#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_NormalRefReads_WU	i_NormalVAF_WU	i_NormalVarReads_WU	i_ORegAnno_bin	i_RNARefReads_WU	i_RNAVAF_WU	i_RNAVarReads_WU	i_Start_position_hg18	i_TumorRefReads_WU	i_TumorVAF_WU	i_TumorVarReads_WU	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
PRDM16	63976	genome.wustl.edu	37	1	3328523	3328523	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2895-03A-01W-0733-08	TCGA-AB-2895-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ced1c58f-9241-45ee-9f22-0bfa1554881e	ed37c4cc-1273-4e25-ba04-7d9bf757fffa	g.chr1:3328523G>A	ENST00000270722.5	+	9	1811	c.1762G>A	c.(1762-1764)Gtg>Atg	p.V588M	PRDM16_ENST00000511072.1_Missense_Mutation_p.V589M|PRDM16_ENST00000442529.2_Missense_Mutation_p.V588M|PRDM16_ENST00000378398.3_Missense_Mutation_p.V589M|PRDM16_ENST00000514189.1_Missense_Mutation_p.V589M|PRDM16_ENST00000441472.2_Missense_Mutation_p.V588M|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378391.2_Missense_Mutation_p.V588M			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	588					brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GGACTCCTGTGTGGAGAAGCT	0.662			T	EVI1	"""MDS, AML"""																																	dbGAP		Dom	yes		1	1p36.23-p33	63976	PR domain containing 16		L	0			1											52.0	63.0	59.0					1																	3328523		2173	4266	6439	3318383	SO:0001583	missense	0			AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.1762G>A	1.37:g.3328523G>A	ENSP00000270722:p.Val588Met	84	0.00	0		20	44.44	16	3318383	19	37.50	12	A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Missense_Mutation	SNP	HMMSmart_SM00317,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers,superfamily_SET domain	p.V588M	ENST00000270722.5	37	c.1762	CCDS41236.2	1	.	.	.	.	.	.	.	.	.	.	G	3.498	-0.102370	0.06967	.	.	ENSG00000142611	ENST00000511072;ENST00000378398;ENST00000441472;ENST00000442529;ENST00000378391;ENST00000514189;ENST00000270722;ENST00000512462;ENST00000408992;ENST00000509860	T;T;T;T;T;T;T;T;T	0.05319	3.48;3.5;3.51;3.51;3.5;3.5;3.51;3.46;3.46	5.1	-1.01	0.10169	.	1.184840	0.06638	N	0.760465	T	0.03564	0.0102	N	0.08118	0	0.09310	N	1	B;B;P;B	0.38250	0.257;0.432;0.624;0.306	B;B;B;B	0.39379	0.051;0.215;0.298;0.107	T	0.42172	-0.9467	10	0.32370	T	0.25	.	4.8721	0.13639	0.1556:0.4089:0.3432:0.0923	.	588;588;588;588	Q9HAZ2;Q9HAZ2-2;F8WEV3;D3YTA5	PRD16_HUMAN;.;.;.	M	589;589;588;588;588;589;588;404;404;397	ENSP00000426975:V589M;ENSP00000367651:V589M;ENSP00000407968:V588M;ENSP00000405253:V588M;ENSP00000367643:V588M;ENSP00000421400:V589M;ENSP00000270722:V588M;ENSP00000422504:V404M;ENSP00000425796:V397M	ENSP00000270722:V588M	V	+	1	0	PRDM16	3318383	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.193000	0.09573	-0.063000	0.13065	-0.233000	0.12211	GTG	-	NULL		0.662	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRDM16	protein_coding	OTTHUMT00000001382.3	G	NM_022114		3318383	+1	no_errors	NM_022114.2	genbank	human	reviewed	54_36p	missense	SNP	0.001	A
DCAF8	50717	genome.wustl.edu	37	1	160209996	160209996	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2895-03A-01W-0733-08	TCGA-AB-2895-11A-01W-0732-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ced1c58f-9241-45ee-9f22-0bfa1554881e	ed37c4cc-1273-4e25-ba04-7d9bf757fffa	g.chr1:160209996A>G	ENST00000368073.3	-	4	648	c.214T>C	c.(214-216)Tca>Cca	p.S72P	DCAF8_ENST00000610139.1_Missense_Mutation_p.S72P|DCAF8_ENST00000475733.1_Missense_Mutation_p.S72P|DCAF8_ENST00000556710.1_Missense_Mutation_p.S226P|DCAF8_ENST00000326837.2_Missense_Mutation_p.S72P|DCAF8_ENST00000608310.1_Missense_Mutation_p.S226P|DCAF8_ENST00000368074.1_Missense_Mutation_p.S72P			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	72					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						TCTTCACCTGAGCTCTCTGTG	0.517																																						dbGAP											0			1											128.0	91.0	103.0					1																	160209996		2203	4300	6503	158476620	SO:0001583	missense	0			AK093176	CCDS1200.1	1q22-q23	2013-01-09	2009-07-17	2009-07-17	ENSG00000132716	ENSG00000132716		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	24891	protein-coding gene	gene with protein product		615820	"""WD repeat domain 42A"""	WDR42A		11401431	Standard	NM_015726		Approved	H326, FLJ35857	uc010pjb.1	Q5TAQ9	OTTHUMG00000031604	ENST00000368073.3:c.214T>C	1.37:g.160209996A>G	ENSP00000357052:p.Ser72Pro	109	0.91	1		96	48.11	89	158476620	114	48.44	109	D3DVE6|Q12839|Q4QQI6|Q53F14|Q66K50|Q68CS7|Q96E00	Missense_Mutation	SNP	HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40	p.S72P	ENST00000368073.3	37	c.214	CCDS1200.1	1	.	