#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
Unknown	0	genome.wustl.edu	37	Unknown	0	0	+	IGR	SNP	T	T	C			TCGA-AB-2802-03B-01W-0728-08	TCGA-AB-2802-11B-01W-0728-08	T	T	T	C	T	T	Verified	Invalid:failed_liftOver	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	18257c7e-ce2a-4dce-8bc0-db47ca8201a4	07284d3f-346f-473f-864e-5be1a95560ff	g.chrUnknown:0T>C								None (None upstream) : None (None downstream)																								0.0																																						dbGAP											0			MT																																								14767	SO:0001628	intergenic_variant	0																															Unknown.37:g.0T>C		Somatic	1696	2.53	44		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	14767	2088	19.04	498		Missense_Mutation	SNP	HMMPfam_Cytochrom_B_N,HMMPfam_Cytochrom_B_C,superfamily_Cytochrome_b/b6_C,superfamily_Transmembr_di-haem_cytochrome	p.I7T		37	c.20		MT																																																																																			-	superfamily_Transmembr_di-haem_cytochrome	0	0					MT-CYB			T			14767	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000361789	ensembl	human	known	54_36p	missense	SNP	NULL	C
TBX15	6913	genome.wustl.edu	37	1	119469161	119469161	+	Missense_Mutation	SNP	T	T	A	rs200689686		TCGA-AB-2802-03B-01W-0728-08	TCGA-AB-2802-11B-01W-0728-08	T	T	T	A	T	T	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	18257c7e-ce2a-4dce-8bc0-db47ca8201a4	07284d3f-346f-473f-864e-5be1a95560ff	g.chr1:119469161T>A	ENST00000369429.3	-	3	502	c.493A>T	c.(493-495)Att>Ttt	p.I165F	TBX15_ENST00000207157.3_Missense_Mutation_p.I59F			Q96SF7	TBX15_HUMAN	T-box 15	165					embryonic cranial skeleton morphogenesis (GO:0048701)	Tle3-Aes complex (GO:0070722)	RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		ACAGGCACAATGTCCATTGCT	0.408																																						dbGAP											0			1											174.0	143.0	154.0					1																	119469161		2203	4300	6503	119270684	SO:0001583	missense	0			AK127536	CCDS30816.1	1p11.1	2008-02-05	2004-10-05		ENSG00000092607	ENSG00000092607		"""T-boxes"""	11594	protein-coding gene	gene with protein product		604127	"""T-box 14"""	TBX14		9693034	Standard	XM_005271162		Approved		uc001ehl.1	Q96SF7	OTTHUMG00000012263	ENST00000369429.3:c.493A>T	1.37:g.119469161T>A	ENSP00000358437:p.Ile165Phe	Somatic	468	1.47	7		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	119270684	120	30.68	54	Q08E76|Q5JT54|Q5T9S7	Missense_Mutation	SNP	HMMPfam_T-box,HMMSmart_TBOX,superfamily_P53_like_DNA_bnd,PatternScan_TBOX_2,PatternScan_TBOX_1	p.I59F	ENST00000369429.3	37	c.175		1	.	.	.	.	.	.	.	.	.	.	T	31	5.101828	0.94245	.	.	ENSG00000092607	ENST00000207157;ENST00000369429	T;T	0.79845	-1.31;-1.31	5.92	5.92	0.95590	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.81721	0.4882	L	0.39085	1.19	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82220	-0.0565	10	0.40728	T	0.16	.	16.0339	0.80608	0.0:0.0:0.0:1.0	.	165	Q96SF7	TBX15_HUMAN	F	59;165	ENSP00000207157:I59F;ENSP00000358437:I165F	ENSP00000207157:I59F	I	-	1	0	TBX15	119270684	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	6.300000	0.72776	2.260000	0.74910	0.528000	0.53228	ATT	-	HMMPfam_T-box,HMMSmart_TBOX,superfamily_P53_like_DNA_bnd		0.408	TBX15-002	PUTATIVE	not_organism_supported|upstream_ATG|basic|appris_principal	protein_coding	TBX15	protein_coding	OTTHUMT00000034351.1	T	NM_152380		119270684	-1	no_errors	NM_152380.2	genbank	human	validated	54_36p	missense	SNP	1.000	A
