#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_Mutation_Status	i_NormalRefReads_WU	i_NormalVAF_WU	i_NormalVarReads_WU	i_ORegAnno_bin	i_RNARefReads_WU	i_RNAVAF_WU	i_RNAVarReads_WU	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
DCTN1	1639	genome.wustl.edu	37	2	74605337	74605337	+	Silent	SNP	G	G	A			TCGA-AB-3007-03A-01D-0739-09	TCGA-AB-3007-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	f6d05765-b161-480b-8613-b243e7a579a0	fff75bd4-e19f-4b6c-841d-12f05e25a817	g.chr2:74605337G>A	ENST00000361874.3	-	2	386	c.69C>T	c.(67-69)agC>agT	p.S23S	DCTN1_ENST00000409567.3_Silent_p.S23S|DCTN1_ENST00000394003.3_Silent_p.S23S|DCTN1_ENST00000409240.1_Silent_p.S6S|DCTN1_ENST00000409868.1_Silent_p.S6S	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	23					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)	p.S23S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						GAGGCCGGGCGCTTGCCTCCG	0.562																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	2											50.0	53.0	52.0					2																	74605337		2203	4300	6503	74458845	SO:0001819	synonymous_variant	0				CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"""p150 glued homolog (Drosophila)"""	601143	"""dynactin 1 (p150, Glued (Drosophila) homolog)"""			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.69C>T	2.37:g.74605337G>A		Somatic	949	0.11	1		14	41.67	10	WXS	Illumina HiSeq	Phase_IV	74458845	646	35.84	362	A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Silent	SNP	HMMPfam_CAP_GLY,PatternScan_CAP_GLY_1,superfamily_Spectrin repeat,superfamily_Cap-Gly domain	p.S23	ENST00000361874.3	37	c.69	CCDS1939.1	2																																																																																			-	superfamily_Cap-Gly domain		0.562	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DCTN1	protein_coding	OTTHUMT00000252227.3	G	NM_004082		74458845	-1	no_errors	NM_004082.1	genbank	human	reviewed	54_36p	silent	SNP	0.990	A
TMEM169	92691	genome.wustl.edu	37	2	216964917	216964917	+	Silent	SNP	C	C	T			TCGA-AB-3007-03A-01D-0739-09	TCGA-AB-3007-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	f6d05765-b161-480b-8613-b243e7a579a0	fff75bd4-e19f-4b6c-841d-12f05e25a817	g.chr2:216964917C>T	ENST00000295658.4	+	3	753	c.546C>T	c.(544-546)taC>taT	p.Y182Y	TMEM169_ENST00000437356.2_Silent_p.Y182Y|TMEM169_ENST00000406027.2_Silent_p.Y182Y|TMEM169_ENST00000454545.1_Silent_p.Y182Y	NM_001142311.1|NM_001142312.1|NM_138390.3	NP_001135783.1|NP_001135784.1|NP_612399.1	Q96HH4	TM169_HUMAN	transmembrane protein 169	182						integral component of membrane (GO:0016021)		p.Y182Y(2)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)	13		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTTCTACTACGGCACTATCA	0.512																																						dbGAP											2	Substitution - coding silent(2)	haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	2											263.0	224.0	237.0					2																	216964917		2203	4300	6503	216673162	SO:0001819	synonymous_variant	0			AK091582	CCDS2401.1	2q35	2008-02-05			ENSG00000163449	ENSG00000163449			25130	protein-coding gene	gene with protein product						12477932	Standard	NM_001142310		Approved	FLJ34263	uc002vfv.4	Q96HH4	OTTHUMG00000133053	ENST00000295658.4:c.546C>T	2.37:g.216964917C>T		Somatic	2880	0.14	4		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	216673162	1169	34.91	629	B2R8W6	Silent	SNP	NULL	p.Y182	ENST00000295658.4	37	c.546	CCDS2401.1	2																																																																																			-	NULL		0.512	TMEM169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM169	protein_coding	OTTHUMT00000256666.2	C	NM_138390		216673162	+1	no_errors	NM_138390.1	genbank	human	validated	54_36p	silent	SNP	0.998	T
