#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
AMOT	154796	genome.wustl.edu	37	X	112058654	112058654	+	Missense_Mutation	SNP	A	A	T			TCGA-AB-2992-03A-01D-0739-09	TCGA-AB-2992-11A-01D-0739-09	A	A	A	T	A	A	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	4465a0df-868c-46ee-9087-c39f64ffd3ca	844d8005-5ba1-4480-b5b2-939b59f155c7	g.chrX:112058654A>T	ENST00000524145.1	-	3	1398	c.1324T>A	c.(1324-1326)Tca>Aca	p.S442T	AMOT_ENST00000371959.3_Missense_Mutation_p.S442T|AMOT_ENST00000371962.1_Missense_Mutation_p.S210T|AMOT_ENST00000371958.1_Missense_Mutation_p.S210T|AMOT_ENST00000304758.1_Missense_Mutation_p.S33T			Q4VCS5	AMOT_HUMAN	angiomotin	442					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)	p.S33T(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						TTCTCGTCTGAGAGGATCTCA	0.527																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	X											215.0	192.0	200.0					X																	112058654		2203	4300	6503	111945310	SO:0001583	missense	0			AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.1324T>A	X.37:g.112058654A>T	ENSP00000429013:p.Ser442Thr	Somatic	1815	0.82	15		1	0.00	0	WXS	Illumina HiSeq	Phase_IV	111945310	926	33.97	477	Q504X5|Q9HD27|Q9UPT1	Missense_Mutation	SNP	NULL	p.S33T	ENST00000524145.1	37	c.97	CCDS48154.1	X	.	.	.	.	.	.	.	.	.	.	A	11.80	1.747521	0.30955	.	.	ENSG00000126016	ENST00000304758;ENST00000371959;ENST00000371962;ENST00000524145;ENST00000371958	T;T;T;T;T	0.38722	1.12;2.57;2.57;2.57;2.57	5.31	4.12	0.48240	.	0.207714	0.43416	D	0.000571	T	0.26593	0.0650	L	0.28556	0.865	0.41022	D	0.98508	B	0.09022	0.002	B	0.04013	0.001	T	0.06320	-1.0833	10	0.08381	T	0.77	-7.56	9.9842	0.41832	0.8465:0.0:0.0:0.1535	.	442	Q4VCS5	AMOT_HUMAN	T	33;442;210;442;210	ENSP00000305557:S33T;ENSP00000361027:S442T;ENSP00000361030:S210T;ENSP00000429013:S442T;ENSP00000361026:S210T	ENSP00000305557:S33T	S	-	1	0	AMOT	111945310	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	3.224000	0.51238	0.802000	0.34089	0.486000	0.48141	TCA	-	NULL		0.527	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AMOT	protein_coding	OTTHUMT00000378570.1	A	NM_133265		111945310	-1	no_errors	NM_133265.1	genbank	human	reviewed	54_36p	missense	SNP	0.996	T
IDH1	3417	genome.wustl.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-AB-2992-03A-01D-0739-09	TCGA-AB-2992-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	4465a0df-868c-46ee-9087-c39f64ffd3ca	844d8005-5ba1-4480-b5b2-939b59f155c7	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	dbGAP		Dom	yes		2	2q33.3	3417	"""isocitrate dehydrogenase 1 (NADP+), soluble"""		O	679	Substitution - Missense(678)|Complex - compound substitution(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	2											81.0	74.0	76.0					2																	209113113		2203	4300	6503	208821358	SO:0001583	missense	0				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>T	2.37:g.209113113G>A	ENSP00000390265:p.Arg132Cys	Somatic	1083	1.28	14		49	53.33	56	WXS	Illumina HiSeq	Phase_IV	208821358	429	31.47	197	Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like	p.R132C	ENST00000415913.1	37	c.394	CCDS2381.1	2	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550898	0.86127	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.94049	0.8093	H	0.99379	4.54	0.80722	D	1	B	0.29862	0.259	B	0.31245	0.126	D	0.94048	0.7315	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	C	132	ENSP00000260985:R132C;ENSP00000410513:R132C;ENSP00000390265:R132C;ENSP00000391075:R132C	ENSP00000260985:R132C	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT	-	HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IDH1	protein_coding	OTTHUMT00000336672.1	G			208821358	-1	no_errors	NM_005896.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
