#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SNRNP35	11066	broad.mit.edu	37	12	123950629	123950629	+	Missense_Mutation	SNP	G	G	A	rs371556636		TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr12:123950629G>A	ENST00000526639.2	+	2	1121	c.542G>A	c.(541-543)cGg>cAg	p.R181Q	SNRNP35_ENST00000527158.2_Intron|SNRNP35_ENST00000350887.5_Missense_Mutation_p.R181Q|SNRNP35_ENST00000412157.2_Missense_Mutation_p.R186Q	NM_022717.3	NP_073208.1	Q16560	U1SBP_HUMAN	small nuclear ribonucleoprotein 35kDa (U11/U12)	181	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						GAGGGAAAACGGGAAAGGCGG	0.527																																						uc021rfv.1																			0				NS(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						c.(556-558)cGg>cAg		Homo sapiens small nuclear ribonucleoprotein 35kDa (U11/U12) (SNRNP35), transcript variant 3, mRNA.		G	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	43.0	50.0	48.0		542,557	5.8	0.8	12		48	0,8600		0,0,4300	no	missense,missense	SNRNP35	NM_022717.2,NM_180699.2	43,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	181/247,186/252	123950629	1,13005	2203	4300	6503	SO:0001583	missense	11066				mRNA processing	U12-type spliceosomal complex	RNA binding|nucleotide binding	g.chr12:123950629G>A	BC054034	CCDS9249.1, CCDS45005.1	12q24.31	2013-02-12				ENSG00000184209		"""RNA binding motif (RRM) containing"""	30852	protein-coding gene	gene with protein product	"""U1 snRNP binding protein homolog"""					10520751, 8889548	Standard	XM_005253545		Approved	U1SNRNPBP	uc001ufb.1	Q16560		ENST00000526639.2:c.542G>A	12.37:g.123950629G>A	ENSP00000432595:p.Arg181Gln					SNRNP35_uc001ufb.1_Missense_Mutation_p.R181Q|SNRNP35_uc001ufc.1_Intron|SNRNP35_uc021rfw.1_Missense_Mutation_p.R181Q	p.R186Q	NM_180699	NP_073208	Q16560	U1SBP_HUMAN			1	607	+			181			Arg-rich.		A8K262|Q5XKN9	Missense_Mutation	SNP	ENST00000526639.2	37	c.557G>A	CCDS9249.1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.777966	0.49786	2.27E-4	0.0	ENSG00000184209	ENST00000526639;ENST00000412157;ENST00000350887	T;T;T	0.32753	1.45;1.44;1.45	5.76	5.76	0.90799	.	0.660738	0.14833	N	0.295745	T	0.12263	0.0298	N	0.08118	0	0.43808	D	0.996362	P;P	0.48089	0.825;0.905	B;B	0.30316	0.114;0.072	T	0.14200	-1.0481	10	0.18710	T	0.47	-16.2423	11.9133	0.52751	0.0:0.1381:0.7344:0.1275	.	186;181	Q16560-2;Q16560	.;U1SBP_HUMAN	Q	181;186;181	ENSP00000432595:R181Q;ENSP00000403310:R186Q;ENSP00000340774:R181Q	ENSP00000340774:R181Q	R	+	2	0	SNRNP35	122516582	0.999000	0.42202	0.837000	0.33122	0.928000	0.56348	4.265000	0.58865	2.753000	0.94483	0.555000	0.69702	CGG		0.527	SNRNP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395197.2	NM_007020		6	56	0	0	0	1	0	6	56				
HLA-DOA	3111	broad.mit.edu	37	6	32974902	32974902	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr6:32974902C>A	ENST00000229829.5	-	4	779	c.704G>T	c.(703-705)gGc>gTc	p.G235V	HLA-DOA_ENST00000495532.1_5'Flank|HLA-DOA_ENST00000450833.2_Intron	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	235					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|negative regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002587)|regulation of T cell differentiation (GO:0045580)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)	MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						GAGGACGGTGCCCACGAGGAA	0.627																																						uc003ocr.3																			0				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						c.