#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
C6orf136	221545	broad.mit.edu	37	6	30618837	30618837	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	g.chr6:30618837G>T	ENST00000376473.5	+	3	700	c.541G>T	c.(541-543)Gag>Tag	p.E181*	C6orf136_ENST00000376471.4_Nonsense_Mutation_p.E47*|AL662800.2_ENST00000583820.1_RNA|C6orf136_ENST00000293604.6_Nonsense_Mutation_p.E362*|C6orf136_ENST00000528347.2_Nonsense_Mutation_p.E38*	NM_001109938.2	NP_001103408.1	Q5SQH8	CF136_HUMAN	chromosome 6 open reading frame 136	181						mitochondrion (GO:0005739)				endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						ATTCATCAATGAGATCCTCAA	0.488																																						ENST00000293604.6																			0				endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						c.(1084-1086)Gag>Tag		chromosome 6 open reading frame 136							120.0	109.0	113.0					6																	30618837		2203	4300	6503	SO:0001587	stop_gained	221545							g.chr6:30618837G>T	BC016167	CCDS4684.1, CCDS43443.1, CCDS4684.2, CCDS54979.1	6p21.32	2012-02-06			ENSG00000204564	ENSG00000204564			21301	protein-coding gene	gene with protein product							Standard	NM_001109938		Approved	Em:AB023049.8	uc003nqx.4	Q5SQH8	OTTHUMG00000031221	ENST00000376473.5:c.541G>T	6.37:g.30618837G>T	ENSP00000365656:p.Glu181*					C6orf136_ENST00000376471.4_Nonsense_Mutation_p.E47*|C6orf136_ENST00000376473.5_Nonsense_Mutation_p.E181*|C6orf136_ENST00000528347.2_Nonsense_Mutation_p.E38*	p.E362*	NM_001161376.1	NP_001154848.1	Q5SQH8	CF136_HUMAN			3	1277	+			181					A9R9P9|F8VX15|Q5SU01|Q6ZSB7|Q8TB84	Nonsense_Mutation	SNP	ENST00000376473.5	37	c.1084G>T	CCDS43443.1	.	.	.	.	.	.	.	.	.	.	G	37	6.159830	0.97334	.	.	ENSG00000204564	ENST00000293604;ENST00000376473;ENST00000376471;ENST00000446773;ENST00000528347;ENST00000465699	.	.	.	5.66	5.66	0.87406	.	0.104471	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-11.4294	16.6565	0.85230	0.0:0.0:1.0:0.0	.	.	.	.	X	362;181;47;299;38;3	.	ENSP00000293604:E362X	E	+	1	0	C6orf136	30726816	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.383000	0.59600	2.665000	0.90641	0.561000	0.74099	GAG		0.488	C6orf136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076457.4	NM_145029		4	93	1	0	1	1	1	4	93				
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	lincRNA	SNP	A	A	G	rs12107841	byFrequency	TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324									long intergenic non-protein coding RNA 969																		GATTGTGCCCAGCCTGTACGC	0.587																																						ENST00000445430.1																			0																																																			0							g.chr3:195400728A>G	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400728A>G														0	1324	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.587	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			5	62	0	0	0	1	0	5	62				
SEC14L1	6397	broad.mit.edu	37	17	75190803	75190803	+	Silent	SNP	A	A	G			TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	g.chr17:75190803A>G	ENST00000413679.2	+	7	822	c.519A>G	c.(517-519)gaA>gaG	p.E173E	SEC14L1_ENST00000591437.1_Silent_p.E139E|SEC14L1_ENST00000585618.1_Silent_p.E173E|SEC14L1_ENST00000443798.4_Silent_p.E173E|SEC14L1_ENST00000431431.2_Silent_p.E139E|SEC14L1_ENST00000392476.2_Silent_p.E173E|SEC14L1_ENST00000436233.4_Silent_p.E173E|SEC14L1_ENST00000430767.4_Silent_p.E173E	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	173	PRELI/MSF1. {ECO:0000255|PROSITE- ProRule:PRU00158}.				transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						TAGAAGAAGAAGGCATAACCT	0.423																																						ENST00000413679.2																			0				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						c.(517-519)gaA>gaG		SEC14-like 1 (S. cerevisiae)							106.0	98.0	101.0					17																	75190803		2203	4300	6503	SO:0001819	synonymous_variant	6397				transport	Golgi apparatus|integral to membrane	binding	g.chr17:75190803A>G	D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"""SEC14 (S. cerevisiae)-like 1"""	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		ENST00000413679.2:c.519A>G	17.37:g.75190803A>G						SEC14L1_ENST00000443798.4_Silent_p.E173E|SEC14L1_ENST00000591437.1_Silent_p.E139E|SEC14L1_ENST00000430767.4_Silent_p.E173E|SEC14L1_ENST00000436233.4_Silent_p.E173E|SEC14L1_ENST00000585618.1_Silent_p.E173E|SEC14L1_ENST00000392476.2_Silent_p.E173E|SEC14L1_ENST00000431431.2_Silent_p.E139E	p.E173E	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470.1|NP_001137471.1|NP_002994.3	Q92503	S14L1_HUMAN			7	822	+			173			PRELI/MSF1.		A8K4E8|B4DDI5|D5G3K1|Q99780	Silent	SNP	ENST00000413679.2	37	c.519A>G	CCDS11752.1																																																																																				0.423	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000436240.1	NM_003003		15	105	0	0	0	1	0	15	105				
