#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_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	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_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	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_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
APOBR	55911	genome.wustl.edu	37	16	28507415	28507417	+	Intron	DEL	GGA	GGA	-	rs148114931|rs365499		TCGA-AR-A2LQ-01A-22D-A18P-09	TCGA-AR-A2LQ-10A-01D-A18P-09	GGA	GGA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1949e7b2-9b9a-491d-9f97-3e1490358060	2d6e42d0-34e0-4f7f-819c-303ff154aafa	g.chr16:28507415_28507417delGGA	ENST00000431282.1	+	2	1058				CLN3_ENST00000569430.1_5'Flank|APOBR_ENST00000564831.1_In_Frame_Del_p.E353del|APOBR_ENST00000328423.5_Intron|CLN3_ENST00000567160.1_5'Flank			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor						cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						CCTCAGGAGGGGAGGAGGCCGGG	0.704																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"""apolipoprotein B48 receptor"", ""apolipoprotein B100 receptor"""	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83		ENST00000431282.1:c.1048+5GGA>-	16.37:g.28507418_28507420delGGA		Somatic		WXS	Illumina GAIIx	Phase_IV	H3BU97|Q0VD81|Q8NC15|Q9NPJ9	In_Frame_Del	DEL	NULL	p.E353in_frame_del	ENST00000431282.1	37	c.1053_1055		16																																																																																			APOBR	-	NULL	ENSG00000184730		0.704	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	APOBR	HGNC	protein_coding		21	0.00	0	GGA	NM_182804		28507415	28507417	+1	no_errors	ENST00000564831	ensembl	human	known	69_37n	in_frame_del	21	18.52	5	DEL	0.000:0.005:0.010	-
CROCCP2	84809	genome.wustl.edu	37	1	16950090	16950090	+	lincRNA	SNP	G	G	A	rs11260844		TCGA-AR-A2LQ-01A-22D-A18P-09	TCGA-AR-A2LQ-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1949e7b2-9b9a-491d-9f97-3e1490358060	2d6e42d0-34e0-4f7f-819c-303ff154aafa	g.chr1:16950090G>A	ENST00000412962.1	-	0	1000							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											gccaggcaccgtgccacggcc	0.532																																						dbGAP											0																																										-	-	-			0			AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16950090G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	-	NULL	ENST00000412962.1	37	NULL		1																																																																																			CROCCP2	-	-	ENSG00000215908		0.532	CROCCP2-003	KNOWN	basic	lincRNA	CROCCP2	HGNC	lincRNA	OTTHUMT00000092784.1	9	0.00	0	G	NR_026752.1		16950090	16950090	-1	no_errors	ENST00000421700	ensembl	human	known	69_37n	rna	6	40.00	4	SNP	0.000	A
DGCR14	8220	genome.wustl.edu	37	22	19121812	19121812	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A2LQ-01A-22D-A18P-09	TCGA-AR-A2LQ-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1949e7b2-9b9a-491d-9f97-3e1490358060	2d6e42d0-34e0-4f7f-819c-303ff154aafa	g.chr22:19121812G>A	ENST00000252137.6	-	10	1371	c.1328C>T	c.(1327-1329)gCg>gTg	p.A443V		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	443					mRNA splicing, via spliceosome (GO:0000398)|nervous system development (GO:0007399)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					AGAGCCAGGCGCCGGTGTGCT	0.677																																						dbGAP											0													65.0	59.0	61.0					22																	19121812		2203	4299	6502	-	-	-	SO:0001583	missense	0			L77566	CCDS13756.1	22q11.21	2007-02-20			ENSG00000100056	ENSG00000100056			16817	protein-coding gene	gene with protein product		601755	"""DiGeorge syndrome critical region gene 13"""	DGCR13		8776594, 9063747	Standard	NM_022719		Approved	DGSI, Es2el, ES2, DGS-H	uc002zou.3	Q96DF8	OTTHUMG00000150119	ENST00000252137.6:c.1328C>T	22.37:g.19121812G>A	ENSP00000252137:p.Ala443Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q49AH7|Q9BTZ4	Missense_Mutation	SNP	pfam_Nuclear_protein_DGCR14	p.A443V	ENST00000252137.6	37	c.1328	CCDS13756.1	22	.	