#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
CDKAL1	54901	broad.mit.edu	37	6	20955792	20955792	+	Silent	SNP	G	G	A	rs140861870	byFrequency	TCGA-J8-A3YH-06A-11D-A23M-08	TCGA-J8-A3YH-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46379ee5-7ed3-473f-8285-0bc3a61451bf	6ef8a7e6-54c5-451a-a3bb-f8d333cad5c6	g.chr6:20955792G>A	ENST00000378610.1	+	8	895	c.885G>A	c.(883-885)ccG>ccA	p.P295P	CDKAL1_ENST00000378624.4_Silent_p.P225P|CDKAL1_ENST00000274695.4_Silent_p.P295P			Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	295					maintenance of translational fidelity (GO:1990145)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|N6-threonylcarbomyladenosine methylthiotransferase activity (GO:0035598)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			TGACAAATCCGCCCTATATTT	0.478																																						ENST00000274695.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29						c.(883-885)ccG>ccA		CDK5 regulatory subunit associated protein 1-like 1		G		0,4406		0,0,2203	114.0	110.0	112.0		885	-10.8	0.1	6	dbSNP_134	112	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CDKAL1	NM_017774.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		295/580	20955792	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54901				RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity	g.chr6:20955792G>A	AK000349	CCDS4546.1	6p22.2	2008-02-05			ENSG00000145996	ENSG00000145996			21050	protein-coding gene	gene with protein product		611259					Standard	NM_017774		Approved	FLJ20342	uc003ndd.2	Q5VV42	OTTHUMG00000014340	ENST00000378610.1:c.885G>A	6.37:g.20955792G>A						CDKAL1_ENST00000378624.4_Silent_p.P225P|CDKAL1_ENST00000378610.1_Silent_p.P295P	p.P295P	NM_017774.3	NP_060244.2	Q5VV42	CDKAL_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)		10	1052	+	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		295					A8K6S0|Q6P385|Q6ZR27|Q9NXB3	Silent	SNP	ENST00000378610.1	37	c.885G>A	CCDS4546.1																																																																																				0.478	CDKAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039986.1	NM_017774		7	127	0	0	0	1	0	7	127				
MGA	23269	broad.mit.edu	37	15	42059342	42059342	+	Missense_Mutation	SNP	T	T	G	rs71472501	byFrequency	TCGA-J8-A3YH-06A-11D-A23M-08	TCGA-J8-A3YH-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46379ee5-7ed3-473f-8285-0bc3a61451bf	6ef8a7e6-54c5-451a-a3bb-f8d333cad5c6	g.chr15:42059342T>G	ENST00000570161.1	+	23	9062	c.9062T>G	c.(9061-9063)gTt>gGt	p.V3021G	MGA_ENST00000219905.7_Missense_Mutation_p.V3021G|MGA_ENST00000545763.1_Missense_Mutation_p.V2812G|MGA_ENST00000566586.1_Missense_Mutation_p.V2812G|MGA_ENST00000389936.4_Missense_Mutation_p.V2982G			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GCTGCCAAAGTTGGGTCAGTT	0.483																																						ENST00000219905.7																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(9061-9063)gTt>gGt		MGA, MAX dimerization protein							119.0	116.0	117.0					15																	42059342		1944	4157	6101	SO:0001583	missense	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42059342T>G	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.9062T>G	15.37:g.42059342T>G	ENSP00000457035:p.Val3021Gly					MGA_ENST00000570161.1_Missense_Mutation_p.V3021G|MGA_ENST00000389936.4_Missense_Mutation_p.V2982G|MGA_ENST00000566586.1_Missense_Mutation_p.V2812G|MGA_ENST00000545763.1_Missense_Mutation_p.V2812G	p.V3021G	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	24	9243	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	2982					Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	c.9062T>G	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	T	11.38	1.623176	0.28889	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.84660	-1.88;-1.83;-1.86	5.55	3.19	0.36642	.	