62008	2.279000	0.76181	0.533000	0.62120	TCT		0.383	KLHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276869.1			20	283	0	0	0	1	0	20	283				
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290	byFrequency	TCGA-DJ-A13S-01A-11D-A10S-08	TCGA-DJ-A13S-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b564c58-40b0-4d9b-a372-12249a31a765	22668d43-8a18-4cd4-ad8e-ec4e37ce4a38	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												uc009wgu.3	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"""L, E"""			"""melanoma, MM, AML, thyroid"""		1016	Substitution - Missense(1016)	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.							180.0	156.0	164.0					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.Q61R	NM_002524	NP_002515	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	436	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		124	186	0	0	0	1	0	124	186				
MATR3	9782	broad.mit.edu	37	5	138643173	138643173	+	Silent	SNP	G	G	A			TCGA-DJ-A13S-01A-11D-A10S-08	TCGA-DJ-A13S-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b564c58-40b0-4d9b-a372-12249a31a765	22668d43-8a18-4cd4-ad8e-ec4e37ce4a38	g.chr5:138643173G>A	ENST00000394805.3	+	2	404	c.69G>A	c.(67-69)gcG>gcA	p.A23A	MATR3_ENST00000503811.1_Intron|MATR3_ENST00000361059.2_Silent_p.A23A|MATR3_ENST00000509990.1_Silent_p.A23A|MATR3_ENST00000504203.1_Intron|MATR3_ENST00000502499.1_Intron|MATR3_ENST00000394800.2_Silent_p.A23A|MATR3_ENST00000510056.1_Silent_p.A23A|MATR3_ENST00000502929.1_Silent_p.A23A	NM_001194955.1|NM_018834.5	NP_001181884.1|NP_061322.2	P43243	MATR3_HUMAN	matrin 3	23					cell death (GO:0008219)	membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			ACCTGTCTGCGGCAGGAATAG	0.478																																						uc003ldw.3																			0				breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(67-69)gcG>gcA		Homo sapiens matrin 3 (MATR3), transcript variant 2, mRNA.							110.0	108.0	109.0					5																	138643173		2203	4300	6503	SO:0001819	synonymous_variant	9782					nuclear inner membrane|nuclear matrix	RNA binding|nucleotide binding|protein binding|structural molecule activity|zinc ion binding	g.chr5:138643173G>A	M63483	CCDS4210.1, CCDS54908.1, CCDS75316.1	5q31.3	2010-08-12			ENSG00000015479	ENSG00000015479			6912	protein-coding gene	gene with protein product		164015	"""myopathy, distal 2"""	MPD2		2033075, 19344878	Standard	NM_018834		Approved	KIAA0723, MGC9105, VCPDM	uc003ldx.3	P43243	OTTHUMG00000129229	ENST00000394805.3:c.69G>A	5.37:g.138643173G>A						MATR3_uc003lds.3_Silent_p.A23A|MATR3_uc003ldt.3_Intron|MATR3_uc003ldu.3_Silent_p.A23A|MATR3_uc010jfb.3_Silent_p.A23A|MATR3_uc003ldx.3_Silent_p.A23A|MATR3_uc003ldy.3_Intron|MATR3_uc003ldz.3_Silent_p.A23A|MATR3_uc011czb.2_Intron	p.A23A	NM_018834	NP_954659	P43243	MATR3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		2	472	+			23					B7ZAV5|D3DQC3|Q9UHW0|Q9UQ27	Silent	SNP	ENST00000394805.3	37	c.69G>A	CCDS4210.1																																																																																				0.478	MATR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251324.2	NM_018834		64	151	0	0	0	1	0	64	151				
PTPN13	5783	broad.mit.edu	37	4	87662917	87662917	+	Missense_Mutation	SNP	G	G	A	rs368764035		TCGA-DJ-A13S-01A-11D-A10S-08	TCGA-DJ-A13S-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b564c58-40b0-4d9b-a372-12249a31a765	22668d43-8a18-4cd4-ad8e-ec4e37ce4a38	g.chr4:87662917G>A	ENST00000411767.2	+	16	2498	c.2435G>A	c.(2434-2436)cGc>cAc	p.R812H	PTPN13_ENST00000316707.6_Missense_Mutation_p.R812H|PTPN13_ENST00000436978.1_Missense_Mutation_p.R812H|PTPN13_ENST00000511467.1_Missense_Mutation_p.R812H|PTPN13_ENST00000427191.2_Missense_Mutation_p.R812H			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	812	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AATGGAGTGCGCACATTGGTC	0.388																																						uc003hpy.3																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(2434-2436)cGc>cAc		Homo sapiens protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) (PTPN13), transcript variant 4, mRNA.		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,3865		0,1,1932	128.0	122.0	124.0		2435,2435,2435,2435	5.7	1.0	4		124	0,8268		0,0,4134	no	missense,missense,missense,missense	PTPN13	NM_006264.2,NM_080683.2,NM_080684.2,NM_080685.2	29,29,29,29	0,1,6066	AA,AG,GG		0.0,0.0259,0.0082	probably-damaging,probably-damaging,probably-damaging,probably-damaging	812/2467,812/2486,812/2295,812/2491	87662917	1,12133	1933	4134	6067	SO:0001583	missense	5783					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity	g.chr4:87662917G>A		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.2435G>A	4.37:g.87662917G>A	ENSP00000407249:p.Arg812His					PTPN13_uc003hpz.3_Missense_Mutation_p.R812H|PTPN13_uc003hqa.3_Missense_Mutation_p.R812H|PTPN13_uc003hqb.3_Missense_Mutation_p.R812H	p.R812H	NM_080685	NP_542416	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	15	2915	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	812			FERM.		B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	c.2435G>A	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	G	34	5.402688	0.96030	2.59E-4	0.0	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	D;D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66;-1.66	5.73	5.73	0.89815	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.45606	D	0.000345	D	0.91975	0.7458	M	0.79693	2.465	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;1.0	D	0.92333	0.5875	10	0.87932	D	0	.	19.8961	0.96958	0.0:0.0:1.0:0.0	.	812;812;812;812	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	H	812;812;812;812;812;780	ENSP00000408368:R812H;ENSP00000394794:R812H;ENSP00000322675:R812H;ENSP00000407249:R812H;ENSP00000426626:R812H	ENSP00000322675:R812H	R	+	2	0	PTPN13	87881941	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.699000	0.92147	0.655000	0.94253	CGC		0.388	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			3	36	0	0	0	1	0	3	36				
XIRP2	129446	broad.mit.edu	37	2	168105213	168105213	+	Silent	SNP	G	G	A			TCGA-DJ-A13S-01A-11D-A10S-08	TCGA-DJ-A13S-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b564c58-40b0-4d9b-a372-12249a31a765	22668d43-8a18-4cd4-ad8e-ec4e37ce4a38	g.chr2:168105213G>A	ENST00000409195.1	+	9	7400	c.7311G>A	c.(7309-7311)aaG>aaA	p.K2437K	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Silent_p.K2437K|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Silent_p.K2215K|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2262					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAGATAATAAGAACGATTTTT	0.403																																						uc002udx.3																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(7309-7311)aaG>aaA		Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.							86.0	88.0	87.0					2																	168105213		1833	4087	5920	SO:0001819	synonymous_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168105213G>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.7311G>A	2.37:g.168105213G>A						XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.K2262K|XIRP2_uc010fpq.3_Silent_p.K2215K|XIRP2_uc010fpr.3_Intron	p.K2437K	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	7400	+			2262					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	37	c.7311G>A	CCDS42769.1																																																																																				0.403	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		47	94	0	0	0	1	0	47	94				
