#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
IGKV1-9	28941	broad.mit.edu	37	2	89309913	89309913	+	RNA	SNP	C	C	G			TCGA-MK-A4N6-01A-11D-A257-08	TCGA-MK-A4N6-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c33c94b9-d7ae-44b7-9ce9-0fa286a340fd	f7d47101-8886-4c3c-a71f-4ab80053107c	g.chr2:89309913C>G	ENST00000493819.1	-	0	99									immunoglobulin kappa variable 1-9																		GGAGCCAGAGCAGCAGGAGCC	0.537																																						ENST00000493819.1																			0																				90.0	90.0	90.0					2																	89309913		1854	4089	5943			0							g.chr2:89309913C>G	Z00013		2p11.2	2012-02-10			ENSG00000241755	ENSG00000241755		"""Immunoglobulins / IGK locus"""	5744	other	immunoglobulin gene							Standard	NG_000834		Approved	IGKV19, L8			OTTHUMG00000151637		2.37:g.89309913C>G														0	99	-									RNA	SNP	ENST00000493819.1	37																																																																																						0.537	IGKV1-9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323361.1	NG_000834		17	87	0	0	0	1	0	17	87				
KLHL26	55295	broad.mit.edu	37	19	18779952	18779952	+	Missense_Mutation	SNP	A	A	T			TCGA-MK-A4N6-01A-11D-A257-08	TCGA-MK-A4N6-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c33c94b9-d7ae-44b7-9ce9-0fa286a340fd	f7d47101-8886-4c3c-a71f-4ab80053107c	g.chr19:18779952A>T	ENST00000300976.4	+	3	1835	c.1745A>T	c.(1744-1746)aAc>aTc	p.N582I	KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	582										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CAGGTGTACAACACGGACACC	0.657																																						ENST00000300976.4																			0				breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(1744-1746)aAc>aTc		kelch-like family member 26							29.0	33.0	32.0					19																	18779952		2202	4297	6499	SO:0001583	missense	55295							g.chr19:18779952A>T		CCDS12384.1	19p13.11	2013-10-15	2013-02-22		ENSG00000167487	ENSG00000167487		"""Kelch-like"", ""BTB/POZ domain containing"""	25623	protein-coding gene	gene with protein product			"""kelch-like 26 (Drosophila)"""				Standard	XM_006722785		Approved		uc002njz.1	Q53HC5	OTTHUMG00000183114	ENST00000300976.4:c.1745A>T	19.37:g.18779952A>T	ENSP00000300976:p.Asn582Ile					KLHL26_ENST00000599006.1_Intron	p.N582I	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN			3	1835	+			582					Q8TAP0|Q9NUX3	Missense_Mutation	SNP	ENST00000300976.4	37	c.1745A>T	CCDS12384.1	.	.	.	.	.	.	.	.	.	.	A	18.96	3.733238	0.69189	.	.	ENSG00000167487	ENST00000300976	T	0.80033	-1.33	4.34	4.34	0.51931	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.84866	0.5567	M	0.85462	2.755	0.80722	D	1	P	0.51240	0.943	P	0.48488	0.579	D	0.86569	0.1846	9	.	.	.	.	12.704	0.57049	1.0:0.0:0.0:0.0	.	582	Q53HC5	KLH26_HUMAN	I	582	ENSP00000300976:N582I	.	N	+	2	0	KLHL26	18640952	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.058000	0.93896	1.611000	0.50210	0.379000	0.24179	AAC		0.657	KLHL26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465145.1	NM_018316		17	36	0	0	0	1	0	17	36				
KIF4B	285643	broad.mit.edu	37	5	154395925	154395925	+	Missense_Mutation	SNP	G	G	A			TCGA-MK-A4N6-01A-11D-A257-08	TCGA-MK-A4N6-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c33c94b9-d7ae-44b7-9ce9-0fa286a340fd	f7d47101-8886-4c3c-a71f-4ab80053107c	g.chr5:154395925G>A	ENST00000435029.4	+	1	2666	c.2506G>A	c.(2506-2508)Gac>Aac	p.D836N		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	836	Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TCAGATTGCTGACCTACAGCA	0.443																																						ENST00000435029.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(2506-2508)Gac>Aac		kinesin family member 4B							68.0	68.0	68.0					5																	154395925		2203	4300	6503	SO:0001583	missense	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154395925G>A	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.2506G>A	5.37:g.154395925G>A	ENSP00000387875:p.Asp836Asn						p.D836N	NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	2666	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	836			Interaction with PRC1 (By similarity).			Missense_Mutation	SNP	ENST00000435029.4	37	c.2506G>A	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	g	18.66	3.671050	0.67814	.	.	ENSG00000226650	ENST00000435029	T	0.71934	-0.61	1.8	1.8	0.24995	.	.	.	.	.	T	0.82010	0.4944	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.82163	-0.0593	9	0.52906	T	0.07	.	9.5697	0.39420	0.0:0.0:1.0:0.0	.	836	Q2VIQ3	KIF4B_HUMAN	N	836	ENSP00000387875:D836N	ENSP00000387875:D836N	D	+	1	0	KIF4B	154376118	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.525000	0.60559	1.330000	0.45394	0.563000	0.77884	GAC		0.443	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			13	29	0	0	0	1	0	13	29				
