#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_Description	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_AccessionNumbers	i_HGNC_CCDS IDs	i_HGNC_CCDSIDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_DateModified	i_HGNC_DateNameChanged	i_HGNC_DateSymbolChanged	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_EnsemblGeneID	i_HGNC_EnsemblIDsuppliedbyEnsembl	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_Genefamilydescription	i_HGNC_HGNC ID	i_HGNC_HGNCID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_LocusGroup	i_HGNC_LocusType	i_HGNC_Name Synonyms	i_HGNC_NameSynonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_OMIMIDsuppliedbyNCBI	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_PreviousNames	i_HGNC_PreviousSymbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_PubmedIDs	i_HGNC_Record Type	i_HGNC_RecordType	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_RefSeqsuppliedbyNCBI	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UCSCIDsuppliedbyUCSC	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_UniProtIDsuppliedbyUniProt	i_HGNC_VEGA IDs	i_HGNC_VEGAIDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Region	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_GERP_NR	i_dbNSFP_GERP_RS	i_dbNSFP_GERP_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_hg18_pos1coor	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_init_n_lod	i_init_t_lod	i_n_alt_count	i_n_alt_count_full	i_n_ref_count	i_n_ref_count_full	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_lod_fstar	i_t_lod_fstar_full	i_t_ref_count_full	i_tumor_f_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	tumor_f
ARID2	196528	broad.mit.edu	37	12	46287220	46287220	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A984-01A-11D-A39W-08	TCGA-YZ-A984-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5de40e2-d2f6-4027-a8ad-f910915e22e7	5111a54d-a424-4c60-b712-670f14bb3450	g.chr12:46287220G>A	ENST00000334344.6	+	19	5337	c.5165G>A	c.(5164-5166)gGc>gAc	p.G1722D	ARID2_ENST00000444670.1_Missense_Mutation_p.G1332D|ARID2_ENST00000457135.1_Missense_Mutation_p.G330D|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.G1573D	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1722					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		ACTGTAGGGGGCACAAGCTCA	0.483			"""N, S, F"""		hepatocellular carcinoma																																	ENST00000334344.6		Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	0			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(5164-5166)gGc>gAc	AT rich interactive domain 2 (ARID, RFX-like)						71.0	60.0	64.0					12																	46287220		2203	4300	6503	SO:0001583	missense	196528			chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46287220G>A			CCDS31783.1	CCDS31783.1	12q13.11	2013-02-07			2013-02-07			ENSG00000189079	ENSG00000189079	ENSG00000189079	ENSG00000189079		"""-"""	"""-"""	18037	18037	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609539	609539								Standard	Standard	NM_152641	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	uc001ros.1	Q68CP9	Q68CP9	OTTHUMG00000150487	OTTHUMG00000150487	ENST00000334344.6:c.5165G>A	12.37:g.46287220G>A	ENSP00000335044:p.Gly1722Asp		ARID2_ENST00000422737.1_Missense_Mutation_p.G1573D|ARID2_ENST00000444670.1_Missense_Mutation_p.G1332D|ARID2_ENST00000457135.1_Missense_Mutation_p.G330D|ARID2_ENST00000479608.1_3'UTR	p.G1722D	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	19	5337	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	1722		Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	c.5165G>A	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.910338	0.52439	.	.	ENSG00000189079	ENST00000334344;ENST00000549153;ENST00000338636;ENST00000422737;ENST00000444670;ENST00000457135	T	0.32272	1.46	5.4	5.4	0.78164	5.4	5.4	0.78164	.	0.187530	0.48286	D	0.000183	T	0.26521	0.0648	L	0.29908	0.895	0.41564	D	0.988649	B;B;B	0.34290	0.447;0.447;0.242	B;B;B	0.36244	0.22;0.147;0.054	T	0.06427	-1.0827	10	0.49607	T	0.09	-1.9611	14.718	0.69284	0.0:0.2665:0.7335:0.0	.	1722;1332;1722	Q68CP9-3;F8W108;Q68CP9	.;.;ARID2_HUMAN	D	1722;839;839;1573;1332;330	ENSP00000335044:G1722D	ENSP00000335044:G1722D	G	+	2	0	0	ARID2	44573487	44573487	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.618000	0.54188	2.536000	0.85505	0.591000	0.81541	GGC		0.483	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2		1.415661	2	2	26	26	XM_350875		3	6.711165	6.711165	29	0.093750	0	0	0	1	0	3	29	0.09375