Unknown	0	genome.wustl.edu	37	5	17655570	17655570	+	IGR	SNP	G	G	A			TCGA-AB-3007-03A-01D-0739-09	TCGA-AB-3007-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	f6d05765-b161-480b-8613-b243e7a579a0	fff75bd4-e19f-4b6c-841d-12f05e25a817	g.chr5:17655570G>A								RP11-321E2.4 (171515 upstream) : RP11-454P21.1 (194797 downstream)																							CCCTTTTTCCGGCTGCTTTGG	0.662																																						dbGAP											0			5																																								17688319	SO:0001628	intergenic_variant	0																															5.37:g.17655570G>A		Somatic	197	0.00	0		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	17688319	221	41.82	161		Silent	SNP	HMMSmart_SM00428,PatternScan_HISTONE_H3_2,HMMPfam_Histone,superfamily_Histone-fold	p.A26		37	c.78		5																																																																																			-	superfamily_Histone-fold	0	0.662					LOC391769			G			17688319	-1	no_errors	XM_373079.1	genbank	human	model	54_36p	silent	SNP	0.986	A
TTLL2	83887	genome.wustl.edu	37	6	167754667	167754667	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-3007-03A-01D-0739-09	TCGA-AB-3007-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	f6d05765-b161-480b-8613-b243e7a579a0	fff75bd4-e19f-4b6c-841d-12f05e25a817	g.chr6:167754667G>A	ENST00000239587.5	+	3	1367	c.1279G>A	c.(1279-1281)Gcc>Acc	p.A427T		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	427	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)		ligase activity (GO:0016874)	p.A427T(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		GGGGAGAGAAGCCAGTAATGC	0.418																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	6											85.0	87.0	86.0					6																	167754667		2203	4300	6503	167674657	SO:0001583	missense	0			AK093039	CCDS5301.1	6q27	2013-02-14		2004-01-14	ENSG00000120440	ENSG00000120440		"""Tubulin tyrosine ligase-like family"""	21211	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 104"""	C6orf104		11054573	Standard	XM_006715572		Approved	NYD-TSPG, dJ366N23.3	uc003qvs.1	Q9BWV7	OTTHUMG00000016023	ENST00000239587.5:c.1279G>A	6.37:g.167754667G>A	ENSP00000239587:p.Ala427Thr	Somatic	1012	0.20	2		2	0.00	0	WXS	Illumina HiSeq	Phase_IV	167674657	331	36.08	188	B2RB11|B3KS77|Q7Z6R8|Q86X22	Missense_Mutation	SNP	HMMPfam_TTL,superfamily_Glutathione synthetase ATP-binding domain-like	p.A427T	ENST00000239587.5	37	c.1279	CCDS5301.1	6	.	.	.	.	.	.	.	.	.	.	G	2.760	-0.258085	0.05791	.	.	ENSG00000120440	ENST00000239587;ENST00000540954	T	0.02395	4.31	3.61	-7.22	0.01485	.	2.519730	0.01379	N	0.012845	T	0.00356	0.0011	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.45600	-0.9250	10	0.13108	T	0.6	.	4.2791	0.10824	0.1023:0.2217:0.4721:0.2039	.	427	Q9BWV7	TTLL2_HUMAN	T	427;354	ENSP00000239587:A427T	ENSP00000239587:A427T	A	+	1	0	TTLL2	167674657	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-5.443000	0.00122	-3.096000	0.00246	-0.479000	0.04858	GCC	-	NULL		0.418	TTLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL2	protein_coding	OTTHUMT00000043127.3	G	NM_031949		167674657	+1	no_errors	NM_031949.4	genbank	human	validated	54_36p	missense	SNP	0.000	A