CTPS2	56474	broad.mit.edu	37	X	16608918	16608918	+	Nonstop_Mutation	SNP	A	A	T			TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	g.chrX:16608918A>T	ENST00000443824.1	-	18	2502	c.1759T>A	c.(1759-1761)Tga>Aga	p.*587R	CTPS2_ENST00000359276.4_Nonstop_Mutation_p.*587R|CTPS2_ENST00000483053.1_5'UTR|CTPS2_ENST00000380241.3_Nonstop_Mutation_p.*587R	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2	0					'de novo' CTP biosynthetic process (GO:0044210)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP synthase activity (GO:0003883)			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					TATTCATTTCAGCTTATTTCC	0.413																																						ENST00000443824.1																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1759-1761)Tga>Aga		CTP synthase 2							158.0	133.0	142.0					X																	16608918		2203	4300	6503	SO:0001578	stop_lost	56474				glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity	g.chrX:16608918A>T	AF086422	CCDS14175.1	Xp22	2012-05-02	2012-05-02		ENSG00000047230	ENSG00000047230	6.3.4.2		2520	protein-coding gene	gene with protein product		300380	"""CTP synthase II"""			10899599	Standard	NM_001144002		Approved		uc004cxm.3	Q9NRF8	OTTHUMG00000021193	ENST00000443824.1:c.1759T>A	X.37:g.16608918A>T						CTPS2_ENST00000380241.3_Nonstop_Mutation_p.*587R|CTPS2_ENST00000359276.4_Nonstop_Mutation_p.*587R|CTPS2_ENST00000483053.1_5'UTR	p.*587R	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN			18	2502	-	Hepatocellular(33;0.0997)		0					B3KWM2|Q9BRI0|Q9H809|Q9H8K9	Nonstop_Mutation	SNP	ENST00000443824.1	37	c.1759T>A	CCDS14175.1	.	.	.	.	.	.	.	.	.	.	A	8.182	0.794143	0.16327	.	.	ENSG00000047230	ENST00000443824;ENST00000380241;ENST00000359276	.	.	.	5.26	4.1	0.47936	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5785	0.22581	0.8937:0.0:0.1063:0.0	.	.	.	.	R	587	.	.	X	-	1	0	CTPS2	16518839	0.991000	0.36638	0.004000	0.12327	0.152000	0.21847	4.567000	0.60850	0.824000	0.34613	0.486000	0.48141	TGA		0.413	CTPS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055906.1	NM_019857		15	36	0	0	0	1	0	15	36				
EHMT2	10919	broad.mit.edu	37	6	31848860	31848860	+	Silent	SNP	C	C	T			TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	g.chr6:31848860C>T	ENST00000375537.4	-	26	3213	c.3207G>A	c.(3205-3207)ggG>ggA	p.G1069G	EHMT2_ENST00000375528.4_Silent_p.G1092G|SLC44A4_ENST00000465707.1_5'Flank|EHMT2_ENST00000375530.4_Silent_p.G1035G|EHMT2_ENST00000480912.1_5'UTR|SLC44A4_ENST00000229729.6_5'Flank|EHMT2_ENST00000395728.3_Silent_p.G1126G|SLC44A4_ENST00000375562.4_5'Flank|EHMT2-AS1_ENST00000434689.1_RNA	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	1069	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						AGATCAGCTCCCCGACATACC	0.532																																						ENST00000395728.3																			0				central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						c.(3376-3378)ggG>ggA		euchromatic histone-lysine N-methyltransferase 2							118.0	105.0	110.0					6																	31848860		1511	2709	4220	SO:0001819	synonymous_variant	10919				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr6:31848860C>T	AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	14129	protein-coding gene	gene with protein product		604599	"""chromosome 6 open reading frame 30"", ""HLA-B associated transcript 8"""	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.3207G>A	6.37:g.31848860C>T						EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375530.4_Silent_p.G1035G|EHMT2_ENST00000375528.4_Silent_p.G1092G|EHMT2_ENST00000375537.4_Silent_p.G1069G	p.G1126G			Q96KQ7	EHMT2_HUMAN			25	3377	-			1069			SET.		B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Silent	SNP	ENST00000375537.4	37	c.3378G>A	CCDS4725.1																																																																																				0.532	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	NM_006709		21	60	0	0	0	1	0	21	60				
EMILIN1	11117	broad.mit.edu	37	2	27305238	27305238	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	g.chr2:27305238G>A	ENST00000380320.4	+	4	1298	c.799G>A	c.(799-801)Ggc>Agc	p.G267S		NM_007046.3	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	267					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCATCATGGCGGCAGCAGCAG	0.672																																						ENST00000380320.4																			0				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26						c.(799-801)Ggc>Agc		elastin microfibril interfacer 1							17.0	19.0	18.0					2																	27305238		2194	4279	6473	SO:0001583	missense	11117				cell adhesion	collagen		g.chr2:27305238G>A	AF088916	CCDS1733.1	2p23.3-p23.2	2008-02-05			ENSG00000138080	ENSG00000138080		"""EMI domain containing"""	19880	protein-coding gene	gene with protein product		130660					Standard	NM_007046		Approved	DKFZp586M121, gp115	uc002rii.4	Q9Y6C2	OTTHUMG00000097069	ENST00000380320.4:c.799G>A	2.37:g.27305238G>A	ENSP00000369677:p.Gly267Ser						p.G267S	NM_007046.3	NP_008977.1	Q9Y6C2	EMIL1_HUMAN			4	1298	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		267					A5PL03|H0Y7A0|Q53SY9|Q96G58|Q96IH6|Q9UG76	Missense_Mutation	SNP	ENST00000380320.4	37	c.799G>A	CCDS1733.1	.	.	.	.	.	.	.	.	.	.	G	5.408	0.260371	0.10239	.	.	ENSG00000138080	ENST00000380320	T	0.15834	2.39	4.81	2.88	0.33553	.	0.153445	0.40908	N	0.000994	T	0.07234	0.0183	N	0.14661	0.345	0.09310	N	1	B	0.18610	0.029	B	0.11329	0.006	T	0.36237	-0.9756	10	0.10902	T	0.67	-1.5621	4.6184	0.12438	0.198:0.1821:0.6199:0.0	.	267	Q9Y6C2	EMIL1_HUMAN	S	267	ENSP00000369677:G267S	ENSP00000369677:G267S	G	+	1	0	EMILIN1	27158742	0.306000	0.24490	0.004000	0.12327	0.004000	0.04260	0.406000	0.21032	1.026000	0.39733	-0.448000	0.05591	GGC		0.672	EMILIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214185.1	NM_007046		18	42	0	0	0	1	0	18	42				
