#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
STT3A	3703	broad.mit.edu	37	11	125479386	125479386	+	Missense_Mutation	SNP	A	A	C			TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr11:125479386A>C	ENST00000529196.1	+	11	1225	c.1019A>C	c.(1018-1020)aAg>aCg	p.K340T	STT3A_ENST00000392708.4_Missense_Mutation_p.K340T|STT3A_ENST00000531491.1_Missense_Mutation_p.K248T			P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	340					cellular protein metabolic process (GO:0044267)|co-translational protein modification (GO:0043686)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		TCTTATGCTAAGAACAACATC	0.473																																						uc001qcd.2																			0				NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33						c.(1018-1020)aAg>aCg		Homo sapiens STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae) (STT3A), mRNA.							224.0	203.0	210.0					11																	125479386		2201	4299	6500	SO:0001583	missense	3703				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity	g.chr11:125479386A>C	BC020965	CCDS8458.1, CCDS60998.1	11q23.3	2013-03-06	2013-03-06	2006-02-07	ENSG00000134910	ENSG00000134910	2.4.99.18		6172	protein-coding gene	gene with protein product	"""dolichyl-diphosphooligosaccharide protein glycotransferase"""	601134	"""integral membrane protein 1"", ""STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae)"", ""STT3A, cataylic subunit of the oligosaccharyltransferase complex"""	ITM1		8941377, 8634329, 10234787	Standard	NM_152713		Approved	TMC, MGC9042, STT3-A	uc001qcd.2	P46977	OTTHUMG00000165852	ENST00000529196.1:c.1019A>C	11.37:g.125479386A>C	ENSP00000436962:p.Lys340Thr		Somatic				STT3A_uc009zbm.2_Missense_Mutation_p.K340T|STT3A_uc001qce.2_Missense_Mutation_p.K340T|STT3A_uc010sbg.1_Missense_Mutation_p.K248T|STT3A_uc009zbn.2_Intron	p.K340T	NM_152713	NP_689926	WXS	Illumina GAIIx	Phase_I	P46977	STT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)	9	1129	+	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)	340					B4DJ24|E9PNQ1|Q86XU9|Q8TE35|Q8WUB4	Missense_Mutation	SNP	ENST00000529196.1	37	c.1019A>C	CCDS8458.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.1|24.1	4.495993|4.495993	0.85069|0.85069	.|.	.|.	ENSG00000134910|ENSG00000134910	ENST00000392708;ENST00000529196;ENST00000531491|ENST00000526726	.|.	.|.	.|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	0.046833|.	0.85682|.	D|.	0.000000|.	T|.	0.78691|.	0.4323|.	M|M	0.85099|0.85099	2.735|2.735	0.80722|0.80722	D|D	1|1	D;D|.	0.67145|.	0.996;0.992|.	D;D|.	0.66351|.	0.943;0.943|.	T|.	0.81342|.	-0.0976|.	9|.	0.37606|.	T|.	0.19|.	-14.1906|-14.1906	15.1066|15.1066	0.72326|0.72326	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	248;340|.	E9PNQ1;P46977|.	.;STT3A_HUMAN|.	T|Y	340;340;248|82	.|.	ENSP00000376472:K340T|.	K|X	+|+	2|3	0|2	STT3A|STT3A	124984596|124984596	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.909000|0.909000	0.53808|0.53808	9.339000|9.339000	0.96797|0.96797	2.052000|2.052000	0.61016|0.61016	0.372000|0.372000	0.22366|0.22366	AAG|TAA		0.473	STT3A-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386691.1	NM_152713		38	97	0	0	0	1	0	38	97				
HSPH1	10808	broad.mit.edu	37	13	31725226	31725226	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr13:31725226C>A	ENST00000320027.5	-	7	1110	c.766G>T	c.(766-768)Gca>Tca	p.A256S	HSPH1_ENST00000445273.2_Missense_Mutation_p.A258S|HSPH1_ENST00000380405.4_Missense_Mutation_p.A256S|HSPH1_ENST00000429785.2_Missense_Mutation_p.A75S|HSPH1_ENST00000380406.5_Missense_Mutation_p.A215S	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	256					chaperone mediated protein folding requiring cofactor (GO:0051085)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of NK T cell activation (GO:0051135)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		TTGGATTTTGCATCCAACTTG	0.373																																						uc001utl.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27						c.(772-774)Gca>Tca		Homo sapiens heat shock 105kDa/110kDa protein 1 (HSPH1), mRNA.							134.0	127.0	129.0					13																	31725226		2203	4299	6502	SO:0001583	missense	10808				positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding	g.chr13:31725226C>A	AB003333	CCDS9340.1, CCDS66525.1, CCDS73559.1	13q12.2-q13.3	2011-09-02			ENSG00000120694	ENSG00000120694		"""Heat shock proteins / HSP70"""	16969	protein-coding gene	gene with protein product		610703				9610721, 9931472	Standard	XM_005266236		Approved	HSP105B, KIAA0201, HSP105A, NY-CO-25	uc001utj.3	Q92598	OTTHUMG00000016685	ENST00000320027.5:c.766G>T	13.37:g.31725226C>A	ENSP00000318687:p.Ala256Ser		Somatic				HSPH1_uc001utj.3_Missense_Mutation_p.A256S|HSPH1_uc001utk.3_Missense_Mutation_p.A256S|HSPH1_uc010aaw.3_Missense_Mutation_p.A215S|HSPH1_uc010tds.2_Missense_Mutation_p.A180S|HSPH1_uc010tdt.1_Non-coding_Transcript	p.A258S	NM_006644	NP_006635	WXS	Illumina GAIIx	Phase_I	Q92598	HS105_HUMAN		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)	6	1043	-		Lung SC(185;0.0257)	256					B4DYH1|O95739|Q5TBM6|Q5TBM7|Q5TBM8|Q9UPC4	Missense_Mutation	SNP	ENST00000320027.5	37	c.772G>T	CCDS9340.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.246741	0.39697	.	.	ENSG00000120694	ENST00000320027;ENST00000380405;ENST00000380406;ENST00000445273;ENST00000429785;ENST00000438061	T;T;T;T;T	0.01025	5.43;5.43;5.43;5.43;5.43	5.68	2.87	0.33458	.	0.403347	0.25535	N	0.030016	T	0.01156	0.0038	L	0.28556	0.865	0.35630	D	0.810169	B;B;B;B;B	0.30973	0.172;0.128;0.302;0.039;0.146	B;B;B;B;B	0.36959	0.232;0.237;0.155;0.127;0.099	T	0.58657	-0.7598	10	0.72032	D	0.01	-17.0601	8.9284	0.35655	0.0:0.6633:0.1844:0.1524	.	75;215;258;256;256	B4DY72;Q92598-3;B4DYH1;Q92598-2;Q92598	.;.;.;.;HS105_HUMAN	S	256;256;215;258;75;307	ENSP00000318687:A256S;ENSP00000369768:A256S;ENSP00000369769:A215S;ENSP00000396090:A258S;ENSP00000388778:A75S	ENSP00000318687:A256S	A	-	1	0	HSPH1	30623226	1.000000	0.71417	1.000000	0.80357	0.029000	0.11900	2.617000	0.46385	0.875000	0.35847	-0.218000	0.12543	GCA		0.373	HSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044384.1			25	48	0	0	0	1	0	25	48				