0.448959	0.18661	N	0.134739	T	0.70684	0.3252	N	0.12182	0.205	0.39039	D	0.960095	B;B	0.09022	0.001;0.002	B;B	0.08055	0.003;0.001	T	0.65821	-0.6075	10	0.41790	T	0.15	.	9.0033	0.36094	0.0:0.073:0.1342:0.7928	.	2812;3021	F5H7K2;E7ENI0	.;.	G	3021;2982;2812	ENSP00000219905:V3021G;ENSP00000374586:V2982G;ENSP00000442467:V2812G	ENSP00000219905:V3021G	V	+	2	0	MGA	39846634	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.297000	0.43593	1.109000	0.41680	0.533000	0.62120	GTT		0.483	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		8	121	0	0	0	1	0	8	121				
TMEM216	51259	broad.mit.edu	37	11	61161357	61161357	+	Splice_Site	SNP	T	T	G	rs559230605	byFrequency	TCGA-J8-A3YH-06A-11D-A23M-08	TCGA-J8-A3YH-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46379ee5-7ed3-473f-8285-0bc3a61451bf	6ef8a7e6-54c5-451a-a3bb-f8d333cad5c6	g.chr11:61161357T>G	ENST00000515837.2	+	3	1083	c.138T>G	c.(136-138)ggT>ggG	p.G46G	TMEM216_ENST00000398979.3_5'UTR|TMEM216_ENST00000334888.5_Splice_Site_p.G46G			Q9P0N5	TM216_HUMAN	transmembrane protein 216	46					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)		p.G46G(3)		endometrium(1)|large_intestine(2)|lung(1)|prostate(2)	6						TATTGGCAGGTGTCCTGCTAC	0.438													T|||	429	0.0856629	0.1248	0.0965	5008	,	,		21622	0.0665		0.0666	False		,,,				2504	0.0644					ENST00000515837.2																			3	Substitution - coding silent(3)	p.G46G(3)	prostate(2)|endometrium(1)	endometrium(1)|large_intestine(2)|lung(1)|prostate(2)	6						c.e3-1		transmembrane protein 216							84.0	93.0	90.0					11																	61161357		1966	4155	6121	SO:0001630	splice_region_variant	51259					integral to membrane		g.chr11:61161357T>G		CCDS53640.1	11q13.1	2014-09-17			ENSG00000187049	ENSG00000187049			25018	protein-coding gene	gene with protein product		613277	"""cerebello-oculo-renal syndrome 2"", ""Meckel syndrome, type 2"""	CORS2, MKS2		11042152, 20036350, 20512146	Standard	NM_016499		Approved	MGC13379, HSPC244, JBTS2	uc021qkf.1	Q9P0N5		ENST00000515837.2:c.137-1T>G	11.37:g.61161357T>G						TMEM216_ENST00000334888.5_Splice_Site_p.G46_splice|TMEM216_ENST00000398979.3_5'UTR	p.G46_splice			Q9P0N5	TM216_HUMAN			3	1083	+			39					A8MZ23|B7Z8N1	Splice_Site	SNP	ENST00000515837.2	37	c.136_splice	CCDS53640.1																																																																																				0.438	TMEM216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398430.1	NM_016499	Silent	13	28	0	0	0	1	0	13	28				
TVP23C	201158	broad.mit.edu	37	17	15441469	15441469	+	Intron	SNP	C	C	T	rs568909748	byFrequency	TCGA-J8-A3YH-06A-11D-A23M-08	TCGA-J8-A3YH-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46379ee5-7ed3-473f-8285-0bc3a61451bf	6ef8a7e6-54c5-451a-a3bb-f8d333cad5c6	g.chr17:15441469C>T	ENST00000225576.3	-	5	558				TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000583206.1_5'Flank|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000584811.1_Splice_Site	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)							integral component of membrane (GO:0016021)											TCCAGTGTTCCGCAAAAGACA	0.393													c|||	3	0.000599042	0.0015	0.0	5008	,	,		17476	0.001		0.0	False		,,,				2504	0.0					ENST00000584811.1																			0											c.e7-2		trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)																																				SO:0001627	intron_variant	201158							g.chr17:15441469C>T	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B2"""	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.462+7629G>A	17.37:g.15441469C>T						TVP23C_ENST00000225576.3_Intron|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000519970.1_Intron								7	1815	-								Q3LIC7	Splice_Site	SNP	ENST00000225576.3	37		CCDS11170.1	.	.	.	.	.	.	.	.	.	.	c	13.58	2.280351	0.40294	.	.	ENSG00000175106	ENST00000438826	.	.	.	4.5	4.5	0.54988	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.0583	0.25111	0.0:0.1033:0.0:0.8967	.	.	.	.	.	-1	.	.	.	-	.	.	FAM18B2	15382194	1.000000	0.71417	0.996000	0.52242	0.698000	0.40448	1.919000	0.40015	0.852000	0.35287	-0.352000	0.07741	.		0.393	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130705.2	NM_145301		6	103	0	0	0	1	0	6	103				
