#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	G	G	A			TCGA-AB-2936-03A-01W-0745-08	TCGA-AB-2936-11A-01W-0745-08	G	G	G	A	G	G	Verified	Invalid:failed_liftOver	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	0194977a-f658-4a23-8913-4a4797b16698	b592578a-da5c-4b13-9938-ec6c13f7ec50	g.chrUnknown:0G>A								None (None upstream) : None (None downstream)																								0.0																																						dbGAP											0			MT																																								9554	SO:0001628	intergenic_variant	0																															Unknown.37:g.0G>A		Somatic	6797	1.27	88		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	9554	321	20.30	82		Nonsense_Mutation	SNP	HMMPfam_COX3,superfamily_CytC_oxdse_III	p.W116*		37	c.347		MT																																																																																			-	HMMPfam_COX3,superfamily_CytC_oxdse_III	0	0					MT-CO3			G			9554	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000362079	ensembl	human	known	54_36p	nonsense	SNP	NULL	A
TCEAL6	158931	genome.wustl.edu	37	X	101396081	101396081	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AB-2936-03A-01W-0745-08	TCGA-AB-2936-11A-01W-0745-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	0194977a-f658-4a23-8913-4a4797b16698	b592578a-da5c-4b13-9938-ec6c13f7ec50	g.chrX:101396081C>A	ENST00000372774.3	-	3	472	c.223G>T	c.(223-225)Gag>Tag	p.E75*	TCEAL6_ENST00000372773.1_Nonsense_Mutation_p.E75*	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	75	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						GGCTTGCCCTCACCTTCGGAC	0.627																																						dbGAP											0			X											111.0	101.0	105.0					X																	101396081		2203	4300	6503	101282737	SO:0001587	stop_gained	0			BC071675	CCDS43978.1	Xq22.1	2014-03-21			ENSG00000204071	ENSG00000204071			24553	protein-coding gene	gene with protein product						16221301	Standard	NM_001006938		Approved	WEX2	uc004eiq.3	Q6IPX3	OTTHUMG00000022050	ENST00000372774.3:c.223G>T	X.37:g.101396081C>A	ENSP00000361860:p.Glu75*	Somatic	339	2.86	10		1	0.00	0	WXS	Illumina HiSeq	Phase_IV	101282737	82	42.36	61	Q5H9J8	Nonsense_Mutation	SNP	HMMPfam_TFA	p.E75*	ENST00000372774.3	37	c.223	CCDS43978.1	X	.	.	.	.	.	.	.	.	.	.	C	37	6.165800	0.97338	.	.	ENSG00000204071	ENST00000372774;ENST00000372773;ENST00000536102	.	.	.	2.65	1.77	0.24775	.	0.425816	0.17371	N	0.176698	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	8.7335	0.34514	0.0:0.7683:0.2317:0.0	.	.	.	.	X	75	.	ENSP00000361859:E75X	E	-	1	0	TCEAL6	101282737	0.000000	0.05858	0.001000	0.08648	0.746000	0.42486	0.491000	0.22419	0.519000	0.28406	0.468000	0.43344	GAG	-	HMMPfam_TFA		0.627	TCEAL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEAL6	protein_coding	OTTHUMT00000057609.1	C	NM_001006938		101282737	-1	no_errors	NM_001006938.2	genbank	human	validated	54_36p	nonsense	SNP	0.009	A
NXF2B	728343	genome.wustl.edu	37	X	101624925	101624925	+	Silent	SNP	G	G	A			TCGA-AB-2936-03A-01W-0745-08	TCGA-AB-2936-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	0194977a-f658-4a23-8913-4a4797b16698	b592578a-da5c-4b13-9938-ec6c13f7ec50	g.chrX:101624925G>A	ENST00000372750.1	-	8	991	c.192C>T	c.(190-192)agC>agT	p.S64S	NXF2B_ENST00000457521.2_Silent_p.S64S|NXF2B_ENST00000372752.1_5'UTR|NXF2B_ENST00000412230.2_Silent_p.S64S|NXF2B_ENST00000372749.1_Silent_p.S64S			Q9GZY0	NXF2_HUMAN	nuclear RNA export factor 2B	64					mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|kidney(1)|lung(4)|ovary(1)	7						TCATCTCCACGCTTCCATCAT	0.532																																						dbGAP											0			X											13.0	12.0	12.0					X																	101624925		734	1678	2412	101511581	SO:0001819	synonymous_variant	0				CCDS43979.1	Xq22.1	2013-05-14			ENSG00000185945	ENSG00000269437			23984	protein-coding