#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
NYX	60506	genome.wustl.edu	37	X	41334035	41334035	+	Silent	SNP	C	C	T			TCGA-AB-2998-03A-01D-0739-09	TCGA-AB-2998-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	9aae9f69-be50-4c20-b084-a5fdc939a7df	86091afe-5087-48c5-8511-ed4320df0d01	g.chrX:41334035C>T	ENST00000342595.2	+	2	1785	c.1329C>T	c.(1327-1329)tcC>tcT	p.S443S	NYX_ENST00000378220.1_Silent_p.S443S	NM_022567.2	NP_072089.1	Q9GZU5	NYX_HUMAN	nyctalopin	443					response to stimulus (GO:0050896)|visual perception (GO:0007601)	intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)		p.S443S(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(11)|upper_aerodigestive_tract(1)	17						CCTCCCTGTCCGACAGCCTCT	0.701																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	X											8.0	9.0	8.0					X																	41334035		2136	4159	6295	41218979	SO:0001819	synonymous_variant	0			AF254868	CCDS14256.1	Xp11.4	2014-01-28			ENSG00000188937	ENSG00000188937			8082	protein-coding gene	gene with protein product		300278		CSNB1, CSNB4		11062471, 11062472	Standard	NM_022567		Approved	CLRP, CSNB1A	uc004dfh.2	Q9GZU5	OTTHUMG00000021370	ENST00000342595.2:c.1329C>T	X.37:g.41334035C>T		134	1.46	2		NA	NA	NA	41218979	103	47.74	95	D3DWC0|Q2M1S4|Q5H983|Q9H4J0	Silent	SNP	HMMPfam_LRRNT,HMMSmart_LRRNT,HMMSmart_LRRCT,HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_SSF52058	p.S443	ENST00000342595.2	37	c.1329	CCDS14256.1	X																																																																																			-	NULL		0.701	NYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NYX	protein_coding	OTTHUMT00000056256.1	C	NM_022567		41218979	+1	no_errors	NM_022567.2	genbank	human	reviewed	54_36p	silent	SNP	0.000	T
FLG	2312	genome.wustl.edu	37	1	152281734	152281734	+	Silent	SNP	G	G	A	rs138772997	byFrequency	TCGA-AB-2998-03A-01D-0739-09	TCGA-AB-2998-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	9aae9f69-be50-4c20-b084-a5fdc939a7df	86091afe-5087-48c5-8511-ed4320df0d01	g.chr1:152281734G>A	ENST00000368799.1	-	3	5663	c.5628C>T	c.(5626-5628)gaC>gaT	p.D1876D	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1876	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.D1876D(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCTGGAGCCGTCTCCTGATT	0.582									Ichthyosis				G|||	21	0.00419329	0.0144	0.0029	5008	,	,		19536	0.0		0.0	False		,,,				2504	0.0					dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	1						G		65,4341	61.1+/-98.1	0,65,2138	303.0	302.0	303.0		5628	-1.1	0.0	1	dbSNP_134	303	2,8598	1.2+/-3.3	0,2,4298	no	coding-synonymous	FLG	NM_002016.1		0,67,6436	AA,AG,GG		0.0233,1.4753,0.5151		1876/4062	152281734	67,12939	2203	4300	6503	150548358	SO:0001819	synonymous_variant	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5628C>T	1.37:g.152281734G>A		360	0.28	1		NA	NA	NA	150548358	288	46.58	252	Q01720|Q5T583|Q9UC71	Silent	SNP	PatternScan_S100_CABP,HMMPfam_Filaggrin,HMMPfam_S_100,PatternScan_EF_HAND_1,superfamily_SSF47473	p.D1876	ENST00000368799.1	37	c.5628	CCDS30860.1	1																																																																																			-	HMMPfam_Filaggrin		0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	protein_coding	OTTHUMT00000033742.1	G	NM_002016		150548358	-1	no_errors	NM_002016.1	genbank	human	provisional	54_36p	silent	SNP	0.000	A