.	.	.	.	.	.	.	.	.	A	14.76	2.633089	0.47049	.	.	ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000258465;ENSG00000258465	ENST00000368073;ENST00000326837;ENST00000368074;ENST00000555195;ENST00000447377;ENST00000440682;ENST00000407642;ENST00000556710;ENST00000485079	T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.19;-0.19	5.03	5.03	0.67393	.	0.496921	0.16558	U	0.209179	T	0.62962	0.2471	L	0.43152	1.355	0.34251	D	0.678799	B;D;B	0.64830	0.002;0.994;0.007	B;P;B	0.60117	0.005;0.869;0.006	T	0.62751	-0.6788	10	0.31617	T	0.26	-3.5941	13.7732	0.63038	1.0:0.0:0.0:0.0	.	226;72;72	G3V3G9;Q5TAQ9-2;Q5TAQ9	.;.;DCAF8_HUMAN	P	72;72;72;226;72;72;72;226;284	ENSP00000357052:S72P;ENSP00000318227:S72P;ENSP00000357053:S72P;ENSP00000451989:S226P;ENSP00000451235:S226P	ENSP00000318227:S72P	S	-	1	0	RP11-574F21.3;DCAF8	158476620	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.242000	0.72376	1.889000	0.54706	0.528000	0.53228	TCA	-	NULL		0.517	DCAF8-001	KNOWN	basic|CCDS	protein_coding	WDR42A	protein_coding	OTTHUMT00000077402.2	A	NM_015726		158476620	-1	no_errors	NM_015726.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
DNMT3A	1788	genome.wustl.edu	37	2	25457242	25457242	+	Missense_Mutation	SNP	C	C	T	rs147001633	byFrequency	TCGA-AB-2895-03A-01W-0733-08	TCGA-AB-2895-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ced1c58f-9241-45ee-9f22-0bfa1554881e	ed37c4cc-1273-4e25-ba04-7d9bf757fffa	g.chr2:25457242C>T	ENST00000264709.3	-	23	2982	c.2645G>A	c.(2644-2646)cGc>cAc	p.R882H	DNMT3A_ENST00000321117.5_Missense_Mutation_p.R882H|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R693H|DNMT3A_ENST00000402667.1_Missense_Mutation_p.R659H|DNMT3A_ENST00000474887.1_5'Flank	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.R882H(209)|p.R882P(5)		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)					CCTCGCCAAGCGGCTCATGTT	0.592			"""Mis, F, N, S"""		AML																																	dbGAP		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	214	Substitution - Missense(214)	haematopoietic_and_lymphoid_tissue(214)	2						C	HIS/ARG,HIS/ARG,HIS/ARG	4,4402	6.2+/-15.9	0,4,2199	56.0	51.0	53.0		2645,2078,2645	5.7	1.0	2	dbSNP_134	53	5,8595	3.0+/-9.4	0,5,4295	yes	missense,missense,missense	DNMT3A	NM_022552.3,NM_153759.2,NM_175629.1	29,29,29	0,9,6494	TT,TC,CC		0.0581,0.0908,0.0692	possibly-damaging,possibly-damaging,possibly-damaging	882/913,693/724,882/913	25457242	9,12997	2203	4300	6503	25310746	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.2645G>A	2.37:g.25457242C>T	ENSP00000264709:p.Arg882His	130	0.00	0		39	59.18	58	25310746	18	47.06	16	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.R882H	ENST00000264709.3	37	c.2645	CCDS33157.1	2	.	.	.	.	.	.	.	.	.	.	C	23.1	4.380427	0.82682	9.08E-4	5.81E-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	0.95843	0.8647	M	0.80982	2.52	0.80722	D	1	P;B	0.38922	0.651;0.11	B;B	0.23018	0.043;0.003	D	0.95939	0.8945	10	0.62326	D	0.03	-8.768	18.4404	0.90665	0.0:1.0:0.0:0.0	.	882;693	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	H	693;882;882;659	ENSP00000370122:R693H;ENSP00000324375:R882H;ENSP00000264709:R882H;ENSP00000384237:R659H	ENSP00000264709:R882H	R	-	2	0	DNMT3A	25310746	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.814000	0.86154	2.698000	0.92095	0.561000	0.74099	CGC	-	superfamily_S-adenosyl-L-methionine-dependent methyltransferases		0.592	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	protein_coding	OTTHUMT00000211587.1	C	NM_022552		25310746	-1	no_errors	NM_022552.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
SH3TC2	79628	genome.wustl.edu	37	5	148406153	148406153	+	Missense_Mutation	SNP	C	C	T	rs140666774	byFrequency	TCGA-AB-2895-03A-01W-0733-08	TCGA-AB-2895-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ced1c58f-9241-45ee-9f22-0bfa1554881e	ed37c4cc-1273-4e25-ba04-7d9bf757fffa	g.chr5:148406153C>T	ENST00000515425.1	-	12	3136	c.3035G>A	c.