TCHHL1	126637	genome.wustl.edu	37	1	152057522	152057522	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2802-03B-01W-0728-08	TCGA-AB-2802-11B-01W-0728-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	18257c7e-ce2a-4dce-8bc0-db47ca8201a4	07284d3f-346f-473f-864e-5be1a95560ff	g.chr1:152057522T>C	ENST00000368806.1	-	3	2700	c.2636A>G	c.(2635-2637)cAg>cGg	p.Q879R		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	879							calcium ion binding (GO:0005509)			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TTCCAAGGCCTGGGGAGCTGG	0.488																																						dbGAP											0			1											151.0	147.0	148.0					1																	152057522		2203	4300	6503	150324146	SO:0001583	missense	0				CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"""S100 calcium binding proteins"""	31796	protein-coding gene	gene with protein product			"""S100 calcium binding protein A17"""	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.2636A>G	1.37:g.152057522T>C	ENSP00000357796:p.Gln879Arg	Somatic	743	0.54	4		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	150324146	142	35.14	78	B2RPK8|Q5VTJ9	Missense_Mutation	SNP	PatternScan_S100_CABP,HMMPfam_S_100,superfamily_SSF47473	p.Q879R	ENST00000368806.1	37	c.2636	CCDS30857.1	1	.	.	.	.	.	.	.	.	.	.	.	13.99	2.401738	0.42613	.	.	ENSG00000182898	ENST00000368806	T	0.31510	1.49	4.56	3.39	0.38822	.	0.787419	0.10058	U	0.721265	T	0.20414	0.0491	L	0.34521	1.04	0.09310	N	1	D	0.76494	0.999	D	0.66084	0.941	T	0.10291	-1.0636	10	0.21540	T	0.41	-0.4624	7.0714	0.25181	0.0:0.1079:0.0:0.8921	.	879	Q5QJ38	TCHL1_HUMAN	R	879	ENSP00000357796:Q879R	ENSP00000357796:Q879R	Q	-	2	0	TCHHL1	150324146	0.004000	0.15560	0.089000	0.20774	0.089000	0.18198	0.506000	0.22658	0.579000	0.29504	0.482000	0.46254	CAG	-	NULL		0.488	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHHL1	protein_coding	OTTHUMT00000036638.2	T	XM_060104		150324146	-1	no_errors	NM_001008536.1	genbank	human	provisional	54_36p	missense	SNP	0.075	C
DNMT3A	1788	genome.wustl.edu	37	2	25457243	25457243	+	Missense_Mutation	SNP	G	G	A	rs377577594		TCGA-AB-2802-03B-01W-0728-08	TCGA-AB-2802-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	18257c7e-ce2a-4dce-8bc0-db47ca8201a4	07284d3f-346f-473f-864e-5be1a95560ff	g.chr2:25457243G>A	ENST00000264709.3	-	23	2981	c.2644C>T	c.(2644-2646)Cgc>Tgc	p.R882C	DNMT3A_ENST00000321117.5_Missense_Mutation_p.R882C|DNMT3A_ENST00000402667.1_Missense_Mutation_p.R659C|DNMT3A_ENST00000474887.1_5'Flank|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R693C	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	882	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.		R -> C (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.|R -> H (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.|R -> P (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.		C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.R882C(93)|p.R882S(8)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCGCCAAGCGGCTCATGTTG	0.597			"""Mis, F, N, S"""		AML																																	dbGAP		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	101	Substitution - Missense(101)	haematopoietic_and_lymphoid_tissue(101)	2						G	CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	55.0	50.0	52.0		2644,2077,2644	5.7	1.0	2		52	4,8596		0,4,4296	no	missense,missense,missense	DNMT3A	NM_022552.3,NM_153759.2,NM_175629.1	180,180,180	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	probably-damaging,probably-damaging,probably-damaging	882/913,693/724,882/913	25457243	4,13002	2203	4300	6503	25310747	SO:0001583	missense	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2644C>T	2.37:g.25457243G>A	ENSP00000264709:p.Arg882Cys	Somatic	152	0.00	0		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	25310747	42	28.33	17	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT	p.R882C	ENST00000264709.3	37	c.2644	CCDS33157.1	2	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224411	0.79576	0.0	4.65E-4	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.97186	-4.28;-4.28;-4.28;-4.28	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.98538	0.9512	M	0.87180	2.