GLOD5	392465	broad.mit.edu	37	X	48631755	48631755	+	Silent	SNP	A	A	G			TCGA-MK-A4N6-01A-11D-A257-08	TCGA-MK-A4N6-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c33c94b9-d7ae-44b7-9ce9-0fa286a340fd	f7d47101-8886-4c3c-a71f-4ab80053107c	g.chrX:48631755A>G	ENST00000303227.6	+	4	428	c.387A>G	c.(385-387)ccA>ccG	p.P129P	GLOD5_ENST00000470676.1_3'UTR	NM_001080489.2	NP_001073958.2	A6NK44	GLOD5_HUMAN	glyoxalase domain containing 5	129										endometrium(1)|lung(2)	3						AGGAGGGGCCAGTCCCCAGAA	0.473																																						ENST00000303227.6																			0				endometrium(1)|lung(2)	3						c.(385-387)ccA>ccG		glyoxalase domain containing 5							94.0	86.0	89.0					X																	48631755		1890	4097	5987	SO:0001819	synonymous_variant	392465							g.chrX:48631755A>G		CCDS55410.1	Xp11.23	2008-02-05			ENSG00000171433	ENSG00000171433			33358	protein-coding gene	gene with protein product							Standard	NM_001080489		Approved		uc011mmh.2	A6NK44	OTTHUMG00000024125	ENST00000303227.6:c.387A>G	X.37:g.48631755A>G						GLOD5_ENST00000470676.1_3'UTR	p.P129P	NM_001080489.2	NP_001073958.2					4	428	+									Silent	SNP	ENST00000303227.6	37	c.387A>G	CCDS55410.1	.	.	.	.	.	.	.	.	.	.	a	9.930	1.214459	0.22289	.	.	ENSG00000171433	ENST00000445229	.	.	.	5.05	2.34	0.29019	.	.	.	.	.	T	0.45935	0.1367	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.30937	-0.9961	4	.	.	.	.	3.1419	0.06458	0.5132:0.0:0.1047:0.3821	.	.	.	.	R	96	.	.	Q	+	2	0	GLOD5	48516699	0.502000	0.26107	0.979000	0.43373	0.897000	0.52465	-0.287000	0.08388	0.632000	0.30432	0.483000	0.47432	CAG		0.473	GLOD5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080489		16	11	0	0	0	1	0	16	11				
AKT3	10000	broad.mit.edu	37	1	243736307	243736307	+	Missense_Mutation	SNP	C	C	T			TCGA-MK-A4N6-01A-11D-A257-08	TCGA-MK-A4N6-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c33c94b9-d7ae-44b7-9ce9-0fa286a340fd	f7d47101-8886-4c3c-a71f-4ab80053107c	g.chr1:243736307C>T	ENST00000366539.1	-	9	940	c.740G>A	c.(739-741)cGc>cAc	p.R247H	AKT3_ENST00000263826.5_Missense_Mutation_p.R247H|AKT3_ENST00000366540.1_Missense_Mutation_p.R247H|AKT3_ENST00000336199.5_Missense_Mutation_p.R247H			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	247	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitochondrial genome maintenance (GO:0000002)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			GAAACGTGTGCGGTCCTCAGA	0.418																																						ENST00000366539.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						c.(739-741)cGc>cAc		v-akt murine thymoma viral oncogene homolog 3							73.0	71.0	72.0					1																	243736307		2203	4300	6503	SO:0001583	missense	10000				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:243736307C>T	AF124141	CCDS31076.1, CCDS31077.1	1q44	2013-07-09	2013-07-09		ENSG00000117020	ENSG00000117020	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	393	protein-coding gene	gene with protein product	"""protein kinase B, gamma"""	611223				10092583, 10208883	Standard	NM_005465		Approved	PKBG, RAC-gamma, PRKBG	uc001iab.2	Q9Y243	OTTHUMG00000039994	ENST00000366539.1:c.740G>A	1.37:g.243736307C>T	ENSP00000355497:p.Arg247His					AKT3_ENST00000366540.1_Missense_Mutation_p.R247H|AKT3_ENST00000336199.5_Missense_Mutation_p.R247H|AKT3_ENST00000263826.5_Missense_Mutation_p.R247H	p.R247H			Q9Y243	AKT3_HUMAN	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)		9	940	-	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	247			Protein kinase.		Q0VAA6|Q5VTI1|Q5VTI2|Q96QV3|Q9UFP5	Missense_Mutation	SNP	ENST00000366539.1	37	c.740G>A	CCDS31077.1	.	.	.	.	.	.	.	.	.	.	C	34	5.395614	0.96009	.	.	ENSG00000117020	ENST00000336199;ENST00000366540;ENST00000366539;ENST00000263826	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	5.87	5.87	0.94306	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.66684	0.2814	N	0.17872	0.535	0.80722	D	1	D;D	0.69078	0.997;0.983	P;P	0.59825	0.864;0.634	T	0.70490	-0.4857	10	0.87932	D	0	.	20.206	0.98277	0.0:1.0:0.0:0.0	.	247;247	Q9Y243;Q9Y243-2	AKT3_HUMAN;.	H	247	ENSP00000336943:R247H;ENSP00000355498:R247H;ENSP00000355497:R247H;ENSP00000263826:R247H	ENSP00000263826:R247H	R	-	2	0	AKT3	241802930	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.785000	0.95823	0.655000	0.94253	CGC		0.418	AKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096479.1	NM_181690		3	29	0	0	0	1	0	3	29				
