#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_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	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_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	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_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_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
KAT6B	23522	broad.mit.edu	37	10	76603076	76603076	+	Missense_Mutation	SNP	T	T	G			TCGA-EM-A1YE-01A-11D-A14W-08	TCGA-EM-A1YE-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d6e12e0-19a7-4e52-84a2-707bfc16568d	7b7c2ab5-956b-4389-8f0f-bcb0e5c95ccf	g.chr10:76603076T>G	ENST00000287239.4	+	3	950	c.461T>G	c.(460-462)cTg>cGg	p.L154R	KAT6B_ENST00000372711.1_Missense_Mutation_p.L154R|KAT6B_ENST00000372714.1_Missense_Mutation_p.L154R|KAT6B_ENST00000372724.1_Missense_Mutation_p.L154R|KAT6B_ENST00000372725.1_Missense_Mutation_p.L154R	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	154	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										CGGCTGCGACTGGGGGCCAAA	0.522																																						uc001jwn.1																			0											c.(460-462)cTg>cGg		Homo sapiens K(lysine) acetyltransferase 6B (KAT6B), mRNA.							64.0	64.0	64.0					10																	76603076		2203	4300	6503	SO:0001583	missense	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76603076T>G	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.461T>G	10.37:g.76603076T>G	ENSP00000287239:p.Leu154Arg					KAT6B_uc001jwm.1_Missense_Mutation_p.L154R|KAT6B_uc001jwo.1_Missense_Mutation_p.L154R|KAT6B_uc001jwp.1_Missense_Mutation_p.L154R	p.L154R	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN			2	954	+			154			H15.		O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	c.461T>G	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	T	16.38	3.106008	0.56291	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95	6.04	6.04	0.98038	.	0.000000	0.35970	N	0.002868	T	0.49847	0.1581	M	0.77103	2.36	0.34845	D	0.741092	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.64807	-0.6320	10	0.87932	D	0	-6.3665	16.5885	0.84745	0.0:0.0:0.0:1.0	.	154;154;154	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	R	154	ENSP00000361810:L154R;ENSP00000361809:L154R;ENSP00000287239:L154R;ENSP00000361799:L154R;ENSP00000361796:L154R	ENSP00000287239:L154R	L	+	2	0	KAT6B	76273082	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.698000	0.84413	2.317000	0.78254	0.460000	0.39030	CTG		0.522	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		3	63	0	0	0	1	0	3	63				
ADAMTS3	9508	broad.mit.edu	37	4	73156663	73156663	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1YE-01A-11D-A14W-08	TCGA-EM-A1YE-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d6e12e0-19a7-4e52-84a2-707bfc16568d	7b7c2ab5-956b-4389-8f0f-bcb0e5c95ccf	g.chr4:73156663C>T	ENST00000286657.4	-	20	2876	c.2840G>A	c.(2839-2841)aGc>aAc	p.S947N		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	947	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCAGTATTTGCTGTGCACAGA	0.582																																					NSCLC(168;1941 2048 2918 13048 43078)	uc003hgk.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(2839-2841)aGc>aAc		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 3 (ADAMTS3), mRNA.							147.0	124.0	132.0					4																	73156663		2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73156663C>T	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.2840G>A	4.37:g.73156663C>T	ENSP00000286657:p.Ser947Asn						p.S947N	NM_014243	NP_055058	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		19	2877	-			947			TSP type-1 3.		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.2840G>A	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	C	11.51	1.659568	0.29515	.	.	ENSG00000156140	ENST00000286657	T	0.60672	0.17	5.42	3.68	0.42216	.	0.226039	0.42682	N	0.000672	T	0.38453	0.1041	L	0.35593	1.075	0.39734	D	0.971643	B	0.09022	0.002	B	0.18263	0.021	T	0.20974	-1.0259	10	0.20046	T	0.44	.	3.0996	0.06322	0.1945:0.5347:0.1202:0.1506	.	947	O15072	ATS3_HUMAN	N	947	ENSP00000286657:S947N	ENSP00000286657:S947N	S	-	2	0	ADAMTS3	73375527	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	1.274000	0.33132	1.286000	0.44565	0.557000	0.71058	AGC		0.582	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			3	79	0	0	0	1	0	3	79				
