#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
TOR1AIP1	26092	broad.mit.edu	37	1	179887369	179887369	+	Silent	SNP	T	T	C			TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	g.chr1:179887369T>C	ENST00000606911.2	+	10	1938	c.1747T>C	c.(1747-1749)Tta>Cta	p.L583L	TOR1AIP1_ENST00000528443.2_Silent_p.L584L|TOR1AIP1_ENST00000271583.3_Silent_p.L599L|TOR1AIP1_ENST00000435319.4_Silent_p.L462L			Q5JTV8	TOIP1_HUMAN	torsin A interacting protein 1	583	Interaction with TOR1A.				positive regulation of ATPase activity (GO:0032781)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						GGGCATCTGCTTATAAGAAGT	0.418																																						uc001gnq.3																			0				breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						c.(1747-1749)Tta>Cta		Homo sapiens torsin A interacting protein 1 (TOR1AIP1), mRNA.							32.0	35.0	34.0					1																	179887369		2196	4284	6480	SO:0001819	synonymous_variant	26092					integral to membrane|nuclear inner membrane		g.chr1:179887369T>C		CCDS1335.1, CCDS65737.1	1q24.2	2008-02-05			ENSG00000143337	ENSG00000143337			29456	protein-coding gene	gene with protein product	"""lamina associated polypeptide 1B"""	614512				12061773, 15767459	Standard	NM_015602		Approved	LAP1B, FLJ13142	uc001gnp.2	Q5JTV8	OTTHUMG00000035257	ENST00000606911.2:c.1747T>C	1.37:g.179887369T>C							p.L583L	NM_015602	NP_056417	Q5JTV8	TOIP1_HUMAN			9	1965	+			583					A8K630|B0QZ57|Q5JTV6|Q8IZ65|Q9H8Y6|Q9HAJ1|Q9NV52|Q9Y3X5	Silent	SNP	ENST00000606911.2	37	c.1747T>C	CCDS1335.1																																																																																				0.418	TOR1AIP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000100313.4	NM_015602		3	41	0	0	0	1	0	3	41				
LAMP3	27074	broad.mit.edu	37	3	182871615	182871615	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	g.chr3:182871615G>A	ENST00000265598.3	-	2	869	c.614C>T	c.(613-615)gCt>gTt	p.A205V	LAMP3_ENST00000466939.1_Missense_Mutation_p.A181V	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	205	Thr-rich.				cell proliferation (GO:0008283)|immune system process (GO:0002376)	alveolar lamellar body membrane (GO:0097233)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			GGCAGGTGCAGCTGTGCGGGT	0.547																																						uc003flh.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28						c.(613-615)gCt>gTt		Homo sapiens lysosomal-associated membrane protein 3 (LAMP3), mRNA.							114.0	112.0	113.0					3																	182871615		2203	4300	6503	SO:0001583	missense	27074				cell proliferation	integral to membrane|lysosomal membrane		g.chr3:182871615G>A	AB013924	CCDS3242.1	3q26.3-q27	2011-11-24			ENSG00000078081	ENSG00000078081		"""CD molecules"""	14582	protein-coding gene	gene with protein product		605883				9721848	Standard	NM_014398		Approved	LAMP, TSC403, DC-LAMP, DCLAMP, CD208	uc003flh.4	Q9UQV4	OTTHUMG00000158387	ENST00000265598.3:c.614C>T	3.37:g.182871615G>A	ENSP00000265598:p.Ala205Val						p.A205V	NM_014398	NP_055213	Q9UQV4	LAMP3_HUMAN	all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)		1	838	-	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		205			Thr-rich.		D3DNS4|O94781|Q8NEC8	Missense_Mutation	SNP	ENST00000265598.3	37	c.614C>T	CCDS3242.1	.	.	.	.	.	.	.	.	.	.	g	18.08	3.544307	0.65198	.	.	ENSG00000078081	ENST00000265598;ENST00000466939	T;T	0.33865	1.39;1.39	5.81	3.08	0.35506	.	0.747577	0.12286	N	0.482415	T	0.35278	0.0926	M	0.64997	1.995	0.09310	N	1	P	0.34462	0.454	B	0.34138	0.176	T	0.23190	-1.0195	10	0.59425	D	0.04	-1.5306	8.0317	0.30470	0.2508:0.0:0.7492:0.0	.	205	Q9UQV4	LAMP3_HUMAN	V	205;181	ENSP00000265598:A205V;ENSP00000418912:A181V	ENSP00000265598:A205V	A	-	2	0	LAMP3	184354309	0.006000	0.16342	0.000000	0.03702	0.010000	0.07245	1.496000	0.35638	0.377000	0.24735	0.655000	0.94253	GCT		0.547	LAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350863.1			4	105	0	0	0	1	0	4	105				