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	G	C	rs141357429		TCGA-MK-A4N6-01A-11D-A257-08	TCGA-MK-A4N6-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c33c94b9-d7ae-44b7-9ce9-0fa286a340fd	f7d47101-8886-4c3c-a71f-4ab80053107c	g.chr17:39274087G>C	ENST00000391413.2	-	1	519	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.L161V(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGGACGCAGGcagcagcag	0.657																																						ENST00000391413.2																			1	Substitution - Missense(1)	p.L161V(1)	prostate(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(481-483)Ctg>Gtg		keratin associated protein 4-11							17.0	21.0	20.0					17																	39274087		692	1589	2281	SO:0001583	missense	653240					keratin filament		g.chr17:39274087G>C	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.481C>G	17.37:g.39274087G>C	ENSP00000375232:p.Leu161Val						p.L161V	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	519	-		Breast(137;0.000496)	161			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.481C>G	CCDS45675.1	249	0.11401098901098901	67	0.13617886178861788	40	0.11049723756906077	104	0.18181818181818182	38	0.05013192612137203	.	1.347	-0.592411	0.03799	.	.	ENSG00000212721	ENST00000391413	T	0.00614	6.21	4.35	0.986	0.19784	.	.	.	.	.	T	0.00012	0.0000	L	0.31752	0.955	0.80722	P	0.0	B	0.30068	0.267	B	0.18871	0.023	T	0.19063	-1.0317	8	0.11794	T	0.64	.	5.8913	0.18915	0.1751:0.0:0.6569:0.168	.	161	Q9BYQ6	KR411_HUMAN	V	161	ENSP00000375232:L161V	ENSP00000375232:L161V	L	-	1	2	KRTAP4-11	36527613	0.671000	0.27521	0.912000	0.35992	0.970000	0.65996	0.971000	0.29396	0.348000	0.23949	0.609000	0.83330	CTG		0.657	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			3	18	0	0	0	1	0	3	18				
KMT2A	4297	broad.mit.edu	37	11	118374951	118374951	+	Missense_Mutation	SNP	A	A	G			TCGA-MK-A4N6-01A-11D-A257-08	TCGA-MK-A4N6-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c33c94b9-d7ae-44b7-9ce9-0fa286a340fd	f7d47101-8886-4c3c-a71f-4ab80053107c	g.chr11:118374951A>G	ENST00000389506.5	+	27	8335	c.8335A>G	c.(8335-8337)Aag>Gag	p.K2779E	KMT2A_ENST00000534358.1_Missense_Mutation_p.K2782E|KMT2A_ENST00000354520.4_Missense_Mutation_p.K2741E			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2779					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										AAATGAGCCAAAGATGGATAA	0.433																																						ENST00000534358.1																			0											c.(8344-8346)Aag>Gag		lysine (K)-specific methyltransferase 2A							92.0	91.0	91.0					11																	118374951		2200	4296	6496	SO:0001583	missense	4297							g.chr11:118374951A>G	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.8335A>G	11.37:g.118374951A>G	ENSP00000374157:p.Lys2779Glu					KMT2A_ENST00000389506.5_Missense_Mutation_p.K2779E|KMT2A_ENST00000354520.4_Missense_Mutation_p.K2741E	p.K2782E	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					27	8367	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.8344A>G	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	A	13.46	2.245271	0.39697	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.83075	-1.68;-1.68;-1.65	6.17	6.17	0.99709	.	0.049917	0.85682	D	0.000000	T	0.78104	0.4231	L	0.40543	1.245	0.50171	D	0.999855	B;B	0.33212	0.402;0.402	B;B	0.29267	0.1;0.1	T	0.78440	-0.2203	10	0.72032	D	0.01	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	2782;2779	E9PQG7;Q03164	.;MLL1_HUMAN	E	2782;2779;2741;1689	ENSP00000436786:K2782E;ENSP00000374157:K2779E;ENSP00000346516:K2741E	ENSP00000346516:K2741E	K	+	1	0	MLL	117880161	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	4.236000	0.58675	2.371000	0.80710	0.533000	0.62120	AAG		0.433	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		23	78	0	0	0	1	0	23	78				