MKL1	57591	broad.mit.edu	37	22	40815091	40815091	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1YE-01A-11D-A14W-08	TCGA-EM-A1YE-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d6e12e0-19a7-4e52-84a2-707bfc16568d	7b7c2ab5-956b-4389-8f0f-bcb0e5c95ccf	g.chr22:40815091G>A	ENST00000355630.3	-	12	1941	c.1351C>T	c.(1351-1353)Ccc>Tcc	p.P451S	MKL1_ENST00000407029.1_Missense_Mutation_p.P451S|MKL1_ENST00000402042.1_Missense_Mutation_p.P401S|MKL1_ENST00000396617.3_Missense_Mutation_p.P451S	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	451					negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GACACGGGGGGCGTGGAGCCC	0.677			T	RBM15	acute megakaryocytic leukemia																																	uc003ayw.1				Dom	yes		22	22q13	57591	T	megakaryoblastic leukemia (translocation) 1			L	RBM15		acute megakaryocytic leukemia		0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						c.(1351-1353)Ccc>Tcc		Homo sapiens megakaryoblastic leukemia (translocation) 1 (MKL1), mRNA.							14.0	13.0	13.0					22																	40815091		2195	4292	6487	SO:0001583	missense	57591				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	g.chr22:40815091G>A	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"""megakaryocytic acute leukemia"", ""myocardin-related transcription factor A"", ""basic, SAP and coiled-coil domain"""	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.1351C>T	22.37:g.40815091G>A	ENSP00000347847:p.Pro451Ser					MKL1_uc010gyf.1_Missense_Mutation_p.P401S|MKL1_uc010gye.1_Missense_Mutation_p.P451S|MKL1_uc003ayv.1_Missense_Mutation_p.P451S	p.P451S	NM_020831	NP_065882	Q969V6	MKL1_HUMAN			11	1943	-			451					Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Missense_Mutation	SNP	ENST00000355630.3	37	c.1351C>T	CCDS14003.1	.	.	.	.	.	.	.	.	.	.	G	11.83	1.754194	0.31046	.	.	ENSG00000196588	ENST00000355630;ENST00000396617;ENST00000402042;ENST00000407029	T;T;T;T	0.58358	0.44;0.34;0.34;0.44	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.67739	0.2925	M	0.91663	3.23	0.80722	D	1	D;B;P	0.53312	0.959;0.376;0.883	P;B;B	0.50109	0.631;0.073;0.327	T	0.71411	-0.4601	10	0.09084	T	0.74	-26.6888	18.3103	0.90197	0.0:0.0:1.0:0.0	.	401;451;451	B0QY83;E7ER32;Q969V6	.;.;MKL1_HUMAN	S	451;451;401;451	ENSP00000347847:P451S;ENSP00000379861:P451S;ENSP00000385584:P401S;ENSP00000385835:P451S	ENSP00000347847:P451S	P	-	1	0	MKL1	39145037	1.000000	0.71417	0.586000	0.28679	0.257000	0.26127	7.802000	0.85969	2.553000	0.86117	0.655000	0.94253	CCC		0.677	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		5	3	0	0	0	1	0	5	3				
DNAH7	56171	broad.mit.edu	37	2	196913064	196913064	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A1YE-01A-11D-A14W-08	TCGA-EM-A1YE-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d6e12e0-19a7-4e52-84a2-707bfc16568d	7b7c2ab5-956b-4389-8f0f-bcb0e5c95ccf	g.chr2:196913064T>C	ENST00000312428.6	-	4	306	c.206A>G	c.(205-207)gAt>gGt	p.D69G	DNAH7_ENST00000410072.1_Missense_Mutation_p.D69G	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	69	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TGGACTCTCATCATCCTGCTT	0.358																																						uc002utj.4																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(205-207)gAt>gGt		Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.							