SIPA1L2	57568	broad.mit.edu	37	1	232629364	232629364	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr1:232629364A>G	ENST00000366630.1	-	3	1884	c.1526T>C	c.(1525-1527)gTa>gCa	p.V509A	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.V509A|SIPA1L2_ENST00000486472.1_5'UTR			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	509					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GCTGACTGCTACTGGACCAAG	0.458																																						uc001hvg.3																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103						c.(1525-1527)gTa>gCa		Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.							234.0	233.0	233.0					1																	232629364		1942	4148	6090	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232629364A>G	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.1526T>C	1.37:g.232629364A>G	ENSP00000355589:p.Val509Ala		Somatic					p.V509A	NM_020808	NP_065859	WXS	Illumina GAIIx	Phase_I	Q9P2F8	SI1L2_HUMAN			1	1684	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	509					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.1526T>C	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	A	28.4	4.916630	0.92249	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	T;T	0.72942	-0.7;-0.7	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.85217	0.5646	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87444	0.2397	10	0.87932	D	0	-30.456	15.8615	0.79026	1.0:0.0:0.0:0.0	.	509	Q9P2F8	SI1L2_HUMAN	A	509	ENSP00000355589:V509A;ENSP00000262861:V509A	ENSP00000262861:V509A	V	-	2	0	SIPA1L2	230695987	1.000000	0.71417	0.998000	0.56505	0.917000	0.54804	9.131000	0.94446	2.333000	0.79357	0.533000	0.62120	GTA		0.458	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		5	304	0	0	0	1	0	5	304				
CAPNS1	826	broad.mit.edu	37	19	36637183	36637183	+	Silent	SNP	C	C	A			TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr19:36637183C>A	ENST00000246533.3	+	9	1288	c.690C>A	c.(688-690)atC>atA	p.I230I	CAPNS1_ENST00000588815.1_Silent_p.I230I|AD001527.7_ENST00000604228.1_RNA|CAPNS1_ENST00000587718.1_Silent_p.I230I|CAPNS1_ENST00000590874.1_Silent_p.I200I|CAPNS1_ENST00000588780.1_Silent_p.I240I|CAPNS1_ENST00000589146.1_Silent_p.I56I	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	230	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ACAACTTCATCAGCTGCTTGG	0.493																																					Esophageal Squamous(129;1541 1691 5780 18353 34150)	uc002odi.1																			0				cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(688-690)atC>atA		Homo sapiens calpain, small subunit 1 (CAPNS1), transcript variant 1, mRNA.							238.0	224.0	229.0					19																	36637183		2203	4300	6503	SO:0001819	synonymous_variant	826				positive regulation of cell proliferation	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr19:36637183C>A	X04106	CCDS12489.1	19q13.1	2013-01-10		2001-08-10	ENSG00000126247	ENSG00000126247	3.4.22.52	"""EF-hand domain containing"""	1481	protein-coding gene	gene with protein product		114170		CAPN4		3024120, 3016651	Standard	NM_001003962		Approved	CANP, CANPS, 30K, CDPS	uc002odj.3	P04632		ENST00000246533.3:c.690C>A	19.37:g.36637183C>A			Somatic				CAPNS1_uc002odk.3_Silent_p.I230I|CAPNS1_uc002odj.3_Silent_p.I230I|CAPNS1_uc002odl.3_Silent_p.I230I	p.I230I	NM_001749	NP_001740	WXS	Illumina GAIIx	Phase_I	P04632	CPNS1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		8	847	+	Esophageal squamous(110;0.162)		230			EF-hand 4.		A8K0P1|Q8WTX3|Q96EW0	Silent	SNP	ENST00000246533.3	37	c.690C>A	CCDS12489.1																																																																																				0.493	CAPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457411.2			91	136	0	0	0	1	0	91	136				
ZC3H18	124245	broad.mit.edu	37	16	88675418	88675418	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr16:88675418A>G	ENST00000301011.5	+	7	1365	c.1165A>G	c.(1165-1167)Agg>Ggg	p.R389G	ZC3H18_ENST00000452588.2_Missense_Mutation_p.R413G	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	389						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		TGAGAATTTCAGGGTGCAGTA	0.408																																					Ovarian(121;375 2276 20373 38669)	uc010voz.2																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1237-1239)Agg>Ggg		Homo sapiens zinc finger CCCH-type containing 18 (ZC3H18), mRNA.							136.0	126.0	130.0					16																	88675418		2198	4300	6498	SO:0001583	missense	124245					nucleus	nucleic acid binding|zinc ion binding	g.chr16:88675418A>G	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.1165A>G	16.37:g.88675418A>G	ENSP00000301011:p.Arg389Gly		Somatic				ZC3H18_uc021tmm.1_Missense_Mutation_p.R413G|ZC3H18_uc010voy.1_Missense_Mutation_p.R272G|ZC3H18_uc002fky.3_Missense_Mutation_p.R389G|ZC3H18_uc010chw.3_5'Flank	p.R413G	NM_144604	NP_653205	WXS	Illumina GAIIx	Phase_I	Q86VM9	ZCH18_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0542)	7	1437	+			389					Q96DG4|Q96MP7	Missense_Mutation	SNP	ENST00000301011.5	37	c.1237A>G	CCDS10967.1	.	