#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
HLA-DQB2	3120	broad.mit.edu	37	6	32725567	32725567	+	Missense_Mutation	SNP	C	C	T	rs77504727		TCGA-FY-A40M-01A-11D-A23M-08	TCGA-FY-A40M-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f013bd51-dfbc-4f81-88ce-2d2d1188a116	738918d8-2f03-4344-a87a-21a0e1cdca57	g.chr6:32725567C>T	ENST00000437316.2	-	4	803	c.740G>A	c.(739-741)cGt>cAt	p.R247H	HLA-DQB2_ENST00000435145.2_Missense_Mutation_p.R247H|HLA-DQB2_ENST00000411527.1_Intron			P05538	DQB2_HUMAN	major histocompatibility complex, class II, DQ beta 2	251					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|B cell affinity maturation (GO:0002344)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of alpha-beta T cell activation (GO:0046635)|positive regulation of antigen processing and presentation (GO:0002579)|positive regulation of T-helper 1 type immune response (GO:0002827)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome (GO:0005769)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)|toxic substance binding (GO:0015643)			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						ACCCCTGTGACGGATGATAAG	0.552																																						ENST00000435145.2																			0				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						c.(739-741)cGt>cAt		major histocompatibility complex, class II, DQ beta 2																																				SO:0001583	missense	3120				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex		g.chr6:32725567C>T	M83890	CCDS56419.1	6p21.3	2013-01-11			ENSG00000232629	ENSG00000232629		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4945	protein-coding gene	gene with protein product		615161		HLA-DXB		2564844	Standard	NM_001198858		Approved		uc003oby.4	P05538	OTTHUMG00000031125	ENST00000437316.2:c.740G>A	6.37:g.32725567C>T	ENSP00000396330:p.Arg247His					HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.R247H	p.R247H			Q5SR06	Q5SR06_HUMAN			4	801	-			216					A6NIA5|Q29826|Q29870|Q29871|Q29872|Q29873|Q5SR06	Missense_Mutation	SNP	ENST00000437316.2	37	c.740G>A		.	.	.	.	.	.	.	.	.	.	.	0.003	-2.431383	0.00184	.	.	ENSG00000232629	ENST00000437316;ENST00000435145	T;T	0.00625	6.17;6.14	3.25	-3.63	0.04529	.	0.752796	0.12134	N	0.496536	T	0.00210	0.0006	.	.	.	0.09310	N	1	B	0.15141	0.012	B	0.09377	0.004	T	0.25502	-1.0130	9	0.41790	T	0.15	.	9.6955	0.40154	0.0:0.4123:0.0:0.5877	rs34134876	247	A2ADX3	.	H	247	ENSP00000396330:R247H;ENSP00000410512:R247H	ENSP00000410512:R247H	R	-	2	0	HLA-DQB2	32833545	0.000000	0.05858	0.008000	0.14137	0.015000	0.08874	-1.557000	0.02166	-0.833000	0.04245	-1.855000	0.00564	CGT		0.552	HLA-DQB2-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000076216.2			4	18	0	0	0	1	0	4	18				
DVL3	1857	broad.mit.edu	37	3	183884441	183884441	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A40M-01A-11D-A23M-08	TCGA-FY-A40M-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f013bd51-dfbc-4f81-88ce-2d2d1188a116	738918d8-2f03-4344-a87a-21a0e1cdca57	g.chr3:183884441G>A	ENST00000313143.3	+	10	1276	c.1028G>A	c.(1027-1029)gGt>gAt	p.G343D	EIF2B5_ENST00000444495.1_Intron|DVL3_ENST00000431765.1_Missense_Mutation_p.G343D	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	343					canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|intracellular signal transduction (GO:0035556)|non-canonical Wnt signaling pathway (GO:0035567)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|outflow tract septum morphogenesis (GO:0003148)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cell cortex (GO:0005938)	beta-catenin binding (GO:0008013)|frizzled binding (GO:0005109)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			AGTCCACGTGGTTGCTTCACA	0.527																																						ENST00000313143.3																			0				breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35						c.(1027-1029)gGt>gAt		dishevelled segment polarity protein 3							124.0	110.0	115.0					3																	183884441		2203	4300	6503	SO:0001583	missense	1857				canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity	g.chr3:183884441G>A	D86963	CCDS3253.1	3q27	2013-05-22	2013-05-22		ENSG00000161202	ENSG00000161202		"""Dishevelled homologs"""	3087	protein-coding gene	gene with protein product		601368	"""dishevelled 3 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 3 (Drosophila)"""			8817329	Standard	NM_004423		Approved	KIAA0208	uc003fms.3	Q92997	OTTHUMG00000156841	ENST00000313143.3:c.1028G>A	3.37:g.183884441G>A	ENSP00000316054:p.Gly343Asp					DVL3_ENST00000431765.1_Missense_Mutation_p.G343D|EIF2B5_ENST00000444495.1_Intron	p.G343D	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)		10	1276	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		343					B4E3E5|D3DNT0|O14642|Q13531|Q8N5E9|Q92607	Missense_Mutation	SNP	ENST00000313143.3	37	c.1028G>A	CCDS3253.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.093180	0.76756	.	.	ENSG00000161202	ENST00000313143;ENST00000415612;ENST00000431765	T;T	0.04156	3.7;3.69	5.97	5.97	0.96955	PDZ/DHR/GLGF (1);	0.087842	0.85682	D	0.000000	T	0.20292	0.0488	M	0.82323	2.585	0.58432	D	0.999998	P;D;P;D	0.60160	0.94;0.965;0.562;0.987	P;P;P;P	0.60173	0.694;0.806;0.544;0.87	T	0.00032	-1.2278	10	0.72032	D	0.01	-20.3823	13.6104	0.62074	0.0704:0.0:0.9296:0.0	.	343;175;343;343	B4E3E5;Q9UG07;F5GWR8;Q92997	.;.;.;DVL3_HUMAN	D	343	ENSP00000316054:G343D;ENSP00000405885:G343D	ENSP00000316054:G343D	G	+	2	0	DVL3	185367135	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.810000	0.75216	2.836000	0.97738	0.655000	0.94253	GGT		0.527	DVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346184.1	NM_004423		11	12	0	0	0	1	0	11	12				
KIT	3815	broad.mit.edu	37	4	55604659	55604659	+	Missense_Mutation	SNP	G	G	A	rs139694927		TCGA-FY-A40M-01A-11D-A23M-08	TCGA-FY-A40M-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f013bd51-dfbc-4f81-88ce-2d2d1188a116	738918d8-2f03-4344-a87a-21a0e1cdca57	g.chr4:55604659G>A	ENST00000288135.5	+	21	2964	c.2867G>A	c.(2866-2868)cGg>cAg	p.R956Q		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	956					actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R956Q(1)|p.R956L(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CATTCTGTGCGGATCAATTCT	0.532		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													ENST00000288135.5		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	"""Mis, O"""	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"""L, M, O, E"""		"""GIST, epithelioma"""	"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""		2	Substitution - Missense(2)	p.R956Q(1)|p.R956L(1)	ovary(1)|lung(1)	NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411						c.(2866-2868)cGg>cAg		v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	G	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	133.0	128.0	130.0		2867,2855	5.7	1.0	4	dbSNP_134	130	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	KIT	NM_000222.2,NM_001093772.1	43,43	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	956/977,952/973	55604659	2,13004	2203	4300	6503	SO:0001583	missense	3815	Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	g.chr4:55604659G>A	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.2867G>A	4.37:g.55604659G>A	ENSP00000288135:p.Arg956Gln						p.R956Q	NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	21	2964	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		956					B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	c.2867G>A	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486931	0.84854	2.27E-4	1.16E-4	ENSG00000157404	ENST00000288135;ENST00000412167	T;T	0.77098	-1.07;-1.07	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000015	D	0.87712	0.6246	M	0.70275	2.135	0.58432	D	0.999993	D;D	0.89917	0.993;1.0	P;D	0.85130	0.836;0.997	D	0.88115	0.2828	10	0.66056	D	0.02	.	17.6745	0.88226	0.0:0.0:1.0:0.0	.	952;956	P10721-2;P10721	.;KIT_HUMAN	Q	956;952	ENSP00000288135:R956Q;ENSP00000390987:R952Q	ENSP00000288135:R956Q	R	+	2	0	KIT	55299416	1.000000	0.71417	0.995000	0.50966	0.202000	0.24057	8.247000	0.89830	2.706000	0.92434	0.561000	0.74099	CGG		0.532	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			8	94	0	0	0	1	0	8	94				
