#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
MYT1	4661	broad.mit.edu	37	20	62854521	62854521	+	Silent	SNP	C	C	T			TCGA-RT-A6YC-01A-12D-A35D-08	TCGA-RT-A6YC-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583d10a7-9d12-45d1-861b-5c2231935b2e	7a23bba7-57b3-4705-aeb3-f0fbdd7b3f19	g.chr20:62854521C>T	ENST00000328439.1	+	15	2818	c.2454C>T	c.(2452-2454)caC>caT	p.H818H	MYT1_ENST00000360149.4_Silent_p.H520H|MYT1_ENST00000536311.1_Silent_p.H845H	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					ACGCCTCCCACCGCAGGTTTG	0.612																																					GBM(59;481 1041 20555 21139 33705)	ENST00000536311.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(2533-2535)caC>caT		myelin transcription factor 1							170.0	165.0	167.0					20																	62854521		2203	4300	6503	SO:0001819	synonymous_variant	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62854521C>T	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.2454C>T	20.37:g.62854521C>T						MYT1_ENST00000360149.4_Silent_p.H520H|MYT1_ENST00000328439.1_Silent_p.H818H	p.H845H			Q01538	MYT1_HUMAN			15	2899	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		818					B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Silent	SNP	ENST00000328439.1	37	c.2535C>T	CCDS13558.1																																																																																				0.612	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		4	122	0	0	0	1	0	4	122				
NFYB	4801	broad.mit.edu	37	12	104517193	104517193	+	Silent	SNP	T	T	C			TCGA-RT-A6YC-01A-12D-A35D-08	TCGA-RT-A6YC-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583d10a7-9d12-45d1-861b-5c2231935b2e	7a23bba7-57b3-4705-aeb3-f0fbdd7b3f19	g.chr12:104517193T>C	ENST00000240055.3	-	5	467	c.240A>G	c.(238-240)aaA>aaG	p.K80K	NFYB_ENST00000551727.1_Silent_p.K80K|RNA5SP370_ENST00000362545.1_RNA	NM_006166.3	NP_006157.1	P25208	NFYB_HUMAN	nuclear transcription factor Y, beta	80	B domain.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			large_intestine(1)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	6						CTTTGGCATCTTTTGCAATCT	0.348																																						ENST00000240055.3																			0				large_intestine(1)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(238-240)aaA>aaG		nuclear transcription factor Y, beta							81.0	76.0	78.0					12																	104517193		2202	4300	6502	SO:0001819	synonymous_variant	4801					CCAAT-binding factor complex	repressing transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:104517193T>C		CCDS9098.1	12q22-q23	2008-11-11				ENSG00000120837			7805	protein-coding gene	gene with protein product		189904				1774067, 9612081	Standard	NM_006166		Approved	CBF-A, HAP3, NF-YB	uc001tkl.1	P25208	OTTHUMG00000170176	ENST00000240055.3:c.240A>G	12.37:g.104517193T>C						NFYB_ENST00000551727.1_Silent_p.K80K	p.K80K	NM_006166.3	NP_006157.1	P25208	NFYB_HUMAN			5	467	-			80			B domain.		A8K7B9|Q96IY8	Silent	SNP	ENST00000240055.3	37	c.240A>G	CCDS9098.1																																																																																				0.348	NFYB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407786.1			3	27	0	0	0	1	0	3	27				
