#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
FUT3	2525	broad.mit.edu	37	19	5844672	5844672	+	Missense_Mutation	SNP	C	C	G	rs148881389	byFrequency	TCGA-EJ-A46I-01A-12D-A26M-08	TCGA-EJ-A46I-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8cf1bbc-43e5-41b0-a9c7-bd58e88a2e8e	c0472d02-3ce9-46a1-a7af-29b75e27cb95	g.chr19:5844672C>G	ENST00000303225.6	-	3	813	c.179G>C	c.(178-180)cGc>cCc	p.R60P	FUT3_ENST00000589918.1_Missense_Mutation_p.R60P|AC024592.9_ENST00000589276.1_RNA|FUT3_ENST00000589620.1_Missense_Mutation_p.R60P|FUT3_ENST00000593144.1_5'Flank|FUT3_ENST00000458379.2_Missense_Mutation_p.R60P	NM_000149.3	NP_000140	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	60					cell-cell recognition (GO:0009988)|fucosylation (GO:0036065)|macromolecule glycosylation (GO:0043413)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						GAGGGTGGGGCGGGTGGGAGT	0.632																																					Esophageal Squamous(82;745 1728 24593 44831)	ENST00000303225.6																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						c.(178-180)cGc>cCc		fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)							24.0	27.0	26.0					19																	5844672		2201	4298	6499	SO:0001583	missense	2525				protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity	g.chr19:5844672C>G		CCDS12153.1	19p13.3	2014-07-19	2006-01-12		ENSG00000171124	ENSG00000171124	2.4.1.65	"""CD molecules"", ""Blood group antigens"", ""Fucosyltransferases"""	4014	protein-coding gene	gene with protein product		111100	"""fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group included)"""	LE		1977660, 1740457	Standard	NM_000149		Approved	CD174	uc002mdk.2	P21217	OTTHUMG00000180614	ENST00000303225.6:c.179G>C	19.37:g.5844672C>G	ENSP00000305603:p.Arg60Pro					FUT3_ENST00000458379.2_Missense_Mutation_p.R60P|FUT3_ENST00000589620.1_Missense_Mutation_p.R60P|FUT3_ENST00000589918.1_Missense_Mutation_p.R60P	p.R60P	NM_000149.3	NP_000140.1	P21217	FUT3_HUMAN			3	813	-			60					B5U7U9|B5U7V0|Q32NE7|Q99448|Q99449	Missense_Mutation	SNP	ENST00000303225.6	37	c.179G>C	CCDS12153.1	.	.	.	.	.	.	.	.	.	.	C	9.278	1.047345	0.19827	.	.	ENSG00000171124	ENST00000303225;ENST00000458379	T;T	0.23348	1.91;1.91	2.33	-2.22	0.06952	.	29.287000	0.00496	N	0.000142	T	0.13798	0.0334	N	0.16016	0.355	0.09310	N	1	B;B;B;B	0.09022	0.002;0.002;0.001;0.002	B;B;B;B	0.09377	0.003;0.003;0.004;0.003	T	0.17930	-1.0353	10	0.39692	T	0.17	.	2.0701	0.03611	0.2532:0.3958:0.0:0.3511	.	60;60;60;60	B3W6H0;A8K737;B3GVC1;P21217	.;.;.;FUT3_HUMAN	P	60	ENSP00000305603:R60P;ENSP00000416443:R60P	ENSP00000305603:R60P	R	-	2	0	FUT3	5795672	0.000000	0.05858	0.003000	0.11579	0.363000	0.29612	-3.737000	0.00379	-0.116000	0.11893	0.205000	0.17691	CGC		0.632	FUT3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452204.1	NM_000149		9	29	0	0	0	1	0	9	29				
UTP15	84135	broad.mit.edu	37	5	72865483	72865483	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A46I-01A-12D-A26M-08	TCGA-EJ-A46I-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8cf1bbc-43e5-41b0-a9c7-bd58e88a2e8e	c0472d02-3ce9-46a1-a7af-29b75e27cb95	g.chr5:72865483C>T	ENST00000296792.4	+	5	785	c.530C>T	c.(529-531)cCg>cTg	p.P177L	UTP15_ENST00000508491.1_Missense_Mutation_p.P158L|UTP15_ENST00000543251.1_5'UTR	NM_001284431.1|NM_032175.2	NP_001271360.1|NP_115551.2	Q8TED0	UTP15_HUMAN	UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae)	177					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)		AAACTTAATCCGGATCTCTTT	0.373																																						ENST00000296792.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15						c.(529-531)cCg>cTg		UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae)							105.0	112.0	109.0					5																	72865483		2203	4300	6503	SO:0001583	missense	84135				rRNA processing	cytoplasm|nucleolus		g.chr5:72865483C>T	AL831972	CCDS34186.1, CCDS68893.1, CCDS68894.1	5q13.2	2013-01-10	2006-04-20		ENSG00000164338	ENSG00000164338		"""WD repeat domain containing"""	25758	protein-coding gene	gene with protein product			"""UTP15, U3 small nucleolar ribonucleoprotein, homolog (yeast)"""			12477932	Standard	NM_032175		Approved	FLJ12787, NET21, FLJ23637	uc003kcw.1	Q8TED0	OTTHUMG00000162453	ENST00000296792.4:c.530C>T	5.37:g.72865483C>T	ENSP00000296792:p.Pro177Leu					UTP15_ENST00000508491.1_Missense_Mutation_p.P158L|UTP15_ENST00000543251.1_5'UTR	p.P177L	NM_032175.2	NP_115551.2	Q8TED0	UTP15_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)	5	785	+		Lung NSC(167;0.00405)|Ovarian(174;0.0129)	177					B4DU75|B4DXK8|Q6IA60|Q96E08|Q9H9F8	Missense_Mutation	SNP	ENST00000296792.4	37	c.530C>T	CCDS34186.