.	.	.	.	.	.	.	.	.	A	15.30	2.792308	0.50102	.	.	ENSG00000158545	ENST00000301011;ENST00000289509;ENST00000452588;ENST00000545404	T;T	0.37752	1.22;1.18	5.41	1.83	0.25207	.	0.000000	0.85682	D	0.000000	T	0.55481	0.1923	M	0.66939	2.045	0.58432	D	0.999994	D;D;D	0.89917	1.0;0.996;1.0	D;D;D	0.83275	0.996;0.99;0.996	T	0.54173	-0.8333	10	0.54805	T	0.06	-30.0361	13.302	0.60330	0.5738:0.4262:0.0:0.0	.	413;413;389	E7ERS3;B4DTK7;Q86VM9	.;.;ZCH18_HUMAN	G	389;413;413;272	ENSP00000301011:R389G;ENSP00000416951:R413G	ENSP00000289509:R413G	R	+	1	2	ZC3H18	87202919	1.000000	0.71417	0.999000	0.59377	0.819000	0.46315	1.013000	0.29937	0.036000	0.15547	0.459000	0.35465	AGG		0.408	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604		3	91	0	0	0	1	0	3	91				
HBS1L	10767	broad.mit.edu	37	6	135314952	135314952	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr6:135314952T>C	ENST00000367837.5	-	8	1233	c.1027A>G	c.(1027-1029)Atg>Gtg	p.M343V	HBS1L_ENST00000445176.2_Missense_Mutation_p.M67V|HBS1L_ENST00000367824.4_Missense_Mutation_p.M179V|HBS1L_ENST00000415177.2_Missense_Mutation_p.M278V|HBS1L_ENST00000527578.1_Missense_Mutation_p.M179V|HBS1L_ENST00000367826.2_Missense_Mutation_p.M301V	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase	343	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				signal transduction (GO:0007165)|translation (GO:0006412)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		GGAGCATCCATTAATGTAATA	0.373																																						uc003qez.2																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20						c.(1027-1029)Atg>Gtg		Homo sapiens HBS1-like (S. cerevisiae) (HBS1L), transcript variant 1, mRNA.							151.0	134.0	140.0					6																	135314952		2203	4300	6503	SO:0001583	missense	10767				signal transduction		GTP binding|GTPase activity|translation elongation factor activity	g.chr6:135314952T>C	U87791	CCDS5173.1, CCDS47479.1, CCDS47480.1	6q23.3	2014-04-30	2014-04-30		ENSG00000112339	ENSG00000112339			4834	protein-coding gene	gene with protein product	"""eRF3 family member"""	612450	"""HBS1 (S. cerevisiae)-like"", ""HBS1-like (S. cerevisiae)"""			9872408, 23667253	Standard	NM_006620		Approved	ERFS, HBS1, HSPC276, KIAA1038, DKFZp434g247, EF-1a, eRF3c	uc003qez.2	Q9Y450	OTTHUMG00000015626	ENST00000367837.5:c.1027A>G	6.37:g.135314952T>C	ENSP00000356811:p.Met343Val		Somatic				HBS1L_uc003qey.2_Missense_Mutation_p.M179V|HBS1L_uc011ecy.1_Missense_Mutation_p.M67V|HBS1L_uc011ecz.1_Missense_Mutation_p.M179V|HBS1L_uc011eda.1_Missense_Mutation_p.M301V	p.M343V	NM_006620	NP_006611	WXS	Illumina GAIIx	Phase_I	Q9Y450	HBS1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)	7	1234	-	Colorectal(23;0.221)		343					B7Z365|Q4VX89|Q4VX90|Q5T7G3|Q8NDW9|Q9UPW3	Missense_Mutation	SNP	ENST00000367837.5	37	c.1027A>G	CCDS5173.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.730127	0.89390	.	.	ENSG00000112339	ENST00000367837;ENST00000527578;ENST00000415177;ENST00000367826;ENST00000367824;ENST00000533274;ENST00000445176;ENST00000529641	T;T;T;T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1	6.07	6.07	0.98685	Protein synthesis factor, GTP-binding (2);	0.000000	0.85682	D	0.000000	T	0.36358	0.0964	N	0.01081	-1.03	0.80722	D	1	P;P	0.48764	0.915;0.883	P;P	0.53102	0.596;0.718	T	0.65010	-0.6272	10	0.72032	D	0.01	-31.7414	16.6407	0.85098	0.0:0.0:0.0:1.0	.	301;343	Q9Y450-4;Q9Y450	.;HBS1L_HUMAN	V	343;179;278;301;179;213;67;179	ENSP00000356811:M343V;ENSP00000436256:M179V;ENSP00000389826:M278V;ENSP00000356800:M301V;ENSP00000356798:M179V;ENSP00000434533:M213V;ENSP00000415305:M67V;ENSP00000436620:M179V	ENSP00000356798:M179V	M	-	1	0	HBS1L	135356645	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.326000	0.78906	0.533000	0.62120	ATG		0.373	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042339.2			4	34	0	0	0	1	0	4	34				
DNAJB11	51726	broad.mit.edu	37	3	186299235	186299235	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr3:186299235A>G	ENST00000439351.1	+	6	1461	c.532A>G	c.(532-534)Acc>Gcc	p.T178A	DNAJB11_ENST00000265028.3_Missense_Mutation_p.T178A			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	178					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|mRNA modification (GO:0016556)|protein folding (GO:0006457)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		GATGCGGACCACCCAGCTGGG	0.517																																						uc003fqi.3																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15						c.(532-534)Acc>Gcc		Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 11 (DNAJB11), mRNA.							90.0	89.0	89.0					3																	186299235		2203	4300	6503	SO:0001583	missense	51726				protein folding	endoplasmic reticulum lumen	heat shock protein binding	g.chr3:186299235A>G	AB028859	CCDS3277.1	3q27	2011-09-02			ENSG00000090520	ENSG00000090520		"""Heat shock proteins / DNAJ (HSP40)"""	14889	protein-coding gene	gene with protein product		611341				10827079, 11147971	Standard	NM_016306		Approved	EDJ, HEDJ, ERdj3	uc003fqi.3	Q9UBS4	OTTHUMG00000156614	ENST00000439351.1:c.532A>G	3.37:g.186299235A>G	ENSP00000414398:p.Thr178Ala		Somatic					p.T178A	NM_016306	NP_057390	WXS	Illumina GAIIx	Phase_I	Q9UBS4	DJB11_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)	4	1267	+	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		178					Q542Y5|Q542Y9|Q6IAQ8|Q96JC6	Missense_Mutation	SNP	ENST00000439351.1	37	c.532A>G	CCDS3277.1	.	