TMEM44	93109	broad.mit.edu	37	3	194346636	194346636	+	Silent	SNP	C	C	T			TCGA-YZ-A984-01A-11D-A39W-08	TCGA-YZ-A984-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5de40e2-d2f6-4027-a8ad-f910915e22e7	5111a54d-a424-4c60-b712-670f14bb3450	g.chr3:194346636C>T	ENST00000392432.2	-	3	553	c.348G>A	c.(346-348)aaG>aaA	p.K116K	TMEM44_ENST00000473092.1_Silent_p.K116K|TMEM44_ENST00000381975.3_Silent_p.K116K|TMEM44_ENST00000347147.4_Silent_p.K116K|TMEM44_ENST00000273580.7_Silent_p.K116K|TMEM44_ENST00000330115.3_Silent_p.K13K	NM_001166305.1	NP_001159777.1	Q2T9K0	TMM44_HUMAN	transmembrane protein 44	116						integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|urinary_tract(1)	8	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)		CTGAATTAGACTTGAATTTGG	0.468																																						ENST00000392432.2											0			breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|urinary_tract(1)	8						c.(346-348)aaG>aaA	transmembrane protein 44						208.0	192.0	197.0					3																	194346636		2203	4300	6503	SO:0001819	synonymous_variant	93109				integral to membrane		g.chr3:194346636C>T	AL833026	AL833026	CCDS3308.1, CCDS33921.1, CCDS3308.2, CCDS54698.1, CCDS54699.1	CCDS3308.1, CCDS33921.1, CCDS3308.2, CCDS54698.1, CCDS54699.1	3q29	2005-08-16			2005-08-16			ENSG00000145014	ENSG00000145014	ENSG00000145014	ENSG00000145014				25120	25120	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_138399	NM_138399		Approved	DKFZp686O18124	uc010hzn.3	uc010hzn.3	Q2T9K0	Q2T9K0	OTTHUMG00000156023	OTTHUMG00000156023	ENST00000392432.2:c.348G>A	3.37:g.194346636C>T			TMEM44_ENST00000273580.7_Silent_p.K116K|TMEM44_ENST00000330115.3_Silent_p.K13K|TMEM44_ENST00000381975.3_Silent_p.K116K|TMEM44_ENST00000347147.4_Silent_p.K116K|TMEM44_ENST00000473092.1_Silent_p.K116K	p.K116K	NM_001166305.1	NP_001159777.1	Q2T9K0	TMM44_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)	3	553	-	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		116		A1L3V7|B7ZLZ5|B7ZLZ6|C9JJ62|E9PGA9|Q0P6F7|Q6ZT47|Q8IXR1|Q8N4G3	Silent	SNP	ENST00000392432.2	37	c.348G>A	CCDS54699.1																																																																																									0.468	TMEM44-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000342750.1		165.109768	9	9	111	111	NM_138399		49	171.209756	171.209756	10	0.830508	0	0	0	1	0	49	10	0.830508
SPARCL1	8404	broad.mit.edu	37	4	88414959	88414959	+	Silent	SNP	C	C	T	rs145736129		TCGA-YZ-A984-01A-11D-A39W-08	TCGA-YZ-A984-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5de40e2-d2f6-4027-a8ad-f910915e22e7	5111a54d-a424-4c60-b712-670f14bb3450	g.chr4:88414959C>T	ENST00000282470.6	-	4	1463	c.993G>A	c.(991-993)acG>acA	p.T331T	SPARCL1_ENST00000503414.1_Silent_p.T206T|SPARCL1_ENST00000418378.1_Silent_p.T331T	NM_004684.4	NP_004675.3	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	331					signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		GATTTCTGGGCGTGGTATTAC	0.483													C|||	1	0.000199681	0.0	0.0	5008	,	,		20511	0.001		0.0	False		,,,				2504	0.0					ENST00000418378.1											0			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21						c.(991-993)acG>acA	SPARC-like 1 (hevin)	C	,	0,4406		0,0,2203	191.0	159.0	170.0		993,993	1.4	0.0	4	dbSNP_134	170	3,8597	3.7+/-12.6	0,3,4297	no	coding-synonymous,coding-synonymous	SPARCL1	NM_001128310.1,NM_004684.4	,	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	,	331/665,331/665	88414959	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	8404			signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding	g.chr4:88414959C>T	X86693	X86693	CCDS3622.1	CCDS3622.1	4q22-q25	2013-01-10	2008-08-29		2013-01-10	2008-08-29		ENSG00000152583	ENSG00000152583	ENSG00000152583	ENSG00000152583		"""EF-hand domain containing"""	"""EF-hand domain containing"""	11220	11220	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606041	606041	"""SPARC-like 1 (mast9, hevin)"""		"""SPARC-like 1 (mast9, hevin)"""			8488563, 7600298, 16844696	8488563, 7600298, 16844696	Standard	Standard	NM_001128310	NM_001128310		Approved	MAST9	uc003hqs.4	uc003hqs.4	Q14515	Q14515	OTTHUMG00000130605	OTTHUMG00000130605	ENST00000282470.6:c.993G>A	4.37:g.88414959C>T			SPARCL1_ENST00000282470.6_Silent_p.T331T|SPARCL1_ENST00000503414.1_Silent_p.T206T	p.T331T	NM_001128310.1	NP_001121782.1	Q14515	SPRL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00118)	5	1564	-			331		B4E2Z0|E7ESU2|Q14800	Silent	SNP	ENST00000282470.6	37	c.993G>A	CCDS3622.1																																																																																									0.483	SPARCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253059.2		193.929610	11	11	141	141			63	194.310057	194.310057	49	0.562500	0	0	0	1	0	63	49	0.5625
PRDM2	7799	hgsc.bcm.edu	37	1	14106463	14106463	+	Missense_Mutation	SNP	A	A	G	rs139578720	byFrequency	TCGA-YZ-A984-01A-11D-A39W-08	TCGA-YZ-A984-10A-01D-A39Z-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b5de40e2-d2f6-4027-a8ad-f910915e22e7	5111a54d-a424-4c60-b712-670f14bb3450	g.chr1:14106463A>G	ENST00000235372.7	+	8	3029	c.2173A>G	c.(2173-2175)Atg>Gtg	p.M725V	PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.M524V|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.M524V|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.M725V	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	725					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		TCCTGCATCAATGTTGCCTGT	0.473													A|||	3	0.000599042	0.0008	0.0	5008	,	,		20391	0.002		0.0	False		,,,				2504	0.0																0												A	VAL/MET,,VAL/MET,VAL/MET	3,4403	6.2+/-15.9	0,3,2200	101.0	99.0	100.0		1570,,2173,2173	2.0	0.6	1	dbSNP_134	100	1,8599	1.2+/-3.3	0,1,4299	yes	missense,intron,missense,missense	PRDM2	NM_001007257.2,NM_001135610.1,NM_012231.4,NM_015866.4	21,,21,21	0,4,6499	GG,GA,AA		0.0116,0.0681,0.0308	benign,,benign,benign	524/1482,,725/1719,725/1683	14106463	4,13002	2203	4300	6503	SO:0001583	missense	7799							U17838	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			2011-07-01			ENSG00000116731	ENSG00000116731	ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	9347	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196	601196						7538672	7538672	Standard	Standard	NM_012231	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	uc001avi.3	Q13029	Q13029	OTTHUMG00000007917	OTTHUMG00000007917	ENST00000235372.7:c.2173A>G	1.37:g.14106463A>G	ENSP00000235372:p.Met725Val																	B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	37		CCDS150.