#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
CYTH4	27128	broad.mit.edu	37	22	37688673	37688673	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr22:37688673C>A	ENST00000248901.6	+	2	218	c.31C>A	c.(31-33)Ctg>Atg	p.L11M	CYTH4_ENST00000405206.3_Missense_Mutation_p.L11M|CYTH4_ENST00000402997.1_Missense_Mutation_p.L11M|CYTH4_ENST00000439667.1_3'UTR	NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	11					positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						GCCCGCGGAGCTGAGCAGCGG	0.612																																						uc003arf.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						c.(31-33)Ctg>Atg		Homo sapiens cytohesin 4 (CYTH4), mRNA.							143.0	125.0	131.0					22																	37688673		2203	4300	6503	SO:0001583	missense	27128				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr22:37688673C>A	AF075458	CCDS13946.1	22q12.3-q13.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000100055	ENSG00000100055		"""Pleckstrin homology (PH) domain containing"""	9505	protein-coding gene	gene with protein product		606514	"""pleckstrin homology, Sec7 and coiled/coil domains 4"", ""pleckstrin homology, Sec7 and coiled-coil domains 4"""	PSCD4		10591208	Standard	NM_013385		Approved	CYT4, cytohesin-4	uc003arf.3	Q9UIA0	OTTHUMG00000150562	ENST00000248901.6:c.31C>A	22.37:g.37688673C>A	ENSP00000248901:p.Leu11Met		Somatic				CYTH4_uc003ard.4_Missense_Mutation_p.L11M|CYTH4_uc003are.2_Missense_Mutation_p.L11M|CYTH4_uc011amw.2_5'UTR	p.L11M	NM_013385	NP_037517	WXS	Illumina GAIIx	Phase_I	Q9UIA0	CYH4_HUMAN			1	147	+			11					Q5R3F9|Q9UGT6	Missense_Mutation	SNP	ENST00000248901.6	37	c.31C>A	CCDS13946.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.880178	0.51801	.	.	ENSG00000100055	ENST00000457992;ENST00000248901;ENST00000422721;ENST00000402997;ENST00000405206;ENST00000404204	T;T;T;T	0.57436	0.4;2.8;0.45;0.43	4.83	4.83	0.62350	.	1.012730	0.07907	N	0.973581	T	0.73273	0.3566	M	0.81802	2.56	0.22017	N	0.999412	D;D	0.89917	0.999;1.0	D;D	0.76071	0.98;0.987	T	0.58165	-0.7684	10	0.62326	D	0.03	.	9.188	0.37182	0.0:0.9001:0.0:0.0999	.	11;24	Q9UIA0;Q9H7Q0	CYH4_HUMAN;.	M	11;11;24;11;11;11	ENSP00000405442:L11M;ENSP00000248901:L11M;ENSP00000385997:L11M;ENSP00000384280:L11M	ENSP00000248901:L11M	L	+	1	2	CYTH4	36018619	1.000000	0.71417	0.997000	0.53966	0.314000	0.28054	2.572000	0.45999	2.236000	0.73375	0.561000	0.74099	CTG		0.612	CYTH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318917.1			36	46	0	0	0	1	0	36	46				
KIAA1755	85449	broad.mit.edu	37	20	36869357	36869357	+	Silent	SNP	T	T	C			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr20:36869357T>C	ENST00000279024.4	-	3	1447	c.1176A>G	c.(1174-1176)tcA>tcG	p.S392S		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	392										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CTGGCTCTTGTGAGACACCTG	0.587																																						uc002xhy.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54						c.(1174-1176)tcA>tcG		Homo sapiens KIAA1755 (KIAA1755), mRNA.							85.0	88.0	87.0					20																	36869357		2203	4300	6503	SO:0001819	synonymous_variant	85449							g.chr20:36869357T>C	AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.1176A>G	20.37:g.36869357T>C			Somatic				KIAA1755_uc002xhz.1_Silent_p.S392S	p.S392S	NM_001029864	NP_001025035	WXS	Illumina GAIIx	Phase_I	Q5JYT7	K1755_HUMAN			2	1448	-		Myeloproliferative disorder(115;0.00874)	392					Q9C0A8	Silent	SNP	ENST00000279024.4	37	c.1176A>G	CCDS33467.1																																																																																				0.587	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		71	158	0	0	0	1	0	71	158				
Unknown	0	broad.mit.edu	37	7	75124522	75124522	+	IGR	SNP	A	A	G			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr7:75124522A>G								POM121C (8974 upstream) : PMS2P3 (12552 downstream)																							TGGCTGGAAAAGGAAGAGGGA	0.577																																						uc011kfy.2																			0											c.(88-90)Agg>Ggg		Homo sapiens speedy homolog E5 (Xenopus laevis) (SPDYE5), mRNA.							9.0	9.0	9.0					7																	75124522		1350	2273	3623	SO:0001628	intergenic_variant	442590							g.chr7:75124522A>G																													7.37:g.75124522A>G			Somatic					p.R30G	NM_001099435	NP_001092905	WXS	Illumina GAIIx	Phase_I	A6NIY4	SPDE5_HUMAN			0	224	+			30						Missense_Mutation	SNP		37	c.88A>G																																																																																				0	0.577									3	57	0	0	0	1	0	3	57				
DOCK3	1795	broad.mit.edu	37	3	51399384	51399384	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr3:51399384G>A	ENST00000266037.9	+	48	5124	c.5101G>A	c.(5101-5103)Ggc>Agc	p.G1701S		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1701					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GCTGGGTGACGGCTCCATGGG	0.567																																						uc011bds.2																			0				breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45						c.(5101-5103)Ggc>Agc		Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.							88.0	92.0	90.0					3																	51399384		2151	4256	6407	SO:0001583	missense	1795					cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity	g.chr3:51399384G>A	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.5101G>A	3.37:g.51399384G>A	ENSP00000266037:p.Gly1701Ser		Somatic					p.G1701S	NM_004947	NP_004938	WXS	Illumina GAIIx	Phase_I	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	47	5124	+			1701					O15017	Missense_Mutation	SNP	ENST00000266037.9	37	c.5101G>A	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	G	1.698	-0.502187	0.04261	.	.	ENSG00000088538	ENST00000266037;ENST00000402669	T	0.04317	3.65	5.31	-0.0328	0.13903	.	0.409694	0.31847	N	0.006972	T	0.01800	0.0057	N	0.04018	-0.295	0.23089	N	0.998315	B	0.06786	0.001	B	0.04013	0.001	T	0.48647	-0.9017	10	0.02654	T	1	.	9.775	0.40614	0.6426:0.0:0.3574:0.0	.	1701	Q8IZD9	DOCK3_HUMAN	S	1701;497	ENSP00000266037:G1701S	ENSP00000266037:G1701S	G	+	1	0	DOCK3	51374424	1.000000	0.71417	0.925000	0.36789	0.419000	0.31324	2.190000	0.42630	0.107000	0.17824	-0.302000	0.09304	GGC		0.567	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		6	13	0	0	0	1	0	6	13				