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.65573	0.936;0.685	D	0.99425	1.0934	10	0.87932	D	0	-8.768	18.4404	0.90665	0.0:0.0:1.0:0.0	.	882;693	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	C	693;882;882;659	ENSP00000370122:R693C;ENSP00000324375:R882C;ENSP00000264709:R882C;ENSP00000384237:R659C	ENSP00000264709:R882C	R	-	1	0	DNMT3A	25310747	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.864000	0.99589	2.698000	0.92095	0.561000	0.74099	CGC	-	superfamily_S-adenosyl-L-methionine-dependent methyltransferases		0.597	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	protein_coding	OTTHUMT00000211587.1	G	NM_022552		25310747	-1	no_errors	NM_022552.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
IDH1	3417	genome.wustl.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-AB-2802-03B-01W-0728-08	TCGA-AB-2802-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	18257c7e-ce2a-4dce-8bc0-db47ca8201a4	07284d3f-346f-473f-864e-5be1a95560ff	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	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.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(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)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	dbGAP		Dom	yes		2	2q33.3	3417	"""isocitrate dehydrogenase 1 (NADP+), soluble"""		O	2835	Substitution - Missense(2834)|Complex - compound substitution(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	2											79.0	73.0	75.0					2																	209113112		2203	4300	6503	208821357	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.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His	Somatic	71	0.00	0		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	208821357	55	41.05	39	Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like	p.R132H	ENST00000415913.1	37	c.395	CCDS2381.1	2	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT	-	HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IDH1	protein_coding	OTTHUMT00000336672.1	C			208821357	-1	no_errors	NM_005896.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
GRM7	2917	genome.wustl.edu	37	3	7503316	7503316	+	Silent	SNP	T	T	A	rs147301131		TCGA-AB-2802-03B-01W-0728-08	TCGA-AB-2802-11B-01W-0728-08	T	T	T	A	T	T	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	18257c7e-ce2a-4dce-8bc0-db47ca8201a4	07284d3f-346f-473f-864e-5be1a95560ff	g.chr3:7503316T>A	ENST00000357716.4	+	7	1696	c.1422T>A	c.(1420-1422)ccT>ccA	p.P474P	GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000402647.2_Silent_p.P474P|GRM7_ENST00000486284.1_Silent_p.P474P|GRM7_ENST00000403881.1_Silent_p.P474P|GRM7_ENST00000389336.4_Silent_p.P474P	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	474					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						GGGATGCACCTGGGCGTTATG	0.448																																						dbGAP											0			3											172.0	155.0	160.0					3																	7503316		2203	4300	6503	7478316	SO:0001819	synonymous_variant	0			U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.1422T>A	3.37:g.7503316T>A		Somatic	672	1.46	10		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	