HMCN1	83872	broad.mit.edu	37	1	186136027	186136027	+	Missense_Mutation	SNP	G	G	A	rs150494959	byFrequency	TCGA-FY-A40M-01A-11D-A23M-08	TCGA-FY-A40M-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f013bd51-dfbc-4f81-88ce-2d2d1188a116	738918d8-2f03-4344-a87a-21a0e1cdca57	g.chr1:186136027G>A	ENST00000271588.4	+	100	15756	c.15527G>A	c.(15526-15528)cGt>cAt	p.R5176H	HMCN1_ENST00000367492.2_Missense_Mutation_p.R5176H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5176	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.R5176H(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGTGTGGTCCGTTGTGGAAGT	0.463													G|||	3	0.000599042	0.0015	0.0014	5008	,	,		19991	0.0		0.0	False		,,,				2504	0.0					ENST00000271588.4																			1	Substitution - Missense(1)	p.R5176H(1)	kidney(1)	NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(15526-15528)cGt>cAt		hemicentin 1		G	HIS/ARG	9,4397	15.5+/-35.6	0,9,2194	225.0	192.0	203.0		15527	-10.8	0.0	1	dbSNP_134	203	2,8598	2.2+/-6.3	0,2,4298	yes	missense	HMCN1	NM_031935.2	29	0,11,6492	AA,AG,GG		0.0233,0.2043,0.0846	benign	5176/5636	186136027	11,12995	2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186136027G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.15527G>A	1.37:g.186136027G>A	ENSP00000271588:p.Arg5176His					HMCN1_ENST00000367492.2_Missense_Mutation_p.R5176H	p.R5176H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			100	15756	+			5176			EGF-like 2; calcium-binding (Potential).		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.15527G>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	9.045	0.990593	0.18966	0.002043	2.33E-4	ENSG00000143341	ENST00000271588;ENST00000367492	D;D	0.87412	-2.25;-2.25	5.39	-10.8	0.00216	EGF-like calcium-binding (2);	0.402712	0.27764	N	0.017956	T	0.72716	0.3495	L	0.33093	0.98	0.09310	N	0.999995	B	0.13594	0.008	B	0.10450	0.005	T	0.48091	-0.9065	10	0.19147	T	0.46	.	13.2854	0.60241	0.657:0.0807:0.2623:0.0	.	5176	Q96RW7	HMCN1_HUMAN	H	5176	ENSP00000271588:R5176H;ENSP00000356462:R5176H	ENSP00000271588:R5176H	R	+	2	0	HMCN1	184402650	0.003000	0.15002	0.000000	0.03702	0.444000	0.32077	0.271000	0.18626	-2.778000	0.00362	-1.170000	0.01741	CGT		0.463	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		26	24	0	0	0	1	0	26	24				
USH1C	10083	broad.mit.edu	37	11	17542472	17542472	+	Silent	SNP	G	G	A			TCGA-FY-A40M-01A-11D-A23M-08	TCGA-FY-A40M-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f013bd51-dfbc-4f81-88ce-2d2d1188a116	738918d8-2f03-4344-a87a-21a0e1cdca57	g.chr11:17542472G>A	ENST00000318024.4	-	14	1263	c.1155C>T	c.(1153-1155)ctC>ctT	p.L385L	USH1C_ENST00000005226.7_Silent_p.L385L|USH1C_ENST00000527720.1_Silent_p.L354L|USH1C_ENST00000527020.1_Silent_p.L366L	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	385					auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						TTTTAGGCAAGAGTAGCTGTT	0.488																																						ENST00000005226.7																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						c.(1153-1155)ctC>ctT		Usher syndrome 1C (autosomal recessive, severe)							460.0	441.0	448.0					11																	17542472		2200	4293	6493	SO:0001819	synonymous_variant	10083				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding	g.chr11:17542472G>A	AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"""harmonin"""	605242	"""deafness, autosomal recessive 18"""	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.1155C>T	11.37:g.17542472G>A						USH1C_ENST00000527720.1_Silent_p.L354L|USH1C_ENST00000527020.1_Silent_p.L366L|USH1C_ENST00000318024.4_Silent_p.L385L	p.L385L	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN			14	1154	-			385					A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Silent	SNP	ENST00000318024.4	37	c.1155C>T	CCDS31438.1																																																																																				0.488	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1	NM_005709		200	268	0	0	0	1	0	200	268				
SLC22A23	63027	broad.mit.edu	37	6	3285329	3285329	+	Silent	SNP	G	G	A			TCGA-FY-A40M-01A-11D-A23M-08	TCGA-FY-A40M-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f013bd51-dfbc-4f81-88ce-2d2d1188a116	738918d8-2f03-4344-a87a-21a0e1cdca57	g.chr6:3285329G>A	ENST00000406686.3	-	8	1562	c.1563C>T	c.(1561-1563)agC>agT	p.S521S	SLC22A23_ENST00000490273.1_Silent_p.S240S|SLC22A23_ENST00000436008.2_Silent_p.S521S|SLC22A23_ENST00000380302.4_Silent_p.S240S|PSMG4_ENST00000451246.2_Intron	NM_015482.1	NP_056297.1	A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23	521					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				CTGGGTGCTGGCTGTACTTTC	0.537																																						ENST00000436008.2																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14						c.(1561-1563)agC>agT		solute carrier family 22, member 23							72.0	55.0	61.0					6																	3285329		2203	4300	6503	SO:0001819	synonymous_variant	63027				ion transport	integral to membrane	transmembrane transporter activity	g.chr6:3285329G>A	AJ420525	CCDS34331.1, CCDS47363.1, CCDS75389.1	6p25.2	2013-05-22	2008-01-11	2008-01-11	ENSG00000137266	ENSG00000137266		"""Solute carriers"""	21106	protein-coding gene	gene with protein product		611697	"""chromosome 6 open reading frame 85"""	C6orf85		17714910	Standard	NM_015482		Approved	FLJ22174	uc003mvm.3	A1A5C7	OTTHUMG00000014144	ENST00000406686.3:c.1563C>T	6.37:g.3285329G>A						SLC22A23_ENST00000380302.4_Silent_p.S240S|SLC22A23_ENST00000490273.1_Silent_p.S240S|SLC22A23_ENST00000406686.3_Silent_p.S521S|PSMG4_ENST00000451246.2_Intron	p.S521S			A1A5C7	S22AN_HUMAN			8	2025	-	Ovarian(93;0.0493)	all_hematologic(90;0.0905)	521					A1A5C8|Q5T8B8|Q6ZMH3|Q8IW73	Silent	SNP	ENST00000406686.3	37	c.1563C>T	CCDS47363.1																																																																																				0.537	SLC22A23-006	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353059.1	NM_021945		9	11	0	0	0	1	0	9	11				
MET	4233	broad.mit.edu	37	7	116339286	116339286	+	Missense_Mutation	SNP	A	A	G			TCGA-FY-A40M-01A-11D-A23M-08	TCGA-FY-A40M-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f013bd51-dfbc-4f81-88ce-2d2d1188a116	738918d8-2f03-4344-a87a-21a0e1cdca57	g.chr7:116339286A>G	ENST00000318493.6	+	2	335	c.148A>G	c.(148-150)Aca>Gca	p.T50A	MET_ENST00000397752.3_Missense_Mutation_p.T50A|MET_ENST00000436117.2_Missense_Mutation_p.T50A			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0	SAP. {ECO:0000255|PROSITE- ProRule:PRU00186}.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CACCGCGGAAACACCCATCCA	0.438			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													ENST00000397752.3				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	"""papillary renal, head-neck squamous cell """		0				NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233						c.(148-150)Aca>Gca		met proto-oncogene							103.0	101.0	102.0					7																	116339286		1965	4159	6124	SO:0001583	missense	0	Hereditary Papillary Renal Carcinoma (type 1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116339286A>G	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.148A>G	7.37:g.116339286A>G	ENSP00000317272:p.Thr50Ala					MET_ENST00000436117.2_Missense_Mutation_p.T50A|MET_ENST00000318493.6_Missense_Mutation_p.T50A	p.T50A	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		2	348	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	50			Sema.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	c.148A>G	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	A	13.95	2.390678	0.42410	.	.	ENSG00000105976	ENST00000437703;ENST00000456159;ENST00000397752;ENST00000318493;ENST00000436117	T;T;T;T	0.05319	3.46;3.46;3.46;3.46	5.9	5.9	0.94986	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.102804	0.64402	D	0.000004	T	0.25644	0.0624	M	0.78456	2.415	0.80722	D	1	P;D;D;D;D;D;D;D;D;D;D;D;D	0.76494	0.799;0.99;0.994;0.99;0.99;0.99;0.99;0.972;0.972;0.982;0.972;0.999;0.999	B;P;P;P;P;P;P;P;B;P;P;D;D	0.79784	0.097;0.804;0.842;0.844;0.844;0.804;0.844;0.688;0.412;0.793;0.625;0.993;0.993	T	0.01283	-1.1396	10	0.29301	T	0.29	-8.2448	16.3317	0.83023	1.0:0.0:0.0:0.0	.	50;50;50;50;50;50;50;50;50;50;50;50;50	B5A929;E7EQ94;B5A930;B5A934;B5A936;B5A937;B5A939;B5A941;B5A940;P08581-2;B5A942;P08581;A1L467	.;.;.;.;.;.;.;.;.;.;.;MET_HUMAN;.	A	69;69;50;50;50	ENSP00000413857:T69A;ENSP00000380860:T50A;ENSP00000317272:T50A;ENSP00000410980:T50A	ENSP00000317272:T50A	T	+	1	0	MET	116126522	1.000000	0.71417	0.780000	0.31762	0.856000	0.48823	4.429000	0.59901	2.264000	0.75181	0.533000	0.62120	ACA		0.438	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			3	59	0	0	0	1	0	3	59				
