#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
CANX	821	broad.mit.edu	37	5	179150714	179150714	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr5:179150714G>T	ENST00000247461.4	+	12	1652	c.1452G>T	c.(1450-1452)tgG>tgT	p.W484C	CANX_ENST00000504734.1_Missense_Mutation_p.W484C|CANX_ENST00000415618.2_Missense_Mutation_p.W519C|CANX_ENST00000452673.2_Missense_Mutation_p.W484C|CANX_ENST00000512607.2_Missense_Mutation_p.W376C	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	484					aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein folding (GO:0061077)|clathrin-mediated endocytosis (GO:0072583)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein secretion (GO:0009306)|synaptic vesicle endocytosis (GO:0048488)	axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ribosome (GO:0005840)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Antihemophilic Factor(DB00025)|Tenecteplase(DB00031)	CGTGGCTGTGGGTAGTCTATA	0.458																																						uc011dgp.2																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22						c.(1555-1557)tgG>tgT		Homo sapiens calnexin (CANX), transcript variant 1, mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)						145.0	144.0	144.0					5																	179150714		2203	4300	6503	SO:0001583	missense	821				post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding	g.chr5:179150714G>T	L18887	CCDS4447.1	5q35	2008-07-18			ENSG00000127022	ENSG00000127022			1473	protein-coding gene	gene with protein product	"""major histocompatibility complex class I antigen-binding protein p88"""	114217				1326756, 8136357	Standard	NM_001746		Approved	CNX, IP90, P90	uc003mkl.3	P27824	OTTHUMG00000130910	ENST00000247461.4:c.1452G>T	5.37:g.179150714G>T	ENSP00000247461:p.Trp484Cys		Somatic				CANX_uc003mkk.3_Missense_Mutation_p.W484C|CANX_uc003mkl.3_Missense_Mutation_p.W484C|CANX_uc011dgq.2_Missense_Mutation_p.W376C	p.W519C	NM_001746	NP_001737	WXS	Illumina GAIIx	Phase_I	P27824	CALX_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		11	1632	+	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	484					B2R5V8|B4DGP8|B4E2T8|D3DWQ3|D6R9K3	Missense_Mutation	SNP	ENST00000247461.4	37	c.1557G>T	CCDS4447.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.295543	0.60086	.	.	ENSG00000127022	ENST00000504734;ENST00000415618;ENST00000452673;ENST00000247461;ENST00000512607	T;T;T;T;T	0.59772	0.29;0.24;0.29;0.29;0.4	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.80798	0.4692	M	0.87971	2.92	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.987	T	0.82884	-0.0236	10	0.87932	D	0	-7.3823	19.8993	0.96980	0.0:0.0:1.0:0.0	.	519;484	B4DGP8;P27824	.;CALX_HUMAN	C	484;519;484;484;376	ENSP00000424063:W484C;ENSP00000394817:W519C;ENSP00000391646:W484C;ENSP00000247461:W484C;ENSP00000423588:W376C	ENSP00000247461:W484C	W	+	3	0	CANX	179083320	1.000000	0.71417	1.000000	0.80357	0.064000	0.16182	9.833000	0.99426	2.807000	0.96579	0.555000	0.69702	TGG		0.458	CANX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253500.2	NM_001024649		32	80	0	0	0	1	0	32	80				
OR7G3	390883	broad.mit.edu	37	19	9236922	9236922	+	Silent	SNP	A	A	G			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr19:9236922A>G	ENST00000305444.2	-	1	704	c.705T>C	c.(703-705)taT>taC	p.Y235Y		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	235						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						AAAAAGCTTTATACTTTCCAC	0.448																																						uc010xkl.2																			0				NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(703-705)taT>taC		Homo sapiens olfactory receptor, family 7, subfamily G, member 3 (OR7G3), mRNA.							99.0	103.0	102.0					19																	9236922		2203	4300	6503	SO:0001819	synonymous_variant	390883				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9236922A>G		CCDS32899.1	19p13.2	2013-09-24			ENSG00000170920	ENSG00000170920		"""GPCR / Class A : Olfactory receptors"""	8467	protein-coding gene	gene with protein product							Standard	NM_001001958		Approved	OST085	uc010xkl.2	Q8NG95	OTTHUMG00000165520	ENST00000305444.2:c.705T>C	19.37:g.9236922A>G			Somatic					p.Y235Y	NM_001001958	NP_001001958	WXS	Illumina GAIIx	Phase_I	Q8NG95	OR7G3_HUMAN			0	705	-			235					Q6IFJ6|Q96R99	Silent	SNP	ENST00000305444.2	37	c.705T>C	CCDS32899.1																																																																																				0.448	OR7G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384611.1			27	140	0	0	0	1	0	27	140				