EP400	57634	broad.mit.edu	37	12	132547138	132547138	+	Silent	SNP	A	A	G	rs111782215|rs561398509	byFrequency	TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	g.chr12:132547138A>G	ENST00000333577.4	+	48	8443	c.8334A>G	c.(8332-8334)caA>caG	p.Q2778Q	EP400_ENST00000389562.2_Silent_p.Q2741Q|EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000389561.2_Silent_p.Q2742Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2778	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2741Q(3)|p.Q2742Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcaacagcagcagc	0.602													G|||	74	0.0147764	0.028	0.0086	5008	,	,		14914	0.0079		0.0119	False		,,,				2504	0.0112					ENST00000333577.4																			4	Substitution - coding silent(4)	p.Q2741Q(3)|p.Q2742Q(1)	prostate(2)|endometrium(1)|kidney(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8332-8334)caA>caG		E1A binding protein p400							48.0	40.0	43.0					12																	132547138		2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547138A>G	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8334A>G	12.37:g.132547138A>G						EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000389561.2_Silent_p.Q2742Q|EP400_ENST00000389562.2_Silent_p.Q2741Q	p.Q2778Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8443	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2778			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8334A>G																																																																																					0.602	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		4	109	0	0	0	1	0	4	109				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	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_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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			8	38	0	0	0	1	0	8	38				
KIAA1549L	25758	broad.mit.edu	37	11	33628229	33628229	+	Missense_Mutation	SNP	A	A	G	rs377520713		TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	g.chr11:33628229A>G	ENST00000321505.4	+	13	4211	c.4031A>G	c.(4030-4032)aAc>aGc	p.N1344S	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.N1350S			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1344						integral component of membrane (GO:0016021)											CTATTTGACAACTCCAGCAAG	0.542																																						ENST00000321505.4																			0											c.(4030-4032)aAc>aGc		KIAA1549-like							68.0	73.0	72.0					11																	33628229		2040	4193	6233	SO:0001583	missense	25758							g.chr11:33628229A>G	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.4031A>G	11.37:g.33628229A>G	ENSP00000315295:p.Asn1344Ser					KIAA1549L_ENST00000389726.3_Missense_Mutation_p.N1350S	p.N1344S							13	4211	+								B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	c.4031A>G	CCDS44565.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.016|0.016	-1.517713|-1.517713	0.00975|0.00975	.|.	.|.	ENSG00000110427|ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000536568|ENST00000526400	.|.	.|.	.|.	5.43|5.43	-2.62|-2.62	0.06152|0.06152	.|.	0.739737|.	0.13682|.	N|.	0.370093|.	T|T	0.23249|0.23249	0.0562|0.0562	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B|.	0.14438|.	0.01|.	B|.	0.17098|.	0.017|.	T|T	0.23940|0.23940	-1.0174|-1.0174	9|5	0.07990|.	T|.	0.79|.	-4.7872|-4.7872	14.0139|14.0139	0.64513|0.64513	0.3783:0.0:0.6217:0.0|0.3783:0.0:0.6217:0.0	.|.	1350|.	E9PAT2|.	.|.	S|A	1344;1350;1183|742	.|.	ENSP00000315295:N1344S|.	N|T	+|+	2|1	0|0	C11orf41|C11orf41	33584805|33584805	0.024000|0.024000	0.19004|0.19004	0.382000|0.382000	0.26119|0.26119	0.298000|0.298000	0.27526|0.27526	0.175000|0.175000	0.16762|0.16762	-0.581000|-0.581000	0.05937|0.05937	-0.441000|-0.441000	0.05720|0.05720	AAC|ACT		0.542	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		15	34	0	0	0	1	0	15	34				