(703-705)gGc>gTc		Homo sapiens major histocompatibility complex, class II, DO alpha (HLA-DOA), mRNA.							60.0	64.0	63.0					6																	32974902		2203	4300	6503	SO:0001583	missense	3111				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	MHC class II protein complex|endosome membrane|integral to membrane|lysosomal membrane	MHC class II receptor activity	g.chr6:32974902C>A	M31525	CCDS4763.1	6p21.3	2013-01-11		2001-10-05	ENSG00000204252	ENSG00000204252		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4936	protein-coding gene	gene with protein product		142930		HLA-DZA, HLA-DNA		2370084	Standard	XM_005272804		Approved	HLA-D0-alpha	uc003ocr.3	P06340	OTTHUMG00000031211	ENST00000229829.5:c.704G>T	6.37:g.32974902C>A	ENSP00000229829:p.Gly235Val					HLA-DOA_uc010juj.3_Intron|HLA-DOA_uc010jui.3_3'UTR	p.G235V	NM_002119	NP_002110	P06340	DOA_HUMAN			3	780	-			235					Q58HU0|Q58HU1|Q5STC7|Q9TQC6|Q9TQC7|Q9TQC8|Q9TQC9|Q9TQD0|Q9TQD1|Q9TQD2|Q9TQD3	Missense_Mutation	SNP	ENST00000229829.5	37	c.704G>T	CCDS4763.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.298878	0.81025	.	.	ENSG00000204252	ENST00000229829	T	0.09255	3.0	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.34483	0.0899	M	0.91612	3.225	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.39461	-0.9613	10	0.87932	D	0	.	15.7771	0.78232	0.0:1.0:0.0:0.0	.	235	P06340	DOA_HUMAN	V	235	ENSP00000229829:G235V	ENSP00000229829:G235V	G	-	2	0	HLA-DOA	33082880	1.000000	0.71417	0.999000	0.59377	0.925000	0.55904	5.282000	0.65615	2.654000	0.90174	0.650000	0.86243	GGC		0.627	HLA-DOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076426.2	NM_002119		4	77	0	0	0	1	0	4	77				
PPEF1	5475	broad.mit.edu	37	X	18748426	18748426	+	Splice_Site	SNP	G	G	T			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chrX:18748426G>T	ENST00000361511.4	+	5	668	c.174G>T	c.(172-174)caG>caT	p.Q58H	PPEF1_ENST00000349874.5_Splice_Site_p.Q58H|PPEF1_ENST00000544635.1_Intron|PPEF1_ENST00000359763.6_Splice_Site_p.Q58H|PPEF1_ENST00000543630.1_Splice_Site_p.Q58H|PPEF1_ENST00000471570.1_3'UTR	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	58					detection of stimulus involved in sensory perception (GO:0050906)|phototransduction, visible light (GO:0007603)|protein dephosphorylation (GO:0006470)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					GCCAAATGCAGGTCTGTTTTG	0.423																																						uc004cyq.3																			0				breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43						c.e5+1		Homo sapiens protein phosphatase, EF-hand calcium binding domain 1 (PPEF1), transcript variant 1, mRNA.							223.0	172.0	189.0					X																	18748426		2203	4300	6503	SO:0001630	splice_region_variant	5475				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	g.chrX:18748426G>T	BC036026	CCDS14188.1, CCDS43920.1	Xp22	2013-01-10			ENSG00000086717	ENSG00000086717		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9243	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, alpha isozyme"""	300109		PPEF		9215685, 9326663	Standard	NM_152224		Approved	PPP7CA	uc004cyq.3	O14829	OTTHUMG00000021219	ENST00000361511.4:c.174+1G>T	X.37:g.18748426G>T						PPEF1_uc004cyp.3_Splice_Site_p.Q58_splice|PPEF1_uc004cyr.3_Splice_Site_p.Q58_splice|PPEF1_uc004cys.3_Splice_Site_p.Q58_splice|PPEF1_uc011mja.2_Intron|PPEF1_uc011mjb.2_Splice_Site_p.Q2_splice	p.Q58_splice	NM_006240	NP_006231	O14829	PPE1_HUMAN			5	655	+	Hepatocellular(33;0.183)		58					A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0	Splice_Site	SNP	ENST00000361511.4	37	c.174_splice	CCDS14188.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047001	0.75846	.	.	ENSG00000086717	ENST00000361511;ENST00000359763;ENST00000349874;ENST00000543630	T;T;T;T	0.25414	3.15;2.97;3.0;1.8	5.72	5.72	0.89469	.	0.000000	0.51477	D	0.000099	T	0.50548	0.1622	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.998	T	0.50398	-0.8833	10	0.72032	D	0.01	-10.6144	17.5039	0.87739	0.0:0.0:1.0:0.0	.	58;58;58	O14829-5;O14829;O14829-3	.;PPE1_HUMAN;.	H	58	ENSP00000354871:Q58H;ENSP00000352806:Q58H;ENSP00000341892:Q58H;ENSP00000437785:Q58H	ENSP00000341892:Q58H	Q	+	3	2	PPEF1	18658347	1.000000	0.71417	1.000000	0.80357	0.677000	0.39632	8.525000	0.90583	2.403000	0.81681	0.506000	0.49869	CAG		0.423	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055953.3	NM_006240	Missense_Mutation	73	110	0	0	0	1	0	73	110				