BMP1	649	broad.mit.edu	37	8	22054270	22054270	+	Nonsense_Mutation	SNP	A	A	T			TCGA-MK-A4N6-01A-11D-A257-08	TCGA-MK-A4N6-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c33c94b9-d7ae-44b7-9ce9-0fa286a340fd	f7d47101-8886-4c3c-a71f-4ab80053107c	g.chr8:22054270A>T	ENST00000306385.5	+	14	2513	c.1843A>T	c.(1843-1845)Aag>Tag	p.K615*	BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000306349.8_Nonsense_Mutation_p.K615*|BMP1_ENST00000397816.3_Nonsense_Mutation_p.K615*	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	615	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CCCCCCCAACAAGAACTGCAT	0.607																																						ENST00000306385.5																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30						c.(1843-1845)Aag>Tag		bone morphogenetic protein 1							64.0	56.0	59.0					8																	22054270		2203	4300	6503	SO:0001587	stop_gained	649				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding	g.chr8:22054270A>T		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.1843A>T	8.37:g.22054270A>T	ENSP00000305714:p.Lys615*					BMP1_ENST00000306349.8_Nonsense_Mutation_p.K615*|BMP1_ENST00000397816.3_Nonsense_Mutation_p.K615*|BMP1_ENST00000354870.5_3'UTR	p.K615*	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN		Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)	14	2513	+			615			CUB 3.		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Nonsense_Mutation	SNP	ENST00000306385.5	37	c.1843A>T	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	A	37	6.586188	0.97684	.	.	ENSG00000168487	ENST00000306385;ENST00000397816;ENST00000306349	.	.	.	5.65	4.46	0.54185	.	0.176952	0.26623	U	0.023346	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.8257	0.52265	0.853:0.147:0.0:0.0	.	.	.	.	X	615	.	ENSP00000306121:K615X	K	+	1	0	BMP1	22110215	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.332000	0.96446	0.940000	0.37473	0.379000	0.24179	AAG		0.607	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		13	23	0	0	0	1	0	13	23				
PTGER3	5733	broad.mit.edu	37	1	71512720	71512720	+	Missense_Mutation	SNP	C	C	A	rs200372986	byFrequency	TCGA-MK-A4N6-01A-11D-A257-08	TCGA-MK-A4N6-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c33c94b9-d7ae-44b7-9ce9-0fa286a340fd	f7d47101-8886-4c3c-a71f-4ab80053107c	g.chr1:71512720C>A	ENST00000306666.5	-	1	751	c.541G>T	c.(541-543)Gtg>Ttg	p.V181L	PTGER3_ENST00000414819.1_Missense_Mutation_p.V181L|PTGER3_ENST00000460330.1_Missense_Mutation_p.V181L|PTGER3_ENST00000354608.5_Missense_Mutation_p.V181L|PTGER3_ENST00000370932.2_Missense_Mutation_p.V181L|ZRANB2-AS1_ENST00000450461.1_RNA|PTGER3_ENST00000370924.4_Missense_Mutation_p.V181L|PTGER3_ENST00000370931.3_Missense_Mutation_p.V181L|PTGER3_ENST00000356595.4_Missense_Mutation_p.V181L|PTGER3_ENST00000351052.5_Missense_Mutation_p.V181L	NM_198719.1	NP_942012.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	181					cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of fever generation (GO:0031622)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|prostaglandin E receptor activity (GO:0004957)			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)|Dinoprostone(DB00917)|Misoprostol(DB00929)	GCCAGCCACACGCCGAGCAGC	0.726																																						ENST00000370924.4																			0				endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						c.(541-543)Gtg>Ttg		prostaglandin E receptor 3 (subtype EP3)	Bimatoprost(DB00905)						20.0	21.0	21.0					1																	71512720		2197	4286	6483	SO:0001583	missense	5733				cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity	g.chr1:71512720C>A	X83863	CCDS652.1, CCDS655.1, CCDS656.1, CCDS657.1, CCDS658.1	1p31.2	2012-08-08			ENSG00000050628	ENSG00000050628		"""GPCR / Class A : Prostanoid receptors"""	9595	protein-coding gene	gene with protein product		176806				7759114, 9073510	Standard	NM_001126044		Approved	EP3	uc001dfo.3	P43115	OTTHUMG00000009399	ENST00000306666.5:c.541G>T	1.37:g.71512720C>A	ENSP00000302313:p.Val181Leu					PTGER3_ENST00000460330.1_Missense_Mutation_p.V181L|PTGER3_ENST00000354608.5_Missense_Mutation_p.V181L|PTGER3_ENST00000356595.4_Missense_Mutation_p.V181L|PTGER3_ENST00000414819.1_Missense_Mutation_p.V181L|PTGER3_ENST00000370931.3_Missense_Mutation_p.V181L|PTGER3_ENST00000370932.2_Missense_Mutation_p.V181L|PTGER3_ENST00000306666.5_Missense_Mutation_p.V181L|PTGER3_ENST00000351052.5_Missense_Mutation_p.V181L	p.V181L	NM_198715.2	NP_942008.1	P43115	PE2R3_HUMAN			1	771	-			181					B0AZN4|B1AK19|B5BUP5|O00326|Q12943|Q12944|Q12945|Q16546|Q5CZ59|Q5CZ61|Q5CZ62|Q5CZ63|Q5CZ64	Missense_Mutation	SNP	ENST00000306666.5	37	c.541G>T	CCDS657.1	.	.	.	.	.	.	.	.	.	.	C	18.93	3.726917	0.69074	.	.	