#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_Chromosome_hg18	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_End_position_hg18	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_NormalRefReads_WU	i_NormalVAF_WU	i_NormalVarReads_WU	i_ORegAnno_bin	i_RNARefReads_WU	i_RNAVAF_WU	i_RNAVarReads_WU	i_Start_position_hg18	i_TumorRefReads_WU	i_TumorVAF_WU	i_TumorVarReads_WU	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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_deletion_substructures	i_domain	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	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
RBKS	64080	genome.wustl.edu	37	2	28069916	28069916	+	Missense_Mutation	SNP	A	A	C			TCGA-AB-2980-03A-01D-0739-09	TCGA-AB-2980-11A-01D-0739-09	A	A	A	C	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2bcd56a1-1367-4b97-8f35-eceb3dce2e4d	3b04b48e-a9fa-4cc9-98a3-e65c1ee56543	g.chr2:28069916A>C	ENST00000302188.3	-	4	1094	c.342T>G	c.(340-342)aaT>aaG	p.N114K	RBKS_ENST00000444339.2_Missense_Mutation_p.N114K	NM_022128.1	NP_071411.1	Q9H477	RBSK_HUMAN	ribokinase	114					D-ribose catabolic process (GO:0019303)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ribokinase activity (GO:0004747)	p.N114K(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(172;0.155)					TACCTTCATTATTGACAATTA	0.333																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	2											146.0	143.0	144.0					2																	28069916		2203	4300	6503	27923420	SO:0001583	missense	0			BC017425	CCDS1762.1	2p23.3	2008-02-05			ENSG00000171174	ENSG00000171174	2.7.1.15		30325	protein-coding gene	gene with protein product		611132				8382990	Standard	NM_022128		Approved	DKFZp686G13268, RBSK	uc002rlo.1	Q9H477	OTTHUMG00000097833	ENST00000302188.3:c.342T>G	2.37:g.28069916A>C	ENSP00000306817:p.Asn114Lys	1349	0.00	0		5	37.50	3	27923420	1449	26.18	514	A9UK04|B4DV96	Missense_Mutation	SNP	PatternScan_PFKB_KINASES_1,PatternScan_PFKB_KINASES_2,HMMPfam_PfkB,superfamily_SSF53613	p.N114K	ENST00000302188.3	37	c.342	CCDS1762.1	2	.	.	.	.	.	.	.	.	.	.	A	15.80	2.938862	0.52972	.	.	ENSG00000171174	ENST00000302188;ENST00000444339	T;T	0.76448	-1.02;-1.02	5.78	4.63	0.57726	Carbohydrate/purine kinase (1);	0.082955	0.85682	D	0.000000	D	0.83760	0.5324	M	0.75150	2.29	0.58432	D	0.999999	D;P	0.59767	0.986;0.875	P;P	0.59115	0.852;0.589	D	0.83810	0.0241	10	0.59425	D	0.04	-6.5972	9.2183	0.37362	0.8438:0.0:0.1562:0.0	.	114;114	B4DV96;Q9H477	.;RBSK_HUMAN	K	114	ENSP00000306817:N114K;ENSP00000413232:N114K	ENSP00000306817:N114K	N	-	3	2	RBKS	27923420	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	3.689000	0.54706	1.025000	0.39708	0.533000	0.62120	AAT	-	HMMPfam_PfkB,superfamily_SSF53613		0.333	RBKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBKS	protein_coding	OTTHUMT00000215118.1	A	NM_022128		27923420	-1	no_errors	NM_022128.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
XIRP1	165904	genome.wustl.edu	37	3	39225927	39225927	+	Silent	SNP	T	T	C			TCGA-AB-2980-03A-01D-0739-09	TCGA-AB-2980-11A-01D-0739-09	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2bcd56a1-1367-4b97-8f35-eceb3dce2e4d	3b04b48e-a9fa-4cc9-98a3-e65c1ee56543	g.chr3:39225927T>C	ENST00000340369.3	-	2	5238	c.5010A>G	c.