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.73|13.73	2.325387|2.325387	0.41197|0.41197	.|.	.|.	ENSG00000164338|ENSG00000164338	ENST00000296792;ENST00000508491|ENST00000509005	T;T|.	0.19532|.	2.14;2.14|.	5.79|5.79	4.87|4.87	0.63330|0.63330	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.689312|.	0.15786|.	N|.	0.244677|.	T|T	0.64427|0.64427	0.2597|0.2597	M|M	0.62266|0.62266	1.93|1.93	0.80722|0.80722	D|D	1|1	P;B|.	0.36378|.	0.55;0.396|.	B;B|.	0.25987|.	0.065;0.065|.	T|T	0.62006|0.62006	-0.6945|-0.6945	10|5	0.42905|.	T|.	0.14|.	.|.	10.7341|10.7341	0.46115|0.46115	0.2451:0.6323:0.1225:0.0|0.2451:0.6323:0.1225:0.0	.|.	158;177|.	B4DXK8;Q8TED0|.	.;UTP15_HUMAN|.	L|W	177;158|204	ENSP00000296792:P177L;ENSP00000424609:P158L|.	ENSP00000296792:P177L|.	P|R	+|+	2|1	0|2	UTP15|UTP15	72901239|72901239	0.738000|0.738000	0.28186|0.28186	0.996000|0.996000	0.52242|0.52242	0.978000|0.978000	0.69477|0.69477	2.938000|2.938000	0.48987|0.48987	2.733000|2.733000	0.93635|0.93635	0.655000|0.655000	0.94253|0.94253	CCG|CGG		0.373	UTP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368965.1	NM_032175		4	32	0	0	0	1	0	4	32				
MBD3	53615	broad.mit.edu	37	19	1585131	1585131	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A46I-01A-12D-A26M-08	TCGA-EJ-A46I-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8cf1bbc-43e5-41b0-a9c7-bd58e88a2e8e	c0472d02-3ce9-46a1-a7af-29b75e27cb95	g.chr19:1585131G>T	ENST00000434436.3	-	2	322	c.193C>A	c.(193-195)Cgc>Agc	p.R65S	MBD3_ENST00000156825.1_Missense_Mutation_p.R65S|MBD3_ENST00000590550.2_Missense_Mutation_p.R9S|MBD3_ENST00000585967.1_5'UTR|AC005943.4_ENST00000592406.1_RNA|MBD3_ENST00000592012.1_Missense_Mutation_p.R33S|UQCR11_ENST00000585937.1_3'UTR	NM_001281453.1	NP_001268382.1	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	65	MBD. {ECO:0000255|PROSITE- ProRule:PRU00338}.				ATP-dependent chromatin remodeling (GO:0043044)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|tissue development (GO:0009888)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGCCCGTGCGGAAGTCGAAG	0.657																																						ENST00000590550.2																			0				central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(25-27)Cgc>Agc		methyl-CpG binding domain protein 3							79.0	55.0	63.0					19																	1585131		2203	4300	6503	SO:0001583	missense	53615				transcription, DNA-dependent	NuRD complex	DNA binding|protein binding	g.chr19:1585131G>T	AF072247	CCDS12072.1, CCDS62481.1	19p13	2008-07-17				ENSG00000071655			6918	protein-coding gene	gene with protein product		603573				9774669, 10441743	Standard	NM_001281454		Approved		uc002ltl.1	O95983		ENST00000434436.3:c.193C>A	19.37:g.1585131G>T	ENSP00000412302:p.Arg65Ser					MBD3_ENST00000585967.1_5'UTR|MBD3_ENST00000156825.1_Missense_Mutation_p.R65S|MBD3_ENST00000592012.1_Missense_Mutation_p.R33S|MBD3_ENST00000434436.3_Missense_Mutation_p.R65S	p.R9S			O95983	MBD3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)	1	398	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	65			MBD.		A8K4B7|D6W5Z2|Q6PIL9|Q6PJZ9|Q86XF4	Missense_Mutation	SNP	ENST00000434436.3	37	c.25C>A	CCDS12072.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.612472	0.87258	.	.	ENSG00000071655	ENST00000434436;ENST00000156825	D	0.99311	-5.73	5.09	5.09	0.68999	Methyl-CpG DNA binding (4);DNA-binding, integrase-type (1);	0.051815	0.85682	D	0.000000	D	0.99162	0.9710	L	0.55017	1.72	0.53688	D	0.999977	D;P	0.89917	1.0;0.766	D;P	0.87578	0.998;0.5	D	0.99846	1.1066	10	0.54805	T	0.06	-36.7404	17.4574	0.87611	0.0:0.0:1.0:0.0	.	33;65	O95983-2;O95983	.;MBD3_HUMAN	S	33;65	ENSP00000156825:R65S	ENSP00000156825:R65S	R	-	1	0	MBD3	1536131	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.278000	0.72614	2.373000	0.80994	0.462000	0.41574	CGC		0.657	MBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449658.2	NM_003926		3	23	1	0	1	1	1	3	23				