.	.	.	.	.	.	.	.	.	G	8.805	0.933868	0.18206	.	.	ENSG00000100056	ENST00000252137	T	0.23754	1.89	4.42	3.4	0.38934	.	0.235442	0.41294	N	0.000901	T	0.16171	0.0389	L	0.29908	0.895	0.19300	N	0.999971	B	0.21147	0.052	B	0.08055	0.003	T	0.15492	-1.0435	10	0.30078	T	0.28	-6.7122	8.2454	0.31684	0.0853:0.0:0.7593:0.1554	.	443	Q96DF8	DGC14_HUMAN	V	443	ENSP00000252137:A443V	ENSP00000252137:A443V	A	-	2	0	DGCR14	17501812	1.000000	0.71417	0.059000	0.19551	0.019000	0.09904	6.067000	0.71193	1.089000	0.41292	-0.218000	0.12543	GCG	DGCR14	-	NULL	ENSG00000100056		0.677	DGCR14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGCR14	HGNC	protein_coding	OTTHUMT00000316432.2	95	0.00	0	G			19121812	19121812	-1	no_errors	ENST00000252137	ensembl	human	known	69_37n	missense	107	10.08	12	SNP	0.165	A
FADS6	283985	genome.wustl.edu	37	17	72889676	72889676	+	Silent	SNP	G	G	C	rs4319809|rs1625113	byFrequency	TCGA-AR-A2LQ-01A-22D-A18P-09	TCGA-AR-A2LQ-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1949e7b2-9b9a-491d-9f97-3e1490358060	2d6e42d0-34e0-4f7f-819c-303ff154aafa	g.chr17:72889676G>C	ENST00000310226.6	-	1	32	c.18C>G	c.(16-18)ccC>ccG	p.P6P		NM_178128.3	NP_835229.2	Q8N9I5	FADS6_HUMAN	fatty acid desaturase 6	12	3 X 6 AA tandem repeat of M-E-P-T-E-P.				fatty acid biosynthetic process (GO:0006633)	integral component of membrane (GO:0016021)	oxidoreductase activity (GO:0016491)			endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					TAGGTTCCATGGGCTCCGTGG	0.726																																						dbGAP											0													17.0	23.0	21.0					17																	72889676		2064	4192	6256	-	-	-	SO:0001819	synonymous_variant	0			AK094411	CCDS54163.1	17q25.1	2014-07-17	2013-01-25			ENSG00000172782		"""Fatty acid desaturases"""	30459	protein-coding gene	gene with protein product			"""fatty acid desaturase domain family, member 6"""				Standard	XM_005257224		Approved		uc002jmd.1	Q8N9I5		ENST00000310226.6:c.18C>G	17.37:g.72889676G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RQ7|Q6XYE1	Silent	SNP	pfam_Fatty_acid_desaturase-1	p.P6	ENST00000310226.6	37	c.18	CCDS54163.1	17																																																																																			FADS6	-	NULL	ENSG00000172782		0.726	FADS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FADS6	HGNC	protein_coding	OTTHUMT00000445219.1	13	0.00	0	G			72889676	72889676	-1	no_errors	ENST00000310226	ensembl	human	known	69_37n	silent	13	27.78	5	SNP	0.027	C
CTBS	1486	genome.wustl.edu	37	1	85018772	85018772	+	3'UTR	DEL	A	A	-			TCGA-AR-A2LQ-01A-22D-A18P-09	TCGA-AR-A2LQ-10A-01D-A18P-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1949e7b2-9b9a-491d-9f97-3e1490358060	2d6e42d0-34e0-4f7f-819c-303ff154aafa	g.chr1:85018772delA	ENST00000370630.5	-	0	3116				CTBS_ENST00000477677.1_5'Flank	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-						chitin catabolic process (GO:0006032)|oligosaccharide catabolic process (GO:0009313)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	chitinase activity (GO:0004568)	p.I452fs*1(2)		breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		ACTGGCACAGAAAAAAAAAAT	0.239																																						dbGAP											2	Deletion - Frameshift(2)	large_intestine(1)|central_nervous_system(1)								84,112,2696		6,0,72,9,94,1265	4.0	4.0	4.0			4.5	1.0	1		5	187,225,6094		21,3,142,14,194,2879	no	near-gene-3				27,3,214,23,288,4144	A1A1,A1A2,A1R,A2A2,A2R,RR		6.3326,6.7773,6.4695			85018772	271,337,8790	1533	3494	5027	-	-	-	SO:0001624	3_prime_UTR_variant	0			M95767	CCDS698.1	1p22	2010-05-04			ENSG00000117151	ENSG00000117151	3.2.1.-		2496	protein-coding gene	gene with protein product		600873		CTB		1549114, 7606925	Standard	NM_004388		Approved		uc001dka.2	Q01459	OTTHUMG00000009922	ENST00000370630.5:c.*1910T>-	1.37:g.85018772delA		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VX50	RNA	DEL	-	NULL	ENST00000370630.5	37	NULL	CCDS698.1	1																																																																																			SPATA1	-	-	ENSG00000122432		0.239	CTBS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA1	HGNC	protein_coding	OTTHUMT00000027457.2	14	0.00	0	A	NM_004388		85018772	85018772	+1	no_errors	ENST00000460286	ensembl	human	known	69_37n	rna	4	33.33	2	DEL	1.000	-