RPL9	6133	genome.wustl.edu	37	4	39459259	39459259	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2992-03A-01D-0739-09	TCGA-AB-2992-11A-01D-0739-09	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	4465a0df-868c-46ee-9087-c39f64ffd3ca	844d8005-5ba1-4480-b5b2-939b59f155c7	g.chr4:39459259T>C	ENST00000449470.2	-	3	653	c.205A>G	c.(205-207)Acc>Gcc	p.T69A	LIAS_ENST00000340169.2_5'Flank|LIAS_ENST00000261434.3_5'Flank|LIAS_ENST00000381846.1_5'Flank|LIAS_ENST00000513731.1_5'Flank|RPL9_ENST00000295955.9_Missense_Mutation_p.T69A	NM_001024921.2	NP_001020092.1	P32969	RL9_HUMAN	ribosomal protein L9	69					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribosome (GO:0005840)	RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)	p.T69A(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|skin(1)	8						GTCCGAACGGTAGCCAGTTCC	0.418																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	4											99.0	94.0	96.0					4																	39459259		2203	4298	6501	39135654	SO:0001583	missense	0			D14531	CCDS3452.1	4p13	2011-04-06			ENSG00000163682	ENSG00000163682		"""L ribosomal proteins"""	10369	protein-coding gene	gene with protein product		603686				8597601, 8415001	Standard	XM_005262661		Approved	L9	uc021sso.1	P32969	OTTHUMG00000099367	ENST00000449470.2:c.205A>G	4.37:g.39459259T>C	ENSP00000400467:p.Thr69Ala	Somatic	487	3.36	17		18	41.94	13	WXS	Illumina HiSeq	Phase_IV	39135654	205	30.27	89		Missense_Mutation	SNP	PatternScan_RIBOSOMAL_L6_2,HMMPfam_Ribosomal_L6,superfamily_Ribosomal protein L6	p.T69A	ENST00000449470.2	37	c.205	CCDS3452.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.25|11.25	1.583505|1.583505	0.28268|0.28268	.|.	.|.	ENSG00000163682|ENSG00000163682	ENST00000295955;ENST00000449470;ENST00000394452;ENST00000503040;ENST00000504470|ENST00000508595;ENST00000506581	.|.	.|.	.|.	5.48|5.48	5.48|5.48	0.80851|0.80851	Ribosomal protein L6, alpha-beta domain (3);|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|T	0.49047|0.49047	0.1534|0.1534	N|N	0.16862|0.16862	0.45|0.45	0.80722|0.80722	D|D	1|1	B;B|.	0.13145|.	0.007;0.0|.	B;B|.	0.18561|.	0.022;0.006|.	T|T	0.46062|0.46062	-0.9218|-0.9218	9|5	0.02654|.	T|.	1|.	.|.	14.7492|14.7492	0.69513|0.69513	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	69;69|.	B4DLV8;P32969|.	.;RL9_HUMAN|.	A|C	69|65;15	.|.	ENSP00000346022:T69A|.	T|Y	-|-	1|2	0|0	RPL9|RPL9	39135654|39135654	1.000000|1.000000	0.71417|0.71417	0.627000|0.627000	0.29227|0.29227	0.982000|0.982000	0.71751|0.71751	6.185000|6.185000	0.72013|0.72013	2.071000|2.071000	0.62044|0.62044	0.459000|0.459000	0.35465|0.35465	ACC|TAC	-	HMMPfam_Ribosomal_L6,superfamily_Ribosomal protein L6		0.418	RPL9-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RPL9	protein_coding	OTTHUMT00000361018.1	T			39135654	-1	no_errors	NM_000661.4	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