XPO4	64328	broad.mit.edu	37	13	21417934	21417934	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-A46I-01A-12D-A26M-08	TCGA-EJ-A46I-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8cf1bbc-43e5-41b0-a9c7-bd58e88a2e8e	c0472d02-3ce9-46a1-a7af-29b75e27cb95	g.chr13:21417934T>A	ENST00000255305.6	-	5	619	c.548A>T	c.(547-549)cAt>cTt	p.H183L	XPO4_ENST00000400602.2_Missense_Mutation_p.H183L			Q9C0E2	XPO4_HUMAN	exportin 4	183					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		GCAGTTACCATGGAATTCCAT	0.338																																						ENST00000400602.2																			0				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41						c.(547-549)cAt>cTt		exportin 4							108.0	98.0	101.0					13																	21417934		1837	4085	5922	SO:0001583	missense	64328				protein transport	cytoplasm|nucleus	protein binding	g.chr13:21417934T>A	AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"""Exportins"""	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.548A>T	13.37:g.21417934T>A	ENSP00000255305:p.His183Leu					XPO4_ENST00000255305.6_Missense_Mutation_p.H183L	p.H183L	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)	5	583	-		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	183					Q5VUZ5|Q8N3V6|Q9H934	Missense_Mutation	SNP	ENST00000255305.6	37	c.548A>T	CCDS41872.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.674251	0.88445	.	.	ENSG00000132953	ENST00000400602;ENST00000456108;ENST00000255305	T;T	0.64438	-0.1;-0.1	6.07	6.07	0.98685	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80727	0.4678	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.82643	-0.0356	10	0.62326	D	0.03	-7.7734	16.6407	0.85098	0.0:0.0:0.0:1.0	.	183	Q9C0E2	XPO4_HUMAN	L	183;53;183	ENSP00000383444:H183L;ENSP00000255305:H183L	ENSP00000255305:H183L	H	-	2	0	XPO4	20315934	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.698000	0.84413	2.326000	0.78906	0.533000	0.62120	CAT		0.338	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044096.1	NM_022459		6	27	0	0	0	1	0	6	27				
TUBB8P7	197331	broad.mit.edu	37	16	90161864	90161864	+	RNA	SNP	C	C	T			TCGA-EJ-A46I-01A-12D-A26M-08	TCGA-EJ-A46I-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8cf1bbc-43e5-41b0-a9c7-bd58e88a2e8e	c0472d02-3ce9-46a1-a7af-29b75e27cb95	g.chr16:90161864C>T	ENST00000564451.1	+	0	1217				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		ATGAGACCTTCTGCATAGATA	0.517																																						ENST00000567960.1																			0																																																			0							g.chr16:90161864C>T			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161864C>T						TUBB8P7_ENST00000564451.1_RNA								0	600	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.517	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		4	46	0	0	0	1	0	4	46				
LOC101929950	101929950	broad.mit.edu	37	17	36365080	36365080	+	Missense_Mutation	SNP	C	C	G	rs185450970		TCGA-EJ-A46I-01A-12D-A26M-08	TCGA-EJ-A46I-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8cf1bbc-43e5-41b0-a9c7-bd58e88a2e8e	c0472d02-3ce9-46a1-a7af-29b75e27cb95	g.chr17:36365080C>G	ENST00000312412.4	-	4	514	c.515G>C	c.(514-516)cGc>cCc	p.R172P	RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.R17P																kidney(1)|lung(3)	4						AGCAGCATAGCGCACCTCTCC	0.368																																						ENST00000312412.4																			0				kidney(1)|lung(3)	4						c.(514-516)cGc>cCc																																						SO:0001583	missense	0							g.chr17:36365080C>G																												ENST00000312412.4:c.515G>C	17.37:g.36365080C>G	ENSP00000308540:p.Arg172Pro					RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.R17P	p.R172P							4	514	-									Missense_Mutation	SNP	ENST00000312412.4	37	c.515G>C		.	.	.	.	.	.	.	.	.	.	C	12.72	2.022170	0.35701	.	.	ENSG00000174093	ENST00000544906;ENST00000520237;ENST00000312412;ENST00000518004	T;T;T;T	0.02737	4.18;4.18;4.18;4.18	2.61	2.61	0.31194	.	0.000000	0.85682	D	0.000000	T	0.08714	0.0216	.	.	.	.	.	.	.	.	.	.	.	.	T	0.14671	-1.0464	6	0.87932	D	0	.	13.2566	0.60083	0.0:1.0:0.0:0.0	.	.	.	.	P	17;172;172;168	ENSP00000444117:R17P;ENSP00000428261:R172P;ENSP00000308540:R172P;ENSP00000428330:R168P	ENSP00000308540:R172P	R	-	2	0	RP11-1407O15.2	33618886	1.000000	0.71417	1.000000	0.80357	0.623000	0.37688	7.568000	0.82369	1.457000	0.47850	0.194000	0.17425	CGC		0.368	RP11-1407O15.2-202	KNOWN	basic|appris_principal	protein_coding	protein_coding				6	36	0	0	0	1	0	6	36				