ZNF706	51123	broad.mit.edu	37	8	102213947	102213947	+	Missense_Mutation	SNP	A	A	T			TCGA-J8-A3YH-06A-11D-A23M-08	TCGA-J8-A3YH-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46379ee5-7ed3-473f-8285-0bc3a61451bf	6ef8a7e6-54c5-451a-a3bb-f8d333cad5c6	g.chr8:102213947A>T	ENST00000520347.1	-	2	2979	c.23T>A	c.(22-24)aTt>aAt	p.I8N	ZNF706_ENST00000517844.1_Missense_Mutation_p.I8N|ZNF706_ENST00000520984.1_Missense_Mutation_p.I8N|ZNF706_ENST00000311212.4_Missense_Mutation_p.I8N|ZNF706_ENST00000518336.1_Missense_Mutation_p.I8N|ZNF706_ENST00000521272.1_Missense_Mutation_p.I8N|ZNF706_ENST00000519744.1_Missense_Mutation_p.I8N|ZNF706_ENST00000519882.1_Missense_Mutation_p.I8N			Q9Y5V0	ZN706_HUMAN	zinc finger protein 706	8							metal ion binding (GO:0046872)			large_intestine(1)|ovary(2)	3	all_cancers(14;3.3e-07)|all_epithelial(15;3.47e-09)|Lung NSC(17;3.44e-05)|all_lung(17;0.000117)		Epithelial(11;8.57e-11)|all cancers(13;1.43e-08)|OV - Ovarian serous cystadenocarcinoma(57;1.43e-05)			CTGAGACTGAATTTTCTGCTG	0.393																																						ENST00000520347.1																			0				large_intestine(1)|ovary(2)	3						c.(22-24)aTt>aAt		zinc finger protein 706							91.0	82.0	85.0					8																	102213947		2203	4300	6503	SO:0001583	missense	51123					intracellular	zinc ion binding	g.chr8:102213947A>T	AF125099	CCDS6291.1	8q22.3	2005-09-22				ENSG00000120963			24992	protein-coding gene	gene with protein product						11042152	Standard	NM_001042510		Approved	HSPC038	uc031tbv.1	Q9Y5V0		ENST00000520347.1:c.23T>A	8.37:g.102213947A>T	ENSP00000430823:p.Ile8Asn					ZNF706_ENST00000519882.1_Missense_Mutation_p.I8N|ZNF706_ENST00000518336.1_Missense_Mutation_p.I8N|ZNF706_ENST00000311212.4_Missense_Mutation_p.I8N|ZNF706_ENST00000521272.1_Missense_Mutation_p.I8N|ZNF706_ENST00000520984.1_Missense_Mutation_p.I8N|ZNF706_ENST00000519744.1_Missense_Mutation_p.I8N|ZNF706_ENST00000517844.1_Missense_Mutation_p.I8N	p.I8N			Q9Y5V0	ZN706_HUMAN	Epithelial(11;8.57e-11)|all cancers(13;1.43e-08)|OV - Ovarian serous cystadenocarcinoma(57;1.43e-05)		2	2979	-	all_cancers(14;3.3e-07)|all_epithelial(15;3.47e-09)|Lung NSC(17;3.44e-05)|all_lung(17;0.000117)		8					A8K362	Missense_Mutation	SNP	ENST00000520347.1	37	c.23T>A	CCDS6291.1	.	.	.	.	.	.	.	.	.	.	A	19.80	3.895185	0.72639	.	.	ENSG00000120963	ENST00000520984;ENST00000311212;ENST00000519744;ENST00000517844;ENST00000520347;ENST00000519882;ENST00000521272;ENST00000518336;ENST00000523922;ENST00000520454	.	.	.	5.39	5.39	0.77823	.	0.098661	0.64402	D	0.000002	T	0.46927	0.1418	.	.	.	0.80722	D	1	P	0.45569	0.861	B	0.36567	0.228	T	0.55798	-0.8084	8	0.87932	D	0	-7.7891	15.4421	0.75190	1.0:0.0:0.0:0.0	.	8	Q9Y5V0	ZN706_HUMAN	N	8	.	ENSP00000311768:I8N	I	-	2	0	ZNF706	102283123	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.339000	0.96797	2.054000	0.61138	0.533000	0.62120	ATT		0.393	ZNF706-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380477.1	NM_016096		7	42	0	0	0	1	0	7	42				
