#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
KIAA1429	25962	broad.mit.edu	37	8	95508670	95508670	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr8:95508670C>A	ENST00000297591.5	-	18	4344	c.4269G>T	c.(4267-4269)gaG>gaT	p.E1423D	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1423					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TATGAGCTCCCTCTACTTCCA	0.383																																						uc003ygo.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(4267-4269)gaG>gaT		Homo sapiens KIAA1429 (KIAA1429), transcript variant 1, mRNA.							182.0	156.0	165.0					8																	95508670		2203	4300	6503	SO:0001583	missense	25962				RNA splicing|mRNA processing	nucleus		g.chr8:95508670C>A	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.4269G>T	8.37:g.95508670C>A	ENSP00000297591:p.Glu1423Asp		Somatic				KIAA1429_uc010maz.2_Non-coding_Transcript	p.E1423D	NM_015496	NP_056311	WXS	Illumina GAIIx	Phase_I	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		17	4340	-	Breast(36;3.29e-05)		1423					Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	ENST00000297591.5	37	c.4269G>T	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	C	11.14	1.549966	0.27652	.	.	ENSG00000164944	ENST00000297591	T	0.46063	0.88	5.52	3.52	0.40303	.	0.512836	0.22268	N	0.062303	T	0.10508	0.0257	N	0.00170	-1.935	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.10730	-1.0617	10	0.14252	T	0.57	-5.0683	12.0164	0.53317	0.5815:0.4185:0.0:0.0	.	1423	Q69YN4	VIR_HUMAN	D	1423	ENSP00000297591:E1423D	ENSP00000297591:E1423D	E	-	3	2	KIAA1429	95577846	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.795000	0.38784	1.307000	0.44944	0.650000	0.86243	GAG		0.383	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		3	64	0	0	0	1	0	3	64				
MUC16	94025	broad.mit.edu	37	19	9069428	9069428	+	Missense_Mutation	SNP	G	G	T			TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr19:9069428G>T	ENST00000397910.4	-	3	18221	c.18018C>A	c.(18016-18018)caC>caA	p.H6006Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6008	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCTCTGAAAAGTGAATTGTCT	0.458																																						uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(18016-18018)caC>caA		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							207.0	206.0	207.0					19																	9069428		1925	4143	6068	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9069428G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.18018C>A	19.37:g.9069428G>T	ENSP00000381008:p.His6006Gln		Somatic					p.H6006Q	NM_024690	NP_078966	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			2	18222	-			6008			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.18018C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	6.257	0.415597	0.11870	.	.	ENSG00000181143	ENST00000397910	T	0.25912	1.77	1.36	0.173	0.15036	.	.	.	.	.	T	0.08758	0.0217	N	0.02158	-0.66	.	.	.	B	0.23540	0.087	B	0.14023	0.01	T	0.18681	-1.0329	8	0.87932	D	0	.	5.2389	0.15462	0.0:0.3721:0.6279:0.0	.	6006	B5ME49	.	Q	6006	ENSP00000381008:H6006Q	ENSP00000381008:H6006Q	H	-	3	2	MUC16	8930428	0.000000	0.05858	0.007000	0.13788	0.530000	0.34684	-1.104000	0.03326	0.125000	0.18397	0.281000	0.19383	CAC		0.458	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		24	153	0	0	0	1	0	24	153				