LOC101927648	101927648	broad.mit.edu	37	1	143403563	143403563	+	lincRNA	SNP	C	C	A	rs376564211		TCGA-RT-A6YC-01A-12D-A35D-08	TCGA-RT-A6YC-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583d10a7-9d12-45d1-861b-5c2231935b2e	7a23bba7-57b3-4705-aeb3-f0fbdd7b3f19	g.chr1:143403563C>A	ENST00000423249.1	-	0	59																											TTTCTTTGGCCACTTTGGCTG	0.453																																						ENST00000423249.1																			0																																																			101927648							g.chr1:143403563C>A																													1.37:g.143403563C>A														0	59	-									RNA	SNP	ENST00000423249.1	37																																																																																						0.453	RP11-435B5.4-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	lincRNA	OTTHUMT00000037552.1			3	9	1	0	0.00909568	1	0.00909568	3	9				
KRTAP4-9	100132386	broad.mit.edu	37	17	39261693	39261693	+	Missense_Mutation	SNP	A	A	T	rs113059833		TCGA-RT-A6YC-01A-12D-A35D-08	TCGA-RT-A6YC-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583d10a7-9d12-45d1-861b-5c2231935b2e	7a23bba7-57b3-4705-aeb3-f0fbdd7b3f19	g.chr17:39261693A>T	ENST00000391415.1	+	1	110	c.53A>T	c.(52-54)gAc>gTc	p.D18V		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	18					aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.D18V(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGCGGCCAAGACCTCTGTCAG	0.627																																						ENST00000391415.1																			1	Substitution - Missense(1)	p.D18V(1)	endometrium(1)	central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						c.(52-54)gAc>gTc		keratin associated protein 4-9							18.0	22.0	21.0					17																	39261693		692	1590	2282	SO:0001583	missense	100132386					keratin filament		g.chr17:39261693A>T	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"""Keratin associated proteins"""	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.53A>T	17.37:g.39261693A>T	ENSP00000375234:p.Asp18Val						p.D18V	NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN			1	110	+			18						Missense_Mutation	SNP	ENST00000391415.1	37	c.53A>T	CCDS54124.1	.	.	.	.	.	.	.	.	.	.	.	6.082	0.383461	0.11524	.	.	ENSG00000212722	ENST00000391415;ENST00000333994	T	0.32272	1.46	2.51	0.174	0.15040	.	.	.	.	.	T	0.25865	0.0630	M	0.64404	1.975	0.30580	P	0.762648	B	0.17852	0.024	B	0.14023	0.01	T	0.23154	-1.0196	8	0.45353	T	0.12	.	3.5681	0.07907	0.2702:0.2037:0.5261:0.0	.	18	Q9BYQ8	KRA49_HUMAN	V	18	ENSP00000375234:D18V	ENSP00000334461:D18V	D	+	2	0	KRTAP4-9	36515219	0.000000	0.05858	0.388000	0.26195	0.320000	0.28249	0.098000	0.15189	-0.245000	0.09625	0.155000	0.16302	GAC		0.627	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		6	17	0	0	0	1	0	6	17				
EVPL	2125	broad.mit.edu	37	17	74005061	74005061	+	Missense_Mutation	SNP	C	C	T	rs376290291		TCGA-RT-A6YC-01A-12D-A35D-08	TCGA-RT-A6YC-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583d10a7-9d12-45d1-861b-5c2231935b2e	7a23bba7-57b3-4705-aeb3-f0fbdd7b3f19	g.chr17:74005061C>T	ENST00000301607.3	-	22	4478	c.4225G>A	c.(4225-4227)Gtg>Atg	p.V1409M	TEN1-CDK3_ENST00000567351.1_RNA|EVPL_ENST00000586740.1_Missense_Mutation_p.V1431M	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1409	Central fibrous rod domain.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						AGCTGCTGCACCTCAAGCTCT	0.701																																						ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(4225-4227)Gtg>Atg		envoplakin		C	MET/VAL	1,4399		0,1,2199	37.0	43.0	41.0		4225	5.6	1.0	17		41	0,8590		0,0,4295	no	missense	EVPL	NM_001988.2	21	0,1,6494	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	1409/2034	74005061	1,12989	2200	4295	6495	SO:0001583	missense	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74005061C>T	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.4225G>A	17.37:g.74005061C>T	ENSP00000301607:p.Val1409Met					EVPL_ENST00000586740.1_Missense_Mutation_p.V1431M	p.V1409M	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			22	4478	-			1409			Central fibrous rod domain.		