STX3	6809	genome.wustl.edu	37	11	59559689	59559689	+	Splice_Site	SNP	G	G	T			TCGA-AB-3007-03A-01D-0739-09	TCGA-AB-3007-11A-01D-0739-09	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	f6d05765-b161-480b-8613-b243e7a579a0	fff75bd4-e19f-4b6c-841d-12f05e25a817	g.chr11:59559689G>T	ENST00000337979.4	+	6	1013		c.e6+1		STX3_ENST00000300150.7_Splice_Site|STX3_ENST00000529177.1_Splice_Site|STX3_ENST00000437946.2_Splice_Site|STX3_ENST00000535361.1_Splice_Site	NM_001178040.1|NM_004177.4	NP_001171511.1|NP_004168.1	Q13277	STX3_HUMAN	syntaxin 3						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|long-term synaptic potentiation (GO:0060291)|membrane fusion (GO:0061025)|neuron projection development (GO:0031175)|neurotransmitter transport (GO:0006836)	apical plasma membrane (GO:0016324)|azurophil granule (GO:0042582)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|SNARE complex (GO:0031201)|specific granule (GO:0042581)|vacuole (GO:0005773)	arachidonic acid binding (GO:0050544)	p.?(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						CTCGAAATTAGTATGTACTTG	0.512																																						dbGAP											1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)	11											108.0	90.0	96.0					11																	59559689		2201	4295	6496	59316265	SO:0001630	splice_region_variant	0			AJ002076	CCDS7975.1, CCDS53637.1	11q12.1	2008-02-05	2006-04-25	2006-04-25	ENSG00000166900	ENSG00000166900			11438	protein-coding gene	gene with protein product		600876	"""syntaxin 3A"""	STX3A		16598260, 16339081	Standard	NM_004177		Approved		uc001nog.3	Q13277	OTTHUMG00000167353	ENST00000337979.4:c.466+1G>T	11.37:g.59559689G>T		Somatic	1497	0.00	0		0	100.00	3	WXS	Illumina HiSeq	Phase_IV	59316265	683	36.13	387	B4DME0|O43750|O43751|Q15360	Splice_Site	SNP	-	e6+1	ENST00000337979.4	37	c.466+1	CCDS7975.1	11	.	.	.	.	.	.	.	.	.	.	g	21.3	4.132824	0.77662	.	.	ENSG00000166900	ENST00000300150;ENST00000337979;ENST00000535361;ENST00000437946;ENST00000529177;ENST00000528805	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5317	0.87816	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	STX3	59316265	1.000000	0.71417	0.999000	0.59377	0.743000	0.42351	9.169000	0.94788	2.478000	0.83669	0.650000	0.86243	.	-	-		0.512	STX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STX3	protein_coding	OTTHUMT00000394264.1	G	NM_004177	Intron	59316265	+1	no_errors	NM_004177.3	genbank	human	provisional	54_36p	splice_site	SNP	1.000	T
POU6F1	5463	genome.wustl.edu	37	12	51590705	51590705	+	5'UTR	SNP	A	A	C			TCGA-AB-3007-03A-01D-0739-09	TCGA-AB-3007-11A-01D-0739-09	A	A	A	C	A	A	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	f6d05765-b161-480b-8613-b243e7a579a0	fff75bd4-e19f-4b6c-841d-12f05e25a817	g.chr12:51590705A>C	ENST00000389243.4	-	0	861				POU6F1_ENST00000333640.10_5'UTR|POU6F1_ENST00000550824.1_5'UTR			Q14863	PO6F1_HUMAN	POU class 6 homeobox 1						brain development (GO:0007420)|heart development (GO:0007507)|muscle organ development (GO:0007517)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						GGGAAGCAGCACTGATCTGTG	0.597																																						dbGAP											0			12											59.0	55.0	56.0					12																	51590705		692	1591	2283	49876972	SO:0001623	5_prime_UTR_variant	0			AL832881	CCDS31803.1	12q13.13	2011-06-20	2007-07-13			ENSG00000184271		"""Homeoboxes / POU class"""	9224	protein-coding gene	gene with protein product			"""POU domain, class 6, transcription factor 1"""			7908264	Standard	NM_002702		Approved	BRN5, MPOU, TCFB1	uc001rxz.3	Q14863		ENST00000389243.4:c.-79T>G	12.37:g.51590705A>C		Somatic	369	0.54	2		2	0.00	0	WXS	Illumina HiSeq	Phase_IV	49876972	296	34.87	159	Q15944|Q6DK47|Q7Z7P6	Missense_Mutation	SNP	HMMPfam_Pou,HMMSmart_SM00352,PatternScan_POU_1,PatternScan_POU_2,HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like,superfamily_lambda repressor-like DNA-binding domains	p.S253R	ENST00000389243.4	37	c.759	CCDS31803.1	12																																																																																			-	NULL		0.597	POU6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU6F1	protein_coding	OTTHUMT00000405126.1	A	NM_002702		49876972	-1	no_errors	ENST00000389243	ensembl	human	known	54_36p	missense	SNP	1.000	C