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G	rs372894655	byFrequency	TCGA-EJ-A46I-01A-12D-A26M-08	TCGA-EJ-A46I-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8cf1bbc-43e5-41b0-a9c7-bd58e88a2e8e	c0472d02-3ce9-46a1-a7af-29b75e27cb95	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532			T	MLL	ALL								A|||	612	0.122204	0.1505	0.1066	5008	,	,		12422	0.0833		0.0716	False		,,,				2504	0.1871					ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		19	Substitution - coding silent(19)	p.S167S(19)	lung(8)|kidney(5)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(499-501)agT>agC		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414343		1537	3257	4794	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414343A>G	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.501T>C	9.37:g.20414343A>G						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S	p.S167S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	787	-			167			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.501T>C	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		5	34	0	0	0	1	0	5	34				
ZNF331	55422	broad.mit.edu	37	19	54080131	54080131	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-A46I-01A-12D-A26M-08	TCGA-EJ-A46I-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8cf1bbc-43e5-41b0-a9c7-bd58e88a2e8e	c0472d02-3ce9-46a1-a7af-29b75e27cb95	g.chr19:54080131A>T	ENST00000253144.9	+	7	1650	c.317A>T	c.(316-318)aAt>aTt	p.N106I	ZNF331_ENST00000511593.2_Missense_Mutation_p.N106I|ZNF331_ENST00000511154.1_Missense_Mutation_p.N106I|ZNF331_ENST00000513265.1_Intron|ZNF331_ENST00000449416.1_Missense_Mutation_p.N106I|ZNF331_ENST00000513999.1_Missense_Mutation_p.N106I|ZNF331_ENST00000411977.2_Missense_Mutation_p.N106I|ZNF331_ENST00000512387.1_Missense_Mutation_p.N106I	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	106					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		ATGATCATCAATTATGTCAAA	0.453			T	?	follicular thyroid adenoma																																	ENST00000253144.9				Dom	yes		19	19q13.3-q13.4	55422	T	zinc finger protein 331			E	?		follicular thyroid adenoma		0				NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10						c.(316-318)aAt>aTt		zinc finger protein 331							90.0	93.0	92.0					19																	54080131		2203	4300	6503	SO:0001583	missense	55422				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:54080131A>T	AF251515	CCDS33102.1	19q13	2013-12-10				ENSG00000130844		"""Zinc fingers, C2H2-type"", ""-"""	15489	protein-coding gene	gene with protein product	"""rearranged in thyroid adenomas"""	606043					Standard	NM_001079906		Approved	RITA, ZNF463, ZNF361	uc021uzh.1	Q9NQX6		ENST00000253144.9:c.317A>T	19.37:g.54080131A>T	ENSP00000253144:p.Asn106Ile					ZNF331_ENST00000449416.1_Missense_Mutation_p.N106I|ZNF331_ENST00000411977.2_Missense_Mutation_p.N106I|ZNF331_ENST00000513265.1_Intron|ZNF331_ENST00000512387.1_Missense_Mutation_p.N106I|ZNF331_ENST00000511593.2_Missense_Mutation_p.N106I|ZNF331_ENST00000511154.1_Missense_Mutation_p.N106I|ZNF331_ENST00000513999.1_Missense_Mutation_p.N106I	p.N106I	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN		GBM - Glioblastoma multiforme(134;0.00555)	7	1650	+			106					Q96GJ4	Missense_Mutation	SNP	ENST00000253144.9	37	c.317A>T	CCDS33102.1	.	.	.	.	.	.	.	.	.	.	A	4.076	0.012018	0.07912	.	.	ENSG00000130844	ENST00000253144;ENST00000511593;ENST00000449416;ENST00000411977;ENST00000511154;ENST00000513999;ENST00000512387;ENST00000514022;ENST00000505949	T;T;T;T;T;T;T;T;T	0.08458	3.23;3.23;3.23;3.23;3.23;3.23;3.23;3.31;3.09	2.64	-3.2	0.05156	.	1.025130	0.07840	N	0.962843	T	0.06645	0.0170	L	0.38175	1.15	0.09310	N	1	B	0.12630	0.006	B	0.12156	0.007	T	0.40590	-0.9555	10	0.41790	T	0.15	.	6.4745	0.22028	0.234:0.0:0.5979:0.1681	.	106	Q9NQX6	ZN331_HUMAN	I	106	ENSP00000253144:N106I;ENSP00000427439:N106I;ENSP00000393817:N106I;ENSP00000393336:N106I;ENSP00000421014:N106I;ENSP00000423156:N106I;ENSP00000421728:N106I;ENSP00000422471:N106I;ENSP00000427532:N106I	ENSP00000253144:N106I	N	+	2	0	ZNF331	58771943	.	.	0.000000	0.03702	0.002000	0.02628	.	.	-0.924000	0.03780	-0.456000	0.05471	AAT		0.453	ZNF331-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371366.1	NM_018555		4	48	0	0	0	1	0	4	48				