FAM135B	51059	broad.mit.edu	37	8	139164287	139164287	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr8:139164287A>G	ENST00000395297.1	-	13	2601	c.2431T>C	c.(2431-2433)Tct>Cct	p.S811P		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	811										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGAGAGCAAGATCCTGGGGAA	0.532										HNSCC(54;0.14)																												uc003yuy.3																			0		p.S811S(1)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(2431-2433)Tct>Cct		Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.							68.0	65.0	66.0					8																	139164287		2203	4300	6503	SO:0001583	missense	51059							g.chr8:139164287A>G	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2431T>C	8.37:g.139164287A>G	ENSP00000378710:p.Ser811Pro	HNSCC(54;0.14)	Somatic				FAM135B_uc003yux.3_Missense_Mutation_p.S712P|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.S373P|FAM135B_uc003yvb.3_Missense_Mutation_p.S373P	p.S811P	NM_015912	NP_056996	WXS	Illumina GAIIx	Phase_I	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		12	2602	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		811					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.2431T>C	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	A	9.001	0.980043	0.18812	.	.	ENSG00000147724	ENST00000395297	T	0.14893	2.47	5.39	-1.9	0.07665	.	1.820710	0.02202	N	0.062342	T	0.06050	0.0157	N	0.02539	-0.55	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.23440	-1.0188	10	0.28530	T	0.3	0.6741	1.2603	0.02000	0.2481:0.2051:0.3848:0.162	.	811;811;811	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	P	811	ENSP00000378710:S811P	ENSP00000276737:S811P	S	-	1	0	FAM135B	139233469	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.241000	0.08940	-0.045000	0.13468	-0.132000	0.14878	TCT		0.532	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		4	56	0	0	0	1	0	4	56				
SLC6A8	6535	broad.mit.edu	37	X	152956776	152956776	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chrX:152956776A>G	ENST00000253122.5	+	3	888	c.412A>G	c.(412-414)Atg>Gtg	p.M138V	SLC6A8_ENST00000430077.2_Missense_Mutation_p.M23V	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	138					cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|creatine transmembrane transport (GO:1902598)|creatine transport (GO:0015881)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	creatine transmembrane transporter activity (GO:0005308)|creatine:sodium symporter activity (GO:0005309)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	CTACGCCTCCATGGTGATCGT	0.607																																						uc004fib.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						c.(412-414)Atg>Gtg		Homo sapiens solute carrier family 6 (neurotransmitter transporter, creatine), member 8 (SLC6A8), transcript variant 1, mRNA.	Creatine(DB00148)						42.0	35.0	37.0					X																	152956776		2195	4291	6486	SO:0001583	missense	6535				creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chrX:152956776A>G		CCDS14726.1, CCDS48190.1	Xq28	2013-07-19	2013-07-19		ENSG00000130821	ENSG00000130821		"""Solute carriers"""	11055	protein-coding gene	gene with protein product	"""creatine transporter"""	300036	"""solute carrier family 6 (neurotransmitter transporter, creatine), member 8"""			7774949	Standard	NM_001142805		Approved	CRTR, CT1	uc004fib.3	P48029	OTTHUMG00000024208	ENST00000253122.5:c.412A>G	X.37:g.152956776A>G	ENSP00000253122:p.Met138Val		Somatic				SLC6A8_uc004fic.3_Missense_Mutation_p.M138V|SLC6A8_uc011myx.1_Missense_Mutation_p.M23V|SLC6A8_uc010nuj.2_5'Flank|SLC6A8_uc010nui.1_Missense_Mutation_p.M23V	p.M138V	NM_005629	NP_001136278	WXS	Illumina GAIIx	Phase_I	P48029	SC6A8_HUMAN			2	690	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		138					B2KY47|B4DIA3|E9PFC0|Q13032|Q66I36	Missense_Mutation	SNP	ENST00000253122.5	37	c.412A>G	CCDS14726.1	.	.	.	.	.	.	.	.	.	.	a	3.609	-0.079894	0.07141	.	.	ENSG00000130821	ENST00000253122;ENST00000430077	T;T	0.71461	-0.57;-0.57	3.76	3.76	0.43208	.	.	.	.	.	T	0.40196	0.1107	N	0.04132	-0.27	0.35408	D	0.792215	B;B;B	0.11235	0.003;0.004;0.002	B;B;B	0.18263	0.01;0.01;0.021	T	0.42666	-0.9438	9	0.02654	T	1	.	6.1864	0.20500	0.8788:0.0:0.1212:0.0	.	138;157;138	D3DWV2;Q59EV7;P48029	.;.;SC6A8_HUMAN	V	138;23	ENSP00000253122:M138V;ENSP00000403041:M23V	ENSP00000253122:M138V	M	+	1	0	SLC6A8	152609970	0.881000	0.30235	1.000000	0.80357	0.952000	0.60782	1.393000	0.34497	1.390000	0.46547	0.356000	0.21956	ATG		0.607	SLC6A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061003.1			9	10	0	0	0	1	0	9	10				