PARP2	10038	genome.wustl.edu	37	14	20818769	20818769	+	Nonsense_Mutation	SNP	A	A	T			TCGA-AB-2992-03A-01D-0739-09	TCGA-AB-2992-11A-01D-0739-09	A	A	A	T	A	A	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	4465a0df-868c-46ee-9087-c39f64ffd3ca	844d8005-5ba1-4480-b5b2-939b59f155c7	g.chr14:20818769A>T	ENST00000250416.5	+	5	475	c.448A>T	c.(448-450)Aga>Tga	p.R150*	PARP2_ENST00000429687.3_Nonsense_Mutation_p.R137*|PARP2_ENST00000527915.1_Nonsense_Mutation_p.R150*	NM_001042618.1|NM_005484.3	NP_001036083.1|NP_005475.2	Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	150					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway (GO:0097191)|protein ADP-ribosylation (GO:0006471)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.R150*(1)|p.R101*(1)		central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		TGTTTGGATGAGATGGGGCCG	0.403								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														dbGAP											2	Substitution - Nonsense(2)	haematopoietic_and_lymphoid_tissue(2)	14											148.0	133.0	138.0					14																	20818769		1872	4114	5986	19888609	SO:0001587	stop_gained	0			AF085734	CCDS41910.1, CCDS45077.1	14q11.2-q12	2010-02-16	2008-07-28	2004-08-26	ENSG00000129484	ENSG00000129484		"""Poly (ADP-ribose) polymerases"""	272	protein-coding gene	gene with protein product		607725	"""ADP-ribosyltransferase (NAD+; poly(ADP-ribose) polymerase)-like 2"", ""poly (ADP-ribose) polymerase family, member 2"""	ADPRTL2		10329013, 18353725	Standard	NM_005484		Approved		uc001vxc.3	Q9UGN5	OTTHUMG00000166106	ENST00000250416.5:c.448A>T	14.37:g.20818769A>T	ENSP00000250416:p.Arg150*	Somatic	1825	1.78	33		23	4.17	1	WXS	Illumina HiSeq	Phase_IV	19888609	675	33.14	336	Q8TEU4|Q9NUV2|Q9UMR4|Q9Y6C8	Nonsense_Mutation	SNP	HMMPfam_PARP_reg,superfamily_Domain of poly(ADP-ribose) polymerase,PatternScan_CPSASE_2,HMMPfam_WGR,HMMSmart_SM00773,HMMPfam_PARP,PatternScan_CASPASE_HIS,superfamily_ADP-ribosylation	p.R150*	ENST00000250416.5	37	c.448	CCDS41910.1	14	.	.	.	.	.	.	.	.	.	.	A	37	6.368722	0.97511	.	.	ENSG00000129484	ENST00000429687;ENST00000250416;ENST00000527915	.	.	.	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.0428	9.7962	0.40737	0.7154:0.2846:0.0:0.0	.	.	.	.	X	137;150;150	.	ENSP00000250416:R150X	R	+	1	2	PARP2	19888609	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.123000	0.41996	2.210000	0.71456	0.533000	0.62120	AGA	-	HMMPfam_WGR,HMMSmart_SM00773		0.403	PARP2-002	KNOWN	basic|CCDS	protein_coding	PARP2	protein_coding	OTTHUMT00000387847.2	A			19888609	+1	no_errors	NM_005484.1	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	T
AGBL1	123624	genome.wustl.edu	37	15	86790957	86790957	+	Silent	SNP	G	G	T			TCGA-AB-2992-03A-01D-0739-09	TCGA-AB-2992-11A-01D-0739-09	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	4465a0df-868c-46ee-9087-c39f64ffd3ca	844d8005-5ba1-4480-b5b2-939b59f155c7	g.chr15:86790957G>T	ENST00000441037.2	+	6	539	c.444G>T	c.(442-444)ctG>ctT	p.L148L	AGBL1_ENST00000421325.2_Silent_p.L148L	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	148					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.L148L(1)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TGCTCGGGCTGCACCAGGACT	0.627																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	15											27.0	29.0	29.0					15																	86790957		2150	4259	6409	84591961	SO:0001819	synonymous_variant	0			AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.444G>T	15.37:g.86790957G>T		Somatic	1386	2.05	29		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	84591961	659	30.27	287	A1A4X5|A6NJH6|C9JHL5	Silent	SNP	HMMPfam_Peptidase_M14,superfamily_ARM repeat,superfamily_Zn-dependent exopeptidases	p.L148	ENST00000441037.2	37	c.444	CCDS58398.1	15																																																																																			-	superfamily_ARM repeat		0.627	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	AGBL1	protein_coding	OTTHUMT00000314929.5	G	NM_152336		84591961	+1	no_errors	NM_152336.2	genbank	human	validated	54_36p	silent	SNP	0.993	T