ZW10	9183	broad.mit.edu	37	11	113608372	113608372	+	Silent	SNP	C	C	A			TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	g.chr11:113608372C>A	ENST00000200135.3	-	14	2082	c.1938G>T	c.(1936-1938)gtG>gtT	p.V646V		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	646					ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic metaphase plate congression (GO:0007080)|mitotic sister chromatid segregation (GO:0000070)|protein complex assembly (GO:0006461)|protein localization to kinetochore (GO:0034501)|protein transport (GO:0015031)|regulation of exit from mitosis (GO:0007096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|nucleus (GO:0005634)|spindle pole (GO:0000922)	centromeric DNA binding (GO:0019237)	p.V646V(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		AATATATATTCACTGGCAGGA	0.418																																						ENST00000200135.3																			1	Substitution - coding silent(1)	p.V646V(1)	lung(1)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18						c.(1936-1938)gtG>gtT		zw10 kinetochore protein							138.0	128.0	132.0					11																	113608372		2201	4296	6497	SO:0001819	synonymous_variant	9183				cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding	g.chr11:113608372C>A	U54996	CCDS8363.1	11q23	2013-01-17	2012-12-13		ENSG00000086827	ENSG00000086827			13194	protein-coding gene	gene with protein product		603954	"""ZW10 (Drosophila) homolog, centromere/kinetochore protein"", ""ZW10, kinetochore associated, homolog (Drosophila)"""			9298984	Standard	NM_004724		Approved	KNTC1AP	uc001poe.3	O43264	OTTHUMG00000168190	ENST00000200135.3:c.1938G>T	11.37:g.113608372C>A							p.V646V	NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)	14	2082	-		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)	646					A1A528	Silent	SNP	ENST00000200135.3	37	c.1938G>T	CCDS8363.1																																																																																				0.418	ZW10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398700.1	NM_004724		72	33	1	0	1.49723e-40	1	1.7014e-40	72	33				
SSPO	23145	broad.mit.edu	37	7	149530949	149530949	+	RNA	SNP	C	C	T			TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	g.chr7:149530949C>T	ENST00000378016.2	+	0	15478							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CACAGCTGTCCCTCTTGTGAT	0.577																																						ENST00000378016.2																			0													SCO-spondin							70.0	74.0	73.0					7																	149530949		2079	4205	6284			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149530949C>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149530949C>T										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	15478	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.577	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				19	27	0	0	0	1	0	19	27				
SNX14	57231	broad.mit.edu	37	6	86237978	86237978	+	Splice_Site	SNP	A	A	G			TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	g.chr6:86237978A>G	ENST00000314673.3	-	20	2172		c.e20+1		SNX14_ENST00000508980.1_Splice_Site|SNX14_ENST00000505648.1_Splice_Site|SNX14_ENST00000369627.2_Splice_Site|SNX14_ENST00000346348.3_Splice_Site|SNX14_ENST00000513865.1_Intron	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14						protein transport (GO:0015031)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)	phosphatidylinositol binding (GO:0035091)			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		TTGATGTTATACCTGTAGATA	0.343																																						ENST00000314673.3																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22						c.e20+1		sorting nexin 14							168.0	185.0	179.0					6																	86237978		2203	4299	6502	SO:0001630	splice_region_variant	57231				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity	g.chr6:86237978A>G	AF121863	CCDS5003.1, CCDS5004.1, CCDS75490.1	6q15	2008-10-22			ENSG00000135317	ENSG00000135317		"""Sorting nexins"""	14977	protein-coding gene	gene with protein product						11485546, 11736640	Standard	XM_005248738		Approved	RGS-PX2	uc003pkr.3	Q9Y5W7	OTTHUMG00000015140	ENST00000314673.3:c.1995+1T>C	6.37:g.86237978A>G						SNX14_ENST00000346348.3_Splice_Site|SNX14_ENST00000513865.1_Intron|SNX14_ENST00000508980.1_Splice_Site|SNX14_ENST00000505648.1_Splice_Site|SNX14_ENST00000369627.2_Splice_Site		NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0423)	20	2172	-		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)						B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	Splice_Site	SNP	ENST00000314673.3	37		CCDS5004.1	.	.	.	.	.	.	.	.	.	.	A	19.21	3.782995	0.70222	.	.	ENSG00000135317	ENST00000346348;ENST00000369628;ENST00000314673;ENST00000505648;ENST00000369627;ENST00000515216;ENST00000418862	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7838	0.78286	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SNX14	86294697	1.000000	0.71417	0.998000	0.56505	0.870000	0.49936	8.681000	0.91228	2.133000	0.65898	0.477000	0.44152	.		0.343	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041393.2	NM_153816	Intron	7	70	0	0	0	1	0	7	70				