.	.	.	.	.	.	.	.	.	A	19.55	3.848335	0.71603	.	.	ENSG00000090520	ENST00000439351;ENST00000265028	T;T	0.68181	-0.31;-0.31	5.85	5.85	0.93711	HSP40/DnaJ peptide-binding (1);	0.000000	0.85682	D	0.000000	T	0.57799	0.2078	L	0.41356	1.27	0.80722	D	1	B	0.22211	0.066	B	0.22753	0.041	T	0.53337	-0.8453	10	0.23302	T	0.38	-15.6416	14.1896	0.65630	1.0:0.0:0.0:0.0	.	178	Q9UBS4	DJB11_HUMAN	A	178	ENSP00000414398:T178A;ENSP00000265028:T178A	ENSP00000265028:T178A	T	+	1	0	DNAJB11	187781929	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.222000	0.72286	0.533000	0.62120	ACC		0.517	DNAJB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344779.1			33	65	0	0	0	1	0	33	65				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	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		18	47	0	0	0	1	0	18	47				
GUCA2B	2981	broad.mit.edu	37	1	42620417	42620417	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr1:42620417C>A	ENST00000372581.1	+	2	187	c.157C>A	c.(157-159)Ccc>Acc	p.P53T		NM_007102.2	NP_009033.1	Q16661	GUC2B_HUMAN	guanylate cyclase activator 2B (uroguanylin)	53					body fluid secretion (GO:0007589)|cGMP biosynthetic process (GO:0006182)|excretion (GO:0007588)|negative regulation of blood pressure (GO:0045776)|positive regulation of guanylate cyclase activity (GO:0031284)	extracellular vesicular exosome (GO:0070062)	calcium sensitive guanylate cyclase activator activity (GO:0008048)			breast(1)|large_intestine(2)	3	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ACAGTGGGCACCCAGCCCCCG	0.647																																						uc001chc.1																			0				breast(1)|large_intestine(2)	3						c.(157-159)Ccc>Acc		Homo sapiens guanylate cyclase activator 2B (uroguanylin) (GUCA2B), mRNA.							45.0	47.0	47.0					1																	42620417		2203	4300	6503	SO:0001583	missense	2981				excretion	extracellular region	calcium sensitive guanylate cyclase activator activity	g.chr1:42620417C>A	BC069301	CCDS464.1	1p34-p33	2014-01-30			ENSG00000044012	ENSG00000044012		"""Endogenous ligands"""	4683	protein-coding gene	gene with protein product	"""prepro-uroguanylin"""	601271				8605041, 9268639	Standard	NM_007102		Approved		uc001chc.1	Q16661	OTTHUMG00000007024	ENST00000372581.1:c.157C>A	1.37:g.42620417C>A	ENSP00000361662:p.Pro53Thr		Somatic					p.P53T	NM_007102	NP_009033	WXS	Illumina GAIIx	Phase_I	Q16661	GUC2B_HUMAN			1	187	+	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	53					Q52LV0	Missense_Mutation	SNP	ENST00000372581.1	37	c.157C>A	CCDS464.1	.	.	.	.	.	.	.	.	.	.	C	7.001	0.554967	0.13436	.	.	ENSG00000044012	ENST00000372581	T	0.42513	0.97	4.78	-0.559	0.11792	.	1.516060	0.03689	N	0.246748	T	0.38506	0.1043	L	0.55743	1.74	0.09310	N	1	B	0.14012	0.009	B	0.16289	0.015	T	0.23119	-1.0197	10	0.29301	T	0.29	-3.1305	7.9929	0.30250	0.0:0.4685:0.0:0.5315	.	53	Q16661	GUC2B_HUMAN	T	53	ENSP00000361662:P53T	ENSP00000361662:P53T	P	+	1	0	GUCA2B	42393004	0.000000	0.05858	0.001000	0.08648	0.019000	0.09904	0.004000	0.13106	-0.005000	0.14395	-0.192000	0.12808	CCC		0.647	GUCA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000018307.1	NM_007102		16	34	0	0	0	1	0	16	34				
FCGBP	8857	broad.mit.edu	37	19	40364079	40364079	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr19:40364079G>A	ENST00000221347.6	-	31	14570	c.14563C>T	c.(14563-14565)Cgc>Tgc	p.R4855C		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4855	VWFD 12. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCCAGGCAGCGGCCACAGCCT	0.642																																						uc002omp.4																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(14563-14565)Cgc>Tgc		Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.							51.0	50.0	50.0					19																	40364079		2203	4300	6503	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40364079G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.14563C>T	19.37:g.40364079G>A	ENSP00000221347:p.Arg4855Cys		Somatic					p.R4855C	NM_003890	NP_003881	WXS	Illumina GAIIx	Phase_I	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		30	14571	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4855			VWFD 12.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.14563C>T	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	13.91	2.376895	0.42105	.	.	ENSG00000090920	ENST00000221347	T	0.20332	2.08	5.04	3.98	0.46160	von Willebrand factor, type D domain (2);	0.375020	0.21508	U	0.073405	T	0.37517	0.1006	M	0.67397	2.05	0.39833	D	0.973006	D	0.89917	1.0	D	0.66351	0.943	T	0.18555	-1.0333	10	0.48119	T	0.1	.	6.9341	0.24457	0.0854:0.0:0.6458:0.2688	.	4855	Q9Y6R7	FCGBP_HUMAN	C	4855	ENSP00000221347:R4855C	ENSP00000221347:R4855C	R	-	1	0	FCGBP	45055919	0.001000	0.12720	0.812000	0.32479	0.108000	0.19459	1.037000	0.30241	1.240000	0.43803	0.313000	0.20887	CGC		0.642	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		24	33	0	0	0	1	0	24	33				