PPP2R5C	5527	broad.mit.edu	37	14	102276323	102276323	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	g.chr14:102276323C>T	ENST00000334743.5	+	1	92	c.44C>T	c.(43-45)gCg>gTg	p.A15V	PPP2R5C_ENST00000556068.1_Intron|PPP2R5C_ENST00000554442.1_Intron|CTD-2017C7.2_ENST00000554859.1_RNA|PPP2R5C_ENST00000557714.1_Missense_Mutation_p.A15V|PPP2R5C_ENST00000445439.3_Missense_Mutation_p.A15V|PPP2R5C_ENST00000557095.1_Missense_Mutation_p.A15V|PPP2R5C_ENST00000422945.2_Intron|PPP2R5C_ENST00000556946.1_Missense_Mutation_p.A15V|PPP2R5C_ENST00000350249.3_Missense_Mutation_p.A15V|PPP2R5C_ENST00000328724.5_Intron	NM_002719.3	NP_002710.2	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	15					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell proliferation (GO:0008285)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GTGGTGGATGCGGCCAACTCC	0.498																																						uc001yko.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(43-45)gCg>gTg		Homo sapiens protein phosphatase 2, regulatory subunit B', gamma (PPP2R5C), transcript variant 1, mRNA.							146.0	126.0	133.0					14																	102276323		2203	4300	6503	SO:0001583	missense	5527				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr14:102276323C>T	L42375	CCDS9964.1, CCDS9965.1, CCDS45163.1, CCDS53911.1, CCDS53912.1	14q32.31	2010-06-18	2010-04-14		ENSG00000078304	ENSG00000078304		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9311	protein-coding gene	gene with protein product		601645	"""protein phosphatase 2, regulatory subunit B (B56), gamma isoform"", ""protein phosphatase 2, regulatory subunit B', gamma isoform"""			7592815	Standard	NM_002719		Approved	B56G, PR61G	uc001ykk.3	Q13362		ENST00000334743.5:c.44C>T	14.37:g.102276323C>T	ENSP00000333905:p.Ala15Val					PPP2R5C_uc001ykj.4_Intron|PPP2R5C_uc010txr.2_Intron|PPP2R5C_uc001ykk.3_Intron|PPP2R5C_uc010txt.2_Missense_Mutation_p.A5V|PPP2R5C_uc001ykn.3_Missense_Mutation_p.A15V|PPP2R5C_uc001ykp.3_Missense_Mutation_p.A15V|PPP2R5C_uc010txs.1_Missense_Mutation_p.A5V	p.A15V	NM_002719	NP_002710	Q13362	2A5G_HUMAN			0	184	+			15					B4DYJ8|B5BUA5|F5GWP3|Q14391|Q15060|Q15174|Q6ZN33	Missense_Mutation	SNP	ENST00000334743.5	37	c.44C>T	CCDS9964.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.032136	0.75504	.	.	ENSG00000078304	ENST00000350249;ENST00000557621;ENST00000445439;ENST00000334743;ENST00000557095	T;T	0.46819	0.87;0.86	5.63	5.63	0.86233	.	.	.	.	.	T	0.51058	0.1652	N	0.10972	0.075	0.80722	D	1	D;D;B;D	0.76494	0.986;0.999;0.0;0.992	P;D;B;D	0.71184	0.835;0.972;0.0;0.921	T	0.53535	-0.8425	9	0.30078	T	0.28	.	19.7096	0.96089	0.0:1.0:0.0:0.0	.	15;15;15;15	B4DI74;Q13362-3;Q13362;Q13362-2	.;.;2A5G_HUMAN;.	V	15	ENSP00000262239:A15V;ENSP00000333905:A15V	ENSP00000333905:A15V	A	+	2	0	PPP2R5C	101346076	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	5.375000	0.66173	2.652000	0.90054	0.655000	0.94253	GCG		0.498	PPP2R5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414373.2	NM_002719		3	50	0	0	0	1	0	3	50				
ATP1A3	478	broad.mit.edu	37	19	42471325	42471325	+	Intron	SNP	G	G	T			TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	g.chr19:42471325G>T	ENST00000302102.5	-	22	3164				ATP1A3_ENST00000543770.1_Intron|ATP1A3_ENST00000602133.1_Intron|ATP1A3_ENST00000545399.1_Intron	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide						adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						CCAGCAGGGCGAGGGGAGCCT	0.667																																						uc002osh.3																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						c.(3088-3090)tCg>tAg		Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.																																				SO:0001627	intron_variant	478				ATP biosynthetic process	Golgi apparatus|endoplasmic reticulum	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr19:42471325G>T		CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"""ATPases / P-type"""	801	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-3"", ""sodium pump subunit alpha-3"", ""sodium-potassium ATPase catalytic subunit alpha-3"""	182350	"""dystonia 12"""	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.3013+75C>A	19.37:g.42471325G>T						ATP1A3_uc010xwf.2_Intron|ATP1A3_uc010xwg.2_Intron|ATP1A3_uc002osg.3_Intron|ATP1A3_uc010xwh.2_Intron	p.S1030*			P13637	AT1A3_HUMAN			21	3243	-			0					B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Nonsense_Mutation	SNP	ENST00000302102.5	37	c.3089C>A	CCDS12594.1	.	