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	A	0.065	-1.215976	0.01542	6.81E-4	1.16E-4	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.01388	5.07;4.95;4.96;4.96	5.61	1.97	0.26223	5.61	1.97	0.26223	.	0.405138	0.30911	N	0.008629	T	0.00724	0.0024	N	0.14661	0.345	0.20638	N	0.999876	B;B;B;B	0.20368	0.015;0.0;0.044;0.026	B;B;B;B	0.17979	0.009;0.0;0.009;0.02	T	0.47824	-0.9087	10	0.02654	T	1	.	1.7173	0.02904	0.5704:0.1423:0.1506:0.1368	.	725;583;725;725	A8MW16;Q5THJ0;Q13029;Q13029-2	.;.;PRDM2_HUMAN;.	V	725;725;725;524;524	ENSP00000235372:M725V;ENSP00000312352:M725V;ENSP00000411103:M524V;ENSP00000341621:M524V	ENSP00000235372:M725V	M	+	1	0	0	PRDM2	13979050	13979050	0.019000	0.18553	0.572000	0.28498	0.961000	0.63080	0.313000	0.19415	0.465000	0.27167	0.533000	0.62120	ATG		0.473	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2			-7	-7	107	107	NM_012231		55			43							55	43	
CNOT1	23019	broad.mit.edu	37	16	58610395	58610395	+	Missense_Mutation	SNP	C	C	A			TCGA-YZ-A984-01A-11D-A39W-08	TCGA-YZ-A984-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5de40e2-d2f6-4027-a8ad-f910915e22e7	5111a54d-a424-4c60-b712-670f14bb3450	g.chr16:58610395C>A	ENST00000317147.5	-	14	2008	c.1676G>T	c.(1675-1677)cGa>cTa	p.R559L	CNOT1_ENST00000569240.1_Missense_Mutation_p.R559L|CNOT1_ENST00000441024.2_Missense_Mutation_p.R559L	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	559					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		ATCAAGTATTCGAGACAATTT	0.478																																						ENST00000317147.5											0			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87						c.(1675-1677)cGa>cTa	CCR4-NOT transcription complex, subunit 1						187.0	141.0	156.0					16																	58610395		2198	4300	6498	SO:0001583	missense	23019			nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58610395C>A	AL833549	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			2008-02-05			ENSG00000125107	ENSG00000125107	ENSG00000125107	ENSG00000125107				7877	7877	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604917	604917		NOT1		NOT1		14702039	14702039	Standard	Standard	NM_016284	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	uc002env.4	A5YKK6	A5YKK6	OTTHUMG00000133487	OTTHUMG00000133487	ENST00000317147.5:c.1676G>T	16.37:g.58610395C>A	ENSP00000320949:p.Arg559Leu		CNOT1_ENST00000441024.2_Missense_Mutation_p.R559L|CNOT1_ENST00000569240.1_Missense_Mutation_p.R559L	p.R559L	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	14	2008	-			559		Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	c.1676G>T	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	C	37	6.308562	0.97462	.	.	ENSG00000125107	ENST00000317147;ENST00000394200;ENST00000441024	T;T	0.17054	2.3;2.3	5.77	5.77	0.91146	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.53932	0.1827	M	0.91818	3.245	0.80722	D	1	D;D;D	0.89917	0.992;1.0;1.0	D;D;D	0.91635	0.979;0.997;0.999	T	0.61978	-0.6951	9	.	.	.	11.9105	19.9986	0.97401	0.0:1.0:0.0:0.0	.	559;559;559	A5YKK6-4;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	L	559	ENSP00000320949:R559L;ENSP00000413113:R559L	.	R	-	2	0	0	CNOT1	57167896	57167896	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.733000	0.93635	0.650000	0.86243	CGA		0.478	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3		-10.436814	-4	-4	119	119	NM_016284		3	6.382469	6.382469	71	0.040541	1	0	1	1	1	3	71	0.040541
HERC2	8924	broad.mit.edu	37	15	28441638	28441638	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YZ-A984-01A-11D-A39W-08	TCGA-YZ-A984-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5de40e2-d2f6-4027-a8ad-f910915e22e7	5111a54d-a424-4c60-b712-670f14bb3450	g.chr15:28441638C>A	ENST00000261609.7	-	51	8197	c.8089G>T	c.(8089-8091)Gag>Tag	p.E2697*		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GGTACCAACTCCATTTCTGAT	0.408																																						ENST00000261609.7											0			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(8089-8091)Gag>Tag	HECT and RLD domain containing E3 ubiquitin protein ligase 2						107.0	106.0	106.0					15																	28441638		2203	4300	6503	SO:0001587	stop_gained	8924			DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28441638C>A	AF071172	AF071172	CCDS10021.1	CCDS10021.1	15q13	2012-02-23	2012-02-23		2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731	ENSG00000128731	ENSG00000128731				4868	4868	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605837	605837	"""hect domain and RLD 2"""		"""hect domain and RLD 2"""			9949213	9949213	Standard	Standard	NM_004667	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	uc001zbj.4	O95714	O95714	OTTHUMG00000129251	OTTHUMG00000129251	ENST00000261609.7:c.8089G>T	15.37:g.28441638C>A	ENSP00000261609:p.Glu2697*			p.E2697*	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	51	8197	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	2697			Nonsense_Mutation	SNP	ENST00000261609.7	37	c.8089G>T	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	48	14.590650	0.99802	.	