ATF4P4	100127952	broad.mit.edu	37	11	113659993	113659993	+	RNA	SNP	A	A	C	rs906846	byFrequency	TCGA-J8-A3YH-06A-11D-A23M-08	TCGA-J8-A3YH-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46379ee5-7ed3-473f-8285-0bc3a61451bf	6ef8a7e6-54c5-451a-a3bb-f8d333cad5c6	g.chr11:113659993A>C	ENST00000393544.2	+	0	41									activating transcription factor 4 pseudogene 4																		GGCAGCATGTAGGTTGCAGGG	0.657													C|||	2453	0.489816	0.5514	0.4669	5008	,	,		13443	0.5804		0.4185	False		,,,				2504	0.4029					ENST00000393544.2																			0																																																			0							g.chr11:113659993A>C			11q23.2	2011-09-02	2010-12-16	2010-12-16	ENSG00000256167	ENSG00000256167			787	pseudogene	pseudogene			"""activating transcription factor 4B"""	ATF4B		10610718	Standard	NG_021835		Approved				OTTHUMG00000168194		11.37:g.113659993A>C														0	41	+									RNA	SNP	ENST00000393544.2	37																																																																																						0.657	ATF4P4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000398707.1	NG_021835		3	44	0	0	0	1	0	3	44				
TMPRSS11F	389208	broad.mit.edu	37	4	68925071	68925071	+	Silent	SNP	G	G	A			TCGA-J8-A3YH-06A-11D-A23M-08	TCGA-J8-A3YH-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46379ee5-7ed3-473f-8285-0bc3a61451bf	6ef8a7e6-54c5-451a-a3bb-f8d333cad5c6	g.chr4:68925071G>A	ENST00000356291.2	-	9	1190	c.1131C>T	c.(1129-1131)ttC>ttT	p.F377F	RP11-35D5.1_ENST00000600441.1_RNA|UBA6-AS1_ENST00000500538.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	377	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						TTCCTTCCATGAATCCAGCAC	0.388																																						ENST00000356291.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						c.(1129-1131)ttC>ttT		transmembrane protease, serine 11F							198.0	173.0	181.0					4																	68925071		2203	4300	6503	SO:0001819	synonymous_variant	389208				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68925071G>A	AK122625	CCDS3520.1	4q13.2	2010-04-13			ENSG00000198092	ENSG00000198092		"""Serine peptidases / Transmembrane"""	29994	protein-coding gene	gene with protein product							Standard	NM_207407		Approved	FLJ16046	uc003hdt.1	Q6ZWK6	OTTHUMG00000129307	ENST00000356291.2:c.1131C>T	4.37:g.68925071G>A						RP11-453E17.1_ENST00000500538.2_RNA	p.F377F	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN			9	1190	-			377			Peptidase S1.		A8MXX2	Silent	SNP	ENST00000356291.2	37	c.1131C>T	CCDS3520.1																																																																																				0.388	TMPRSS11F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251439.1	NM_207407		6	50	0	0	0	1	0	6	50				
LRRC37A4P	55073	broad.mit.edu	37	17	43585746	43585746	+	RNA	SNP	C	C	T	rs190554436	byFrequency	TCGA-J8-A3YH-06A-11D-A23M-08	TCGA-J8-A3YH-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46379ee5-7ed3-473f-8285-0bc3a61451bf	6ef8a7e6-54c5-451a-a3bb-f8d333cad5c6	g.chr17:43585746C>T	ENST00000579913.1	-	0	1603				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		TAAGCCAGAGCGGCCGTCTGA	0.438													c|||	27	0.00539137	0.0008	0.0072	5008	,	,		19118	0.0		0.003	False		,,,				2504	0.0184					ENST00000253803.2																			0																																																			0							g.chr17:43585746C>T	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43585746C>T						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.438	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		4	39	0	0	0	1	0	4	39				
PLXNA1	5361	broad.mit.edu	37	3	126707544	126707544	+	Silent	SNP	T	T	G			TCGA-J8-A3YH-06A-11D-A23M-08	TCGA-J8-A3YH-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46379ee5-7ed3-473f-8285-0bc3a61451bf	6ef8a7e6-54c5-451a-a3bb-f8d333cad5c6	g.chr3:126707544T>G	ENST00000393409.2	+	1	108	c.108T>G	c.