#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
ST8SIA6	338596	broad.mit.edu	37	10	17369109	17369109	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-A7TI-01A-11D-A33T-08	TCGA-DU-A7TI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3959f0ac-f2a0-4761-9969-06eea3af0235	7babad52-46f6-4519-af6d-5c25e171c271	g.chr10:17369109T>G	ENST00000377602.4	-	6	613	c.539A>C	c.(538-540)gAc>gCc	p.D180A		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	180					carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycolipid biosynthetic process (GO:0009247)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked glycosylation (GO:0006493)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						ATAAGGGTAGTCCACAAAAGG	0.388																																						ENST00000377602.4																			0				endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						c.(538-540)gAc>gCc		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6							82.0	79.0	80.0					10																	17369109		2203	4300	6503	SO:0001583	missense	338596				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr10:17369109T>G		CCDS31158.1	10p13	2013-03-01	2005-02-07	2005-02-07	ENSG00000148488	ENSG00000148488		"""Sialyltransferases"""	23317	protein-coding gene	gene with protein product	"""ST8Sia VI"""	610139	"""sialyltransferase 8F (alpha-2, 8-sialyltransferase)"""	SIAT8F		11980897	Standard	XR_242697		Approved		uc001ipd.3	P61647	OTTHUMG00000017748	ENST00000377602.4:c.539A>C	10.37:g.17369109T>G	ENSP00000366827:p.Asp180Ala						p.D180A	NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN			6	613	-			180					B0YJ97|B9EH72|Q5VZH4	Missense_Mutation	SNP	ENST00000377602.4	37	c.539A>C	CCDS31158.1	.	.	.	.	.	.	.	.	.	.	T	2.075	-0.412102	0.04799	.	.	ENSG00000148488	ENST00000377610;ENST00000377602	T	0.28069	1.63	4.79	-2.01	0.07410	.	0.708426	0.14951	N	0.288886	T	0.14614	0.0353	N	0.26092	0.79	0.09310	N	1	B	0.24317	0.101	B	0.22152	0.038	T	0.18053	-1.0349	9	.	.	.	-5.8522	2.958	0.05883	0.1257:0.3875:0.1158:0.3709	.	180	P61647	SIA8F_HUMAN	A	10;180	ENSP00000366827:D180A	.	D	-	2	0	ST8SIA6	17409115	0.000000	0.05858	0.015000	0.15790	0.939000	0.58152	-0.147000	0.10234	-0.200000	0.10300	-0.290000	0.09829	GAC		0.388	ST8SIA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047036.1	NM_001004470		47	85	0	0	0	1	0	47	85				
ZWILCH	55055	broad.mit.edu	37	15	66813414	66813414	+	Silent	SNP	T	T	C			TCGA-DU-A7TI-01A-11D-A33T-08	TCGA-DU-A7TI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3959f0ac-f2a0-4761-9969-06eea3af0235	7babad52-46f6-4519-af6d-5c25e171c271	g.chr15:66813414T>C	ENST00000307897.5	+	7	998	c.618T>C	c.(616-618)taT>taC	p.Y206Y	ZWILCH_ENST00000446801.2_Silent_p.Y92Y|RPL4_ENST00000568588.1_Intron|ZWILCH_ENST00000535141.2_Silent_p.Y92Y|ZWILCH_ENST00000565627.1_Silent_p.Y92Y|RPL4_ENST00000564517.1_Intron	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein	206					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						TTGCCCAGTATGAGCTCTTTA	0.433																																						ENST00000307897.5																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						c.(616-618)taT>taC		zwilch kinetochore protein							270.0	270.0	270.0					15																	66813414		2201	4299	6500	SO:0001819	synonymous_variant	55055				cell division|mitotic cell cycle checkpoint|mitotic prometaphase	condensed chromosome kinetochore|cytosol	protein binding	g.chr15:66813414T>C	AK023175	CCDS10219.1, CCDS73746.1	15q22.31	2013-01-17	2012-12-13		ENSG00000174442	ENSG00000174442			25468	protein-coding gene	gene with protein product		609984	"""Zwilch, kinetochore associated, homolog (Drosophila)"""			12686595	Standard	NM_017975		Approved	FLJ10036, KNTC1AP	uc002aqb.3	Q9H900	OTTHUMG00000133194	ENST00000307897.5:c.618T>C	15.37:g.66813414T>C						ZWILCH_ENST00000446801.2_Silent_p.Y92Y|RPL4_ENST00000568588.1_Intron|RPL4_ENST00000564517.1_Intron|ZWILCH_ENST00000535141.2_Silent_p.Y92Y|ZWILCH_ENST00000565627.1_Silent_p.Y92Y	p.Y206Y	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN			7	998	+			206					B3KVB8|Q6N049|Q8N404|Q96SY7|Q9NWG7	Silent	SNP	ENST00000307897.5	37	c.618T>C	CCDS10219.1																																																																																				0.433	ZWILCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256904.4	NM_017975		51	477	0	0	0	1	0	51	477				
RASGEF1B	153020	broad.mit.edu	37	4	82369294	82369294	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A7TI-01A-11D-A33T-08	TCGA-DU-A7TI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3959f0ac-f2a0-4761-9969-06eea3af0235	7babad52-46f6-4519-af6d-5c25e171c271	g.chr4:82369294T>C	ENST00000264400.2	-	5	734	c.583A>G	c.(583-585)Ata>Gta	p.I195V	RASGEF1B_ENST00000335927.7_Missense_Mutation_p.I153V|RASGEF1B_ENST00000509081.1_Missense_Mutation_p.I194V	NM_152545.1	NP_689758.1	Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	195					positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	endosome (GO:0005768)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						TCCCTTTGTATAGACTGTGGC	0.502																																						ENST00000509081.1																			0				endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						c.(580-582)Ata>Gta		RasGEF domain family, member 1B							278.0	234.0	249.0					4																	82369294		2203	4300	6503	SO:0001583	missense	153020				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr4:82369294T>C	AK056257	CCDS34022.1, CCDS75151.1, CCDS75152.1	4q21.21	2013-09-24				ENSG00000138670			24881	protein-coding gene	gene with protein product		614532				12488504	Standard	XM_005262776		Approved	GPIG4, FLJ31695	uc003hmi.1	Q0VAM2		ENST00000264400.2:c.583A>G	4.37:g.82369294T>C	ENSP00000264400:p.Ile195Val					RASGEF1B_ENST00000335927.7_Missense_Mutation_p.I153V|RASGEF1B_ENST00000264400.2_Missense_Mutation_p.I195V	p.I194V			Q0VAM2	RGF1B_HUMAN			5	801	-			195					Q0VAM1|Q4W5L7|Q4W5M3|Q96MY8	Missense_Mutation	SNP	ENST00000264400.2	37	c.580A>G	CCDS34022.1	.	.	.	.	.	.	.	.	.	.	T	9.305	1.054067	0.19907	.	.	ENSG00000138670	ENST00000509081;ENST00000264400;ENST00000335927;ENST00000504863	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.31	5.31	0.75309	Ras guanine nucleotide exchange factor, domain (1);	0.045335	0.85682	D	0.000000	T	0.27832	0.0685	L	0.45228	1.405	0.80722	D	1	B;B;B	0.13594	0.008;0.008;0.002	B;B;B	0.15052	0.012;0.012;0.005	T	0.04191	-1.0970	10	0.25106	T	0.35	.	15.0996	0.72262	0.0:0.0:0.0:1.0	.	153;194;195	Q0VAM2-2;Q0VAM2-3;Q0VAM2	.;.;RGF1B_HUMAN	V	194;195;153;40	ENSP00000425393:I194V;ENSP00000264400:I195V;ENSP00000338437:I153V;ENSP00000426929:I40V	ENSP00000264400:I195V	I	-	1	0	RASGEF1B	82588318	1.000000	0.71417	0.996000	0.52242	0.965000	0.64279	1.926000	0.40084	2.243000	0.73865	0.482000	0.46254	ATA		0.502	RASGEF1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362830.1	NM_152545		42	168	0	0	0	1	0	42	168				