ALDH1L1	10840	broad.mit.edu	37	3	125850235	125850235	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr3:125850235T>C	ENST00000393434.2	-	13	1964	c.1615A>G	c.(1615-1617)Aag>Gag	p.K539E	ALDH1L1_ENST00000452905.2_Missense_Mutation_p.K438E|ALDH1L1_ENST00000393431.2_Intron|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.K539E|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.K549E	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	539	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	ACCTGGATCTTGTCACACCAG	0.607																																						uc003eim.1																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52						c.(1615-1617)Aag>Gag		Homo sapiens aldehyde dehydrogenase 1 family, member L1 (ALDH1L1), mRNA.	Tetrahydrofolic acid(DB00116)						141.0	136.0	138.0					3																	125850235		2203	4300	6503	SO:0001583	missense	10840				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	g.chr3:125850235T>C	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.1615A>G	3.37:g.125850235T>C	ENSP00000377083:p.Lys539Glu		Somatic				ALDH1L1_uc010hse.1_Intron|ALDH1L1_uc011bki.1_Missense_Mutation_p.K438E|ALDH1L1_uc003eio.3_Missense_Mutation_p.K241E	p.K539E	NM_012190	NP_036322	WXS	Illumina GAIIx	Phase_I	O75891	AL1L1_HUMAN		GBM - Glioblastoma multiforme(114;0.0462)	12	1805	-			539			Aldehyde dehydrogenase.		B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	ENST00000393434.2	37	c.1615A>G	CCDS3034.1	.	.	.	.	.	.	.	.	.	.	T	18.98	3.738676	0.69304	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434	T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07	4.05	4.05	0.47172	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.86138	0.5861	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87440	0.2394	10	0.87932	D	0	.	11.2444	0.48987	0.0:0.0:0.0:1.0	.	438;539	E9PBX3;O75891	.;AL1L1_HUMAN	E	549;539;438;539	ENSP00000273450:K549E;ENSP00000420293:K539E;ENSP00000395881:K438E;ENSP00000377083:K539E	ENSP00000273450:K549E	K	-	1	0	ALDH1L1	127332925	1.000000	0.71417	1.000000	0.80357	0.533000	0.34776	7.277000	0.78572	1.815000	0.52974	0.383000	0.25322	AAG		0.607	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		86	224	0	0	0	1	0	86	224				
STAT1	6772	broad.mit.edu	37	2	191862642	191862642	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr2:191862642C>G	ENST00000361099.3	-	9	1112	c.725G>C	c.(724-726)aGa>aCa	p.R242T	STAT1_ENST00000392323.2_Missense_Mutation_p.R244T|STAT1_ENST00000392322.3_Missense_Mutation_p.R242T|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Missense_Mutation_p.R242T	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	242					apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			GCTCTGCTGTCTCCGCTTCCA	0.483																																						uc010fse.2																			0		p.R241W(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(724-726)aGa>aCa		Homo sapiens signal transducer and activator of transcription 1, 91kDa (STAT1), transcript variant alpha, mRNA.	Fludarabine(DB01073)						79.0	75.0	77.0					2																	191862642		2203	4300	6503	SO:0001583	missense	6772				I-kappaB kinase/NF-kappaB cascade|activation of caspase activity|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|calcium ion binding|protein binding|signal transducer activity	g.chr2:191862642C>G		CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"""SH2 domain containing"""	11362	protein-coding gene	gene with protein product	"""transcription factor ISGF-3 components p91/p84"""	600555	"""signal transducer and activator of transcription 1, 91kD"""			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.725G>C	2.37:g.191862642C>G	ENSP00000354394:p.Arg242Thr		Somatic				STAT1_uc021vue.1_Missense_Mutation_p.R54T|STAT1_uc002usj.2_Missense_Mutation_p.R242T|STAT1_uc002usk.2_Missense_Mutation_p.R242T|STAT1_uc002usl.2_Missense_Mutation_p.R244T|STAT1_uc010fsf.1_Missense_Mutation_p.R54T	p.R242T	NM_007315	NP_009330	WXS	Illumina GAIIx	Phase_I	P42224	STAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		7	1157	-			242					A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Missense_Mutation	SNP	ENST00000361099.3	37	c.725G>C	CCDS2309.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.068218	0.76301	.	.	ENSG00000115415	ENST00000361099;ENST00000409465;ENST00000392322;ENST00000392323;ENST00000544783	T;T;T;T	0.62498	0.02;0.02;0.02;0.02	5.28	5.28	0.74379	STAT transcription factor, all-alpha (2);STAT transcription factor, coiled coil (1);	0.000000	0.85682	D	0.000000	D	0.82522	0.5055	M	0.86651	2.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.99;0.991	D	0.85041	0.0923	10	0.72032	D	0.01	-27.766	19.1174	0.93346	0.0:1.0:0.0:0.0	.	242;242	P42224-2;P42224	.;STAT1_HUMAN	T	242;242;242;244;150	ENSP00000354394:R242T;ENSP00000386244:R242T;ENSP00000376136:R242T;ENSP00000376137:R244T	ENSP00000354394:R242T	R	-	2	0	STAT1	191570887	0.981000	0.34729	0.156000	0.22583	0.434000	0.31775	7.651000	0.83577	2.746000	0.94184	0.655000	0.94253	AGA		0.483	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3	NM_007315		3	64	0	0	0	1	0	3	64				