ZBTB39	9880	broad.mit.edu	37	12	57398352	57398352	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr12:57398352G>A	ENST00000300101.2	-	2	435	c.350C>T	c.(349-351)gCc>gTc	p.A117V		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	117					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						AGAGTGACAGGCCTGGAGGAG	0.557																																						uc001sml.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						c.(349-351)gCc>gTc		Homo sapiens zinc finger and BTB domain containing 39 (ZBTB39), mRNA.							77.0	70.0	72.0					12																	57398352		2203	4300	6503	SO:0001583	missense	9880				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:57398352G>A	AB002350	CCDS31839.1	12q13.3	2013-01-09				ENSG00000166860		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	29014	protein-coding gene	gene with protein product						9205841	Standard	NM_014830		Approved	KIAA0352, ZNF922	uc001sml.2	O15060		ENST00000300101.2:c.350C>T	12.37:g.57398352G>A	ENSP00000300101:p.Ala117Val		Somatic				ZBTB39_uc021qzg.1_Missense_Mutation_p.A117V	p.A117V	NM_014830	NP_055645	WXS	Illumina GAIIx	Phase_I	O15060	ZBT39_HUMAN			1	503	-			117					A7MD38|Q9UD98	Missense_Mutation	SNP	ENST00000300101.2	37	c.350C>T	CCDS31839.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.339651	0.41398	.	.	ENSG00000166860	ENST00000300101	T	0.68624	-0.34	5.93	5.93	0.95920	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.71787	0.3381	N	0.25890	0.77	0.58432	D	0.999998	D	0.63046	0.992	D	0.65874	0.939	T	0.69304	-0.5180	10	0.35671	T	0.21	-21.3566	17.8376	0.88704	0.0:0.0:1.0:0.0	.	117	O15060	ZBT39_HUMAN	V	117	ENSP00000300101:A117V	ENSP00000300101:A117V	A	-	2	0	ZBTB39	55684619	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.354000	0.73036	2.815000	0.96918	0.561000	0.74099	GCC		0.557	ZBTB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411214.1	NM_014830		13	56	0	0	0	1	0	13	56				
ALPK1	80216	broad.mit.edu	37	4	113353377	113353377	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr4:113353377G>A	ENST00000458497.1	+	11	2953	c.2674G>A	c.(2674-2676)Gta>Ata	p.V892I	ALPK1_ENST00000504176.2_Missense_Mutation_p.V814I|ALPK1_ENST00000177648.9_Missense_Mutation_p.V892I	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	892							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CAATTCCTCTGTAAGCGGTAA	0.552																																						uc003ian.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53						c.(2674-2676)Gta>Ata		Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA.							103.0	101.0	102.0					4																	113353377		2203	4300	6503	SO:0001583	missense	80216						ATP binding|protein serine/threonine kinase activity	g.chr4:113353377G>A	AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"""lymphocyte alpha-kinase"""	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.2674G>A	4.37:g.113353377G>A	ENSP00000398048:p.Val892Ile		Somatic				ALPK1_uc003iap.4_Missense_Mutation_p.V892I|ALPK1_uc011cfx.2_Missense_Mutation_p.V814I|ALPK1_uc003iao.4_Intron|ALPK1_uc010imo.3_Missense_Mutation_p.V720I	p.V892I	NM_001102406	NP_079420	WXS	Illumina GAIIx	Phase_I	Q96QP1	ALPK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00325)	10	2901	+		Ovarian(17;0.0446)|Hepatocellular(203;0.217)	892					B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	ENST00000458497.1	37	c.2674G>A	CCDS3697.1	.	