128.0	121.0	123.0					2																	196913064		1887	4119	6006	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196913064T>C	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.206A>G	2.37:g.196913064T>C	ENSP00000311273:p.Asp69Gly						p.D69G	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			3	307	-			69			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.206A>G	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	T	12.07	1.827964	0.32329	.	.	ENSG00000118997	ENST00000312428;ENST00000410072;ENST00000312446;ENST00000427816	T;T	0.24350	1.86;2.76	4.81	2.39	0.29439	.	1.917840	0.02155	N	0.058321	T	0.19765	0.0475	L	0.29908	0.895	0.09310	N	1	B	0.17038	0.02	B	0.14023	0.01	T	0.16217	-1.0410	10	0.27785	T	0.31	.	4.2472	0.10677	0.1757:0.0949:0.0:0.7294	.	69	Q8WXX0	DYH7_HUMAN	G	69;69;69;44	ENSP00000311273:D69G;ENSP00000386260:D69G	ENSP00000311273:D69G	D	-	2	0	DNAH7	196621309	0.004000	0.15560	0.000000	0.03702	0.182000	0.23217	1.502000	0.35704	0.417000	0.25871	0.477000	0.44152	GAT		0.358	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		6	37	0	0	0	1	0	6	37				
ZC3H4	23211	broad.mit.edu	37	19	47570455	47570455	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1YE-01A-11D-A14W-08	TCGA-EM-A1YE-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d6e12e0-19a7-4e52-84a2-707bfc16568d	7b7c2ab5-956b-4389-8f0f-bcb0e5c95ccf	g.chr19:47570455G>A	ENST00000253048.5	-	15	3107	c.3070C>T	c.(3070-3072)Cgg>Tgg	p.R1024W	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	1024							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GGGCGCTGCCGGGCGTTGGGG	0.706																																						uc002pga.4																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41						c.(3070-3072)Cgg>Tgg		Homo sapiens zinc finger CCCH-type containing 4 (ZC3H4), mRNA.							14.0	17.0	16.0					19																	47570455		1809	4040	5849	SO:0001583	missense	23211						nucleic acid binding|zinc ion binding	g.chr19:47570455G>A	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"""Zinc fingers, CCCH-type domain containing"""	17808	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 7"""	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.3070C>T	19.37:g.47570455G>A	ENSP00000253048:p.Arg1024Trp					ZC3H4_uc002pgb.1_Non-coding_Transcript	p.R1024W	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	14	3108	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	1024					Q9Y420	Missense_Mutation	SNP	ENST00000253048.5	37	c.3070C>T	CCDS42582.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.699618	0.48307	.	.	ENSG00000130749	ENST00000253048	T	0.19250	2.16	5.23	4.18	0.49190	.	0.691249	0.13538	N	0.380446	T	0.37128	0.0992	L	0.44542	1.39	0.41505	D	0.9883	D	0.89917	1.0	D	0.66847	0.947	T	0.08006	-1.0743	10	0.62326	D	0.03	.	12.724	0.57159	0.0:0.0:0.7019:0.298	.	1024	Q9UPT8	ZC3H4_HUMAN	W	1024	ENSP00000253048:R1024W	ENSP00000253048:R1024W	R	-	1	2	ZC3H4	52262295	1.000000	0.71417	0.988000	0.46212	0.114000	0.19823	1.272000	0.33109	1.315000	0.45114	0.558000	0.71614	CGG		0.706	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			12	9	0	0	0	1	0	12	9				
MSI1	4440	broad.mit.edu	37	12	120802533	120802533	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1YE-01A-11D-A14W-08	TCGA-EM-A1YE-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d6e12e0-19a7-4e52-84a2-707bfc16568d	7b7c2ab5-956b-4389-8f0f-bcb0e5c95ccf	g.chr12:120802533C>T	ENST00000257552.2	-	5	381	c.293G>A	c.(292-294)cGg>cAg	p.R98Q		NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	98	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				epithelial cell differentiation (GO:0030855)|nervous system development (GO:0007399)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTGTGCTCGCCGAGGGAAGGC	0.522																																						uc001tye.1																			0				breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19						c.