7478316	155	24.88	52	Q8NFS2|Q8NFS3|Q8NFS4	Silent	SNP	HMMPfam_ANF_receptor,HMMPfam_NCD3G,HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_1,PatternScan_G_PROTEIN_RECEP_F3_2,PatternScan_G_PROTEIN_RECEP_F3_3,superfamily_SSF53822	p.P474	ENST00000357716.4	37	c.1422	CCDS43042.1	3																																																																																			-	HMMPfam_ANF_receptor,superfamily_SSF53822		0.448	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM7	protein_coding	OTTHUMT00000246895.3	T	NM_000844		7478316	+1	no_errors	NM_181874.2	genbank	human	reviewed	54_36p	silent	SNP	0.995	A
ANKRD30A	91074	genome.wustl.edu	37	10	37455582	37455582	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2802-03B-01W-0728-08	TCGA-AB-2802-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	18257c7e-ce2a-4dce-8bc0-db47ca8201a4	07284d3f-346f-473f-864e-5be1a95560ff	g.chr10:37455582C>T	ENST00000374660.1	+	19	2045	c.1946C>T	c.(1945-1947)gCg>gTg	p.A649V	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A649V|ANKRD30A_ENST00000602533.1_Intron			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	586					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CCCAAGGCTGCGCATCAAAAA	0.303																																						dbGAP											0			10											3.0	3.0	3.0					10																	37455582		1391	3132	4523	37495588	SO:0001583	missense	0			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000374660.1:c.1946C>T	10.37:g.37455582C>T	ENSP00000363792:p.Ala649Val	Somatic	69	0.00	0		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	37495588	25	42.22	19	Q5W025	Missense_Mutation	SNP	PatternScan_ASP_PROTEASE,HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat	p.A649V	ENST00000374660.1	37	c.1946		10	.	.	.	.	.	.	.	.	.	.	.	6.215	0.407757	0.11754	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.04654	3.58;3.58	0.8	-0.265	0.12946	.	.	.	.	.	T	0.02455	0.0075	L	0.34521	1.04	0.09310	N	1	P	0.34587	0.458	B	0.22880	0.042	T	0.43988	-0.9357	9	0.09843	T	0.71	.	3.1703	0.06550	0.0:0.6545:0.0:0.3455	.	705	Q9BXX3	AN30A_HUMAN	V	649	ENSP00000354432:A649V;ENSP00000363792:A649V	ENSP00000354432:A649V	A	+	2	0	ANKRD30A	37495588	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	0.185000	0.16958	-0.082000	0.12640	0.384000	0.25694	GCG	-	NULL		0.303	ANKRD30A-002	PUTATIVE	NMD_exception|basic	protein_coding	ANKRD30A	protein_coding	OTTHUMT00000047589.2	C	NM_052997		37495588	+1	no_errors	NM_052997.2	genbank	human	validated	54_36p	missense	SNP	0.010	T
KRT74	121391	genome.wustl.edu	37	12	52964548	52964548	+	Silent	SNP	G	G	A			TCGA-AB-2802-03B-01W-0728-08	TCGA-AB-2802-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	18257c7e-ce2a-4dce-8bc0-db47ca8201a4	07284d3f-346f-473f-864e-5be1a95560ff	g.chr12:52964548G>A	ENST00000305620.2	-	5	960	c.913C>T	c.(913-915)Ctg>Ttg	p.L305L	KRT74_ENST00000549343.1_Silent_p.L305L	NM_175053.3	NP_778223.2	Q7RTS7	K2C74_HUMAN	keratin 74	305	Linker 12.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	keratin filament binding (GO:1990254)|structural molecule activity (GO:0005198)			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		TCAAGGTCCAGGTCCCGGTTG	0.562																																						dbGAP											0			12											127.0	96.0	107.0					12																	52964548		2203	4300	6503	51250815	SO:0001819	synonymous_variant	0			BK000977	CCDS8832.1	12q13.13	2013-06-25			ENSG00000170484	ENSG00000170484		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28929	protein-coding gene	gene with protein product		608248				12648212, 16831889	Standard	