(106-108)ggT>ggG	p.G36G	PLXNA1_ENST00000251772.4_Silent_p.G13G	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	36	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)	p.G13G(4)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CAGGCGGGGGTTCACAGCCCC	0.682																																						ENST00000393409.2																			4	Substitution - coding silent(4)	p.G13G(4)	lung(2)|kidney(2)	breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(106-108)ggT>ggG		plexin A1							26.0	27.0	27.0					3																	126707544		2203	4300	6503	SO:0001819	synonymous_variant	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126707544T>G	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.108T>G	3.37:g.126707544T>G						PLXNA1_ENST00000251772.4_Silent_p.G13G	p.G36G	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	1	108	+			36			Sema.			Silent	SNP	ENST00000393409.2	37	c.108T>G	CCDS33847.2																																																																																				0.682	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		6	26	0	0	0	1	0	6	26				
TRAJ45	28710	broad.mit.edu	37	14	22962402	22962402	+	RNA	SNP	C	C	T	rs185825250	byFrequency	TCGA-J8-A3YH-06A-11D-A23M-08	TCGA-J8-A3YH-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46379ee5-7ed3-473f-8285-0bc3a61451bf	6ef8a7e6-54c5-451a-a3bb-f8d333cad5c6	g.chr14:22962402C>T	ENST00000390492.1	+	0	0				TRAJ43_ENST00000390494.1_RNA|TRAJ48_ENST00000390489.1_RNA|TRAJ47_ENST00000390490.1_RNA|TRAJ46_ENST00000390491.1_RNA|TRAJ44_ENST00000390493.1_RNA					T cell receptor alpha joining 45																		AGAAAAGCAGCGGAGACAAGC	0.473													c|||	3	0.000599042	0.0023	0.0	5008	,	,		20841	0.0		0.0	False		,,,				2504	0.0					ENST00000390491.1																			0																				62.0	66.0	65.0					14																	22962402		1898	4146	6044			0							g.chr14:22962402C>T	M94081		14q11.2	2012-02-07			ENSG00000211844	ENSG00000211844		"""T cell receptors / TRA locus"""	12076	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000170922		14.37:g.22962402C>T														0	14	+									RNA	SNP	ENST00000390492.1	37																																																																																						0.473	TRAJ45-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal	TR_J_gene	TR_J_gene	OTTHUMT00000410953.1	NG_001332		3	32	0	0	0	1	0	3	32				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-J8-A3YH-06A-11D-A23M-08	TCGA-J8-A3YH-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46379ee5-7ed3-473f-8285-0bc3a61451bf	6ef8a7e6-54c5-451a-a3bb-f8d333cad5c6	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		28	45	0	0	0	1	0	28	45				
MYPOP	339344	broad.mit.edu	37	19	46393971	46393971	+	Silent	SNP	T	T	G			TCGA-J8-A3YH-06A-11D-A23M-08	TCGA-J8-A3YH-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46379ee5-7ed3-473f-8285-0bc3a61451bf	6ef8a7e6-54c5-451a-a3bb-f8d333cad5c6	g.chr19:46393971T>G	ENST00000322217.5	-	3	1196	c.1110A>C	c.(1108-1110)ccA>ccC	p.P370P		NM_001012643.2	NP_001012661.1	Q86VE0	MYPOP_HUMAN	Myb-related transcription factor, partner of profilin	370	Pro-rich.					nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.A371fs*>30(1)		large_intestine(2)|lung(1)|skin(1)	4						GGAGCGGGGCTGGGGGGGGCC	0.657																																						ENST00000322217.5																			1	Insertion - Frameshift(1)	p.A371fs*>30(1)	large_intestine(1)	large_intestine(2)|lung(1)|skin(1)	4						c.(1108-1110)ccA>ccC		Myb-related transcription factor, partner of profilin							6.0	8.0	8.0					19																	46393971		2078	4151	6229	SO:0001819	synonymous_variant	339344					nucleus	DNA binding	g.chr19:46393971T>G	BC044311	CCDS33055.1	19q13.32	2014-06-13			ENSG00000176182	ENSG00000176182			20178	protein-coding gene	gene with protein product	"""p42 Myb-related transcription factor, partner of profilin"""					15615774	Standard	NM_001012643		Approved	P42pop	uc002pdt.3	Q86VE0	OTTHUMG00000182486	ENST00000322217.5:c.1110A>C	19.37:g.46393971T>G							p.P370P	NM_001012643.2	NP_001012661.1	Q86VE0	MYPOP_HUMAN			3	1196	-			370			Pro-rich.			Silent	SNP	ENST00000322217.5	37	c.1110A>C	CCDS33055.1																																																																																				0.657	MYPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461684.1	NM_001012643		4	17	0	0	0	1	0	4	17				