NUP155	9631	broad.mit.edu	37	5	37352892	37352892	+	Missense_Mutation	SNP	G	G	A	rs371884662		TCGA-FY-A40M-01A-11D-A23M-08	TCGA-FY-A40M-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f013bd51-dfbc-4f81-88ce-2d2d1188a116	738918d8-2f03-4344-a87a-21a0e1cdca57	g.chr5:37352892G>A	ENST00000231498.3	-	5	706	c.503C>T	c.(502-504)gCg>gTg	p.A168V	NUP155_ENST00000513532.1_Missense_Mutation_p.A168V|NUP155_ENST00000381843.2_Missense_Mutation_p.A109V	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	168					atrial cardiac muscle cell action potential (GO:0086014)|carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TACAGGGGTCGCCAAAACCAG	0.403																																						ENST00000231498.3																			0				endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62						c.(502-504)gCg>gTg		nucleoporin 155kDa		G	VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	86.0	83.0	84.0		326,503	5.7	1.0	5		84	0,8600		0,0,4300	no	missense,missense	NUP155	NM_004298.2,NM_153485.1	64,64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	109/1333,168/1392	37352892	1,13005	2203	4300	6503	SO:0001583	missense	9631				carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity	g.chr5:37352892G>A	AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"""nucleoporin 155kD"""			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.503C>T	5.37:g.37352892G>A	ENSP00000231498:p.Ala168Val					NUP155_ENST00000381843.2_Missense_Mutation_p.A109V|NUP155_ENST00000513532.1_Missense_Mutation_p.A168V	p.A168V	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		5	706	-	all_lung(31;0.000137)		168					Q9UBE9|Q9UFL5	Missense_Mutation	SNP	ENST00000231498.3	37	c.503C>T	CCDS3921.1	.	.	.	.	.	.	.	.	.	.	G	18.44	3.625434	0.66901	2.27E-4	0.0	ENSG00000113569	ENST00000231498;ENST00000381843;ENST00000434056;ENST00000513532	T;T;T	0.50813	0.73;0.73;0.73	5.72	5.72	0.89469	Nucleoporin, Nup133/Nup155-like, N-terminal (1);	0.047232	0.85682	D	0.000000	T	0.56455	0.1986	M	0.74881	2.28	0.58432	D	0.999999	B;P	0.39352	0.329;0.669	B;B	0.42343	0.122;0.384	T	0.60146	-0.7320	10	0.56958	D	0.05	.	18.0744	0.89423	0.0:0.0:1.0:0.0	.	168;168	E9PF10;O75694	.;NU155_HUMAN	V	168;109;130;168	ENSP00000231498:A168V;ENSP00000371265:A109V;ENSP00000422019:A168V	ENSP00000231498:A168V	A	-	2	0	NUP155	37388649	1.000000	0.71417	1.000000	0.80357	0.328000	0.28507	7.905000	0.87416	2.703000	0.92315	0.460000	0.39030	GCG		0.403	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207593.2	NM_153485, NM_004298		3	43	0	0	0	1	0	3	43				
HINT1	3094	broad.mit.edu	37	5	130495259	130495259	+	Missense_Mutation	SNP	G	G	C			TCGA-FY-A40M-01A-11D-A23M-08	TCGA-FY-A40M-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f013bd51-dfbc-4f81-88ce-2d2d1188a116	738918d8-2f03-4344-a87a-21a0e1cdca57	g.chr5:130495259G>C	ENST00000304043.5	-	3	541	c.262C>G	c.(262-264)Ctg>Gtg	p.L88V	HINT1_ENST00000506207.1_5'UTR	NM_005340.6	NP_005331.1	P49773	HINT1_HUMAN	histidine triad nucleotide binding protein 1	88	HIT. {ECO:0000255|PROSITE- ProRule:PRU00464}.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|purine ribonucleotide catabolic process (GO:0009154)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|nucleotide binding (GO:0000166)|protein kinase C binding (GO:0005080)			endometrium(1)|large_intestine(1)|lung(3)	5		all_cancers(142;0.0452)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Adenosine monophosphate(DB00131)	TTCAGGCCCAGATCAGCAGCA	0.423																																						ENST00000304043.5																			0				endometrium(1)|large_intestine(1)|lung(3)	5						c.(262-264)Ctg>Gtg		histidine triad nucleotide binding protein 1	Adenosine monophosphate(DB00131)						158.0	124.0	135.0					5																	130495259		2203	4300	6503	SO:0001583	missense	3094				signal transduction	cytoplasm|cytoskeleton|nucleus	hydrolase activity|protein kinase C binding	g.chr5:130495259G>C	BC007090	CCDS4147.1	5q31.2	2010-03-30	2001-11-28	2002-03-08	ENSG00000169567	ENSG00000169567			4912	protein-coding gene	gene with protein product		601314	"""histidine triad nucleotide-binding protein"""	PRKCNH1, HINT		8812426	Standard	NM_005340		Approved	PKCI-1	uc003kve.4	P49773	OTTHUMG00000128995	ENST00000304043.5:c.262C>G	5.37:g.130495259G>C	ENSP00000304229:p.Leu88Val					HINT1_ENST00000506207.1_5'UTR	p.L88V	NM_005340.6	NP_005331.1	P49773	HINT1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		3	541	-		all_cancers(142;0.0452)|Breast(839;0.198)	88			HIT.		Q9H5W8	Missense_Mutation	SNP	ENST00000304043.5	37	c.262C>G	CCDS4147.1	.	.	.	.	.	.	.	.	.	.	G	7.636	0.679827	0.14907	.	.	ENSG00000169567	ENST00000304043	D	0.91631	-2.88	3.76	3.76	0.43208	Histidine triad motif (1);Histidine triad-like motif (1);	0.153007	0.44902	D	0.000402	D	0.84629	0.5514	L	0.38838	1.175	0.80722	D	1	B	0.06786	0.001	B	0.12156	0.007	T	0.76173	-0.3056	10	0.15499	T	0.54	-10.2193	7.3688	0.26790	0.1153:0.0:0.8847:0.0	.	88	P49773	HINT1_HUMAN	V	88	ENSP00000304229:L88V	ENSP00000304229:L88V	L	-	1	2	HINT1	130523158	0.961000	0.32948	0.999000	0.59377	0.916000	0.54674	1.786000	0.38694	2.392000	0.81423	0.484000	0.47621	CTG		0.423	HINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250984.1	NM_005340		29	47	0	0	0	1	0	29	47				
HYDIN	54768	broad.mit.edu	37	16	71218819	71218819	+	Silent	SNP	G	G	A			TCGA-FY-A40M-01A-11D-A23M-08	TCGA-FY-A40M-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f013bd51-dfbc-4f81-88ce-2d2d1188a116	738918d8-2f03-4344-a87a-21a0e1cdca57	g.chr16:71218819G>A	ENST00000393567.2	-	3	360	c.210C>T	c.(208-210)tgC>tgT	p.C70C	HYDIN_ENST00000448691.1_Silent_p.C70C|HYDIN_ENST00000448089.2_Silent_p.C70C|HYDIN_ENST00000538248.1_Silent_p.C97C|HYDIN_ENST00000393550.2_Silent_p.C70C|HYDIN_ENST00000541601.1_Silent_p.C87C|HYDIN_ENST00000288168.10_Silent_p.C87C|HYDIN_ENST00000321489.5_Silent_p.C70C	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	70					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TCTGTGGTCGGCACATCAAAC	0.458																																						ENST00000393567.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(208-210)tgC>tgT		HYDIN, axonemal central pair apparatus protein							169.0	149.0	156.0					16																	71218819		2198	4299	6497	SO:0001819	synonymous_variant	54768							g.chr16:71218819G>A	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.210C>T	16.37:g.71218819G>A						HYDIN_ENST00000541601.1_Silent_p.C87C|HYDIN_ENST00000393550.2_Silent_p.C70C|HYDIN_ENST00000321489.5_Silent_p.C70C|HYDIN_ENST00000448691.1_Silent_p.C70C|HYDIN_ENST00000288168.10_Silent_p.C87C|HYDIN_ENST00000538248.1_Silent_p.C97C|HYDIN_ENST00000448089.2_Silent_p.C70C	p.C70C	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			3	360	-		Ovarian(137;0.0654)	70					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	c.210C>T	CCDS59269.1																																																																																				0.458	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			4	90	0	0	0	1	0	4	90				