F7	2155	broad.mit.edu	37	13	113768272	113768272	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr13:113768272C>T	ENST00000375581.3	+	5	463	c.428C>T	c.(427-429)aCg>aTg	p.T143M	F7_ENST00000473085.1_3'UTR|F7_ENST00000346342.3_Missense_Mutation_p.T121M|F7_ENST00000541084.1_Missense_Mutation_p.T74M	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	143					blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|cellular protein metabolic process (GO:0044267)|circadian rhythm (GO:0007623)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell migration (GO:0030335)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of platelet-derived growth factor receptor signaling pathway (GO:0010641)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to growth hormone (GO:0060416)|response to vitamin K (GO:0032571)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	AACTGTGAGACGCGTAAGGCC	0.632																																						uc001vsv.3																			0				large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(427-429)aCg>aTg		Homo sapiens coagulation factor VII (serum prothrombin conversion accelerator) (F7), transcript variant 1, mRNA.	Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)						54.0	53.0	54.0					13																	113768272		2203	4300	6503	SO:0001583	missense	2155				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity	g.chr13:113768272C>T		CCDS9528.1, CCDS9529.1, CCDS73602.1	13q34	2014-02-03			ENSG00000057593	ENSG00000057593	3.4.21.21		3544	protein-coding gene	gene with protein product	"""eptacog alfa"", ""FVII coagulation protein"", ""factor VII"""	613878				3264725, 2511201	Standard	NM_000131		Approved		uc001vsv.4	P08709	OTTHUMG00000017373	ENST00000375581.3:c.428C>T	13.37:g.113768272C>T	ENSP00000364731:p.Thr143Met		Somatic				F7_uc010agp.1_Missense_Mutation_p.T136M|F7_uc001vsw.3_Missense_Mutation_p.T121M|F7_uc010tjt.2_Missense_Mutation_p.T74M	p.T143M	NM_000131	NP_000122	WXS	Illumina GAIIx	Phase_I	P08709	FA7_HUMAN	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		4	479	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	143					B0YJC8|Q14339|Q5JVF1|Q5JVF2|Q9UD52|Q9UD53|Q9UD54	Missense_Mutation	SNP	ENST00000375581.3	37	c.428C>T	CCDS9528.1	.	.	.	.	.	.	.	.	.	.	C	4.578	0.107327	0.08780	.	.	ENSG00000057593	ENST00000346342;ENST00000541084;ENST00000375581	D;D;D	0.99445	-5.91;-2.11;-5.91	4.67	-7.26	0.01466	.	0.663946	0.15011	N	0.285530	D	0.98682	0.9558	M	0.80847	2.515	0.33896	D	0.637871	D;P;D;D	0.67145	0.971;0.951;0.994;0.996	P;P;P;P	0.54238	0.746;0.561;0.708;0.514	D	0.99035	1.0822	10	0.32370	T	0.25	.	7.2659	0.26229	0.4588:0.2782:0.0:0.2631	.	74;74;121;143	F5H8B0;B4DPM2;P08709-2;P08709	.;.;.;FA7_HUMAN	M	121;74;143	ENSP00000329546:T121M;ENSP00000442051:T74M;ENSP00000364731:T143M	ENSP00000329546:T121M	T	+	2	0	F7	112816273	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.481000	0.06552	-2.293000	0.00664	-3.528000	0.00032	ACG		0.632	F7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045838.4	NM_000131		12	44	0	0	0	1	0	12	44				
NCOA3	8202	broad.mit.edu	37	20	46262900	46262900	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr20:46262900A>G	ENST00000371998.3	+	10	1264	c.1073A>G	c.(1072-1074)aAt>aGt	p.N358S	NCOA3_ENST00000341724.6_Missense_Mutation_p.N368S|NCOA3_ENST00000372004.3_Missense_Mutation_p.N358S|NCOA3_ENST00000371997.3_Missense_Mutation_p.N368S			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	358					androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CCTGTAACAAATGATCGACAT	0.398																																						uc002xtk.3																			0				breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(1072-1074)aAt>aGt		Homo sapiens nuclear receptor coactivator 3 (NCOA3), transcript variant 1, mRNA.							175.0	149.0	158.0					20																	46262900		2203	4300	6503	SO:0001583	missense	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46262900A>G	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.1073A>G	20.37:g.46262900A>G	ENSP00000361066:p.Asn358Ser		Somatic				NCOA3_uc002xtl.3_Missense_Mutation_p.N358S|NCOA3_uc002xtn.3_Missense_Mutation_p.N358S|NCOA3_uc010ght.2_Missense_Mutation_p.N368S|NCOA3_uc002xtm.3_Missense_Mutation_p.N358S|NCOA3_uc010zyc.2_Missense_Mutation_p.N153S	p.N358S	NM_181659	NP_858045	WXS	Illumina GAIIx	Phase_I	Q9Y6Q9	NCOA3_HUMAN			9	1334	+			358					A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Missense_Mutation	SNP	ENST00000371998.3	37	c.1073A>G	CCDS13407.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.180790	0.78677	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997;ENST00000542882	T;T;T;T	0.16457	2.34;2.34;2.34;2.34	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.36880	0.0983	L	0.51422	1.61	0.53688	D	0.999976	P;D;P;P;P;P	0.89917	0.784;1.0;0.784;0.784;0.863;0.784	P;D;P;P;P;P	0.87578	0.54;0.998;0.54;0.54;0.729;0.54	T	0.02567	-1.1140	10	0.40728	T	0.16	-27.8389	16.0663	0.80878	1.0:0.0:0.0:0.0	.	358;368;362;358;358;358	A8K0W8;Q9Y6Q9-3;Q59EE8;Q0IIN7;Q9Y6Q9-5;Q9Y6Q9	.;.;.;.;.;NCOA3_HUMAN	S	358;368;358;358;368;124	ENSP00000342123:N368S;ENSP00000361073:N358S;ENSP00000361066:N358S;ENSP00000361065:N368S	ENSP00000345671:N358S	N	+	2	0	NCOA3	45696307	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	6.292000	0.72725	2.201000	0.70794	0.533000	0.62120	AAT		0.398	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		23	74	0	0	0	1	0	23	74				