BRINP3	339479	genome.wustl.edu	37	1	190067294	190067294	+	Missense_Mutation	SNP	G	G	A	rs367715031		TCGA-AB-2998-03A-01D-0739-09	TCGA-AB-2998-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	9aae9f69-be50-4c20-b084-a5fdc939a7df	86091afe-5087-48c5-8511-ed4320df0d01	g.chr1:190067294G>A	ENST00000367462.3	-	8	2386	c.2155C>T	c.(2155-2157)Cgt>Tgt	p.R719C	BRINP3_ENST00000534846.1_Missense_Mutation_p.R617C	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	719					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.R719C(1)									TCTAGACGACGCTGACCAGGT	0.488																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	1						G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	108.0	103.0	104.0		2155	5.7	1.0	1		104	0,8600		0,0,4300	no	missense	FAM5C	NM_199051.1	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	719/767	190067294	1,13005	2203	4300	6503	188333917	SO:0001583	missense	0			AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.2155C>T	1.37:g.190067294G>A	ENSP00000356432:p.Arg719Cys	1122	0.36	4		NA	NA	NA	188333917	692	47.70	633	B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	HMMPfam_MACPF,HMMSmart_SM00457	p.R719C	ENST00000367462.3	37	c.2155	CCDS1373.1	1	.	.	.	.	.	.	.	.	.	.	G	19.51	3.841797	0.71488	2.27E-4	0.0	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.18502	2.48;2.21	5.72	5.72	0.89469	.	0.060620	0.64402	D	0.000002	T	0.16041	0.0386	N	0.14661	0.345	0.80722	D	1	D;D	0.67145	0.996;0.958	P;B	0.47573	0.55;0.248	T	0.01914	-1.1248	10	0.48119	T	0.1	.	17.3704	0.87376	0.0:0.0:1.0:0.0	.	617;719	B7Z260;Q76B58	.;FAM5C_HUMAN	C	719;617	ENSP00000356432:R719C;ENSP00000438022:R617C	ENSP00000356432:R719C	R	-	1	0	FAM5C	188333917	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.884000	0.87274	2.695000	0.91970	0.650000	0.86243	CGT	-	NULL		0.488	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM5C	protein_coding	OTTHUMT00000086278.1	G	NM_199051		188333917	-1	no_errors	NM_199051.1	genbank	human	provisional	54_36p	missense	SNP	1.000	A
PCDHGA9	56107	genome.wustl.edu	37	5	140782843	140782843	+	Silent	SNP	C	C	T			TCGA-AB-2998-03A-01D-0739-09	TCGA-AB-2998-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	9aae9f69-be50-4c20-b084-a5fdc939a7df	86091afe-5087-48c5-8511-ed4320df0d01	g.chr5:140782843C>T	ENST00000573521.1	+	1	324	c.324C>T	c.(322-324)gtC>gtT	p.V108V	PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	108	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTTTAAAGTCCTGGTTGAAG	0.517																																						dbGAP											0			5											60.0	65.0	64.0					5																	140782843		1954	4165	6119	140763027	SO:0001819	synonymous_variant	0			AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.324C>T	5.37:g.140782843C>T		236	0.42	1		NA	NA	NA	140763027	214	35.74	119	A2RU65|Q9Y5C9	Silent	SNP	HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like	p.V108	ENST00000573521.1	37	c.324	CCDS58981.1	5																																																																																			-	HMMSmart_SM00112,HMMPfam_Cadherin_2,superfamily_Cadherin-like		0.517	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA9	protein_coding	OTTHUMT00000437105.1	C	NM_018921		140763027	+1	no_errors	NM_018921.2	genbank	human	reviewed	54_36p	silent	SNP	0.000	T