SMARCA4	6597	broad.mit.edu	37	19	11094890	11094890	+	Silent	SNP	C	C	T			TCGA-FY-A40M-01A-11D-A23M-08	TCGA-FY-A40M-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f013bd51-dfbc-4f81-88ce-2d2d1188a116	738918d8-2f03-4344-a87a-21a0e1cdca57	g.chr19:11094890C>T	ENST00000429416.3	+	3	344	c.63C>T	c.(61-63)ggC>ggT	p.G21G	SMARCA4_ENST00000344626.4_Silent_p.G21G|SMARCA4_ENST00000444061.3_Silent_p.G21G|SMARCA4_ENST00000413806.3_Silent_p.G21G|SMARCA4_ENST00000590574.1_Silent_p.G21G|SMARCA4_ENST00000589677.1_Silent_p.G21G|SMARCA4_ENST00000450717.3_Silent_p.G21G|SMARCA4_ENST00000358026.2_Silent_p.G21G|SMARCA4_ENST00000541122.2_Silent_p.G21G	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	21	Necessary for interaction with SS18L1/CREST. {ECO:0000250}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CGGGCCCTGGCCCTTCCCCTG	0.716			"""F, N, Mis"""		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"""F, N, Mis"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(61-63)ggC>ggT		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							22.0	27.0	25.0					19																	11094890		2188	4285	6473	SO:0001819	synonymous_variant	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11094890C>T	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.63C>T	19.37:g.11094890C>T						SMARCA4_ENST00000413806.3_Silent_p.G21G|SMARCA4_ENST00000450717.3_Silent_p.G21G|SMARCA4_ENST00000590574.1_Silent_p.G21G|SMARCA4_ENST00000589677.1_Silent_p.G21G|SMARCA4_ENST00000344626.4_Silent_p.G21G|SMARCA4_ENST00000541122.2_Silent_p.G21G|SMARCA4_ENST00000444061.3_Silent_p.G21G|SMARCA4_ENST00000429416.3_Silent_p.G21G	p.G21G	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			2	347	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	21			Necessary for interaction with SS18L1/CREST (By similarity).		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Silent	SNP	ENST00000429416.3	37	c.63C>T	CCDS12253.1																																																																																				0.716	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		12	32	0	0	0	1	0	12	32				
GALNTL5	168391	broad.mit.edu	37	7	151711750	151711750	+	Missense_Mutation	SNP	C	C	A			TCGA-FY-A40M-01A-11D-A23M-08	TCGA-FY-A40M-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f013bd51-dfbc-4f81-88ce-2d2d1188a116	738918d8-2f03-4344-a87a-21a0e1cdca57	g.chr7:151711750C>A	ENST00000392800.2	+	8	1302	c.1048C>A	c.(1048-1050)Ctc>Atc	p.L350I	GALNTL5_ENST00000431418.2_Missense_Mutation_p.L350I	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 5	350	Catalytic subdomain B.				spermatid development (GO:0007286)	endosome (GO:0005768)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		TGGAGGCCAACTCTTTATAAT	0.383																																						ENST00000392800.2																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32						c.(1048-1050)Ctc>Atc		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5							140.0	126.0	130.0					7																	151711750		2203	4300	6503	SO:0001583	missense	168391					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	g.chr7:151711750C>A	AF440400	CCDS5929.1	7q36.2	2014-03-13	2014-03-13	2004-07-28	ENSG00000106648	ENSG00000106648		"""Glycosyltransferase family 2 domain containing"""	21725	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 5"""	615133	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5"""	GALNT15			Standard	NM_145292		Approved	GalNAc-T5L	uc003wkp.3	Q7Z4T8	OTTHUMG00000157306	ENST00000392800.2:c.1048C>A	7.37:g.151711750C>A	ENSP00000376548:p.Leu350Ile					GALNTL5_ENST00000431418.2_Missense_Mutation_p.L350I	p.L350I	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)	8	1302	+	all_neural(206;0.187)	all_hematologic(28;0.0749)	350			Catalytic subdomain B.		Q75KN2|Q75MD3|Q8NCV4|Q8WW05|Q9UDR9	Missense_Mutation	SNP	ENST00000392800.2	37	c.1048C>A	CCDS5929.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.931263	0.52866	.	.	ENSG00000106648	ENST00000431418;ENST00000392800	T;T	0.39229	1.09;1.09	3.73	2.84	0.33178	.	0.000000	0.33235	N	0.005121	T	0.50069	0.1594	L	0.48362	1.52	0.38003	D	0.934308	D;P	0.58970	0.984;0.94	P;B	0.61477	0.889;0.389	T	0.53968	-0.8363	10	0.56958	D	0.05	.	9.5748	0.39450	0.2101:0.7898:0.0:0.0	.	101;350	A8MZD3;Q7Z4T8	.;GLTL5_HUMAN	I	350	ENSP00000392582:L350I;ENSP00000376548:L350I	ENSP00000376548:L350I	L	+	1	0	GALNTL5	151342683	1.000000	0.71417	0.440000	0.26846	0.947000	0.59692	3.671000	0.54576	0.759000	0.33084	0.491000	0.48974	CTC		0.383	GALNTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348395.1	NM_145292		39	33	1	0	2.24893e-16	1	2.24893e-16	39	33				
MLLT3	4300	broad.mit.edu	37	9	20414313	20414313	+	Silent	SNP	G	G	A			TCGA-FY-A40M-01A-11D-A23M-08	TCGA-FY-A40M-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f013bd51-dfbc-4f81-88ce-2d2d1188a116	738918d8-2f03-4344-a87a-21a0e1cdca57	g.chr9:20414313G>A	ENST00000380338.4	-	5	817	c.531C>T	c.(529-531)agC>agT	p.S177S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S174S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	177	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.527			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		0				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(529-531)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							22.0	31.0	28.0					9																	20414313		2066	3973	6039	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414313G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.531C>T	9.37:g.20414313G>A						MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S174S|MLLT3_ENST00000475957.1_5'UTR	p.S177S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	817	-			177			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.531C>T	CCDS6494.1																																																																																				0.527	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		4	62	0	0	0	1	0	4	62				
LTBP1	4052	broad.mit.edu	37	2	33585808	33585808	+	Missense_Mutation	SNP	A	A	T			TCGA-FY-A40M-01A-11D-A23M-08	TCGA-FY-A40M-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f013bd51-dfbc-4f81-88ce-2d2d1188a116	738918d8-2f03-4344-a87a-21a0e1cdca57	g.chr2:33585808A>T	ENST00000404816.2	+	27	4498	c.4145A>T	c.(4144-4146)gAt>gTt	p.D1382V	LTBP1_ENST00000407925.1_Missense_Mutation_p.D1056V|LTBP1_ENST00000272273.5_Missense_Mutation_p.D280V|LTBP1_ENST00000354476.3_Missense_Mutation_p.D1383V|LTBP1_ENST00000418533.2_Missense_Mutation_p.D1014V|LTBP1_ENST00000404525.1_Missense_Mutation_p.D1003V|LTBP1_ENST00000390003.4_Missense_Mutation_p.D1057V|LTBP1_ENST00000402934.1_Missense_Mutation_p.D1001V			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1382	TB 3.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GGATGGGGAGATAACTGCGAA	0.502																																						ENST00000404816.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108						c.(4144-4146)gAt>gTt		latent transforming growth factor beta binding protein 1							112.0	101.0	105.0					2																	33585808		2203	4300	6503	SO:0001583	missense	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33585808A>T		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.4145A>T	2.37:g.33585808A>T	ENSP00000386043:p.Asp1382Val					LTBP1_ENST00000272273.5_Missense_Mutation_p.D280V|LTBP1_ENST00000390003.4_Missense_Mutation_p.D1057V|LTBP1_ENST00000418533.2_Missense_Mutation_p.D1014V|LTBP1_ENST00000354476.3_Missense_Mutation_p.D1383V|LTBP1_ENST00000402934.1_Missense_Mutation_p.D1001V|LTBP1_ENST00000404525.1_Missense_Mutation_p.D1003V|LTBP1_ENST00000407925.1_Missense_Mutation_p.D1056V	p.D1382V			Q14766	LTBP1_HUMAN			27	4498	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	1382			TB 3.		