gene	gene with protein product						16382448	Standard	NM_001099686		Approved	bA353J17.1		Q9GZY0	OTTHUMG00000154920	ENST00000372750.1:c.192C>T	X.37:g.101624925G>A		Somatic	186	0.53	1		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	101511581	11	42.11	8	Q9BXU4|Q9NSS1|Q9NX66	Silent	SNP	HMMPfam_NTF2,HMMPfam_TAP_C,HMMSmart_TAP_C,superfamily_UBA_like,HMMPfam_Tap-RNA_bind,superfamily_SSF52058,superfamily_SSF54427,superfamily_SSF54928	p.S64	ENST00000372750.1	37	c.192	CCDS43979.1	X																																																																																			-	NULL		0.532	NXF2B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	NXF2B	protein_coding	OTTHUMT00000058979.1	G			101511581	-1	no_errors	NM_001099686.1	genbank	human	inferred	54_36p	silent	SNP	0.000	A
WDR64	128025	genome.wustl.edu	37	1	241912982	241912982	+	Silent	SNP	G	G	C			TCGA-AB-2936-03A-01W-0745-08	TCGA-AB-2936-11A-01W-0745-08	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	0194977a-f658-4a23-8913-4a4797b16698	b592578a-da5c-4b13-9938-ec6c13f7ec50	g.chr1:241912982G>C	ENST00000366552.2	+	13	1905	c.1698G>C	c.(1696-1698)ctG>ctC	p.L566L	WDR64_ENST00000437684.2_Silent_p.L566L	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	566										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			ACCAGCAGCTGGTCCTGGCCT	0.507																																						dbGAP											0			1											135.0	133.0	134.0					1																	241912982		2203	4300	6503	239979605	SO:0001819	synonymous_variant	0			AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"""WD repeat domain containing"""	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.1698G>C	1.37:g.241912982G>C		Somatic	856	0.81	7		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	239979605	82	41.43	58	B1ANT0|Q7Z573|Q96LY9	Silent	SNP	HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40	p.L286	ENST00000366552.2	37	c.858		1	.	.	.	.	.	.	.	.	.	.	G	0.048	-1.258393	0.01445	.	.	ENSG00000162843	ENST00000425826	.	.	.	6.06	0.689	0.18033	.	.	.	.	.	T	0.31167	0.0788	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	T	0.25502	-1.0130	4	.	.	.	-1.744	6.6105	0.22749	0.2101:0.3772:0.4127:0.0	.	.	.	.	S	45	.	.	W	+	2	0	WDR64	239979605	0.000000	0.05858	0.030000	0.17652	0.070000	0.16714	-0.029000	0.12329	0.107000	0.17824	0.655000	0.94253	TGG	-	superfamily_WD40 repeat-like		0.507	WDR64-201	KNOWN	basic|appris_principal	protein_coding	WDR64	protein_coding		G	NM_144625		239979605	+1	no_errors	NM_144625.3	genbank	human	validated	54_36p	silent	SNP	0.030	C
CAMK4	814	genome.wustl.edu	37	5	110710562	110710562	+	Silent	SNP	C	C	T	rs201866448		TCGA-AB-2936-03A-01W-0745-08	TCGA-AB-2936-11A-01W-0745-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	0194977a-f658-4a23-8913-4a4797b16698	b592578a-da5c-4b13-9938-ec6c13f7ec50	g.chr5:110710562C>T	ENST00000282356.4	+	3	653	c.255C>T	c.(253-255)atC>atT	p.I85I	CAMK4_ENST00000512453.1_Silent_p.I85I	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	85	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|long-term memory (GO:0007616)|myeloid dendritic cell differentiation (GO:0043011)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleocytoplasmic transport (GO:0006913)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of osteoclast differentiation (GO:0045670)|regulation of T cell differentiation in thymus (GO:0033081)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		ACAAAAAAATCGTAAGAACTG	0.378													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20290	0.0		0.0	False		,,,				2504	0.0					dbGAP											0			5											84.0	79.0	81.0					5																	110710562		2202	4300	6502	110738461	SO:0001819	synonymous_variant	0			D30742	CCDS4103.1	5q22.1	2012-09-20			ENSG00000152495	ENSG00000152495	2.7.11.17		1464	