NTMT1	28989	broad.mit.edu	37	9	132397704	132397704	+	Silent	SNP	C	C	G	rs151072869		TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr9:132397704C>G	ENST00000372486.1	+	4	982	c.633C>G	c.(631-633)ccC>ccG	p.P211P	NTMT1_ENST00000372483.4_Silent_p.P211P|NTMT1_ENST00000372481.3_3'UTR|NTMT1_ENST00000372480.1_Silent_p.P211P|NTMT1_ENST00000482347.1_Silent_p.P123P			Q9BV86	NTM1A_HUMAN	N-terminal Xaa-Pro-Lys N-methyltransferase 1	211					chromosome segregation (GO:0007059)|N-terminal peptidyl-proline dimethylation (GO:0018016)|N-terminal peptidyl-serine dimethylation (GO:0035572)|N-terminal peptidyl-serine trimethylation (GO:0035573)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein methyltransferase activity (GO:0008276)										AGAACCTCCCCGATGAGATCT	0.627																																						uc004byd.1																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	7						c.(631-633)ccC>ccG		Homo sapiens methyltransferase like 11A (METTL11A), mRNA.																																				SO:0001819	synonymous_variant	28989				N-terminal peptidyl-proline dimethylation|N-terminal peptidyl-serine dimethylation|N-terminal peptidyl-serine trimethylation|chromosome segregation|spindle organization	nucleus	protein binding|protein methyltransferase activity	g.chr9:132397704C>G	AF110776	CCDS35160.1, CCDS69682.1, CCDS75918.1	9q34.2	2012-11-05	2012-06-12	2012-06-12	ENSG00000148335	ENSG00000148335	2.1.1.n5		23373	protein-coding gene	gene with protein product		613560	"""chromosome 9 open reading frame 32"", ""methyltransferase like 11A"""	C9orf32, METTL11A		20481588	Standard	XM_005251939		Approved	AD-003, HOMT1A	uc004byd.1	Q9BV86	OTTHUMG00000020785	ENST00000372486.1:c.633C>G	9.37:g.132397704C>G			Somatic				METTL11A_uc011mbs.1_3'UTR|METTL11A_uc010myw.1_Non-coding_Transcript|ASB6_uc004bye.1_3'UTR|ASB6_uc004byf.2_3'UTR|ASB6_uc010myx.2_3'UTR|ASB6_uc004byg.2_3'UTR|ASB6_uc011mbt.2_3'UTR	p.P211P	NM_014064	NP_054783	WXS	Illumina GAIIx	Phase_I	Q9BV86	NTM1A_HUMAN			3	827	+			211					A8K4J2|A8K8G7|Q5SZB9|Q9UI28	Silent	SNP	ENST00000372486.1	37	c.633C>G	CCDS35160.1																																																																																				0.627	NTMT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054589.1	NM_014064		3	107	0	0	0	1	0	3	107				
CADM1	23705	broad.mit.edu	37	11	115102104	115102104	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr11:115102104G>C	ENST00000452722.3	-	4	551	c.531C>G	c.(529-531)atC>atG	p.I177M	CADM1_ENST00000537058.1_Missense_Mutation_p.I177M|CADM1_ENST00000542447.2_Missense_Mutation_p.I177M|CADM1_ENST00000331581.6_Missense_Mutation_p.I177M|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000536727.1_Missense_Mutation_p.I177M	NM_014333.3	NP_055148.3			cell adhesion molecule 1									p.I177I(1)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		TGAACCACCTGATAGTCGTGG	0.463																																						uc001ppj.4																			1	Substitution - coding silent(1)	p.I177I(2)	lung(1)	cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32						c.(529-531)atC>atG		Homo sapiens cell adhesion molecule 1 (CADM1), transcript variant 1, mRNA.							251.0	218.0	230.0					11																	115102104		2201	4296	6497	SO:0001583	missense	23705				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	g.chr11:115102104G>C	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.531C>G	11.37:g.115102104G>C	ENSP00000395359:p.Ile177Met		Somatic				CADM1_uc001ppf.4_Missense_Mutation_p.I177M|CADM1_uc001ppi.4_Missense_Mutation_p.I177M|CADM1_uc001ppk.4_Missense_Mutation_p.I177M|CADM1_uc001ppl.3_Missense_Mutation_p.I177M	p.I177M	NM_014333	NP_055148	WXS	Illumina GAIIx	Phase_I	Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	3	660	-	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)	177			Ig-like C2-type 1.			Missense_Mutation	SNP	ENST00000452722.3	37	c.531C>G	CCDS8373.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	19.05|19.05|19.05	3.752434|3.752434|3.752434	0.69533|0.69533|0.69533	.|.|.	.|.|.	ENSG00000182985|ENSG00000182985|ENSG00000182985	ENST00000542447;ENST00000452722;ENST00000537058;ENST00000536727;ENST00000404468;ENST00000331581;ENST00000542450;ENST00000543540;ENST00000545094|ENST00000545380|ENST00000543249	D;D;D;D;D;D;D;D|.|.	0.81659|.|.	-1.52;-1.52;-1.52;-1.52;-1.52;-1.52;-1.52;-1.52|.|.	6.08|6.08|6.08	4.23|4.23|4.23	0.50019|0.50019|0.50019	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.|.	0.047632|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|.	0.74906|0.74906|.	0.3778|0.3778|.	M|M|M	0.87827|0.87827|0.87827	2.91|2.91|2.91	0.58432|0.58432|0.58432	D|D|D	0.999997|0.999997|0.999997	D;D;D;D;D|.|.	0.71674|.|.	0.968;0.998;0.996;0.996;0.985|.|.	P;D;D;D;P|.|.	0.72982|.|.	0.751;0.962;0.959;0.979;0.883|.|.	T|T|.	0.75291|0.75291|.	-0.3369|-0.3369|.	10|5|.	0.62326|.|.	D|.|.	0.03|.|.	.|.|.	7.8521|7.8521|7.8521	0.29462|0.29462|0.29462	0.1331:0.0:0.7359:0.131|0.1331:0.0:0.7359:0.131|0.1331:0.0:0.7359:0.131	.|.|.	177;177;178;177;177|.|.	Q9BY67-2;F5H0J4;A4FVB5;Q9BY67;A0A4Z1|.|.	.;.;.;CADM1_HUMAN;.|.|.	M|E|X	177;177;177;177;136;177;30;30;144|176|161	ENSP00000439176:I177M;ENSP00000395359:I177M;ENSP00000439817:I177M;ENSP00000440322:I177M;ENSP00000329797:I177M;ENSP00000442001:I30M;ENSP00000439847:I30M;ENSP00000439696:I144M|.|.	ENSP00000329797:I177M|.|.	I|Q|S	-|-|-	3|1|2	3|0|0	CADM1|CADM1|CADM1	114607314|114607314|114607314	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.583000|0.583000|0.583000	0.28640|0.28640|0.28640	0.909000|0.909000|0.909000	0.53808|0.53808|0.53808	4.482000|4.482000|4.482000	0.60257|0.60257|0.60257	0.914000|0.914000|0.914000	0.36822|0.36822|0.36822	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	ATC|CAG|TCA		0.463	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		5	81	0	0	0	1	0	5	81				