SLC12A1	6557	genome.wustl.edu	37	15	48539175	48539175	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-3007-03A-01D-0739-09	TCGA-AB-3007-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	f6d05765-b161-480b-8613-b243e7a579a0	fff75bd4-e19f-4b6c-841d-12f05e25a817	g.chr15:48539175G>A	ENST00000558405.1	+	11	1536	c.1522G>A	c.(1522-1524)Gcc>Acc	p.A508T	SLC12A1_ENST00000396577.3_Missense_Mutation_p.A508T|SLC12A1_ENST00000380993.3_Missense_Mutation_p.A508T			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	508					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)	p.A508T(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	ACTCTCCTCCGCCCTGGCCTC	0.502																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	15	GRCh37	CM981823	SLC12A1	M							242.0	221.0	228.0					15																	48539175		2198	4297	6495	46326467	SO:0001583	missense	0				CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"""Solute carriers"""	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.1522G>A	15.37:g.48539175G>A	ENSP00000453409:p.Ala508Thr	Somatic	1545	0.19	3		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	46326467	1033	23.88	326	A8JYA2|E9PDW4	Missense_Mutation	SNP	HMMPfam_AA_permease,HMMPfam_AA_permease_N	p.A508T	ENST00000558405.1	37	c.1522	CCDS10129.2	15	.	.	.	.	.	.	.	.	.	.	G	33	5.244992	0.95272	.	.	ENSG00000074803	ENST00000428362;ENST00000380993;ENST00000396577	D;D	0.99023	-5.34;-5.34	4.98	4.98	0.66077	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.99417	0.9794	M	0.90198	3.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98720	1.0708	10	0.87932	D	0	.	18.4428	0.90673	0.0:0.0:1.0:0.0	.	508;508	E9PDW4;Q13621	.;S12A1_HUMAN	T	321;508;508	ENSP00000370381:A508T;ENSP00000379822:A508T	ENSP00000370381:A508T	A	+	1	0	SLC12A1	46326467	1.000000	0.71417	0.972000	0.41901	0.979000	0.70002	9.652000	0.98499	2.582000	0.87167	0.655000	0.94253	GCC	-	HMMPfam_AA_permease		0.502	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC12A1	protein_coding	OTTHUMT00000417131.1	G			46326467	+1	no_errors	NM_000338.2	genbank	human	validated	54_36p	missense	SNP	0.998	A
G6PC	2538	genome.wustl.edu	37	17	41063001	41063001	+	Missense_Mutation	SNP	T	T	G			TCGA-AB-3007-03A-01D-0739-09	TCGA-AB-3007-11A-01D-0739-09	T	T	T	G	T	T	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	f6d05765-b161-480b-8613-b243e7a579a0	fff75bd4-e19f-4b6c-841d-12f05e25a817	g.chr17:41063001T>G	ENST00000253801.2	+	5	711	c.632T>G	c.(631-633)cTc>cGc	p.L211R	G6PC_ENST00000585489.1_3'UTR|G6PC_ENST00000592383.1_3'UTR	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	211			L -> P (in GSD1A). {ECO:0000269|PubMed:8733042}.		carbohydrate metabolic process (GO:0005975)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|hexose transport (GO:0008645)|multicellular organism growth (GO:0035264)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)|urate metabolic process (GO:0046415)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)|phosphate ion binding (GO:0042301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)	p.L211R(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		AAATATTTTCTCATTACCTTC	0.478																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	17	GRCh37	CM960673	G6PC	M							107.0	82.0	91.0					17																	41063001		2203	4300	6503	38316527	SO:0001583	missense	0			U01120	CCDS11446.1, CCDS59291.1	17q21	2014-09-17	2006-06-28			ENSG00000131482	3.1.3.9		4056	protein-coding gene	gene with protein product	"""glycogen storage disease type I, von Gierke disease"""	613742	"""glucose-6-phosphatase, catalytic (glycogen storage disease type I, von Gierke disease)"""	G6PT		7774924	Standard	NM_000151		Approved	GSD1a	uc002icb.2	P35575		ENST00000253801.2:c.632T>G	17.37:g.41063001T>G	ENSP00000253801:p.Leu211Arg	Somatic	1467	0.00	0		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	38316527	1322	37.43	792	A1L4C0|B4E1C3|K7EL82	Missense_Mutation	SNP	HMMPfam_PAP2,HMMSmart_acidPPc,superfamily_AcPase_VanPerase	p.L211R	ENST00000253801.2	37	c.632	CCDS11446.1	17	.	