SYNE1	23345	broad.mit.edu	37	6	152765610	152765611	+	Missense_Mutation	DNP	TG	TG	CT			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr6:152765610_152765611TG>CT	ENST00000367255.5	-	30	4373_4374	c.3772_3773CA>AG	c.(3772-3774)CAa>AGa	p.Q1258R	SYNE1_ENST00000341594.5_Missense_Mutation_p.Q1324R|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q1265R|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q1258R|SYNE1_ENST00000423061.1_Missense_Mutation_p.Q1265R|SYNE1_ENST00000367253.4_Missense_Mutation_p.Q1258R|SYNE1_ENST00000367248.3_Missense_Mutation_p.Q1248R|SYNE1_ENST00000413186.2_Missense_Mutation_p.Q1258R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1258					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTTCTCAGCTTGTTCCTGGACT	0.366										HNSCC(10;0.0054)																												uc021zhb.1																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(3772-3774)caa>AGa		Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.																																				SO:0001583	missense	23345				Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding	g.chr6:152765610_152765611TG>CT	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.3772_3773delinsCT	6.37:g.152765610_152765611delinsCT	ENSP00000356224:p.Gln1258Arg	HNSCC(10;0.0054)	Somatic				SYNE1_uc003qot.4_Missense_Mutation_p.Q1265R|SYNE1_uc003qou.4_Missense_Mutation_p.Q1258R|SYNE1_uc010kjb.1_Missense_Mutation_p.Q1241R|SYNE1_uc003qow.3_Missense_Mutation_p.Q553R|SYNE1_uc003qox.1_Missense_Mutation_p.Q774R	p.Q1258R	NM_182961	NP_892006	WXS	Illumina GAIIx	Phase_I	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	27	3995_3996	-		Ovarian(120;0.0955)	1258					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	DNP	ENST00000367255.5	37	c.3772_3773CA>AG	CCDS5236.2																																																																																				0.366	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		29	86	0	0	0	1	0	29	86				
KRT18P55	284085	broad.mit.edu	37	17	26603792	26603792	+	RNA	SNP	T	T	C	rs138730739		TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr17:26603792T>C	ENST00000577198.1	-	0	1169				AC061975.8_ENST00000385109.1_RNA	NR_028334.1				keratin 18 pseudogene 55																		CCAAGTGACATTGGTGTCATC	0.502													T|||	1	0.000199681	0.0	0.0	5008	,	,		22443	0.001		0.0	False		,,,				2504	0.0					uc002has.3																			0											c.(682-684)aAt>aGt		Homo sapiens keratin 18 pseudogene 55 (KRT18P55), non-coding RNA.							33.0	33.0	33.0					17																	26603792		2200	4300	6500			284085							g.chr17:26603792T>C			17q11.2	2013-06-25			ENSG00000265480	ENSG00000265480			26874	pseudogene	pseudogene							Standard	NR_028334		Approved		uc002has.3		OTTHUMG00000179422		17.37:g.26603792T>C			Somatic					p.N228S			WXS	Illumina GAIIx	Phase_I					2	1170	-									Missense_Mutation	SNP	ENST00000577198.1	37	c.683A>G																																																																																					0.502	KRT18P55-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000446194.1	NR_028334		23	45	0	0	0	1	0	23	45				
CCDC54	84692	broad.mit.edu	37	3	107097052	107097052	+	Silent	SNP	C	C	T			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr3:107097052C>T	ENST00000261058.1	+	1	865	c.618C>T	c.(616-618)gaC>gaT	p.D206D		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	206										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						AGTCCACTGACCATCTTGAGA	0.393																																						uc003dwi.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						c.(616-618)gaC>gaT		Homo sapiens coiled-coil domain containing 54 (CCDC54), mRNA.							73.0	73.0	73.0					3																	107097052		2203	4300	6503	SO:0001819	synonymous_variant	84692							g.chr3:107097052C>T	AF367469	CCDS2949.1	3q13.12	2013-10-11			ENSG00000138483	ENSG00000138483			30703	protein-coding gene	gene with protein product	"""sperm protein 17"""					15257753	Standard	NM_032600		Approved	NYD-SP17, FLJ25362, SP17	uc003dwi.1	Q8NEL0	OTTHUMG00000159169	ENST00000261058.1:c.618C>T	3.37:g.107097052C>T			Somatic					p.D206D	NM_032600	NP_115989	WXS	Illumina GAIIx	Phase_I	Q8NEL0	CCD54_HUMAN			0	865	+			206					Q96A43	Silent	SNP	ENST00000261058.1	37	c.618C>T	CCDS2949.1																																																																																				0.393	CCDC54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353651.1	NM_032600		34	81	0	0	0	1	0	34	81				
USP6	9098	broad.mit.edu	37	17	5076150	5076150	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr17:5076150T>A	ENST00000574788.1	+	38	6328	c.4098T>A	c.(4096-4098)taT>taA	p.Y1366*	USP6_ENST00000332776.4_3'UTR|USP6_ENST00000304328.5_Nonsense_Mutation_p.Y1049*|USP6_ENST00000250066.6_Nonsense_Mutation_p.Y1366*			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	1366	USP.				cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TTCTTTTCTATGAGCAGCAGG	0.428			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																	uc002gau.1				Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	"""COL1A1, CDH11, ZNF9, OMD"""		aneurysmal bone cysts		0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(4096-4098)taT>taA		Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.							140.0	129.0	133.0					17																	5076150		2203	4297	6500	SO:0001587	stop_gained	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5076150T>A	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"""Ubiquitin-specific peptidases"""	12629	protein-coding gene	gene with protein product	"""ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene"""	604334	"""ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)"""	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.4098T>A	17.37:g.5076150T>A	ENSP00000460380:p.Tyr1366*		Somatic				USP6_uc002gav.1_Nonsense_Mutation_p.Y1366*|USP6_uc010ckz.1_Nonsense_Mutation_p.Y1049*	p.Y1366*	NM_004505	NP_004496	WXS	Illumina GAIIx	Phase_I	P35125	UBP6_HUMAN			37	6328	+			1366					Q15634|Q86WP6|Q8IWT4	Nonsense_Mutation	SNP	ENST00000574788.1	37	c.4098T>A	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	T	52	19.007308	0.99913	.	.	ENSG00000129204	ENST00000250066;ENST00000304328	.	.	.	2.35	1.25	0.21368	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.584	0.07963	0.0:0.355:0.0:0.645	.	.	.	.	X	1366;1049	.	ENSP00000250066:Y1366X	Y	+	3	2	USP6	5016874	0.994000	0.37717	1.000000	0.80357	0.491000	0.33493	0.327000	0.19663	1.080000	0.41073	0.155000	0.16302	TAT		0.428	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		44	115	0	0	0	1	0	44	115				