.	ENSG00000128731	ENST00000261609	.	.	.	5.3	5.3	0.74995	5.3	5.3	0.74995	.	0.120957	0.56097	D	0.000040	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.3101	0.94184	0.0:1.0:0.0:0.0	.	.	.	.	X	2697	.	ENSP00000261609:E2697X	E	-	1	0	0	HERC2	26115233	26115233	1.000000	0.71417	1.000000	0.80357	0.061000	0.15899	7.776000	0.85560	2.649000	0.89929	0.484000	0.47621	GAG		0.408	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2		161.638271	25	25	119	119	NM_004667		54	161.690306	161.690306	49	0.524272	1	0	1.72039e-30	1	2.21193e-30	54	49	0.524272
TOP2B	7155	broad.mit.edu	37	3	25665189	25665189	+	Missense_Mutation	SNP	C	C	A			TCGA-YZ-A984-01A-11D-A39W-08	TCGA-YZ-A984-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5de40e2-d2f6-4027-a8ad-f910915e22e7	5111a54d-a424-4c60-b712-670f14bb3450	g.chr3:25665189C>A	ENST00000264331.4	-	21	2543	c.2544G>T	c.(2542-2544)aaG>aaT	p.K848N	TOP2B_ENST00000435706.2_Missense_Mutation_p.K843N	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	848					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	CATAAAGGAACTTAAGGAGGT	0.388																																						ENST00000435706.2											0			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						c.(2527-2529)aaG>aaT	topoisomerase (DNA) II beta 180kDa						69.0	62.0	64.0					3																	25665189		1853	4091	5944	SO:0001583	missense	7155			DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity	g.chr3:25665189C>A	X68060	X68060	CCDS46776.1	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	ENSG00000077097	ENSG00000077097	5.99.1.3			11990	11990	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			126431	126431	"""topoisomerase (DNA) II beta (180kD)"""		"""topoisomerase (DNA) II beta (180kD)"""			1309226, 1333583	1309226, 1333583	Standard	Standard	NM_001068	NM_001068		Approved		uc003cdj.3	uc003cdj.3	Q02880	Q02880	OTTHUMG00000155596	OTTHUMG00000155596	ENST00000264331.4:c.2544G>T	3.37:g.25665189C>A	ENSP00000264331:p.Lys848Asn		TOP2B_ENST00000264331.4_Missense_Mutation_p.K848N	p.K843N			Q02880	TOP2B_HUMAN			21	2730	-			848		Q13600|Q9UMG8|Q9UQP8	Missense_Mutation	SNP	ENST00000264331.4	37	c.2529G>T		.	.	.	.	.	.	.	.	.	.	C	12.04	1.817903	0.32145	.	.	ENSG00000077097	ENST00000435706;ENST00000264331;ENST00000424225	T;T	0.44881	0.91;0.91	5.43	1.41	0.22369	5.43	1.41	0.22369	.	0.000000	0.85682	D	0.000000	T	0.23492	0.0568	N	0.16016	0.355	0.80722	D	1	B	0.14438	0.01	B	0.21360	0.034	T	0.05402	-1.0887	10	0.21014	T	0.42	-11.3882	10.7836	0.46393	0.0:0.6438:0.0:0.3562	.	843	Q02880-2	.	N	843;848;843	ENSP00000396704:K843N;ENSP00000264331:K848N	ENSP00000264331:K848N	K	-	3	2	2	TOP2B	25640193	25640193	0.999000	0.42202	0.998000	0.56505	0.965000	0.64279	0.698000	0.25571	0.028000	0.15324	0.557000	0.71058	AAG		0.388	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			2.202463	-8	-8	22	22			3	6.744387	6.744387	26	0.103448	1	0	6.4e-05	1	7.2e-05	3	26	0.103448
ATP2A3	489	broad.mit.edu	37	17	3833685	3833685	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A984-01A-11D-A39W-08	TCGA-YZ-A984-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5de40e2-d2f6-4027-a8ad-f910915e22e7	5111a54d-a424-4c60-b712-670f14bb3450	g.chr17:3833685C>T	ENST00000352011.3	-	18	2708	c.2654G>A	c.(2653-2655)gGc>gAc	p.G885D	ATP2A3_ENST00000397041.3_Missense_Mutation_p.G885D|ATP2A3_ENST00000397043.3_Missense_Mutation_p.G885D|ATP2A3_ENST00000359983.3_Missense_Mutation_p.G885D|ATP2A3_ENST00000397035.3_Missense_Mutation_p.G885D|ATP2A3_ENST00000397039.1_Missense_Mutation_p.G69D|ATP2A3_ENST00000309890.7_Missense_Mutation_p.G885D			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	885					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		ACAGTCGATGCCGGCAAAGAG	0.612																																					GBM(32;29 774 15719 37967)	ENST00000309890.7											0			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(2653-2655)gGc>gAc	ATPase, Ca++ transporting, ubiquitous						99.0	76.0	84.0					17																	3833685		2203	4299	6502	SO:0001583	missense	489			ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr17:3833685C>T			CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			2012-10-22			ENSG00000074370	ENSG00000074370	ENSG00000074370	ENSG00000074370	3.6.3.8	"""ATPases / P-type"""	"""ATPases / P-type"""	813	813	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 3"", ""calcium pump 3"""	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 3"", ""calcium pump 3"""	601929	601929						8809064	8809064	Standard	Standard	NM_005173	NM_005173		Approved	SERCA3	uc002fwy.2	uc002fwy.2	Q93084	Q93084			ENST00000352011.3:c.2654G>A	17.37:g.3833685C>T	ENSP00000301387:p.Gly885Asp		ATP2A3_ENST00000352011.3_Missense_Mutation_p.G885D|ATP2A3_ENST00000397039.1_Missense_Mutation_p.G69D|ATP2A3_ENST00000397041.3_Missense_Mutation_p.G885D|ATP2A3_ENST00000397043.3_Missense_Mutation_p.G885D|ATP2A3_ENST00000397035.3_Missense_Mutation_p.G885D|ATP2A3_ENST00000359983.3_Missense_Mutation_p.G885D	p.G885D	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN		LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)	18	2804	-			885		A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Missense_Mutation	SNP	ENST00000352011.3	37	c.2654G>A	CCDS11041.1	.	