MPND	84954	genome.wustl.edu	37	19	4354113	4354113	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2992-03A-01D-0739-09	TCGA-AB-2992-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	4465a0df-868c-46ee-9087-c39f64ffd3ca	844d8005-5ba1-4480-b5b2-939b59f155c7	g.chr19:4354113C>T	ENST00000262966.8	+	5	803	c.736C>T	c.(736-738)Cgc>Tgc	p.R246C	AC007292.4_ENST00000594776.1_RNA|AC007292.3_ENST00000593524.1_RNA|MPND_ENST00000359935.4_Missense_Mutation_p.R246C|MPND_ENST00000599840.1_Missense_Mutation_p.R246C	NM_032868.4	NP_116257.2	Q8N594	MPND_HUMAN	MPN domain containing	246							peptidase activity (GO:0008233)	p.R246C(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGGGCAGCCGCGACTTGGC	0.647																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	19											30.0	33.0	32.0					19																	4354113		1951	4144	6095	4305113	SO:0001583	missense	0				CCDS42470.1, CCDS54200.1, CCDS74261.1	19p13.3	2014-08-12			ENSG00000008382				25934	protein-coding gene	gene with protein product							Standard	XM_005259663		Approved	FLJ14981	uc002mae.3	Q8N594	OTTHUMG00000181914	ENST00000262966.8:c.736C>T	19.37:g.4354113C>T	ENSP00000262966:p.Arg246Cys	Somatic	1609	2.13	35		26	7.14	2	WXS	Illumina HiSeq	Phase_IV	4305113	157	39.62	103	Q96SJ0|Q9Y2P1|Q9Y2P2	Missense_Mutation	SNP	HMMPfam_Mov34,superfamily_JAB1/MPN domain	p.R246C	ENST00000262966.8	37	c.736	CCDS42470.1	19	.	.	.	.	.	.	.	.	.	.	c	13.90	2.375086	0.42105	.	.	ENSG00000008382	ENST00000262966;ENST00000359935	T;T	0.80480	-1.38;-1.38	5.03	5.03	0.67393	.	0.054046	0.64402	D	0.000001	D	0.83834	0.5340	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;P;D	0.65874	0.939;0.855;0.91	D	0.85507	0.1195	10	0.87932	D	0	-21.5555	14.1996	0.65693	0.0:1.0:0.0:0.0	.	246;246;246	Q8N594-2;A6NI36;Q8N594	.;.;MPND_HUMAN	C	246	ENSP00000262966:R246C;ENSP00000353015:R246C	ENSP00000262966:R246C	R	+	1	0	MPND	4305113	1.000000	0.71417	0.850000	0.33497	0.071000	0.16799	1.900000	0.39828	2.505000	0.84491	0.550000	0.68814	CGC	-	NULL		0.647	MPND-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MPND	protein_coding	OTTHUMT00000458292.1	C	NM_032868		4305113	+1	no_errors	NM_032868.3	genbank	human	provisional	54_36p	missense	SNP	1.000	T
KLK7	5650	genome.wustl.edu	37	19	51480908	51480908	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AB-2992-03A-01D-0739-09	TCGA-AB-2992-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	4465a0df-868c-46ee-9087-c39f64ffd3ca	844d8005-5ba1-4480-b5b2-939b59f155c7	g.chr19:51480908G>A	ENST00000391807.1	-	6	747	c.646C>T	c.(646-648)Caa>Taa	p.Q216*	CTB-147C22.9_ENST00000594512.1_RNA|KLK7_ENST00000597707.1_Nonsense_Mutation_p.Q144*|KLK7_ENST00000336317.4_Nonsense_Mutation_p.Q103*|KLK7_ENST00000595820.1_Nonsense_Mutation_p.Q216*	NM_139277.2	NP_644806.1	P49862	KLK7_HUMAN	kallikrein-related peptidase 7	216	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.Q216*(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)		ACCAGACCTTGCAGGGTACCT	0.517																																						dbGAP											1	Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(1)	19											119.0	104.0	