OTOF	9381	broad.mit.edu	37	2	26697436	26697436	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A7TI-01A-11D-A33T-08	TCGA-DU-A7TI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3959f0ac-f2a0-4761-9969-06eea3af0235	7babad52-46f6-4519-af6d-5c25e171c271	g.chr2:26697436A>G	ENST00000272371.2	-	26	3359	c.3233T>C	c.(3232-3234)aTc>aCc	p.I1078T	OTOF_ENST00000338581.6_Missense_Mutation_p.I331T|OTOF_ENST00000339598.3_Missense_Mutation_p.I331T|OTOF_ENST00000402415.3_Missense_Mutation_p.I388T|OTOF_ENST00000403946.3_Missense_Mutation_p.I1078T	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1078					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCACGGTAGATCTGGTAGTA	0.647																																					GBM(102;732 1451 20652 24062 31372)	ENST00000272371.2																			0				NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106						c.(3232-3234)aTc>aCc		otoferlin							69.0	58.0	61.0					2																	26697436		2202	4300	6502	SO:0001583	missense	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26697436A>G	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.3233T>C	2.37:g.26697436A>G	ENSP00000272371:p.Ile1078Thr					OTOF_ENST00000402415.3_Missense_Mutation_p.I388T|OTOF_ENST00000403946.3_Missense_Mutation_p.I1078T|OTOF_ENST00000339598.3_Missense_Mutation_p.I331T|OTOF_ENST00000338581.6_Missense_Mutation_p.I331T	p.I1078T	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			26	3359	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1078					B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	c.3233T>C	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	a	28.0	4.884858	0.91814	.	.	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23	5.5	5.5	0.81552	C2 calcium/lipid-binding domain, CaLB (1);	0.044267	0.85682	D	0.000000	T	0.78233	0.4251	M	0.81497	2.545	0.58432	D	0.999998	P;D;P;P	0.56287	0.9;0.975;0.95;0.949	B;P;P;P	0.54140	0.412;0.743;0.574;0.743	T	0.82216	-0.0567	10	0.87932	D	0	-32.1863	15.273	0.73720	1.0:0.0:0.0:0.0	.	1078;331;388;331	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	T	331;331;388;1078;1078	ENSP00000345137:I331T;ENSP00000344521:I331T;ENSP00000383906:I388T;ENSP00000272371:I1078T;ENSP00000385255:I1078T	ENSP00000272371:I1078T	I	-	2	0	OTOF	26550940	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.442000	0.80503	2.095000	0.63458	0.454000	0.30748	ATC		0.647	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			17	25	0	0	0	1	0	17	25				
RPS6KA2	6196	broad.mit.edu	37	6	166836821	166836821	+	Missense_Mutation	SNP	C	C	A	rs369744218		TCGA-DU-A7TI-01A-11D-A33T-08	TCGA-DU-A7TI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3959f0ac-f2a0-4761-9969-06eea3af0235	7babad52-46f6-4519-af6d-5c25e171c271	g.chr6:166836821C>A	ENST00000265678.4	-	17	1889	c.1666G>T	c.(1666-1668)Ggc>Tgc	p.G556C	RPS6KA2_ENST00000481261.2_Missense_Mutation_p.G467C|RPS6KA2_ENST00000509742.1_5'UTR|RPS6KA2_ENST00000405189.3_Missense_Mutation_p.G467C|RPS6KA2_ENST00000510118.1_Missense_Mutation_p.G581C|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.G564C	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	556	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)	p.G564S(1)|p.G556S(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		TTGGCAAAGCCGAAGTCGCAG	0.602																																						ENST00000510118.1																			2	Substitution - Missense(2)	p.G564S(1)|p.G556S(1)	prostate(2)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45						c.(1741-1743)Ggc>Tgc		ribosomal protein S6 kinase, 90kDa, polypeptide 2							61.0	58.0	59.0					6																	166836821		2203	4300	6503	SO:0001583	missense	6196				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr6:166836821C>A	L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"""ribosomal protein S6 kinase, 90kD, polypeptide 2"""			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000265678.4:c.1666G>T	6.37:g.166836821C>A	ENSP00000265678:p.Gly556Cys					RPS6KA2_ENST00000265678.4_Missense_Mutation_p.G556C|RPS6KA2_ENST00000509742.1_5'UTR|RPS6KA2_ENST00000481261.2_Missense_Mutation_p.G467C|RPS6KA2_ENST00000405189.3_Missense_Mutation_p.G467C|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.G564C	p.G581C			Q15349	KS6A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)	19	2081	-		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)	556			Protein kinase 2.		B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Missense_Mutation	SNP	ENST00000265678.4	37	c.1741G>T	CCDS5294.1	.	.	.	.	.	.	.	.	.	.	C	19.08	3.758397	0.69763	.	.	ENSG00000071242	ENST00000265678;ENST00000510118;ENST00000503859;ENST00000481261;ENST00000405189	D;D;D;D;D	0.85339	-1.97;-1.97;-1.97;-1.97;-1.97	3.87	3.87	0.44632	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.124283	0.53938	D	0.000056	D	0.95680	0.8595	H	0.99619	4.66	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.97546	1.0089	10	0.87932	D	0	.	14.9868	0.71353	0.0:1.0:0.0:0.0	.	581;564;556	F2Z2J1;Q15349-3;Q15349	.;.;KS6A2_HUMAN	C	556;581;564;467;467	ENSP00000265678:G556C;ENSP00000422435:G581C;ENSP00000427015:G564C;ENSP00000422484:G467C;ENSP00000386050:G467C	ENSP00000265678:G556C	G	-	1	0	RPS6KA2	166756811	1.000000	0.71417	0.957000	0.39632	0.516000	0.34256	7.118000	0.77137	2.005000	0.58758	0.462000	0.41574	GGC		0.602	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043075.3	NM_021135		20	31	1	0	1.2644e-06	1	1.28826e-06	20	31				
SSTR2	6752	broad.mit.edu	37	17	71165811	71165811	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A7TI-01A-11D-A33T-08	TCGA-DU-A7TI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3959f0ac-f2a0-4761-9969-06eea3af0235	7babad52-46f6-4519-af6d-5c25e171c271	g.chr17:71165811T>C	ENST00000357585.2	+	2	722	c.353T>C	c.(352-354)gTc>gCc	p.V118A	SSTR2_ENST00000315332.2_Missense_Mutation_p.V118A|RP11-143K11.5_ENST00000580671.1_RNA	NM_001050.2	NP_001041.1	P30874	SSR2_HUMAN	somatostatin receptor 2	118					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cell proliferation (GO:0008285)|peristalsis (GO:0030432)|regulation of muscle contraction (GO:0006937)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|somatostatin receptor activity (GO:0004994)			endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)		Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	TGCCGGGTGGTCATGACTGTG	0.572																																						ENST00000357585.2																			0				endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11						c.(352-354)gTc>gCc		somatostatin receptor 2							109.0	93.0	98.0					17																	71165811		2203	4300	6503	SO:0001583	missense	0				digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity	g.chr17:71165811T>C		CCDS11691.1	17q24	2012-08-08				ENSG00000180616		"""GPCR / Class A : Somatostatin receptors"""	11331	protein-coding gene	gene with protein product		182452				8449518	Standard	NM_001050		Approved		uc002jje.3	P30874		ENST00000357585.2:c.353T>C	17.37:g.71165811T>C	ENSP00000350198:p.Val118Ala					RP11-143K11.5_ENST00000580671.1_RNA|SSTR2_ENST00000315332.2_Missense_Mutation_p.V118A	p.V118A	NM_001050.2	NP_001041.1	P30874	SSR2_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		2	722	+			118					A8K3Y0|B2R9P7|Q4VBP0|Q96GE0|Q96TF2|Q9BWH1	Missense_Mutation	SNP	ENST00000357585.2	37	c.353T>C	CCDS11691.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.226665	0.79576	.	.	ENSG00000180616	ENST00000357585;ENST00000315332	T;T	0.19105	2.17;2.17	5.79	5.79	0.91817	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.47451	0.1446	M	0.86097	2.795	0.80722	D	1	P	0.52061	0.95	P	0.57283	0.817	T	0.54456	-0.8291	10	0.87932	D	0	.	15.7969	0.78420	0.0:0.0:0.0:1.0	.	118	P30874	SSR2_HUMAN	A	118	ENSP00000350198:V118A;ENSP00000326616:V118A	ENSP00000326616:V118A	V	+	2	0	SSTR2	68677406	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.036000	0.88901	2.207000	0.71202	0.533000	0.62120	GTC		0.572	SSTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441633.1			16	102	0	0	0	1	0	16	102				
IGHV1OR21-1	390530	broad.mit.edu	37	21	10862778	10862778	+	RNA	SNP	A	A	G			TCGA-DU-A7TI-01A-11D-A33T-08	TCGA-DU-A7TI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3959f0ac-f2a0-4761-9969-06eea3af0235	7babad52-46f6-4519-af6d-5c25e171c271	g.chr21:10862778A>G	ENST00000559480.1	+	0	74							A6NJS3	IV1U1_HUMAN	immunoglobulin heavy variable 1/OR21-1 (non-functional)							extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						CAGCTGGTGCAGTCTGGGGCT	0.567																																						ENST00000559480.1																			0				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26															189.0	182.0	184.0					21																	10862778		1940	4149	6089			0							g.chr21:10862778A>G			21p11.2	2014-05-06	2010-11-09		ENSG00000169861	ENSG00000277282		"""Immunoglobulins / IGH orphons"""	38040	other	immunoglobulin gene			"""immunoglobulin heavy variable 1/OR21-1 pseudogene"""				Standard	NG_011680		Approved	IGHV1/OR21-1		A6NJS3	OTTHUMG00000188295		21.37:g.10862778A>G														0	74	+									RNA	SNP	ENST00000559480.1	37																																																																																						0.567	IGHV1OR21-1-201	KNOWN	basic|appris_principal	IG_V_gene	IG_V_gene		NG_011680		23	246	0	0	0	1	0	23	246				