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.4145A>T	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	A	17.91	3.504104	0.64410	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925;ENST00000272273;ENST00000422669	D;D;D;D;D;D;D;D;D	0.92752	-3.1;-3.1;-3.1;-3.1;-3.1;-3.1;-3.1;-3.1;-3.1	5.07	5.07	0.68467	Matrix fibril-associated (3);TGF-beta binding (1);	.	.	.	.	D	0.96081	0.8723	M	0.83483	2.645	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;1.0;0.999;0.988;0.999;0.999;1.0	D	0.96662	0.9490	9	0.72032	D	0.01	.	15.135	0.72558	1.0:0.0:0.0:0.0	.	280;1382;1014;1003;1056;1057;1383	E7EUU6;Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	.;LTBP1_HUMAN;.;.;.;.;.	V	1382;1383;1057;1014;1001;1003;1056;280;218	ENSP00000386043:D1382V;ENSP00000346467:D1383V;ENSP00000374653:D1057V;ENSP00000393057:D1014V;ENSP00000384373:D1001V;ENSP00000385359:D1003V;ENSP00000384091:D1056V;ENSP00000272273:D280V;ENSP00000395211:D218V	ENSP00000272273:D280V	D	+	2	0	LTBP1	33439312	1.000000	0.71417	0.510000	0.27712	0.309000	0.27889	9.221000	0.95188	2.020000	0.59435	0.460000	0.39030	GAT		0.502	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		31	39	0	0	0	1	0	31	39				
ABCA12	26154	broad.mit.edu	37	2	215845310	215845310	+	Missense_Mutation	SNP	C	C	T			TCGA-FY-A40M-01A-11D-A23M-08	TCGA-FY-A40M-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f013bd51-dfbc-4f81-88ce-2d2d1188a116	738918d8-2f03-4344-a87a-21a0e1cdca57	g.chr2:215845310C>T	ENST00000272895.7	-	31	4856	c.4637G>A	c.(4636-4638)cGc>cAc	p.R1546H	ABCA12_ENST00000389661.4_Missense_Mutation_p.R1228H	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1546	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.		R -> C (in dbSNP:rs13401480).		cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)	p.R1546H(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GAAGGCGATGCGGTCACTCAG	0.512																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			1	Substitution - Missense(1)	p.R1546H(1)	large_intestine(1)	NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(4636-4638)cGc>cAc		ATP-binding cassette, sub-family A (ABC1), member 12							131.0	118.0	122.0					2																	215845310		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215845310C>T	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.4637G>A	2.37:g.215845310C>T	ENSP00000272895:p.Arg1546His					ABCA12_ENST00000389661.4_Missense_Mutation_p.R1228H	p.R1546H	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	31	4856	-		Renal(323;0.127)	1546		R -> C (in dbSNP:rs13401480).	ABC transporter 1.		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.4637G>A	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	35	5.529593	0.96446	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	T;T	0.79247	-1.25;-1.25	5.95	5.95	0.96441	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.64402	D	0.000004	D	0.88647	0.6493	M	0.73430	2.235	0.80722	D	1	D;D	0.89917	1.0;0.997	D;P	0.91635	0.999;0.761	D	0.87648	0.2526	10	0.52906	T	0.07	.	20.4024	0.99000	0.0:1.0:0.0:0.0	.	1546;1228	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	H	1546;1228	ENSP00000272895:R1546H;ENSP00000374312:R1228H	ENSP00000272895:R1546H	R	-	2	0	ABCA12	215553555	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.827000	0.97445	0.650000	0.86243	CGC		0.512	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		4	60	0	0	0	1	0	4	60				
SLITRK4	139065	broad.mit.edu	37	X	142717102	142717102	+	Missense_Mutation	SNP	C	C	T			TCGA-FY-A40M-01A-11D-A23M-08	TCGA-FY-A40M-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f013bd51-dfbc-4f81-88ce-2d2d1188a116	738918d8-2f03-4344-a87a-21a0e1cdca57	g.chrX:142717102C>T	ENST00000381779.4	-	2	2048	c.1823G>A	c.(1822-1824)cGa>cAa	p.R608Q	SLITRK4_ENST00000356928.1_Missense_Mutation_p.R608Q|SLITRK4_ENST00000338017.4_Missense_Mutation_p.R608Q	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	608						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					AGGAGGACTTCGAATGGGACC	0.418																																						ENST00000381779.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60						c.(1822-1824)cGa>cAa		SLIT and NTRK-like family, member 4							87.0	89.0	88.0					X																	142717102		2203	4300	6503	SO:0001583	missense	139065					integral to membrane		g.chrX:142717102C>T	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.1823G>A	X.37:g.142717102C>T	ENSP00000371198:p.Arg608Gln					SLITRK4_ENST00000338017.4_Missense_Mutation_p.R608Q|SLITRK4_ENST00000356928.1_Missense_Mutation_p.R608Q	p.R608Q	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN			2	2048	-	Acute lymphoblastic leukemia(192;6.56e-05)		608					Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	ENST00000381779.4	37	c.1823G>A	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	C	7.023	0.559176	0.13436	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.51817	0.69;0.69;0.69	5.71	5.71	0.89125	.	0.065074	0.64402	U	0.000010	T	0.27454	0.0674	N	0.12182	0.205	0.40400	D	0.979634	B	0.24882	0.113	B	0.23716	0.048	T	0.18085	-1.0348	10	0.13108	T	0.6	-3.8326	10.8842	0.46957	0.0:0.9118:0.0:0.0882	.	608	Q8IW52	SLIK4_HUMAN	Q	608	ENSP00000371198:R608Q;ENSP00000349400:R608Q;ENSP00000336627:R608Q	ENSP00000336627:R608Q	R	-	2	0	SLITRK4	142544768	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.902000	0.56310	2.404000	0.81709	0.600000	0.82982	CGA		0.418	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		12	118	0	0	0	1	0	12	118				
ANKH	56172	broad.mit.edu	37	5	14769190	14769190	+	Silent	SNP	G	G	A			TCGA-FY-A40M-01A-11D-A23M-08	TCGA-FY-A40M-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f013bd51-dfbc-4f81-88ce-2d2d1188a116	738918d8-2f03-4344-a87a-21a0e1cdca57	g.chr5:14769190G>A	ENST00000284268.6	-	2	537	c.207C>T	c.(205-207)ttC>ttT	p.F69F		NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	69					locomotory behavior (GO:0007626)|regulation of bone mineralization (GO:0030500)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	inorganic diphosphate transmembrane transporter activity (GO:0030504)|inorganic phosphate transmembrane transporter activity (GO:0005315)|phosphate ion transmembrane transporter activity (GO:0015114)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						CCACATTTTTGAAGTCACTCA	0.567																																						ENST00000284268.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(205-207)ttC>ttT		ANKH inorganic pyrophosphate transport regulator							76.0	70.0	72.0					5																	14769190		2203	4300	6503	SO:0001819	synonymous_variant	56172				locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity	g.chr5:14769190G>A	AF274753	CCDS3885.1	5p15.2	2013-06-19	2013-06-19		ENSG00000154122	ENSG00000154122			15492	protein-coding gene	gene with protein product		605145	"""ankylosis, progressive (mouse) homolog"", ""craniometaphyseal dysplasia, Jackson type (dominant)"", ""ankylosis, progressive homolog (mouse)"""	CCAL2, CMDJ		10894769, 12297989, 11326338	Standard	NM_054027		Approved	HANK, ANK, CPPDD	uc003jfm.4	Q9HCJ1	OTTHUMG00000090539	ENST00000284268.6:c.207C>T	5.37:g.14769190G>A							p.F69F	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN			2	537	-			69					B2RCA7|B3KMG4|D3DTD4|Q9NQW2	Silent	SNP	ENST00000284268.6	37	c.207C>T	CCDS3885.1																																																																																				0.567	ANKH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207063.1	NM_054027		22	16	0	0	0	1	0	22	16				