.	.	.	.	.	.	.	.	.	G	32	5.141777	0.94560	.	.	ENSG00000105409	ENST00000441343	.	.	.	3.2	-4.6	0.03390	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.8025	0.23758	0.6822:0.1492:0.1686:0.0	.	.	.	.	X	1030	.	.	S	-	2	0	ATP1A3	47163165	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.451000	0.06795	-0.561000	0.06094	-0.448000	0.05591	TCG		0.667	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	NM_152296		2	8	0	0	0	1	0	2	8				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	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						p.V600E	NM_004333	NP_004324	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		23	62	0	0	0	1	0	23	62				
SYTL4	94121	broad.mit.edu	37	X	99933584	99933584	+	Silent	SNP	G	G	A	rs144944700	byFrequency	TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	g.chrX:99933584G>A	ENST00000372989.1	-	18	2002	c.1671C>T	c.(1669-1671)ccC>ccT	p.P557P	SYTL4_ENST00000491602.1_5'UTR|SYTL4_ENST00000263033.5_Silent_p.P557P|SYTL4_ENST00000454200.2_Silent_p.P559P|SYTL4_ENST00000455616.1_Silent_p.P557P|SYTL4_ENST00000276141.6_Silent_p.P557P	NM_080737.2	NP_542775.2	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	557	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|multivesicular body sorting pathway (GO:0071985)|negative regulation of insulin secretion (GO:0046676)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	neurexin family protein binding (GO:0042043)|phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TGTTCCTCATGGGAAGGAGGT	0.493													G|||	5	0.0013245	0.0	0.0	3775	,	,		14941	0.0		0.001	False		,,,				2504	0.0041					uc004egd.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27						c.(1669-1671)ccC>ccT		Homo sapiens synaptotagmin-like 4 (SYTL4), transcript variant 1, mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	G	,,	3,3832		0,3,0,1629,571	115.0	97.0	103.0		1671,1671,1671	-2.1	1.0	X	dbSNP_134	103	14,6714		0,8,6,2420,1866	no	coding-synonymous,coding-synonymous,coding-synonymous	SYTL4	NM_001129896.2,NM_001174068.1,NM_080737.2	,,	0,11,6,4049,2437	AA,AG,A,GG,G		0.2081,0.0782,0.1609	,,	557/672,557/672,557/672	99933584	17,10546	2203	4300	6503	SO:0001819	synonymous_variant	94121				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	Rab GTPase binding|neurexin binding|phospholipid binding|transporter activity|zinc ion binding	g.chrX:99933584G>A		CCDS14472.1	Xq21.33	2008-07-31	2008-07-31		ENSG00000102362	ENSG00000102362			15588	protein-coding gene	gene with protein product	"""granuphilin-a"", ""exophilin-2"""	300723					Standard	NM_080737		Approved		uc010nnc.3	Q96C24	OTTHUMG00000022004	ENST00000372989.1:c.1671C>T	X.37:g.99933584G>A						SYTL4_uc004egc.3_5'UTR|SYTL4_uc010nnb.3_Silent_p.P229P|SYTL4_uc010nnc.3_Silent_p.P557P|SYTL4_uc004ege.4_Silent_p.P557P|SYTL4_uc004egf.4_Silent_p.P557P	p.P557P	NM_080737	NP_542775	Q96C24	SYTL4_HUMAN			17	2027	-			557			C2 2.		Q5H9J3|Q5JPG8|Q8N9P4|Q9H4R0|Q9H4R1	Silent	SNP	ENST00000372989.1	37	c.1671C>T	CCDS14472.1																																																																																				0.493	SYTL4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057488.1	NM_080737		3	56	0	0	0	1	0	3	56				