MYOCD	93649	broad.mit.edu	37	17	12626176	12626176	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A7TI-01A-11D-A33T-08	TCGA-DU-A7TI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3959f0ac-f2a0-4761-9969-06eea3af0235	7babad52-46f6-4519-af6d-5c25e171c271	g.chr17:12626176A>G	ENST00000343344.4	+	5	266	c.266A>G	c.(265-267)gAg>gGg	p.E89G	MYOCD_ENST00000425538.1_Missense_Mutation_p.E89G|AC005358.1_ENST00000609971.1_5'Flank|MYOCD_ENST00000395988.1_3'UTR			Q8IZQ8	MYCD_HUMAN	myocardin	89					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TCCACTGCAGAGAGGTCCATT	0.448																																						ENST00000425538.1																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70						c.(265-267)gAg>gGg		myocardin							126.0	136.0	133.0					17																	12626176		2203	4300	6503	SO:0001583	missense	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12626176A>G	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.266A>G	17.37:g.12626176A>G	ENSP00000341835:p.Glu89Gly					MYOCD_ENST00000395988.1_5'UTR|MYOCD_ENST00000343344.4_Missense_Mutation_p.E89G	p.E89G	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	5	466	+			89					Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	ENST00000343344.4	37	c.266A>G	CCDS11163.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.630229	0.87660	.	.	ENSG00000141052	ENST00000425538;ENST00000343344	T	0.54071	0.59	5.46	5.46	0.80206	.	0.113387	0.64402	D	0.000019	T	0.72898	0.3518	M	0.77103	2.36	0.80722	D	1	D;P	0.89917	1.0;0.897	D;P	0.91635	0.999;0.494	T	0.76793	-0.2828	10	0.87932	D	0	-38.6973	14.6651	0.68901	1.0:0.0:0.0:0.0	.	89;89	Q8IZQ8-3;Q8IZQ8	.;MYCD_HUMAN	G	89	ENSP00000341835:E89G	ENSP00000341835:E89G	E	+	2	0	MYOCD	12566901	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.791000	0.91849	2.291000	0.77112	0.533000	0.62120	GAG		0.448	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		15	182	0	0	0	1	0	15	182				
TEX11	56159	broad.mit.edu	37	X	69871334	69871334	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A7TI-01A-11D-A33T-08	TCGA-DU-A7TI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3959f0ac-f2a0-4761-9969-06eea3af0235	7babad52-46f6-4519-af6d-5c25e171c271	g.chrX:69871334G>C	ENST00000395889.2	-	18	1649	c.1494C>G	c.(1492-1494)ttC>ttG	p.F498L	TEX11_ENST00000374320.2_Missense_Mutation_p.F173L|TEX11_ENST00000374333.2_Missense_Mutation_p.F483L|TEX11_ENST00000344304.3_Missense_Mutation_p.F498L	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	498					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					CTGCAATCTTGAATATATAAA	0.348																																						ENST00000395889.2																			0				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48						c.(1492-1494)ttC>ttG		testis expressed 11							44.0	42.0	43.0					X																	69871334		2203	4300	6503	SO:0001583	missense	0						protein binding	g.chrX:69871334G>C	AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"""testis expressed sequence 11"""			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.1494C>G	X.37:g.69871334G>C	ENSP00000379226:p.Phe498Leu					TEX11_ENST00000374333.2_Missense_Mutation_p.F483L|TEX11_ENST00000374320.2_Missense_Mutation_p.F173L|TEX11_ENST00000344304.3_Missense_Mutation_p.F498L	p.F498L	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN			18	1649	-	Renal(35;0.156)		498					A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Missense_Mutation	SNP	ENST00000395889.2	37	c.1494C>G	CCDS35323.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.679641	0.47886	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000374320;ENST00000344304	T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75	2.98	2.98	0.34508	Tetratricopeptide-like helical (1);	0.166965	0.41712	N	0.000838	T	0.77384	0.4122	M	0.72894	2.215	0.30255	N	0.793743	D;D	0.60160	0.987;0.978	P;P	0.53266	0.722;0.531	T	0.75445	-0.3315	9	.	.	.	-5.9734	8.7125	0.34393	0.0:0.0:1.0:0.0	.	483;498	Q8IYF3-3;Q8IYF3	.;TEX11_HUMAN	L	483;498;173;498	ENSP00000363453:F483L;ENSP00000379226:F498L;ENSP00000363440:F173L;ENSP00000340995:F498L	.	F	-	3	2	TEX11	69788059	1.000000	0.71417	0.985000	0.45067	0.256000	0.26092	1.840000	0.39230	1.476000	0.48215	0.513000	0.50165	TTC		0.348	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1			9	20	0	0	0	1	0	9	20				
MEMO1	51072	broad.mit.edu	37	2	32108485	32108485	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-A7TI-01A-11D-A33T-08	TCGA-DU-A7TI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3959f0ac-f2a0-4761-9969-06eea3af0235	7babad52-46f6-4519-af6d-5c25e171c271	g.chr2:32108485A>C	ENST00000295065.5	-	7	936	c.627T>G	c.(625-627)atT>atG	p.I209M	MEMO1_ENST00000426310.2_Missense_Mutation_p.I186M|MEMO1_ENST00000490459.1_Intron|MEMO1_ENST00000379383.3_Missense_Mutation_p.I212M|MEMO1_ENST00000404530.1_Missense_Mutation_p.I209M|DPY30_ENST00000446765.1_5'UTR	NM_015955.2	NP_057039.1	Q9Y316	MEMO1_HUMAN	mediator of cell motility 1	209					regulation of microtubule-based process (GO:0032886)	cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	17	Acute lymphoblastic leukemia(172;0.155)					TGGATCTATAAATCTCCCCCT	0.313																																						ENST00000295065.4																			0				NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	17						c.(625-627)atT>atG		mediator of cell motility 1							165.0	189.0	181.0					2																	32108485		2203	4299	6502	SO:0001583	missense	51072				regulation of microtubule-based process	cytosol|nucleus		g.chr2:32108485A>C	AF132961	CCDS1776.1, CCDS46255.1	2p22-p21	2010-05-24	2007-02-12	2007-02-12	ENSG00000162959	ENSG00000162959			14014	protein-coding gene	gene with protein product		611786	"""chromosome 2 open reading frame 4"""	C2orf4		15156151	Standard	NM_015955		Approved	CGI-27, MEMO	uc002rnx.3	Q9Y316	OTTHUMG00000128453	ENST00000295065.5:c.627T>G	2.37:g.32108485A>C	ENSP00000295065:p.Ile209Met					DPY30_ENST00000446765.1_5'UTR|MEMO1_ENST00000426310.2_Missense_Mutation_p.I186M|MEMO1_ENST00000404530.1_Missense_Mutation_p.I209M|MEMO1_ENST00000379383.3_Missense_Mutation_p.I212M|MEMO1_ENST00000490459.1_Intron	p.I209M	NM_015955.2	NP_057039.1	Q9Y316	MEMO1_HUMAN			7	936	-	Acute lymphoblastic leukemia(172;0.155)		209					B4DLS0|D6W575|Q5R2V8|Q5R2V9|Q6NSL5	Missense_Mutation	SNP	ENST00000295065.5	37	c.627T>G	CCDS1776.1	.	.	.	.	.	.	.	.	.	.	A	16.08	3.021943	0.54576	.	.	ENSG00000162959	ENST00000295065;ENST00000379383;ENST00000404530;ENST00000426310	.	.	.	5.61	4.39	0.52855	.	0.000000	0.85682	D	0.000000	T	0.79981	0.4540	M	0.93720	3.45	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.71414	0.966;0.973	T	0.79235	-0.1887	9	0.87932	D	0	-8.7897	4.014	0.09636	0.6584:0.0:0.1523:0.1894	.	186;209	Q9Y316-2;Q9Y316	.;MEMO1_HUMAN	M	209;212;209;186	.	ENSP00000295065:I209M	I	-	3	3	MEMO1	31961989	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.379000	0.52440	0.837000	0.34925	0.477000	0.44152	ATT		0.313	MEMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250251.2	NM_015955		23	335	0	0	0	1	0	23	335				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-A7TI-01A-11D-A33T-08	TCGA-DU-A7TI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3959f0ac-f2a0-4761-9969-06eea3af0235	7babad52-46f6-4519-af6d-5c25e171c271	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			36	70	0	0	0	1	0	36	70				