UBP1	7342	broad.mit.edu	37	3	33451063	33451063	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr3:33451063G>A	ENST00000283629.3	-	6	1115	c.586C>T	c.(586-588)Cgg>Tgg	p.R196W	UBP1_ENST00000283628.5_Missense_Mutation_p.R196W|UBP1_ENST00000486388.1_5'Flank|UBP1_ENST00000447368.2_Missense_Mutation_p.R196W	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	196					angiogenesis (GO:0001525)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						CCGTGCTTCCGTGGAGTAAAT	0.418																																						uc003cfq.4																			0				breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						c.(586-588)Cgg>Tgg		Homo sapiens upstream binding protein 1 (LBP-1a) (UBP1), transcript variant 1, mRNA.							110.0	106.0	107.0					3																	33451063		2203	4300	6503	SO:0001583	missense	7342				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr3:33451063G>A	AF198487	CCDS2659.1, CCDS46788.1	3p22.3	2004-03-02			ENSG00000153560	ENSG00000153560			12507	protein-coding gene	gene with protein product		609784				8114710	Standard	NM_014517		Approved	LBP-1a	uc010hga.3	Q9NZI7	OTTHUMG00000130749	ENST00000283629.3:c.586C>T	3.37:g.33451063G>A	ENSP00000283629:p.Arg196Trp		Somatic				UBP1_uc003cfr.4_Missense_Mutation_p.R196W|UBP1_uc010hga.3_Missense_Mutation_p.R196W	p.R196W	NM_014517	NP_055332	WXS	Illumina GAIIx	Phase_I	Q9NZI7	UBIP1_HUMAN			5	1116	-			196					Q68CT0|Q86Y57|Q9H8V0|Q9UD76|Q9UD78	Missense_Mutation	SNP	ENST00000283629.3	37	c.586C>T	CCDS2659.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.040841	0.55003	.	.	ENSG00000153560	ENST00000283629;ENST00000447368;ENST00000283628	T;T;T	0.18810	2.19;2.19;2.19	6.17	5.3	0.74995	CP2 transcription factor (1);	0.000000	0.85682	D	0.000000	T	0.40322	0.1112	M	0.85710	2.77	0.80722	D	1	B;P	0.43542	0.333;0.81	B;P	0.46299	0.061;0.511	T	0.49661	-0.8916	10	0.87932	D	0	-12.0005	17.0755	0.86585	0.0:0.0:0.872:0.1279	.	196;196	Q9NZI7-4;Q9NZI7	.;UBIP1_HUMAN	W	196	ENSP00000283629:R196W;ENSP00000395558:R196W;ENSP00000283628:R196W	ENSP00000283628:R196W	R	-	1	2	UBP1	33426067	0.999000	0.42202	0.997000	0.53966	0.992000	0.81027	2.631000	0.46502	1.609000	0.50190	0.655000	0.94253	CGG		0.418	UBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253249.2	NM_014517		22	86	0	0	0	1	0	22	86				
NLRC4	58484	broad.mit.edu	37	2	32477651	32477651	+	Silent	SNP	C	C	G			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr2:32477651C>G	ENST00000404025.2	-	4	587	c.99G>C	c.(97-99)ctG>ctC	p.L33L	NLRC4_ENST00000402280.1_Silent_p.L33L|NLRC4_ENST00000342905.6_Silent_p.L33L|NLRC4_ENST00000360906.5_Silent_p.L33L			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	33	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CTTCGCGATTCAGAACATTCC	0.403																																						uc002roi.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16						c.(97-99)ctG>ctC		Homo sapiens NLR family, CARD domain containing 4 (NLRC4), transcript variant 2, mRNA.							159.0	145.0	149.0					2																	32477651		2203	4300	6503	SO:0001819	synonymous_variant	58484				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	g.chr2:32477651C>G	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.99G>C	2.37:g.32477651C>G			Somatic				NLRC4_uc021vfq.1_Silent_p.L33L|NLRC4_uc002roj.2_Silent_p.L33L|NLRC4_uc010ezt.2_Silent_p.L33L	p.L33L	NM_001199138	NP_001186067	WXS	Illumina GAIIx	Phase_I	Q9NPP4	NLRC4_HUMAN			2	360	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		33			CARD.		A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Silent	SNP	ENST00000404025.2	37	c.99G>C	CCDS33174.1																																																																																				0.403	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		3	166	0	0	0	1	0	3	166				
ACACB	32	broad.mit.edu	37	12	109650693	109650693	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr12:109650693G>A	ENST00000338432.7	+	22	3421	c.3302G>A	c.(3301-3303)cGa>cAa	p.R1101Q	ACACB_ENST00000377848.3_Missense_Mutation_p.R1101Q|ACACB_ENST00000377854.5_Missense_Mutation_p.R1101Q			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1101					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	AAGGCTGATCGAGAGGTCTTC	0.542																																						uc001tob.3																			0				NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(3301-3303)cGa>cAa		Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	Biotin(DB00121)						204.0	179.0	187.0					12																	109650693		2203	4300	6503	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109650693G>A	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.3302G>A	12.37:g.109650693G>A	ENSP00000341044:p.Arg1101Gln		Somatic				ACACB_uc001toc.3_Missense_Mutation_p.R1101Q	p.R1101Q	NM_001093	NP_001084	WXS	Illumina GAIIx	Phase_I	O00763	ACACB_HUMAN			21	3421	+			1101					A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.3302G>A	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.587522	0.86851	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027	T;T;T	0.47177	0.85;0.85;0.85	5.48	5.48	0.80851	Acetyl-CoA carboxylase, central domain (1);	0.000000	0.85682	D	0.000000	T	0.65770	0.2723	L	0.52206	1.635	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.64685	-0.6349	10	0.54805	T	0.06	.	19.7462	0.96252	0.0:0.0:1.0:0.0	.	1101	O00763	ACACB_HUMAN	Q	1101;1101;1101;332	ENSP00000341044:R1101Q;ENSP00000367079:R1101Q;ENSP00000367085:R1101Q	ENSP00000341044:R1101Q	R	+	2	0	ACACB	108135076	1.000000	0.71417	0.973000	0.42090	0.927000	0.56198	9.756000	0.98918	2.736000	0.93811	0.655000	0.94253	CGA		0.542	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		50	121	0	0	0	1	0	50	121				