NEMF	9147	broad.mit.edu	37	14	50318332	50318332	+	Silent	SNP	T	T	C			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr14:50318332T>C	ENST00000298310.5	-	3	629	c.180A>G	c.(178-180)acA>acG	p.T60T	RN7SL3_ENST00000578231.1_RNA|NEMF_ENST00000546046.1_Silent_p.T60T|NEMF_ENST00000556672.1_Silent_p.T60T|NEMF_ENST00000545773.1_Silent_p.T60T			O60524	NEMF_HUMAN	nuclear export mediator factor	60					nuclear export (GO:0051168)	nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						CAAATTCTGTTGTATGAATTC	0.358																																						uc010anj.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(178-180)acA>acG		Homo sapiens nuclear export mediator factor (NEMF), mRNA.							114.0	113.0	113.0					14																	50318332		2203	4300	6503	SO:0001819	synonymous_variant	9147					cytoplasm|nucleus		g.chr14:50318332T>C	AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525			10663	protein-coding gene	gene with protein product		608378	"""serologically defined colon cancer antigen 1"""	SDCCAG1		9610721, 10575219	Standard	XR_429334		Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.180A>G	14.37:g.50318332T>C						NEMF_uc001wxc.3_Silent_p.T60T|NEMF_uc010tqi.2_Silent_p.T60T|NEMF_uc001wxe.2_Silent_p.T60T|NEMF_uc010anq.1_5'UTR	p.T60T	NM_004713	NP_004704	O60524	NEMF_HUMAN			2	248	-			60					A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Silent	SNP	ENST00000298310.5	37	c.180A>G	CCDS9694.1																																																																																				0.358	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410798.1	NM_004713		3	47	0	0	0	1	0	3	47				
FLNC	2318	broad.mit.edu	37	7	128478773	128478773	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr7:128478773G>A	ENST00000325888.8	+	8	1588	c.1327G>A	c.(1327-1329)Gcc>Acc	p.A443T	FLNC_ENST00000346177.6_Missense_Mutation_p.A443T	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	443					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						ATACAGACCTGCCATGGAGGG	0.632																																						uc003vnz.4																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(1327-1329)Gcc>Acc		Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.							87.0	97.0	94.0					7																	128478773		2118	4215	6333	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128478773G>A	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.1327G>A	7.37:g.128478773G>A	ENSP00000327145:p.Ala443Thr					FLNC_uc003voa.4_Missense_Mutation_p.A443T	p.A443T	NM_001458	NP_001449	Q14315	FLNC_HUMAN			7	1536	+			443					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.1327G>A	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	G	8.108	0.778127	0.16120	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.84370	-1.84;-1.84	4.9	4.02	0.46733	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.496053	0.20614	N	0.088919	T	0.48589	0.1508	N	0.00138	-2.015	0.21740	N	0.999569	B;B	0.15930	0.015;0.0	B;B	0.17979	0.02;0.001	T	0.53012	-0.8498	10	0.02654	T	1	.	8.4819	0.33047	0.1777:0.0:0.8223:0.0	.	443;443	Q14315-2;Q14315	.;FLNC_HUMAN	T	443	ENSP00000327145:A443T;ENSP00000344002:A443T	ENSP00000327145:A443T	A	+	1	0	FLNC	128266009	0.993000	0.37304	0.977000	0.42913	0.966000	0.64601	2.365000	0.44196	1.272000	0.44329	0.561000	0.74099	GCC		0.632	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			38	90	0	0	0	1	0	38	90				
MYOM1	8736	broad.mit.edu	37	18	3102502	3102502	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr18:3102502G>A	ENST00000356443.4	-	23	3878	c.3545C>T	c.(3544-3546)cCa>cTa	p.P1182L	MYOM1_ENST00000261606.7_Missense_Mutation_p.P1086L|MYOM1_ENST00000400569.3_Missense_Mutation_p.P1182L	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1182	Ig-like C2-type 3.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TTCCAATCGTGGAGAGTCCTC	0.433																																						uc002klp.3																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(3544-3546)cCa>cTa		Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.							