(292-294)cGg>cAg		Homo sapiens musashi homolog 1 (Drosophila) (MSI1), mRNA.							180.0	178.0	179.0					12																	120802533		2203	4300	6503	SO:0001583	missense	4440				nervous system development	cytoplasm|nucleus	nucleotide binding	g.chr12:120802533C>T	AB012851	CCDS9196.1	12q24	2013-07-16	2012-12-13					"""RNA binding motif (RRM) containing"""	7330	protein-coding gene	gene with protein product		603328	"""Musashi (Drosophila) homolog 1"", ""musashi homolog 1 (Drosophila)"""			9790759	Standard	NM_002442		Approved		uc001tye.2	O43347	OTTHUMG00000169344	ENST00000257552.2:c.293G>A	12.37:g.120802533C>T	ENSP00000257552:p.Arg98Gln						p.R98Q	NM_002442	NP_002433	O43347	MSI1H_HUMAN			4	357	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		98			RRM 1.		Q96PU0|Q96PU1|Q96PU2|Q96PU3	Missense_Mutation	SNP	ENST00000257552.2	37	c.293G>A	CCDS9196.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.157859|5.157859	0.94686|0.94686	.|.	.|.	ENSG00000135097|ENSG00000135097	ENST00000546985|ENST00000257552	.|D	.|0.88664	.|-2.41	5.26|5.26	5.26|5.26	0.73747|0.73747	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	.|0.072118	.|0.53938	.|D	.|0.000045	D|D	0.93449|0.93449	0.7910|0.7910	M|M	0.64260|0.64260	1.97|1.97	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.68353	.|0.957	D|D	0.94038|0.94038	0.7307|0.7307	5|10	.|0.87932	.|D	.|0	.|.	18.4997|18.4997	0.90877|0.90877	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|98	.|O43347	.|MSI1H_HUMAN	S|Q	30|98	.|ENSP00000257552:R98Q	.|ENSP00000257552:R98Q	G|R	-|-	1|2	0|0	MSI1|MSI1	119286916|119286916	1.000000|1.000000	0.71417|0.71417	0.937000|0.937000	0.37676|0.37676	0.886000|0.886000	0.51366|0.51366	7.398000|7.398000	0.79919|0.79919	2.462000|2.462000	0.83206|0.83206	0.455000|0.455000	0.32223|0.32223	GGC|CGG		0.522	MSI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403629.1	NM_002442		46	90	0	0	0	1	0	46	90				
ARHGAP26	23092	broad.mit.edu	37	5	142150381	142150381	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EM-A1YE-01A-11D-A14W-08	TCGA-EM-A1YE-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d6e12e0-19a7-4e52-84a2-707bfc16568d	7b7c2ab5-956b-4389-8f0f-bcb0e5c95ccf	g.chr5:142150381C>T	ENST00000274498.4	+	1	433	c.55C>T	c.(55-57)Cga>Tga	p.R19*	ARHGAP26_ENST00000378004.3_Nonsense_Mutation_p.R19*	NM_015071.4	NP_055886.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	19					actin cytoskeleton organization (GO:0030036)|filopodium assembly (GO:0046847)|nervous system development (GO:0007399)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCGCACTTCCGAGAGACGCT	0.647																																						uc011dbj.2																			0		p.R19L(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25						c.(55-57)Cga>Tga		Homo sapiens Rho GTPase activating protein 26 (ARHGAP26), transcript variant 1, mRNA.							49.0	43.0	45.0					5																	142150381		2203	4300	6503	SO:0001587	stop_gained	23092				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	Rho GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity	g.chr5:142150381C>T	AB014521	CCDS4277.1, CCDS47297.1	5q31	2011-06-29			ENSG00000145819	ENSG00000145819		"""Rho GTPase activating proteins"""	17073	protein-coding gene	gene with protein product	"""GTPase regulator associated with the focal adhesion kinase pp125"""	605370				9858476, 8649427	Standard	NM_001135608		Approved	GRAF, KIAA0621, OPHN1L, OPHN1L1	uc011dbj.2	Q9UNA1	OTTHUMG00000059705	ENST00000274498.4:c.55C>T	5.37:g.142150381C>T	ENSP00000274498:p.Arg19*					ARHGAP26_uc003lmt.3_Nonsense_Mutation_p.R19*|ARHGAP26_uc003lmw.3_Nonsense_Mutation_p.R19*	p.R19*	NM_015071	NP_055886	Q9UNA1	RHG26_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		0	90	+		all_hematologic(541;0.0416)	19					O75117|Q5D035|Q9BYS6|Q9BYS7|Q9UJ00	Nonsense_Mutation	SNP	ENST00000274498.4	37	c.55C>T	CCDS4277.1	.	.	.	.	.	.	.	.	.	.	C	43	10.173406	0.99352	.	.	ENSG00000145819	ENST00000274498;ENST00000378004	.	.	.	5.61	4.73	0.59995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.8709	0.70456	0.1449:0.8551:0.0:0.0	.	.	.	.	X	19	.	ENSP00000274498:R19X	R	+	1	2	ARHGAP26	142130565	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	0.931000	0.28871	1.345000	0.45676	0.563000	0.77884	CGA		0.647	ARHGAP26-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132744.3	NM_015071		5	23	0	0	0	1	0	5	23				