PRG4	10216	broad.mit.edu	37	1	186275982	186275982	+	Silent	SNP	C	C	T			TCGA-FY-A40M-01A-11D-A23M-08	TCGA-FY-A40M-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f013bd51-dfbc-4f81-88ce-2d2d1188a116	738918d8-2f03-4344-a87a-21a0e1cdca57	g.chr1:186275982C>T	ENST00000445192.2	+	7	1176	c.1131C>T	c.(1129-1131)acC>acT	p.T377T	PRG4_ENST00000367483.4_Silent_p.T336T|PRG4_ENST00000367486.3_Silent_p.T334T|PRG4_ENST00000367485.4_Silent_p.T284T|PRG4_ENST00000367484.3_Silent_p.T336T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	377	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCCACCACCCCCAAGGAGC	0.637																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1129-1131)acC>acT		proteoglycan 4							171.0	164.0	166.0					1																	186275982		2203	4300	6503	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186275982C>T	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1131C>T	1.37:g.186275982C>T						PRG4_ENST00000367484.3_Silent_p.T336T|PRG4_ENST00000367486.3_Silent_p.T334T|PRG4_ENST00000367483.4_Silent_p.T336T|PRG4_ENST00000367485.4_Silent_p.T284T	p.T377T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1176	+			377			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.1131C>T	CCDS1369.1																																																																																				0.637	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		4	174	0	0	0	1	0	4	174				
KRTAP5-10	387273	broad.mit.edu	37	11	71276851	71276851	+	Missense_Mutation	SNP	A	A	G	rs201070584	byFrequency	TCGA-FY-A40M-01A-11D-A23M-08	TCGA-FY-A40M-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f013bd51-dfbc-4f81-88ce-2d2d1188a116	738918d8-2f03-4344-a87a-21a0e1cdca57	g.chr11:71276851A>G	ENST00000398531.1	+	1	243	c.218A>G	c.(217-219)gAc>gGc	p.D73G	KRTAP5-10_ENST00000376536.4_Missense_Mutation_p.D73G	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	73	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						TCCAAGGGGGACTGTGGCTCT	0.672																																						ENST00000398531.1																			0				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						c.(217-219)gAc>gGc		keratin associated protein 5-10							62.0	84.0	77.0					11																	71276851		2190	4281	6471	SO:0001583	missense	387273					keratin filament		g.chr11:71276851A>G	AB126079	CCDS41684.1	11q13.4	2008-02-05			ENSG00000204572	ENSG00000204572		"""Keratin associated proteins"""	23605	protein-coding gene	gene with protein product						15144888	Standard	NM_001012710		Approved	KRTAP5.10	uc001oqt.1	Q6L8G5	OTTHUMG00000057585	ENST00000398531.1:c.218A>G	11.37:g.71276851A>G	ENSP00000381542:p.Asp73Gly					KRTAP5-10_ENST00000376536.4_Missense_Mutation_p.D73G	p.D73G	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN			1	243	+			73			7 X 4 AA repeats of C-C-X-P.		B9EHA4	Missense_Mutation	SNP	ENST00000398531.1	37	c.218A>G	CCDS41684.1	.	.	.	.	.	.	.	.	.	.	g	2.213	-0.380257	0.05000	.	.	ENSG00000204572	ENST00000398531;ENST00000376536	T;T	0.00864	5.6;5.69	1.84	0.898	0.19264	.	.	.	.	.	T	0.00300	0.0009	N	0.00063	-2.32	0.19575	N	0.999969	B	0.02656	0.0	B	0.01281	0.0	T	0.46816	-0.9164	9	0.59425	D	0.04	.	6.0403	0.19730	0.3144:0.0:0.6856:0.0	.	73	Q6L8G5	KR510_HUMAN	G	73	ENSP00000381542:D73G;ENSP00000365719:D73G	ENSP00000365719:D73G	D	+	2	0	KRTAP5-10	70954499	0.827000	0.29292	0.711000	0.30485	0.001000	0.01503	2.306000	0.43673	-0.017000	0.14103	-0.492000	0.04666	GAC		0.672	KRTAP5-10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000127968.2			23	286	0	0	0	1	0	23	286				
BNC2	54796	broad.mit.edu	37	9	16727837	16727837	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FY-A40M-01A-11D-A23M-08	TCGA-FY-A40M-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f013bd51-dfbc-4f81-88ce-2d2d1188a116	738918d8-2f03-4344-a87a-21a0e1cdca57	g.chr9:16727837C>T	ENST00000380672.4	-	3	345	c.288G>A	c.(286-288)tgG>tgA	p.W96*	BNC2_ENST00000380666.2_Nonsense_Mutation_p.W96*|RP11-62F24.2_ENST00000450445.1_RNA|BNC2_ENST00000380667.2_Intron|BNC2_ENST00000545497.1_Intron	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		CAGCGTTTTGCCATGTCCCCA	0.403																																						ENST00000380672.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60						c.(286-288)tgG>tgA		basonuclin 2							257.0	235.0	243.0					9																	16727837		2203	4300	6503	SO:0001587	stop_gained	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16727837C>T	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.288G>A	9.37:g.16727837C>T	ENSP00000370047:p.Trp96*					BNC2_ENST00000380666.2_Nonsense_Mutation_p.W96*|BNC2_ENST00000545497.1_Intron|BNC2_ENST00000380667.2_Intron	p.W96*	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	3	345	-			96						Nonsense_Mutation	SNP	ENST00000380672.4	37	c.288G>A	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	C	37	6.055454	0.97241	.	.	ENSG00000173068	ENST00000380672;ENST00000418777;ENST00000456672;ENST00000436939;ENST00000380666;ENST00000540340	.	.	.	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.2991	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	96;53;96;96;96;96	.	ENSP00000370041:W96X	W	-	3	0	BNC2	16717837	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.266000	0.78452	2.941000	0.99782	0.655000	0.94253	TGG		0.403	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		4	155	0	0	0	1	0	4	155				
ZNF385D	79750	broad.mit.edu	37	3	21462850	21462850	+	Silent	SNP	T	T	A			TCGA-FY-A40M-01A-11D-A23M-08	TCGA-FY-A40M-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f013bd51-dfbc-4f81-88ce-2d2d1188a116	738918d8-2f03-4344-a87a-21a0e1cdca57	g.chr3:21462850T>A	ENST00000281523.2	-	8	1562	c.1044A>T	c.(1042-1044)gcA>gcT	p.A348A		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	348	Poly-Ala.					nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						TCActgccactgctgctgcgg	0.542																																						ENST00000281523.2																			0				NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						c.(1042-1044)gcA>gcT		zinc finger protein 385D							37.0	40.0	39.0					3																	21462850		2203	4300	6503	SO:0001819	synonymous_variant	79750					nucleus	nucleic acid binding|zinc ion binding	g.chr3:21462850T>A	BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"""zinc finger protein 659"""	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.1044A>T	3.37:g.21462850T>A							p.A348A	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN			8	1562	-			348			Poly-Ala.			Silent	SNP	ENST00000281523.2	37	c.1044A>T	CCDS2636.1																																																																																				0.542	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	NM_024697		11	17	0	0	0	1	0	11	17				
COL8A1	1295	broad.mit.edu	37	3	99514780	99514780	+	Missense_Mutation	SNP	T	T	A			TCGA-FY-A40M-01A-11D-A23M-08	TCGA-FY-A40M-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f013bd51-dfbc-4f81-88ce-2d2d1188a116	738918d8-2f03-4344-a87a-21a0e1cdca57	g.chr3:99514780T>A	ENST00000261037.3	+	5	2415	c.2035T>A	c.(2035-2037)Ttc>Atc	p.F679I	COL8A1_ENST00000273342.4_Missense_Mutation_p.F679I	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	679	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.|Nonhelical region (NC1).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen type VIII trimer (GO:0005591)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GGTTGCTCTATTCAAGAACAA	0.557																																						ENST00000261037.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						c.(2035-2037)Ttc>Atc		collagen, type VIII, alpha 1							92.0	85.0	87.0					3																	99514780		2203	4300	6503	SO:0001583	missense	1295				angiogenesis|cell adhesion	basement membrane|collagen type VIII		g.chr3:99514780T>A	AF170702	CCDS2934.1	3q11.1-q13.2	2013-01-16			ENSG00000144810	ENSG00000144810		"""Collagens"""	2215	protein-coding gene	gene with protein product		120251	"""chromosome 3 open reading frame 7"""	C3orf7		2029894	Standard	NM_001850		Approved	MGC9568	uc003dth.2	P27658	OTTHUMG00000148669	ENST00000261037.3:c.2035T>A	3.37:g.99514780T>A	ENSP00000261037:p.Phe679Ile					COL8A1_ENST00000273342.4_Missense_Mutation_p.F679I	p.F679I	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN			5	2415	+			679			C1q.|Nonhelical region (NC1).		D3DN42|Q53XI6|Q96D07	Missense_Mutation	SNP	ENST00000261037.3	37	c.2035T>A	CCDS2934.1	.	.	.	.	.	.	.	.	.	.	T	16.23	3.064235	0.55432	.	.	ENSG00000144810	ENST00000261037;ENST00000273342	T;T	0.74632	-0.86;-0.86	6.08	6.08	0.98989	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.144057	0.64402	D	0.000006	T	0.72614	0.3482	L	0.39245	1.2	0.42564	D	0.993152	D;D	0.55385	0.971;0.971	P;P	0.47981	0.563;0.563	T	0.76345	-0.2993	10	0.66056	D	0.02	.	14.6032	0.68456	0.0:0.0:0.0:1.0	.	680;679	E7EPK9;P27658	.;CO8A1_HUMAN	I	679	ENSP00000261037:F679I;ENSP00000273342:F679I	ENSP00000261037:F679I	F	+	1	0	COL8A1	100997470	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.071000	0.64382	2.333000	0.79357	0.482000	0.46254	TTC		0.557	COL8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309001.1	NM_001850		28	34	0	0	0	1	0	28	34				