DCAF12L2	340578	broad.mit.edu	37	X	125299510	125299510	+	Missense_Mutation	SNP	A	A	T			TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	g.chrX:125299510A>T	ENST00000360028.2	-	1	424	c.398T>A	c.(397-399)aTc>aAc	p.I133N	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.I133N			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	133										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CATGAGGGGGATGCGCGTGAT	0.642																																						uc004euk.2																			0		p.R132L(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						c.(397-399)aTc>aAc		Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA.							88.0	82.0	84.0					X																	125299510		2203	4300	6503	SO:0001583	missense	340578							g.chrX:125299510A>T	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.398T>A	X.37:g.125299510A>T	ENSP00000353128:p.Ile133Asn						p.I133N	NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN			0	571	-			133					B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	c.398T>A	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	a	11.58	1.682049	0.29872	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.38240	1.15;1.15	3.89	2.69	0.31865	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.48607	0.1509	M	0.82716	2.605	0.32600	N	0.526046	D	0.61080	0.989	P	0.52189	0.692	T	0.61098	-0.7131	9	0.72032	D	0.01	.	6.4507	0.21902	0.752:0.248:0.0:0.0	.	133	Q5VW00	DC122_HUMAN	N	133	ENSP00000441489:I133N;ENSP00000353128:I133N	ENSP00000353128:I133N	I	-	2	0	DCAF12L2	125127191	1.000000	0.71417	0.019000	0.16419	0.004000	0.04260	7.273000	0.78527	0.633000	0.30452	0.438000	0.28831	ATC		0.642	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		4	55	0	0	0	1	0	4	55				
PLK2	10769	broad.mit.edu	37	5	57751948	57751948	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	g.chr5:57751948G>A	ENST00000274289.3	-	10	1589	c.1289C>T	c.(1288-1290)tCt>tTt	p.S430F	PLK2_ENST00000502671.1_Intron	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	430					G1/S transition of mitotic cell cycle (GO:0000082)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|mitotic cell cycle checkpoint (GO:0007093)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|Rap protein signal transduction (GO:0032486)|Ras protein signal transduction (GO:0007265)|regulation of centriole replication (GO:0046599)|regulation of synaptic plasticity (GO:0048167)	centriole (GO:0005814)|centrosome (GO:0005813)|dendrite (GO:0030425)|intracellular (GO:0005622)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		GGGTGTTCCAGACCTGGCAAC	0.473																																						uc003jrn.3																			0				endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26						c.(1288-1290)tCt>tTt		Homo sapiens polo-like kinase 2 (PLK2), transcript variant 1, mRNA.							100.0	95.0	97.0					5																	57751948		2203	4300	6503	SO:0001583	missense	10769				positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr5:57751948G>A		CCDS3974.1, CCDS75250.1	5q12.1-q13.2	2013-01-18	2010-06-24		ENSG00000145632	ENSG00000145632			19699	protein-coding gene	gene with protein product	"""serum-inducible kinase"""	607023	"""polo-like kinase 2 (Drosophila)"""				Standard	NM_006622		Approved	SNK	uc003jrn.3	Q9NYY3	OTTHUMG00000097047	ENST00000274289.3:c.1289C>T	5.37:g.57751948G>A	ENSP00000274289:p.Ser430Phe					PLK2_uc021xyx.1_Missense_Mutation_p.S416F	p.S430F	NM_006622	NP_006613	Q9NYY3	PLK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)	9	1469	-		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)	430					O60679|Q96CV7|Q9UE61	Missense_Mutation	SNP	ENST00000274289.3	37	c.1289C>T	CCDS3974.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.100871	0.76983	.	.	ENSG00000145632	ENST00000274289	T	0.68479	-0.33	5.88	5.88	0.94601	.	0.364927	0.34338	N	0.004043	T	0.59824	0.2222	L	0.42245	1.32	0.48696	D	0.999698	P	0.34780	0.468	B	0.28139	0.086	T	0.60647	-0.7222	10	0.48119	T	0.1	-12.6282	18.4227	0.90597	0.0:0.0:1.0:0.0	.	430	Q9NYY3	PLK2_HUMAN	F	430	ENSP00000274289:S430F	ENSP00000274289:S430F	S	-	2	0	PLK2	57787705	1.000000	0.71417	0.819000	0.32651	0.967000	0.64934	7.031000	0.76491	2.788000	0.95919	0.650000	0.86243	TCT		0.473	PLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214150.1	NM_006622		5	79	0	0	0	1	0	5	79				