NM_175053		Approved	K6IRS4, KRT5C, KRT6IRS4	uc001sap.1	Q7RTS7	OTTHUMG00000169658	ENST00000305620.2:c.913C>T	12.37:g.52964548G>A		Somatic	249	1.58	4		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	51250815	60	27.71	23	B5MD61|Q86Y45	Silent	SNP	HMMPfam_Filament,PatternScan_IF	p.L305	ENST00000305620.2	37	c.913	CCDS8832.1	12																																																																																			-	HMMPfam_Filament		0.562	KRT74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT74	protein_coding	OTTHUMT00000405324.1	G	NM_175053		51250815	-1	no_errors	NM_175053.3	genbank	human	validated	54_36p	silent	SNP	0.958	A
PTPN11	5781	genome.wustl.edu	37	12	112888165	112888165	+	Missense_Mutation	SNP	G	G	A	rs397507508|rs397507510		TCGA-AB-2802-03B-01W-0728-08	TCGA-AB-2802-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	18257c7e-ce2a-4dce-8bc0-db47ca8201a4	07284d3f-346f-473f-864e-5be1a95560ff	g.chr12:112888165G>A	ENST00000351677.2	+	3	379	c.181G>A	c.(181-183)Gat>Aat	p.D61N	PTPN11_ENST00000392597.1_Missense_Mutation_p.D61N	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	61	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.		D -> G (in NS1). {ECO:0000269|PubMed:11704759, ECO:0000269|PubMed:11992261, ECO:0000269|PubMed:12161469, ECO:0000269|PubMed:12634870}.|D -> N (in NS1). {ECO:0000269|PubMed:11992261, ECO:0000269|PubMed:12634870}.|D -> V (in JMML; also in myelodysplastic syndrome). {ECO:0000269|PubMed:12717436}.|D -> Y (in JMML). {ECO:0000269|PubMed:12717436}.		abortive mitotic cell cycle (GO:0033277)|activation of MAPK activity (GO:0000187)|atrioventricular canal development (GO:0036302)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage checkpoint (GO:0000077)|ephrin receptor signaling pathway (GO:0048013)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|genitalia development (GO:0048806)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|multicellular organismal reproductive process (GO:0048609)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cortisol secretion (GO:0051463)|negative regulation of growth hormone secretion (GO:0060125)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ growth (GO:0035265)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of hormone secretion (GO:0046887)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of multicellular organism growth (GO:0040014)|regulation of protein export from nucleus (GO:0046825)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	insulin receptor binding (GO:0005158)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|SH3/SH2 adaptor activity (GO:0005070)	p.D61Y(29)|p.D61H(3)|p.D61N(2)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						GAACACTGGTGATTACTATGA	0.423			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome																													dbGAP		Dom	yes		12	12q24.1	5781	"""protein tyrosine phosphatase, non-receptor type 11"""	yes	L	34	Substitution - Missense(34)	haematopoietic_and_lymphoid_tissue(34)	12	GRCh37	CD055729|CM021127	PTPN11	D|M							143.0	134.0	137.0					12																	112888165		2203	4300	6503	111372548	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	D13540	CCDS9163.1, CCDS58280.1	12q24.1	2014-09-17	2008-07-31		ENSG00000179295	ENSG00000179295		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"", ""SH2 domain containing"""	9644	protein-coding gene	gene with protein product		176876	"""Noonan syndrome 1"""	NS1		7894486, 1280823	Standard	NM_080601		Approved	BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2	uc001ttx.3	Q06124	OTTHUMG00000134334	ENST00000351677.2:c.181G>A	12.37:g.112888165G>A	ENSP00000340944:p.Asp61Asn	Somatic	423	0.00	0		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	111372548	51	31.08	23	A8K1D9|Q96HD7	Missense_Mutation	SNP	HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMPfam_SH2,HMMSmart_SM00252,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II,superfamily_SH2 domain	p.D61N	ENST00000351677.2	37	c.181	CCDS9163.1	12	.	