.	.	.	.	.	.	.	.	.	C	6.993	0.553332	0.13374	.	.	ENSG00000074370	ENST00000397043;ENST00000397039;ENST00000352011;ENST00000359983;ENST00000397041;ENST00000397045;ENST00000309890;ENST00000397035	D;D;D;D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43;-2.43;-2.43;-2.43	3.78	1.37	0.22104	3.78	1.37	0.22104	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.379891	0.28736	N	0.014319	T	0.82254	0.4997	L	0.45470	1.425	0.54753	D	0.999982	B;B;B;B;B;B	0.12013	0.0;0.0;0.0;0.005;0.002;0.001	B;B;B;B;B;B	0.13407	0.001;0.004;0.006;0.009;0.009;0.009	T	0.72030	-0.4413	10	0.30854	T	0.27	.	8.1506	0.31139	0.0:0.7576:0.0:0.2424	.	885;885;885;885;885;885	Q93084-4;Q93084-2;Q93084;Q93084-6;G3XAE1;Q93084-3	.;.;AT2A3_HUMAN;.;.;.	D	885;69;885;885;885;885;885;885	ENSP00000380236:G885D;ENSP00000380232:G69D;ENSP00000301387:G885D;ENSP00000353072:G885D;ENSP00000380234:G885D;ENSP00000312577:G885D;ENSP00000380229:G885D	ENSP00000312577:G885D	G	-	2	0	0	ATP2A3	3780434	3780434	0.019000	0.18553	0.016000	0.15963	0.077000	0.17291	1.418000	0.34782	0.357000	0.24183	0.467000	0.42956	GGC		0.612	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438401.1		2.102147	-14	-14	24	24	NM_174953		3	6.644526	6.644526	26	0.103448	0	0	0	1	0	3	26	0.103448
CYLD	1540	broad.mit.edu	37	16	50788282	50788282	+	Missense_Mutation	SNP	G	G	T			TCGA-YZ-A984-01A-11D-A39W-08	TCGA-YZ-A984-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5de40e2-d2f6-4027-a8ad-f910915e22e7	5111a54d-a424-4c60-b712-670f14bb3450	g.chr16:50788282G>T	ENST00000427738.3	+	4	1065	c.860G>T	c.(859-861)aGt>aTt	p.S287I	CYLD_ENST00000398568.2_Missense_Mutation_p.S287I|CYLD_ENST00000564326.1_Missense_Mutation_p.S287I|CYLD_ENST00000566206.1_Missense_Mutation_p.S287I|CYLD_ENST00000569418.1_Missense_Mutation_p.S287I|CYLD_ENST00000311559.9_Missense_Mutation_p.S287I|CYLD_ENST00000568704.2_Missense_Mutation_p.S287I|CYLD_ENST00000540145.1_Missense_Mutation_p.S287I			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	287	Interaction with TRIP.				cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				CAGCTTTGTAGTTTTGCGTGT	0.308			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																													ENST00000540145.1	yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	familial cylindromatosis gene		E	0			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62						c.(859-861)aGt>aTt	cylindromatosis (turban tumor syndrome)						161.0	149.0	152.0					16																	50788282		1846	4093	5939	SO:0001583	missense	1540	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr16:50788282G>T	AB020656	AB020656	CCDS42164.1, CCDS45482.1	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17			2014-09-17										2584	2584	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""ubiquitin specific peptidase like 2"""	"""ubiquitin specific peptidase like 2"""	605018	605018		CYLD1		CYLD1		7493027	7493027	Standard	Standard	NM_015247	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	uc002egq.1	Q9NQC7	Q9NQC7			ENST00000427738.3:c.860G>T	16.37:g.50788282G>T	ENSP00000392025:p.Ser287Ile		CYLD_ENST00000568704.2_Missense_Mutation_p.S287I|CYLD_ENST00000427738.3_Missense_Mutation_p.S287I|CYLD_ENST00000566206.1_Missense_Mutation_p.S287I|CYLD_ENST00000569418.1_Missense_Mutation_p.S287I|CYLD_ENST00000398568.2_Missense_Mutation_p.S287I|CYLD_ENST00000311559.9_Missense_Mutation_p.S287I|CYLD_ENST00000564326.1_Missense_Mutation_p.S287I	p.S287I			Q9NQC7	CYLD_HUMAN			6	1275	+		all_cancers(37;0.0156)	287	Interaction with TRIP.	O94934|Q7L3N6|Q96EH0|Q9NZX9	Missense_Mutation	SNP	ENST00000427738.3	37	c.860G>T	CCDS45482.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.916209	0.52546	.	.	ENSG00000083799	ENST00000540145;ENST00000311559;ENST00000427738;ENST00000398568	T;T;T;T	0.19806	2.12;2.12;2.12;2.12	5.98	5.98	0.97165	5.98	5.98	0.97165	Cytoskeleton-associated protein, Gly-rich domain (3);	0.042476	0.85682	D	0.000000	T	0.22898	0.0553	L	0.38175	1.15	0.53688	D	0.999972	P;P;P;P	0.39352	0.669;0.617;0.617;0.669	B;B;B;B	0.38106	0.265;0.173;0.173;0.265	T	0.00787	-1.1566	10	0.51188	T	0.08	-17.329	20.4447	0.99122	0.0:0.0:1.0:0.0	.	287;287;287;287	A8KAB0;F5H2R7;Q9NQC7-2;Q9NQC7	.;.;.;CYLD_HUMAN	I	287	ENSP00000445447:S287I;ENSP00000308928:S287I;ENSP00000392025:S287I;ENSP00000381574:S287I	ENSP00000308928:S287I	S	+	2	0	0	CYLD	49345783	49345783	1.000000	0.71417	1.000000	0.80357	0.650000	0.38633	6.808000	0.75206	2.834000	0.97654	0.655000	0.94253	AGT		0.308	CYLD-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422998.2		-4.119380	-1	-1	54	54			3	6.5529	6.552900	49	0.057692	1	0	1	1	1	3	49	0.057692