OR52E8	390079	broad.mit.edu	37	11	5878093	5878093	+	Silent	SNP	T	T	A			TCGA-DU-A7TI-01A-11D-A33T-08	TCGA-DU-A7TI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3959f0ac-f2a0-4761-9969-06eea3af0235	7babad52-46f6-4519-af6d-5c25e171c271	g.chr11:5878093T>A	ENST00000537935.1	-	1	871	c.840A>T	c.(838-840)atA>atT	p.I280I	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	280						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTTGGCTAATATAATATGTA	0.393																																						ENST00000537935.1																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20						c.(838-840)atA>atT		olfactory receptor, family 52, subfamily E, member 8							97.0	114.0	109.0					11																	5878093		2144	4296	6440	SO:0001819	synonymous_variant	390079				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5878093T>A	BK004301	CCDS31400.1	11p15.4	2012-08-09	2003-12-15		ENSG00000183269	ENSG00000183269		"""GPCR / Class A : Olfactory receptors"""	15217	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily E, member 8 pseudogene"""				Standard	NM_001005168		Approved		uc010qzr.2	Q6IFG1	OTTHUMG00000168803	ENST00000537935.1:c.840A>T	11.37:g.5878093T>A						TRIM5_ENST00000380027.1_Intron	p.I280I	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	871	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)	280					B9EH38	Silent	SNP	ENST00000537935.1	37	c.840A>T	CCDS31400.1																																																																																				0.393	OR52E8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401145.1	NM_001005168		19	223	0	0	0	1	0	19	223				
CDK3	1018	broad.mit.edu	37	17	73997474	73997474	+	De_novo_Start_OutOfFrame	SNP	G	G	A	rs2069528	byFrequency	TCGA-DU-A7TI-01A-11D-A33T-08	TCGA-DU-A7TI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3959f0ac-f2a0-4761-9969-06eea3af0235	7babad52-46f6-4519-af6d-5c25e171c271	g.chr17:73997474G>A	ENST00000425876.2	+	0	56				CDK3_ENST00000448471.1_Intron|TEN1-CDK3_ENST00000567351.1_RNA			Q00526	CDK3_HUMAN	cyclin-dependent kinase 3						cell proliferation (GO:0008283)|G0 to G1 transition (GO:0045023)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			central_nervous_system(1)	1						CAAATTGCCCGGTGCCTTCTG	0.622													A|||	4217	0.842053	0.9584	0.7622	5008	,	,		15279	0.8829		0.7237	False		,,,				2504	0.8211					ENST00000425876.2																			0				central_nervous_system(1)	1								cyclin-dependent kinase 3		A		4073,333	174.4+/-204.0	1885,303,15	75.0	63.0	67.0			-5.6	0.0	17	dbSNP_96	67	6372,2226	376.3+/-338.1	2354,1664,281	no	intron	CDK3	NM_001258.2		4239,1967,296	AA,AG,GG		25.8897,7.5579,19.6786			73997474	10445,2559	2203	4299	6502			1018				cell division|cell proliferation|mitosis		ATP binding|cyclin-dependent protein kinase activity	g.chr17:73997474G>A	X66357	CCDS11736.1	17q25.1	2012-09-20			ENSG00000250506	ENSG00000250506		"""Cyclin-dependent kinases"""	1772	protein-coding gene	gene with protein product		123828				1639063	Standard	NM_001258		Approved		uc010dgt.3	Q00526	OTTHUMG00000154861	ENST00000425876.2:c.-33G>A	17.37:g.73997474G>A						CDK3_ENST00000448471.1_Intron|TEN1-CDK3_ENST00000567351.1_RNA				Q00526	CDK3_HUMAN			0	56	+									Translation_Start_Site	SNP	ENST00000425876.2	37		CCDS11736.1																																																																																				0.622	CDK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337389.2	NM_001258		5	26	0	0	0	1	0	5	26				
NFE2	4778	broad.mit.edu	37	12	54687025	54687025	+	Silent	SNP	G	G	A			TCGA-DU-A7TI-01A-11D-A33T-08	TCGA-DU-A7TI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3959f0ac-f2a0-4761-9969-06eea3af0235	7babad52-46f6-4519-af6d-5c25e171c271	g.chr12:54687025G>A	ENST00000540264.2	-	2	764	c.255C>T	c.(253-255)ctC>ctT	p.L85L	NFE2_ENST00000312156.4_Silent_p.L85L|NFE2_ENST00000435572.2_Silent_p.L85L|RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000553070.1_Silent_p.L85L			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	85	Transactivation domain.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|hemostasis (GO:0007599)|labyrinthine layer blood vessel development (GO:0060716)|multicellular organismal development (GO:0007275)|negative regulation of bone mineralization (GO:0030502)|negative regulation of syncytium formation by plasma membrane fusion (GO:0034242)|nucleosome disassembly (GO:0006337)|positive regulation of peptidyl-lysine acetylation (GO:2000758)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						TGGATGCTGGGAGCTCATAAG	0.577																																						ENST00000540264.2																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						c.(253-255)ctC>ctT		nuclear factor, erythroid 2							171.0	179.0	176.0					12																	54687025		2203	4300	6503	SO:0001819	synonymous_variant	4778				blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding	g.chr12:54687025G>A	BC005044	CCDS8876.1	12q13	2013-08-23	2013-08-23			ENSG00000123405		"""basic leucine zipper proteins"""	7780	protein-coding gene	gene with protein product		601490	"""nuclear factor (erythroid-derived 2), 45kD"", ""nuclear factor (erythroid-derived 2), 45kDa"""			8355703	Standard	NM_001136023		Approved	NF-E2	uc001sfr.5	Q16621		ENST00000540264.2:c.255C>T	12.37:g.54687025G>A						NFE2_ENST00000312156.4_Silent_p.L85L|NFE2_ENST00000435572.2_Silent_p.L85L|RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000553070.1_Silent_p.L85L	p.L85L			Q16621	NFE2_HUMAN			2	764	-			85			Transactivation domain.		Q07720|Q6ICV9	Silent	SNP	ENST00000540264.2	37	c.255C>T	CCDS8876.1																																																																																				0.577	NFE2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405747.1	NM_006163		15	90	0	0	0	1	0	15	90				
SYVN1	84447	broad.mit.edu	37	11	64900459	64900459	+	Silent	SNP	A	A	C			TCGA-DU-A7TI-01A-11D-A33T-08	TCGA-DU-A7TI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3959f0ac-f2a0-4761-9969-06eea3af0235	7babad52-46f6-4519-af6d-5c25e171c271	g.chr11:64900459A>C	ENST00000377190.3	-	4	406	c.312T>G	c.(310-312)gtT>gtG	p.V104V	SYVN1_ENST00000526121.1_5'Flank|SYVN1_ENST00000294256.8_Silent_p.V104V|SYVN1_ENST00000307289.6_Silent_p.V104V|SYVN1_ENST00000526060.1_Silent_p.V104V	NM_172230.2	NP_757385.1	Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	104					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|in utero embryonic development (GO:0001701)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						TGAAGAGTGCAACAAAGCGGG	0.557																																						ENST00000526060.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						c.(310-312)gtT>gtG		synovial apoptosis inhibitor 1, synoviolin							57.0	57.0	57.0					11																	64900459		2201	4297	6498	SO:0001819	synonymous_variant	84447				ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding	g.chr11:64900459A>C	AB085847	CCDS8097.1, CCDS31605.1	11q13	2013-01-09			ENSG00000162298	ENSG00000162298		"""RING-type (C3HC4) zinc fingers"""	20738	protein-coding gene	gene with protein product	"""HMG-coA reductase degradation 1 homolog (S. cerevisiae)"""	608046				12975321	Standard	NM_032431		Approved	HRD1, DER3	uc001odb.3	Q86TM6		ENST00000377190.3:c.312T>G	11.37:g.64900459A>C						SYVN1_ENST00000307289.6_Silent_p.V104V|SYVN1_ENST00000377190.3_Silent_p.V104V|SYVN1_ENST00000294256.8_Silent_p.V104V	p.V104V			Q86TM6	SYVN1_HUMAN			4	504	-			104					Q8N3K3|Q8N6E8|Q96JL5|Q96PK3	Silent	SNP	ENST00000377190.3	37	c.312T>G	CCDS31605.1																																																																																				0.557	SYVN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385274.1	NM_032431		22	38	0	0	0	1	0	22	38				