PCDHA3	56145	broad.mit.edu	37	5	140181378	140181378	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr5:140181378A>G	ENST00000522353.2	+	1	596	c.596A>G	c.(595-597)aAt>aGt	p.N199S	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.N199S|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	199	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGAAAAAAAATTTAAATCGA	0.368																																						uc003lhf.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(595-597)aAt>aGt		Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.							58.0	60.0	60.0					5																	140181378		2203	4300	6503	SO:0001583	missense	56134				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140181378A>G	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.596A>G	5.37:g.140181378A>G	ENSP00000429808:p.Asn199Ser		Somatic				PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.N199S	p.N199S	NM_018906	NP_061729	WXS	Illumina GAIIx	Phase_I	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	596	+			214			Cadherin 2.		O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.596A>G	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	a	0.001	-3.014999	0.00042	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.50813	0.73;0.73	4.86	-1.92	0.07618	Cadherin (4);Cadherin-like (1);	1.577750	0.04326	U	0.351602	T	0.12475	0.0303	N	0.00237	-1.79	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.26503	-1.0101	10	0.07990	T	0.79	.	6.2978	0.21095	0.1653:0.5433:0.0:0.2914	.	199;199	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	S	199	ENSP00000429808:N199S;ENSP00000434086:N199S	ENSP00000429808:N199S	N	+	2	0	PCDHA3	140161562	0.000000	0.05858	0.028000	0.17463	0.016000	0.09150	-1.491000	0.02302	-0.250000	0.09555	-0.691000	0.03719	AAT		0.368	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		3	107	0	0	0	1	0	3	107				
WSCD1	23302	broad.mit.edu	37	17	6014123	6014123	+	Missense_Mutation	SNP	A	A	C			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr17:6014123A>C	ENST00000574946.1	+	7	1432	c.1042A>C	c.(1042-1044)Aac>Cac	p.N348H	WSCD1_ENST00000574232.1_Missense_Mutation_p.N348H|WSCD1_ENST00000539421.1_Missense_Mutation_p.N348H|WSCD1_ENST00000317744.5_Missense_Mutation_p.N348H|WSCD1_ENST00000573634.1_Missense_Mutation_p.N232H			Q658N2	WSCD1_HUMAN	WSC domain containing 1	348						integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						GTTCCTGCCTAACAAATCCAA	0.493																																						uc010cli.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						c.(1042-1044)Aac>Cac		Homo sapiens WSC domain containing 1 (WSCD1), mRNA.							241.0	234.0	236.0					17																	6014123		2203	4300	6503	SO:0001583	missense	23302					integral to membrane	sulfotransferase activity	g.chr17:6014123A>C		CCDS32538.1	17p13.2	2008-02-05				ENSG00000179314			29060	protein-coding gene	gene with protein product							Standard	XM_005256572		Approved	KIAA0523	uc002gcn.3	Q658N2		ENST00000574946.1:c.1042A>C	17.37:g.6014123A>C	ENSP00000460825:p.Asn348His		Somatic				WSCD1_uc002gcn.3_Missense_Mutation_p.N348H|WSCD1_uc002gco.3_Missense_Mutation_p.N348H|WSCD1_uc010clj.3_Missense_Mutation_p.N39H	p.N348H	NM_015253	NP_056068	WXS	Illumina GAIIx	Phase_I	Q658N2	WSCD1_HUMAN			6	1421	+			348					A8K0N8|D3DTM3|O60276|Q96G45	Missense_Mutation	SNP	ENST00000574946.1	37	c.1042A>C	CCDS32538.1	.	.	.	.	.	.	.	.	.	.	A	12.48	1.951663	0.34471	.	.	ENSG00000179314	ENST00000317744;ENST00000539421	T;T	0.31510	1.49;1.49	5.66	-1.23	0.09465	.	0.921371	0.09494	N	0.794513	T	0.17109	0.0411	L	0.27053	0.805	0.09310	N	1	B	0.24368	0.102	B	0.24541	0.054	T	0.28996	-1.0026	10	0.45353	T	0.12	-11.4931	1.9699	0.03404	0.5349:0.1237:0.2214:0.1201	.	348	Q658N2	WSCD1_HUMAN	H	348	ENSP00000323087:N348H;ENSP00000446032:N348H	ENSP00000323087:N348H	N	+	1	0	WSCD1	5954847	0.245000	0.23899	0.893000	0.35052	0.979000	0.70002	1.548000	0.36201	0.039000	0.15632	0.528000	0.53228	AAC		0.493	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438965.4	NM_015253		7	327	0	0	0	1	0	7	327				
ZNF746	155061	broad.mit.edu	37	7	149171562	149171562	+	Silent	SNP	G	G	A			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr7:149171562G>A	ENST00000340622.3	-	7	2128	c.1848C>T	c.(1846-1848)tcC>tcT	p.S616S	ZNF746_ENST00000458143.2_Silent_p.S617S			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	616					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			AAGGTCCTTTGGAGGCGGGGC	0.687																																						uc010lpi.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1849-1851)tcC>tcT		Homo sapiens zinc finger protein 746 (ZNF746), transcript variant 1, mRNA.							33.0	33.0	33.0					7																	149171562		2200	4298	6498	SO:0001819	synonymous_variant	155061				negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	g.chr7:149171562G>A	AK055975	CCDS5897.1, CCDS55180.1	7q36.1	2013-01-08			ENSG00000181220	ENSG00000181220		"""Zinc fingers, C2H2-type"", ""-"""	21948	protein-coding gene	gene with protein product		613914					Standard	NM_152557		Approved	FLJ31413	uc010lpi.2	Q6NUN9	OTTHUMG00000158972	ENST00000340622.3:c.1848C>T	7.37:g.149171562G>A			Somatic				ZNF746_uc003wfw.2_Silent_p.S616S	p.S617S	NM_001163474	NP_001156946	WXS	Illumina GAIIx	Phase_I	Q6NUN9	ZN746_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		6	2122	-	Melanoma(164;0.165)		616					A8K6Z9|Q6ZRF9	Silent	SNP	ENST00000340622.3	37	c.1851C>T	CCDS5897.1																																																																																				0.687	ZNF746-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352730.1	NM_152557		13	15	0	0	0	1	0	13	15				