SLC37A2	219855	genome.wustl.edu	37	11	124955556	124955556	+	Missense_Mutation	SNP	G	G	A	rs200333736		TCGA-AB-2998-03A-01D-0739-09	TCGA-AB-2998-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	9aae9f69-be50-4c20-b084-a5fdc939a7df	86091afe-5087-48c5-8511-ed4320df0d01	g.chr11:124955556G>A	ENST00000403796.2	+	16	1712	c.1411G>A	c.(1411-1413)Gtc>Atc	p.V471I	SLC37A2_ENST00000298280.5_3'UTR|SLC37A2_ENST00000525837.1_3'UTR|SLC37A2_ENST00000308074.4_Missense_Mutation_p.V471I|SLC37A2_ENST00000407458.1_Missense_Mutation_p.V471I	NM_001145290.1	NP_001138762.1	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 2	471					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.V471I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	27	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		CTCTGCCGACGTCCTAGCCTG	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		20448	0.001		0.0	False		,,,				2504	0.0				Melanoma(11;373 620 21213 26083 47768)	dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	11											70.0	64.0	66.0					11																	124955556		2201	4299	6500	124460766	SO:0001583	missense	0			AK074100	CCDS31714.1, CCDS44757.1	11q24.2	2013-07-17	2013-07-17		ENSG00000134955	ENSG00000134955		"""Solute carriers"""	20644	protein-coding gene	gene with protein product			"""solute carrier family 37 (glycerol-3-phosphate transporter), member 2"""				Standard	NM_198277		Approved	FLJ00171	uc010sau.2	Q8TED4	OTTHUMG00000165879	ENST00000403796.2:c.1411G>A	11.37:g.124955556G>A	ENSP00000384407:p.Val471Ile	529	0.38	2		2	50.00	2	124460766	433	48.08	401	A8K2P9|Q6P599|Q7Z7P8|Q8TEM2	Missense_Mutation	SNP	HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter	p.V471I	ENST00000403796.2	37	c.1411	CCDS44757.1	11	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	3.920	-0.018375	0.07681	.	.	ENSG00000134955	ENST00000403796;ENST00000407458;ENST00000308074	T;T;T	0.59224	0.28;0.28;0.28	4.86	-9.72	0.00515	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.920680	0.09222	N	0.831770	T	0.35480	0.0933	N	0.16066	0.365	0.29006	N	0.887173	B;B;B	0.12013	0.002;0.005;0.001	B;B;B	0.08055	0.003;0.003;0.003	T	0.47071	-0.9145	10	0.08381	T	0.77	-15.3846	21.8983	0.99963	0.1933:0.0:0.8067:0.0	.	96;471;471	B7Z480;Q8TED4-2;Q8TED4	.;.;SPX2_HUMAN	I	471	ENSP00000384407:V471I;ENSP00000385126:V471I;ENSP00000311833:V471I	ENSP00000311833:V471I	V	+	1	0	SLC37A2	124460766	0.000000	0.05858	0.001000	0.08648	0.842000	0.47809	-1.934000	0.01552	-2.156000	0.00790	-0.345000	0.07892	GTC	-	superfamily_MFS_gen_substrate_transporter		0.582	SLC37A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC37A2	protein_coding	OTTHUMT00000386837.1	G	XM_166184		124460766	+1	no_errors	NM_198277.1	genbank	human	validated	54_36p	missense	SNP	0.020	A
PA2G4	5036	genome.wustl.edu	37	12	56501002	56501002	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2998-03A-01D-0739-09	TCGA-AB-2998-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	9aae9f69-be50-4c20-b084-a5fdc939a7df	86091afe-5087-48c5-8511-ed4320df0d01	g.chr12:56501002G>A	ENST00000303305.6	+	4	774	c.355G>A	c.(355-357)Gct>Act	p.A119T	RP11-603J24.9_ENST00000548861.1_Missense_Mutation_p.A100T|RP11-603J24.17_ENST00000548595.1_RNA|PA2G4_ENST00000552766.1_Missense_Mutation_p.A119T	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	119					cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of translation (GO:0006417)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)	p.A119T(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			TGGCTTCATCGCTAATGTAGC	0.443																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	12											247.0	222.0	231.0					12																	56501002		2203	4300	6503	54787269	SO:0001583	missense	0			U59435, BC007561	CCDS8902.1	12q13.2	2008-09-05	2002-08-29		ENSG00000170515	ENSG00000170515			8550	protein-coding gene	gene with protein product		602145	"""proliferation-associated 2G4, 38kD"""			9345902	Standard	NM_006191		Approved		uc001sjm.3	Q9UQ80	OTTHUMG00000170173	ENST00000303305.6:c.355G>A	12.37:g.56501002G>A	ENSP00000302886:p.Ala119Thr	577	2.04	12		52	53.98	61	54787269	411	47.44	371	O43846|Q9UM59	Missense_Mutation	SNP	HMMPfam_Peptidase_M24,superfamily_Peptidase_M24_cat_core,PatternScan_MAP_2,superfamily_SSF46785	p.A119T	ENST00000303305.6	37	c.355	CCDS8902.1	12	.	