CDC40	51362	broad.mit.edu	37	6	110540993	110540993	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A984-01A-11D-A39W-08	TCGA-YZ-A984-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5de40e2-d2f6-4027-a8ad-f910915e22e7	5111a54d-a424-4c60-b712-670f14bb3450	g.chr6:110540993G>A	ENST00000368932.1	+	13	1362	c.1261G>A	c.(1261-1263)Gtc>Atc	p.V421I	CDC40_ENST00000368930.1_Missense_Mutation_p.V421I|CDC40_ENST00000307731.1_Missense_Mutation_p.V421I			O60508	PRP17_HUMAN	cell division cycle 40	421					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		TTTGGGAGCTGTCAACACCAT	0.408																																						ENST00000368932.1											0			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18						c.(1261-1263)Gtc>Atc	cell division cycle 40						211.0	190.0	197.0					6																	110540993		2203	4300	6503	SO:0001583	missense	51362			mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm		g.chr6:110540993G>A	AF015044	AF015044	CCDS5081.1	CCDS5081.1	6q22.1	2013-01-17	2013-01-17		2013-01-17	2013-01-17		ENSG00000168438	ENSG00000168438	ENSG00000168438	ENSG00000168438		"""WD repeat domain containing"""	"""WD repeat domain containing"""	17350	17350	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605585	605585	"""cell division cycle 40 homolog (yeast)"", ""cell division cycle 40 homolog (S. cerevisiae)"""		"""cell division cycle 40 homolog (yeast)"", ""cell division cycle 40 homolog (S. cerevisiae)"""			9769104, 9830021	9769104, 9830021	Standard	Standard	NM_015891	NM_015891		Approved	PRP17, EHB3, PRPF17, FLJ10564	uc003pua.3	uc003pua.3	O60508	O60508	OTTHUMG00000015358	OTTHUMG00000015358	ENST00000368932.1:c.1261G>A	6.37:g.110540993G>A	ENSP00000357928:p.Val421Ile		CDC40_ENST00000368930.1_Missense_Mutation_p.V421I|CDC40_ENST00000307731.1_Missense_Mutation_p.V421I	p.V421I			O60508	PRP17_HUMAN		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)	13	1362	+		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)	421		B2RBC5|O75471|Q5SRN0|Q9UPG1	Missense_Mutation	SNP	ENST00000368932.1	37	c.1261G>A	CCDS5081.1	.	.	.	.	.	.	.	.	.	.	G	30	5.057298	0.93846	.	.	ENSG00000168438	ENST00000368932;ENST00000368933;ENST00000368930;ENST00000307731	T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25	5.51	5.51	0.81932	5.51	5.51	0.81932	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.67297	0.2878	L	0.41573	1.285	0.80722	D	1	P	0.41848	0.763	P	0.55999	0.789	T	0.64063	-0.6495	10	0.34782	T	0.22	-6.1007	19.43	0.94760	0.0:0.0:1.0:0.0	.	421	O60508	PRP17_HUMAN	I	421	ENSP00000357928:V421I;ENSP00000357929:V421I;ENSP00000357926:V421I;ENSP00000304370:V421I	ENSP00000304370:V421I	V	+	1	0	0	CDC40	110647686	110647686	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.476000	0.97823	2.589000	0.87451	0.591000	0.81541	GTC		0.408	CDC40-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041791.1		62.296152	1	1	105	105	NM_015891		26	68.033302	68.033302	77	0.252427	0	0	0	1	0	26	77	0.252427
CHML	1122	broad.mit.edu	37	1	241797963	241797963	+	Missense_Mutation	SNP	C	C	T	rs200203736		TCGA-YZ-A984-01A-11D-A39W-08	TCGA-YZ-A984-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5de40e2-d2f6-4027-a8ad-f910915e22e7	5111a54d-a424-4c60-b712-670f14bb3450	g.chr1:241797963C>T	ENST00000366553.1	-	1	1269	c.1106G>A	c.(1105-1107)cGg>cAg	p.R369Q	OPN3_ENST00000366554.2_Intron|OPN3_ENST00000469376.1_Intron|OPN3_ENST00000331838.5_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	369					intracellular protein transport (GO:0006886)|protein geranylgeranylation (GO:0018344)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			GTTGCCAAACCGTCCGAGACA	0.418																																						ENST00000366553.1											0			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26						c.(1105-1107)cGg>cAg	choroideremia-like (Rab escort protein 2)	C	GLN/ARG,	1,4405	2.1+/-5.4	0,1,2202	95.0	96.0	96.0		1106,	3.1	0.8	1		96	0,8598		0,0,4299	yes	missense,intron	CHML,OPN3	NM_001821.3,NM_014322.2	43,	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,	369/657,	241797963	1,13003	2203	4299	6502	SO:0001583	missense	1122			intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	g.chr1:241797963C>T	X64728	X64728	CCDS31073.1	CCDS31073.1	1q43	2013-09-19			2013-09-19			ENSG00000203668	ENSG00000203668	ENSG00000203668	ENSG00000203668				1941	1941	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			118825	118825						7981670	7981670	Standard	Standard	NM_001821	NM_001821		Approved	REP-2	uc001hzd.3	uc001hzd.3	P26374	P26374	OTTHUMG00000039690	OTTHUMG00000039690	ENST00000366553.1:c.1106G>A	1.37:g.241797963C>T	ENSP00000355511:p.Arg369Gln		OPN3_ENST00000366554.2_Intron|OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron	p.R369Q	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0125)		1	1269	-	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	369		B2RAB9|Q17RE0|Q9H1Y4	Missense_Mutation	SNP	ENST00000366553.1	37	c.1106G>A	CCDS31073.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.362737	0.61403	2.27E-4	0.0	ENSG00000203668	ENST00000366553	D	0.88124	-2.34	4.96	3.1	0.35709	4.96	3.1	0.35709	.	0.187243	0.47852	U	0.000213	D	0.87309	0.6145	.	.	.	0.48452	D	0.999651	D	0.60160	0.987	P	0.49683	0.619	D	0.87755	0.2594	9	0.87932	D	0	-2.4762	9.5703	0.39425	0.0:0.8242:0.0:0.1758	.	369	P26374	RAE2_HUMAN	Q	369	ENSP00000355511:R369Q	ENSP00000355511:R369Q	R	-	2	0	0	CHML	239864586	239864586	1.000000	0.71417	0.847000	0.33407	0.840000	0.47671	3.008000	0.49544	1.469000	0.48083	0.655000	0.94253	CGG		0.418	CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095712.1		41.407861	13	13	65	65	NM_001821		15	43.645932	43.645932	38	0.283019	0	0	0	1	0	15	38	0.283019