CIITA	4261	broad.mit.edu	37	16	10989595	10989595	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A7TI-01A-11D-A33T-08	TCGA-DU-A7TI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3959f0ac-f2a0-4761-9969-06eea3af0235	7babad52-46f6-4519-af6d-5c25e171c271	g.chr16:10989595A>G	ENST00000324288.8	+	3	402	c.269A>G	c.(268-270)gAg>gGg	p.E90G	CIITA_ENST00000381835.5_Missense_Mutation_p.E90G|CIITA_ENST00000537380.1_3'UTR	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	90	Asp/Glu-rich (acidic).				aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						GGTGATGAAGAGACCAGGGAG	0.512			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """																																	ENST00000324288.8				Dom	yes		16	16p13	4261	T	"""class II, major histocompatibility complex, transactivator"""			L	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""		"""PMBL, Hodgkin Lymphona, """		0				central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						c.(268-270)gAg>gGg		class II, major histocompatibility complex, transactivator							104.0	94.0	97.0					16																	10989595		2197	4300	6497	SO:0001583	missense	4261				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding	g.chr16:10989595A>G	U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"""Nucleotide-binding domain and leucine rich repeat containing"""	7067	protein-coding gene	gene with protein product	"""NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"""	600005	"""MHC class II transactivator"""	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.269A>G	16.37:g.10989595A>G	ENSP00000316328:p.Glu90Gly					CIITA_ENST00000381835.5_Missense_Mutation_p.E90G|CIITA_ENST00000537380.1_3'UTR	p.E90G	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN			3	402	+			90			Asp/Glu-rich (acidic).		A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Missense_Mutation	SNP	ENST00000324288.8	37	c.269A>G	CCDS10544.1	.	.	.	.	.	.	.	.	.	.	A	13.14	2.147037	0.37923	.	.	ENSG00000179583	ENST00000324288;ENST00000381835;ENST00000388910;ENST00000537380	T;T	0.74737	-0.87;1.46	4.48	3.15	0.36227	.	0.591113	0.14487	N	0.316613	T	0.74390	0.3710	L	0.32530	0.975	0.23524	N	0.997497	D;B;B;B;B;B	0.89917	1.0;0.012;0.007;0.007;0.076;0.263	D;B;B;B;B;B	0.91635	0.999;0.008;0.013;0.013;0.084;0.07	T	0.60586	-0.7234	10	0.31617	T	0.26	.	4.4998	0.11858	0.8134:0.0:0.1866:0.0	.	90;90;90;90;90;90	F5H2J4;E9PFE0;A0N0N9;P33076;F2Z2G8;Q96KL4	.;.;.;C2TA_HUMAN;.;.	G	90	ENSP00000316328:E90G;ENSP00000371257:E90G	ENSP00000316328:E90G	E	+	2	0	CIITA	10897096	1.000000	0.71417	1.000000	0.80357	0.607000	0.37147	1.683000	0.37638	1.801000	0.52704	0.533000	0.62120	GAG		0.512	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246		8	67	0	0	0	1	0	8	67				
PCDHGB3	56102	broad.mit.edu	37	5	140752018	140752018	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7TI-01A-11D-A33T-08	TCGA-DU-A7TI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3959f0ac-f2a0-4761-9969-06eea3af0235	7babad52-46f6-4519-af6d-5c25e171c271	g.chr5:140752018C>T	ENST00000576222.1	+	1	2188	c.2057C>T	c.(2056-2058)gCg>gTg	p.A686V	PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_5'Flank|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	686					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCCTCAGGCGGAGCTACAG	0.572																																						ENST00000576222.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(2056-2058)gCg>gTg									74.0	84.0	81.0					5																	140752018		2066	4201	6267	SO:0001583	missense	0							g.chr5:140752018C>T	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.2057C>T	5.37:g.140752018C>T	ENSP00000461862:p.Ala686Val					PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron	p.A686V	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2188	+								A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	c.2057C>T	CCDS58980.1																																																																																				0.572	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		28	114	0	0	0	1	0	28	114				
NBPF3	84224	broad.mit.edu	37	1	21771683	21771683	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TI-01A-11D-A33T-08	TCGA-DU-A7TI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3959f0ac-f2a0-4761-9969-06eea3af0235	7babad52-46f6-4519-af6d-5c25e171c271	g.chr1:21771683G>A	ENST00000318249.5	+	2	454	c.104G>A	c.(103-105)gGc>gAc	p.G35D	NBPF3_ENST00000478653.2_3'UTR|NBPF3_ENST00000454000.2_Missense_Mutation_p.G35D|NBPF3_ENST00000342104.5_Missense_Mutation_p.G35D|NBPF3_ENST00000318220.6_5'UTR	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	35						cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CATGGTGTGGGCCGACATCAA	0.542																																						ENST00000318249.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20						c.(103-105)gGc>gAc		neuroblastoma breakpoint family, member 3							41.0	42.0	42.0					1																	21771683		2203	4300	6503	SO:0001583	missense	84224					cytoplasm		g.chr1:21771683G>A	BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"""neuroblastoma breakpoint family"""	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.104G>A	1.37:g.21771683G>A	ENSP00000316782:p.Gly35Asp					NBPF3_ENST00000318220.6_5'UTR|NBPF3_ENST00000478653.2_3'UTR|NBPF3_ENST00000454000.2_Missense_Mutation_p.G35D|NBPF3_ENST00000342104.5_Missense_Mutation_p.G35D	p.G35D	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	2	454	+		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	35					A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Missense_Mutation	SNP	ENST00000318249.5	37	c.104G>A	CCDS216.1	.	.	.	.	.	.	.	.	.	.	.	9.725	1.160662	0.21538	.	.	ENSG00000142794	ENST00000454000;ENST00000318249;ENST00000342104	T;T;T	0.08008	3.14;4.22;4.2	0.52	0.52	0.17040	.	.	.	.	.	T	0.03390	0.0098	N	0.08118	0	0.09310	N	1	B;P;P	0.39717	0.034;0.684;0.588	B;B;B	0.29716	0.001;0.106;0.027	T	0.40232	-0.9574	8	0.87932	D	0	.	.	.	.	.	35;35;35	B4DSP2;Q9H094-3;Q9H094	.;.;NBPF3_HUMAN	D	35	ENSP00000415711:G35D;ENSP00000316782:G35D;ENSP00000340336:G35D	ENSP00000316782:G35D	G	+	2	0	NBPF3	21644270	0.005000	0.15991	0.089000	0.20774	0.284000	0.27059	0.628000	0.24522	0.591000	0.29711	0.271000	0.19318	GGC		0.542	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264		10	36	0	0	0	1	0	10	36				
ACSM5	54988	broad.mit.edu	37	16	20451157	20451157	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DU-A7TI-01A-11D-A33T-08	TCGA-DU-A7TI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3959f0ac-f2a0-4761-9969-06eea3af0235	7babad52-46f6-4519-af6d-5c25e171c271	g.chr16:20451157C>G	ENST00000331849.4	+	13	1719	c.1572C>G	c.(1570-1572)taC>taG	p.Y524*	CTD-2194A8.2_ENST00000575772.1_RNA|CTD-2194A8.2_ENST00000574654.1_RNA	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	524					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						CTCCAGCCTACTCCTCTCATG	0.458																																						ENST00000331849.4																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						c.(1570-1572)taC>taG		acyl-CoA synthetase medium-chain family member 5							109.0	101.0	104.0					16																	20451157		2203	4299	6502	SO:0001587	stop_gained	54988				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20451157C>G		CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"""Acyl-CoA synthetase family"""	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.1572C>G	16.37:g.20451157C>G	ENSP00000327916:p.Tyr524*						p.Y524*	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN			13	1719	+			524					Q96AV1|Q96CX8|Q9NWV3	Nonsense_Mutation	SNP	ENST00000331849.4	37	c.1572C>G	CCDS10585.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.229092	0.79688	.	.	ENSG00000183549	ENST00000331849	.	.	.	5.01	1.72	0.24424	.	0.118041	0.37483	N	0.002063	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-15.386	7.636	0.28267	0.0:0.4437:0.0:0.5563	.	.	.	.	X	524	.	ENSP00000327916:Y524X	Y	+	3	2	ACSM5	20358658	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	-0.563000	0.05943	0.133000	0.18654	0.655000	0.94253	TAC		0.458	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		14	132	0	0	0	1	0	14	132				