SSBP3	23648	genome.wustl.edu	37	1	54722851	54722851	+	Missense_Mutation	SNP	C	C	A			TCGA-AR-A2LQ-01A-22D-A18P-09	TCGA-AR-A2LQ-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1949e7b2-9b9a-491d-9f97-3e1490358060	2d6e42d0-34e0-4f7f-819c-303ff154aafa	g.chr1:54722851C>A	ENST00000371320.3	-	7	866	c.456G>T	c.(454-456)atG>atT	p.M152I	SSBP3_ENST00000326956.7_5'UTR|SSBP3_ENST00000357475.4_Intron|SSBP3_ENST00000417664.2_Missense_Mutation_p.M42I|SSBP3_ENST00000371319.3_Missense_Mutation_p.M125I	NM_145716.2	NP_663768.1	Q9BWW4	SSBP3_HUMAN	single stranded DNA binding protein 3	152	Pro-rich.				head morphogenesis (GO:0060323)|hematopoietic progenitor cell differentiation (GO:0002244)|midbrain-hindbrain boundary initiation (GO:0021547)|positive regulation of anterior head development (GO:2000744)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prechordal plate formation (GO:0021501)|protein complex assembly (GO:0006461)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|protein complex (GO:0043234)	single-stranded DNA binding (GO:0003697)			central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	11						ATCGCGGTGACATAAAAGGCT	0.507																																						dbGAP											0													77.0	60.0	65.0					1																	54722851		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS590.1, CCDS591.1, CCDS30726.1	1p32.3	2008-02-05	2001-11-28		ENSG00000157216	ENSG00000157216			15674	protein-coding gene	gene with protein product		607390	"""single-stranded DNA-binding protein 3"""			12079286	Standard	NM_145716		Approved	CSDP, SSDP, FLJ10355, SSDP1	uc001cxe.4	Q9BWW4	OTTHUMG00000008264	ENST00000371320.3:c.456G>T	1.37:g.54722851C>A	ENSP00000360371:p.Met152Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0A9|Q5T860|Q5T861|Q9BTM0|Q9BWW3	Missense_Mutation	SNP	pfam_SSDP_ss-bd,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_SSDP_DNA-bd	p.M152I	ENST00000371320.3	37	c.456	CCDS591.1	1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.886777	0.51908	.	.	ENSG00000157216	ENST00000417664;ENST00000371320;ENST00000371319;ENST00000525990	.	.	.	4.29	4.29	0.51040	.	0.000000	0.85682	U	0.000000	T	0.77558	0.4148	M	0.65975	2.015	0.80722	D	1	P;D	0.76494	0.656;0.999	P;D	0.87578	0.679;0.998	T	0.79806	-0.1648	9	0.56958	D	0.05	-6.5063	17.3259	0.87246	0.0:1.0:0.0:0.0	.	125;152	Q9BWW4-2;Q9BWW4	.;SSBP3_HUMAN	I	42;152;125;15	.	ENSP00000360370:M125I	M	-	3	0	SSBP3	54495439	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.704000	0.74639	2.412000	0.81896	0.655000	0.94253	ATG	SSBP3	-	pfam_SSDP_ss-bd	ENSG00000157216		0.507	SSBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SSBP3	HGNC	protein_coding	OTTHUMT00000022721.1	42	0.00	0	C	NM_018070		54722851	54722851	-1	no_errors	ENST00000371320	ensembl	human	known	69_37n	missense	25	13.79	4	SNP	1.000	A
TPSAB1	7177	genome.wustl.edu	37	16	1291454	1291454	+	Missense_Mutation	SNP	G	G	A	rs201351744		TCGA-AR-A2LQ-01A-22D-A18P-09	TCGA-AR-A2LQ-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1949e7b2-9b9a-491d-9f97-3e1490358060	2d6e42d0-34e0-4f7f-819c-303ff154aafa	g.chr16:1291454G>A	ENST00000338844.3	+	4	286	c.253G>A	c.(253-255)Gcc>Acc	p.A85T	TPSAB1_ENST00000461509.2_Missense_Mutation_p.A92T	NM_003294.3	NP_003285.2	Q15661	TRYB1_HUMAN	tryptase alpha/beta 1	85	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		A -> T (in dbSNP:rs1141968). {ECO:0000269|PubMed:10898108, ECO:0000269|PubMed:2677049, ECO:0000269|Ref.5}.		