MYBBP1A	10514	broad.mit.edu	37	17	4443214	4443214	+	Silent	SNP	G	G	A			TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	g.chr17:4443214G>A	ENST00000254718.4	-	26	3789	c.3483C>T	c.(3481-3483)acC>acT	p.T1161T	MYBBP1A_ENST00000381556.2_Silent_p.T1161T			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	1161	Required for nuclear and nucleolar localization. {ECO:0000250}.				cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						TGGGGCTCTGGGTGGCACTGG	0.572																																						uc002fxz.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						c.(3481-3483)acC>acT		Homo sapiens MYB binding protein (P160) 1a (MYBBP1A), transcript variant 1, mRNA.							81.0	88.0	86.0					17																	4443214		2203	4298	6501	SO:0001819	synonymous_variant	10514				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NLS-dependent protein nuclear import complex|cytoplasm|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding	g.chr17:4443214G>A	AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"""p53-activated protein-2"""	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.3483C>T	17.37:g.4443214G>A						MYBBP1A_uc002fyb.4_Silent_p.T1161T|SPNS2_uc002fxx.2_3'UTR|SPNS2_uc002fxy.2_3'UTR|MYBBP1A_uc002fya.4_Silent_p.T106T|MYBBP1A_uc010vsa.2_Silent_p.T203T	p.T1161T	NM_001105538	NP_001099008	Q9BQG0	MBB1A_HUMAN			25	3545	-			1161			Required for nuclear and nucleolar localization (By similarity).		Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Silent	SNP	ENST00000254718.4	37	c.3483C>T	CCDS11046.1																																																																																				0.572	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	NM_014520		13	133	0	0	0	1	0	13	133				
RNF123	63891	broad.mit.edu	37	3	49724384	49724384	+	5'Flank	SNP	C	C	G			TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	g.chr3:49724384C>G	ENST00000327697.6	+	0	0				MST1_ENST00000383728.3_Missense_Mutation_p.G167R|MST1_ENST00000449682.2_Missense_Mutation_p.G242R|MST1_ENST00000545762.1_3'UTR|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000494828.2_5'UTR|RNF123_ENST00000432042.1_5'Flank	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123						protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GCGTACTTGCCCGGCTCGAAG	0.697																																						uc003cxg.3																			0				NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(724-726)Ggc>Cgc		Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) (MST1), mRNA.							11.0	13.0	13.0					3																	49724384		2083	4143	6226	SO:0001631	upstream_gene_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49724384C>G	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891		3.37:g.49724384C>G	Exception_encountered					MST1_uc011bcs.1_Splice_Site_p.G242_splice|MST1_uc010hkx.2_Missense_Mutation_p.G163R|MST1_uc011bct.1_Missense_Mutation_p.G242R|MST1_uc011bcu.1_Non-coding_Transcript|RNF123_uc003cxh.3_5'Flank	p.G242R	NM_020998	NP_066278	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	5	796	-			228			Kringle 2.		A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	ENST00000327697.6	37	c.724G>C	CCDS33758.1	.	.	.	.	.	.	.	.	.	.	C	10.63	1.403364	0.25291	.	.	ENSG00000173531	ENST00000449682;ENST00000383728	T;T	0.65178	-0.14;-0.14	5.66	-2.85	0.05734	Kringle (4);Kringle-like fold (1);	0.998820	0.08099	N	0.998119	T	0.43567	0.1253	N	0.16656	0.425	0.30802	N	0.739733	B;B;B	0.28512	0.008;0.166;0.214	B;B;B	0.32583	0.041;0.148;0.091	T	0.44390	-0.9331	10	0.30854	T	0.27	.	8.8331	0.35096	0.0:0.3603:0.1022:0.5375	.	228;228;242	B7Z538;P26927;G3XAK1	.;HGFL_HUMAN;.	R	242;167	ENSP00000414287:G242R;ENSP00000373234:G167R	ENSP00000373234:G167R	G	-	1	0	MST1	49699388	0.000000	0.05858	0.077000	0.20336	0.429000	0.31625	-0.445000	0.06845	-0.417000	0.07461	-0.218000	0.12543	GGC		0.697	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		11	20	0	0	0	1	0	11	20				