(3034-3036)cGg>cAg	p.R1012Q	SH3TC2_ENST00000394358.2_Missense_Mutation_p.G933R|SH3TC2_ENST00000513340.1_5'Flank|SH3TC2_ENST00000538184.1_Missense_Mutation_p.R559Q|SH3TC2_ENST00000512049.1_Missense_Mutation_p.R1005Q	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	1012					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTTAGGTTCCGATAAAGCTG	0.557																																						dbGAP											0			5						C	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	83.0	90.0	88.0		3035	2.4	1.0	5	dbSNP_134	88	0,8600		0,0,4300	no	missense	SH3TC2	NM_024577.3	43	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging	1012/1289	148406153	2,13004	2203	4300	6503	148386346	SO:0001583	missense	0			AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"""Tetratricopeptide (TTC) repeat domain containing"""	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.3035G>A	5.37:g.148406153C>T	ENSP00000423660:p.Arg1012Gln	33	0.00	0		11	15.38	2	148386346	78	17.89	17	B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	HMMPfam_TPR_1,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_SH3_2,HMMSmart_SM00028,superfamily_TPR-like	p.R1012Q	ENST00000515425.1	37	c.3035	CCDS4293.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.692|0.692	-0.794232|-0.794232	0.02862|0.02862	4.54E-4|4.54E-4	0.0|0.0	ENSG00000169247|ENSG00000169247	ENST00000394358|ENST00000538184;ENST00000515425;ENST00000512049	T|T;T;T	0.74632|0.76186	-0.86|-1.0;-0.93;-1.0	5.37|5.37	2.43|2.43	0.29744|0.29744	.|Tetratricopeptide-like helical (1);	.|0.077470	.|0.52532	.|D	.|0.000075	T|T	0.42200|0.42200	0.1192|0.1192	N|N	0.05383|0.05383	-0.06|-0.06	0.23287|0.23287	N|N	0.99797|0.99797	B|B;B;B	0.14438|0.32620	0.01|0.378;0.378;0.378	B|B;B;B	0.08055|0.16289	0.003|0.015;0.015;0.015	T|T	0.16837|0.16837	-1.0389|-1.0389	9|10	0.87932|0.22706	D|T	0|0.39	-16.2865|-16.2865	3.1462|3.1462	0.06472|0.06472	0.1961:0.4168:0.0:0.3871|0.1961:0.4168:0.0:0.3871	.|.	933|1005;1012;1012	C9JLC3|Q14CC0;E9PDF1;Q8TF17	.|.;.;S3TC2_HUMAN	R|Q	933|559;1012;1005	ENSP00000377886:G933R|ENSP00000441427:R559Q;ENSP00000423660:R1012Q;ENSP00000421860:R1005Q	ENSP00000377886:G933R|ENSP00000425627:R1012Q	G|R	-|-	1|2	0|0	SH3TC2|SH3TC2	148386346|148386346	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.021000|0.021000	0.10359|0.10359	2.253000|2.253000	0.43205|0.43205	0.845000|0.845000	0.35118|0.35118	-0.229000|-0.229000	0.12294|0.12294	GGA|CGG	-	superfamily_TPR-like		0.557	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3TC2	protein_coding	OTTHUMT00000252186.2	C	NM_024577		148386346	-1	no_errors	NM_024577.3	genbank	human	reviewed	54_36p	missense	SNP	0.998	T
ATP10B	23120	genome.wustl.edu	37	5	160113140	160113140	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2895-03A-01W-0733-08	TCGA-AB-2895-11A-01W-0732-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ced1c58f-9241-45ee-9f22-0bfa1554881e	ed37c4cc-1273-4e25-ba04-7d9bf757fffa	g.chr5:160113140T>C	ENST00000327245.5	-	6	1262	c.416A>G	c.(415-417)aAg>aGg	p.K139R	ATP10B_ENST00000518411.1_5'Flank|CTC-529G1.1_ENST00000524198.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	139					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCGGTGTCTCTTGAAGTCCTC	0.438																																						dbGAP											0			5											112.0	105.0	107.0					5																	160113140		1928	4123	6051	160045718	SO:0001583	missense	0			AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.416A>G	5.37:g.160113140T>C	ENSP00000313600:p.Lys139Arg	114	0.85	1		NA	NA	NA	160045718	114	36.31	65	Q9H725	Missense_Mutation	SNP	HMMPfam_E1-E2_ATPase,HMMPfam_Hydrolase_3,PatternScan_ATPASE_E1_E2,superfamily_HAD-like,superfamily_Calcium ATPase transduction domain A,superfamily_Metal cation-transporting ATPase ATP-binding domain N	p.K139R	ENST00000327245.5	37	c.416	CCDS43394.1	5	.	.	.	.	.	.	.	.	.	.	T	1.040	-0.679138	0.03378	.	.	ENSG00000118322	ENST00000327245	T	0.64260	-0.09	5.24	0.116	0.14647	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.462208	0.24224	N	0.040413	T	0.31071	0.0785	N	0.02708	-0.52	0.32859	D	0.507685	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.13407	0.009;0.001;0.005	T	0.26744	-1.0094	9	.	.	.	.	9.8762	0.41205	0.0:0.3963:0.0:0.6037	.	183;139;139	B4DHG1;O94823-2;O94823	.;.;AT10B_HUMAN	R	139	ENSP00000313600:K139R	.	K	-	2	0	ATP10B	160045718	0.983000	0.35010	0.818000	0.32626	0.344000	0.29017	0.225000	0.17757	-0.200000	0.10300	0.533000	0.62120	AAG	-	HMMPfam_E1-E2_ATPase		0.438	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10B	protein_coding	OTTHUMT00000374127.1	T	NM_025153		160045718	-1	no_errors	NM_025153.2	genbank	human	validated	54_36p	missense	SNP	0.985	C