TNRC18	84629	broad.mit.edu	37	7	5399130	5399130	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A1YE-01A-11D-A14W-08	TCGA-EM-A1YE-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d6e12e0-19a7-4e52-84a2-707bfc16568d	7b7c2ab5-956b-4389-8f0f-bcb0e5c95ccf	g.chr7:5399130C>G	ENST00000430969.1	-	15	5080	c.4732G>C	c.(4732-4734)Ggg>Cgg	p.G1578R	TNRC18_ENST00000399537.4_Missense_Mutation_p.G1578R	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1578							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TCCTCAGACCCCTTGTGTCTC	0.542																																						uc003soi.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(4732-4734)Ggg>Cgg		Homo sapiens trinucleotide repeat containing 18 (TNRC18), mRNA.							215.0	210.0	212.0					7																	5399130		2030	4196	6226	SO:0001583	missense	84629						DNA binding	g.chr7:5399130C>G	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.4732G>C	7.37:g.5399130C>G	ENSP00000395538:p.Gly1578Arg					TNRC18_uc003soj.3_5'Flank	p.G1578R	NM_001080495	NP_001073964	O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	14	5081	-		Ovarian(82;0.142)	1578					A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	c.4732G>C	CCDS47534.1	.	.	.	.	.	.	.	.	.	.	c	18.04	3.535371	0.64972	.	.	ENSG00000182095	ENST00000399537;ENST00000430969;ENST00000399544;ENST00000440081	T;T;T	0.50277	2.69;2.69;0.75	5.53	5.53	0.82687	.	0.000000	0.44483	D	0.000459	T	0.65626	0.2709	M	0.68952	2.095	0.39662	D	0.970621	D	0.89917	1.0	D	0.76575	0.988	T	0.60677	-0.7216	10	0.17369	T	0.5	.	17.6403	0.88133	0.0:1.0:0.0:0.0	.	1578	O15417	TNC18_HUMAN	R	1578;1578;633;68	ENSP00000382452:G1578R;ENSP00000395538:G1578R;ENSP00000395990:G68R	ENSP00000382452:G1578R	G	-	1	0	TNRC18	5365656	1.000000	0.71417	1.000000	0.80357	0.297000	0.27493	5.478000	0.66806	2.596000	0.87737	0.561000	0.74099	GGG		0.542	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				30	139	0	0	0	1	0	30	139				
GRIK3	2899	broad.mit.edu	37	1	37346338	37346338	+	Silent	SNP	G	G	A			TCGA-EM-A1YE-01A-11D-A14W-08	TCGA-EM-A1YE-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d6e12e0-19a7-4e52-84a2-707bfc16568d	7b7c2ab5-956b-4389-8f0f-bcb0e5c95ccf	g.chr1:37346338G>A	ENST00000373091.3	-	3	463	c.447C>T	c.(445-447)taC>taT	p.Y149Y	GRIK3_ENST00000373093.4_Silent_p.Y149Y	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	149					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				AGAGGTTCACGTAGAAGGTGT	0.602																																						uc001caz.2																			0				breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89						c.(445-447)taC>taT		Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	L-Glutamic Acid(DB00142)						348.0	300.0	316.0					1																	37346338		2203	4300	6503	SO:0001819	synonymous_variant	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr1:37346338G>A	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.447C>T	1.37:g.37346338G>A						GRIK3_uc001cba.1_Silent_p.Y149Y	p.Y149Y	NM_000831	NP_000822	Q13003	GRIK3_HUMAN			2	582	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	149					A9Z1Z8|B1AMS6|Q13004|Q16136	Silent	SNP	ENST00000373091.3	37	c.447C>T	CCDS416.1																																																																																				0.602	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		8	82	0	0	0	1	0	8	82				