DCAF5	8816	broad.mit.edu	37	14	69522320	69522320	+	Silent	SNP	G	G	A			TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	g.chr14:69522320G>A	ENST00000341516.5	-	9	1230	c.1083C>T	c.(1081-1083)agC>agT	p.S361S	DCAF5_ENST00000557386.1_Silent_p.S360S|DCAF5_ENST00000553293.1_5'UTR|DCAF5_ENST00000554215.1_Silent_p.S279S|DCAF5_ENST00000556847.1_Silent_p.S279S	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	361					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|mitochondrion (GO:0005739)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						GCTTGTATGGGCTCCAGATCT	0.473																																						uc001xkp.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						c.(1081-1083)agC>agT		Homo sapiens DDB1 and CUL4 associated factor 5 (DCAF5), nuclear gene encoding mitochondrial protein, mRNA.							113.0	114.0	114.0					14																	69522320		2203	4300	6503	SO:0001819	synonymous_variant	8816					CUL4 RING ubiquitin ligase complex		g.chr14:69522320G>A	AB058727	CCDS32106.1, CCDS61480.1, CCDS61481.1, CCDS73646.1	14q23-q24.1	2013-01-09	2009-07-17	2009-07-17				"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20224	protein-coding gene	gene with protein product		603812	"""WD repeat domain 22"""	WDR22		9740667, 9521877	Standard	NM_003861		Approved	BCRP2, D14S1461E, BCRG2, KIAA1824	uc001xkp.3	Q96JK2		ENST00000341516.5:c.1083C>T	14.37:g.69522320G>A						DCAF5_uc001xkq.3_Silent_p.S360S	p.S361S	NM_003861	NP_003852	Q96JK2	DCAF5_HUMAN			8	1302	-			361					B2RN31|G3V4J7|O60559|Q8N3V3|Q8N3V5	Silent	SNP	ENST00000341516.5	37	c.1083C>T	CCDS32106.1																																																																																				0.473	DCAF5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414806.2	NM_003861		47	74	0	0	0	1	0	47	74				
SSPO	23145	broad.mit.edu	37	7	149494406	149494406	+	RNA	SNP	G	G	T			TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	g.chr7:149494406G>T	ENST00000378016.2	+	0	6877							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGCCCAGCCGGGGCAGCTGCT	0.662																																						uc010lpk.3																			0											c.(6868-6870)Ggg>Tgg		Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.							46.0	53.0	50.0					7																	149494406		1992	4150	6142			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149494406G>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149494406G>T							p.G2290W	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		45	6868	+	Melanoma(164;0.165)|Ovarian(565;0.177)		2293					Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37	c.6868G>T																																																																																					0.662	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				3	46	0	0	0	1	0	3	46				
CDK11A	728642	broad.mit.edu	37	1	1636450	1636450	+	Missense_Mutation	SNP	G	G	C			TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	g.chr1:1636450G>C	ENST00000378633.1	-	13	1439	c.1360C>G	c.(1360-1362)Cta>Gta	p.L454V	CDK11A_ENST00000356200.3_Missense_Mutation_p.L417V|CDK11A_ENST00000357760.2_Missense_Mutation_p.L450V|CDK11A_ENST00000358779.5_Missense_Mutation_p.L441V|CDK11A_ENST00000404249.3_Missense_Mutation_p.L451V|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000495016.1_5'Flank|CDK11A_ENST00000378638.2_Missense_Mutation_p.L417V			Q9UQ88	CD11A_HUMAN	cyclin-dependent kinase 11A	454	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						AGCCGCTTTAGAGCCACAATT	0.527																																					Pancreas(186;965 2119 30274 40311 50569)	uc009vks.3																			0				endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						c.(1351-1353)Cta>Gta		Homo sapiens cyclin-dependent kinase 11A (CDK11A), transcript variant 1, mRNA.							72.0	106.0	95.0					1																	1636450		1862	4083	5945	SO:0001583	missense	984				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr1:1636450G>C	AF067522	CCDS44042.1, CCDS44043.1	1p36.33	2011-11-08	2009-12-16	2009-12-16	ENSG00000008128	ENSG00000008128		"""Cyclin-dependent kinases"""	1730	protein-coding gene	gene with protein product		116951	"""cell division cycle 2-like 2"", ""cell division cycle 2-like 2 (PITSLRE proteins)"""	CDC2L3, CDC2L2		7920654, 9750192, 19884882	Standard	NM_033529		Approved	PITSLRE, CDK11-p110, CDK11-p58, CDK11-p46, p58GTA		Q9UQ88	OTTHUMG00000000703	ENST00000378633.1:c.1360C>G	1.37:g.1636450G>C	ENSP00000367900:p.Leu454Val					CDK11B_uc001ags.1_Intron|CDK11B_uc001agt.1_Intron|CDK11B_uc001aha.1_Intron|CDK11B_uc001agw.1_Intron|CDK11B_uc001agv.1_Intron|CDK11B_uc001agy.1_Intron|CDK11B_uc001agx.1_Intron|CDK11B_uc001agz.1_Intron|SLC35E2B_uc001ahh.4_Intron|CDK11B_uc001ahj.4_5'UTR|CDK11B_uc009vkp.3_Missense_Mutation_p.L68V|CDK11B_uc009vkq.3_Non-coding_Transcript|CDK11B_uc009vkr.3_Missense_Mutation_p.L441V|CDK11B_uc010nys.2_Missense_Mutation_p.L441V|CDK11B_uc010nyt.1_Missense_Mutation_p.L451V	p.L451V	NM_024011	NP_076916	P21127	CD11B_HUMAN			12	1459	-			466			Protein kinase.		