EPPK1	83481	broad.mit.edu	37	8	144940615	144940615	+	Silent	SNP	G	G	A			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr8:144940615G>A	ENST00000525985.1	-	2	6878	c.6807C>T	c.(6805-6807)acC>acT	p.T2269T				P58107	EPIPL_HUMAN	epiplakin 1	2269						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGACGAAGCCGGTGGCCGCCT	0.716																																						uc003zaa.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(6805-6807)acC>acT		Homo sapiens epiplakin 1 (EPPK1), mRNA.							36.0	36.0	36.0					8																	144940615		2150	4233	6383	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940615G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6807C>T	8.37:g.144940615G>A			Somatic					p.T2269T	NM_031308	NP_112598	WXS	Illumina GAIIx	Phase_I	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		0	6820	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2269					Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.6807C>T																																																																																					0.716	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		4	39	0	0	0	1	0	4	39				
SLIT2	9353	broad.mit.edu	37	4	20555525	20555525	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr4:20555525G>C	ENST00000504154.1	+	26	2911	c.2659G>C	c.(2659-2661)Gct>Cct	p.A887P	SLIT2_ENST00000273739.5_Missense_Mutation_p.A891P|SLIT2_ENST00000503837.1_Missense_Mutation_p.A883P|SLIT2_ENST00000503823.1_Missense_Mutation_p.A879P	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	887	LRRCT 4.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TGCTCGTTGTGCTGGTCCTGG	0.408																																						uc003gpr.1																			0				NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.(2659-2661)Gct>Cct		Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.							139.0	131.0	134.0					4																	20555525		2203	4300	6503	SO:0001583	missense	9353				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding	g.chr4:20555525G>C	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.2659G>C	4.37:g.20555525G>C	ENSP00000422591:p.Ala887Pro		Somatic				SLIT2_uc003gps.1_Missense_Mutation_p.A879P	p.A887P	NM_004787	NP_004778	WXS	Illumina GAIIx	Phase_I	O94813	SLIT2_HUMAN			25	2863	+			887			LRRCT 4.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.2659G>C	CCDS3426.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.41|15.41	2.824174|2.824174	0.50739|0.50739	.|.	.|.	ENSG00000145147|ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837;ENST00000511508|ENST00000509941	D;D;D;D;D|D	0.90444|0.88896	-1.61;-1.63;-1.52;-1.58;-2.67|-2.44	5.13|5.13	4.27|4.27	0.50696|0.50696	Cysteine-rich flanking region, C-terminal (2);|.	0.220708|.	0.47455|.	D|.	0.000231|.	D|D	0.93216|0.93216	0.7839|0.7839	M|M	0.83223|0.83223	2.63|2.63	0.51482|0.51482	D|D	0.999923|0.999923	P;P|.	0.50943|.	0.916;0.94|.	P;P|.	0.56398|.	0.466;0.797|.	D|D	0.93801|0.93801	0.7101|0.7101	10|7	0.59425|0.87932	D|D	0.04|0	.|.	13.0085|13.0085	0.58718|0.58718	0.0:0.0:0.7062:0.2938|0.0:0.0:0.7062:0.2938	.|.	879;887|.	O94813-3;O94813|.	.;SLIT2_HUMAN|.	P|S	879;887;891;883;883;88|17	ENSP00000427548:A879P;ENSP00000422591:A887P;ENSP00000273739:A891P;ENSP00000422261:A883P;ENSP00000421975:A88P|ENSP00000425609:C17S	ENSP00000273739:A891P|ENSP00000425609:C17S	A|C	+|+	1|2	0|0	SLIT2|SLIT2	20164623|20164623	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.937000|0.937000	0.57800|0.57800	4.330000|4.330000	0.59266|0.59266	1.264000|1.264000	0.44198|0.44198	0.460000|0.460000	0.39030|0.39030	GCT|TGC		0.408	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			4	94	0	0	0	1	0	4	94				
SUPT20H	55578	broad.mit.edu	37	13	37596275	37596275	+	Intron	SNP	G	G	A			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr13:37596275G>A	ENST00000350612.6	-	20	1812				SUPT20H_ENST00000464744.1_Intron|SUPT20H_ENST00000475892.1_Nonsense_Mutation_p.Q591*|SUPT20H_ENST00000356185.3_Intron|SUPT20H_ENST00000360252.4_Intron	NM_001014286.2	NP_001014308.2	Q8NEM7	SP20H_HUMAN	suppressor of Ty 20 homolog (S. cerevisiae)						autophagy (GO:0006914)|chromatin organization (GO:0006325)|gastrulation (GO:0007369)	SAGA complex (GO:0000124)|SAGA-type complex (GO:0070461)	transcription cofactor activity (GO:0003712)										GGCATTGCCTGGCTCAGAGAC	0.517																																						uc001uwk.3																			0				cervix(1)|endometrium(2)|large_intestine(6)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(1771-1773)Cag>Tag		Homo sapiens family with sequence similarity 48, member A (FAM48A), transcript variant 2, mRNA.							100.0	79.0	85.0					13																	37596275		692	1591	2283	SO:0001627	intron_variant	55578				autophagy|gastrulation	SAGA-type complex	protein binding	