PDE3A	5139	broad.mit.edu	37	12	20786709	20786709	+	Missense_Mutation	SNP	A	A	G	rs113434458		TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	g.chr12:20786709A>G	ENST00000359062.3	+	7	1883	c.1843A>G	c.(1843-1845)Aca>Gca	p.T615A	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	615					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	ACCAAGTAGAACAGGTAATTC	0.413																																						ENST00000359062.3																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58						c.(1843-1845)Aca>Gca		phosphodiesterase 3A, cGMP-inhibited	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						65.0	61.0	63.0					12																	20786709		2203	4300	6503	SO:0001583	missense	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20786709A>G		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.1843A>G	12.37:g.20786709A>G	ENSP00000351957:p.Thr615Ala					PDE3A_ENST00000544307.1_3'UTR	p.T615A	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN			7	1883	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	615					O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	c.1843A>G	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	A	11.17	1.559680	0.27827	.	.	ENSG00000172572	ENST00000359062	T	0.61742	0.08	5.89	2.28	0.28536	.	1.738910	0.02354	N	0.076265	T	0.48995	0.1531	L	0.38838	1.175	0.32392	N	0.553115	B	0.02656	0.0	B	0.01281	0.0	T	0.30995	-0.9959	10	0.20519	T	0.43	.	8.4197	0.32692	0.7815:0.0:0.2185:0.0	.	615	Q14432	PDE3A_HUMAN	A	615	ENSP00000351957:T615A	ENSP00000351957:T615A	T	+	1	0	PDE3A	20677976	1.000000	0.71417	0.993000	0.49108	0.828000	0.46876	1.252000	0.32874	0.153000	0.19213	0.528000	0.53228	ACA		0.413	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			12	28	0	0	0	1	0	12	28				
HSPB8	26353	broad.mit.edu	37	12	119617317	119617317	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	g.chr12:119617317G>A	ENST00000281938.2	+	1	871	c.200G>A	c.(199-201)gGc>gAc	p.G67D	RP11-64B16.4_ENST00000535921.1_RNA	NM_014365.2	NP_055180.1	Q9UJY1	HSPB8_HUMAN	heat shock 22kDa protein 8	67			G -> S (in a glioblastoma multiforme sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		cell death (GO:0008219)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	14	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTAAGGTCGGGCATGGTGCCC	0.692																																						ENST00000281938.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	14						c.(199-201)gGc>gAc		heat shock 22kDa protein 8							41.0	47.0	45.0					12																	119617317		2203	4300	6503	SO:0001583	missense	26353				cell death|response to heat	cytoplasm|nucleus	identical protein binding|protein serine/threonine kinase activity	g.chr12:119617317G>A	AF191017	CCDS9189.1	12q24.23	2014-09-17	2004-04-23					"""Heat shock proteins / HSPB"""	30171	protein-coding gene	gene with protein product		608014	"""heat shock 27kDa protein 8"""			10833516, 11085516	Standard	NM_014365		Approved	H11, E2IG1, HSP22, HspB8	uc001txb.3	Q9UJY1		ENST00000281938.2:c.200G>A	12.37:g.119617317G>A	ENSP00000281938:p.Gly67Asp						p.G67D	NM_014365.2	NP_055180.1	Q9UJY1	HSPB8_HUMAN			1	871	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		67		G -> S (in a glioblastoma multiforme sample; somatic mutation).			B2R6A6|Q6FIH3|Q9UKS3	Missense_Mutation	SNP	ENST00000281938.2	37	c.200G>A	CCDS9189.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.946733	0.53186	.	.	ENSG00000152137	ENST00000281938	D	0.87179	-2.22	4.42	3.51	0.40186	.	0.804884	0.11094	N	0.600444	D	0.91540	0.7328	L	0.53249	1.67	0.53005	D	0.999967	D	0.89917	1.0	D	0.87578	0.998	D	0.87864	0.2666	9	.	.	.	.	13.6963	0.62582	0.0:0.0:0.8445:0.1555	.	67	Q9UJY1	HSPB8_HUMAN	D	67	ENSP00000281938:G67D	.	G	+	2	0	HSPB8	118101700	1.000000	0.71417	0.980000	0.43619	0.198000	0.23893	6.901000	0.75693	1.062000	0.40625	-0.311000	0.09066	GGC		0.692	HSPB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401647.1	NM_014365		4	121	0	0	0	1	0	4	121				
SDHAP3	728609	broad.mit.edu	37	5	1593261	1593261	+	lincRNA	SNP	A	A	T			TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	g.chr5:1593261A>T	ENST00000605200.1	+	0	0				SDHAP3_ENST00000436493.2_RNA																							CTCAGGGCACATGCCTGACCA	0.542																																						ENST00000436493.2																			0																																																			0							g.chr5:1593261A>T																													5.37:g.1593261A>T														0	364	-									RNA	SNP	ENST00000605200.1	37																																																																																						0.542	CTD-2012J19.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469651.1			4	65	0	0	0	1	0	4	65				