.	.	.	.	.	.	.	.	.	G	11.28	1.591173	0.28357	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000504176	T;T;T	0.02579	4.31;4.31;4.24	5.17	-2.26	0.06867	.	1.283640	0.05158	N	0.497258	T	0.03477	0.0100	M	0.64997	1.995	0.09310	N	1	B;B;B	0.26318	0.053;0.146;0.031	B;B;B	0.22152	0.022;0.038;0.014	T	0.45086	-0.9285	10	0.37606	T	0.19	0.6981	1.5291	0.02532	0.1492:0.2799:0.2221:0.3488	.	814;814;892	F5H138;B4E3G1;Q96QP1	.;.;ALPK1_HUMAN	I	892;892;814	ENSP00000398048:V892I;ENSP00000177648:V892I;ENSP00000426044:V814I	ENSP00000177648:V892I	V	+	1	0	ALPK1	113572826	0.000000	0.05858	0.000000	0.03702	0.157000	0.22087	0.068000	0.14531	-0.338000	0.08413	0.655000	0.94253	GTA		0.552	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144		6	102	0	0	0	1	0	6	102				
CYLC2	1539	broad.mit.edu	37	9	105767017	105767017	+	Missense_Mutation	SNP	C	C	A	rs188765977		TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr9:105767017C>A	ENST00000374798.3	+	4	291	c.221C>A	c.(220-222)cCa>cAa	p.P74Q	CYLC2_ENST00000487798.1_Missense_Mutation_p.P74Q	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	74	31 X 3 AA repeats of K-K-X.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				CGTAGACAACCATTATGGATG	0.378													C|||	1	0.000199681	0.0	0.0	5008	,	,		15253	0.0		0.001	False		,,,				2504	0.0					uc004bbs.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41						c.(220-222)cCa>cAa		Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA.							85.0	81.0	83.0					9																	105767017		2203	4300	6503	SO:0001583	missense	1539				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	g.chr9:105767017C>A	Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.221C>A	9.37:g.105767017C>A	ENSP00000420256:p.Pro74Gln		Somatic					p.P74Q	NM_001340	NP_001331	WXS	Illumina GAIIx	Phase_I	Q14093	CYLC2_HUMAN			3	291	+		all_hematologic(171;0.125)	74			31 X 3 AA repeats of K-K-X.		B2R8F4|Q5VVJ9	Missense_Mutation	SNP	ENST00000374798.3	37	c.221C>A	CCDS35085.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	16.71	3.197866	0.58126	.	.	ENSG00000155833	ENST00000374798;ENST00000487798	T;T	0.23552	1.9;1.9	4.53	4.53	0.55603	.	0.000000	0.42964	D	0.000636	T	0.48466	0.1501	M	0.71581	2.175	0.34192	D	0.672217	D	0.89917	1.0	D	0.80764	0.994	T	0.62784	-0.6781	10	0.66056	D	0.02	-21.7515	12.9751	0.58532	0.0:1.0:0.0:0.0	.	74	Q14093	CYLC2_HUMAN	Q	74	ENSP00000420256:P74Q;ENSP00000417674:P74Q	ENSP00000420256:P74Q	P	+	2	0	CYLC2	104806838	0.767000	0.28508	0.953000	0.39169	0.664000	0.39144	3.221000	0.51215	2.511000	0.84671	0.591000	0.81541	CCA		0.378	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053463.3	NM_001340		14	26	0	0	0	1	0	14	26				
ABCC2	1244	broad.mit.edu	37	10	101596001	101596001	+	Missense_Mutation	SNP	A	A	T			TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr10:101596001A>T	ENST00000370449.4	+	25	3681	c.3568A>T	c.(3568-3570)Att>Ttt	p.I1190F		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1190	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	TGAGGTGAGGATTGACACCAA	0.483																																						uc001kqf.2																			0				NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67						c.(3568-3570)Att>Ttt		Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 2 (ABCC2), mRNA.	