g.chr13:37596275G>A	AF093250	CCDS9362.1, CCDS31959.1, CCDS61311.1	13q13	2012-11-29	2012-11-29	2012-11-29	ENSG00000102710	ENSG00000102710			20596	protein-coding gene	gene with protein product	"""p38 interacting protein"", ""transcription factor (p38 interacting protein)"""	613417	"""chromosome 13 open reading frame 19"", ""family with sequence similarity 48, member A"""	C13orf19, FAM48A		12070015 , 16685401	Standard	NM_001278480		Approved	SPT20, bA421P11.4, P38IP	uc001uwg.3	Q8NEM7	OTTHUMG00000016747	ENST00000350612.6:c.1592-58C>T	13.37:g.37596275G>A			Somatic				FAM48A_uc010abt.3_Intron|FAM48A_uc001uwg.3_Intron|FAM48A_uc001uwh.3_Intron|FAM48A_uc001uwi.3_Intron|FAM48A_uc001uwj.3_Intron|FAM48A_uc001uwd.3_5'UTR|FAM48A_uc001uwe.3_Intron|FAM48A_uc001uwf.3_Intron	p.Q591*	NM_017569	NP_060039	WXS	Illumina GAIIx	Phase_I	Q8NEM7	FA48A_HUMAN		all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477)	19	2019	-		Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959)	562					E7ER46|Q71RF3|Q9Y6A6	Nonsense_Mutation	SNP	ENST00000350612.6	37	c.1771C>T	CCDS31959.1	.	.	.	.	.	.	.	.	.	.	G	38	6.644169	0.97730	.	.	ENSG00000102710	ENST00000475892	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	20.0396	0.97574	0.0:0.0:1.0:0.0	.	.	.	.	X	591	.	ENSP00000417510:Q591X	Q	-	1	0	FAM48A	36494275	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.307000	0.89964	2.814000	0.96858	0.563000	0.77884	CAG		0.517	SUPT20H-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354766.1	NM_017569		18	26	0	0	0	1	0	18	26				
ZC3H11A	9877	broad.mit.edu	37	1	203818917	203818917	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr1:203818917C>G	ENST00000545588.1	+	14	5529	c.1702C>G	c.(1702-1704)Cag>Gag	p.Q568E	ZC3H11A_ENST00000367210.1_Missense_Mutation_p.Q568E|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.Q568E|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.Q568E|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.Q568E	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	568					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GAAGCACATGCAGAAACAGCA	0.463																																						uc001hac.3																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(1702-1704)Cag>Gag		Homo sapiens zinc finger CCCH-type containing 11A (ZC3H11A), mRNA.							135.0	131.0	132.0					1																	203818917		2203	4300	6503	SO:0001583	missense	9877						nucleic acid binding|protein binding|zinc ion binding	g.chr1:203818917C>G		CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"""Zinc fingers, CCCH-type domain containing"""	29093	protein-coding gene	gene with protein product		613513	"""zinc finger CCCH-type domain containing 11A"""	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.1702C>G	1.37:g.203818917C>G	ENSP00000438527:p.Gln568Glu		Somatic				ZC3H11A_uc001had.3_Missense_Mutation_p.Q568E|ZC3H11A_uc001hae.3_Missense_Mutation_p.Q568E|ZC3H11A_uc001haf.3_Missense_Mutation_p.Q568E|ZC3H11A_uc010pqm.2_Missense_Mutation_p.Q514E|ZC3H11A_uc001hag.1_Missense_Mutation_p.Q568E	p.Q568E	NM_014827	NP_055642	WXS	Illumina GAIIx	Phase_I	O75152	ZC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		16	2318	+	all_cancers(21;0.0904)|all_epithelial(62;0.234)		568					Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Missense_Mutation	SNP	ENST00000545588.1	37	c.1702C>G	CCDS30978.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.398678	0.42512	.	.	ENSG00000058673	ENST00000367214;ENST00000537080;ENST00000367212;ENST00000332127;ENST00000545588;ENST00000367210	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	5.59	5.59	0.84812	.	0.476535	0.23801	N	0.044433	T	0.38904	0.1058	M	0.65975	2.015	0.30268	N	0.792519	B	0.10296	0.003	B	0.10450	0.005	T	0.45600	-0.9250	10	0.02654	T	1	-21.2671	15.0946	0.72223	0.0:1.0:0.0:0.0	.	568	O75152	ZC11A_HUMAN	E	568;514;568;568;568;568	ENSP00000356183:Q568E;ENSP00000356181:Q568E;ENSP00000333253:Q568E;ENSP00000438527:Q568E;ENSP00000356179:Q568E	ENSP00000333253:Q568E	Q	+	1	0	ZC3H11A	202085540	0.984000	0.35163	0.150000	0.22450	0.870000	0.49936	2.972000	0.49256	2.642000	0.89623	0.561000	0.74099	CAG		0.463	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	NM_014827		74	104	0	0	0	1	0	74	104				