(5008-5010)ccA>ccG	p.P1670P	XIRP1_ENST00000421646.1_Silent_p.P353P|XIRP1_ENST00000396251.1_3'UTR	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1670					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)	p.P1670P(1)		breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		AGATAAATGTTGGGGAGGAGG	0.542																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	3											82.0	88.0	86.0					3																	39225927		2203	4300	6503	39200931	SO:0001819	synonymous_variant	0			AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.5010A>G	3.37:g.39225927T>C		752	0.26	2		NA	NA	NA	39200931	819	30.09	359	A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Silent	SNP	HMMPfam_Xin	p.P1670	ENST00000340369.3	37	c.5010	CCDS2683.1	3																																																																																			-	NULL		0.542	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	XIRP1	protein_coding	OTTHUMT00000254065.1	T	XM_093522		39200931	-1	no_errors	NM_194293.2	genbank	human	provisional	54_36p	silent	SNP	0.979	C
CACNA2D3	55799	genome.wustl.edu	37	3	54933863	54933863	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2980-03A-01D-0739-09	TCGA-AB-2980-11A-01D-0739-09	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2bcd56a1-1367-4b97-8f35-eceb3dce2e4d	3b04b48e-a9fa-4cc9-98a3-e65c1ee56543	g.chr3:54933863T>C	ENST00000474759.1	+	27	2465	c.2417T>C	c.(2416-2418)cTc>cCc	p.L806P	CACNA2D3_ENST00000288197.5_Missense_Mutation_p.L806P|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.L806P|CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.L712P	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	806						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.L806P(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	TCCATCCAGCTCCTGGATGAA	0.433																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	3											79.0	79.0	79.0					3																	54933863		1944	4140	6084	54908903	SO:0001583	missense	0			AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"""Calcium channel subunits"""	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.2417T>C	3.37:g.54933863T>C	ENSP00000419101:p.Leu806Pro	1104	0.00	0		NA	NA	NA	54908903	920	32.16	437	B2RPL6|Q9NY16|Q9NY18	Missense_Mutation	SNP	HMMPfam_VWA,HMMSmart_SM00327,HMMPfam_Cache_1,HMMPfam_VWA_N,superfamily_vWA-like	p.L806P	ENST00000474759.1	37	c.2417	CCDS54598.1	3	.	.	.	.	.	.	.	.	.	.	T	21.3	4.124985	0.77436	.	.	ENSG00000157445	ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000398624	T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05	5.58	5.58	0.84498	.	0.070658	0.64402	D	0.000016	T	0.74245	0.3691	N	0.16567	0.415	0.80722	D	1	D	0.61697	0.99	P	0.56788	0.806	T	0.72798	-0.4184	10	0.25106	T	0.35	.	14.0033	0.64446	0.0:0.0:0.0:1.0	.	806	Q8IZS8	CA2D3_HUMAN	P	806;806;806;712;712	ENSP00000389506:L806P;ENSP00000419101:L806P;ENSP00000288197:L806P;ENSP00000417279:L712P	ENSP00000288197:L806P	L	+	2	0	CACNA2D3	54908903	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.755000	0.74914	2.121000	0.65114	0.533000	0.62120	CTC	-	NULL		0.433	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA2D3	protein_coding	OTTHUMT00000351402.1	T			54908903	+1	no_errors	NM_018398.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