109.0					19																	51480908		2203	4300	6503	56172720	SO:0001587	stop_gained	0			L33404	CCDS12812.1, CCDS59414.1	19q13.33	2011-09-07	2006-10-27			ENSG00000169035		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6368	protein-coding gene	gene with protein product		604438	"""kallikrein 7 (chymotryptic, stratum corneum)"""	PRSS6		8034709, 16800724, 16800723	Standard	NM_005046		Approved	SCCE	uc021uyj.1	P49862		ENST00000391807.1:c.646C>T	19.37:g.51480908G>A	ENSP00000375683:p.Gln216*	Somatic	224	3.45	8		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	56172720	118	38.22	73	A8K0U5|Q8N5N9|Q8NFV7	Nonsense_Mutation	SNP	HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER	p.Q216*	ENST00000391807.1	37	c.646	CCDS12812.1	19	.	.	.	.	.	.	.	.	.	.	g	39	7.528652	0.98339	.	.	ENSG00000169035	ENST00000304045;ENST00000391807;ENST00000336317	.	.	.	5.14	2.87	0.33458	.	0.270547	0.19487	U	0.113089	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	5.8316	0.18584	0.1813:0.1615:0.6572:0.0	.	.	.	.	X	216;216;103	.	ENSP00000304791:Q216X	Q	-	1	0	KLK7	56172720	1.000000	0.71417	0.947000	0.38551	0.988000	0.76386	3.720000	0.54933	1.324000	0.45282	0.448000	0.29417	CAA	-	HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases		0.517	KLK7-202	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK7	protein_coding	OTTHUMT00000464344.1	G	NM_005046		56172720	-1	no_errors	NM_005046.2	genbank	human	reviewed	54_36p	nonsense	SNP	0.616	A
SLC24A3	57419	genome.wustl.edu	37	20	19662539	19662539	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2992-03A-01D-0739-09	TCGA-AB-2992-11A-01D-0739-09	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	4465a0df-868c-46ee-9087-c39f64ffd3ca	844d8005-5ba1-4480-b5b2-939b59f155c7	g.chr20:19662539A>G	ENST00000328041.6	+	10	1002	c.805A>G	c.(805-807)Aca>Gca	p.T269A		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	269					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)	p.T269A(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGAGAGGAGGACAAAAGGTGC	0.473																																						dbGAP											2	Substitution - Missense(2)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	20											147.0	128.0	134.0					20																	19662539		2203	4300	6503	19610539	SO:0001583	missense	0			AF169257	CCDS13140.1	20p13	2013-05-22			ENSG00000185052	ENSG00000185052		"""Solute carriers"""	10977	protein-coding gene	gene with protein product		609839					Standard	NM_020689		Approved		uc002wrl.3	Q9HC58	OTTHUMG00000031993	ENST00000328041.6:c.805A>G	20.37:g.19662539A>G	ENSP00000333519:p.Thr269Ala	Somatic	2254	0.79	18		3	25.00	1	WXS	Illumina HiSeq	Phase_IV	19610539	398	33.00	196	B1AKV7|Q9BQJ9|Q9BQL7|Q9BQY3|Q9H519	Missense_Mutation	SNP	HMMPfam_Na_Ca_ex	p.T269A	ENST00000328041.6	37	c.805	CCDS13140.1	20	.	.	.	.	.	.	.	.	.	.	A	11.91	1.779992	0.31502	.	.	ENSG00000185052	ENST00000328041	T	0.61040	0.14	5.06	5.06	0.68205	.	0.101187	0.64402	D	0.000003	T	0.45115	0.1326	L	0.29908	0.895	0.44500	D	0.997444	B	0.09022	0.002	B	0.09377	0.004	T	0.32719	-0.9896	9	.	.	.	.	14.7795	0.69754	1.0:0.0:0.0:0.0	.	269	Q9HC58	NCKX3_HUMAN	A	269	ENSP00000333519:T269A	.	T	+	1	0	SLC24A3	19610539	1.000000	0.71417	0.881000	0.34555	0.891000	0.51852	4.027000	0.57239	2.030000	0.59900	0.402000	0.26972	ACA	-	NULL		0.473	SLC24A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC24A3	protein_coding	OTTHUMT00000078207.4	A	NM_020689		19610539	+1	no_errors	NM_020689.3	genbank	human	validated	54_36p	missense	SNP	0.998	G