SYT11	23208	broad.mit.edu	37	1	155838393	155838393	+	Silent	SNP	C	C	T			TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr1:155838393C>T	ENST00000368324.4	+	2	925	c.672C>T	c.(670-672)gaC>gaT	p.D224D	SYT11_ENST00000539162.1_Intron	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	224	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				negative regulation of neurotransmitter secretion (GO:0046929)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			CTGTGTTTGACGAGACCTTCA	0.557																																						uc001fmg.3																			0		p.D224H(1)		breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(670-672)gaC>gaT		Homo sapiens synaptotagmin XI (SYT11), mRNA.							105.0	84.0	91.0					1																	155838393		2203	4300	6503	SO:0001819	synonymous_variant	23208					cell junction|synaptic vesicle membrane	protein binding|transporter activity	g.chr1:155838393C>T	D38522	CCDS1122.1	1q22	2013-01-21			ENSG00000132718	ENSG00000132718		"""Synaptotagmins"""	19239	protein-coding gene	gene with protein product		608741				11543631	Standard	NM_152280		Approved	KIAA0080, MGC10881, MGC17226, DKFZp781D015	uc001fmg.3	Q9BT88	OTTHUMG00000014105	ENST00000368324.4:c.672C>T	1.37:g.155838393C>T			Somatic				SYT11_uc010pgq.2_Intron	p.D224D	NM_152280	NP_689493	WXS	Illumina GAIIx	Phase_I	Q9BT88	SYT11_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.000162)		1	965	+	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		224			C2 1.		Q14998|Q5W0D4|Q68CT5|Q8IXU3|Q96SU2	Silent	SNP	ENST00000368324.4	37	c.672C>T	CCDS1122.1																																																																																				0.557	SYT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039597.1	NM_152280		19	44	0	0	0	1	0	19	44				
CDK13	8621	broad.mit.edu	37	7	40027812	40027812	+	Missense_Mutation	SNP	C	C	T	rs200341630		TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr7:40027812C>T	ENST00000181839.4	+	2	2431	c.1826C>T	c.(1825-1827)cCg>cTg	p.P609L	CDK13_ENST00000484589.1_3'UTR|CDK13_ENST00000340829.5_Missense_Mutation_p.P609L	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	609					alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						ACATTACCACCGTTACCTTTG	0.393																																						uc003thh.4																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						c.(1825-1827)cCg>cTg		Homo sapiens cyclin-dependent kinase 13 (CDK13), transcript variant 1, mRNA.							103.0	83.0	90.0					7																	40027812		2203	4300	6503	SO:0001583	missense	8621				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding	g.chr7:40027812C>T	M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"""Cyclin-dependent kinases"""	1733	protein-coding gene	gene with protein product	"""cholinesterase-related cell division controller"""	603309	"""cell division cycle 2-like 5 (cholinesterase-related cell division controller)"""	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.1826C>T	7.37:g.40027812C>T	ENSP00000181839:p.Pro609Leu		Somatic				CDK13_uc003thi.4_Missense_Mutation_p.P609L|CDK13_uc011kbf.2_5'UTR	p.P609L	NM_003718	NP_003709	WXS	Illumina GAIIx	Phase_I	Q14004	CDK13_HUMAN			1	2108	+			609					Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Missense_Mutation	SNP	ENST00000181839.4	37	c.1826C>T	CCDS5461.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.357296	0.82243	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.72942	-0.7;-0.63	6.02	6.02	0.97574	.	.	.	.	.	T	0.81626	0.4862	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.66847	0.947;0.886	T	0.78244	-0.2279	8	.	.	.	-10.3062	20.5373	0.99239	0.0:1.0:0.0:0.0	.	609;609	Q14004-2;Q14004	.;CDK13_HUMAN	L	609	ENSP00000181839:P609L;ENSP00000340557:P609L	.	P	+	2	0	CDK13	39994337	0.999000	0.42202	0.977000	0.42913	0.994000	0.84299	4.438000	0.59961	2.857000	0.98124	0.650000	0.86243	CCG		0.393	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	NM_003718		22	47	0	0	0	1	0	22	47				
SYNE2	23224	broad.mit.edu	37	14	64560157	64560157	+	Missense_Mutation	SNP	C	C	A	rs562336595		TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr14:64560157C>A	ENST00000344113.4	+	61	12279	c.12067C>A	c.(12067-12069)Cat>Aat	p.H4023N	SYNE2_ENST00000358025.3_Missense_Mutation_p.H4023N|MIR548H1_ENST00000408610.1_RNA|SYNE2_ENST00000555002.1_Missense_Mutation_p.H657N|SYNE2_ENST00000357395.3_Missense_Mutation_p.H408N|SYNE2_ENST00000394768.2_Missense_Mutation_p.H408N|SYNE2_ENST00000554584.1_Missense_Mutation_p.H4056N|ESR2_ENST00000542956.1_Intron	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4023					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTCCCTTGAACATATGTCACC	0.328																																						uc001xgl.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(12067-12069)Cat>Aat		Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.							126.0	128.0	127.0					14																	64560157		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding	g.chr14:64560157C>A	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.12067C>A	14.37:g.64560157C>A	ENSP00000341781:p.His4023Asn		Somatic				SYNE2_uc001xgm.3_Missense_Mutation_p.H4023N|SYNE2_uc021ruh.1_Missense_Mutation_p.H4056N|SYNE2_uc010apy.3_Missense_Mutation_p.H408N|SYNE2_uc010apx.1_Missense_Mutation_p.H415N	p.H4023N	NM_182914	NP_878918	WXS	Illumina GAIIx	Phase_I	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	60	12297	+			4023					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.12067C>A	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	C	9.984	1.228899	0.22542	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.55588	0.88;4.18;0.88;0.51;4.23;4.18	5.88	1.61	0.23674	.	0.735458	0.12510	N	0.462543	T	0.31420	0.0796	N	0.17082	0.46	0.44309	D	0.997182	B;B;B;B	0.06786	0.0;0.001;0.0;0.001	B;B;B;B	0.06405	0.002;0.001;0.002;0.002	T	0.08554	-1.0716	10	0.09590	T	0.72	.	10.1291	0.42667	0.1483:0.3541:0.4976:0.0	.	408;4057;4023;4023	Q8WXH0-7;D4YW74;Q8WXH0;Q8WXH0-2	.;.;SYNE2_HUMAN;.	N	4023;408;4023;4056;4056;657;408	ENSP00000350719:H4023N;ENSP00000349969:H408N;ENSP00000341781:H4023N;ENSP00000452570:H4056N;ENSP00000450831:H657N;ENSP00000378249:H408N	ENSP00000261678:H4056N	H	+	1	0	SYNE2	63629910	0.075000	0.21258	0.751000	0.31187	0.995000	0.86356	-0.125000	0.10579	0.764000	0.33197	0.585000	0.79938	CAT		0.328	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		4	94	0	0	0	1	0	4	94				