A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	c.4225G>A	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344919	0.61073	2.27E-4	0.0	ENSG00000167880	ENST00000301607	T	0.58940	0.3	5.55	5.55	0.83447	.	0.158034	0.41823	D	0.000814	T	0.75664	0.3880	M	0.74258	2.255	0.39335	D	0.965485	D;D	0.64830	0.994;0.981	D;P	0.63703	0.917;0.77	T	0.77427	-0.2592	10	0.52906	T	0.07	-42.6948	19.5008	0.95093	0.0:1.0:0.0:0.0	.	1431;1409	B7ZLH8;Q92817	.;EVPL_HUMAN	M	1409	ENSP00000301607:V1409M	ENSP00000301607:V1409M	V	-	1	0	EVPL	71516656	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.583000	0.46094	2.620000	0.88729	0.655000	0.94253	GTG		0.701	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		18	36	0	0	0	1	0	18	36				
SACM1L	22908	broad.mit.edu	37	3	45748365	45748365	+	Missense_Mutation	SNP	A	A	G			TCGA-RT-A6YC-01A-12D-A35D-08	TCGA-RT-A6YC-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583d10a7-9d12-45d1-861b-5c2231935b2e	7a23bba7-57b3-4705-aeb3-f0fbdd7b3f19	g.chr3:45748365A>G	ENST00000389061.5	+	4	503	c.299A>G	c.(298-300)tAt>tGt	p.Y100C	SACM1L_ENST00000541314.1_Intron|SACM1L_ENST00000418611.1_5'UTR|SACM1L_ENST00000464524.1_3'UTR	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)	100					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)	phosphatase activity (GO:0016791)|phosphatidylinositol bisphosphate phosphatase activity (GO:0034593)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		GTCCTTTCTTATAAGAAGACA	0.373																																						ENST00000389061.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23						c.(298-300)tAt>tGt		SAC1 suppressor of actin mutations 1-like (yeast)							90.0	88.0	89.0					3																	45748365		2203	4300	6503	SO:0001583	missense	22908					Golgi apparatus		g.chr3:45748365A>G	AB020658	CCDS33745.1	3p21.3	2010-03-11			ENSG00000211456	ENSG00000211456			17059	protein-coding gene	gene with protein product		606569				10048485, 11352561	Standard	NM_014016		Approved	SAC1, KIAA0851	uc003cos.2	Q9NTJ5	OTTHUMG00000156653	ENST00000389061.5:c.299A>G	3.37:g.45748365A>G	ENSP00000373713:p.Tyr100Cys					SACM1L_ENST00000418611.1_5'UTR|SACM1L_ENST00000541314.1_Intron|SACM1L_ENST00000464524.1_3'UTR	p.Y100C	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)	4	503	+			100					A8K527|B4DK71|O94935|Q7LA14|Q7LA22|Q96AX7|Q9NQ46|Q9NQ57	Missense_Mutation	SNP	ENST00000389061.5	37	c.299A>G	CCDS33745.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.424864	0.83667	.	.	ENSG00000211456	ENST00000389061	T	0.56776	0.44	5.52	5.52	0.82312	Synaptojanin, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.60676	0.2287	L	0.33485	1.01	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.55872	-0.8072	10	0.21540	T	0.41	-17.1008	15.6379	0.76970	1.0:0.0:0.0:0.0	.	100	Q9NTJ5	SAC1_HUMAN	C	100	ENSP00000373713:Y100C	ENSP00000373713:Y100C	Y	+	2	0	SACM1L	45723369	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.847000	0.92166	2.094000	0.63399	0.482000	0.46254	TAT		0.373	SACM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345065.2	NM_014016		24	40	0	0	0	1	0	24	40				