DOCK2	1794	genome.wustl.edu	37	5	169125454	169125454	+	Splice_Site	SNP	G	G	A			TCGA-AB-2895-03A-01W-0733-08	TCGA-AB-2895-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ced1c58f-9241-45ee-9f22-0bfa1554881e	ed37c4cc-1273-4e25-ba04-7d9bf757fffa	g.chr5:169125454G>A	ENST00000256935.8	+	11	1135		c.e11+1			NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2						actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTTTCACCCGTAAGACATTT	0.428																																						dbGAP											0			5											215.0	197.0	203.0					5																	169125454		2203	4300	6503	169058032	SO:0001630	splice_region_variant	0			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.1055+1G>A	5.37:g.169125454G>A		119	0.00	0		3	25.00	1	169058032	130	42.22	95	Q2M3I0|Q96AK7	Splice_Site	SNP	-	e11+1	ENST00000256935.8	37	c.1055+1	CCDS4371.1	5	.	.	.	.	.	.	.	.	.	.	G	23.6	4.439181	0.83885	.	.	ENSG00000134516	ENST00000256935	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9882	0.97356	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DOCK2	169058032	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	9.336000	0.96533	2.824000	0.97209	0.655000	0.94253	.	-	-		0.428	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK2	protein_coding	OTTHUMT00000252828.2	G	NM_004946	Intron	169058032	+1	no_errors	NM_004946.2	genbank	human	validated	54_36p	splice_site	SNP	1.000	A
TBX18	9096	genome.wustl.edu	37	6	85454009	85454009	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2895-03A-01W-0733-08	TCGA-AB-2895-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ced1c58f-9241-45ee-9f22-0bfa1554881e	ed37c4cc-1273-4e25-ba04-7d9bf757fffa	g.chr6:85454009G>A	ENST00000369663.5	-	6	1311	c.974C>T	c.(973-975)gCt>gTt	p.A325V	TBX18_ENST00000606521.1_5'UTR|TBX18_ENST00000606784.1_Missense_Mutation_p.A167V	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	325					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GAAGCCTTTAGCAAATGGATT	0.353																																						dbGAP											0			6											45.0	45.0	45.0					6																	85454009		2203	4299	6502	85510728	SO:0001583	missense	0			AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"""T-boxes"""	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.974C>T	6.37:g.85454009G>A	ENSP00000358677:p.Ala325Val	55	0.00	0		NA	NA	NA	85510728	37	42.19	27	A2RU13|Q7Z6U4|Q9UJI6	Missense_Mutation	SNP	HMMPfam_T-box,HMMSmart_TBOX,superfamily_P53_like_DNA_bnd,PatternScan_TBOX_2,PatternScan_TBOX_1	p.A325V	ENST00000369663.5	37	c.974	CCDS34495.1	6	.	.	.	.	.	.	.	.	.	.	G	36	5.630702	0.96682	.	.	ENSG00000112837	ENST00000416980;ENST00000369663	D	0.92048	-2.96	5.92	5.92	0.95590	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.97698	0.9245	H	0.96576	3.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73380	0.98;0.955	D	0.98223	1.0479	10	0.87932	D	0	.	20.3213	0.98679	0.0:0.0:1.0:0.0	.	241;325	Q8IW86;O95935	.;TBX18_HUMAN	V	240;325	ENSP00000358677:A325V	ENSP00000358677:A325V	A	-	2	0	TBX18	85510728	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.476000	0.97823	2.810000	0.96702	0.650000	0.86243	GCT	-	HMMPfam_T-box,HMMSmart_TBOX,superfamily_P53_like_DNA_bnd		0.353	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX18	protein_coding	OTTHUMT00000041378.2	G	NM_001080508		85510728	-1	no_errors	NM_001080508.1	genbank	human	provisional	54_36p	missense	SNP	1.000	A
DHX32	55760	genome.wustl.edu	37	10	127569152	127569152	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2895-03A-01W-0733-08	TCGA-AB-2895-11A-01W-0732-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ced1c58f-9241-45ee-9f22-0bfa1554881e	ed37c4cc-1273-4e25-ba04-7d9bf757fffa	g.chr10:127569152A>G	ENST00000284690.3	-	1	732	c.242T>C	c.(241-243)gTg>gCg	p.V81A	DHX32_ENST00000284688.6_Missense_Mutation_p.V81A	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	81	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TGAAACAATCACGATTTGATT	0.313																																						dbGAP											0			10											77.0	74.0	75.0					10																	127569152		2203	4300	6503	127559142	SO:0001583	missense	0				CCDS7652.1	10q26.11-q26.2	2008-01-07	2004-01-29	2004-01-30	ENSG00000089876	ENSG00000089876		"""DEAH-boxes"""	16717	protein-coding gene	gene with protein product		607960	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32"""	DDX32			Standard	NM_018180		Approved	FLJ10889, FLJ10694, DHLP1	uc001ljf.1	Q7L7V1	OTTHUMG00000019238	ENST00000284690.3:c.242T>C	10.37:g.127569152A>G	ENSP00000284690:p.Val81Ala	78	0.00	0		15	54.55	18	127559142	52	44.68	42	A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	Missense_Mutation	SNP	HMMPfam_HA2,HMMPfam_DUF1605,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.V81A	ENST00000284690.3	37	c.242	CCDS7652.1	10	.	