protein-coding gene	gene with protein product	"""brain Ca++-calmodulin-dependent protein kinase type IV"", ""calcium/calmodulin-dependent protein kinase type IV catalytic chain"", ""CAM kinase IV"", ""CAM kinase- GR"""	114080				2536634	Standard	NM_001744		Approved	CaMK-GR	uc003kpf.3	Q16566	OTTHUMG00000128792	ENST00000282356.4:c.255C>T	5.37:g.110710562C>T		Somatic	703	1.38	10		16	0.00	0	WXS	Illumina HiSeq	Phase_IV	110738461	70	49.64	69	D3DSZ7	Silent	SNP	HMMSmart_S_TKc,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase	p.I85	ENST00000282356.4	37	c.255	CCDS4103.1	5																																																																																			-	HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase		0.378	CAMK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMK4	protein_coding	OTTHUMT00000250719.2	C	NM_001744		110738461	+1	no_errors	NM_001744.3	genbank	human	reviewed	54_36p	silent	SNP	0.982	T
SUGCT	79783	genome.wustl.edu	37	7	40234648	40234648	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2936-03A-01W-0745-08	TCGA-AB-2936-11A-01W-0745-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	0194977a-f658-4a23-8913-4a4797b16698	b592578a-da5c-4b13-9938-ec6c13f7ec50	g.chr7:40234648G>T	ENST00000335693.4	+	6	517	c.494G>T	c.(493-495)tGt>tTt	p.C165F	C7orf10_ENST00000540834.1_Missense_Mutation_p.C158F|C7orf10_ENST00000401647.2_Missense_Mutation_p.C165F|C7orf10_ENST00000309930.5_Missense_Mutation_p.C165F	NM_001193313.1	NP_001180242.1	Q9HAC7	SUCHY_HUMAN		165					metabolic process (GO:0008152)	mitochondrion (GO:0005739)	succinate-hydroxymethylglutarate CoA-transferase activity (GO:0047369)			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						ATCATCTATTGTTCCATCACA	0.403																																						dbGAP											0			7											270.0	266.0	268.0					7																	40234648		1906	4124	6030	40201173	SO:0001583	missense	0																														ENST00000335693.4:c.494G>T	7.37:g.40234648G>T	ENSP00000338475:p.Cys165Phe	Somatic	562	3.05	18		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	40201173	70	29.70	30	A4D1W5|B4DR73|Q4KMW4|Q4KMW8|Q4KMZ0|Q8TE00|Q8TEY1	Missense_Mutation	SNP	HMMPfam_CoA_transf_3,superfamily_CoA-Trfase_fam_III	p.C128F	ENST00000335693.4	37	c.383	CCDS55105.1	7	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	23.2|23.2|23.2	4.382532|4.382532|4.382532	0.82792|0.82792|0.82792	.|.|.	.|.|.	ENSG00000175600|ENSG00000175600|ENSG00000175600	ENST00000309930;ENST00000401647;ENST00000335693;ENST00000540834|ENST00000413931|ENST00000416370	D;T;T;T|.|.	0.87179|.|.	-2.22;0.4;0.4;2.61|.|.	5.81|5.81|5.81	5.81|5.81|5.81	0.92471|0.92471|0.92471	CoA-transferase family III domain (2);|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	D|D|D	0.90707|0.90707|0.90707	0.7084|0.7084|0.7084	H|H|H	0.97896|0.97896|0.97896	4.1|4.1|4.1	0.58432|0.58432|0.58432	D|D|D	0.999999|0.999999|0.999999	D;D;D|.|.	0.89917|.|.	1.0;0.999;0.999|.|.	D;D;D|.|.	0.83275|.|.	0.996;0.994;0.987|.|.	D|D|D	0.93627|0.93627|0.93627	0.6953|0.6953|0.6953	10|5|5	0.87932|.|.	D|.|.	0|.|.	-15.0272|-15.0272|-15.0272	18.8409|18.8409|18.8409	0.92183|0.92183|0.92183	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	165;165;128|.|.	Q4KMW8;Q9HAC7;Q9HAC7-2|.|.	.;CG010_HUMAN;.|.|.	F|F|F	165;165;165;158|176|160	ENSP00000312054:C165F;ENSP00000385222:C165F;ENSP00000338475:C165F;ENSP00000445521:C158F|.|.	ENSP00000312054:C165F|.|.	C|L|V	+|+|+	2|3|1	0|2|0	C7orf10|C7orf10|C7orf10	40201173|40201173|40201173	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.729000|0.729000|0.729000	0.30791|0.30791|0.30791	0.988000|0.988000|0.988000	0.76386|0.76386|0.76386	8.009000|8.009000|8.009000	0.88606|0.88606|0.88606	2.738000|2.738000|2.738000	0.93877|0.93877|0.93877	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	TGT|TTG|GTT	-	HMMPfam_CoA_transf_3,superfamily_CoA-Trfase_fam_III		0.403	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	C7orf10	protein_coding	OTTHUMT00000338388.1	G			40201173	+1	no_errors	NM_024728.1	genbank	human	predicted	54_36p	missense	SNP	1.000	T