ZDHHC14	79683	broad.mit.edu	37	6	158093924	158093924	+	Missense_Mutation	SNP	G	G	A	rs368519191		TCGA-EJ-A46I-01A-12D-A26M-08	TCGA-EJ-A46I-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8cf1bbc-43e5-41b0-a9c7-bd58e88a2e8e	c0472d02-3ce9-46a1-a7af-29b75e27cb95	g.chr6:158093924G>A	ENST00000359775.5	+	9	2126	c.1237G>A	c.(1237-1239)Gcc>Acc	p.A413T	ZDHHC14_ENST00000341375.8_3'UTR|ZDHHC14_ENST00000414563.2_Missense_Mutation_p.A398T			Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14	413					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		CACACCGCCCGCCTCCATGCC	0.721																																						ENST00000359775.5																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17						c.(1237-1239)Gcc>Acc		zinc finger, DHHC-type containing 14		G	THR/ALA,THR/ALA	1,4363		0,1,2181	14.0	14.0	14.0		1192,1237	3.3	1.0	6		14	0,8498		0,0,4249	no	missense,missense	ZDHHC14	NM_153746.1,NM_024630.2	58,58	0,1,6430	AA,AG,GG		0.0,0.0229,0.0078	benign,benign	398/474,413/489	158093924	1,12861	2182	4249	6431	SO:0001583	missense	79683					integral to membrane	acyltransferase activity|zinc ion binding	g.chr6:158093924G>A	AF542388	CCDS5252.1, CCDS47510.1	6q25.3	2008-05-02			ENSG00000175048	ENSG00000175048		"""Zinc fingers, DHHC-type"""	20341	protein-coding gene	gene with protein product							Standard	NM_024630		Approved	FLJ20984, NEW1CP	uc003qqt.3	Q8IZN3	OTTHUMG00000015896	ENST00000359775.5:c.1237G>A	6.37:g.158093924G>A	ENSP00000352821:p.Ala413Thr					ZDHHC14_ENST00000414563.2_Missense_Mutation_p.A398T|ZDHHC14_ENST00000341375.8_3'UTR	p.A413T			Q8IZN3	ZDH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)	9	2126	+		Breast(66;0.00586)|Ovarian(120;0.123)	413					A6NDB7|Q5JS07|Q5JS08|Q6PHS4|Q8IZN2|Q9H7F1	Missense_Mutation	SNP	ENST00000359775.5	37	c.1237G>A	CCDS5252.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.104488	0.37145	2.29E-4	0.0	ENSG00000175048	ENST00000359775;ENST00000414563;ENST00000538483	T;T	0.25749	1.78;1.78	5.62	3.27	0.37495	.	0.603917	0.17474	N	0.172965	T	0.03477	0.0100	N	0.03608	-0.345	0.35970	D	0.835255	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.38045	-0.9679	10	0.18710	T	0.47	-20.7431	6.2295	0.20726	0.0:0.1435:0.1431:0.7133	.	413;398	Q8IZN3;Q8IZN3-2	ZDH14_HUMAN;.	T	413;398;417	ENSP00000352821:A413T;ENSP00000410713:A398T	ENSP00000352821:A413T	A	+	1	0	ZDHHC14	158013912	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	1.590000	0.36654	2.642000	0.89623	0.563000	0.77884	GCC		0.721	ZDHHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042841.2	NM_153746		3	14	0	0	0	1	0	3	14				
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-EJ-A46I-01A-12D-A26M-08	TCGA-EJ-A46I-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8cf1bbc-43e5-41b0-a9c7-bd58e88a2e8e	c0472d02-3ce9-46a1-a7af-29b75e27cb95	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		5	Substitution - coding silent(5)	p.S168S(5)	lung(2)|urinary_tract(1)|endometrium(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(502-504)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	16.0	13.0					9																	20414340		1646	3412	5058	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414340G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.504C>T	9.37:g.20414340G>A						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S	p.S168S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	790	-			168			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.504C>T	CCDS6494.1																																																																																				0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		5	36	0	0	0	1	0	5	36				