.	.	.	.	.	.	.	.	.	A	24.2	4.499932	0.85176	.	.	ENSG00000089876	ENST00000284690;ENST00000284688;ENST00000415732	T;T;T	0.03553	3.89;3.89;3.89	5.04	5.04	0.67666	DEAD-like helicase (1);	0.000000	0.85682	D	0.000000	T	0.20414	0.0491	M	0.90595	3.13	0.34505	D	0.706496	D	0.67145	0.996	P	0.60473	0.875	T	0.43814	-0.9368	10	0.87932	D	0	-31.9271	14.9425	0.71006	1.0:0.0:0.0:0.0	.	81	Q7L7V1	DHX32_HUMAN	A	81	ENSP00000284690:V81A;ENSP00000284688:V81A;ENSP00000406781:V81A	ENSP00000284688:V81A	V	-	2	0	DHX32	127559142	1.000000	0.71417	0.602000	0.28890	0.942000	0.58702	7.981000	0.88123	2.113000	0.64589	0.454000	0.30748	GTG	-	superfamily_P-loop containing nucleoside triphosphate hydrolases		0.313	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX32	protein_coding	OTTHUMT00000050945.2	A	NM_018180		127559142	-1	no_errors	NM_018180.2	genbank	human	reviewed	54_36p	missense	SNP	0.861	G
LDLRAD3	143458	genome.wustl.edu	37	11	36250884	36250884	+	Silent	SNP	C	C	T			TCGA-AB-2895-03A-01W-0733-08	TCGA-AB-2895-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ced1c58f-9241-45ee-9f22-0bfa1554881e	ed37c4cc-1273-4e25-ba04-7d9bf757fffa	g.chr11:36250884C>T	ENST00000315571.5	+	6	996	c.975C>T	c.(973-975)ggC>ggT	p.G325G	LDLRAD3_ENST00000528989.1_Silent_p.G276G|LDLRAD3_ENST00000524419.1_Silent_p.G315G	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain containing 3	325					receptor-mediated endocytosis (GO:0006898)|regulation of protein processing (GO:0070613)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				GGCAGCCTGGCCCCCAGGAGG	0.632																																						dbGAP											0			11											48.0	58.0	54.0					11																	36250884		2201	4294	6495	36207460	SO:0001819	synonymous_variant	0			AK075546	CCDS31462.1	11p13	2014-06-05			ENSG00000179241	ENSG00000179241			27046	protein-coding gene	gene with protein product						21795536	Standard	NM_174902		Approved	LRAD3	uc001mwk.1	Q86YD5	OTTHUMG00000166313	ENST00000315571.5:c.975C>T	11.37:g.36250884C>T		28	0.00	0		0	100.00	1	36207460	21	34.38	11	B7Z1U3|B9EG81|Q8NBJ0	Silent	SNP	HMMPfam_Ldl_recept_a,HMMSmart_LDLa,PatternScan_LDLRA_1,superfamily_LDL_rcpt_classA_cys-rich	p.G325	ENST00000315571.5	37	c.975	CCDS31462.1	11																																																																																			-	NULL		0.632	LDLRAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LDLRAD3	protein_coding	OTTHUMT00000389085.1	C	NM_174902		36207460	+1	no_errors	NM_174902.2	genbank	human	provisional	54_36p	silent	SNP	0.060	T
TSKU	25987	genome.wustl.edu	37	11	76506897	76506897	+	Silent	SNP	G	G	A			TCGA-AB-2895-03A-01W-0733-08	TCGA-AB-2895-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ced1c58f-9241-45ee-9f22-0bfa1554881e	ed37c4cc-1273-4e25-ba04-7d9bf757fffa	g.chr11:76506897G>A	ENST00000527881.1	+	2	1263	c.237G>A	c.(235-237)gcG>gcA	p.A79A	TSKU_ENST00000333090.4_Silent_p.A79A			Q8WUA8	TSK_HUMAN	tsukushi, small leucine rich proteoglycan	79					anterior commissure morphogenesis (GO:0021960)|ciliary body morphogenesis (GO:0061073)|corpus callosum morphogenesis (GO:0021540)|lateral ventricle development (GO:0021670)|negative regulation of Wnt signaling pathway (GO:0030178)|regulation of gene expression (GO:0010468)	extracellular space (GO:0005615)				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					CGGTGTTGGCGGGGCCGGGCT	0.647																																						dbGAP											0			11											67.0	53.0	58.0					11																	76506897		2200	4292	6492	76184545	SO:0001819	synonymous_variant	0			AK075476	CCDS8246.1	11q13.5	2012-12-05	2012-12-05	2006-11-21	ENSG00000182704	ENSG00000182704			28850	protein-coding gene	gene with protein product		608015	"""leucine rich repeat containing 54"", ""tsukushin"", ""tsukushi small leucine rich proteoglycan homolog (Xenopus laevis)"""	LRRC54		11085516, 19710929, 22880013	Standard	NM_001258210		Approved	E2IG4, TSK	uc031qcw.1	Q8WUA8		ENST00000527881.1:c.237G>A	11.37:g.76506897G>A		63	0.00	0		NA	NA	NA	76184545	40	35.48	22	B3KQT7|Q6UXK1|Q9UG10|Q9UJX9	Silent	SNP	HMMSmart_LRRNT,HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_SSF52047	p.A79	ENST00000527881.1	37	c.237	CCDS8246.1	11																																																																																			-	superfamily_SSF52047		0.647	TSKU-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TSKU	protein_coding	OTTHUMT00000382871.1	G	NM_015516		76184545	+1	no_errors	NM_015516.3	genbank	human	validated	54_36p	silent	SNP	0.722	A