defense response (GO:0006952)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10		Hepatocellular(780;0.00369)				GGATCTGGCCGCCCTCAGGGT	0.667																																						dbGAP											0													6.0	7.0	7.0					16																	1291454		2030	4042	6072	-	-	-	SO:0001583	missense	0			M33494	CCDS10431.1	16p13.3	2009-11-13	2004-10-14	2004-10-15	ENSG00000172236	ENSG00000172236			12019	protein-coding gene	gene with protein product	"""tryptase alpha II"", ""tryptase beta I"", ""tryptase-I"", ""tryptase-II"", ""tryptase-III"""	191080	"""tryptase beta 1"""	TPSB1, TPS1, TPS2		2203827, 9920877	Standard	NM_003294		Approved		uc002ckz.3	Q15661	OTTHUMG00000090467	ENST00000338844.3:c.253G>A	16.37:g.1291454G>A	ENSP00000343577:p.Ala85Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	D2E6R9|D2E6S1|P15157|Q15663|Q6B052|Q9H2Y4|Q9H2Y5|Q9UQI1	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.A85T	ENST00000338844.3	37	c.253	CCDS10431.1	16	.	.	.	.	.	.	.	.	.	.	g	1.250	-0.618741	0.03663	.	.	ENSG00000172236	ENST00000338844;ENST00000461509	D;D	0.88975	-2.45;-2.45	2.93	-5.57	0.02521	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	2.192380	0.02106	N	0.054344	T	0.64204	0.2577	N	0.01146	-0.985	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.63475	-0.6629	10	0.12766	T	0.61	.	1.3572	0.02184	0.1257:0.3104:0.2064:0.3575	.	85	Q15661	TRYB1_HUMAN	T	85;92	ENSP00000343577:A85T;ENSP00000418247:A92T	ENSP00000343577:A85T	A	+	1	0	TPSAB1	1231455	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-1.166000	0.03129	-0.748000	0.04753	-0.346000	0.07831	GCC	TPSAB1	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000172236		0.667	TPSAB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TPSAB1	HGNC	protein_coding	OTTHUMT00000206914.1	15	0.00	0	G	NM_003294		1291454	1291454	+1	no_errors	ENST00000562675	ensembl	human	known	69_37n	missense	18	28.00	7	SNP	0.000	A
YTHDC1	91746	genome.wustl.edu	37	4	69204039	69204039	+	Missense_Mutation	SNP	T	T	C			TCGA-AR-A2LQ-01A-22D-A18P-09	TCGA-AR-A2LQ-10A-01D-A18P-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1949e7b2-9b9a-491d-9f97-3e1490358060	2d6e42d0-34e0-4f7f-819c-303ff154aafa	g.chr4:69204039T>C	ENST00000344157.4	-	2	427	c.92A>G	c.(91-93)tAt>tGt	p.Y31C	YTHDC1_ENST00000579690.1_Missense_Mutation_p.Y31C|YTHDC1_ENST00000355665.3_Missense_Mutation_p.Y31C	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	31					mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.Y31C(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						CTCTGGATTATACAGTTCATC	0.279																																						dbGAP											1	Substitution - Missense(1)	kidney(1)											97.0	91.0	93.0					4																	69204039		2199	4295	6494	-	-	-	SO:0001583	missense	0			AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.92A>G	4.37:g.69204039T>C	ENSP00000339245:p.Tyr31Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W5Q3|Q7Z622|Q8TF35	Missense_Mutation	SNP	pfam_YTH_domain,pfscan_YTH_domain	p.Y31C	ENST00000344157.4	37	c.92	CCDS33992.1	4	.	.	.	.	.	.	.	.	.	.	T	15.33	2.800648	0.50315	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	T;T	0.27104	1.69;1.73	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.32071	0.0817	N	0.11560	0.145	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.99	T	0.29274	-1.0017	10	0.37606	T	0.19	.	15.6407	0.76997	0.0:0.0:0.0:1.0	.	31;31	Q96MU7-2;Q96MU7	.;YTDC1_HUMAN	C	31	ENSP00000339245:Y31C;ENSP00000347888:Y31C	ENSP00000339245:Y31C	Y	-	2	0	YTHDC1	68886634	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.406000	0.80017	2.143000	0.66587	0.528000	0.53228	TAT	YTHDC1	-	NULL	ENSG00000083896		0.279	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	YTHDC1	HGNC	protein_coding	OTTHUMT00000251437.1	69	0.00	0	T	NM_133370		69204039	69204039	-1	no_errors	ENST00000344157	ensembl	human	known	69_37n	missense	84	11.58	11	SNP	1.000	C