NRF1	4899	genome.wustl.edu	37	7	129348924	129348924	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2936-03A-01W-0745-08	TCGA-AB-2936-11A-01W-0745-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	0194977a-f658-4a23-8913-4a4797b16698	b592578a-da5c-4b13-9938-ec6c13f7ec50	g.chr7:129348924C>T	ENST00000393232.1	+	6	733	c.616C>T	c.(616-618)Cgg>Tgg	p.R206W	NRF1_ENST00000393231.3_Missense_Mutation_p.R206W|NRF1_ENST00000393230.2_Missense_Mutation_p.R206W|NRF1_ENST00000223190.4_Missense_Mutation_p.R206W|NRF1_ENST00000353868.4_Missense_Mutation_p.R206W|NRF1_ENST00000311967.2_Missense_Mutation_p.R206W|NRF1_ENST00000539636.1_Missense_Mutation_p.R45W	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	206					cellular lipid metabolic process (GO:0044255)|generation of precursor metabolites and energy (GO:0006091)|mitochondrion organization (GO:0007005)|organ regeneration (GO:0031100)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						GGCCCAGCTTCGGGCATTTAT	0.478																																						dbGAP											0			7											265.0	283.0	277.0					7																	129348924		2203	4300	6503	129136160	SO:0001583	missense	0			L22454	CCDS5813.2	7q32	2008-07-18			ENSG00000106459	ENSG00000106459			7996	protein-coding gene	gene with protein product	"""alpha palindromic-binding protein"""	600879				2584221	Standard	NM_005011		Approved	EWG, ALPHA-PAL	uc003voz.3	Q16656	OTTHUMG00000143736	ENST00000393232.1:c.616C>T	7.37:g.129348924C>T	ENSP00000376924:p.Arg206Trp	Somatic	723	2.68	20		20	56.52	26	WXS	Illumina HiSeq	Phase_IV	129136160	90	33.81	47	A8K4C6|B4DDV6|Q15305|Q96AN2	Missense_Mutation	SNP	HMMPfam_Nrf1_DNA-bind,HMMPfam_Nrf1_activ_bdg	p.R206W	ENST00000393232.1	37	c.616	CCDS5813.2	7	.	.	.	.	.	.	.	.	.	.	C	26.3	4.723159	0.89298	.	.	ENSG00000106459	ENST00000393232;ENST00000353868;ENST00000539636;ENST00000454688;ENST00000223190;ENST00000311967;ENST00000393230;ENST00000393231	.	.	.	5.84	5.84	0.93424	Nuclear respiratory factor 1, NLS/DNA-binding, dimerisation domain (1);	0.000000	0.85682	D	0.000000	T	0.80253	0.4589	M	0.79805	2.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82143	-0.0603	9	0.87932	D	0	-12.677	15.5418	0.76057	0.1383:0.8617:0.0:0.0	.	206;206	Q96AN2;Q16656	.;NRF1_HUMAN	W	206;206;45;206;206;206;206;206	.	ENSP00000223190:R206W	R	+	1	2	NRF1	129136160	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.657000	0.61490	2.768000	0.95171	0.650000	0.86243	CGG	-	HMMPfam_Nrf1_DNA-bind		0.478	NRF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	NRF1	protein_coding	OTTHUMT00000289813.1	C	NM_001040110		129136160	+1	no_errors	NM_001040110.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
IDH2	3418	genome.wustl.edu	37	15	90631934	90631934	+	Missense_Mutation	SNP	C	C	T	rs121913502		TCGA-AB-2936-03A-01W-0745-08	TCGA-AB-2936-11A-01W-0745-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	0194977a-f658-4a23-8913-4a4797b16698	b592578a-da5c-4b13-9938-ec6c13f7ec50	g.chr15:90631934C>T	ENST00000330062.3	-	4	532	c.419G>A	c.(418-420)cGg>cAg	p.R140Q	IDH2_ENST00000539790.1_Missense_Mutation_p.R10Q|IDH2_ENST00000540499.2_Missense_Mutation_p.R88Q|IDH2_ENST00000559482.1_Intron	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	140	Substrate binding. {ECO:0000250}.		R -> G (in D2HGA2). {ECO:0000269|PubMed:20847235}.|R -> Q (in D2HGA2). {ECO:0000269|PubMed:20847235}.		