CLSTN3	9746	broad.mit.edu	37	12	7293877	7293877	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TI-01A-11D-A33T-08	TCGA-DU-A7TI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3959f0ac-f2a0-4761-9969-06eea3af0235	7babad52-46f6-4519-af6d-5c25e171c271	g.chr12:7293877G>A	ENST00000266546.6	+	9	1813	c.1363G>A	c.(1363-1365)Gag>Aag	p.E455K	CLSTN3_ENST00000537408.1_Missense_Mutation_p.E467K	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	455					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						TCTGAACCTCGAGTTCCCCAC	0.567											OREG0021650	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000537408.1																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						c.(1399-1401)Gag>Aag		calsyntenin 3							352.0	258.0	290.0					12																	7293877		2203	4300	6503	SO:0001583	missense	9746				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr12:7293877G>A	AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"""Cadherins / Cadherin-related"""	18371	protein-coding gene	gene with protein product	"""cadherin-related family member 14"""	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.1363G>A	12.37:g.7293877G>A	ENSP00000266546:p.Glu455Lys		OREG0021650	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	640	CLSTN3_ENST00000266546.6_Missense_Mutation_p.E455K	p.E467K			Q9BQT9	CSTN3_HUMAN			8	1937	+			455					D3DUT6|O94831|Q2T9J5|Q5UE57	Missense_Mutation	SNP	ENST00000266546.6	37	c.1399G>A	CCDS8575.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.013374	0.93346	.	.	ENSG00000139182	ENST00000266546;ENST00000537408	T;T	0.73258	-0.73;-0.73	5.38	5.38	0.77491	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.052957	0.85682	D	0.000000	T	0.80803	0.4693	L	0.55481	1.735	0.58432	D	0.999998	P;D	0.61697	0.917;0.99	B;D	0.63381	0.387;0.914	T	0.81435	-0.0934	10	0.56958	D	0.05	-32.3553	19.1361	0.93429	0.0:0.0:1.0:0.0	.	467;455	Q5UE57;Q9BQT9	.;CSTN3_HUMAN	K	455;467	ENSP00000266546:E455K;ENSP00000440679:E467K	ENSP00000266546:E455K	E	+	1	0	CLSTN3	7185144	1.000000	0.71417	0.958000	0.39756	0.978000	0.69477	6.946000	0.75953	2.512000	0.84698	0.455000	0.32223	GAG		0.567	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2	NM_014718		28	258	0	0	0	1	0	28	258				
IGKV1-33	28933	broad.mit.edu	37	2	89568183	89568183	+	RNA	SNP	A	A	G			TCGA-DU-A7TI-01A-11D-A33T-08	TCGA-DU-A7TI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3959f0ac-f2a0-4761-9969-06eea3af0235	7babad52-46f6-4519-af6d-5c25e171c271	g.chr2:89568183A>G	ENST00000473726.1	-	0	80									immunoglobulin kappa variable 1-33																		CTTACCTGAGAGCCAGAGCAG	0.522																																						ENST00000473726.1																			0																				97.0	76.0	83.0					2																	89568183		1910	4114	6024			0							g.chr2:89568183A>G	M64856		2p11.2	2012-02-10			ENSG00000242076	ENSG00000242076		"""Immunoglobulins / IGK locus"""	5737	other	immunoglobulin gene							Standard	NG_000834		Approved	IGKV133, O18			OTTHUMG00000151682		2.37:g.89568183A>G														0	80	-									RNA	SNP	ENST00000473726.1	37																																																																																						0.522	IGKV1-33-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323480.1	NG_000834		11	47	0	0	0	1	0	11	47				
DAPK1	1612	broad.mit.edu	37	9	90322027	90322027	+	Silent	SNP	C	C	T	rs55790757	byFrequency	TCGA-DU-A7TI-01A-11D-A33T-08	TCGA-DU-A7TI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3959f0ac-f2a0-4761-9969-06eea3af0235	7babad52-46f6-4519-af6d-5c25e171c271	g.chr9:90322027C>T	ENST00000408954.3	+	26	4376	c.4041C>T	c.(4039-4041)aaC>aaT	p.N1347N	DAPK1_ENST00000472284.1_Silent_p.N1347N|DAPK1_ENST00000358077.5_Silent_p.N1347N|DAPK1_ENST00000491893.1_Silent_p.N1281N|DAPK1_ENST00000469640.2_Silent_p.N1372N	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	1347	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						ACACCAGTAACGGGGCTCCCA	0.632									Chronic Lymphocytic Leukemia, Familial Clustering of				C|||	3	0.000599042	0.0	0.0	5008	,	,		17178	0.0		0.003	False		,,,				2504	0.0					ENST00000469640.2																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						c.(4114-4116)aaC>aaT		death-associated protein kinase 1		C		9,3967		0,9,1979	61.0	68.0	66.0		4041	-8.6	0.0	9	dbSNP_129	66	29,8269		0,29,4120	no	coding-synonymous	DAPK1	NM_004938.2		0,38,6099	TT,TC,CC		0.3495,0.2264,0.3096		1347/1431	90322027	38,12236	1988	4149	6137	SO:0001819	synonymous_variant	1612	Chronic Lymphocytic Leukemia, Familial Clustering of	Familial Cancer Database	Familial CLL	apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	g.chr9:90322027C>T	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.4041C>T	9.37:g.90322027C>T						DAPK1_ENST00000491893.1_Silent_p.N1281N|DAPK1_ENST00000408954.3_Silent_p.N1347N|DAPK1_ENST00000358077.5_Silent_p.N1347N|DAPK1_ENST00000472284.1_Silent_p.N1347N	p.N1372N			P53355	DAPK1_HUMAN			27	4491	+			1347			Death.		B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Silent	SNP	ENST00000408954.3	37	c.4116C>T	CCDS43842.1																																																																																				0.632	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938		7	85	0	0	0	1	0	7	85				
NEBL	10529	broad.mit.edu	37	10	21074807	21074807	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7TI-01A-11D-A33T-08	TCGA-DU-A7TI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3959f0ac-f2a0-4761-9969-06eea3af0235	7babad52-46f6-4519-af6d-5c25e171c271	g.chr10:21074807C>T	ENST00000377122.4	-	28	3310	c.2914G>A	c.(2914-2916)Gag>Aag	p.E972K	NEBL_ENST00000417816.2_Missense_Mutation_p.E228K|NEBL_ENST00000377159.4_Missense_Mutation_p.E194K	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	972	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AAGGAGACCTCGTCTTCATCC	0.502																																						ENST00000377122.4																			0				NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(2914-2916)Gag>Aag		nebulette							139.0	116.0	124.0					10																	21074807		2203	4300	6503	SO:0001583	missense	10529				regulation of actin filament length		actin binding|structural constituent of muscle	g.chr10:21074807C>T	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.2914G>A	10.37:g.21074807C>T	ENSP00000366326:p.Glu972Lys					NEBL_ENST00000377159.4_Missense_Mutation_p.E194K|NEBL_ENST00000417816.2_Missense_Mutation_p.E228K	p.E972K	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN			28	3310	-			972			SH3.		B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Missense_Mutation	SNP	ENST00000377122.4	37	c.2914G>A	CCDS7134.1	.	.	.	.	.	.	.	.	.	.	C	32	5.171933	0.94807	.	.	ENSG00000078114	ENST00000377122;ENST00000417816;ENST00000377159	T;T;T	0.63255	-0.03;-0.03;-0.03	5.74	5.74	0.90152	Src homology-3 domain (5);	0.000000	0.64402	D	0.000001	D	0.87974	0.6313	H	0.97896	4.1	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.988;1.0	D	0.91861	0.5499	10	0.87932	D	0	.	19.9306	0.97117	0.0:1.0:0.0:0.0	.	228;972	Q70I54;O76041	.;NEBL_HUMAN	K	972;228;194	ENSP00000366326:E972K;ENSP00000393896:E228K;ENSP00000366364:E194K	ENSP00000366326:E972K	E	-	1	0	NEBL	21114813	1.000000	0.71417	0.998000	0.56505	0.629000	0.37895	7.818000	0.86416	2.732000	0.93576	0.591000	0.81541	GAG		0.502	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393		16	79	0	0	0	1	0	16	79				