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						127.0	113.0	118.0					10																	101596001		2203	4300	6503	SO:0001583	missense	1244					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr10:101596001A>T	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.3568A>T	10.37:g.101596001A>T	ENSP00000359478:p.Ile1190Phe		Somatic					p.I1190F	NM_000392	NP_000383	WXS	Illumina GAIIx	Phase_I	Q92887	MRP2_HUMAN		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	24	3707	+		Colorectal(252;0.234)	1190			ABC transmembrane type-1 2.		B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	ENST00000370449.4	37	c.3568A>T	CCDS7484.1	.	.	.	.	.	.	.	.	.	.	A	12.50	1.957627	0.34565	.	.	ENSG00000023839	ENST00000370449	D	0.90069	-2.61	5.48	4.21	0.49690	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.137202	0.64402	D	0.000005	D	0.93602	0.7957	M	0.88775	2.98	0.80722	D	1	P	0.45827	0.867	P	0.57720	0.826	D	0.93246	0.6630	10	0.87932	D	0	-3.9213	9.4128	0.38503	0.8441:0.0:0.1559:0.0	.	1190	Q92887	MRP2_HUMAN	F	1190	ENSP00000359478:I1190F	ENSP00000359478:I1190F	I	+	1	0	ABCC2	101585991	0.847000	0.29606	0.105000	0.21289	0.368000	0.29767	2.446000	0.44908	0.900000	0.36469	0.260000	0.18958	ATT		0.483	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392		11	64	0	0	0	1	0	11	64				
RNF34	80196	broad.mit.edu	37	12	121855480	121855480	+	Silent	SNP	C	C	T			TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr12:121855480C>T	ENST00000392464.2	+	3	468	c.399C>T	c.(397-399)ccC>ccT	p.P133P	RNF34_ENST00000555076.1_Intron|RNF34_ENST00000361234.5_Silent_p.P133P|RNF34_ENST00000392465.3_Silent_p.P134P					ring finger protein 34, E3 ubiquitin protein ligase											breast(1)|large_intestine(1)	2	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233)		GAAATATACCCATAGATACTT	0.453																																						uc001uak.1																			0				breast(1)|large_intestine(1)	2						c.(400-402)ccC>ccT		Homo sapiens ring finger protein 34 (RNF34), transcript variant 1, mRNA.							127.0	120.0	123.0					12																	121855480		2203	4300	6503	SO:0001819	synonymous_variant	80196				apoptosis	endomembrane system|membrane|nuclear speck	ligase activity|zinc ion binding	g.chr12:121855480C>T	AF306709, AB084914	CCDS9221.1, CCDS31915.1, CCDS73538.1	12q24.31	2012-02-23	2012-02-23			ENSG00000170633		"""RING-type (C3HC4) zinc fingers"""	17297	protein-coding gene	gene with protein product		608299	"""ring finger protein 34"""			12118383	Standard	NM_025126		Approved	RIFF, FLJ21786, RIF	uc001ual.2	Q969K3		ENST00000392464.2:c.399C>T	12.37:g.121855480C>T			Somatic				RNF34_uc010szw.2_Silent_p.P134P|RNF34_uc001ual.1_Silent_p.P133P	p.P134P	NM_194271	NP_919247	WXS	Illumina GAIIx	Phase_I	Q969K3	RNF34_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233)	3	579	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		133			SAP 1.			Silent	SNP	ENST00000392464.2	37	c.402C>T																																																																																					0.453	RNF34-005	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000413892.1	NM_194271		4	71	0	0	0	1	0	4	71				
THSD1	55901	broad.mit.edu	37	13	52952229	52952229	+	Missense_Mutation	SNP	G	G	A	rs144799411		TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr13:52952229G>A	ENST00000258613.4	-	5	2054	c.1876C>T	c.(1876-1878)Cgc>Tgc	p.R626C	THSD1_ENST00000544466.1_Missense_Mutation_p.R247C|THSD1_ENST00000349258.4_Missense_Mutation_p.R573C	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	626					hematopoietic progenitor cell differentiation (GO:0002244)	cell periphery (GO:0071944)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		TGTGACTTGCGGATCAGAGTC	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		15632	0.0		0.001	False		,,,				2504	0.0					uc001vgo.3																			0				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1876-1878)Cgc>Tgc		Homo sapiens thrombospondin, type I, domain containing 1 (THSD1), transcript variant 1, mRNA.							