2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)	p.R140Q(292)|p.R140L(8)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			CAGGATGTTCCGGATAGTTCC	0.537			M		GBM																																	dbGAP		Dom	yes		15	15q26.1	3418	"""socitrate dehydrogenase 2 (NADP+), mitochondrial """		M	300	Substitution - Missense(300)	haematopoietic_and_lymphoid_tissue(300)	15											103.0	103.0	103.0					15																	90631934		2200	4298	6498	88432938	SO:0001583	missense	0				CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.419G>A	15.37:g.90631934C>T	ENSP00000331897:p.Arg140Gln	Somatic	339	2.55	9		162	48.73	154	WXS	Illumina HiSeq	Phase_IV	88432938	28	39.13	18	B2R6L6|B4DFL2|Q96GT3	Missense_Mutation	SNP	HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like	p.R140Q	ENST00000330062.3	37	c.419	CCDS10359.1	15	.	.	.	.	.	.	.	.	.	.	C	18.35	3.604397	0.66445	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	D;D;D	0.87179	-2.22;-2.22;-2.22	5.67	4.75	0.60458	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.95449	0.8522	H	0.96833	3.89	0.48185	D	0.999601	D	0.89917	1.0	D	0.87578	0.998	D	0.96254	0.9185	10	0.87932	D	0	.	12.4459	0.55651	0.0:0.9189:0.0:0.0811	.	140	P48735	IDHP_HUMAN	Q	140;10;88	ENSP00000331897:R140Q;ENSP00000438457:R10Q;ENSP00000446147:R88Q	ENSP00000331897:R140Q	R	-	2	0	IDH2	88432938	1.000000	0.71417	1.000000	0.80357	0.051000	0.14879	7.797000	0.85911	1.397000	0.46682	-0.258000	0.10820	CGG	-	HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like		0.537	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDH2	protein_coding	OTTHUMT00000313426.1	C			88432938	-1	no_errors	NM_002168.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
ACTL9	284382	genome.wustl.edu	37	19	8808551	8808551	+	Silent	SNP	G	G	A			TCGA-AB-2936-03A-01W-0745-08	TCGA-AB-2936-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	0194977a-f658-4a23-8913-4a4797b16698	b592578a-da5c-4b13-9938-ec6c13f7ec50	g.chr19:8808551G>A	ENST00000324436.3	-	1	621	c.501C>T	c.(499-501)ttC>ttT	p.F167F		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	167						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						GCAGCGACTCGAAGGCCACCT	0.672																																						dbGAP											0			19											44.0	44.0	44.0					19																	8808551		2203	4300	6503	8669551	SO:0001819	synonymous_variant	0				CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786			28494	protein-coding gene	gene with protein product							Standard	NM_178525		Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.501C>T	19.37:g.8808551G>A		Somatic	171	1.71	3		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	8669551	21	46.15	18	A8K893|Q6X960	Silent	SNP	PatternScan_N6_MTASE,HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain	p.F167	ENST00000324436.3	37	c.501	CCDS12207.1	19																																																																																			-	HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain		0.672	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGC33407	protein_coding	OTTHUMT00000459953.1	G	NM_178525		8669551	-1	no_errors	NM_178525.3	genbank	human	validated	54_36p	silent	SNP	1.000	A
COL5A3	50509	genome.wustl.edu	37	19	10088363	10088363	+	Silent	SNP	C	C	T			TCGA-AB-2936-03A-01W-0745-08	TCGA-AB-2936-11A-01W-0745-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	0194977a-f658-4a23-8913-4a4797b16698	b592578a-da5c-4b13-9938-ec6c13f7ec50	g.chr19:10088363C>T	ENST00000264828.3	-	42	3118	c.3033G>A	c.(3031-3033)gaG>gaA	p.E1011E		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1011	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			AAGGACCGCGCTCACCAGGGG	0.577																																						dbGAP											0			19											22.0	22.0	22.0					19																	10088363		2203	4300	6503	9949363	SO:0001819	synonymous_variant	0			AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.3033G>A	19.37:g.10088363C>T		Somatic	1196	2.19	27		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	9949363	80	45.95	68	Q9NZQ6	Silent	SNP	HMMPfam_COLFI,HMMSmart_SM00038,HMMSmart_SM00210,HMMPfam_Collagen,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2	p.E1011	ENST00000264828.3	37	c.3033	CCDS12222.1	19																																																																																			-	NULL		0.577	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A3	protein_coding	OTTHUMT00000315788.1	C	NM_015719		9949363	-1	no_errors	NM_015719.3	genbank	human	reviewed	54_36p	silent	SNP	1.000	T