ENSG00000050628	ENST00000370931;ENST00000370932;ENST00000351052;ENST00000460330;ENST00000370934;ENST00000354608;ENST00000356595;ENST00000414819;ENST00000306666;ENST00000370924	T;T;T;T;T;T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82;-0.82;-0.82;-0.82;-0.82;-0.82	5.1	5.1	0.69264	GPCR, rhodopsin-like superfamily (1);	0.159254	0.52532	D	0.000072	T	0.68109	0.2965	L	0.31294	0.92	0.42436	D	0.992698	D;D;D;D;D;D;D;D	0.69078	0.985;0.985;0.969;0.992;0.997;0.981;0.981;0.985	P;P;P;P;D;P;P;P	0.67548	0.796;0.796;0.808;0.879;0.952;0.693;0.693;0.796	T	0.69120	-0.5229	10	0.37606	T	0.19	-34.5613	8.9338	0.35686	0.0:0.8329:0.0:0.1671	.	181;181;181;181;181;181;181;181	Q147U0;Q6TTN3;F5H821;B1AK19;Q147X8;P43115-3;P43115-4;P43115	.;.;.;.;.;.;.;PE2R3_HUMAN	L	181	ENSP00000359969:V181L;ENSP00000359970:V181L;ENSP00000280208:V181L;ENSP00000418073:V181L;ENSP00000346624:V181L;ENSP00000349003:V181L;ENSP00000401423:V181L;ENSP00000302313:V181L;ENSP00000359962:V181L	ENSP00000302313:V181L	V	-	1	0	PTGER3	71285308	0.990000	0.36364	0.956000	0.39512	0.981000	0.71138	1.165000	0.31822	2.643000	0.89663	0.462000	0.41574	GTG		0.726	PTGER3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026076.1	NM_000957		4	50	1	0	0.014758	1	0.0153046	4	50				
SLCO6A1	133482	broad.mit.edu	37	5	101794169	101794169	+	Missense_Mutation	SNP	G	G	A			TCGA-MK-A4N6-01A-11D-A257-08	TCGA-MK-A4N6-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c33c94b9-d7ae-44b7-9ce9-0fa286a340fd	f7d47101-8886-4c3c-a71f-4ab80053107c	g.chr5:101794169G>A	ENST00000506729.1	-	6	1219	c.1048C>T	c.(1048-1050)Cgt>Tgt	p.R350C	SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.R350C|SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.R288C			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	350						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		AGCTGTTTACGTTTCCTAGCT	0.294																																						ENST00000506729.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1048-1050)Cgt>Tgt		solute carrier organic anion transporter family, member 6A1							133.0	131.0	132.0					5																	101794169		2201	4300	6501	SO:0001583	missense	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101794169G>A	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.1048C>T	5.37:g.101794169G>A	ENSP00000421339:p.Arg350Cys					SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.R288C|SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.R350C|SLCO6A1_ENST00000379810.1_Intron	p.R350C			Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	6	1219	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	350					A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	37	c.1048C>T	CCDS34206.1	.	.	.	.	.	.	.	.	.	.	G	7.806	0.714760	0.15306	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019	T;T;T	0.81247	-1.47;-1.47;-1.47	4.3	-0.997	0.10215	Major facilitator superfamily domain, general substrate transporter (1);	2.743770	0.00789	N	0.001322	T	0.75191	0.3816	M	0.74258	2.255	0.09310	N	1	P;P	0.44044	0.825;0.735	B;B	0.35607	0.206;0.189	T	0.60969	-0.7157	10	0.54805	T	0.06	.	0.8993	0.01270	0.1862:0.1516:0.3518:0.3104	.	288;350	Q86UG4-2;Q86UG4	.;SO6A1_HUMAN	C	350;350;288	ENSP00000421339:R350C;ENSP00000369135:R350C;ENSP00000373671:R288C	ENSP00000369135:R350C	R	-	1	0	SLCO6A1	101822068	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.281000	0.08456	-0.205000	0.10219	-0.123000	0.14984	CGT		0.294	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		19	25	0	0	0	1	0	19	25				
CREBZF	58487	broad.mit.edu	37	11	85375047	85375047	+	Silent	SNP	C	C	T			TCGA-MK-A4N6-01A-11D-A257-08	TCGA-MK-A4N6-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c33c94b9-d7ae-44b7-9ce9-0fa286a340fd	f7d47101-8886-4c3c-a71f-4ab80053107c	g.chr11:85375047C>T	ENST00000527447.1	-	1	1099	c.873G>A	c.(871-873)ctG>ctA	p.L291L	CREBZF_ENST00000398294.2_Silent_p.L209L|CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000531515.1_Intron	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	291					negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				GCGAGGTGGTCAGCCGCAGTC	0.652											OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(172;674 2044 9050 18334 41735)	ENST00000527447.