.	.	.	.	.	.	.	.	.	G	36	5.845003	0.97016	.	.	ENSG00000179295	ENST00000392597;ENST00000351677;ENST00000392596	D;D	0.96300	-3.97;-3.97	5.9	5.9	0.94986	.	0.046067	0.85682	D	0.000000	D	0.97090	0.9049	L	0.39020	1.185	0.80722	D	1	D;D	0.71674	0.995;0.998	D;D	0.75484	0.976;0.986	D	0.97277	0.9915	10	0.56958	D	0.05	.	20.2787	0.98501	0.0:0.0:1.0:0.0	.	61;61	Q06124-2;Q06124-3	.;.	N	61	ENSP00000376376:D61N;ENSP00000340944:D61N	ENSP00000340944:D61N	D	+	1	0	PTPN11	111372548	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.860000	0.99555	2.798000	0.96311	0.650000	0.86243	GAT	-	HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain		0.423	PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN11	protein_coding	OTTHUMT00000259496.2	G			111372548	+1	no_errors	NM_002834.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
EP400	57634	genome.wustl.edu	37	12	132466885	132466885	+	Silent	SNP	G	G	A			TCGA-AB-2802-03B-01W-0728-08	TCGA-AB-2802-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	18257c7e-ce2a-4dce-8bc0-db47ca8201a4	07284d3f-346f-473f-864e-5be1a95560ff	g.chr12:132466885G>A	ENST00000333577.4	+	6	2008	c.1899G>A	c.(1897-1899)caG>caA	p.Q633Q	EP400_ENST00000389561.2_Silent_p.Q597Q|EP400_ENST00000389562.2_Silent_p.Q596Q|EP400_ENST00000330386.6_Silent_p.Q597Q|EP400_ENST00000332482.4_Silent_p.Q560Q			Q96L91	EP400_HUMAN	E1A binding protein p400	633					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TGAAGACTCAGCAGCCCAATG	0.637																																						dbGAP											0			12											128.0	114.0	119.0					12																	132466885		2203	4300	6503	131032838	SO:0001819	synonymous_variant	0			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.1899G>A	12.37:g.132466885G>A		Somatic	209	0.48	1		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	131032838	44	34.33	23	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	HMMPfam_SNF2_N,HMMPfam_Helicase_C,HMMSmart_HELICc,HMMPfam_HSA,superfamily_Homeodomain_like,HMMSmart_HSA,HMMSmart_DEXDc,superfamily_SSF52540	p.Q596	ENST00000333577.4	37	c.1788		12																																																																																			-	NULL		0.637	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	EP400	protein_coding		G	NM_015409		131032838	+1	no_errors	NM_015409.3	genbank	human	validated	54_36p	silent	SNP	0.985	A
RP11-815J4.6	0	genome.wustl.edu	37	18	12076175	12076175	+	RNA	SNP	A	A	G			TCGA-AB-2802-03B-01W-0728-08	TCGA-AB-2802-11B-01W-0728-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	18257c7e-ce2a-4dce-8bc0-db47ca8201a4	07284d3f-346f-473f-864e-5be1a95560ff	g.chr18:12076175A>G	ENST00000591780.1	-	0	420																											CGAAAGGTTTAGCCGAGCCAG	0.393																																						dbGAP											0			18																																								12066175			0																															18.37:g.12076175A>G		Somatic	127	1.55	2		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	12066175	18	26.92	7		RNA	SNP	-	NULL	ENST00000591780.1	37	NULL		18																																																																																			-	-		0.393	RP11-815J4.6-002	KNOWN	basic	processed_transcript	LOC728211	pseudogene	OTTHUMT00000452539.1	A			12066175	-1	pseudogene	XR_015403.2	genbank	human	model	54_36p	rna	SNP	0.973	G