RUNX1	861	genome.wustl.edu	37	21	36171607	36171607	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AB-2936-03A-01W-0745-08	TCGA-AB-2936-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	0194977a-f658-4a23-8913-4a4797b16698	b592578a-da5c-4b13-9938-ec6c13f7ec50	g.chr21:36171607G>A	ENST00000344691.4	-	5	2454	c.877C>T	c.(877-879)Cga>Tga	p.R293*	RUNX1_ENST00000437180.1_Nonsense_Mutation_p.R320*|RUNX1_ENST00000300305.3_Nonsense_Mutation_p.R320*|RUNX1_ENST00000399240.1_Nonsense_Mutation_p.R229*|RUNX1_ENST00000325074.5_Nonsense_Mutation_p.R308*	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	293	Interaction with KAT6A.|Pro/Ser/Thr-rich.				behavioral response to pain (GO:0048266)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system development (GO:0007417)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|hair follicle morphogenesis (GO:0031069)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|myeloid cell differentiation (GO:0030099)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of granulocyte differentiation (GO:0030853)|peripheral nervous system neuron development (GO:0048935)|positive regulation of angiogenesis (GO:0045766)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hair follicle cell proliferation (GO:0071336)|regulation of signal transduction (GO:0009966)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.R320*(3)		breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						CTTGAGAGTCGACTGGAAAGT	0.522			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""																																	dbGAP		Dom	yes		21	21q22.3	861	runt-related transcription factor 1  (AML1)		L	3	Substitution - Nonsense(3)	haematopoietic_and_lymphoid_tissue(3)	21	GRCh37	CM086912	RUNX1	M							145.0	134.0	138.0					21																	36171607		2203	4300	6503	35093477	SO:0001587	stop_gained	0			X79549	CCDS13639.1, CCDS42922.1, CCDS46646.1	21q22.3	2014-09-17	2008-07-29		ENSG00000159216	ENSG00000159216			10471	protein-coding gene	gene with protein product	"""aml1 oncogene"""	151385	"""acute myeloid leukemia 1"""	AML1, CBFA2		1427868, 7835892	Standard	NM_001001890		Approved	PEBP2A2, AMLCR1	uc010gmv.3	Q01196	OTTHUMG00000086299	ENST00000344691.4:c.877C>T	21.37:g.36171607G>A	ENSP00000340690:p.Arg293*	Somatic	218	0.45	1		701	28.12	275	WXS	Illumina HiSeq	Phase_IV	35093477	30	26.83	11	A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Nonsense_Mutation	SNP	superfamily_p53-like transcription factors,HMMPfam_Runt,HMMPfam_RunxI	p.R320*	ENST00000344691.4	37	c.958	CCDS42922.1	21	.	.	.	.	.	.	.	.	.	.	G	37	6.451672	0.97577	.	.	ENSG00000159216	ENST00000344691;ENST00000300305;ENST00000437180;ENST00000325074;ENST00000399240;ENST00000431176;ENST00000399245	.	.	.	5.78	5.78	0.91487	.	0.143790	0.47455	D	0.000221	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.4081	19.6065	0.95583	0.0:0.0:1.0:0.0	.	.	.	.	X	293;320;320;308;229;54;296	.	ENSP00000300305:R320X	R	-	1	2	RUNX1	35093477	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.398000	0.73244	2.731000	0.93534	0.650000	0.86243	CGA	-	NULL		0.522	RUNX1-001	KNOWN	basic|CCDS	protein_coding	RUNX1	protein_coding	OTTHUMT00000194230.1	G			35093477	-1	no_errors	NM_001754.2	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	A