O95227|O95228|O96012|Q12821|Q12853|Q12854|Q2TAJ0|Q5QPR0|Q5QPR1|Q5QPR2|Q9UBC4|Q9UBI3|Q9UEI1|Q9UEI2|Q9UP53|Q9UP54|Q9UP55|Q9UP56|Q9UQ86|Q9UQ87|Q9UQ89	Missense_Mutation	SNP	ENST00000378633.1	37	c.1351C>G		.	.	.	.	.	.	.	.	.	.	-	7.607	0.674066	0.14841	.	.	ENSG00000008128	ENST00000356200;ENST00000404249;ENST00000357760;ENST00000358779;ENST00000378633;ENST00000378638;ENST00000378630	T;T;T;T;T;T	0.61274	0.12;0.12;0.12;0.12;0.12;0.12	2.6	1.66	0.24008	.	0.000000	0.85682	D	0.000000	T	0.59197	0.2176	N	0.25426	0.745	0.80722	D	1	D;D;D;D;D	0.69078	0.997;0.997;0.974;0.974;0.994	D;D;D;D;D	0.76071	0.987;0.987;0.953;0.953;0.919	T	0.59069	-0.7523	10	0.87932	D	0	.	8.5687	0.33556	0.1224:0.0:0.8776:0.0	.	451;441;451;441;68	B4E0M9;B4E0N4;Q9UQ88-2;Q9UQ88-4;Q9UQ88-5	.;.;.;.;.	V	417;451;450;441;454;417;417	ENSP00000348529:L417V;ENSP00000384442:L451V;ENSP00000350403:L450V;ENSP00000351629:L441V;ENSP00000367900:L454V;ENSP00000367905:L417V	ENSP00000348529:L417V	L	-	1	2	CDK11A	1626310	0.750000	0.28316	1.000000	0.80357	0.098000	0.18820	0.712000	0.25779	0.435000	0.26365	0.531000	0.56144	CTA		0.527	CDK11A-005	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000001735.1	NM_024011		34	61	0	0	0	1	0	34	61				
DSE	29940	broad.mit.edu	37	6	116758279	116758279	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	g.chr6:116758279C>T	ENST00000331677.3	+	7	3092	c.2648C>T	c.(2647-2649)gCa>gTa	p.A883V	DSE_ENST00000537543.1_Missense_Mutation_p.A902V|DSE_ENST00000359564.2_Missense_Mutation_p.A883V|DSE_ENST00000452085.3_Missense_Mutation_p.A883V			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	883					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		TTTGGACAGGCACGGATGGTG	0.418																																						uc011ebg.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(2704-2706)gCa>gTa		Homo sapiens dermatan sulfate epimerase (DSE), transcript variant 1, mRNA.							134.0	115.0	121.0					6																	116758279		2203	4300	6503	SO:0001583	missense	29940				dermatan sulfate biosynthetic process	Golgi apparatus|endoplasmic reticulum|integral to membrane	chondroitin-glucuronate 5-epimerase activity	g.chr6:116758279C>T	AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"""squamous cell carcinoma antigen recognized by T cells 2"""	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.2648C>T	6.37:g.116758279C>T	ENSP00000332151:p.Ala883Val					DSE_uc003pws.3_Missense_Mutation_p.A883V|DSE_uc003pwt.3_Missense_Mutation_p.A883V|DSE_uc003pwu.3_Missense_Mutation_p.A550V	p.A902V	NM_013352	NP_037484	Q9UL01	DSE_HUMAN		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)	5	2804	+		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)	883					Q5R3K6	Missense_Mutation	SNP	ENST00000331677.3	37	c.2705C>T	CCDS5107.1	.	.	.	.	.	.	.	.	.	.	C	0.023	-1.405581	0.01155	.	.	ENSG00000111817	ENST00000452085;ENST00000537543;ENST00000331677;ENST00000359564	T;T;T;T	0.16897	2.32;2.31;2.32;2.32	5.94	-0.22	0.13130	.	0.438786	0.26153	N	0.026035	T	0.01835	0.0058	N	0.12182	0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.44498	-0.9324	10	0.28530	T	0.3	0.2808	2.5329	0.04707	0.1196:0.5118:0.1159:0.2527	.	902;883	B7Z765;Q9UL01	.;DSE_HUMAN	V	883;902;883;883	ENSP00000404049:A883V;ENSP00000441152:A902V;ENSP00000332151:A883V;ENSP00000352567:A883V	ENSP00000332151:A883V	A	+	2	0	DSE	116864972	0.653000	0.27358	0.007000	0.13788	0.029000	0.11900	1.182000	0.32029	-0.357000	0.08175	-0.142000	0.14014	GCA		0.418	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041940.2	NM_013352		37	56	0	0	0	1	0	37	56				