DOCK8	81704	broad.mit.edu	37	9	414953	414953	+	Splice_Site	SNP	T	T	A			TCGA-J8-A3YH-06A-11D-A23M-08	TCGA-J8-A3YH-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46379ee5-7ed3-473f-8285-0bc3a61451bf	6ef8a7e6-54c5-451a-a3bb-f8d333cad5c6	g.chr9:414953T>A	ENST00000453981.1	+	29	3812		c.e29+2		DOCK8_ENST00000469391.1_Splice_Site|DOCK8_ENST00000432829.2_Splice_Site|DOCK8_ENST00000382329.1_Splice_Site			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8						blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		ACTTTACAGGTAATGGCCCTT	0.478																																						ENST00000432829.2																			0				breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65						c.e29+2		dedicator of cytokinesis 8							153.0	138.0	143.0					9																	414953		2203	4300	6503	SO:0001630	splice_region_variant	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:414953T>A	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.3700+2T>A	9.37:g.414953T>A						DOCK8_ENST00000453981.1_Splice_Site|DOCK8_ENST00000469391.1_Splice_Site|DOCK8_ENST00000382329.1_Splice_Site		NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	29	3812	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)						A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Splice_Site	SNP	ENST00000453981.1	37		CCDS6440.2	.	.	.	.	.	.	.	.	.	.	T	21.0	4.083404	0.76642	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382329	.	.	.	6.02	6.02	0.97574	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5586	0.50764	0.0:0.0688:0.0:0.9312	.	.	.	.	.	-1	.	.	.	+	.	.	DOCK8	404953	1.000000	0.71417	0.999000	0.59377	0.821000	0.46438	6.118000	0.71583	2.311000	0.77944	0.533000	0.62120	.		0.478	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307	Intron	36	91	0	0	0	1	0	36	91				
RP11-93K22.13	0	broad.mit.edu	37	3	129814807	129814807	+	lincRNA	DEL	G	G	-	rs71158106	byFrequency	TCGA-J8-A3YH-06A-11D-A23M-08	TCGA-J8-A3YH-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46379ee5-7ed3-473f-8285-0bc3a61451bf	6ef8a7e6-54c5-451a-a3bb-f8d333cad5c6	g.chr3:129814807delG	ENST00000514010.1	-	0	0				ALG1L2_ENST00000507643.1_RNA|AC083906.2_ENST00000578837.1_RNA																							CACTCCCCTCGGGGGGTGTTG	0.607														857	0.171126	0.2088	0.1628	5008	,	,		17216	0.003		0.2932	False		,,,				2504	0.1738					ENST00000507643.1																			0																																																			0				biosynthetic process		transferase activity, transferring glycosyl groups	g.chr3:129814807delG																													3.37:g.129814807delG										C9J202	AG1L2_HUMAN			0	456	+									RNA	DEL	ENST00000514010.1	37																																																																																						0.607	RP11-93K22.13-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000358040.1			4	2						4	2	---	---	---	---
KMT2A	4297	broad.mit.edu	37	11	118352795	118352795	+	Frame_Shift_Del	DEL	C	C	-			TCGA-J8-A3YH-06A-11D-A23M-08	TCGA-J8-A3YH-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46379ee5-7ed3-473f-8285-0bc3a61451bf	6ef8a7e6-54c5-451a-a3bb-f8d333cad5c6	g.chr11:118352795delC	ENST00000389506.5	+	7	4000	c.4000delC	c.(4000-4002)ccafs	p.P1335fs	KMT2A_ENST00000354520.4_Frame_Shift_Del_p.P1335fs|KMT2A_ENST00000420751.2_3'UTR|KMT2A_ENST00000534358.1_Frame_Shift_Del_p.P1335fs			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1335		Breakpoint for translocation to form KMT2A-ZFYVE19 oncogene.			anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										GCAGCCTCCACCACCAGAATC	0.493																																						ENST00000534358.1																			0											c.(4000-4002)cafs		lysine (K)-specific methyltransferase 2A							26.0	27.0	27.0					11																	118352795		2200	4296	6496	SO:0001589	frameshift_variant	4297							g.chr11:118352795delC	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.4000delC	11.37:g.118352795delC	ENSP00000374157:p.Pro1335fs					KMT2A_ENST00000420751.2_3'UTR|KMT2A_ENST00000389506.5_Frame_Shift_Del_p.P1335fs|KMT2A_ENST00000354520.4_Frame_Shift_Del_p.P1335fs	p.P1335fs	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					7	4023	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Frame_Shift_Del	DEL	ENST00000389506.5	37	c.4000delC	CCDS31686.1																																																																																				0.493	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		17	54						17	54	---	---	---	---
CLIP1	6249	broad.mit.edu	37	12	122812690	122812691	+	Frame_Shift_Ins	INS	-	-	T			TCGA-J8-A3YH-06A-11D-A23M-08	TCGA-J8-A3YH-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46379ee5-7ed3-473f-8285-0bc3a61451bf	6ef8a7e6-54c5-451a-a3bb-f8d333cad5c6	g.chr12:122812690_122812691insT	ENST00000540338.1	-	16	3093_3094	c.3052_3053insA	c.(3052-3054)agcfs	p.S1018fs	CLIP1_ENST00000358808.2_Frame_Shift_Ins_p.S1007fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.S896fs|CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.S593fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.S972fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.S1007fs			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1018					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CTGGTTGTGGCTTGTTTCCATT	0.505																																						ENST00000358808.2																			0				NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(3019-3021)ccafs		CAP-GLY domain containing linker protein 1																																				SO:0001589	frameshift_variant	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122812690_122812691insT		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.3053dupA	12.37:g.122812692_122812692dupT	ENSP00000439093:p.Ser1018fs					CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.P972fs|CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.P593fs|CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.P1018fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.P896fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.P1007fs	p.P1007fs	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	16	3173_3174	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1018					A0AVD3|Q17RS4|Q29RG0	Frame_Shift_Ins	INS	ENST00000540338.1	37	c.3019_3020insA	CCDS58285.1																																																																																				0.505	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		10	258						10	258	---	---	---	---
LOC102723968	102723968	broad.mit.edu	37	13	64407210	64407211	+	lincRNA	INS	-	-	TACTGTCAG			TCGA-J8-A3YH-06A-11D-A23M-08	TCGA-J8-A3YH-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46379ee5-7ed3-473f-8285-0bc3a61451bf	6ef8a7e6-54c5-451a-a3bb-f8d333cad5c6	g.chr13:64407210_64407211insTACTGTCAG	ENST00000607822.1	-	0	2159																											AGACCTTTATATAATTGCCAAA	0.366																																						ENST00000607822.1																			0																																																			0							g.chr13:64407210_64407211insTACTGTCAG																													13.37:g.64407210_64407211insTACTGTCAG														0	2159	-									RNA	INS	ENST00000607822.1	37																																																																																						0.366	RP11-394A14.2-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000471084.1			10	197						10	197	---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72831847	72831866	+	Frame_Shift_Del	DEL	TTGAAGGGCTCTCTTTAACT	TTGAAGGGCTCTCTTTAACT	-	rs374104332		TCGA-J8-A3YH-06A-11D-A23M-08	TCGA-J8-A3YH-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46379ee5-7ed3-473f-8285-0bc3a61451bf	6ef8a7e6-54c5-451a-a3bb-f8d333cad5c6	g.chr16:72831847_72831866delTTGAAGGGCTCTCTTTAACT	ENST00000268489.5	-	9	5387_5406	c.4715_4734delAGTTAAAGAGAGCCCTTCAA	c.