48.0	47.0	48.0					13																	52952229		2203	4300	6503	SO:0001583	missense	55901					extracellular region|integral to membrane|intracellular membrane-bounded organelle		g.chr13:52952229G>A	AK096289	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114			17754	protein-coding gene	gene with protein product			"""thrombospondin, type I, domain 1"""				Standard	NM_018676		Approved	TMTSP	uc001vgo.3	Q9NS62	OTTHUMG00000016963	ENST00000258613.4:c.1876C>T	13.37:g.52952229G>A	ENSP00000258613:p.Arg626Cys		Somatic				THSD1_uc001vgp.3_Missense_Mutation_p.R573C|THSD1_uc010tgz.2_Missense_Mutation_p.R247C	p.R626C	NM_018676	NP_061146	WXS	Illumina GAIIx	Phase_I	Q9NS62	THSD1_HUMAN		GBM - Glioblastoma multiforme(99;2.8e-08)	4	2421	-		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	626					A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Missense_Mutation	SNP	ENST00000258613.4	37	c.1876C>T	CCDS9432.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	16.01	3.000795	0.54254	.	.	ENSG00000136114	ENST00000349258;ENST00000544466;ENST00000258613	T;T;T	0.33865	2.12;1.39;2.3	5.34	5.34	0.76211	.	0.346182	0.29653	N	0.011544	T	0.52933	0.1765	M	0.62723	1.935	0.45580	D	0.998525	D;D	0.89917	0.999;1.0	P;P	0.60415	0.809;0.874	T	0.55579	-0.8119	10	0.87932	D	0	-22.7323	13.701	0.62608	0.0:0.0:0.8358:0.1642	.	573;626	Q9NS62-2;Q9NS62	.;THSD1_HUMAN	C	573;247;626	ENSP00000340650:R573C;ENSP00000438512:R247C;ENSP00000258613:R626C	ENSP00000258613:R626C	R	-	1	0	THSD1	51850230	0.994000	0.37717	0.939000	0.37840	0.535000	0.34838	2.712000	0.47186	2.508000	0.84585	0.552000	0.68991	CGC		0.622	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045058.3			5	60	0	0	0	1	0	5	60				
VAC14	55697	broad.mit.edu	37	16	70815792	70815792	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr16:70815792G>A	ENST00000261776.5	-	8	1186	c.926C>T	c.(925-927)gCc>gTc	p.A309V		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	309					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of lipid kinase activity (GO:0043550)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|PAS complex (GO:0070772)	receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				GTCATCGTAGGCCAAGCAGGG	0.562																																						uc002ezm.3																			0				breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(925-927)gCc>gTc		Homo sapiens Vac14 homolog (S. cerevisiae) (VAC14), mRNA.							56.0	54.0	55.0					16																	70815792		2198	4300	6498	SO:0001583	missense	55697				interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity	g.chr16:70815792G>A	AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043			25507	protein-coding gene	gene with protein product		604632	"""Tax1 (human T-cell leukemia virus type I) binding protein 2"""	TAX1BP2		15542851, 12719380	Standard	NM_018052		Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.926C>T	16.37:g.70815792G>A	ENSP00000261776:p.Ala309Val		Somatic				VAC14_uc010cfw.3_Missense_Mutation_p.A75V|VAC14_uc002ezn.3_Intron|TRNA_Gly_uc021tkn.1_5'Flank	p.A309V	NM_018052	NP_060522	WXS	Illumina GAIIx	Phase_I	Q08AM6	VAC14_HUMAN			7	1184	-		Ovarian(137;0.0699)	309					B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	Missense_Mutation	SNP	ENST00000261776.5	37	c.926C>T	CCDS10896.1	.	.	.	.	.	.	.	.	.	.	G	34	5.330100	0.95733	.	.	ENSG00000103043	ENST00000261776	.	.	.	5.56	5.56	0.83823	Armadillo-like helical (1);Armadillo-type fold (1);	0.050648	0.85682	D	0.000000	T	0.60392	0.2265	L	0.55481	1.735	0.80722	D	1	B	0.27013	0.166	B	0.31390	0.129	T	0.56153	-0.8026	9	0.12430	T	0.62	-24.4398	19.5375	0.95260	0.0:0.0:1.0:0.0	.	309	Q08AM6	VAC14_HUMAN	V	309	.	ENSP00000261776:A309V	A	-	2	0	VAC14	69373293	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.452000	0.97615	2.620000	0.88729	0.655000	0.94253	GCC		0.562	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268973.3	NM_018052		3	69	0	0	0	1	0	3	69				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	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		37	35	0	0	0	1	0	37	35				