CCDC170	80129	broad.mit.edu	37	6	151914317	151914317	+	Missense_Mutation	SNP	C	C	T	rs550166524		TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr6:151914317C>T	ENST00000239374.7	+	8	1468	c.1369C>T	c.(1369-1371)Cgg>Tgg	p.R457W	CCDC170_ENST00000367290.5_Missense_Mutation_p.R457W	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	457								p.R457W(1)									CTTTGACATGCGGCTGGACGT	0.443																																						uc003qol.3																			1	Substitution - Missense(1)	p.R457W(1)	large_intestine(1)								c.(1369-1371)Cgg>Tgg		Homo sapiens chromosome 6 open reading frame 97 (C6orf97), mRNA.							105.0	97.0	99.0					6																	151914317		1915	4139	6054	SO:0001583	missense	80129							g.chr6:151914317C>T	AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 97"""	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.1369C>T	6.37:g.151914317C>T	ENSP00000239374:p.Arg457Trp		Somatic					p.R457W	NM_025059	NP_079335	WXS	Illumina GAIIx	Phase_I	Q8IYT3	CF097_HUMAN			7	1458	+			457					Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Missense_Mutation	SNP	ENST00000239374.7	37	c.1369C>T	CCDS43515.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.262719	0.59431	.	.	ENSG00000120262	ENST00000239374;ENST00000367290	T;T	0.09350	2.99;2.99	5.87	4.09	0.47781	.	0.277720	0.34777	N	0.003697	T	0.15262	0.0368	M	0.75447	2.3	0.42436	D	0.992693	D	0.76494	0.999	P	0.59221	0.854	T	0.01195	-1.1422	10	0.48119	T	0.1	-1.4138	9.9802	0.41809	0.29:0.643:0.0:0.0671	.	457	Q8IYT3	CF097_HUMAN	W	457	ENSP00000239374:R457W;ENSP00000356259:R457W	ENSP00000239374:R457W	R	+	1	2	C6orf97	151956010	1.000000	0.71417	1.000000	0.80357	0.448000	0.32197	1.863000	0.39459	0.927000	0.37143	-0.127000	0.14921	CGG		0.443	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059		7	69	0	0	0	1	0	7	69				
SCN5A	6331	broad.mit.edu	37	3	38651439	38651439	+	Silent	SNP	C	C	T			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr3:38651439C>T	ENST00000333535.4	-	7	869	c.720G>A	c.(718-720)gtG>gtA	p.V240V	SCN5A_ENST00000449557.2_Silent_p.V240V|SCN5A_ENST00000425664.1_Silent_p.V240V|SCN5A_ENST00000451551.2_Silent_p.V240V|SCN5A_ENST00000413689.1_Silent_p.V240V|SCN5A_ENST00000414099.2_Silent_p.V240V|SCN5A_ENST00000423572.2_Silent_p.V240V|SCN5A_ENST00000455624.2_Silent_p.V240V|SCN5A_ENST00000443581.1_Silent_p.V240V|SCN5A_ENST00000450102.2_Silent_p.V240V			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	240					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	TCAGGGCCCCCACGATGGTCT	0.617																																						uc021wvo.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(718-720)gtG>gtA		Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						72.0	77.0	75.0					3																	38651439		2170	4281	6451	SO:0001819	synonymous_variant	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38651439C>T	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.720G>A	3.37:g.38651439C>T			Somatic				SCN5A_uc021wvk.1_Silent_p.V240V|SCN5A_uc021wvl.1_Silent_p.V240V|SCN5A_uc021wvm.1_Silent_p.V240V|SCN5A_uc021wvn.1_Silent_p.V240V|SCN5A_uc021wvp.1_Silent_p.V240V|SCN5A_uc021wvq.1_Silent_p.V240V|SCN5A_uc021wvr.1_Silent_p.V240V|SCN5A_uc021wvs.1_Silent_p.V240V|SCN5A_uc021wvt.1_Silent_p.V240V|SCN5A_uc021wvu.1_Silent_p.V240V|SCN5A_uc021wvv.1_Silent_p.V240V|SCN5A_uc021wvj.1_Silent_p.V106V|SCN5A_uc021wvi.1_Silent_p.V106V|SCN5A_uc010hhl.1_Silent_p.V63V	p.V240V	NM_198056	NP_932173	WXS	Illumina GAIIx	Phase_I	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	5	772	-	Medulloblastoma(35;0.163)		240					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	ENST00000333535.4	37	c.720G>A	CCDS46796.1																																																																																				0.617	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		17	54	0	0	0	1	0	17	54				
MYO9A	4649	broad.mit.edu	37	15	72190581	72190581	+	Missense_Mutation	SNP	A	A	T			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr15:72190581A>T	ENST00000356056.5	-	25	4735	c.4263T>A	c.(4261-4263)ttT>ttA	p.F1421L	MYO9A_ENST00000566885.1_Missense_Mutation_p.F1041L|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.F1402L|MYO9A_ENST00000564571.1_Missense_Mutation_p.F1421L|MYO9A_ENST00000424560.1_Missense_Mutation_p.F1421L	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1421	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GGGGGATATAAAAAAAAGTAG	0.398																																						uc002atl.4																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(4261-4263)ttT>ttA		Homo sapiens myosin IXA (MYO9A), mRNA.							63.0	64.0	63.0					15																	72190581		2199	4297	6496	SO:0001583	missense	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity	g.chr15:72190581A>T	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.4263T>A	15.37:g.72190581A>T	ENSP00000348349:p.Phe1421Leu		Somatic				MYO9A_uc010biq.3_Missense_Mutation_p.F1041L|MYO9A_uc002atn.1_Missense_Mutation_p.F1402L|MYO9A_uc002atk.3_Missense_Mutation_p.F145L|MYO9A_uc002atm.1_Missense_Mutation_p.F145L	p.F1421L	NM_006901	NP_008832	WXS	Illumina GAIIx	Phase_I	B2RTY4	MYO9A_HUMAN			24	4736	-			1421			Tail.