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(871-873)ctG>ctA		CREB/ATF bZIP transcription factor							40.0	46.0	44.0					11																	85375047		2057	4174	6231	SO:0001819	synonymous_variant	58487				negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:85375047C>T	AF039942	CCDS41697.1	11q14.1	2013-01-10			ENSG00000137504	ENSG00000137504		"""basic leucine zipper proteins"""	24905	protein-coding gene	gene with protein product	"""Zhangfei"""	606444				10871379	Standard	NM_001039618		Approved	ZF	uc001pas.2	Q9NS37	OTTHUMG00000133648	ENST00000527447.1:c.873G>A	11.37:g.85375047C>T			OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1236	CREBZF_ENST00000398294.2_Silent_p.L209L|CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000531515.1_Intron	p.L291L	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN			1	1099	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	291					B2R8Q9|Q0P5U9|Q52LT3	Silent	SNP	ENST00000527447.1	37	c.873G>A	CCDS41697.1																																																																																				0.652	CREBZF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390191.2	NM_001039618		8	112	0	0	0	1	0	8	112				
CAMSAP1	157922	broad.mit.edu	37	9	138713459	138713459	+	Silent	SNP	G	G	A	rs117165081	byFrequency	TCGA-MK-A4N6-01A-11D-A257-08	TCGA-MK-A4N6-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c33c94b9-d7ae-44b7-9ce9-0fa286a340fd	f7d47101-8886-4c3c-a71f-4ab80053107c	g.chr9:138713459G>A	ENST00000389532.4	-	11	3112	c.3048C>T	c.(3046-3048)gaC>gaT	p.D1016D	CAMSAP1_ENST00000409386.3_Silent_p.D1027D|CAMSAP1_ENST00000312405.6_Silent_p.D738D|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1016					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		ATTCATTCACGTCGACAACCT	0.512													G|||	28	0.00559105	0.0	0.0	5008	,	,		20132	0.0109		0.0	False		,,,				2504	0.0174					ENST00000389532.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47						c.(3046-3048)gaC>gaT		calmodulin regulated spectrin-associated protein 1		G		1,4405	4.2+/-10.8	0,1,2202	78.0	65.0	69.0		3048	-7.2	0.0	9	dbSNP_132	69	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CAMSAP1	NM_015447.3		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		1016/1603	138713459	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	157922					cytoplasm|microtubule		g.chr9:138713459G>A	AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.3048C>T	9.37:g.138713459G>A						CAMSAP1_ENST00000312405.6_Silent_p.D738D|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Silent_p.D1027D	p.D1016D	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)	11	3112	-			1016					A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Silent	SNP	ENST00000389532.4	37	c.3048C>T	CCDS35176.2																																																																																				0.512	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857		4	51	0	0	0	1	0	4	51				
POLR2J4	84820	broad.mit.edu	37	7	44054352	44054352	+	RNA	SNP	T	T	C	rs56000326	byFrequency	TCGA-MK-A4N6-01A-11D-A257-08	TCGA-MK-A4N6-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c33c94b9-d7ae-44b7-9ce9-0fa286a340fd	f7d47101-8886-4c3c-a71f-4ab80053107c	g.chr7:44054352T>C	ENST00000427076.1	-	0	209				RP5-1165K10.2_ENST00000454572.1_RNA|POLR2J4_ENST00000326391.6_RNA	NR_003655.2				polymerase (RNA) II (DNA directed) polypeptide J4, pseudogene																		AGCCAGCAAATAGCACTTGCG	0.577													N|||	2124	0.424121	0.4516	0.3818	5008	,	,		16566	0.4474		0.329	False		,,,				2504	0.4908					ENST00000427076.1																			0																																																			0							g.chr7:44054352T>C			7p13	2008-08-21			ENSG00000214783	ENSG00000214783			28195	pseudogene	pseudogene						15586814	Standard	NR_003655		Approved	MGC13098	uc010kxw.2		OTTHUMG00000155253		7.37:g.44054352T>C								NR_003655.2						0	209	-									RNA	SNP	ENST00000427076.1	37																																																																																						0.577	POLR2J4-002	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473169.1	NR_003655		7	152	0	0	0	1	0	7	152				
CYP4F24P	388514	broad.mit.edu	37	19	15881953	15881953	+	lincRNA	SNP	A	A	G	rs4807986	byFrequency	TCGA-MK-A4N6-01A-11D-A257-08	TCGA-MK-A4N6-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c33c94b9-d7ae-44b7-9ce9-0fa286a340fd	f7d47101-8886-4c3c-a71f-4ab80053107c	g.chr19:15881953A>G	ENST00000595525.1	+	0	1122																		p.W142fs*32(2)									CGGAAGCGCCACCCGTCATGG	0.537													.|||	3264	0.651757	0.795	0.5922	5008	,	,		22064	0.3313		0.7614	False		,,,				2504	0.7178					ENST00000587443.2																			2	Deletion - Frameshift(2)	p.W142fs*32(2)	breast(2)																																																0							g.chr19:15881953A>G																													19.37:g.15881953A>G								NR_033864.1						0	944	-									RNA	SNP	ENST00000595525.1	37			1402	0.641941391941392	390	0.7926829268292683	234	0.6464088397790055	199	0.3479020979020979	579	0.7638522427440633	.	