RYR3	6263	broad.mit.edu	37	15	33941374	33941374	+	Silent	SNP	C	C	T			TCGA-EJ-A46I-01A-12D-A26M-08	TCGA-EJ-A46I-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8cf1bbc-43e5-41b0-a9c7-bd58e88a2e8e	c0472d02-3ce9-46a1-a7af-29b75e27cb95	g.chr15:33941374C>T	ENST00000389232.4	+	31	4150	c.4080C>T	c.(4078-4080)gaC>gaT	p.D1360D	RYR3_ENST00000415757.3_Silent_p.D1360D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1360	4 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AAAAGTTTGACCTGAATAAAA	0.532																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(4078-4080)gaC>gaT		ryanodine receptor 3							132.0	134.0	133.0					15																	33941374		1955	4134	6089	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33941374C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.4080C>T	15.37:g.33941374C>T						RYR3_ENST00000415757.3_Silent_p.D1360D	p.D1360D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	31	4150	+		all_lung(180;7.18e-09)	1360			4 X approximate repeats.|B30.2/SPRY 3.		O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.4080C>T	CCDS45210.1																																																																																				0.532	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			6	102	0	0	0	1	0	6	102				
SDHAP1	255812	broad.mit.edu	37	3	195717061	195717061	+	RNA	SNP	C	C	A	rs182566717		TCGA-EJ-A46I-01A-12D-A26M-08	TCGA-EJ-A46I-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8cf1bbc-43e5-41b0-a9c7-bd58e88a2e8e	c0472d02-3ce9-46a1-a7af-29b75e27cb95	g.chr3:195717061C>A	ENST00000427841.1	-	0	89					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		AGGGACTCACCGCCTTGGCCA	0.791																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195717061C>A	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195717061C>A								NR_003264.2						0	89	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.791	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			4	11	1	0	2.56e-06	1	3.11652e-06	4	11				
DTNA	1837	broad.mit.edu	37	18	32418795	32418795	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A46I-01A-12D-A26M-08	TCGA-EJ-A46I-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8cf1bbc-43e5-41b0-a9c7-bd58e88a2e8e	c0472d02-3ce9-46a1-a7af-29b75e27cb95	g.chr18:32418795C>A	ENST00000399113.3	+	12	1259	c.1259C>A	c.(1258-1260)cCc>cAc	p.P420H	DTNA_ENST00000601125.1_Intron|DTNA_ENST00000597674.1_Intron|DTNA_ENST00000444659.1_Missense_Mutation_p.P420H|DTNA_ENST00000598774.1_Intron|DTNA_ENST00000269190.7_Missense_Mutation_p.P421H|DTNA_ENST00000399097.3_Intron|DTNA_ENST00000598334.1_Intron|DTNA_ENST00000269191.6_Missense_Mutation_p.P420H|DTNA_ENST00000598142.1_Intron|DTNA_ENST00000595022.1_Intron|DTNA_ENST00000597599.1_Intron|DTNA_ENST00000591182.1_Intron|DTNA_ENST00000556414.3_Intron|DTNA_ENST00000399121.5_Intron|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000283365.9_Intron|DTNA_ENST00000599844.1_Intron|DTNA_ENST00000348997.5_Missense_Mutation_p.P417H|DTNA_ENST00000269192.7_Missense_Mutation_p.P129H			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	420	Syntrophin-binding region.				neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						CGGAACAACCCCTCATGGTTA	0.512																																						ENST00000444659.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(1258-1260)cCc>cAc		dystrobrevin, alpha							159.0	116.0	130.0					18																	32418795		2203	4300	6503	SO:0001583	missense	1837				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	g.chr18:32418795C>A	U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"""dystrophin-related protein 3"""	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.1259C>A	18.37:g.32418795C>A	ENSP00000382064:p.Pro420His					DTNA_ENST00000591182.1_Intron|DTNA_ENST00000601125.1_Intron|DTNA_ENST00000556414.3_Intron|DTNA_ENST00000269190.7_Missense_Mutation_p.P421H|DTNA_ENST00000269192.7_Missense_Mutation_p.P129H|DTNA_ENST00000269191.6_Missense_Mutation_p.P420H|DTNA_ENST00000283365.9_Intron|DTNA_ENST00000399113.3_Missense_Mutation_p.P420H|DTNA_ENST00000599844.1_Intron|DTNA_ENST00000595022.1_Intron|DTNA_ENST00000399097.3_Intron|DTNA_ENST00000598334.1_Intron|DTNA_ENST00000598142.1_Intron|DTNA_ENST00000598774.1_Intron|DTNA_ENST00000597599.1_Intron|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000348997.5_Missense_Mutation_p.P417H|DTNA_ENST00000399121.5_Intron|DTNA_ENST00000597674.1_Intron	p.P420H	NM_001390.4	NP_001381.2	Q9Y4J8	DTNA_HUMAN			12	1260	+			420			Syntrophin-binding region.		