ASTE1	28990	genome.wustl.edu	37	3	130737522	130737522	+	Silent	SNP	G	G	A			TCGA-AB-2980-03A-01D-0739-09	TCGA-AB-2980-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2bcd56a1-1367-4b97-8f35-eceb3dce2e4d	3b04b48e-a9fa-4cc9-98a3-e65c1ee56543	g.chr3:130737522G>A	ENST00000264992.3	-	4	1782	c.1341C>T	c.(1339-1341)acC>acT	p.T447T	ASTE1_ENST00000514044.1_Silent_p.T447T	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	447					DNA repair (GO:0006281)		nuclease activity (GO:0004518)	p.T447T(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						TCACCTTCAGGGTTTCTAACA	0.458																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	3											99.0	99.0	99.0					3																	130737522		2203	4300	6503	132220212	SO:0001819	synonymous_variant	0			AF113539	CCDS3068.1, CCDS75007.1	3q21.3	2005-11-17			ENSG00000034533	ENSG00000034533			25021	protein-coding gene	gene with protein product							Standard	NM_014065		Approved	HT001	uc003env.1	Q2TB18	OTTHUMG00000159644	ENST00000264992.3:c.1341C>T	3.37:g.130737522G>A		928	0.11	1		1	75.00	3	132220212	845	27.17	316	B4DFL9|Q3MIB6|Q8N6G4|Q96JY1|Q9UHX6	Silent	SNP	HMMPfam_XPG_N,superfamily_SSF88723	p.T447	ENST00000264992.3	37	c.1341	CCDS3068.1	3	.	.	.	.	.	.	.	.	.	.	G	0.345	-0.948071	0.02304	.	.	ENSG00000034533	ENST00000505290	.	.	.	5.57	-1.54	0.08584	.	.	.	.	.	T	0.40791	0.1131	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23511	-1.0186	4	.	.	.	-6.9232	1.8735	0.03214	0.2029:0.096:0.3395:0.3616	.	.	.	.	L	24	.	.	P	-	2	0	ASTE1	132220212	0.008000	0.16893	0.906000	0.35671	0.032000	0.12392	-1.205000	0.03014	-0.721000	0.04929	-0.137000	0.14449	CCC	-	NULL		0.458	ASTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASTE1	protein_coding	OTTHUMT00000356659.1	G	NM_014065		132220212	-1	no_errors	NM_014065.2	genbank	human	validated	54_36p	silent	SNP	0.869	A
DCT	1638	genome.wustl.edu	37	13	95121165	95121165	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2980-03A-01D-0739-09	TCGA-AB-2980-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2bcd56a1-1367-4b97-8f35-eceb3dce2e4d	3b04b48e-a9fa-4cc9-98a3-e65c1ee56543	g.chr13:95121165C>T	ENST00000377028.5	-	2	843	c.430G>A	c.(430-432)Gcc>Acc	p.A144T	DCT_ENST00000446125.1_Missense_Mutation_p.A144T|DCT_ENST00000490854.1_5'Flank	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	144					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)	p.A144T(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		AGATCTAAGGCGCCCAAGAAC	0.567																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	13											223.0	222.0	223.0					13																	95121165		2203	4300	6503	93919166	SO:0001583	missense	0			D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"""dopachrome delta-isomerase"""	191275	"""tyrosine-related protein 2"""	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.430G>A	13.37:g.95121165C>T	ENSP00000366227:p.Ala144Thr	904	0.00	0		NA	NA	NA	93919166	833	26.41	299	Q09GT4	Missense_Mutation	SNP	HMMPfam_Tyrosinase,PatternScan_TYROSINASE_1,PatternScan_TYROSINASE_2,superfamily_Di-copper_centre	p.A144T	ENST00000377028.5	37	c.430	CCDS9470.1	13	.	.	.	.	.	.	.	.	.	.	C	7.838	0.721290	0.15372	.	.	ENSG00000080166	ENST00000377028;ENST00000446125	D;D	0.99656	-6.31;-6.31	5.79	4.95	0.65309	Uncharacterised domain, di-copper centre (2);	0.208574	0.49916	D	0.000132	D	0.98757	0.9582	M	0.88241	2.94	0.44447	D	0.997372	P;P	0.36909	0.573;0.47	B;B	0.20577	0.028;0.03	D	0.98387	1.0561	9	.	.	.	-13.6118	10.625	0.45502	0.1338:0.7982:0.0:0.068	.	144;144	Q09GT4;P40126	.;TYRP2_HUMAN	T	144	ENSP00000366227:A144T;ENSP00000392762:A144T	.	A	-	1	0	DCT	93919166	0.998000	0.40836	0.198000	0.23420	0.047000	0.14425	3.793000	0.55484	1.445000	0.47624	0.655000	0.94253	GCC	-	superfamily_Di-copper_centre		0.567	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCT	protein_coding	OTTHUMT00000045461.3	C			93919166	-1	no_errors	NM_001922.1	genbank	human	validated	54_36p	missense	SNP	0.599	T