0.001	-3.662979	0.00006	.	.	ENSG00000225607	ENST00000412610	.	.	.	1.94	-0.283	0.12874	.	.	.	.	.	T	0.00012	0.0000	.	.	.	.	.	.	B	0.02656	0.0	B	0.06405	0.002	T	0.40701	-0.9549	6	0.02654	T	1	.	2.6523	0.05003	0.444:0.0:0.3384:0.2176	rs4807986;rs56699685	142	B4DNA9	.	R	142	.	ENSP00000389636:W142R	W	-	1	0	AC011537.1	15742953	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.155000	0.10115	-0.312000	0.08741	-1.258000	0.01471	TGG		0.537	LLNLR-249E10.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000472008.1			6	61	0	0	0	1	0	6	61				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-MK-A4N6-01A-11D-A257-08	TCGA-MK-A4N6-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c33c94b9-d7ae-44b7-9ce9-0fa286a340fd	f7d47101-8886-4c3c-a71f-4ab80053107c	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		27	44	0	0	0	1	0	27	44				
NBEAP1	606	broad.mit.edu	37	15	20874799	20874799	+	RNA	SNP	A	A	C	rs11633771	byFrequency	TCGA-MK-A4N6-01A-11D-A257-08	TCGA-MK-A4N6-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c33c94b9-d7ae-44b7-9ce9-0fa286a340fd	f7d47101-8886-4c3c-a71f-4ab80053107c	g.chr15:20874799A>C	ENST00000556948.1	-	0	449							P0C6P0	BCL8_HUMAN	neurobeachin pseudogene 1																		ATACATACCTAATCCTTTAGG	0.343																																						ENST00000556948.1																			0																																																			0							g.chr15:20874799A>C			15q11.2	2014-03-20	2011-05-03	2011-05-03	ENSG00000258590	ENSG00000258590			1007	pseudogene	pseudogene		601889	"""B-cell CLL/lymphoma 8"""	BCL8		9159141	Standard	NR_027992		Approved	BCL8A	uc010tze.1	P0C6P0	OTTHUMG00000171717		15.37:g.20874799A>C														0	449	-									RNA	SNP	ENST00000556948.1	37																																																																																						0.343	NBEAP1-002	KNOWN	not_best_in_genome_evidence|basic	retained_intron	pseudogene	OTTHUMT00000414853.1	NR_027992		26	51	0	0	0	1	0	26	51				
ARHGAP8	23779	broad.mit.edu	37	22	45210582	45210582	+	Silent	SNP	G	G	A			TCGA-MK-A4N6-01A-11D-A257-08	TCGA-MK-A4N6-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c33c94b9-d7ae-44b7-9ce9-0fa286a340fd	f7d47101-8886-4c3c-a71f-4ab80053107c	g.chr22:45210582G>A	ENST00000389774.2	+	6	564	c.423G>A	c.(421-423)gtG>gtA	p.V141V	ARHGAP8_ENST00000336963.4_Silent_p.V110V|ARHGAP8_ENST00000356099.6_Silent_p.V110V|PRR5-ARHGAP8_ENST00000361473.5_Silent_p.V241V|ARHGAP8_ENST00000389773.5_Silent_p.V232V|PRR5-ARHGAP8_ENST00000352766.7_Silent_p.V320V|ARHGAP8_ENST00000517296.3_Silent_p.V320V	NM_001017526.1	NP_001017526.1	P85298	RHG08_HUMAN	Rho GTPase activating protein 8	141	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(9)|prostate(1)|skin(7)	29		all_neural(38;0.00409)|Ovarian(80;0.00976)|Glioma(61;0.0649)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0204)		CCCTCTACGTGGTGCACCCCA	0.577																																						ENST00000352766.7																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8)	30						c.(958-960)gtG>gtA									139.0	112.0	121.0					22																	45210582		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr22:45210582G>A	AF177331	CCDS14060.2, CCDS33664.1, CCDS56233.1	22q13.3	2010-05-11			ENSG00000241484	ENSG00000241484		"""Rho GTPase activating proteins"""	677	protein-coding gene	gene with protein product		609405				10591208	Standard	NM_001198726		Approved	FLJ20185, BPGAP1		P85298	OTTHUMG00000030234	ENST00000389774.2:c.423G>A	22.37:g.45210582G>A						ARHGAP8_ENST00000336963.4_Silent_p.V110V|ARHGAP8_ENST00000356099.6_Silent_p.V110V|ARHGAP8_ENST00000389774.2_Silent_p.V141V|ARHGAP8_ENST00000389773.5_Silent_p.V232V|PRR5-ARHGAP8_ENST00000361473.5_Silent_p.V241V|ARHGAP8_ENST00000517296.3_Silent_p.V320V	p.V320V							10	960	+								A6ZJ79|A6ZJ80|O75983|O95695|Q96RW1|Q96RW2|Q9HA49|Q9HC46|Q9NSG0|Q9NVX8|Q9NXL1|Q9UH20	Silent	SNP	ENST00000389774.2	37	c.960G>A	CCDS33664.1	.	.	.	.	.	.	.	.	.	.	G	11.28	1.591634	0.28357	.	.	ENSG00000248405	ENST00000515632	.	.	.	4.43	-8.3	0.01005	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.0319	0.09713	0.0795:0.2529:0.1506:0.5169	.	.	.	.	X	164	.	.	W	+	2	0	PRR5-ARHGAP8	43589246	0.001000	0.12720	0.075000	0.20258	0.817000	0.46193	-1.531000	0.02219	-0.828000	0.04273	0.650000	0.86243	TGG		0.577	ARHGAP8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000075088.4	NM_017701		7	68	0	0	0	1	0	7	68				