A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Missense_Mutation	SNP	ENST00000399113.3	37	c.1259C>A	CCDS59311.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.152752	0.57259	.	.	ENSG00000134769	ENST00000269190;ENST00000348997;ENST00000399121;ENST00000444659;ENST00000269191;ENST00000399113;ENST00000269192	D;D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59;-1.59	5.95	5.95	0.96441	.	0.112829	0.64402	D	0.000009	T	0.79799	0.4508	L	0.43152	1.355	0.80722	D	1	B;B;B;B	0.25955	0.005;0.138;0.001;0.001	B;B;B;B	0.25405	0.019;0.06;0.001;0.001	T	0.74618	-0.3605	10	0.41790	T	0.15	-14.108	18.5553	0.91081	0.0:1.0:0.0:0.0	.	129;420;420;417	B4DIR0;Q9Y4J8;Q9Y4J8-3;Q9Y4J8-4	.;DTNA_HUMAN;.;.	H	421;417;420;420;420;420;129	ENSP00000269190:P421H;ENSP00000336682:P417H;ENSP00000405819:P420H;ENSP00000269191:P420H;ENSP00000382064:P420H;ENSP00000269192:P129H	ENSP00000269190:P421H	P	+	2	0	DTNA	30672793	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.107000	0.57811	2.817000	0.96982	0.563000	0.77884	CCC		0.512	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2	NM_001390		4	32	1	0	0.150653	1	0.156233	4	32				
ATP2B2	491	broad.mit.edu	37	3	10413688	10413688	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A46I-01A-12D-A26M-08	TCGA-EJ-A46I-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8cf1bbc-43e5-41b0-a9c7-bd58e88a2e8e	c0472d02-3ce9-46a1-a7af-29b75e27cb95	g.chr3:10413688C>A	ENST00000352432.4	-	11	1533	c.1464G>T	c.(1462-1464)gaG>gaT	p.E488D	ATP2B2_ENST00000397077.1_Missense_Mutation_p.E443D|ATP2B2_ENST00000383800.4_Missense_Mutation_p.E443D|ATP2B2_ENST00000360273.2_Missense_Mutation_p.E488D|ATP2B2_ENST00000343816.4_Missense_Mutation_p.E474D			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	488					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TGCCCATGGTCTCACAGGCAT	0.572																																					Ovarian(125;1619 1709 15675 19819 38835)	ENST00000397077.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						c.(1327-1329)gaG>gaT		ATPase, Ca++ transporting, plasma membrane 2							176.0	151.0	159.0					3																	10413688		2203	4300	6503	SO:0001583	missense	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10413688C>A	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.1464G>T	3.37:g.10413688C>A	ENSP00000324172:p.Glu488Asp					ATP2B2_ENST00000383800.4_Missense_Mutation_p.E443D|ATP2B2_ENST00000360273.2_Missense_Mutation_p.E488D|ATP2B2_ENST00000352432.4_Missense_Mutation_p.E488D|ATP2B2_ENST00000343816.4_Missense_Mutation_p.E474D	p.E443D			Q01814	AT2B2_HUMAN			11	1904	-			488					O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	37	c.1329G>T	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.700243	0.48307	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000452124;ENST00000342354	D;D;D;D;D;D	0.94723	-3.5;-3.5;-3.5;-3.5;-3.5;-3.5	4.71	2.93	0.34026	ATPase, P-type, cytoplasmic domain N (1);ATPase, P-type, ATPase-associated domain (1);	0.105377	0.64402	D	0.000005	D	0.97751	0.9262	H	0.97516	4.02	0.80722	D	1	B;D;D	0.69078	0.053;0.997;0.991	B;D;P	0.68765	0.024;0.96;0.899	D	0.96651	0.9481	10	0.87932	D	0	-15.1601	8.297	0.31990	0.0:0.6835:0.0:0.3165	.	423;455;488	F5H7F7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	D	488;443;443;488;474;423;344;488	ENSP00000324172:E488D;ENSP00000373311:E443D;ENSP00000380267:E443D;ENSP00000353414:E488D;ENSP00000344677:E474D;ENSP00000414854:E344D	ENSP00000342954:E488D	E	-	3	2	ATP2B2	10388688	0.998000	0.40836	0.998000	0.56505	0.996000	0.88848	0.560000	0.23500	0.602000	0.29896	0.655000	0.94253	GAG		0.572	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		6	67	1	0	2.0095e-06	1	2.55754e-06	6	67				