C20orf24	55969	genome.wustl.edu	37	20	35240439	35240439	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2802-03B-01W-0728-08	TCGA-AB-2802-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	18257c7e-ce2a-4dce-8bc0-db47ca8201a4	07284d3f-346f-473f-864e-5be1a95560ff	g.chr20:35240439C>T	ENST00000373852.5	+	4	538	c.403C>T	c.(403-405)Cat>Tat	p.H135Y	C20orf24_ENST00000342422.3_Missense_Mutation_p.P82L|C20orf24_ENST00000344795.3_Silent_p.A125A|TGIF2-C20orf24_ENST00000558530.1_Silent_p.A151A			Q9BUV8	CT024_HUMAN	chromosome 20 open reading frame 24	135				LFMVCVADSFTTGHLDHLLHCHPL -> IVHGHLLLLFTSH PYSMMVSDSK (in Ref. 6; AAB50849). {ECO:0000305}.						breast(1)|kidney(1)|lung(2)	4	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				TTTACACTGCCATCCATTATG	0.478																																						dbGAP											0			20											273.0	257.0	262.0					20																	35240439		2203	4300	6503	34673853	SO:0001583	missense	0			AF112213	CCDS13279.1, CCDS13280.1, CCDS56190.1	20q11.23	2011-01-25			ENSG00000101084	ENSG00000101084			15870	protein-coding gene	gene with protein product						15178406	Standard	NM_018840		Approved	PNAS-11, RIP5		Q9BUV8	OTTHUMG00000032384	ENST00000373852.5:c.403C>T	20.37:g.35240439C>T	ENSP00000362958:p.His135Tyr	Somatic	375	0.79	3		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	34673853	32	34.00	17	E1P5U0|O00605|Q5QPG6|Q5QPG7|Q9BT03|Q9BZU7|Q9UI05	Missense_Mutation	SNP	HMMPfam_Rab5ip	p.P82L	ENST00000373852.5	37	c.245	CCDS56190.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.49|13.49	2.254166|2.254166	0.39896|0.39896	.|.	.|.	ENSG00000101084|ENSG00000101084	ENST00000373852|ENST00000342422	.|.	.|.	.|.	6.04|6.04	4.1|4.1	0.47936|0.47936	.|.	.|0.209727	.|0.30879	.|N	.|0.008697	T|T	0.20577|0.20577	0.0495|0.0495	.|.	.|.	.|.	0.29824|0.29824	N|N	0.830595|0.830595	B|B	0.02656|0.15141	0.0|0.012	B|B	0.01281|0.12156	0.0|0.007	T|T	0.16335|0.16335	-1.0406|-1.0406	7|8	0.59425|0.11182	D|T	0.04|0.66	-17.2898|-17.2898	6.293|6.293	0.21071|0.21071	0.1475:0.6966:0.0:0.1559|0.1475:0.6966:0.0:0.1559	.|.	135|82	Q9BUV8|Q5QPG6	CT024_HUMAN|.	Y|L	135|82	.|.	ENSP00000362958:H135Y|ENSP00000341213:P82L	H|P	+|+	1|2	0|0	C20orf24|C20orf24	34673853|34673853	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.862000|0.862000	0.49288|0.49288	0.789000|0.789000	0.26886|0.26886	1.568000|1.568000	0.49683|0.49683	0.561000|0.561000	0.74099|0.74099	CAT|CCA	-	HMMPfam_Rab5ip		0.478	C20orf24-001	KNOWN	basic|CCDS	protein_coding	C20orf24	protein_coding	OTTHUMT00000079006.1	C	NM_018840		34673853	+1	no_errors	NM_199483.2	genbank	human	validated	54_36p	missense	SNP	0.994	T
Unknown	0	genome.wustl.edu	37	Unknown	0	0	+	IGR	DEL	C	C	-			TCGA-AB-2802-03B-01W-0728-08	TCGA-AB-2802-11B-01W-0728-08	C	C	C	-	C	C	Verified	Invalid:failed_liftOver	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	18257c7e-ce2a-4dce-8bc0-db47ca8201a4	07284d3f-346f-473f-864e-5be1a95560ff	g.chrUnknown:0delC								None (None upstream) : None (None downstream)																								0.0																																						dbGAP											0			MT																																								13059	SO:0001628	intergenic_variant	0																															Unknown.37:g.0delC		Somatic	623	0.64	4		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	13059	682	21.33	193		Frame_Shift_Del	DEL	HMMPfam_Oxidored_q1_N,HMMPfam_Oxidored_q1,HMMPfam_NADH5_C	p.P242fs		37	c.722		MT																																																																																			-	HMMPfam_Oxidored_q1	0	0					MT-ND5			C			13059	+1	no_errors	ENST00000361567	ensembl	human	known	54_36p	frame_shift_del	DEL	NULL	-