AGGF1	55109	broad.mit.edu	37	5	76331518	76331518	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr5:76331518A>G	ENST00000312916.7	+	3	848	c.466A>G	c.(466-468)Aca>Gca	p.T156A	AGGF1_ENST00000506806.1_Missense_Mutation_p.T156A|AGGF1_ENST00000503538.1_3'UTR	NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	156					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|RNA processing (GO:0006396)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	nucleic acid binding (GO:0003676)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		TACCGATAGAACAGAAAATGT	0.353																																						uc003ket.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20						c.(466-468)Aca>Gca		Homo sapiens angiogenic factor with G patch and FHA domains 1 (AGGF1), mRNA.							92.0	92.0	92.0					5																	76331518		2203	4300	6503	SO:0001583	missense	55109				RNA processing|angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding	g.chr5:76331518A>G	AK001145	CCDS4035.1	5q13.3	2013-10-11			ENSG00000164252	ENSG00000164252		"""G patch domain containing"""	24684	protein-coding gene	gene with protein product		608464				18564129, 17103452	Standard	NM_018046		Approved	VG5Q, HSU84971, FLJ10283, GPATC7, GPATCH7	uc003ket.3	Q8N302	OTTHUMG00000102132	ENST00000312916.7:c.466A>G	5.37:g.76331518A>G	ENSP00000316109:p.Thr156Ala		Somatic				AGGF1_uc003kes.3_Missense_Mutation_p.T156A|AGGF1_uc003keu.1_Non-coding_Transcript	p.T156A	NM_018046	NP_060516	WXS	Illumina GAIIx	Phase_I	Q8N302	AGGF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)	2	848	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	156					O00581|Q53YS3|Q9BU84|Q9NW66	Missense_Mutation	SNP	ENST00000312916.7	37	c.466A>G	CCDS4035.1	.	.	.	.	.	.	.	.	.	.	A	8.141	0.785192	0.16189	.	.	ENSG00000164252	ENST00000312916;ENST00000506806	T;T	0.78816	1.2;-1.21	5.75	3.23	0.37069	.	0.797682	0.12034	N	0.505702	T	0.63402	0.2508	L	0.29908	0.895	0.09310	N	1	B;B	0.17268	0.005;0.021	B;B	0.23419	0.006;0.046	T	0.47169	-0.9138	10	0.12430	T	0.62	-4.8762	6.8657	0.24093	0.7952:0.0:0.0717:0.1331	.	156;156	Q8N302;Q8N302-3	AGGF1_HUMAN;.	A	156	ENSP00000316109:T156A;ENSP00000424733:T156A	ENSP00000316109:T156A	T	+	1	0	AGGF1	76367274	0.000000	0.05858	0.009000	0.14445	0.247000	0.25773	1.015000	0.29963	0.385000	0.24970	0.528000	0.53228	ACA		0.353	AGGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219971.2	NM_018046		18	70	0	0	0	1	0	18	70				
PCDH15	65217	broad.mit.edu	37	10	55782771	55782771	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr10:55782771G>C	ENST00000320301.6	-	19	2801	c.2407C>G	c.(2407-2409)Cta>Gta	p.L803V	PCDH15_ENST00000395438.1_Missense_Mutation_p.L803V|PCDH15_ENST00000373955.1_Missense_Mutation_p.L803V|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.L781V|PCDH15_ENST00000437009.1_Missense_Mutation_p.L732V|PCDH15_ENST00000409834.1_Missense_Mutation_p.L414V|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.L803V|PCDH15_ENST00000414778.1_Missense_Mutation_p.L808V|PCDH15_ENST00000395432.2_Missense_Mutation_p.L766V|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.L810V|PCDH15_ENST00000373965.2_Missense_Mutation_p.L810V|PCDH15_ENST00000395430.1_Missense_Mutation_p.L803V|PCDH15_ENST00000395442.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	803	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.L808I(1)|p.L803I(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GCCAAGGTTAGAGTTGAATGA	0.443										HNSCC(58;0.16)																												uc010qhy.1																			2	Substitution - Missense(2)	p.L808I(1)|p.L803I(1)	pancreas(2)	NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(2422-2424)Cta>Gta		Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.							198.0	177.0	184.0					10																	55782771		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55782771G>C	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.2407C>G	10.37:g.55782771G>C	ENSP00000322604:p.Leu803Val	HNSCC(58;0.16)	Somatic				PCDH15_uc010qhq.2_Missense_Mutation_p.L808V|PCDH15_uc010qhr.2_Missense_Mutation_p.L803V|PCDH15_uc021pqv.1_Missense_Mutation_p.L803V|PCDH15_uc021pqw.1_Missense_Mutation_p.L815V|PCDH15_uc010qht.2_Missense_Mutation_p.L810V|PCDH15_uc021pqx.1_Missense_Mutation_p.L803V|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.L803V|PCDH15_uc021pqz.1_Missense_Mutation_p.L781V|PCDH15_uc010qhv.1_Missense_Mutation_p.L803V|PCDH15_uc010qhw.1_Missense_Mutation_p.L766V|PCDH15_uc010qhx.1_Missense_Mutation_p.L732V|PCDH15_uc010qhz.1_Missense_Mutation_p.L803V|PCDH15_uc010qia.1_Missense_Mutation_p.L781V|PCDH15_uc001jju.1_Missense_Mutation_p.L803V|PCDH15_uc010qib.1_Missense_Mutation_p.L781V|PCDH15_uc001jjw.3_Missense_Mutation_p.L803V	p.L808V	NM_001142763	NP_001136235	WXS	Illumina GAIIx	Phase_I	Q96QU1	PCD15_HUMAN			19	2817	-		Melanoma(3;0.117)|Lung SC(717;0.238)	803			Cadherin 7.