GYPE	2996	broad.mit.edu	37	4	144826671	144826671	+	De_novo_Start_OutOfFrame	SNP	C	C	T	rs368795769		TCGA-RT-A6YC-01A-12D-A35D-08	TCGA-RT-A6YC-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583d10a7-9d12-45d1-861b-5c2231935b2e	7a23bba7-57b3-4705-aeb3-f0fbdd7b3f19	g.chr4:144826671C>T	ENST00000358615.4	-	0	41				GYPE_ENST00000437468.2_De_novo_Start_OutOfFrame	NM_198682.2	NP_941391.2	P15421	GLPE_HUMAN	glycophorin E (MNS blood group)							integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	all_hematologic(180;0.158)					CCTGAGATCACGAGCTGGCTC	0.398																																						ENST00000358615.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5								glycophorin E (MNS blood group)							100.0	101.0	101.0					4																	144826671		2203	4300	6503			2996					integral to plasma membrane		g.chr4:144826671C>T		CCDS47138.1	4q31.21	2010-01-19	2010-01-19		ENSG00000197465	ENSG00000197465		"""Blood group antigens"""	4705	protein-coding gene	gene with protein product		138590	"""glycophorin E"""				Standard	NM_198682		Approved	GPE, MNS	uc003ijj.3	P15421	OTTHUMG00000161402	ENST00000358615.4:c.-11G>A	4.37:g.144826671C>T						GYPE_ENST00000437468.2_De_novo_Start_OutOfFrame		NM_198682.2	NP_941391.2	P15421	GLPE_HUMAN			0	41	-	all_hematologic(180;0.158)							D3DNZ5	Translation_Start_Site	SNP	ENST00000358615.4	37		CCDS47138.1																																																																																				0.398	GYPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364780.1	NM_002102		5	53	0	0	0	1	0	5	53				
MIR548A1	693125	broad.mit.edu	37	6	18572094	18572094	+	RNA	SNP	T	T	A			TCGA-RT-A6YC-01A-12D-A35D-08	TCGA-RT-A6YC-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583d10a7-9d12-45d1-861b-5c2231935b2e	7a23bba7-57b3-4705-aeb3-f0fbdd7b3f19	g.chr6:18572094T>A	ENST00000385041.1	+	0	80					NR_030312.1				microRNA 548a-1																		caattacttttgcaccaaACC	0.353																																						ENST00000385041.1																			0																				70.0	63.0	65.0					6																	18572094		1568	3582	5150			693125							g.chr6:18572094T>A			6p22.3	2011-09-12		2008-12-18	ENSG00000207775	ENSG00000207775		"""ncRNAs / Micro RNAs"""	32796	non-coding RNA	RNA, micro				MIRN548A1			Standard	NR_030312		Approved	hsa-mir-548a-1	uc021yme.1				6.37:g.18572094T>A								NR_030312.1						0	80	+									RNA	SNP	ENST00000385041.1	37																																																																																						0.353	MIR548A1-201	KNOWN	basic	miRNA	miRNA		NR_030312		9	23	0	0	0	1	0	9	23				
OR7G3	390883	broad.mit.edu	37	19	9237506	9237506	+	Missense_Mutation	SNP	C	C	T			TCGA-RT-A6YC-01A-12D-A35D-08	TCGA-RT-A6YC-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583d10a7-9d12-45d1-861b-5c2231935b2e	7a23bba7-57b3-4705-aeb3-f0fbdd7b3f19	g.chr19:9237506C>T	ENST00000305444.2	-	1	120	c.121G>A	c.(121-123)Ggg>Agg	p.G41R		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	41						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						AGCAGGTTCCCCAGCATTGTG	0.542																																						ENST00000305444.2																			0				NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(121-123)Ggg>Agg		olfactory receptor, family 7, subfamily G, member 3							106.0	92.0	97.0					19																	9237506		2203	4300	6503	SO:0001583	missense	390883				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9237506C>T		CCDS32899.1	19p13.2	2013-09-24			ENSG00000170920	ENSG00000170920		"""GPCR / Class A : Olfactory receptors"""	8467	protein-coding gene	gene with protein product							Standard	NM_001001958		Approved	OST085	uc010xkl.2	Q8NG95	OTTHUMG00000165520	ENST00000305444.2:c.121G>A	19.37:g.9237506C>T	ENSP00000302867:p.Gly41Arg						p.G41R	NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN			1	120	-			41					Q6IFJ6|Q96R99	Missense_Mutation	SNP	ENST00000305444.2	37	c.121G>A	CCDS32899.