KCNA3	3738	broad.mit.edu	37	1	111217214	111217214	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-A46I-01A-12D-A26M-08	TCGA-EJ-A46I-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8cf1bbc-43e5-41b0-a9c7-bd58e88a2e8e	c0472d02-3ce9-46a1-a7af-29b75e27cb95	g.chr1:111217214delG	ENST00000369769.2	-	1	441	c.218delC	c.(217-219)ccgfs	p.P74fs		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	74					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	GCCTTGAGGCGGGGCCCCTCC	0.781																																						ENST00000369769.2																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38						c.(217-219)cgfs		potassium voltage-gated channel, shaker-related subfamily, member 3							4.0	5.0	4.0					1																	111217214		1378	3095	4473	SO:0001589	frameshift_variant	3738					voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111217214delG	L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.218delC	1.37:g.111217214delG	ENSP00000358784:p.Pro74fs						p.P74fs	NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	441	-		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	74					Q5VWN2	Frame_Shift_Del	DEL	ENST00000369769.2	37	c.218delC	CCDS828.2																																																																																				0.781	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232		3	6						3	6	---	---	---	---
NBPF15	284565	broad.mit.edu	37	1	148594507	148594507	+	Frame_Shift_Del	DEL	A	A	-	rs587683207	byFrequency	TCGA-EJ-A46I-01A-12D-A26M-08	TCGA-EJ-A46I-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8cf1bbc-43e5-41b0-a9c7-bd58e88a2e8e	c0472d02-3ce9-46a1-a7af-29b75e27cb95	g.chr1:148594507delA	ENST00000369187.3	+	19	2369	c.1880delA	c.(1879-1881)cacfs	p.H627fs	NBPF15_ENST00000442702.2_Frame_Shift_Del_p.H627fs	NM_173638.3	NP_775909.2	Q8N660	NBPFF_HUMAN	neuroblastoma breakpoint family, member 15	627	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12	all_hematologic(923;0.032)					TCATTCCAGCACTACAGAAGT	0.443													|||unknown(NO_COVERAGE)	3	0.000599042	0.0	0.0	5008	,	,		20293	0.0		0.003	False		,,,				2504	0.0					ENST00000442702.2																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12						c.(1879-1881)ccfs		neuroblastoma breakpoint family, member 15			,	1,4113		0,1,2056	219.0	288.0	265.0		,	-1.0	0.0	1		268	9,8225		1,7,4109	no	frameshift,frameshift	NBPF15	NM_173638.3,NM_001170755.1	,	1,8,6165	A1A1,A1R,RR		0.1093,0.0243,0.081	,	,	148594507	10,12338	2159	4294	6453	SO:0001589	frameshift_variant	284565					cytoplasm		g.chr1:148594507delA	BC023087	CCDS72852.1	1q21.1	2014-01-16			ENSG00000243452	ENSG00000266338		"""neuroblastoma breakpoint family"""	28791	protein-coding gene	gene with protein product		610414, 614005	"""neuroblastoma breakpoint family, member 16"""	NBPF16		16079250	Standard	NM_173638		Approved	MGC8902	uc001esc.2	Q8N660	OTTHUMG00000013634	ENST00000369187.3:c.1880delA	1.37:g.148594507delA	ENSP00000358188:p.His627fs					NBPF15_ENST00000369187.3_Frame_Shift_Del_p.H627fs	p.H627fs	NM_001170755.1	NP_001164226.1	Q8N660	NBPFF_HUMAN			21	2947	+	all_hematologic(923;0.032)		627			NBPF 6.		Q3BBV9|Q8IX77	Frame_Shift_Del	DEL	ENST00000369187.3	37	c.1880delA	CCDS932.1																																																																																				0.443	NBPF15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038609.3	NM_173638		7	318						7	318	---	---	---	---
RP13-228J13.1	0	broad.mit.edu	37	X	154578865	154578865	+	RNA	DEL	G	G	-	rs150846040|rs563910	byFrequency	TCGA-EJ-A46I-01A-12D-A26M-08	TCGA-EJ-A46I-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8cf1bbc-43e5-41b0-a9c7-bd58e88a2e8e	c0472d02-3ce9-46a1-a7af-29b75e27cb95	g.chrX:154578865delG	ENST00000412436.1	-	0	98				RP13-228J13.5_ENST00000453508.1_RNA|RP13-228J13.1_ENST00000444722.1_RNA																							TTTTCTCTCTGTTTTTTTTTT	0.418																																						ENST00000412436.1																			0																																																			0							g.chrX:154578865delG																													X.37:g.154578865delG						RP13-228J13.5_ENST00000453508.1_RNA|RP13-228J13.1_ENST00000444722.1_RNA								0	98	-									RNA	DEL	ENST00000412436.1	37																																																																																						0.418	RP13-228J13.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000058799.1			2	4						2	4	---	---	---	---