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.2422C>G	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	1.296	-0.606256	0.03717	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7	5.67	-0.106	0.13596	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.29945	0.0749	N	0.03294	-0.36	0.09310	N	0.999997	P;B;P;B;P;P;P;P;P;D;B;P;B;B	0.54601	0.484;0.09;0.694;0.022;0.479;0.484;0.484;0.935;0.943;0.967;0.418;0.89;0.3;0.09	P;B;P;B;B;P;P;P;P;P;B;P;B;B	0.58391	0.517;0.148;0.517;0.091;0.26;0.517;0.517;0.734;0.733;0.838;0.206;0.596;0.106;0.189	T	0.14615	-1.0466	9	0.14656	T	0.56	.	2.6737	0.05075	0.1747:0.1024:0.4131:0.3097	.	781;803;803;808;732;766;803;803;810;810;803;808;803;803	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	V	810;808;803;803;414;810;766;803;781;803;803;808;732;803	ENSP00000363076:L810V;ENSP00000410304:L808V;ENSP00000378826:L803V;ENSP00000386693:L414V;ENSP00000378832:L810V;ENSP00000378820:L766V;ENSP00000354950:L803V;ENSP00000378821:L781V;ENSP00000322604:L803V;ENSP00000378818:L803V;ENSP00000412628:L732V;ENSP00000363066:L803V	ENSP00000322604:L803V	L	-	1	2	PCDH15	55452777	0.017000	0.18338	0.287000	0.24848	0.401000	0.30781	0.226000	0.17776	-0.062000	0.13088	-2.724000	0.00131	CTA		0.443	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		28	88	0	0	0	1	0	28	88				
SUPT20H	55578	broad.mit.edu	37	13	37583813	37583813	+	Missense_Mutation	SNP	A	A	C			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr13:37583813A>C	ENST00000350612.6	-	26	2556	c.2336T>G	c.(2335-2337)tTt>tGt	p.F779C	SUPT20H_ENST00000464744.1_3'UTR|SUPT20H_ENST00000360252.4_3'UTR|SUPT20H_ENST00000356185.3_3'UTR|SUPT20H_ENST00000475892.1_3'UTR	NM_001014286.2	NP_001014308.2	Q8NEM7	SP20H_HUMAN	suppressor of Ty 20 homolog (S. cerevisiae)	779					autophagy (GO:0006914)|chromatin organization (GO:0006325)|gastrulation (GO:0007369)	SAGA complex (GO:0000124)|SAGA-type complex (GO:0070461)	transcription cofactor activity (GO:0003712)										CAAGACTCAAAATTTTGGAGT	0.378																																						uc001uwg.3																			0				cervix(1)|endometrium(2)|large_intestine(6)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(2335-2337)tTt>tGt		Homo sapiens family with sequence similarity 48, member A (FAM48A), transcript variant 1, mRNA.							155.0	155.0	155.0					13																	37583813		2203	4300	6503	SO:0001583	missense	55578				autophagy|gastrulation	SAGA-type complex	protein binding	g.chr13:37583813A>C	AF093250	CCDS9362.1, CCDS31959.1, CCDS61311.1	13q13	2012-11-29	2012-11-29	2012-11-29	ENSG00000102710	ENSG00000102710			20596	protein-coding gene	gene with protein product	"""p38 interacting protein"", ""transcription factor (p38 interacting protein)"""	613417	"""chromosome 13 open reading frame 19"", ""family with sequence similarity 48, member A"""	C13orf19, FAM48A		12070015 , 16685401	Standard	NM_001278480		Approved	SPT20, bA421P11.4, P38IP	uc001uwg.3	Q8NEM7	OTTHUMG00000016747	ENST00000350612.6:c.2336T>G	13.37:g.37583813A>C	ENSP00000218894:p.Phe779Cys		Somatic				FAM48A_uc010abt.3_3'UTR|FAM48A_uc001uwh.3_3'UTR|FAM48A_uc001uwi.3_3'UTR|FAM48A_uc001uwj.3_3'UTR|FAM48A_uc001uwk.3_3'UTR|FAM48A_uc001uwd.3_3'UTR|FAM48A_uc001uwe.3_Missense_Mutation_p.F263C|FAM48A_uc001uwf.3_Missense_Mutation_p.F345C	p.F779C	NM_001014286	NP_001014308	WXS	Illumina GAIIx	Phase_I	Q8NEM7	FA48A_HUMAN		all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477)	25	2584	-		Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959)	779					E7ER46|Q71RF3|Q9Y6A6	Missense_Mutation	SNP	ENST00000350612.6	37	c.2336T>G	CCDS31959.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.602|9.602	1.128980|1.128980	0.21041|0.21041	.|.	.|.	ENSG00000102710|ENSG00000102710	ENST00000350612|ENST00000469488	T|.	0.36520|.	1.25|.	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	0.117949|0.117949	0.38837|0.38837	N|N	0.001554|0.001554	T|T	0.60715|0.60715	0.2290|0.2290	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	P|.	0.39576|.	0.679|.	B|.	0.40702|.	0.338|.	T|T	0.64449|0.64449	-0.6405|-0.6405	10|7	0.87932|0.87932	D|D	0|0	.|.	9.5838|9.5838	0.39504|0.39504	0.9159:0.0:0.0841:0.0|0.9159:0.0:0.0841:0.0	.|.	779|.	Q8NEM7|.	FA48A_HUMAN|.	C|V	779|322	ENSP00000218894:F779C|.	ENSP00000218894:F779C|ENSP00000419787:F322V	F|F	-|-	2|1	0|0	FAM48A|FAM48A	36481813|36481813	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.657000|0.657000	0.38888|0.38888	1.846000|1.846000	0.39289|0.39289	2.267000|2.267000	0.75376|0.75376	0.383000|0.383000	0.25322|0.25322	TTT|TTT		0.378	SUPT20H-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354766.1	NM_017569		58	111	0	0	0	1	0	58	111				
OR2T27	403239	broad.mit.edu	37	1	248813367	248813367	+	Silent	SNP	A	A	T			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr1:248813367A>T	ENST00000344889.3	-	1	818	c.819T>A	c.(817-819)gcT>gcA	p.A273A		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	273						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGGCAGATACAGCTTTGTCCT	0.522																																						uc010pzo.2																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32						c.(817-819)gcT>gcA		Homo sapiens olfactory receptor, family 2, subfamily T, member 27 (OR2T27), mRNA.							72.0	65.0	67.0					1																	248813367		2180	4275	6455	SO:0001819	synonymous_variant	403239				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248813367A>T		CCDS31124.1	1q44	2012-08-09			ENSG00000187701	ENSG00000187701		"""GPCR / Class A : Olfactory receptors"""	31252	protein-coding gene	gene with protein product							Standard	NM_001001824		Approved		uc010pzo.2	Q8NH04	OTTHUMG00000040376	ENST00000344889.3:c.819T>A	1.37:g.248813367A>T			Somatic					p.A273A	NM_001001824	NP_001001824	WXS	Illumina GAIIx	Phase_I	Q8NH04	O2T27_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		0	819	-	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	273						Silent	SNP	ENST00000344889.3	37	c.819T>A	CCDS31124.1																																																																																				0.522	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097124.1	NM_001001824		38	33	0	0	0	1	0	38	33				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	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		24	74	0	0	0	1	0	24	74				