FSD1	79187	broad.mit.edu	37	19	4310577	4310577	+	Silent	SNP	A	A	G			TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	g.chr19:4310577A>G	ENST00000221856.6	+	6	621	c.474A>G	c.(472-474)gcA>gcG	p.A158A	FSD1_ENST00000598010.1_3'UTR|FSD1_ENST00000597590.1_Silent_p.A158A	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing 1	158	COS. {ECO:0000255|PROSITE- ProRule:PRU00586}.				mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCTACAGGCACTCAAGTTCC	0.587																																						ENST00000221856.6																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(472-474)gcA>gcG		fibronectin type III and SPRY domain containing 1							73.0	63.0	66.0					19																	4310577		2203	4300	6503	SO:0001819	synonymous_variant	79187				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus		g.chr19:4310577A>G	AF316829	CCDS12127.1	19p13.3	2013-02-11	2005-03-01			ENSG00000105255		"""Fibronectin type III domain containing"""	13745	protein-coding gene	gene with protein product		609828	"""fibronectin type 3 and SPRY domain containing 1"""			11267680	Standard	NM_024333		Approved	MGC3213, MIR1	uc002lzy.2	Q9BTV5		ENST00000221856.6:c.474A>G	19.37:g.4310577A>G						FSD1_ENST00000597590.1_Silent_p.A158A|FSD1_ENST00000598010.1_3'UTR	p.A158A	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)	6	621	+			158			COS.		B2RDT0|Q9BXN0|Q9HAG4	Silent	SNP	ENST00000221856.6	37	c.474A>G	CCDS12127.1																																																																																				0.587	FSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458091.1	NM_024333		37	74	0	0	0	1	0	37	74				
CIC	23152	broad.mit.edu	37	19	42799051	42799051	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	g.chr19:42799051G>A	ENST00000575354.2	+	20	4575	c.4535G>A	c.(4534-4536)cGt>cAt	p.R1512H	CIC_ENST00000572681.2_Missense_Mutation_p.R2418H|CIC_ENST00000160740.3_Missense_Mutation_p.R1510H	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1512					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TTGAAGATCCGTGAGGTGCGC	0.627			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(7252-7254)cGt>cAt		capicua transcriptional repressor							51.0	51.0	51.0					19																	42799051		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42799051G>A	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.4535G>A	19.37:g.42799051G>A	ENSP00000458663:p.Arg1512His					CIC_ENST00000160740.3_Missense_Mutation_p.R1510H|CIC_ENST00000575354.2_Missense_Mutation_p.R1512H	p.R2418H			Q96RK0	CIC_HUMAN			21	7321	+		Prostate(69;0.00682)	1512					Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.7253G>A	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.529376	0.85706	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.49	4.49	0.54785	.	.	.	.	.	T	0.65037	0.2653	L	0.29908	0.895	0.47009	D	0.999284	D	0.76494	0.999	D	0.74674	0.984	T	0.68911	-0.5284	8	0.87932	D	0	-6.0224	15.0527	0.71888	0.0:0.0:1.0:0.0	.	1512	Q96RK0	CIC_HUMAN	H	1512	.	ENSP00000160740:R1512H	R	+	2	0	CIC	47490891	1.000000	0.71417	0.993000	0.49108	0.974000	0.67602	8.215000	0.89762	2.513000	0.84729	0.491000	0.48974	CGT		0.627	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			34	38	0	0	0	1	0	34	38				
CRACR2A	84766	broad.mit.edu	37	12	3788091	3788091	+	Missense_Mutation	SNP	C	C	T	rs199641669		TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	g.chr12:3788091C>T	ENST00000252322.1	-	6	982	c.514G>A	c.(514-516)Gtg>Atg	p.V172M	EFCAB4B_ENST00000440314.2_Missense_Mutation_p.V172M|EFCAB4B_ENST00000444507.1_Missense_Mutation_p.V172M	NM_032680.3	NP_116069.1	Q9BSW2	EFC4B_HUMAN		172					activation of store-operated calcium channel activity (GO:0032237)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|store-operated calcium entry (GO:0002115)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			TCTTCCAACACCTTTTGGGCT	0.498																																						ENST00000440314.2																			0				breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(514-516)Gtg>Atg		EF-hand calcium binding domain 4B							193.0	157.0	169.0					12																	3788091		2203	4300	6503	SO:0001583	missense	84766				activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding	g.chr12:3788091C>T																												ENST00000252322.1:c.514G>A	12.37:g.3788091C>T	ENSP00000252322:p.Val172Met					EFCAB4B_ENST00000252322.1_Missense_Mutation_p.V172M|EFCAB4B_ENST00000444507.1_Missense_Mutation_p.V172M	p.V172M	NM_001144958.1	NP_001138430.1	Q9BSW2	EFC4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)		6	987	-			172					B4E1X0|B9EK63	Missense_Mutation	SNP	ENST00000252322.1	37	c.514G>A	CCDS8522.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.591564	0.66219	.	.	ENSG00000130038	ENST00000440314;ENST00000444507;ENST00000252322	T;T;T	0.64618	-0.11;2.34;2.34	4.9	3.01	0.34805	.	0.207689	0.42053	D	0.000763	T	0.75206	0.3818	M	0.83012	2.62	0.31154	N	0.705092	D;D;P	0.76494	0.999;0.985;0.933	D;P;P	0.63877	0.919;0.891;0.564	T	0.76198	-0.3047	10	0.72032	D	0.01	-8.8078	8.3917	0.32533	0.0:0.8058:0.0:0.1942	.	172;172;172	D7UEQ6;Q9BSW2-2;Q9BSW2	.;.;EFC4B_HUMAN	M	172	ENSP00000409382:V172M;ENSP00000412496:V172M;ENSP00000252322:V172M	ENSP00000252322:V172M	V	-	1	0	EFCAB4B	3658352	0.285000	0.24296	0.952000	0.39060	0.963000	0.63663	0.699000	0.25586	1.023000	0.39654	0.561000	0.74099	GTG		0.498	EFCAB4B-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398673.1			6	109	0	0	0	1	0	6	109				