215.0	209.0	211.0					18																	3102502		1896	4130	6026	SO:0001583	missense	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3102502G>A	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.3545C>T	18.37:g.3102502G>A	ENSP00000348821:p.Pro1182Leu					MYOM1_uc002klq.3_Missense_Mutation_p.P1086L	p.P1182L	NM_003803	NP_003794	P52179	MYOM1_HUMAN			22	3879	-			1182			Ig-like C2-type 3.		Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	c.3545C>T	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	G	11.02	1.517412	0.27123	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.66815	-0.23;-0.23;-0.23	5.46	5.46	0.80206	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.168819	0.53938	D	0.000044	T	0.60637	0.2284	L	0.29908	0.895	0.47698	D	0.999496	P;P	0.43857	0.819;0.461	B;B	0.42798	0.398;0.232	T	0.59542	-0.7435	10	0.33141	T	0.24	.	19.3	0.94140	0.0:0.0:1.0:0.0	.	1086;1182	P52179-2;P52179	.;MYOM1_HUMAN	L	1182;1182;1086	ENSP00000348821:P1182L;ENSP00000383413:P1182L;ENSP00000261606:P1086L	ENSP00000261606:P1086L	P	-	2	0	MYOM1	3092502	0.995000	0.38212	0.430000	0.26722	0.089000	0.18198	5.406000	0.66357	2.554000	0.86153	0.557000	0.71058	CCA		0.433	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		25	110	0	0	0	1	0	25	110				
OR5B3	441608	broad.mit.edu	37	11	58170795	58170795	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr11:58170795G>A	ENST00000309403.2	-	1	87	c.88C>T	c.(88-90)Ccc>Tcc	p.P30S		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	30			P -> L (in dbSNP:rs17152661).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TAGATGAAGGGGAACGTTATA	0.398																																						uc010rkf.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34						c.(88-90)Ccc>Tcc		Homo sapiens olfactory receptor, family 5, subfamily B, member 3 (OR5B3), mRNA.							123.0	120.0	121.0					11																	58170795		2201	4295	6496	SO:0001583	missense	441608				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58170795G>A	AB065545	CCDS31549.1	11q12.1	2012-08-09			ENSG00000172769	ENSG00000172769		"""GPCR / Class A : Olfactory receptors"""	8324	protein-coding gene	gene with protein product				OR5B13			Standard	NM_001005469		Approved	OST129	uc010rkf.2	Q8NH48	OTTHUMG00000167516	ENST00000309403.2:c.88C>T	11.37:g.58170795G>A	ENSP00000308270:p.Pro30Ser						p.P30S	NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN			0	88	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	30		P -> L (in dbSNP:rs17152661).			Q6IEV6	Missense_Mutation	SNP	ENST00000309403.2	37	c.88C>T	CCDS31549.1	.	.	.	.	.	.	.	.	.	.	g	0.922	-0.715523	0.03206	.	.	ENSG00000172769	ENST00000309403	T	0.00575	6.46	4.19	-0.703	0.11261	.	0.966290	0.08466	N	0.941653	T	0.00241	0.0007	N	0.00385	-1.57	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40850	-0.9541	10	0.54805	T	0.06	-12.056	6.2218	0.20685	0.1951:0.0:0.4523:0.3526	.	30	Q8NH48	OR5B3_HUMAN	S	30	ENSP00000308270:P30S	ENSP00000308270:P30S	P	-	1	0	OR5B3	57927371	0.000000	0.05858	0.017000	0.16124	0.001000	0.01503	-0.190000	0.09615	-0.196000	0.10366	-1.160000	0.01791	CCC		0.398	OR5B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394886.1	NM_001005469		5	126	0	0	0	1	0	5	126				
TMPRSS15	5651	broad.mit.edu	37	21	19770630	19770630	+	Silent	SNP	C	C	T			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr21:19770630C>T	ENST00000284885.3	-	2	195	c.162G>A	c.(160-162)caG>caA	p.Q54Q		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	54	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CTTCATGACTCTGTCCAAGTG	0.343																																						uc002ykw.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						c.(160-162)caG>caA		Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.							70.0	72.0	71.0					21																	19770630		2203	4300	6503	SO:0001819	synonymous_variant	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19770630C>T		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.162G>A	21.37:g.19770630C>T							p.Q54Q	NM_002772	NP_002763	P98073	ENTK_HUMAN			1	193	-			54			SEA.		Q2NKL7	Silent	SNP	ENST00000284885.3	37	c.162G>A	CCDS13571.1																																																																																				0.343	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		4	67	0	0	0	1	0	4	67				