(4714-4734)aagttaaagagagcccttcaafs	p.KLKRALQ1572fs	ZFHX3_ENST00000397992.5_Frame_Shift_Del_p.KLKRALQ658fs	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1572					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TTGCTGATTCTTGAAGGGCTCTCTTTAACTTATGCAGGTG	0.473																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(4714-4734)afs		zinc finger homeobox 3																																				SO:0001589	frameshift_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72831847_72831866delTTGAAGGGCTCTCTTTAACT	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.4715_4734delAGTTAAAGAGAGCCCTTCAA	16.37:g.72831847_72831866delTTGAAGGGCTCTCTTTAACT	ENSP00000268489:p.Lys1572fs					ZFHX3_ENST00000397992.5_Frame_Shift_Del_p.KLKRALQ658fs	p.KLKRALQ1572fs	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			9	5387_5406	-		Ovarian(137;0.13)	1572					D3DWS8|O15101|Q13719	Frame_Shift_Del	DEL	ENST00000268489.5	37	c.4715_4734delAGTTAAAGAGAGCCCTTCAA	CCDS10908.1																																																																																				0.473	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		11	93						11	93	---	---	---	---
RP11-252A24.2	0	broad.mit.edu	37	16	74372914	74372914	+	RNA	DEL	G	G	-	rs397827801|rs11353924|rs532713769|rs398078750		TCGA-J8-A3YH-06A-11D-A23M-08	TCGA-J8-A3YH-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46379ee5-7ed3-473f-8285-0bc3a61451bf	6ef8a7e6-54c5-451a-a3bb-f8d333cad5c6	g.chr16:74372914delG	ENST00000429810.2	-	0	1404																											AACGTAGtttgtttttttttt	0.433																																						ENST00000429810.2																			0																																																			0							g.chr16:74372914delG																													16.37:g.74372914delG														0	1404	-									RNA	DEL	ENST00000429810.2	37																																																																																						0.433	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			4	8						4	8	---	---	---	---
CECR7	100130418	broad.mit.edu	37	22	17528433	17528434	+	lincRNA	INS	-	-	TT	rs532305349	byFrequency	TCGA-J8-A3YH-06A-11D-A23M-08	TCGA-J8-A3YH-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46379ee5-7ed3-473f-8285-0bc3a61451bf	6ef8a7e6-54c5-451a-a3bb-f8d333cad5c6	g.chr22:17528433_17528434insTT	ENST00000441006.1	+	0	1006					NR_015352.1				cat eye syndrome chromosome region, candidate 7 (non-protein coding)																		ACAGTAGTGGCTTTTTTTTCTG	0.446														47	0.00938498	0.0023	0.0187	5008	,	,		19222	0.0		0.0288	False		,,,				2504	0.002					ENST00000441006.1																			0																																																			0							g.chr22:17528433_17528434insTT	BC043198		22q11.2	2012-10-16	2009-08-21		ENSG00000237438	ENSG00000237438		"""Long non-coding RNAs"""	1845	non-coding RNA	RNA, long non-coding			"""cat eye syndrome chromosome region, candidate 7"""			11381032	Standard	NR_015352		Approved	SAHL1	uc002zlx.1		OTTHUMG00000150027		22.37:g.17528440_17528441dupTT								NR_015352.1						0	1006	+									RNA	INS	ENST00000441006.1	37																																																																																						0.446	CECR7-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000315626.1	NR_015352		3	5						3	5	---	---	---	---