PPEF1	5475	broad.mit.edu	37	X	18822066	18822066	+	Silent	SNP	G	G	A			TCGA-DU-A7TI-01A-11D-A33T-08	TCGA-DU-A7TI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3959f0ac-f2a0-4761-9969-06eea3af0235	7babad52-46f6-4519-af6d-5c25e171c271	g.chrX:18822066G>A	ENST00000361511.4	+	14	1616	c.1122G>A	c.(1120-1122)acG>acA	p.T374T	PPEF1_ENST00000544635.1_Silent_p.T309T|PPEF1_ENST00000543630.1_Intron|PPEF1_ENST00000359763.6_Silent_p.T321T|PPEF1_ENST00000349874.5_Intron	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	374	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|phototransduction, visible light (GO:0007603)|protein dephosphorylation (GO:0006470)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					TTCCAAATACGTGCCGAGGAG	0.423																																						ENST00000361511.4																			0				breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43						c.(1120-1122)acG>acA		protein phosphatase, EF-hand calcium binding domain 1							143.0	129.0	134.0					X																	18822066		2203	4300	6503	SO:0001819	synonymous_variant	5475				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	g.chrX:18822066G>A	BC036026	CCDS14188.1, CCDS43920.1	Xp22	2013-01-10			ENSG00000086717	ENSG00000086717		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9243	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, alpha isozyme"""	300109		PPEF		9215685, 9326663	Standard	NM_152224		Approved	PPP7CA	uc004cyq.3	O14829	OTTHUMG00000021219	ENST00000361511.4:c.1122G>A	X.37:g.18822066G>A						PPEF1_ENST00000544635.1_Silent_p.T309T|PPEF1_ENST00000543630.1_Intron|PPEF1_ENST00000359763.6_Silent_p.T321T|PPEF1_ENST00000349874.5_Intron	p.T374T	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN			14	1616	+	Hepatocellular(33;0.183)		374			Catalytic.		A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0	Silent	SNP	ENST00000361511.4	37	c.1122G>A	CCDS14188.1																																																																																				0.423	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055953.3	NM_006240		57	25	0	0	0	1	0	57	25				
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-DU-A7TI-01A-11D-A33T-08	TCGA-DU-A7TI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3959f0ac-f2a0-4761-9969-06eea3af0235	7babad52-46f6-4519-af6d-5c25e171c271	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000420246.2_Missense_Mutation_p.R273C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65.0	56.0	59.0					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577121G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C	p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		17	12	0	0	0	1	0	17	12				
CHRNA9	55584	broad.mit.edu	37	4	40356152	40356154	+	In_Frame_Del	DEL	ATG	ATG	-			TCGA-DU-A7TI-01A-11D-A33T-08	TCGA-DU-A7TI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3959f0ac-f2a0-4761-9969-06eea3af0235	7babad52-46f6-4519-af6d-5c25e171c271	g.chr4:40356152_40356154delATG	ENST00000310169.2	+	5	1194_1196	c.1055_1057delATG	c.(1054-1059)tatgat>tat	p.D353del		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	353					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Galantamine(DB00674)|Nicotine(DB00184)	TTGTTTGTCTATGATGTGGGTGA	0.552																																					Esophageal Squamous(115;1297 1602 22235 25158 43327)	ENST00000310169.2																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33						c.(1054-1059)tat>t		cholinergic receptor, nicotinic, alpha 9 (neuronal)	Nicotine(DB00184)																																			SO:0001651	inframe_deletion	55584				elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity	g.chr4:40356152_40356154delATG	AF227732	CCDS3459.1	4p14	2012-02-11	2012-02-07		ENSG00000174343	ENSG00000174343		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	14079	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 9 (neuronal)"""	605116	"""cholinergic receptor, nicotinic, alpha polypeptide 9"""				Standard	NM_017581		Approved	NACHRA9	uc003gva.2	Q9UGM1	OTTHUMG00000099375	ENST00000310169.2:c.1055_1057delATG	4.37:g.40356155_40356157delATG	ENSP00000312663:p.Asp353del						p.YD352del	NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN			5	1194_1196	+			352					Q14CY7|Q4W5A2|Q9NYV2	In_Frame_Del	DEL	ENST00000310169.2	37	c.1055_1057delATG	CCDS3459.1																																																																																				0.552	CHRNA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216822.1			8	276						8	276	---	---	---	---
TRGC1	6966	broad.mit.edu	37	7	38301855	38301856	+	RNA	DEL	GT	GT	-	rs531015144|rs539372318	byFrequency	TCGA-DU-A7TI-01A-11D-A33T-08	TCGA-DU-A7TI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3959f0ac-f2a0-4761-9969-06eea3af0235	7babad52-46f6-4519-af6d-5c25e171c271	g.chr7:38301855_38301856delGT	ENST00000443402.2	-	0	330					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1	P0CF51	TRGC1_HUMAN	T cell receptor gamma constant 1							integral component of membrane (GO:0016021)											TCAATTGTTCGTGTGTGTGTGT	0.356														5	0.000998403	0.0023	0.0	5008	,	,		19637	0.002		0.0	False		,,,				2504	0.0					ENST00000443402.2																			0																,	19,1,3534		0,0,19,0,1,1757					,	-0.1	0.0			199	9,6,7813		1,0,7,0,6,3900	no	intron,intron	TARP	NM_001003806.1,NM_001003799.1	,	1,0,26,0,7,5657	A1A1,A1A2,A1R,A2A2,A2R,RR		0.1916,0.5627,0.3075	,	,		28,7,11347						0							g.chr7:38301855_38301856delGT	M14996		7p14	2012-02-07			ENSG00000211689	ENSG00000211689		"""T cell receptors / TRG locus"""	12275	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C1"""	186970		TCRGC1		2879283	Standard	NG_001336		Approved	C1		P0CF51	OTTHUMG00000155219		7.37:g.38301865_38301866delGT								NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1					0	330	-									RNA	DEL	ENST00000443402.2	37																																																																																						0.356	TRGC1-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338825.3	NG_001336		7	161						7	161	---	---	---	---
DLX6	1750	broad.mit.edu	37	7	96635420	96635421	+	In_Frame_Ins	INS	-	-	GCC	rs527616759|rs570498188|rs559903070|rs374304439	byFrequency	TCGA-DU-A7TI-01A-11D-A33T-08	TCGA-DU-A7TI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3959f0ac-f2a0-4761-9969-06eea3af0235	7babad52-46f6-4519-af6d-5c25e171c271	g.chr7:96635420_96635421insGCC	ENST00000518156.2	+	1	561_562	c.131_132insGCC	c.(130-135)cagccg>caGCCgccg	p.53_54insP	DLX6-AS1_ENST00000452769.2_RNA|DLX6_ENST00000555308.1_5'Flank|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000431497.2_RNA|DLX6-AS1_ENST00000430027.3_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS2_ENST00000606174.1_RNA|DLX6_ENST00000007660.5_Intron|DLX6-AS1_ENST00000605417.1_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	0					anatomical structure formation involved in morphogenesis (GO:0048646)|embryonic limb morphogenesis (GO:0030326)|epithelial cell differentiation (GO:0030855)|head development (GO:0060322)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|palate development (GO:0060021)|positive regulation of epithelial cell proliferation (GO:0050679)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					caacagcaacagccgccgccgc	0.698														532	0.10623	0.0076	0.0893	5008	,	,		7133	0.0685		0.1948	False		,,,				2504	0.1994					ENST00000518156.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12						c.(130-132)ccc>cGCCcc		distal-less homeobox 6																																				SO:0001652	inframe_insertion	1750				nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:96635420_96635421insGCC		CCDS47647.1, CCDS47647.2	7q21.3	2011-06-20	2005-12-22		ENSG00000006377	ENSG00000006377		"""Homeoboxes / ANTP class : NKL subclass"""	2919	protein-coding gene	gene with protein product		600030	"""distal-less homeo box 6"""			7907794	Standard	NM_005222		Approved		uc022ahu.1	P56179	OTTHUMG00000154201	ENST00000518156.2:c.156_158dupGCC	7.37:g.96635427_96635429dupGCC	ENSP00000428480:p.Pro54_Pro55dup					DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6_ENST00000007660.5_Intron|DLX6-AS1_ENST00000430027.2_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000430404.2_RNA	p.43_44insR			P56179	DLX6_HUMAN			1	561_562	+	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)		0					A4D1I2|B3KSQ0|J3KR92|Q3ZAR6|Q9UPL2	In_Frame_Ins	INS	ENST00000518156.2	37	c.131_132insGCC	CCDS47647.2																																																																																				0.698	DLX6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334373.4	NM_005222		4	4						4	4	---	---	---	---