AC105399.2	0	broad.mit.edu	37	2	78019880	78019880	+	RNA	DEL	T	T	-			TCGA-FY-A40M-01A-11D-A23M-08	TCGA-FY-A40M-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f013bd51-dfbc-4f81-88ce-2d2d1188a116	738918d8-2f03-4344-a87a-21a0e1cdca57	g.chr2:78019880delT	ENST00000422418.1	+	0	130																											TAAAAATTCCTTTTTTTTTTT	0.393																																						ENST00000422418.1																			0																																																			0							g.chr2:78019880delT																													2.37:g.78019880delT														0	130	+									RNA	DEL	ENST00000422418.1	37																																																																																						0.393	AC105399.2-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000328256.1			2	4						2	4	---	---	---	---
KRT8P40	100418728	broad.mit.edu	37	2	178063145	178063168	+	RNA	DEL	TGGGCTCCAGCTTTGGCTCTGGCG	TGGGCTCCAGCTTTGGCTCTGGCG	-	rs146959895	byFrequency	TCGA-FY-A40M-01A-11D-A23M-08	TCGA-FY-A40M-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f013bd51-dfbc-4f81-88ce-2d2d1188a116	738918d8-2f03-4344-a87a-21a0e1cdca57	g.chr2:178063145_178063168delTGGGCTCCAGCTTTGGCTCTGGCG	ENST00000455416.1	-	0	166																											AGCTACGGCCTGGGCTCCAGCTTTGGCTCTGGCGTGGGCTCCAG	0.598														674	0.134585	0.3533	0.0965	5008	,	,		21433	0.0		0.1054	False		,,,				2504	0.0348					ENST00000455416.1																			0																																																			0							g.chr2:178063145_178063168delTGGGCTCCAGCTTTGGCTCTGGCG																													2.37:g.178063145_178063168delTGGGCTCCAGCTTTGGCTCTGGCG														0	166	-									RNA	DEL	ENST00000455416.1	37																																																																																						0.598	AC079305.8-001	KNOWN	not_organism_supported|basic	antisense	antisense	OTTHUMT00000333896.1			5	9						5	9	---	---	---	---
UBA6-AS1	550112	broad.mit.edu	37	4	68632418	68632419	+	RNA	INS	-	-	ACACACAT	rs141790878|rs2627241		TCGA-FY-A40M-01A-11D-A23M-08	TCGA-FY-A40M-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f013bd51-dfbc-4f81-88ce-2d2d1188a116	738918d8-2f03-4344-a87a-21a0e1cdca57	g.chr4:68632418_68632419insACACACAT	ENST00000500538.2	+	0	1905				UBA6-AS1_ENST00000502758.1_RNA					UBA6 antisense RNA 1 (head to head)																		cacacacacacaTATATATAct	0.431																																						ENST00000500538.2																			0																																																			0							g.chr4:68632418_68632419insACACACAT			4q13.2	2014-01-15			ENSG00000248049	ENSG00000248049		"""Long non-coding RNAs"""	49083	non-coding RNA	RNA, long non-coding							Standard	NR_015439		Approved	LOC550112			OTTHUMG00000160769		4.37:g.68632418_68632419insACACACAT						RP11-453E17.1_ENST00000502758.1_RNA								0	1905	+									RNA	INS	ENST00000500538.2	37																																																																																						0.431	UBA6-AS1-002	KNOWN	basic	antisense	antisense	OTTHUMT00000362199.2			9	6						9	6	---	---	---	---
MSH3	4437	broad.mit.edu	37	5	79950742	79950750	+	In_Frame_Del	DEL	CCCCCAGCT	CCCCCAGCT	-	rs144629981|rs3045983|rs557874766|rs1047489	byFrequency	TCGA-FY-A40M-01A-11D-A23M-08	TCGA-FY-A40M-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f013bd51-dfbc-4f81-88ce-2d2d1188a116	738918d8-2f03-4344-a87a-21a0e1cdca57	g.chr5:79950742_79950750delCCCCCAGCT	ENST00000265081.6	+	1	276_284	c.196_204delCCCCCAGCT	c.(196-204)cccccagctdel	p.PPA66del	DHFR_ENST00000505337.1_5'Flank|DHFR_ENST00000504396.1_5'Flank|DHFR_ENST00000439211.2_5'UTR|DHFR_ENST00000511032.1_5'Flank|DHFR_ENST00000513048.1_5'Flank	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	66					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		gCCCCCAGCGCCCCCAGCTCCCGCCTTCC	0.732								Mismatch excision repair (MMR)						1174	0.234425	0.2874	0.2061	5008	,	,		7173	0.0565		0.2535	False		,,,				2504	0.3466				Melanoma(88;1010 1399 13793 26548 36275)	ENST00000265081.6																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(196-204)del	Mismatch excision repair (MMR)	mutS homolog 3			,	1105,2179		342,421,879					,	4.0	1.0		dbSNP_102	4	1941,4615		567,807,1904	no	coding,utr-5	DHFR,MSH3	NM_002439.3,NM_000791.3	,	909,1228,2783	A1A1,A1R,RR		29.6065,33.648,30.9553	,	,		3046,6794				SO:0001651	inframe_deletion	4437				maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding	g.chr5:79950742_79950750delCCCCCAGCT	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.196_204delCCCCCAGCT	5.37:g.79950742_79950750delCCCCCAGCT	ENSP00000265081:p.Pro66_Ala68del					DHFR_ENST00000439211.2_5'UTR	p.PPA66del	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)	1	276_284	+		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)	66					A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	In_Frame_Del	DEL	ENST00000265081.6	37	c.196_204delCCCCCAGCT	CCDS34195.1																																																																																				0.732	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439		8	5						8	5	---	---	---	---
CCT6P1	643253	broad.mit.edu	37	7	65222951	65222951	+	RNA	DEL	T	T	-	rs564902644	byFrequency	TCGA-FY-A40M-01A-11D-A23M-08	TCGA-FY-A40M-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f013bd51-dfbc-4f81-88ce-2d2d1188a116	738918d8-2f03-4344-a87a-21a0e1cdca57	g.chr7:65222951delT	ENST00000442266.1	+	0	561				SNORA15_ENST00000384058.1_RNA|SNORA22_ENST00000383907.1_RNA					chaperonin containing TCP1, subunit 6 (zeta) pseudogene 1																		TTTCTGTAACTTTTTTTTTTT	0.323													|||unknown(NO_COVERAGE)	42	0.00838658	0.0159	0.0014	5008	,	,		17660	0.004		0.005	False		,,,				2504	0.0112					ENST00000442266.1																			0																																																			0							g.chr7:65222951delT	BC052238, BC073761		7q11.21	2010-06-29	2008-09-22	2008-09-22	ENSG00000228409	ENSG00000228409			33094	pseudogene	pseudogene			"""chaperonin containing TCP1, subunit 6A (zeta 1) pseudogene 1"""	CCT6AP1			Standard	NR_003110		Approved		uc003tug.3		OTTHUMG00000156733		7.37:g.65222951delT														0	561	+									RNA	DEL	ENST00000442266.1	37																																																																																						0.323	CCT6P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345507.1	NR_003110		3	5						3	5	---	---	---	---