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.4263T>A	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	A	16.40	3.111342	0.56398	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	D;D;D	0.84070	-1.8;-1.8;-1.8	5.82	3.51	0.40186	.	.	.	.	.	D	0.83704	0.5312	L	0.43152	1.355	0.35150	D	0.76972	P;D;B	0.76494	0.89;0.999;0.278	B;D;B	0.68765	0.389;0.96;0.084	T	0.82606	-0.0374	9	0.25751	T	0.34	.	6.0857	0.19966	0.7161:0.0:0.2839:0.0	.	1402;1421;1421	B2RTY4-2;B2RTY4-4;B2RTY4	.;.;MYO9A_HUMAN	L	1421;1421;1402	ENSP00000348349:F1421L;ENSP00000399162:F1421L;ENSP00000398250:F1402L	ENSP00000348349:F1421L	F	-	3	2	MYO9A	69977635	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	2.439000	0.44846	1.042000	0.40150	0.528000	0.53228	TTT		0.398	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		35	39	0	0	0	1	0	35	39				
ALS2CL	259173	broad.mit.edu	37	3	46725278	46725278	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr3:46725278C>G	ENST00000318962.4	-	9	989	c.906G>C	c.(904-906)caG>caC	p.Q302H	ALS2CL_ENST00000415953.1_Missense_Mutation_p.Q302H	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	302					endosome organization (GO:0007032)|protein localization (GO:0008104)	cytoplasmic membrane-bounded vesicle (GO:0016023)	GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		TCACCTGGCCCTGGGAGTCCT	0.602																																						uc003cqa.2																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29						c.(904-906)caG>caC		Homo sapiens ALS2 C-terminal like (ALS2CL), transcript variant 2, mRNA.							139.0	141.0	140.0					3																	46725278		2203	4300	6503	SO:0001583	missense	259173				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|identical protein binding	g.chr3:46725278C>G	AK074118	CCDS2743.1, CCDS43080.1	3p21.31	2008-01-30			ENSG00000178038	ENSG00000178038			20605	protein-coding gene	gene with protein product		612402				15388334, 8889548, 17239822	Standard	NM_147129		Approved	FLJ36525, RN49018, DKFZp686I0110	uc003cqb.2	Q60I27	OTTHUMG00000128673	ENST00000318962.4:c.906G>C	3.37:g.46725278C>G	ENSP00000313670:p.Gln302His		Somatic				ALS2CL_uc003cpz.2_5'Flank|ALS2CL_uc003cqc.2_Non-coding_Transcript|ALS2CL_uc003cqb.2_Missense_Mutation_p.Q302H	p.Q302H	NM_001190707	NP_667340	WXS	Illumina GAIIx	Phase_I	Q60I27	AL2CL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)	8	1099	-			302					Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Missense_Mutation	SNP	ENST00000318962.4	37	c.906G>C	CCDS2743.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.136915	0.37728	.	.	ENSG00000178038	ENST00000318962;ENST00000415953	T;T	0.57436	0.4;0.4	5.01	2.2	0.27929	.	0.000000	0.56097	D	0.000022	T	0.47838	0.1467	M	0.78049	2.395	0.80722	D	1	B	0.25521	0.128	B	0.23275	0.045	T	0.44034	-0.9354	10	0.62326	D	0.03	.	4.611	0.12402	0.0:0.5765:0.1608:0.2627	.	302	Q60I27	AL2CL_HUMAN	H	302	ENSP00000313670:Q302H;ENSP00000413223:Q302H	ENSP00000313670:Q302H	Q	-	3	2	ALS2CL	46700282	0.004000	0.15560	0.950000	0.38849	0.875000	0.50365	0.357000	0.20199	0.279000	0.22186	0.655000	0.94253	CAG		0.602	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250567.3	NM_147129		11	203	0	0	0	1	0	11	203				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	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)	uc003vwc.4	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(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(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		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	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		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	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		25	43	0	0	0	1	0	25	43				
CACNB1	782	broad.mit.edu	37	17	37333711	37333711	+	Silent	SNP	A	A	G			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr17:37333711A>G	ENST00000394303.3	-	13	1431	c.1224T>C	c.(1222-1224)taT>taC	p.Y408Y	RP5-906A24.2_ENST00000579256.1_RNA|CACNB1_ENST00000394310.3_Silent_p.Y408Y|CACNB1_ENST00000344140.5_Silent_p.Y453Y	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	408					axon guidance (GO:0007411)|protein targeting to membrane (GO:0006612)|transport (GO:0006810)	sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Dronedarone(DB04855)|Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	TGGCCTTCCAATAGGCTTCCA	0.612																																					Esophageal Squamous(5;100 366 38393 41452 45827)	uc002hrm.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						c.