.	.	.	.	.	.	.	.	.	T	2.338	-0.351845	0.05173	.	.	ENSG00000131482	ENST00000253801	T	0.77489	-1.1	4.86	4.86	0.63082	.	0.583743	0.17957	N	0.156340	T	0.64516	0.2605	L	0.31926	0.97	0.40776	D	0.983139	B	0.23540	0.087	B	0.25614	0.062	T	0.60265	-0.7297	10	0.27082	T	0.32	.	6.0701	0.19885	0.1383:0.0:0.2199:0.6418	.	211	P35575	G6PC_HUMAN	R	211	ENSP00000253801:L211R	ENSP00000253801:L211R	L	+	2	0	G6PC	38316527	0.825000	0.29262	0.102000	0.21198	0.125000	0.20455	1.777000	0.38604	2.040000	0.60383	0.455000	0.32223	CTC	-	NULL		0.478	G6PC-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	G6PC	protein_coding	OTTHUMT00000452451.1	T	NM_000151		38316527	+1	no_errors	NM_000151.2	genbank	human	reviewed	54_36p	missense	SNP	0.741	G
CECR2	27443	genome.wustl.edu	37	22	18022686	18022686	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-3007-03A-01D-0739-09	TCGA-AB-3007-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	f6d05765-b161-480b-8613-b243e7a579a0	fff75bd4-e19f-4b6c-841d-12f05e25a817	g.chr22:18022686G>A	ENST00000400585.2	+	16	2803	c.2365G>A	c.(2365-2367)Gac>Aac	p.D789N	CECR2_ENST00000400573.5_Missense_Mutation_p.D930N|CECR2_ENST00000262608.8_Missense_Mutation_p.D931N			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	972					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)		p.D930N(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		GCCTGAGAATGACCAAGGTAA	0.493																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	22											37.0	39.0	39.0					22																	18022686		1929	4142	6071	16402686	SO:0001583	missense	0			AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.2365G>A	22.37:g.18022686G>A	ENSP00000383428:p.Asp789Asn	Somatic	356	0.56	2		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	16402686	352	33.96	181	A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	HMMPfam_Bromodomain,HMMSmart_BROMO,superfamily_Bromodomain,PatternScan_BROMODOMAIN_1	p.D930N	ENST00000400585.2	37	c.2788		22	.	.	.	.	.	.	.	.	.	.	G	2.066	-0.414282	0.04766	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.26660	1.85;1.86;1.72	4.88	3.86	0.44501	.	0.498279	0.18400	N	0.142396	T	0.12944	0.0314	N	0.22421	0.69	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.04013	0.0;0.001;0.001	T	0.26815	-1.0092	10	0.10902	T	0.67	-7.3281	5.4141	0.16363	0.1976:0.0:0.8024:0.0	.	972;789;930	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	N	789;930;931	ENSP00000383428:D789N;ENSP00000383417:D930N;ENSP00000262608:D931N	ENSP00000262608:D931N	D	+	1	0	CECR2	16402686	0.784000	0.28713	0.052000	0.19188	0.283000	0.27025	2.761000	0.47589	2.688000	0.91661	0.609000	0.83330	GAC	-	NULL		0.493	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	CECR2	protein_coding	OTTHUMT00000316226.2	G	NM_031413		16402686	+1	no_errors	ENST00000400585	ensembl	human	known	54_36p	missense	SNP	0.021	A
FLT3	2322	genome.wustl.edu	37	13	28608255	28608256	+	In_Frame_Ins	INS	-	-	ATCATATTCATATTCTCTGAA			TCGA-AB-3007-03A-01D-0739-09	TCGA-AB-3007-11A-01D-0739-09	-	-	-	ATCATATTCATATTCTCTGAA	-	-	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	f6d05765-b161-480b-8613-b243e7a579a0	fff75bd4-e19f-4b6c-841d-12f05e25a817	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	Somatic	NA	NA	NA		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	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