KRTAP4-2	85291	broad.mit.edu	37	17	39334308	39334308	+	Missense_Mutation	SNP	G	G	A	rs368267744		TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	g.chr17:39334308G>A	ENST00000377726.2	-	1	152	c.109C>T	c.(109-111)Cgc>Tgc	p.R37C		NM_033062.3	NP_149051	Q9BYR5	KRA42_HUMAN	keratin associated protein 4-2	37	20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].					keratin filament (GO:0045095)				kidney(2)|lung(4)|upper_aerodigestive_tract(1)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			CAGCTGGGGCGGCAGCAGGTG	0.657																																						ENST00000377726.2																			0				kidney(2)|lung(4)|upper_aerodigestive_tract(1)	7						c.(109-111)Cgc>Tgc		keratin associated protein 4-2		G	CYS/ARG	1,4399		0,1,2199	44.0	48.0	47.0		109	3.3	0.8	17		47	1,8575		0,1,4287	no	missense	KRTAP4-2	NM_033062.3	180	0,2,6486	AA,AG,GG		0.0117,0.0227,0.0154	benign	37/137	39334308	2,12974	2200	4288	6488	SO:0001583	missense	85291					keratin filament		g.chr17:39334308G>A	AJ406934	CCDS11384.1	17q21.2	2013-06-25			ENSG00000244537	ENSG00000244537		"""Keratin associated proteins"""	18900	protein-coding gene	gene with protein product						11279113	Standard	NM_033062		Approved	KAP4.2	uc002hwd.3	Q9BYR5	OTTHUMG00000133437	ENST00000377726.2:c.109C>T	17.37:g.39334308G>A	ENSP00000366955:p.Arg37Cys						p.R37C	NM_033062.3	NP_149051.1	Q9BYR5	KRA42_HUMAN	STAD - Stomach adenocarcinoma(17;0.000449)		1	152	-		Breast(137;0.000496)	37			20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].		A0JP64	Missense_Mutation	SNP	ENST00000377726.2	37	c.109C>T	CCDS11384.1	.	.	.	.	.	.	.	.	.	.	.	9.515	1.106870	0.20714	2.27E-4	1.17E-4	ENSG00000244537	ENST00000377726;ENST00000458321	T	0.01446	4.88	4.35	3.35	0.38373	.	1.979650	0.04141	U	0.319522	T	0.05090	0.0136	M	0.80982	2.52	0.27001	N	0.964911	B	0.17465	0.022	B	0.16722	0.016	T	0.45279	-0.9272	10	0.54805	T	0.06	.	9.5872	0.39524	0.0:0.0:0.584:0.416	.	37	Q9BYR5	KRA42_HUMAN	C	37;154	ENSP00000366955:R37C	ENSP00000366955:R37C	R	-	1	0	KRTAP4-2	36587834	0.004000	0.15560	0.828000	0.32881	0.092000	0.18411	-0.050000	0.11904	0.858000	0.35431	0.514000	0.50259	CGC		0.657	KRTAP4-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257305.1			5	208	0	0	0	1	0	5	208				
PDE6B	5158	broad.mit.edu	37	4	663881	663881	+	Silent	SNP	C	C	A			TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	g.chr4:663881C>A	ENST00000496514.1	+	22	2571	c.2550C>A	c.(2548-2550)acC>acA	p.T850T	PDE6B_ENST00000429163.2_Silent_p.T571T|PDE6B_ENST00000255622.6_Silent_p.T849T|ATP5I_ENST00000506525.1_5'Flank			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	850					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	AGTCTTCAACCTGCTGTATCC	0.532																																					GBM(71;463 1194 9848 25922 46834)	ENST00000255622.6																			0				NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						c.(2545-2547)acC>acA		phosphodiesterase 6B, cGMP-specific, rod, beta							163.0	161.0	162.0					4																	663881		2203	4300	6503	SO:0001819	synonymous_variant	5158				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr4:663881C>A	BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"""Phosphodiesterases"""	8786	protein-coding gene	gene with protein product	"""congenital stationary night blindness 3, autosomal dominant"""	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.2550C>A	4.37:g.663881C>A						PDE6B_ENST00000496514.1_Silent_p.T850T|PDE6B_ENST00000429163.2_Silent_p.T571T	p.T849T	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN			22	2590	+			850					B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Silent	SNP	ENST00000496514.1	37	c.2547C>A	CCDS33932.1																																																																																				0.532	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358109.1	NM_000283		38	112	1	0	4.92203e-23	1	5.35003e-23	38	112				
FBXO11	80204	broad.mit.edu	37	2	48035296	48035297	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	g.chr2:48035296_48035297delAG	ENST00000403359.3	-	23	2816_2817	c.2744_2745delCT	c.(2743-2745)tctfs	p.S915fs	FBXO11_ENST00000434523.2_Frame_Shift_Del_p.S339fs|MSH6_ENST00000234420.5_3'UTR|FBXO11_ENST00000405808.1_Intron|FBXO11_ENST00000402508.1_Frame_Shift_Del_p.S831fs|FBXO11_ENST00000316377.4_Frame_Shift_Del_p.S831fs	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	915					cellular protein modification process (GO:0006464)|peptidyl-arginine N-methylation (GO:0035246)|protein ubiquitination (GO:0016567)|sensory perception of sound (GO:0007605)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	protein-arginine N-methyltransferase activity (GO:0016274)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TAGGTGGAGCAGAGTCATATAG	0.381			"""Mis, F, D"""		DLBCL																																	ENST00000403359.3				Rec	yes		2	2p16.3	80204	"""Mis, F, D"""	F-box protein 11			L			DLBCL		2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(2743-2745)tfs		F-box protein 11																																				SO:0001589	frameshift_variant	80204				ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:48035296_48035297delAG	AF174599	