(1222-1224)taT>taC		Homo sapiens calcium channel, voltage-dependent, beta 1 subunit (CACNB1), transcript variant 1, mRNA.	Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)						70.0	60.0	64.0					17																	37333711		2203	4300	6503	SO:0001819	synonymous_variant	782				axon guidance	voltage-gated calcium channel complex		g.chr17:37333711A>G		CCDS11334.1, CCDS42311.1, CCDS45665.1	17q21-q22	2013-03-20			ENSG00000067191	ENSG00000067191		"""Calcium channel subunits"""	1401	protein-coding gene	gene with protein product		114207		CACNLB1		8381767, 8395940	Standard	NM_000723		Approved		uc002hrm.2	Q02641	OTTHUMG00000133217	ENST00000394303.3:c.1224T>C	17.37:g.37333711A>G			Somatic				CACNB1_uc002hrl.1_Silent_p.Y180Y|CACNB1_uc002hrn.3_Silent_p.Y408Y|CACNB1_uc002hro.3_Silent_p.Y453Y	p.Y408Y	NM_000723	NP_000714	WXS	Illumina GAIIx	Phase_I	Q02641	CACB1_HUMAN			12	1432	-			408					A8K114|O15331|Q02639|Q02640|Q8N3X9|Q9C085|Q9UD79	Silent	SNP	ENST00000394303.3	37	c.1224T>C	CCDS42311.1																																																																																				0.612	CACNB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256945.3			11	17	0	0	0	1	0	11	17				
MBD5	55777	broad.mit.edu	37	2	149240876	149240876	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr2:149240876T>C	ENST00000407073.1	+	10	3713	c.2716T>C	c.(2716-2718)Tca>Cca	p.S906P	MBD5_ENST00000404807.1_Missense_Mutation_p.S906P	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	906					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CAACAGCACTTCAAACAACCA	0.483																																						uc002twm.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62						c.(2716-2718)Tca>Cca		Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.							281.0	259.0	267.0					2																	149240876		2203	4300	6503	SO:0001583	missense	55777					chromosome|nucleus	DNA binding|chromatin binding	g.chr2:149240876T>C	AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.2716T>C	2.37:g.149240876T>C	ENSP00000386049:p.Ser906Pro		Somatic				MBD5_uc010zbs.2_Non-coding_Transcript|MBD5_uc002two.3_5'Flank|MBD5_uc002twp.3_5'Flank	p.S906P	NM_018328	NP_060798	WXS	Illumina GAIIx	Phase_I	Q9P267	MBD5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0569)	9	3713	+			906					A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	ENST00000407073.1	37	c.2716T>C	CCDS33302.1	.	.	.	.	.	.	.	.	.	.	T	15.23	2.771008	0.49680	.	.	ENSG00000204406	ENST00000407073;ENST00000404807	T;T	0.47869	0.83;0.85	5.66	3.27	0.37495	.	0.130057	0.35495	N	0.003175	T	0.24967	0.0606	N	0.14661	0.345	0.30641	N	0.756417	B	0.09022	0.002	B	0.06405	0.002	T	0.12708	-1.0537	10	0.21540	T	0.41	-3.5098	5.7946	0.18379	0.0:0.1402:0.1444:0.7154	.	906	Q9P267	MBD5_HUMAN	P	906	ENSP00000386049:S906P;ENSP00000384672:S906P	ENSP00000384672:S906P	S	+	1	0	MBD5	148957346	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.347000	0.33975	0.941000	0.37499	0.379000	0.24179	TCA		0.483	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			3	177	0	0	0	1	0	3	177				
PKD1L2	114780	broad.mit.edu	37	16	81232604	81232604	+	RNA	SNP	G	G	A			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr16:81232604G>A	ENST00000525539.1	-	0	1205				PKD1L2_ENST00000337114.4_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ACGGTAGCGAGCCCTTTTGGG	0.532																																						uc002fgh.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1204-1206)ggC>ggT		Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.							91.0	92.0	92.0					16																	81232604		1943	4151	6094			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81232604G>A	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81232604G>A			Somatic				PKD1L2_uc002fgj.3_Silent_p.G402G	p.G402G	NM_052892	NP_443124	WXS	Illumina GAIIx	Phase_I	Q7Z442	PK1L2_HUMAN			6	1206	-			402					Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Silent	SNP	ENST00000525539.1	37	c.1206C>T																																																																																					0.532	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			38	56	0	0	0	1	0	38	56				