.	.	.	.	.	.	.	.	.	G	17.06	3.291524	0.59976	.	.	ENSG00000257411;ENSG00000170515;ENSG00000170515;ENSG00000170515;ENSG00000170515;ENSG00000170515;ENSG00000170515	ENST00000548861;ENST00000303305;ENST00000552766;ENST00000417031;ENST00000546435;ENST00000548711;ENST00000553057	T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17	4.8	4.8	0.61643	Peptidase M24, structural domain (3);	0.160006	0.56097	D	0.000029	T	0.73690	0.3619	L	0.45228	1.405	0.80722	D	1	B;B;B	0.33777	0.015;0.371;0.425	B;B;B	0.40228	0.005;0.137;0.323	T	0.73369	-0.4004	10	0.42905	T	0.14	.	12.4581	0.55716	0.0:0.0:0.8319:0.1681	.	119;119;119	F8VRZ3;F8VTY8;Q9UQ80	.;.;PA2G4_HUMAN	T	100;119;119;148;119;119;108	ENSP00000449770:A100T;ENSP00000302886:A119T;ENSP00000448557:A119T;ENSP00000447615:A108T	ENSP00000302886:A119T	A	+	1	0	PA2G4;RP11-603J24.9	54787269	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	4.841000	0.62824	2.486000	0.83907	0.655000	0.94253	GCT	-	HMMPfam_Peptidase_M24,superfamily_Peptidase_M24_cat_core,PatternScan_MAP_2		0.443	PA2G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PA2G4	protein_coding	OTTHUMT00000407767.1	G	NM_006191		54787269	+1	no_errors	NM_006191.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
HERC1	8925	genome.wustl.edu	37	15	63966558	63966558	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2998-03A-01D-0739-09	TCGA-AB-2998-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	9aae9f69-be50-4c20-b084-a5fdc939a7df	86091afe-5087-48c5-8511-ed4320df0d01	g.chr15:63966558C>T	ENST00000443617.2	-	38	7916	c.7829G>A	c.(7828-7830)gGg>gAg	p.G2610E	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2610					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.G2610E(2)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						AATTTTGCCCCCAAACTGGTC	0.378																																						dbGAP											2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(2)	15											58.0	55.0	56.0					15																	63966558		1843	4094	5937	61753611	SO:0001583	missense	0			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.7829G>A	15.37:g.63966558C>T	ENSP00000390158:p.Gly2610Glu	1160	0.77	9		26	35.00	14	61753611	661	46.49	576	Q8IW65	Missense_Mutation	SNP	HMMPfam_RCC1,PatternScan_RCC1_2,HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00320,HMMPfam_SPRY,PatternScan_ARGINASE_2,PatternScan_PHOSPHOPANTETHEINE,superfamily_RCC1/BLIP-II,superfamily_WD40 repeat-like,HMMSmart_SM00449,PatternScan_WD_REPEATS_1,HMMPfam_WD40	p.G2610E	ENST00000443617.2	37	c.7829	CCDS45277.1	15	.	.	.	.	.	.	.	.	.	.	C	15.48	2.846572	0.51164	.	.	ENSG00000103657	ENST00000443617	T	0.25085	1.82	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.21509	0.0518	N	0.14661	0.345	0.80722	D	1	P	0.47106	0.89	B	0.43889	0.435	T	0.01697	-1.1293	10	0.30078	T	0.28	.	20.1991	0.98252	0.0:1.0:0.0:0.0	.	2610	Q15751	HERC1_HUMAN	E	2610	ENSP00000390158:G2610E	ENSP00000390158:G2610E	G	-	2	0	HERC1	61753611	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.052000	0.71080	2.775000	0.95449	0.650000	0.86243	GGG	-	NULL		0.378	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	protein_coding	OTTHUMT00000418523.1	C	NM_003922		61753611	-1	no_errors	NM_003922.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