SIGLEC1	6614	broad.mit.edu	37	20	3674277	3674277	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A984-01A-11D-A39W-08	TCGA-YZ-A984-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5de40e2-d2f6-4027-a8ad-f910915e22e7	5111a54d-a424-4c60-b712-670f14bb3450	g.chr20:3674277C>T	ENST00000344754.4	-	13	3324	c.3325G>A	c.(3325-3327)Gtg>Atg	p.V1109M	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.V1109M	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1109	Ig-like C2-type 11.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GTGGTCCACACAAGGCAGGTC	0.652																																						ENST00000344754.4											0			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						c.(3325-3327)Gtg>Atg	sialic acid binding Ig-like lectin 1, sialoadhesin						71.0	49.0	57.0					20																	3674277		2203	4300	6503	SO:0001583	missense	6614			cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3674277C>T	AF230073	AF230073	CCDS13060.1	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	11127	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600751	600751	"""sialoadhesin"""	SN	"""sialoadhesin"""	SN		8530048	8530048	Standard	Standard	XM_006723610	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	uc002wja.3	Q9BZZ2	Q9BZZ2	OTTHUMG00000031757	OTTHUMG00000031757	ENST00000344754.4:c.3325G>A	20.37:g.3674277C>T	ENSP00000341141:p.Val1109Met		SIGLEC1_ENST00000202578.4_Missense_Mutation_p.V1109M	p.V1109M	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN			13	3324	-			1109	Ig-like C2-type 11.	Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	c.3325G>A	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	C	19.41	3.822182	0.71028	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.13901	2.55;2.55	5.52	5.52	0.82312	5.52	5.52	0.82312	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.206543	0.24314	N	0.039618	T	0.45498	0.1345	M	0.88842	2.985	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.989	T	0.46091	-0.9216	10	0.72032	D	0.01	.	16.9389	0.86210	0.0:1.0:0.0:0.0	.	1109;1109	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	M	1109	ENSP00000341141:V1109M;ENSP00000202578:V1109M	ENSP00000202578:V1109M	V	-	1	0	0	SIGLEC1	3622277	3622277	0.106000	0.21978	0.061000	0.19648	0.941000	0.58515	2.243000	0.43115	2.612000	0.88384	0.655000	0.94253	GTG		0.652	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2		36.398940	-1	-1	27	27	NM_023068		12	36.39894	36.398940	12	0.500000	0	0	0	1	0	12	12	0.5
HOXB2	3212	broad.mit.edu	37	17	46620496	46620496	+	Silent	SNP	A	A	G			TCGA-YZ-A984-01A-11D-A39W-08	TCGA-YZ-A984-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5de40e2-d2f6-4027-a8ad-f910915e22e7	5111a54d-a424-4c60-b712-670f14bb3450	g.chr17:46620496A>G	ENST00000330070.4	-	2	2172	c.1005T>C	c.(1003-1005)ccT>ccC	p.P335P	HOXB2_ENST00000504772.3_5'UTR|HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS1_ENST00000508688.1_RNA|HOXB-AS1_ENST00000504972.3_RNA	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN	homeobox B2	335					anterior/posterior pattern specification (GO:0009952)|blood circulation (GO:0008015)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|neural nucleus development (GO:0048857)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P335P(2)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						CCTCGGAAAAAGGGACCGGGC	0.587																																						ENST00000330070.4											2	Substitution - coding silent(2)	lung(2)	NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						c.(1003-1005)ccT>ccC	homeobox B2						80.0	83.0	82.0					17																	46620496		2203	4300	6503	SO:0001819	synonymous_variant	3212			blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46620496A>G			CCDS11527.1	CCDS11527.1	17q21.32	2012-02-22	2005-12-22		2012-02-22	2005-12-22		ENSG00000173917	ENSG00000173917	ENSG00000173917	ENSG00000173917		"""Homeoboxes / ANTP class : HOXL subclass"""	"""Homeoboxes / ANTP class : HOXL subclass"""	5113	5113	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			142967	142967	"""homeo box B2"""	HOX2, HOX2H	"""homeo box B2"""	HOX2, HOX2H		1973146, 1358459	1973146, 1358459	Standard	Standard	XM_005257276	XM_005257276		Approved		uc002inm.3	uc002inm.3	P14652	P14652	OTTHUMG00000159930	OTTHUMG00000159930	ENST00000330070.4:c.1005T>C	17.37:g.46620496A>G			HOXB2_ENST00000504772.3_5'UTR	p.P335P	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN			2	2172	-			335		P10913|P17485	Silent	SNP	ENST00000330070.4	37	c.1005T>C	CCDS11527.1																																																																																									0.587	HOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358384.2		-68.455214	24	24	239	239			4	6.716725	6.716725	276	0.014286	0	0	0	1	0	4	276	0.014286