MMP3	4314	broad.mit.edu	37	11	102711322	102711322	+	Missense_Mutation	SNP	T	T	A			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr11:102711322T>A	ENST00000299855.5	-	5	884	c.628A>T	c.(628-630)Acc>Tcc	p.T210S		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	210					cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|positive regulation of oxidative stress-induced cell death (GO:1903209)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)	AATAAATTGGTCCCTATTTAA	0.388																																						uc001phj.1																			0				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(628-630)Acc>Tcc		Homo sapiens matrix metallopeptidase 3 (stromelysin 1, progelatinase) (MMP3), mRNA.	Marimastat(DB00786)|Simvastatin(DB00641)						75.0	75.0	75.0					11																	102711322		2203	4299	6502	SO:0001583	missense	4314				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102711322T>A	X05232	CCDS8323.1	11q22.3	2012-10-02	2005-08-08		ENSG00000149968	ENSG00000149968	3.4.24.17		7173	protein-coding gene	gene with protein product		185250	"""matrix metalloproteinase 3 (stromelysin 1, progelatinase)"""	STMY1, STMY			Standard	NM_002422		Approved		uc001phj.1	P08254	OTTHUMG00000048254	ENST00000299855.5:c.628A>T	11.37:g.102711322T>A	ENSP00000299855:p.Thr210Ser		Somatic					p.T210S	NM_002422	NP_002413	WXS	Illumina GAIIx	Phase_I	P08254	MMP3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0142)	4	693	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	210					B2R8B8|Q3B7S0|Q6GRF8	Missense_Mutation	SNP	ENST00000299855.5	37	c.628A>T	CCDS8323.1	.	.	.	.	.	.	.	.	.	.	T	8.466	0.856497	0.17106	.	.	ENSG00000149968	ENST00000299855	T	0.21543	2.0	4.98	2.59	0.31030	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	1.216660	0.06490	N	0.734413	T	0.31104	0.0786	M	0.75615	2.305	0.09310	N	1	B	0.26147	0.143	B	0.33620	0.167	T	0.38607	-0.9653	10	0.54805	T	0.06	.	8.9501	0.35783	0.0:0.2817:0.0:0.7183	.	210	P08254	MMP3_HUMAN	S	210	ENSP00000299855:T210S	ENSP00000299855:T210S	T	-	1	0	MMP3	102216532	0.000000	0.05858	0.950000	0.38849	0.294000	0.27393	0.031000	0.13710	0.937000	0.37394	-0.370000	0.07254	ACC		0.388	MMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109758.2	NM_002422		18	48	0	0	0	1	0	18	48				
ADAMTS19	171019	broad.mit.edu	37	5	128956351	128956351	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr5:128956351G>C	ENST00000274487.4	+	9	1646	c.1501G>C	c.(1501-1503)Gat>Cat	p.D501H	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	501	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		ATCGTGTGCTGATGGTCTTCA	0.358																																						uc003kvb.1																			0				NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91						c.(1501-1503)Gat>Cat		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.							158.0	143.0	148.0					5																	128956351		2203	4300	6503	SO:0001583	missense	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:128956351G>C	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.1501G>C	5.37:g.128956351G>C	ENSP00000274487:p.Asp501His		Somatic				ADAMTS19_uc010jdh.1_Non-coding_Transcript	p.D501H	NM_133638	NP_598377	WXS	Illumina GAIIx	Phase_I	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	8	1501	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	501			Peptidase M12B.			Missense_Mutation	SNP	ENST00000274487.4	37	c.1501G>C	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.156141	0.57259	.	.	ENSG00000145808	ENST00000274487	D	0.87179	-2.22	4.51	3.64	0.41730	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.214099	0.39544	N	0.001322	D	0.88727	0.6515	L	0.34521	1.04	0.45108	D	0.998123	D	0.89917	1.0	D	0.75484	0.986	D	0.87454	0.2403	9	.	.	.	.	13.731	0.62787	0.0758:0.0:0.9242:0.0	.	501	Q8TE59	ATS19_HUMAN	H	501	ENSP00000274487:D501H	.	D	+	1	0	ADAMTS19	128984250	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.384000	0.66225	1.493000	0.48517	-0.150000	0.13652	GAT		0.358	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		8	111	0	0	0	1	0	8	111				
VPS52	6293	broad.mit.edu	37	6	33232649	33232649	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr6:33232649C>T	ENST00000445902.2	-	13	1528	c.1310G>A	c.(1309-1311)tGc>tAc	p.C437Y	VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000436044.2_Missense_Mutation_p.C312Y	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	437					ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						GGCATCGTAGCAGTCAGCTAG	0.438																																						uc003odm.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1309-1311)tGc>tAc		Homo sapiens vacuolar protein sorting 52 homolog (S. cerevisiae) (VPS52), mRNA.							287.0	264.0	272.0					6																	33232649		1511	2709	4220	SO:0001583	missense	6293				protein transport	Golgi apparatus|endosome membrane		g.chr6:33232649C>T	AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"""SAC2 suppressor of actin mutations 2-like (yeast)"", ""vacuolar protein sorting 52 (yeast)"""	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.1310G>A	6.37:g.33232649C>T	ENSP00000409952:p.Cys437Tyr		Somatic				VPS52_uc003odn.1_Missense_Mutation_p.C248Y	p.C437Y	NM_022553	NP_072047	WXS	Illumina GAIIx	Phase_I	Q8N1B4	VPS52_HUMAN			12	1520	-			437					A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Missense_Mutation	SNP	ENST00000445902.2	37	c.1310G>A	CCDS4770.2	.	