PLIN1	5346	genome.wustl.edu	37	15	90209105	90209105	+	Silent	SNP	G	G	T	rs371827110		TCGA-AB-2998-03A-01D-0739-09	TCGA-AB-2998-11A-01D-0739-09	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	9aae9f69-be50-4c20-b084-a5fdc939a7df	86091afe-5087-48c5-8511-ed4320df0d01	g.chr15:90209105G>T	ENST00000300055.5	-	9	1443	c.1278C>A	c.(1276-1278)gtC>gtA	p.V426V	PLIN1_ENST00000430628.2_Silent_p.V426V	NM_002666.4	NP_002657.3	O60240	PLIN1_HUMAN	perilipin 1	426					lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|lipid particle (GO:0005811)	lipid binding (GO:0008289)	p.V426V(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(2)	13						CCCGGCGCTCGACCTCGGCTG	0.756																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	15											4.0	4.0	4.0					15																	90209105		1486	3009	4495	88010109	SO:0001819	synonymous_variant	0			AB005293	CCDS10353.1	15q26	2009-08-12	2009-08-12	2009-08-12	ENSG00000166819	ENSG00000166819		"""Perilipins"""	9076	protein-coding gene	gene with protein product		170290	"""perilipin"""	PLIN		9521880, 19638644	Standard	NM_002666		Approved		uc010upx.1	O60240	OTTHUMG00000149813	ENST00000300055.5:c.1278C>A	15.37:g.90209105G>T		185	2.12	4		NA	NA	NA	88010109	127	48.37	119	Q8N5Y6	Silent	SNP	HMMPfam_Perilipin	p.V426	ENST00000300055.5	37	c.1278	CCDS10353.1	15																																																																																			-	NULL		0.756	PLIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLIN	protein_coding	OTTHUMT00000313424.2	G	NM_002666		88010109	-1	no_errors	NM_002666.1	genbank	human	reviewed	54_36p	silent	SNP	0.001	T
PKD1L2	114780	genome.wustl.edu	37	16	81241125	81241125	+	RNA	SNP	G	G	A	rs367547497		TCGA-AB-2998-03A-01D-0739-09	TCGA-AB-2998-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	9aae9f69-be50-4c20-b084-a5fdc939a7df	86091afe-5087-48c5-8511-ed4320df0d01	g.chr16:81241125G>A	ENST00000525539.1	-	0	875				PKD1L2_ENST00000337114.4_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)	p.D292D(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AAGTGTGGCTGTCTCCTGTAC	0.463																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	16											113.0	115.0	114.0					16																	81241125		1934	4133	6067	79798626			0			AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81241125G>A		679	0.29	2		NA	NA	NA	79798626	425	41.30	299	Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Silent	SNP	HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like	p.D292	ENST00000525539.1	37	c.876		16																																																																																			-	NULL		0.463	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	PKD1L2	polymorphic_pseudogene	OTTHUMT00000387972.2	G			79798626	-1	no_errors	NM_001076780.1	genbank	human	reviewed	54_36p	silent	SNP	0.997	A
FLT3	2322	genome.wustl.edu	37	13	28608255	28608256	+	In_Frame_Ins	INS	-	-	ATCATATTCATATTCTCTGAA			TCGA-AB-2998-03A-01D-0739-09	TCGA-AB-2998-11A-01D-0739-09	-	-	-	ATCATATTCATATTCTCTGAA	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	9aae9f69-be50-4c20-b084-a5fdc939a7df	86091afe-5087-48c5-8511-ed4320df0d01	g.chr13:28608255_28608256insATCATATTCATATTCTCTGAA	ENST00000241453.7	-	14	1881_1882	c.1800_1801insTTCAGAGAATATGAATATGAT	c.(1798-1803)gatctc>gatTTCAGAGAATATGAATATGATctc	p.599_600insDFREYEY	FLT3_ENST00000537084.1_In_Frame_Ins_p.599_600insDFREYEY|FLT3_ENST00000380982.4_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