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.898396	0.33535	.	.	ENSG00000170920	ENST00000305444	T	0.04406	3.63	4.02	2.97	0.34412	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42682	U	0.000679	T	0.20659	0.0497	M	0.92459	3.31	0.09310	N	0.999999	D	0.58970	0.984	P	0.56474	0.799	T	0.08806	-1.0704	10	0.87932	D	0	.	10.5484	0.45072	0.0:0.9025:0.0:0.0975	.	41	Q8NG95	OR7G3_HUMAN	R	41	ENSP00000302867:G41R	ENSP00000302867:G41R	G	-	1	0	OR7G3	9098506	0.000000	0.05858	0.348000	0.25681	0.061000	0.15899	0.554000	0.23407	1.040000	0.40099	0.558000	0.71614	GGG		0.542	OR7G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384611.1			3	52	0	0	0	1	0	3	52				
AHR	196	broad.mit.edu	37	7	17382667	17382667	+	Silent	SNP	G	G	A			TCGA-RT-A6YC-01A-12D-A35D-08	TCGA-RT-A6YC-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583d10a7-9d12-45d1-861b-5c2231935b2e	7a23bba7-57b3-4705-aeb3-f0fbdd7b3f19	g.chr7:17382667G>A	ENST00000242057.4	+	11	3169	c.2526G>A	c.(2524-2526)ttG>ttA	p.L842L		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	842				LNETYPAELNNINNTQTTTHLQPLHHPSEARPFPDLTSSGF L -> FK (in Ref. 1; BAA03857). {ECO:0000305}.	apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|cell cycle (GO:0007049)|circadian regulation of gene expression (GO:0032922)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|regulation of B cell proliferation (GO:0030888)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to toxic substance (GO:0009636)|response to xenobiotic stimulus (GO:0009410)|transcription from RNA polymerase II promoter (GO:0006366)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosolic aryl hydrocarbon receptor complex (GO:0034752)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|Hsp90 protein binding (GO:0051879)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)				Atorvastatin(DB01076)|Flutamide(DB00499)|Ginseng(DB01404)|Leflunomide(DB01097)|Mexiletine(DB00379)|Nimodipine(DB00393)	TTCCTGATTTGACATCCAGTG	0.368																																						ENST00000242057.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33						c.(2524-2526)ttG>ttA		aryl hydrocarbon receptor							219.0	206.0	210.0					7																	17382667		2203	4300	6503	SO:0001819	synonymous_variant	196				apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr7:17382667G>A	L19872	CCDS5366.1	7p15	2013-05-21			ENSG00000106546	ENSG00000106546		"""Basic helix-loop-helix proteins"""	348	protein-coding gene	gene with protein product		600253				8125016	Standard	NM_001621		Approved	bHLHe76	uc011jxz.1	P35869	OTTHUMG00000149967	ENST00000242057.4:c.2526G>A	7.37:g.17382667G>A							p.L842L	NM_001621.4	NP_001612.1	P35869	AHR_HUMAN			11	3169	+	Lung NSC(10;0.0392)|all_lung(11;0.0754)		842	LNETYPAELNNINNTQTTTHLQPLHHPSEARPFPDLTSSGF L -> FK (in Ref. 1; BAA03857).				A4D130|Q13728|Q13803|Q13804	Silent	SNP	ENST00000242057.4	37	c.2526G>A	CCDS5366.1																																																																																				0.368	AHR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314620.2	NM_001621		7	280	0	0	0	1	0	7	280				