EMC4	51234	broad.mit.edu	37	15	34520681	34520681	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr15:34520681A>G	ENST00000267750.4	+	4	523	c.407A>G	c.(406-408)tAt>tGt	p.Y136C	EMC4_ENST00000559078.1_Intron|EMC4_ENST00000249209.4_Intron|EMC4_ENST00000557879.1_3'UTR|EMC4_ENST00000559421.1_Intron	NM_016454.2	NP_057538.1	Q5J8M3	EMC4_HUMAN	ER membrane protein complex subunit 4	136					apoptotic process (GO:0006915)	ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											GGTTTGGTCTATCTCATTGGG	0.443																																						uc001zhq.3																			0		p.Y136Y(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(406-408)tAt>tGt		Homo sapiens transmembrane protein 85 (TMEM85), mRNA.							206.0	189.0	195.0					15																	34520681		2201	4298	6499	SO:0001583	missense	51234				apoptosis	integral to membrane		g.chr15:34520681A>G	BC016348	CCDS10035.1, CCDS66732.1	15q14	2012-05-23	2012-05-23	2012-05-23	ENSG00000128463	ENSG00000128463			28032	protein-coding gene	gene with protein product			"""transmembrane protein 85"""	TMEM85		18586032, 22119785	Standard	NM_001286420		Approved	FLJ90746, MGC24415, PIG17	uc001zhq.3	Q5J8M3	OTTHUMG00000129411	ENST00000267750.4:c.407A>G	15.37:g.34520681A>G	ENSP00000267750:p.Tyr136Cys		Somatic				TMEM85_uc001zhs.3_Intron	p.Y136C	NM_016454	NP_057538	WXS	Illumina GAIIx	Phase_I	Q5J8M3	TMM85_HUMAN		all cancers(64;1.03e-17)|GBM - Glioblastoma multiforme(113;3.33e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)|Lung(196;0.217)	3	478	+		all_lung(180;1.15e-06)	136					A8K3A9|B4DJQ4|Q96KX9|Q9BUI5|Q9P0T9	Missense_Mutation	SNP	ENST00000267750.4	37	c.407A>G	CCDS10035.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.932092	0.73442	.	.	ENSG00000128463	ENST00000267750	T	0.62105	0.05	5.99	4.85	0.62838	.	0.055802	0.85682	D	0.000000	T	0.79179	0.4402	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.81371	-0.0963	10	0.87932	D	0	-7.388	11.7221	0.51688	0.8674:0.0:0.0:0.1326	.	136	Q5J8M3	TMM85_HUMAN	C	136	ENSP00000267750:Y136C	ENSP00000267750:Y136C	Y	+	2	0	TMEM85	32307973	1.000000	0.71417	0.990000	0.47175	0.963000	0.63663	6.437000	0.73421	1.076000	0.40961	0.449000	0.29647	TAT		0.443	EMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251568.1	NM_016454		32	107	0	0	0	1	0	32	107				
OR1N2	138882	broad.mit.edu	37	9	125316420	125316420	+	Silent	SNP	T	T	C			TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr9:125316420T>C	ENST00000373688.2	+	1	1030	c.972T>C	c.(970-972)agT>agC	p.S324S		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	324						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						TTTTTGTCAGTGGAAAAACAT	0.393																																						uc011lyx.2																			0				breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						c.(970-972)agT>agC		Homo sapiens olfactory receptor, family 1, subfamily N, member 2 (OR1N2), mRNA.							88.0	89.0	89.0					9																	125316420		2203	4300	6503	SO:0001819	synonymous_variant	138882				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125316420T>C		CCDS35123.1	9q33.2	2013-09-20			ENSG00000171501	ENSG00000171501		"""GPCR / Class A : Olfactory receptors"""	15111	protein-coding gene	gene with protein product							Standard	NM_001004457		Approved		uc011lyx.2	Q8NGR9	OTTHUMG00000020607	ENST00000373688.2:c.972T>C	9.37:g.125316420T>C			Somatic					p.S324S	NM_001004457	NP_001004457	WXS	Illumina GAIIx	Phase_I	Q8NGR9	OR1N2_HUMAN			0	972	+			324					A3KFM2|B2RNY4|Q6IF17|Q96RA3	Silent	SNP	ENST00000373688.2	37	c.972T>C	CCDS35123.1																																																																																				0.393	OR1N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053937.2			12	44	0	0	0	1	0	12	44				