GALNT7	51809	broad.mit.edu	37	4	174169178	174169178	+	Silent	SNP	A	A	G			TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	g.chr4:174169178A>G	ENST00000265000.4	+	2	257	c.174A>G	c.(172-174)ggA>ggG	p.G58G	GALNT7_ENST00000512285.1_Silent_p.G58G	NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	polypeptide N-acetylgalactosaminyltransferase 7	58					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		GCGGCAATGGACTAGCTCCTG	0.478																																						uc003isz.4																			0				central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19						c.(172-174)ggA>ggG		Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7) (GALNT7), mRNA.							73.0	69.0	70.0					4																	174169178		2203	4300	6503	SO:0001819	synonymous_variant	51809				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr4:174169178A>G	AJ002744	CCDS3815.1	4q31.1	2014-03-13	2014-03-13		ENSG00000109586	ENSG00000109586		"""Glycosyltransferase family 2 domain containing"""	4129	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 7"""	605005	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)"""			10544240	Standard	NM_017423		Approved	GALNAC-T7	uc003isz.4	Q86SF2	OTTHUMG00000160817	ENST00000265000.4:c.174A>G	4.37:g.174169178A>G							p.G58G	NM_017423	NP_059119	Q86SF2	GALT7_HUMAN		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)	1	257	+		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)	58					B3KQU3|Q7Z5W7|Q9UJ28	Silent	SNP	ENST00000265000.4	37	c.174A>G	CCDS3815.1																																																																																				0.478	GALNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362456.2	NM_017423		5	73	0	0	0	1	0	5	73				
TBC1D2	55357	broad.mit.edu	37	9	100961815	100961815	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	g.chr9:100961815G>A	ENST00000375066.5	-	13	2693	c.2602C>T	c.(2602-2604)Cgg>Tgg	p.R868W	TBC1D2_ENST00000342112.5_Missense_Mutation_p.R661W|TBC1D2_ENST00000375064.1_3'UTR|TBC1D2_ENST00000375063.1_Missense_Mutation_p.R419W	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	879					positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)	p.R868W(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CGCAGCTGCCGCAGCTGTTTC	0.637																																						uc011lvb.2																			1	Substitution - Missense(1)	p.R868W(1)	large_intestine(1)	breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(2635-2637)Cgg>Tgg		Homo sapiens TBC1 domain family, member 2 (TBC1D2), mRNA.							134.0	139.0	137.0					9																	100961815		2203	4299	6502	SO:0001583	missense	55357					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	g.chr9:100961815G>A	AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"""prostate antigen recognized and identified by SEREX"""	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375066.5:c.2602C>T	9.37:g.100961815G>A	ENSP00000364207:p.Arg868Trp					TBC1D2_uc004ayp.3_Missense_Mutation_p.R419W|TBC1D2_uc004ayq.3_Missense_Mutation_p.R868W|TBC1D2_uc004ayr.3_Missense_Mutation_p.R661W	p.R879W	NM_018421	NP_060891	Q9BYX2	TBD2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)	12	2815	-		Myeloproliferative disorder(762;0.0255)	879					B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Missense_Mutation	SNP	ENST00000375066.5	37	c.2635C>T	CCDS35080.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.300297	0.60195	.	.	ENSG00000095383	ENST00000375066;ENST00000342112;ENST00000375063	T;T;T	0.09911	2.93;3.38;3.01	5.51	3.51	0.40186	.	0.272292	0.34603	N	0.003838	T	0.13372	0.0324	M	0.76328	2.33	0.30554	N	0.765152	B;P	0.35982	0.396;0.531	B;B	0.31495	0.062;0.131	T	0.09335	-1.0679	10	0.87932	D	0	.	10.2646	0.43447	0.0824:0.0:0.757:0.1607	.	879;868	Q9BYX2;Q9BYX2-2	TBD2A_HUMAN;.	W	868;661;419	ENSP00000364207:R868W;ENSP00000341567:R661W;ENSP00000364203:R419W	ENSP00000341567:R661W	R	-	1	2	TBC1D2	100001636	0.025000	0.19082	0.986000	0.45419	0.658000	0.38924	0.841000	0.27613	1.330000	0.45394	0.511000	0.50034	CGG		0.637	TBC1D2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053367.1	NM_018421		7	151	0	0	0	1	0	7	151				