ANKS1A	23294	broad.mit.edu	37	6	34985386	34985386	+	Silent	SNP	C	C	T			TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr6:34985386C>T	ENST00000360359.3	+	11	1698	c.1560C>T	c.(1558-1560)ctC>ctT	p.L520L	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	520					ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TCCAGCTGCTCTGTACCGCTG	0.692																																						uc003ojx.4																			0				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1558-1560)ctC>ctT		Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1A (ANKS1A), mRNA.							30.0	34.0	33.0					6																	34985386		2202	4297	6499	SO:0001819	synonymous_variant	23294					cytoplasm	protein binding	g.chr6:34985386C>T	D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20961	protein-coding gene	gene with protein product		608994	"""ankyrin repeat and SAM domain containing 1"", ""ankyrin repeat and sterile alpha motif domain containing 1"""	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.1560C>T	6.37:g.34985386C>T			Somatic				ANKS1A_uc011dst.2_Silent_p.L60L|ANKS1A_uc010jvp.2_Intron	p.L520L	NM_015245	NP_056060	WXS	Illumina GAIIx	Phase_I	Q92625	ANS1A_HUMAN			10	1702	+			520					A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Silent	SNP	ENST00000360359.3	37	c.1560C>T	CCDS4798.1																																																																																				0.692	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040262.1	XM_166478		7	35	0	0	0	1	0	7	35				
HIST2H2AC	8338	broad.mit.edu	37	1	149858710	149858710	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr1:149858710delG	ENST00000331380.2	+	1	186	c.186delG	c.(184-186)gagfs	p.E62fs	BOLA1_ENST00000369153.2_5'Flank|HIST2H2BE_ENST00000369155.2_5'Flank	NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	62						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			TGACCGCCGAGATCCTGGAGC	0.672																																						uc001etd.3																			0				NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20						c.(184-186)gagfs		Homo sapiens histone cluster 2, H2ac (HIST2H2AC), mRNA.							44.0	48.0	47.0					1																	149858710		2203	4300	6503	SO:0001589	frameshift_variant	8338				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:149858710delG	AY131973	CCDS937.1	1q21.2	2011-01-27	2006-10-11	2003-02-21	ENSG00000184260	ENSG00000184260		"""Histones / Replication-dependent"""	4738	protein-coding gene	gene with protein product		602797	"""H2A histone family, member Q"", ""histone 2, H2ac"""	H2A, H2AFQ		1469070, 9439656, 12408966	Standard	NM_003517		Approved	H2A/q	uc001etd.3	Q16777	OTTHUMG00000035825	ENST00000331380.2:c.186delG	1.37:g.149858710delG	ENSP00000332194:p.Glu62fs		Somatic				HIST2H2BE_uc001etc.3_5'Flank	p.E62fs	NM_003517	NP_003508	WXS	Illumina GAIIx	Phase_I	Q16777	H2A2C_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		0	186	+	Breast(34;0.0124)|all_hematologic(923;0.127)		62					Q6DRA7|Q8IUE5	Frame_Shift_Del	DEL	ENST00000331380.2	37	c.186delG	CCDS937.1																																																																																				0.672	HIST2H2AC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087128.1	NM_003517		37	63						37	63	---	---	---	---
RBBP6	5930	broad.mit.edu	37	16	24581020	24581021	+	Frame_Shift_Ins	INS	-	-	AC			TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr16:24581020_24581021insAC	ENST00000319715.4	+	17	3441_3442	c.3009_3010insAC	c.(3010-3012)aaafs	p.K1004fs	RBBP6_ENST00000348022.2_Frame_Shift_Ins_p.K970fs|RBBP6_ENST00000381039.3_Intron	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1004	Interaction with RB1. {ECO:0000250}.				embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		CAGTGTCTGAAAAAGACAAGAG	0.371																																						uc002dmh.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46						c.(3007-3012)gaaaaafs		Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	5930				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:24581020_24581021insAC		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	Exception_encountered	16.37:g.24581020_24581021insAC	ENSP00000317872:p.Lys1004fs		Somatic				RBBP6_uc010vcb.1_Frame_Shift_Ins_p.E870fs|RBBP6_uc002dmi.3_Frame_Shift_Ins_p.E969fs|RBBP6_uc010bxr.3_Intron|RBBP6_uc002dmk.3_Frame_Shift_Ins_p.E836fs	p.E1003fs	NM_006910	NP_008841	WXS	Illumina GAIIx	Phase_I	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	16	4049_4050	+			1003			Interaction with RB1 (By similarity).		Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Frame_Shift_Ins	INS	ENST00000319715.4	37	c.3009_3010insAC	CCDS10621.1																																																																																				0.371	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		45	65						45	65	---	---	---	---