SEL1L3	23231	broad.mit.edu	37	4	25769225	25769225	+	Frame_Shift_Del	DEL	C	C	-			TCGA-MK-A4N6-01A-11D-A257-08	TCGA-MK-A4N6-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c33c94b9-d7ae-44b7-9ce9-0fa286a340fd	f7d47101-8886-4c3c-a71f-4ab80053107c	g.chr4:25769225delC	ENST00000399878.3	-	19	2889	c.2767delG	c.(2767-2769)gccfs	p.A923fs	RP11-302F12.10_ENST00000510905.1_RNA|SEL1L3_ENST00000502949.1_Frame_Shift_Del_p.A770fs|SEL1L3_ENST00000264868.5_Frame_Shift_Del_p.A888fs	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	923						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						TATCTCCTGGCCAGGTCCTAA	0.388																																						ENST00000399878.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						c.(2767-2769)ccfs		sel-1 suppressor of lin-12-like 3 (C. elegans)							77.0	69.0	72.0					4																	25769225		1852	4097	5949	SO:0001589	frameshift_variant	23231					integral to membrane	binding	g.chr4:25769225delC	BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"""KIAA0746 protein"""					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.2767delG	4.37:g.25769225delC	ENSP00000382767:p.Ala923fs					SEL1L3_ENST00000502949.1_Frame_Shift_Del_p.A770fs|SEL1L3_ENST00000264868.5_Frame_Shift_Del_p.A888fs	p.A923fs	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN			19	2889	-			923					A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Frame_Shift_Del	DEL	ENST00000399878.3	37	c.2767delG	CCDS47037.1																																																																																				0.388	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1	NM_015187		2	4						2	4	---	---	---	---
FRG1B	284802	broad.mit.edu	37	20	29628226	29628226	+	Splice_Site	DEL	G	G	-	rs78710112	byFrequency	TCGA-MK-A4N6-01A-11D-A257-08	TCGA-MK-A4N6-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c33c94b9-d7ae-44b7-9ce9-0fa286a340fd	f7d47101-8886-4c3c-a71f-4ab80053107c	g.chr20:29628226delG	ENST00000278882.3	+	6	608		c.e6-1		FRG1B_ENST00000439954.2_Splice_Site|FRG1B_ENST00000358464.4_Splice_Site			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B											endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTTTCACTTAGGGGAAAATGG	0.358																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.e6-1																																						SO:0001630	splice_region_variant	0							g.chr20:29628226delG			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.229-1G>-	20.37:g.29628226delG						FRG1B_ENST00000439954.2_Splice_Site|FRG1B_ENST00000358464.4_Splice_Site								6	608	+								C4AME5	Splice_Site	DEL	ENST00000278882.3	37																																																																																						0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579	Intron	9	124						9	124	---	---	---	---
BACH1	571	broad.mit.edu	37	21	30714912	30714912	+	Frame_Shift_Del	DEL	A	A	-			TCGA-MK-A4N6-01A-11D-A257-08	TCGA-MK-A4N6-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c33c94b9-d7ae-44b7-9ce9-0fa286a340fd	f7d47101-8886-4c3c-a71f-4ab80053107c	g.chr21:30714912delA	ENST00000399921.1	+	5	2212	c.1969delA	c.(1969-1971)aaafs	p.K657fs	BACH1_ENST00000286800.3_Frame_Shift_Del_p.K657fs	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	0					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						TGAAAAAGATAAAAGTACTCC	0.443																																						ENST00000399921.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						c.(1969-1971)aafs		BTB and CNC homology 1, basic leucine zipper transcription factor 1							85.0	93.0	90.0					21																	30714912		2203	4300	6503	SO:0001589	frameshift_variant	571					nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr21:30714912delA	AF026200	CCDS13585.1	21q22.1	2013-01-10			ENSG00000156273	ENSG00000156273		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	935	protein-coding gene	gene with protein product		602751				9544839, 9479503	Standard	NR_027655		Approved	BACH-1, BTBD24	uc002ynj.3	O14867	OTTHUMG00000078878	ENST00000399921.1:c.1969delA	21.37:g.30714912delA	ENSP00000382805:p.Lys657fs					BACH1_ENST00000286800.3_Frame_Shift_Del_p.K657fs	p.K657fs	NM_206866.1	NP_996749.1	O14867	BACH1_HUMAN			5	2212	+			657					Q3MJE2|Q8NCI5	Frame_Shift_Del	DEL	ENST00000399921.1	37	c.1969delA	CCDS13585.1																																																																																				0.443	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171974.1	NM_206866		20	61						20	61	---	---	---	---