PODXL	5420	broad.mit.edu	37	7	131241030	131241035	+	In_Frame_Del	DEL	GGCGAC	GGCGAC	-	rs11277659|rs547816245|rs532078953	byFrequency	TCGA-FY-A40M-01A-11D-A23M-08	TCGA-FY-A40M-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f013bd51-dfbc-4f81-88ce-2d2d1188a116	738918d8-2f03-4344-a87a-21a0e1cdca57	g.chr7:131241030_131241035delGGCGAC	ENST00000378555.3	-	1	331_336	c.84_89delGTCGCC	c.(82-90)ccgtcgccc>ccc	p.28_30PSP>P	PODXL_ENST00000465001.1_Intron|PODXL_ENST00000322985.9_In_Frame_Del_p.28_30PSP>P|PODXL_ENST00000537928.1_In_Frame_Del_p.28_30PSP>P|PODXL_ENST00000541194.1_In_Frame_Del_p.28_30PSP>P			O00592	PODXL_HUMAN	podocalyxin-like	28					cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)		p.P30_S31delPS(2)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					ATTCTGGGAGggcgacggcgacggcg	0.748																																						ENST00000541194.1																			2	Deletion - In frame(2)	p.P30_S31delPS(2)	prostate(2)	NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						c.(82-90)ccc>cc		podocalyxin-like																																				SO:0001651	inframe_deletion	5420				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		g.chr7:131241030_131241035delGGCGAC		CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.84_89delGTCGCC	7.37:g.131241036_131241041delGGCGAC	ENSP00000367817:p.Pro30_Ser31del					PODXL_ENST00000465001.1_Intron|PODXL_ENST00000378555.3_In_Frame_Del_p.PSP28del|PODXL_ENST00000537928.1_In_Frame_Del_p.PSP28del|PODXL_ENST00000322985.9_In_Frame_Del_p.PSP28del	p.PSP28del	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN			1	341_346	-	Melanoma(18;0.162)		28					A6NHX8|Q52LZ7|Q53ER6	In_Frame_Del	DEL	ENST00000378555.3	37	c.84_89delGTCGCC	CCDS34755.1																																																																																				0.748	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	NM_001018111		5	10						5	10	---	---	---	---
MNX1	3110	broad.mit.edu	37	7	156802527	156802529	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-FY-A40M-01A-11D-A23M-08	TCGA-FY-A40M-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f013bd51-dfbc-4f81-88ce-2d2d1188a116	738918d8-2f03-4344-a87a-21a0e1cdca57	g.chr7:156802527_156802529delGCC	ENST00000252971.6	-	1	816_818	c.516_518delGGC	c.(514-519)gcggct>gct	p.172_173AA>A	MNX1-AS1_ENST00000480284.1_RNA|MNX1_ENST00000469500.1_5'Flank|MNX1_ENST00000543409.1_5'Flank|MNX1-AS2_ENST00000429228.1_RNA	NM_005515.3	NP_005506.3	P50219	MNX1_HUMAN	motor neuron and pancreas homeobox 1	172	Poly-Ala.				anatomical structure morphogenesis (GO:0009653)|diaphragm development (GO:0060539)|dorsal/ventral neural tube patterning (GO:0021904)|endocrine pancreas development (GO:0031018)|humoral immune response (GO:0006959)|motor neuron axon guidance (GO:0008045)|nerve development (GO:0021675)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGCCAGCGCAGCCGCCGCCGCCG	0.803																																						ENST00000252971.6																			0				endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7						c.(514-519)gct>gc		motor neuron and pancreas homeobox 1				5,233		1,3,115						-3.2	1.0			2	20,1110		4,12,549	no	coding	MNX1	NM_005515.3		5,15,664	A1A1,A1R,RR		1.7699,2.1008,1.8275				25,1343				SO:0001651	inframe_deletion	3110				humoral immune response|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:156802527_156802529delGCC	AF107457	CCDS34788.1, CCDS55187.1	7q36	2012-03-09	2007-08-09	2007-08-09	ENSG00000130675	ENSG00000130675		"""Homeoboxes / ANTP class : HOXL subclass"""	4979	protein-coding gene	gene with protein product		142994	"""homeo box HB9"", ""homeobox HB9"""	HLXB9		9843207	Standard	NM_001165255		Approved	HB9, HOXHB9, SCRA1	uc003wmz.4	P50219	OTTHUMG00000157181	ENST00000252971.6:c.516_518delGGC	7.37:g.156802536_156802538delGCC	ENSP00000252971:p.Ala174del						p.AA172del	NM_005515.3	NP_005506.3	P50219	MNX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	1	816_818	-	Ovarian(565;0.218)	all_hematologic(28;0.0592)	172			Poly-Ala.		F5H401|Q9Y648	In_Frame_Del	DEL	ENST00000252971.6	37	c.516_518delGGC	CCDS34788.1																																																																																				0.803	MNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347796.3			2	4						2	4	---	---	---	---
KRT1	3848	broad.mit.edu	37	12	53069236	53069256	+	In_Frame_Del	DEL	TAGCTGCTACCTCCGGAGCCA	TAGCTGCTACCTCCGGAGCCA	-	rs371843007|rs77846840|rs540699806|rs267607656	byFrequency	TCGA-FY-A40M-01A-11D-A23M-08	TCGA-FY-A40M-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f013bd51-dfbc-4f81-88ce-2d2d1188a116	738918d8-2f03-4344-a87a-21a0e1cdca57	g.chr12:53069236_53069256delTAGCTGCTACCTCCGGAGCCA	ENST00000252244.3	-	9	1714_1734	c.1656_1676delTGGCTCCGGAGGTAGCAGCTA	c.(1654-1677)tatggctccggaggtagcagctac>tac	p.552_559YGSGGSSY>Y		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	552	Gly/Ser-rich.|Tail.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)	p.S557_G563delSSYGSGG(3)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						tccggagccgtagctgctacctccggagccatagctgccac	0.688																																						ENST00000252244.3																			3	Deletion - In frame(3)	p.S557_G563delSSYGSGG(3)	prostate(2)|central_nervous_system(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						c.(1654-1677)tac>ta		keratin 1				1239,2109		396,447,831				http://www.ncbi.nlm.nih.gov/sites/varvu?gene		-4.4	0.0		dbSNP_129	4	2732,4060		826,1080,1490	no	coding	KRT1	NM_006121.3		1222,1527,2321	A1A1,A1R,RR		40.2238,37.0072,39.1617				3971,6169				SO:0001651	inframe_deletion	3848				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding	g.chr12:53069236_53069256delTAGCTGCTACCTCCGGAGCCA	X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6412	protein-coding gene	gene with protein product		139350	"""epidermolytic hyperkeratosis 1"""	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.1656_1676delTGGCTCCGGAGGTAGCAGCTA	12.37:g.53069236_53069256delTAGCTGCTACCTCCGGAGCCA	ENSP00000252244:p.Tyr552_Ser558del						p.YGSGGSSY552del	NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN			9	1714_1734	-			552			Gly/Ser-rich.|Tail.		B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	In_Frame_Del	DEL	ENST00000252244.3	37	c.1656_1676delTGGCTCCGGAGGTAGCAGCTA	CCDS8836.1																																																																																				0.688	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405706.1	NM_006121		8	3						8	3	---	---	---	---
EP400	57634	broad.mit.edu	37	12	132547093	132547094	+	In_Frame_Ins	INS	-	-	CAG	rs10902490|rs113304321|rs528214697	byFrequency	TCGA-FY-A40M-01A-11D-A23M-08	TCGA-FY-A40M-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f013bd51-dfbc-4f81-88ce-2d2d1188a116	738918d8-2f03-4344-a87a-21a0e1cdca57	g.chr12:132547093_132547094insCAG	ENST00000333577.4	+	48	8398_8399	c.8289_8290insCAG	c.(8290-8292)cag>CAGcag	p.2764_2764Q>QQ	EP400_ENST00000330386.6_In_Frame_Ins_p.2647_2647Q>QQ|EP400_ENST00000389562.2_In_Frame_Ins_p.2727_2727Q>QQ|EP400_ENST00000389561.2_In_Frame_Ins_p.2728_2728Q>QQ|EP400_ENST00000332482.4_In_Frame_Ins_p.2691_2691Q>QQ			Q96L91	EP400_HUMAN	E1A binding protein p400	2764	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagca	0.564														1869	0.373203	0.3427	0.513	5008	,	,		15674	0.2391		0.4722	False		,,,				2504	0.3517					ENST00000333577.4																			9	Substitution - coding silent(9)	p.Q2726Q(9)	lung(3)|kidney(2)|endometrium(2)|central_nervous_system(2)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8287-8292)caagca>caCAGagca		E1A binding protein p400																																				SO:0001652	inframe_insertion	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547093_132547094insCAG	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8329_8331dupCAG	12.37:g.132547100_132547102dupCAG	ENSP00000333602:p.Gln2784dup					EP400_ENST00000332482.4_In_Frame_Ins_p.2690_2690Q>HR|EP400_ENST00000330386.6_In_Frame_Ins_p.2646_2646Q>HR|EP400_ENST00000389561.2_In_Frame_Ins_p.2727_2727Q>HR|EP400_ENST00000389562.2_In_Frame_Ins_p.2726_2726Q>HR	p.2763_2763Q>HR			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8398_8399	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2763			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	In_Frame_Ins	INS	ENST00000333577.4	37	c.8289_8290insCAG																																																																																					0.564	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		15	69						15	69	---	---	---	---