CCDS1837.1, CCDS54357.1	2p16.3	2014-01-29	2008-06-23	2008-06-23	ENSG00000138081	ENSG00000138081		"""Ubiquitin protein ligase E3 component n-recognins"", ""F-boxes /  ""other"""""	13590	protein-coding gene	gene with protein product	"""ubiquitin protein ligase E3 component n-recognin 6"""	607871	"""F-box only protein 11"""			10531035, 16487488, 18162545	Standard	NM_025133		Approved	FBX11, UBR6	uc002rwe.3	Q86XK2	OTTHUMG00000129130	ENST00000403359.3:c.2744_2745delCT	2.37:g.48035298_48035299delAG	ENSP00000384823:p.Ser915fs					FBXO11_ENST00000316377.4_Frame_Shift_Del_p.S831fs|FBXO11_ENST00000434523.2_Frame_Shift_Del_p.S339fs|FBXO11_ENST00000405808.1_Intron|FBXO11_ENST00000402508.1_Frame_Shift_Del_p.S831fs	p.S915fs	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		23	2816_2817	-		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	915					A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	Frame_Shift_Del	DEL	ENST00000403359.3	37	c.2744_2745delCT	CCDS54357.1																																																																																				0.381	FBXO11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251181.3	NM_012167, NM_018693, NM_025133		12	139						12	139	---	---	---	---
EIF4E2P2	645207	broad.mit.edu	37	3	114998227	114998227	+	lincRNA	DEL	G	G	-			TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	g.chr3:114998227delG	ENST00000459855.1	+	0	338																											CAAACAGATTGGCACCTTTGC	0.478																																						ENST00000459855.1																			0																																																			0							g.chr3:114998227delG																													3.37:g.114998227delG														0	338	+									RNA	DEL	ENST00000459855.1	37																																																																																						0.478	RP11-190P13.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000354479.1			2	4						2	4	---	---	---	---
SERAC1	84947	broad.mit.edu	37	6	158537270	158537270	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	g.chr6:158537270delC	ENST00000367104.3	-	14	1579	c.1448delG	c.(1447-1449)agafs	p.R483fs	SERAC1_ENST00000367101.1_Frame_Shift_Del_p.E498fs|SERAC1_ENST00000367102.2_Frame_Shift_Del_p.E498fs	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1	483					extracellular matrix organization (GO:0030198)|GPI anchor metabolic process (GO:0006505)|intracellular protein transport (GO:0006886)|phospholipid biosynthetic process (GO:0008654)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		ACCAGCAGCTCTGAGCTTCCT	0.448																																						ENST00000367102.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(1492-1494)agfs		serine active site containing 1							145.0	111.0	123.0					6																	158537270		2203	4300	6503	SO:0001589	frameshift_variant	84947				GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds	g.chr6:158537270delC	BC001705	CCDS5255.1	6q25.3	2003-05-12			ENSG00000122335	ENSG00000122335			21061	protein-coding gene	gene with protein product		614725					Standard	NM_032861		Approved	FLJ14917	uc003qrc.2	Q96JX3	OTTHUMG00000015905	ENST00000367104.3:c.1448delG	6.37:g.158537270delC	ENSP00000356071:p.Arg483fs					SERAC1_ENST00000367104.3_Frame_Shift_Del_p.R483fs|SERAC1_ENST00000367101.1_Frame_Shift_Del_p.E498fs	p.E498fs			Q96JX3	SRAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)	15	1633	-		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)	0					Q49AT1|Q5VTX3|Q6PKF3	Frame_Shift_Del	DEL	ENST00000367104.3	37	c.1492delG	CCDS5255.1																																																																																				0.448	SERAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042862.1	NM_032861		25	39						25	39	---	---	---	---
TRDV2	28517	broad.mit.edu	37	14	22892201	22892202	+	RNA	INS	-	-	A	rs571556949		TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	g.chr14:22892201_22892202insA	ENST00000390469.2	+	0	520				AE000661.37_ENST00000535351.1_RNA|AE000661.37_ENST00000537850.1_RNA|AE000661.37_ENST00000545670.1_RNA|AE000661.37_ENST00000541008.1_RNA|AE000661.37_ENST00000514473.2_RNA					T cell receptor delta variable 2																		actaaaaatacaaaaaaaaaaa	0.545																																						ENST00000514473.2																			0																																																			0							g.chr14:22892201_22892202insA	X15207		14q11.2	2012-02-07			ENSG00000211821	ENSG00000211821		"""T cell receptors / TRD locus"""	12263	other	T cell receptor gene						2526321	Standard	NG_001332		Approved	hDV102S1, MGC117421			OTTHUMG00000170843		14.37:g.22892212_22892212dupA						AE000661.37_ENST00000541008.1_RNA|AE000661.37_ENST00000535351.1_RNA|AE000661.37_ENST00000545670.1_RNA|AE000661.37_ENST00000537850.1_RNA								0	225	-									RNA	INS	ENST00000390469.2	37																																																																																						0.545	TRDV2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000410669.1	NG_001332		2	4						2	4	---	---	---	---