DHTKD1	55526	broad.mit.edu	37	10	12160871	12160871	+	Silent	SNP	G	G	A	rs143353830	byFrequency	TCGA-YZ-A984-01A-11D-A39W-08	TCGA-YZ-A984-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5de40e2-d2f6-4027-a8ad-f910915e22e7	5111a54d-a424-4c60-b712-670f14bb3450	g.chr10:12160871G>A	ENST00000263035.4	+	15	2588	c.2526G>A	c.(2524-2526)ccG>ccA	p.P842P	U6_ENST00000606801.1_RNA	NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	842					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			GCCCCTTCCCGTTGGATTCTT	0.443																																						ENST00000263035.4											0			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44						c.(2524-2526)ccG>ccA	dehydrogenase E1 and transketolase domain containing 1	G		3,4403	6.2+/-15.9	0,3,2200	144.0	140.0	142.0		2526	-10.1	0.0	10	dbSNP_134	142	0,8600		0,0,4300	no	coding-synonymous	DHTKD1	NM_018706.5		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		842/920	12160871	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	55526			glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:12160871G>A	BC002477	BC002477	CCDS7087.1	CCDS7087.1	10p14	2003-11-24			2003-11-24			ENSG00000181192	ENSG00000181192	ENSG00000181192	ENSG00000181192				23537	23537	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			614984	614984						10997877	10997877	Standard	Standard	NM_018706	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	uc001ild.5	Q96HY7	Q96HY7	OTTHUMG00000017677	OTTHUMG00000017677	ENST00000263035.4:c.2526G>A	10.37:g.12160871G>A				p.P842P	NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(52;0.188)		15	2588	+		Renal(717;0.228)	842		Q68CU5|Q9BUM8|Q9HCE2	Silent	SNP	ENST00000263035.4	37	c.2526G>A	CCDS7087.1																																																																																									0.443	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1		-19.194786	-11	-11	177	177	NM_018706		4	6.464803	6.464803	106	0.036364	0	0	0	1	0	4	106	0.036364
BAP1	8314	broad.mit.edu	37	3	52437899	52437899	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YZ-A984-01A-11D-A39W-08	TCGA-YZ-A984-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5de40e2-d2f6-4027-a8ad-f910915e22e7	5111a54d-a424-4c60-b712-670f14bb3450	g.chr3:52437899delT	ENST00000460680.1	-	13	1733	c.1262delA	c.(1261-1263)aagfs	p.K421fs	BAP1_ENST00000296288.5_Frame_Shift_Del_p.K403fs	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CCCTGTTCCCTTCCCCTTATA	0.557			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""																															GBM(101;493 1458 7992 21037 25532)	ENST00000460680.1		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	0			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180						c.(1261-1263)aagfs	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)						77.0	81.0	80.0					3																	52437899		2203	4300	6503	SO:0001589	frameshift_variant	8314			monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:52437899delT	AF045581	AF045581	CCDS2853.1	CCDS2853.1	3p21.31-p21.2	2014-09-17			2014-09-17			ENSG00000163930	ENSG00000163930	ENSG00000163930	ENSG00000163930				950	950	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603089	603089						9528852	9528852	Standard	Standard	NM_004656	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	uc003ddx.4	Q92560	Q92560	OTTHUMG00000158392	OTTHUMG00000158392	ENST00000460680.1:c.1262delA	3.37:g.52437899delT	ENSP00000417132:p.Lys421fs		BAP1_ENST00000296288.5_Frame_Shift_Del_p.K403fs	p.K421fs	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	13	1733	-			421		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Frame_Shift_Del	DEL	ENST00000460680.1	37	c.1262delA	CCDS2853.1																																																																																									0.557	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1	.	.	9	9	81	81			38			11	0.78						38	11	0.78
BAP1	8314	broad.mit.edu	37	3	52437898	52437899	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-YZ-A984-01A-11D-A39W-08	TCGA-YZ-A984-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5de40e2-d2f6-4027-a8ad-f910915e22e7	5111a54d-a424-4c60-b712-670f14bb3450	g.chr3:52437898_52437899delCT	ENST00000460680.1	-	13	1733_1734	c.1262_1263delAG	c.(1261-1263)aagfs	p.K421fs	BAP1_ENST00000296288.5_Frame_Shift_Del_p.K403fs	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		TCCCTGTTCCCTTCCCCTTATA	0.554			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""																															GBM(101;493 1458 7992 21037 25532)	ENST00000460680.1		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	0			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180						c.(1261-1263)aagfs	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)																																			SO:0001589	frameshift_variant	8314			anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	g.chr3:52437898_52437899delCT	AF045581	AF045581	CCDS2853.1	CCDS2853.1	3p21.31-p21.2	2014-09-17			2014-09-17			ENSG00000163930	ENSG00000163930	ENSG00000163930	ENSG00000163930				950	950	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603089	603089						9528852	9528852	Standard	Standard	NM_004656	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	uc003ddx.4	Q92560	Q92560	OTTHUMG00000158392	OTTHUMG00000158392	ENST00000460680.1:c.1262_1263delAG	3:g.52437898_52437899delCT	ENSP00000417132:p.Lys421fs		BAP1_ENST00000296288.5_Frame_Shift_Del_p.K403fs	p.K421fs	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	13	1733_1734	-			0		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Frame_Shift_Del	DEL	ENST00000460680.1		c.1262_1263delAG	CCDS2853.1																																																																																									0.554	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1	1.985000e+01	1.015700e+02	9	9	80	80			37			10	8.160000e-01						37	10	0.816