CAND1	55832	genome.wustl.edu	37	12	67700254	67700254	+	Missense_Mutation	SNP	T	T	G			TCGA-AB-2895-03A-01W-0733-08	TCGA-AB-2895-11A-01W-0732-08	T	T	T	G	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ced1c58f-9241-45ee-9f22-0bfa1554881e	ed37c4cc-1273-4e25-ba04-7d9bf757fffa	g.chr12:67700254T>G	ENST00000545606.1	+	10	3243	c.2806T>G	c.(2806-2808)Tta>Gta	p.L936V		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	936					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		CTGGGCCTTATTACTAAAGCA	0.413																																						dbGAP											0			12											76.0	76.0	76.0					12																	67700254		2203	4300	6503	65986521	SO:0001583	missense	0				CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"""TBP interacting protein"""	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.2806T>G	12.37:g.67700254T>G	ENSP00000442318:p.Leu936Val	47	2.04	1		43	49.41	42	65986521	56	56.92	74	B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Missense_Mutation	SNP	HMMPfam_HEAT,HMMPfam_TIP120,superfamily_ARM repeat	p.L936V	ENST00000545606.1	37	c.2806	CCDS8977.1	12	.	.	.	.	.	.	.	.	.	.	T	14.99	2.699489	0.48307	.	.	ENSG00000111530	ENST00000545606;ENST00000299218;ENST00000544619	T;T	0.37752	1.18;1.18	5.76	0.824	0.18818	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.64450	0.2599	H	0.95004	3.61	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73380	0.98;0.973	T	0.67507	-0.5653	9	.	.	.	-7.9114	8.9426	0.35740	0.0:0.6751:0.0:0.3249	.	768;936	Q86VP6-2;Q86VP6	.;CAND1_HUMAN	V	936;936;476	ENSP00000442318:L936V;ENSP00000444089:L476V	.	L	+	1	2	CAND1	65986521	0.998000	0.40836	0.977000	0.42913	0.990000	0.78478	0.656000	0.24948	0.140000	0.18849	0.482000	0.46254	TTA	-	superfamily_ARM repeat		0.413	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAND1	protein_coding	OTTHUMT00000402105.1	T	NM_018448		65986521	+1	no_errors	NM_018448.3	genbank	human	validated	54_36p	missense	SNP	0.998	G
GUCY2D	3000	genome.wustl.edu	37	17	7917239	7917239	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2895-03A-01W-0733-08	TCGA-AB-2895-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ced1c58f-9241-45ee-9f22-0bfa1554881e	ed37c4cc-1273-4e25-ba04-7d9bf757fffa	g.chr17:7917239C>T	ENST00000254854.4	+	12	2455	c.2305C>T	c.(2305-2307)Ccc>Tcc	p.P769S		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	769	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			skin(1)	1		Prostate(122;0.157)				ACTGTGTCGGCCCTTGGTGTC	0.627																																						dbGAP											0			17											82.0	83.0	83.0					17																	7917239		2203	4300	6503	7857964	SO:0001583	missense	0			L26921	CCDS11127.1	17p13.1	2013-06-06			ENSG00000132518	ENSG00000132518			4689	protein-coding gene	gene with protein product		600179	"""cone rod dystrophy 6"""	CORD6, LCA, GUC2D, GUC1A4		1356371, 12552567	Standard	NM_000180		Approved	retGC, RETGC-1, ROS-GC1, CYGD, LCA1	uc002gjt.2	Q02846	OTTHUMG00000108169	ENST00000254854.4:c.2305C>T	17.37:g.7917239C>T	ENSP00000254854:p.Pro769Ser	75	0.00	0		0	100.00	1	7857964	33	36.54	19	Q6LEA7	Missense_Mutation	SNP	HMMPfam_Guanylate_cyc,HMMSmart_CYCc,superfamily_A/G_cyclase,HMMPfam_ANF_receptor,superfamily_Kinase_like,HMMPfam_Pkinase,PatternScan_GUANYLATE_CYCLASE_1,superfamily_SSF53822	p.P769S	ENST00000254854.4	37	c.2305	CCDS11127.1	17	.	.	.	.	.	.	.	.	.	.	C	30	5.055702	0.93793	.	.	ENSG00000132518	ENST00000254854	D	0.86230	-2.09	5.44	5.44	0.79542	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.52532	D	0.000074	D	0.95201	0.8444	M	0.92649	3.33	0.53688	D	0.999973	D	0.89917	1.0	D	0.87578	0.998	D	0.95773	0.8810	10	0.87932	D	0	.	18.2031	0.89846	0.0:1.0:0.0:0.0	.	769	Q02846	GUC2D_HUMAN	S	769	ENSP00000254854:P769S	ENSP00000254854:P769S	P	+	1	0	GUCY2D	7857964	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.244000	0.78228	2.837000	0.97791	0.655000	0.94253	CCC	-	superfamily_Kinase_like,HMMPfam_Pkinase		0.627	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2D	protein_coding	OTTHUMT00000226973.2	C			7857964	+1	no_errors	NM_000180.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