NPM1	4869	genome.wustl.edu	37	5	170837547	170837548	+	Frame_Shift_Ins	INS	-	-	TCTG			TCGA-AB-2992-03A-01D-0739-09	TCGA-AB-2992-11A-01D-0739-09	-	-	-	TCTG	-	-	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	4465a0df-868c-46ee-9087-c39f64ffd3ca	844d8005-5ba1-4480-b5b2-939b59f155c7	g.chr5:170837547_170837548insTCTG	ENST00000296930.5	+	11	1164_1165	c.863_864insTCTG	c.(862-867)tggcagfs	p.WQ288fs	NPM1_ENST00000517671.1_Frame_Shift_Ins_p.WQ288fs|NPM1_ENST00000351986.6_Frame_Shift_Ins_p.WQ259fs	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	288	Required for nucleolar localization.			WQWRKSL -> CLAVEEVSLRK (in Ref. 6; AAW67752/AAW67755). {ECO:0000305}.|WQWRKSL -> CMAVEEVSLRK (in Ref. 6; AAW67753 and 7; ABC40399). {ECO:0000305}.|WQWRKSL -> CVAVEEVSLRK (in Ref. 6; AAW67754). {ECO:0000305}.	cell aging (GO:0007569)|CENP-A containing nucleosome assembly (GO:0034080)|centrosome cycle (GO:0007098)|DNA repair (GO:0006281)|intracellular protein transport (GO:0006886)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of centrosome duplication (GO:0010826)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of translation (GO:0045727)|protein localization (GO:0008104)|protein oligomerization (GO:0051259)|regulation of centriole replication (GO:0046599)|regulation of eIF2 alpha phosphorylation by dsRNA (GO:0060735)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of endoribonuclease activity (GO:0060699)|response to stress (GO:0006950)|ribosome assembly (GO:0042255)|signal transduction (GO:0007165)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle pole centrosome (GO:0031616)	histone binding (GO:0042393)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|unfolded protein binding (GO:0051082)	p.W288fs*12(2114)|p.W288fs*10(9)|p.Q289fs*11(3)|p.W288*(1)	NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAAGATCTCTGGCAGTGGAGGA	0.312			"""T, F """	"""ALK, RARA, MLF1"""	"""NHL, APL, AML"""																																	dbGAP		Dom	yes		5	5q35	4869	"""nucleophosmin (nucleolar phosphoprotein B23, numatrin)"""		L	2127	Insertion - Frameshift(2118)|Complex - frameshift(8)|Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(2127)	5																																								170770153	SO:0001589	frameshift_variant	0			M26697	CCDS4376.1, CCDS4377.1, CCDS43399.1	5q35.1	2014-09-17			ENSG00000181163	ENSG00000181163			7910	protein-coding gene	gene with protein product	"""nucleolar phosphoprotein B23"", ""numatrin"", ""nucleophosmin/nucleoplasmin family, member 1"""	164040				8471164, 8122112	Standard	NM_002520		Approved	B23, NPM	uc003mbi.3	P06748	OTTHUMG00000130465	ENST00000296930.5:c.860_863dupTCTG	5.37:g.170837544_170837547dupTCTG	ENSP00000296930:p.Trp288fs	Somatic	NA	NA	NA		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	170770152	NA	NA	NA	A8K3N7|B5BU00|D3DQL6|P08693|Q12826|Q13440|Q13441|Q14115|Q5EU94|Q5EU95|Q5EU96|Q5EU97|Q5EU98|Q5EU99|Q6V962|Q8WTW5|Q96AT6|Q96DC4|Q96EA5|Q9BYG9|Q9UDJ7	Frame_Shift_Ins	INS	HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain	p.W288fs	ENST00000296930.5	37	c.863_864	CCDS4376.1	5																																																																																			-	NULL		0.312	NPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPM1	protein_coding	OTTHUMT00000252858.2	-	NM_002520		170770153	+1	no_errors	NM_002520.1	genbank	human	validated	54_36p	frame_shift_ins	INS	1.000:1.000	TCTG