HIST1H2AA	221613	broad.mit.edu	37	6	25726526	25726527	+	Frame_Shift_Ins	INS	-	-	T			TCGA-RT-A6YC-01A-12D-A35D-08	TCGA-RT-A6YC-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583d10a7-9d12-45d1-861b-5c2231935b2e	7a23bba7-57b3-4705-aeb3-f0fbdd7b3f19	g.chr6:25726526_25726527insT	ENST00000297012.3	-	1	263_264	c.229_230insA	c.(229-231)actfs	p.T77fs	HIST1H2BA_ENST00000274764.2_5'Flank	NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	77						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						AATAATGCGAGTTTTTTTGTTA	0.545																																						ENST00000297012.3																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						c.(229-231)tcgfs		histone cluster 1, H2aa																																				SO:0001589	frameshift_variant	221613				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:25726526_25726527insT	AY131982	CCDS4562.1	6p22.2	2011-01-27	2006-10-11		ENSG00000164508	ENSG00000164508		"""Histones / Replication-dependent"""	18729	protein-coding gene	gene with protein product		613499	"""H2A histone family, member R"", ""histone 1, H2aa"""			12408966	Standard	NM_170745		Approved	bA317E16.2, H2AFR	uc003nfc.3	Q96QV6	OTTHUMG00000014407	ENST00000297012.3:c.230dupA	6.37:g.25726533_25726533dupT	ENSP00000297012:p.Thr77fs						p.S77fs	NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN			1	263_264	-			77						Frame_Shift_Ins	INS	ENST00000297012.3	37	c.229_230insA	CCDS4562.1																																																																																				0.545	HIST1H2AA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040065.1	NM_170745		31	73						31	73	---	---	---	---
RP11-178C3.1	0	broad.mit.edu	37	17	58050841	58050841	+	IGR	DEL	T	T	-	rs74362551|rs397743979|rs35409789		TCGA-RT-A6YC-01A-12D-A35D-08	TCGA-RT-A6YC-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583d10a7-9d12-45d1-861b-5c2231935b2e	7a23bba7-57b3-4705-aeb3-f0fbdd7b3f19	g.chr17:58050841delT	ENST00000591035.1	+	0	481				RP11-178C3.2_ENST00000586209.1_lincRNA																							acagggtttcTTTTTTTTTTT	0.413																																						ENST00000586209.1																			0																																																	SO:0001628	intergenic_variant	101927755							g.chr17:58050841delT																													17.37:g.58050841delT														0	158	+									RNA	DEL	ENST00000591035.1	37																																																																																						0.413	RP11-178C3.1-001	PUTATIVE	mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000449157.1			3	4						3	4	---	---	---	---
AC008132.13	0	broad.mit.edu	37	22	18842473	18842473	+	Intron	DEL	G	G	-	rs66480106	byFrequency	TCGA-RT-A6YC-01A-12D-A35D-08	TCGA-RT-A6YC-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583d10a7-9d12-45d1-861b-5c2231935b2e	7a23bba7-57b3-4705-aeb3-f0fbdd7b3f19	g.chr22:18842473delG	ENST00000412938.1	+	4	2208																											AGCTGCTGGTGGGGAGGTCTT	0.647													?|GGGG|GGG|unsure	2225	0.444289	0.2716	0.4467	5008	,	,		25744	0.5079		0.5099	False		,,,				2504	0.5429					ENST00000412938.1																			0																																																	SO:0001627	intron_variant	0							g.chr22:18842473delG																												ENST00000412938.1:c.2209-830G>-	22.37:g.18842473delG														0	2208	+									RNA	DEL	ENST00000412938.1	37																																																																																						0.647	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			5	5						5	5	---	---	---	---