.	.	.	.	.	.	.	.	.	C	24.1	4.497897	0.85069	.	.	ENSG00000223501	ENST00000445902;ENST00000418054;ENST00000436044	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.73353	0.3576	M	0.78801	2.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.99	T	0.68135	-0.5489	9	0.25106	T	0.35	-16.1158	16.6301	0.85031	0.0:1.0:0.0:0.0	.	248;437	B3KMF7;Q8N1B4	.;VPS52_HUMAN	Y	437;415;312	.	ENSP00000414785:C415Y	C	-	2	0	VPS52	33340627	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	6.293000	0.72731	2.875000	0.98604	0.643000	0.83706	TGC		0.438	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076598.2	NM_022553		11	212	0	0	0	1	0	11	212				
PPL	5493	broad.mit.edu	37	16	4934851	4934851	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr16:4934851T>C	ENST00000345988.2	-	22	3894	c.3805A>G	c.(3805-3807)Atc>Gtc	p.I1269V	PPL_ENST00000590782.2_Missense_Mutation_p.I1267V	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1269					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						AGCTGGTAGATCTCTAAATCA	0.507																																						uc002cyd.1																			0		p.E1268K(1)		breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						c.(3805-3807)Atc>Gtc		Homo sapiens periplakin (PPL), mRNA.							186.0	182.0	184.0					16																	4934851		2197	4300	6497	SO:0001583	missense	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4934851T>C	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.3805A>G	16.37:g.4934851T>C	ENSP00000340510:p.Ile1269Val		Somatic					p.I1269V	NM_002705	NP_002696	WXS	Illumina GAIIx	Phase_I	O60437	PEPL_HUMAN			21	3895	-			1269					O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	37	c.3805A>G	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	t	11.01	1.514285	0.27123	.	.	ENSG00000118898	ENST00000345988	T	0.40756	1.02	5.62	4.51	0.55191	.	0.000000	0.85682	D	0.000000	T	0.33904	0.0879	L	0.41824	1.3	0.38881	D	0.95691	B	0.09022	0.002	B	0.12837	0.008	T	0.11792	-1.0573	10	0.32370	T	0.25	.	11.7088	0.51612	0.0:0.0698:0.0:0.9302	.	1269	O60437	PEPL_HUMAN	V	1269	ENSP00000340510:I1269V	ENSP00000340510:I1269V	I	-	1	0	PPL	4874852	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	3.372000	0.52387	0.940000	0.37473	0.529000	0.55759	ATC		0.507	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		10	168	0	0	0	1	0	10	168				
ZNF503	84858	broad.mit.edu	37	10	77158996	77159007	+	In_Frame_Del	DEL	GGCCGTTAGCGA	GGCCGTTAGCGA	-	rs535700950	byFrequency	TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr10:77158996_77159007delGGCCGTTAGCGA	ENST00000372524.4	-	2	1927_1938	c.1441_1452delTCGCTAACGGCC	c.(1441-1452)tcgctaacggccdel	p.SLTA481del	RP11-399K21.11_ENST00000418818.2_lincRNA|ZNF503_ENST00000535216.1_In_Frame_Del_p.SLTA481del|ZNF503-AS2_ENST00000466942.2_RNA	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	481	Ala-rich.				G1 to G0 transition involved in cell differentiation (GO:0070315)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|neural precursor cell proliferation (GO:0061351)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					CAGCCGCGGCGGCCGTTAGCGAGGAGTGCACA	0.684																																						uc001jxg.3																			0				lung(4)|ovary(1)|skin(1)	6						c.(1441-1452)tcgctaacggccdel		Homo sapiens zinc finger protein 503 (ZNF503), mRNA.																																				SO:0001651	inframe_deletion	84858				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr10:77158996_77159007delGGCCGTTAGCGA	AK127647	CCDS7350.1	10q22.3	2011-02-09			ENSG00000165655	ENSG00000165655		"""Zinc fingers, C2H2-type"""	23589	protein-coding gene	gene with protein product		613902				12477932	Standard	NM_032772		Approved	FLJ45745, MGC2555	uc001jxg.3	Q96F45	OTTHUMG00000018526	ENST00000372524.4:c.1441_1452delTCGCTAACGGCC	10.37:g.77158996_77159007delGGCCGTTAGCGA	ENSP00000361602:p.Ser481_Ala484del		Somatic				ZNF503-AS2_uc010qlf.2_5'Flank	p.SLTA481del	NM_032772	NP_116161	WXS	Illumina GAIIx	Phase_I	Q96F45	ZN503_HUMAN			1	1777_1788	-	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)		481			Ala-rich.		Q8NAC5|Q96E25|Q96IJ0	In_Frame_Del	DEL	ENST00000372524.4	37	c.1441_1452delTCGCTAACGGCC	CCDS7350.1																																																																																				0.684	ZNF503-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048826.1	NM_032772		11	19						11	19	---	---	---	---