NPM1	4869	genome.wustl.edu	37	5	170834736	170834737	+	Frame_Shift_Ins	INS	-	-	GAGGAGG			TCGA-AB-2802-03B-01W-0728-08	TCGA-AB-2802-11B-01W-0728-08	-	-	-	GAGGAGG	-	-	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	18257c7e-ce2a-4dce-8bc0-db47ca8201a4	07284d3f-346f-473f-864e-5be1a95560ff	g.chr5:170834736_170834737insGAGGAGG	ENST00000296930.5	+	10	1105_1106	c.804_805insGAGGAGG	c.(805-807)atcfs	p.I269fs	NPM1_ENST00000517671.1_Frame_Shift_Ins_p.I269fs|NPM1_ENST00000351986.6_Frame_Shift_Ins_p.I240fs	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	269	Required for nucleolar localization.				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.I269fs*7(3)|p.I269fs*13(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)			AAGCCAAATTCATCAATTATGT	0.351			"""T, F """	"""ALK, RARA, MLF1"""	"""NHL, APL, AML"""																																	dbGAP		Dom	yes		5	5q35	4869	"""nucleophosmin (nucleolar phosphoprotein B23, numatrin)"""		L	4	Insertion - Frameshift(4)	haematopoietic_and_lymphoid_tissue(4)	5																																								170767342	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	Exception_encountered	5.37:g.170834736_170834737insGAGGAGG	ENSP00000296930:p.Ile269fs	Somatic	NA	NA	NA		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	170767341	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.I268fs	ENST00000296930.5	37	c.804_805	CCDS4376.1	5																																																																																			-	NULL		0.351	NPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPM1	protein_coding	OTTHUMT00000252858.2	-	NM_002520		170767342	+1	no_errors	NM_002520.1	genbank	human	validated	54_36p	frame_shift_ins	INS	0.998:1.000	GAGGAGG
NPM1	4869	genome.wustl.edu	37	5	170834737	170834738	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AB-2802-03B-01W-0728-08	TCGA-AB-2802-11B-01W-0728-08	-	-	-	T	-	-	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	18257c7e-ce2a-4dce-8bc0-db47ca8201a4	07284d3f-346f-473f-864e-5be1a95560ff	g.chr5:170834737_170834738insT	ENST00000296930.5	+	10	1106_1107	c.805_806insT	c.(805-807)atcfs	p.I269fs	NPM1_ENST00000517671.1_Frame_Shift_Ins_p.I269fs|NPM1_ENST00000351986.6_Frame_Shift_Ins_p.I240fs	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	269	Required for nucleolar localization.				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.I269fs*7(4)|p.I269fs*13(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)			AGCCAAATTCATCAATTATGTG	0.356			"""T, F """	"""ALK, RARA, MLF1"""	"""NHL, APL, AML"""																																	dbGAP		Dom	yes		5	5q35	4869	"""nucleophosmin (nucleolar phosphoprotein B23, numatrin)"""		L	5	Insertion - Frameshift(4)|Complex - frameshift(1)	haematopoietic_and_lymphoid_tissue(5)	5																																								170767343	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.806dupT	5.37:g.170834738_170834738dupT	ENSP00000296930:p.Ile269fs	Somatic	163	0.00	0		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	170767342	49	0.00	0	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.N270fs	ENST00000296930.5	37	c.805_806	CCDS4376.1	5																																																																																			-	NULL		0.356	NPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPM1	protein_coding	OTTHUMT00000252858.2	-	NM_002520		170767343	+1	no_errors	NM_002520.1	genbank	human	validated	54_36p	frame_shift_ins	INS	1.000:1.000	T