GAS7	8522	genome.wustl.edu	37	17	9830018	9830018	+	Silent	SNP	G	G	A			TCGA-AB-2895-03A-01W-0733-08	TCGA-AB-2895-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ced1c58f-9241-45ee-9f22-0bfa1554881e	ed37c4cc-1273-4e25-ba04-7d9bf757fffa	g.chr17:9830018G>A	ENST00000432992.2	-	10	1114	c.954C>T	c.(952-954)tgC>tgT	p.C318C	GAS7_ENST00000542249.1_Silent_p.C254C|GAS7_ENST00000579158.1_Silent_p.C254C|GAS7_ENST00000580865.1_Silent_p.C178C|GAS7_ENST00000585266.1_Silent_p.C258C|GAS7_ENST00000396115.2_Intron|GAS7_ENST00000323816.4_Silent_p.C258C|GAS7_ENST00000437099.2_Silent_p.C254C|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000540214.1_Intron	NM_201433.1	NP_958839.1	O60861	GAS7_HUMAN	growth arrest-specific 7	318					actin filament bundle assembly (GO:0051017)|actin filament polymerization (GO:0030041)|cell cycle arrest (GO:0007050)|neuron projection morphogenesis (GO:0048812)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|ruffle (GO:0001726)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C178*(1)|p.C318*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						TGTGGTGGTCGCACTTCTTCA	0.592			T	MLL	AML*																																	dbGAP		Dom	yes		17	17p	8522	growth arrest-specific 7		L	2	Substitution - Nonsense(2)	lung(2)	17											93.0	87.0	89.0					17																	9830018		2203	4300	6503	9770743	SO:0001819	synonymous_variant	0			AB007854	CCDS11152.1, CCDS42263.1, CCDS45611.1, CCDS58518.1	17p13.1	2004-02-18							4169	protein-coding gene	gene with protein product		603127				9736752	Standard	NM_001130831		Approved	KIAA0394, MGC1348	uc002gmg.1	O60861		ENST00000432992.2:c.954C>T	17.37:g.9830018G>A		149	1.31	2		28	14.71	5	9770743	127	23.49	39	A8KAC2|B2RCK9|O43144|Q53Y77|Q7Z571	Silent	SNP	HMMPfam_FCH,HMMSmart_SM00055,HMMPfam_WW,HMMSmart_SM00456,PatternScan_WW_DOMAIN_1,superfamily_WW domain,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain	p.C318	ENST00000432992.2	37	c.954	CCDS11152.1	17																																																																																			-	NULL		0.592	GAS7-017	KNOWN	basic|appris_principal|CCDS	protein_coding	GAS7	protein_coding	OTTHUMT00000439883.1	G	NM_003644, NM_201432, NM_201433		9770743	-1	no_errors	NM_201433.1	genbank	human	reviewed	54_36p	silent	SNP	0.891	A
MED24	9862	genome.wustl.edu	37	17	38189624	38189624	+	Silent	SNP	G	G	T	rs370550827		TCGA-AB-2895-03A-01W-0733-08	TCGA-AB-2895-11A-01W-0732-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ced1c58f-9241-45ee-9f22-0bfa1554881e	ed37c4cc-1273-4e25-ba04-7d9bf757fffa	g.chr17:38189624G>T	ENST00000394128.2	-	7	726	c.645C>A	c.(643-645)gcC>gcA	p.A215A	MED24_ENST00000394126.1_Silent_p.A240A|MED24_ENST00000479829.1_5'Flank|MED24_ENST00000394127.2_Silent_p.A202A|MED24_ENST00000501516.3_Silent_p.A234A|MED24_ENST00000356271.3_Silent_p.A202A	NM_014815.3	NP_055630.2	O75448	MED24_HUMAN	mediator complex subunit 24	215					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					CACACTGCTCGGCCTGACTCC	0.607																																						dbGAP											0			17											43.0	40.0	41.0					17																	38189624		2203	4300	6503	35443150	SO:0001819	synonymous_variant	0			AF055995	CCDS11359.1, CCDS42315.1	17q21.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000008838	ENSG00000008838			22963	protein-coding gene	gene with protein product		607000	"""thyroid hormone receptor associated protein 4"", ""cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa"""	THRAP4, CRSP4			Standard	NM_001079518		Approved	TRAP100, KIAA0130, DRIP100, CRSP100	uc002htt.3	O75448	OTTHUMG00000133329	ENST00000394128.2:c.645C>A	17.37:g.38189624G>T		120	0.00	0		40	49.37	39	35443150	39	51.25	41	A8K4S5|B3KMR9|Q14143|Q9NNY5	Silent	SNP	NULL	p.A215	ENST00000394128.2	37	c.645	CCDS11359.1	17																																																																																			-	NULL		0.607	MED24-006	KNOWN	basic|appris_principal|CCDS	protein_coding	MED24	protein_coding	OTTHUMT00000257147.2	G	NM_014815		35443150	-1	no_errors	NM_014815.1	genbank	human	reviewed	54_36p	silent	SNP	0.346	T