IGHV3OR16-13	100287372	genome.wustl.edu	37	16	33629937	33629937	+	RNA	SNP	C	C	G			TCGA-AB-2980-03A-01D-0739-09	TCGA-AB-2980-11A-01D-0739-09	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2bcd56a1-1367-4b97-8f35-eceb3dce2e4d	3b04b48e-a9fa-4cc9-98a3-e65c1ee56543	g.chr16:33629937C>G	ENST00000562905.2	+	0	162									immunoglobulin heavy variable 3/OR16-13 (non-functional)																		ACTGGATGCACTGGGTCCGCC	0.567																																						dbGAP											0			16																																								33537438			0			Z29610		16p11.2	2013-12-06	2008-09-11		ENSG00000271178	ENSG00000271178		"""Immunoglobulins / IGH orphons"""	5637	other	immunoglobulin gene			"""immunoglobulin heavy variable 3/OR16-13"""				Standard	NG_011771		Approved	IGHV3/OR16-13			OTTHUMG00000176357		16.37:g.33629937C>G		648	0.00	0		3	25.00	1	33537438	557	16.49	110		Missense_Mutation	SNP	HMMSmart_IGv,HMMPfam_V-set,superfamily_SSF48726	p.H54Q	ENST00000562905.2	37	c.162		16																																																																																			-	HMMSmart_IGv,HMMPfam_V-set,superfamily_SSF48726		0.567	IGHV3OR16-13-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	ENSG00000198229	IG_V_gene	OTTHUMT00000431815.2	C	NG_011771		33537438	+1	no_stop_codon	ENST00000354689	ensembl	human	known	54_36p	missense	SNP	0.984	G
FLT3	2322	genome.wustl.edu	37	13	28608255	28608256	+	In_Frame_Ins	INS	-	-	ATCATATTCATATTCTCTGAA			TCGA-AB-2980-03A-01D-0739-09	TCGA-AB-2980-11A-01D-0739-09	-	-	-	ATCATATTCATATTCTCTGAA	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2bcd56a1-1367-4b97-8f35-eceb3dce2e4d	3b04b48e-a9fa-4cc9-98a3-e65c1ee56543	g.chr13:28608255_28608256insATCATATTCATATTCTCTGAA	ENST00000241453.7	-	14	1881_1882	c.1800_1801insTTCAGAGAATATGAATATGAT	c.(1798-1803)gatctc>gatTTCAGAGAATATGAATATGATctc	p.599_600insDFREYEY	FLT3_ENST00000380982.4_In_Frame_Ins_p.599_600insDFREYEY|FLT3_ENST00000537084.1_In_Frame_Ins_p.599_600insDFREYEY	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	599					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.D600_L601insFREYEYD(4)|p.D600_L601ins17(2)|p.D600_L601>HVDFREYEYD(2)|p.Y599_D600insEYEYEYEY(2)|p.Y599_D600ins12(1)|p.D600_L601ins28(1)|p.D600>EPAPQINSTGSSDNEYFYVDFREYEYDLT(1)|p.600_601>PTSQVTGSSDNEYFYVDFREYEYD(1)|p.600_601>PRGFYVDFREYEYD(1)|p.D600_L601ins20(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCCCATTTGAGATCATATTCAT	0.366			"""Mis, O"""		"""AML, ALL"""																																	dbGAP		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	16	Insertion - In frame(11)|Complex - insertion inframe(5)	haematopoietic_and_lymphoid_tissue(16)	13																																								27506256	SO:0001652	inframe_insertion	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1780_1800dupTTCAGAGAATATGAATATGAT	13.37:g.28608255_28608256insATCATATTCATATTCTCTGAA	ENSP00000241453:p.Asp593_Tyr599dup	NA	NA	NA		NA	NA	NA	27506255	NA	NA	NA	A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	In_Frame_Ins	INS	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.600in_frame_insFREYEYD	ENST00000241453.7	37	c.1801_1800	CCDS31953.1	13																																																																																			-	superfamily_Kinase_like		0.366	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	protein_coding	OTTHUMT00000044319.2	-			27506256	-1	no_errors	NM_004119.2	genbank	human	reviewed	54_36p	in_frame_ins	INS	1.000:0.998	ATCATATTCATATTCTCTGAA