CIZ1	25792	broad.mit.edu	37	9	130953109	130953111	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-DU-A7TI-01A-11D-A33T-08	TCGA-DU-A7TI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3959f0ac-f2a0-4761-9969-06eea3af0235	7babad52-46f6-4519-af6d-5c25e171c271	g.chr9:130953109_130953111delGCT	ENST00000393608.1	-	2	228_230	c.26_28delAGC	c.(25-30)cagctc>ctc	p.Q9del	CIZ1_ENST00000325721.8_In_Frame_Del_p.Q9del|CIZ1_ENST00000372948.3_In_Frame_Del_p.Q9del|CIZ1_ENST00000372954.1_In_Frame_Del_p.Q9del|CIZ1_ENST00000541172.1_5'UTR|CIZ1_ENST00000476727.2_5'UTR|CIZ1_ENST00000538431.1_In_Frame_Del_p.Q9del|CIZ1_ENST00000357558.5_In_Frame_Del_p.Q9del|CIZ1_ENST00000277465.4_In_Frame_Del_p.Q9del|CIZ1_ENST00000372938.5_In_Frame_Del_p.Q9del	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	9	Gln-rich.			Missing (in Ref. 7; AAF23231). {ECO:0000305}.	maintenance of protein location in nucleus (GO:0051457)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						tgttgctggagctgctgctgctg	0.611																																						ENST00000538431.1																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						c.(25-30)ctc>c		CDKN1A interacting zinc finger protein 1			,,,,	114,3828		2,110,1859					,,,,	1.9	0.9			11	280,7402		13,254,3574	no	coding,coding,coding,coding,coding	CIZ1	NM_012127.2,NM_001131018.1,NM_001131017.1,NM_001131016.1,NM_001131015.1	,,,,	15,364,5433	A1A1,A1R,RR		3.6449,2.8919,3.3895	,,,,	,,,,		394,11230				SO:0001651	inframe_deletion	25792					nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr9:130953109_130953111delGCT	AB030835	CCDS6894.1, CCDS48033.1, CCDS48034.1, CCDS75910.1	9q34.1	2012-10-05			ENSG00000148337	ENSG00000148337			16744	protein-coding gene	gene with protein product		611420				10529385	Standard	NM_001131015		Approved	LSFR1, ZNF356	uc011mas.2	Q9ULV3	OTTHUMG00000020735	ENST00000393608.1:c.26_28delAGC	9.37:g.130953118_130953120delGCT	ENSP00000377232:p.Gln9del					CIZ1_ENST00000372938.5_In_Frame_Del_p.QL9del|CIZ1_ENST00000476727.2_5'UTR|CIZ1_ENST00000372954.1_In_Frame_Del_p.QL9del|CIZ1_ENST00000357558.5_In_Frame_Del_p.QL9del|CIZ1_ENST00000325721.8_In_Frame_Del_p.QL9del|CIZ1_ENST00000277465.4_In_Frame_Del_p.QL9del|CIZ1_ENST00000393608.1_In_Frame_Del_p.QL9del|CIZ1_ENST00000541172.1_5'UTR|CIZ1_ENST00000372948.3_In_Frame_Del_p.QL9del	p.QL9del	NM_001257975.1	NP_001244904.1	Q9ULV3	CIZ1_HUMAN			2	273_275	-			9	Missing (in Ref. 7; AAF23231).		Gln-rich.		A8K9J8|B4E131|B7ZAS8|Q5SYW3|Q5SYW5|Q8WU72|Q9H868|Q9NYM8|Q9UHK4|Q9Y3F9|Q9Y3G0	In_Frame_Del	DEL	ENST00000393608.1	37	c.26_28delAGC	CCDS6894.1																																																																																				0.611	CIZ1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054399.1	NM_012127		3	4						3	4	---	---	---	---
PIEZO2	63895	broad.mit.edu	37	18	10671600	10671602	+	In_Frame_Del	DEL	TCT	TCT	-	rs370887467		TCGA-DU-A7TI-01A-11D-A33T-08	TCGA-DU-A7TI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3959f0ac-f2a0-4761-9969-06eea3af0235	7babad52-46f6-4519-af6d-5c25e171c271	g.chr18:10671600_10671602delTCT	ENST00000503781.3	-	52	8180_8182	c.8181_8183delAGA	c.(8179-8184)gaagat>gat	p.E2727del	PIEZO2_ENST00000581680.1_5'Flank|PIEZO2_ENST00000285141.4_In_Frame_Del_p.E519del|PIEZO2_ENST00000302079.6_In_Frame_Del_p.E2664del|PIEZO2_ENST00000538948.1_In_Frame_Del_p.E684del|PIEZO2_ENST00000580640.1_In_Frame_Del_p.E2752del	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2727			Missing (in DA5; causes slowing of inactivation of PIEZO2-dependent mechanically activated currents as well as significantly faster recovery from inactivation compared to wild-type). {ECO:0000269|PubMed:23487782}.		cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)										GGCATAGAGATCTTCTTCTAGCT	0.365																																						ENST00000302079.6																			0											c.(7990-7995)gat>ga		piezo-type mechanosensitive ion channel component 2																																				SO:0001651	inframe_deletion	63895					integral to membrane	ion channel activity	g.chr18:10671600_10671602delTCT	AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"""chromosome 18 open reading frame 30"", ""chromosome 18 open reading frame 58"", ""family with sequence similarity 38, member B"""	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.8181_8183delAGA	18.37:g.10671606_10671608delTCT	ENSP00000421377:p.Glu2727del					PIEZO2_ENST00000538948.1_In_Frame_Del_p.ED684del|PIEZO2_ENST00000503781.3_In_Frame_Del_p.ED2727del|PIEZO2_ENST00000580640.1_In_Frame_Del_p.ED2752del|PIEZO2_ENST00000285141.4_In_Frame_Del_p.ED519del	p.ED2664del			Q9H5I5	PIEZ2_HUMAN			51	7991_7993	-			2727					B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	In_Frame_Del	DEL	ENST00000503781.3	37	c.7992_7994delAGA																																																																																					0.365	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442385.4	NM_022068		11	78						11	78	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76814303	76814306	+	Frame_Shift_Del	DEL	ATAA	ATAA	-			TCGA-DU-A7TI-01A-11D-A33T-08	TCGA-DU-A7TI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3959f0ac-f2a0-4761-9969-06eea3af0235	7babad52-46f6-4519-af6d-5c25e171c271	g.chrX:76814303_76814306delATAA	ENST00000373344.5	-	29	6552_6555	c.6338_6341delTTAT	c.(6337-6342)tttatcfs	p.FI2113fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.FI2075fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2113	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with MECP2.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.F2113fs*9(1)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						AGTAGAAATGATAAATAATCGTCC	0.289			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		2	Unknown(1)|Deletion - Frameshift(1)	p.F2113fs*9(1)|p.?(1)	bone(1)|pancreas(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(6337-6342)tcfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76814303_76814306delATAA	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.6338_6341delTTAT	X.37:g.76814307_76814310delATAA	ENSP00000362441:p.Phe2113fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.FI2075fs	p.FI2113fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			29	6552_6555	-			2113			Helicase C-terminal.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.6338_6341delTTAT	CCDS14434.1																																																																																				0.289	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		46	74						46	74	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76938099	76938100	+	Frame_Shift_Del	DEL	TT	TT	-	rs587778086		TCGA-DU-A7TI-01A-11D-A33T-08	TCGA-DU-A7TI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3959f0ac-f2a0-4761-9969-06eea3af0235	7babad52-46f6-4519-af6d-5c25e171c271	g.chrX:76938099_76938100delTT	ENST00000373344.5	-	9	2862_2863	c.2648_2649delAA	c.(2647-2649)caafs	p.Q883fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.Q845fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	883					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TCTCTCTCTCTTGTTTTCTTTC	0.401			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(2647-2649)cfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76938099_76938100delTT	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.2648_2649delAA	X.37:g.76938099_76938100delTT	ENSP00000362441:p.Gln883fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.Q845fs	p.Q883fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	2862_2863	-			883					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.2648_2649delAA	CCDS14434.1																																																																																				0.401	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		91	270						91	270	---	---	---	---