OR1J2	26740	broad.mit.edu	37	9	125273560	125273560	+	Silent	SNP	C	C	T			TCGA-EM-A1YE-01A-11D-A14W-08	TCGA-EM-A1YE-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d6e12e0-19a7-4e52-84a2-707bfc16568d	7b7c2ab5-956b-4389-8f0f-bcb0e5c95ccf	g.chr9:125273560C>T	ENST00000335302.5	+	1	480	c.480C>T	c.(478-480)acC>acT	p.T160T		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	160						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						TCTCTCACACCCTTCTCCTGA	0.537																																						uc004bmj.2																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						c.(478-480)acC>acT		Homo sapiens olfactory receptor, family 1, subfamily J, member 2 (OR1J2), mRNA.							198.0	158.0	172.0					9																	125273560		2203	4300	6503	SO:0001819	synonymous_variant	26740				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125273560C>T		CCDS35121.1	9q33.2	2013-09-20			ENSG00000197233	ENSG00000197233		"""GPCR / Class A : Olfactory receptors"""	8209	protein-coding gene	gene with protein product				OR1J3, OR1J5			Standard	XM_005251920		Approved	OST044	uc011lyv.2	Q8NGS2	OTTHUMG00000020604	ENST00000335302.5:c.480C>T	9.37:g.125273560C>T						OR1J2_uc011lyv.2_Silent_p.T160T	p.T160T	NM_054107	NP_473448	Q8NGS2	OR1J2_HUMAN			3	806	+			160					A3KFL9|Q6IF14|Q96R90|Q9NZP1	Silent	SNP	ENST00000335302.5	37	c.480C>T	CCDS35121.1																																																																																				0.537	OR1J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053932.1			8	76	0	0	0	1	0	8	76				
METTL2B	55798	broad.mit.edu	37	7	128119449	128119449	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1YE-01A-11D-A14W-08	TCGA-EM-A1YE-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d6e12e0-19a7-4e52-84a2-707bfc16568d	7b7c2ab5-956b-4389-8f0f-bcb0e5c95ccf	g.chr7:128119449G>A	ENST00000262432.8	+	3	477	c.440G>A	c.(439-441)aGc>aAc	p.S147N	METTL2B_ENST00000480046.1_Missense_Mutation_p.S82N|RP11-212P7.3_ENST00000462662.1_RNA	NM_018396.2	NP_060866.2	Q6P1Q9	MET2B_HUMAN	methyltransferase like 2B	147					tRNA methylation (GO:0030488)		tRNA (cytosine) methyltransferase activity (GO:0016427)			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						TCTTCGAAGAGCCTTGAACAT	0.418																																						uc003vnf.3																			0				breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(439-441)aGc>aAc		Homo sapiens methyltransferase like 2B (METTL2B), mRNA.							164.0	177.0	173.0					7																	128119449		2203	4300	6503	SO:0001583	missense	55798						methyltransferase activity	g.chr7:128119449G>A	AK002212	CCDS5803.2	7q32.2	2012-06-12	2006-02-09	2006-02-09	ENSG00000165055	ENSG00000165055			18272	protein-coding gene	gene with protein product		607846	"""methyltransferase like 2"""	METTL2		11738826	Standard	NM_018396		Approved	METL, FLJ11350	uc003vnf.3	Q6P1Q9	OTTHUMG00000143738	ENST00000262432.8:c.440G>A	7.37:g.128119449G>A	ENSP00000262432:p.Ser147Asn					METTL2B_uc003vng.3_Missense_Mutation_p.S82N|METTL2B_uc011kop.2_Missense_Mutation_p.S11N	p.S147N	NM_018396	NP_060866	Q6P1Q9	MTL2B_HUMAN			2	477	+			147					B4DZ68|Q0IJ54|Q3B7J1	Missense_Mutation	SNP	ENST00000262432.8	37	c.440G>A	CCDS5803.2	.	.	.	.	.	.	.	.	.	.	G	8.159	0.789078	0.16258	.	.	ENSG00000165055	ENST00000462662;ENST00000262432;ENST00000480046	T;D;T	0.82081	2.21;-1.57;2.74	2.65	2.65	0.31530	.	0.971746	0.08556	N	0.928217	T	0.76779	0.4035	L	0.50333	1.59	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.09377	0.004;0.001	T	0.60265	-0.7297	10	0.19590	T	0.45	-4.6257	8.9073	0.35532	0.0:0.0:1.0:0.0	.	82;147	Q6P1Q9-2;Q6P1Q9	.;MTL2B_HUMAN	N	141;147;82	ENSP00000418634:S141N;ENSP00000262432:S147N;ENSP00000418402:S82N	ENSP00000262432:S147N	S	+	2	0	METTL2B	127906685	0.066000	0.20996	0.011000	0.14972	0.116000	0.19942	2.151000	0.42263	1.492000	0.48499	0.405000	0.27470	AGC		0.418	METTL2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289817.1	NM_018396		18	89	0	0	0	1	0	18	89				