NOS1	4842	broad.mit.edu	37	12	117725989	117725989	+	Missense_Mutation	SNP	G	G	T			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr12:117725989G>T	ENST00000344089.3	-	6	1758	c.1073C>A	c.(1072-1074)cCa>cAa	p.P358Q	NOS1_ENST00000317775.6_Silent_p.S339S|NOS1_ENST00000338101.4_Silent_p.S339S	NM_001204213.1|NM_001204214.1	NP_001191142.1|NP_001191143.1	Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		GATGCATGATGGAGCCCATGC	0.483																																					Esophageal Squamous(162;1748 2599 51982 52956)	uc001twn.2																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(1015-1017)tcC>tcA		Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	L-Citrulline(DB00155)						115.0	112.0	113.0					12																	117725989		1960	4164	6124	SO:0001583	missense	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117725989G>T		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000344089.3:c.1073C>A	12.37:g.117725989G>T	ENSP00000339862:p.Pro358Gln		Somatic				NOS1_uc021ren.1_Silent_p.S3S|NOS1_uc021reo.1_Silent_p.S3S|NOS1_uc001twm.2_Silent_p.S339S	p.S339S	NM_001204218	NP_001191147	WXS	Illumina GAIIx	Phase_I	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	4	1728	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		339						Silent	SNP	ENST00000344089.3	37	c.1017C>A		.	.	.	.	.	.	.	.	.	.	G	14.71	2.617219	0.46736	.	.	ENSG00000089250	ENST00000344089	T	0.09073	3.02	5.93	3.06	0.35304	.	.	.	.	.	T	0.09555	0.0235	.	.	.	0.25567	N	0.986938	.	.	.	.	.	.	T	0.31861	-0.9928	6	0.87932	D	0	-31.1613	3.2003	0.06647	0.1717:0.2277:0.4837:0.117	.	.	.	.	Q	358	ENSP00000339862:P358Q	ENSP00000339862:P358Q	P	-	2	0	NOS1	116210372	0.008000	0.16893	1.000000	0.80357	0.895000	0.52256	-0.287000	0.08388	0.380000	0.24823	0.563000	0.77884	CCA		0.483	NOS1-201	KNOWN	basic	protein_coding	protein_coding				25	50	0	0	0	1	0	25	50				
ASXL1	171023	broad.mit.edu	37	20	31022741	31022741	+	Silent	SNP	G	G	C			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr20:31022741G>C	ENST00000375687.4	+	13	2650	c.2226G>C	c.(2224-2226)ggG>ggC	p.G742G	ASXL1_ENST00000306058.5_Silent_p.G737G	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	742					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						TCACAGATGGGCTAGGAGATG	0.577			"""F, N, Mis"""		"""MDS, CMML"""																																	uc021wbw.1				Rec	yes		20	20q11.1	171023	"""F, N, Mis"""	additional sex combs like 1			L			"""MDS, CMML"""		0		p.D741V(1)|p.(574_1542)fs*?(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						c.(2224-2226)ggG>ggC		Homo sapiens additional sex combs like 1 (Drosophila) (ASXL1), transcript variant 1, mRNA.							55.0	56.0	56.0					20																	31022741		2203	4300	6503	SO:0001819	synonymous_variant	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31022741G>C	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.2226G>C	20.37:g.31022741G>C			Somatic				ASXL1_uc002wxs.3_Silent_p.G741G|ASXL1_uc010geb.3_Silent_p.G633G	p.G742G	NM_015338	NP_056153	WXS	Illumina GAIIx	Phase_I	Q8IXJ9	ASXL1_HUMAN			12	2658	+			742					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Silent	SNP	ENST00000375687.4	37	c.2226G>C	CCDS13201.1																																																																																				0.577	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		16	25	0	0	0	1	0	16	25				
FAAH	2166	broad.mit.edu	37	1	46877297	46877298	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr1:46877297_46877298delCT	ENST00000243167.8	+	12	1414_1415	c.1330_1331delCT	c.(1330-1332)ctcfs	p.L444fs		NM_001441.2	NP_001432.2	O00519	FAAH1_HUMAN	fatty acid amide hydrolase	444					fatty acid catabolic process (GO:0009062)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|organelle membrane (GO:0031090)	acylglycerol lipase activity (GO:0047372)|carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|fatty acid amide hydrolase activity (GO:0017064)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	GGCTGGAAAACTCTGGGAACTG	0.594																																						uc001cpu.2																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22						c.(1330-1332)ctcfs		Homo sapiens fatty acid amide hydrolase (FAAH), mRNA.	Propofol(DB00818)|Thiopental(DB00599)																																			SO:0001589	frameshift_variant	2166				fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity	g.chr1:46877297_46877298delCT	U82535	CCDS535.1	1p35-p34	2008-02-05			ENSG00000117480	ENSG00000117480			3553	protein-coding gene	gene with protein product		602935				9122178	Standard	NM_001441		Approved	FAAH-1	uc001cpu.2	O00519	OTTHUMG00000007811	ENST00000243167.8:c.1330_1331delCT	1.37:g.46877299_46877300delCT	ENSP00000243167:p.Leu444fs		Somatic				FAAH_uc001cpv.2_Intron	p.L444fs	NM_001441	NP_001432	WXS	Illumina GAIIx	Phase_I	O00519	FAAH1_HUMAN			11	1412_1413	+	Acute lymphoblastic leukemia(166;0.155)		444					D3DQ19|Q52M86|Q5TDF8	Frame_Shift_Del	DEL	ENST00000243167.8	37	c.1330_1331delCT	CCDS535.1																																																																																				0.594	FAAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021443.1	NM_001441		16	33						16	33	---	---	---	---