ALDH16A1	126133	genome.wustl.edu	37	19	49965892	49965892	+	Silent	SNP	G	G	A			TCGA-AB-2895-03A-01W-0733-08	TCGA-AB-2895-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ced1c58f-9241-45ee-9f22-0bfa1554881e	ed37c4cc-1273-4e25-ba04-7d9bf757fffa	g.chr19:49965892G>A	ENST00000293350.4	+	8	1141	c.978G>A	c.(976-978)cgG>cgA	p.R326R	ALDH16A1_ENST00000455361.2_Silent_p.R275R|ALDH16A1_ENST00000540132.1_Silent_p.R163R|CTD-3148I10.9_ENST00000599536.1_5'Flank|ALDH16A1_ENST00000433981.2_Silent_p.R161R	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	326						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		TGCAGGAGCGGATGGGGCGGC	0.657																																						dbGAP											0			19											52.0	56.0	55.0					19																	49965892		2203	4300	6503	54657704	SO:0001819	synonymous_variant	0			AY007096	CCDS12766.1, CCDS46141.1	19q13.33	2014-08-12			ENSG00000161618	ENSG00000161618		"""Aldehyde dehydrogenases"""	28114	protein-coding gene	gene with protein product		613358					Standard	NM_153329		Approved	MGC10204	uc002pnt.3	Q8IZ83	OTTHUMG00000183163	ENST00000293350.4:c.978G>A	19.37:g.49965892G>A		23	0.00	0		17	29.17	7	54657704	32	20.00	8	B4DLQ1|C9JBH6|Q86YF0|Q8IYL4|Q8TEI8	Silent	SNP	HMMPfam_Aldedh,superfamily_ALDH-like	p.R326	ENST00000293350.4	37	c.978	CCDS12766.1	19																																																																																			-	HMMPfam_Aldedh,superfamily_ALDH-like		0.657	ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH16A1	protein_coding	OTTHUMT00000465358.1	G	NM_153329		54657704	+1	no_errors	NM_153329.1	genbank	human	validated	54_36p	silent	SNP	0.406	A
NPM1	4869	genome.wustl.edu	37	5	170837543	170837544	+	Frame_Shift_Ins	INS	-	-	TCTG	rs17850940		TCGA-AB-2895-03A-01W-0733-08	TCGA-AB-2895-11A-01W-0732-08	-	-	-	TCTG	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ced1c58f-9241-45ee-9f22-0bfa1554881e	ed37c4cc-1273-4e25-ba04-7d9bf757fffa	g.chr5:170837543_170837544insTCTG	ENST00000296930.5	+	11	1160_1161	c.859_860insTCTG	c.(859-861)ctcfs	p.-287fs	NPM1_ENST00000351986.6_Frame_Shift_Ins_p.-258fs|NPM1_ENST00000517671.1_Frame_Shift_Ins_p.-287fs	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)						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(7)|p.W288fs*>9(5)|p.L287fs*11(2)|p.L287F(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)			TATTCAAGATCTCTGGCAGTGG	0.317			"""T, F """	"""ALK, RARA, MLF1"""	"""NHL, APL, AML"""																																	dbGAP		Dom	yes		5	5q35	4869	"""nucleophosmin (nucleolar phosphoprotein B23, numatrin)"""		L	15	Insertion - Frameshift(14)|Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(15)	5																																								170770149	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.Leu287fs	NA	NA	NA		NA	NA	NA	170770148	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.859_860	CCDS4376.1	5																																																																																			-	NULL		0.317	NPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPM1	protein_coding	OTTHUMT00000252858.2	-	NM_002520		170770149	+1	no_errors	NM_002520.1	genbank	human	validated	54_36p	frame_shift_ins	INS	1.000:1.000	TCTG
FLT3	2322	genome.wustl.edu	37	13	28608218	28608219	+	Splice_Site	INS	-	-	CAAACTCTAAATTTTCTCTTGGAAACTCCCATTTGAGATCATATT			TCGA-AB-2895-03A-01W-0733-08	TCGA-AB-2895-11A-01W-0732-08	-	-	-	CAAACTCTAAATTTTCTCTTGGAAACTCCCATTTGAGATCATATT	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ced1c58f-9241-45ee-9f22-0bfa1554881e	ed37c4cc-1273-4e25-ba04-7d9bf757fffa	g.chr13:28608218_28608219insCAAACTCTAAATTTTCTCTTGGAAACTCCCATTTGAGATCATATT	ENST00000241453.7	-	14	1918_1919		c.e14+1		FLT3_ENST00000380982.4_Splice_Site|FLT3_ENST00000537084.1_Splice_Site	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3						B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.F612_G613ins20(1)|p.612_613>QVTGSSDNEYFYVDFREYEYDLKWEFPRENLEL(1)|p.F612_G613ins16(1)|p.F612_G613ins17(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCCATTCTTACCAAACTCTAAA	0.376			"""Mis, O"""		"""AML, ALL"""																																	dbGAP		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	4	Insertion - In frame(3)|Complex - insertion inframe(1)	haematopoietic_and_lymphoid_tissue(4)	13																																								27506219	SO:0001630	splice_region_variant	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1837+1->AATATGATCTCAAATGGGAGTTTCCAAGAGAAAATTTAGAGTTTG	13.37:g.28608218_28608219insCAAACTCTAAATTTTCTCTTGGAAACTCCCATTTGAGATCATATT		NA	NA	NA		NA	NA	NA	27506218	NA	NA	NA	A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	In_Frame_Ins	INS	-	in_frame_ins	ENST00000241453.7	37		CCDS31953.1	13																																																																																			-	-		0.376	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	protein_coding	OTTHUMT00000044319.2	-		Intron	27506219	-1	no_errors	NM_004119.2	genbank	human	reviewed	54_36p	in_frame_ins	INS	1.000:1.000	CAAACTCTAAATTTTCTCTTGGAAACTCCCATTTGAGATCATATT