CD1A	909	broad.mit.edu	37	1	158225840	158225840	+	Silent	SNP	A	A	G			TCGA-EM-A1YE-01A-11D-A14W-08	TCGA-EM-A1YE-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d6e12e0-19a7-4e52-84a2-707bfc16568d	7b7c2ab5-956b-4389-8f0f-bcb0e5c95ccf	g.chr1:158225840A>G	ENST00000289429.5	+	3	905	c.372A>G	c.(370-372)ggA>ggG	p.G124G		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	124					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	TGCACTCTGGAAAGGTCTCAG	0.428																																						uc001frt.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32						c.(370-372)ggA>ggG		Homo sapiens CD1a molecule (CD1A), mRNA.	Antithymocyte globulin(DB00098)						84.0	81.0	82.0					1																	158225840		2203	4300	6503	SO:0001819	synonymous_variant	909				antigen processing and presentation|immune response	MHC class I protein complex|endosome membrane|integral to plasma membrane		g.chr1:158225840A>G	M28825	CCDS1174.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158477	ENSG00000158477		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1634	protein-coding gene	gene with protein product		188370	"""CD1A antigen, a polypeptide"", ""CD1a antigen"""	CD1		2447586, 2784820	Standard	NM_001763		Approved		uc001frt.3	P06126	OTTHUMG00000017512	ENST00000289429.5:c.372A>G	1.37:g.158225840A>G						CD1A_uc021pbk.1_5'Flank	p.G124G	NM_001763	NP_001754	P06126	CD1A_HUMAN			2	905	+	all_hematologic(112;0.0378)		124					D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	Silent	SNP	ENST00000289429.5	37	c.372A>G	CCDS1174.1																																																																																				0.428	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046349.2	NM_001763		4	79	0	0	0	1	0	4	79				
DGKB	1607	broad.mit.edu	37	7	14378197	14378198	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EM-A1YE-01A-11D-A14W-08	TCGA-EM-A1YE-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d6e12e0-19a7-4e52-84a2-707bfc16568d	7b7c2ab5-956b-4389-8f0f-bcb0e5c95ccf	g.chr7:14378197_14378198insT	ENST00000403951.2	-	23	2486_2487	c.2067_2068insA	c.(2065-2070)aaagggfs	p.G690fs	DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000258767.5_Frame_Shift_Ins_p.G690fs|DGKB_ENST00000399322.3_Frame_Shift_Ins_p.G690fs|DGKB_ENST00000407950.1_Frame_Shift_Ins_p.G682fs|DGKB_ENST00000402815.1_Frame_Shift_Ins_p.G689fs|DGKB_ENST00000406247.3_Frame_Shift_Ins_p.G690fs|DGKB_ENST00000444700.2_Frame_Shift_Ins_p.G671fs			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	690					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						TTGTCAGACCCTTTTTTCTCTA	0.401																																						uc003ssz.3																			0		p.G690V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(2065-2070)aaagggfs		Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA.	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	1607				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	g.chr7:14378197_14378198insT	AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"""EF-hand domain containing"""	2850	protein-coding gene	gene with protein product		604070	"""diacylglycerol kinase, beta (90kD)"""	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.2068dupA	7.37:g.14378203_14378203dupT	ENSP00000385780:p.Gly690fs					DGKB_uc011jxt.2_Frame_Shift_Ins_p.K670fs|DGKB_uc003sta.3_Frame_Shift_Ins_p.K689fs|DGKB_uc011jxu.2_Frame_Shift_Ins_p.K688fs	p.K689fs	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN			21	2254_2255	-			689					A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Frame_Shift_Ins	INS	ENST00000403951.2	37	c.2067_2068insA	CCDS47547.1																																																																																				0.401	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080		29	52						29	52	---	---	---	---