SLC9A9	285195	broad.mit.edu	37	3	142985759	142985759	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr3:142985759C>A	ENST00000316549.6	-	16	1931	c.1723G>T	c.(1723-1725)Gag>Tag	p.E575*		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	575					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						ACATCATCCTCTTTTAGCTGT	0.428																																						uc003evn.3																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						c.(1723-1725)Gag>Tag		Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 9 (SLC9A9), mRNA.							102.0	99.0	100.0					3																	142985759		2203	4300	6503	SO:0001587	stop_gained	285195				regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	g.chr3:142985759C>A	AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"""Solute carriers"""	20653	protein-coding gene	gene with protein product		608396	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 9"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 9"""			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.1723G>T	3.37:g.142985759C>A	ENSP00000320246:p.Glu575*		Somatic					p.E575*	NM_173653	NP_775924	WXS	Illumina GAIIx	Phase_I	Q8IVB4	SL9A9_HUMAN			15	1932	-			575					A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Nonsense_Mutation	SNP	ENST00000316549.6	37	c.1723G>T	CCDS33872.1	.	.	.	.	.	.	.	.	.	.	C	36	5.718571	0.96839	.	.	ENSG00000181804	ENST00000316549	.	.	.	5.7	5.7	0.88788	.	0.690038	0.14344	N	0.325517	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	15.0275	0.71680	0.0:0.9303:0.0:0.0697	.	.	.	.	X	575	.	ENSP00000320246:E575X	E	-	1	0	SLC9A9	144468449	1.000000	0.71417	0.884000	0.34674	0.307000	0.27823	2.757000	0.47557	2.683000	0.91414	0.655000	0.94253	GAG		0.428	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354994.1	NM_173653		4	64	0	0	0	1	0	4	64				
OR6S1	341799	broad.mit.edu	37	14	21108936	21108936	+	Silent	SNP	C	C	T			TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr14:21108936C>T	ENST00000320704.3	-	1	914	c.915G>A	c.(913-915)aaG>aaA	p.K305K		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	305						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		TAAACATGTCCTTCAAAGCTT	0.398																																						uc001vxv.1																			0				kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(913-915)aaG>aaA		Homo sapiens olfactory receptor, family 6, subfamily S, member 1 (OR6S1), mRNA.							187.0	177.0	180.0					14																	21108936		2203	4300	6503	SO:0001819	synonymous_variant	341799				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:21108936C>T	AL163636	CCDS32038.1	14q11.2	2013-09-24			ENSG00000181803	ENSG00000181803		"""GPCR / Class A : Olfactory receptors"""	15363	protein-coding gene	gene with protein product							Standard	NM_001001968		Approved	OR6S1Q	uc001vxv.1	Q8NH40	OTTHUMG00000171010	ENST00000320704.3:c.915G>A	14.37:g.21108936C>T			Somatic					p.K305K	NM_001001968	NP_001001968	WXS	Illumina GAIIx	Phase_I	Q8NH40	OR6S1_HUMAN	Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)	0	915	-	all_cancers(95;0.00304)		305					Q6IFJ9	Silent	SNP	ENST00000320704.3	37	c.915G>A	CCDS32038.1																																																																																				0.398	OR6S1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411227.1			4	129	0	0	0	1	0	4	129				