MTHFD1	4522	broad.mit.edu	37	14	64908830	64908830	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr14:64908830C>T	ENST00000545908.1	+	20	2340	c.2111C>T	c.(2110-2112)tCc>tTc	p.S704F	MTHFD1_ENST00000216605.8_Missense_Mutation_p.S648F|CTD-2555O16.4_ENST00000609125.1_RNA|CTD-2555O16.2_ENST00000556640.1_RNA			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	648	Formyltetrahydrofolate synthetase.				folic acid metabolic process (GO:0046655)|folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity (GO:0004486)			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	Tetrahydrofolic acid(DB00116)	GGCAATTCCTCCATCATTGCA	0.498																																					Colon(18;220 581 13419 18191 31512)|GBM(126;343 1658 28700 44425 52519)	uc010aqf.3																			0		p.L704L(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30						c.(2110-2112)tCc>tTc		Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase (MTHFD1), mRNA.	NADH(DB00157)|Tetrahydrofolic acid(DB00116)						115.0	101.0	106.0					14																	64908830		2203	4300	6503	SO:0001583	missense	4522				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding	g.chr14:64908830C>T	J04031	CCDS9763.1	14q24	2004-12-13			ENSG00000100714	ENSG00000100714	1.5.1.15, 3.5.4.-		7432	protein-coding gene	gene with protein product		172460		MTHFC, MTHFD		3053686, 2786332	Standard	NM_005956		Approved		uc001xhb.3	P11586	OTTHUMG00000141309	ENST00000545908.1:c.2111C>T	14.37:g.64908830C>T	ENSP00000438588:p.Ser704Phe					MTHFD1_uc001xhb.3_Missense_Mutation_p.S648F	p.S704F	NM_005956	NP_005947	P11586	C1TC_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	19	2330	+			648			Formyltetrahydrofolate synthetase.		B2R5Y2|G3V2B8|Q86VC9|Q9BVP5	Missense_Mutation	SNP	ENST00000545908.1	37	c.2111C>T		.	.	.	.	.	.	.	.	.	.	C	19.88	3.909120	0.72868	.	.	ENSG00000100714	ENST00000545908;ENST00000555709;ENST00000216605	T;T;T	0.38077	1.16;1.16;1.16	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.79522	0.4460	H	0.99435	4.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.87693	0.2555	10	0.87932	D	0	-14.4291	20.5827	0.99408	0.0:1.0:0.0:0.0	.	704;648	F5H2F4;G3V2B8	.;.	F	704;648;704	ENSP00000438588:S704F;ENSP00000450560:S648F;ENSP00000216605:S704F	ENSP00000216605:S648F	S	+	2	0	MTHFD1	63978583	1.000000	0.71417	0.973000	0.42090	0.085000	0.17905	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	TCC		0.498	MTHFD1-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000412167.1			4	46	0	0	0	1	0	4	46				
TYR	7299	broad.mit.edu	37	11	88911586	88911586	+	Silent	SNP	C	C	A			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr11:88911586C>A	ENST00000263321.5	+	1	967	c.465C>A	c.(463-465)acC>acA	p.T155T	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	155			T -> S (in OCA1A). {ECO:0000269|PubMed:15146472}.		cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	CCATAGGGACCTATGGCCAAA	0.413																																						uc001pcs.3																			0		p.G154W(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(463-465)acC>acA		Homo sapiens tyrosinase (oculocutaneous albinism IA) (TYR), mRNA.	Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)						157.0	149.0	151.0					11																	88911586		2201	4299	6500	SO:0001819	synonymous_variant	7299				eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:88911586C>A	M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"""oculocutaneous albinism IA"""	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.465C>A	11.37:g.88911586C>A							p.T155T	NM_000372	NP_000363	P14679	TYRO_HUMAN			0	547	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)	155		T -> S (in OCA1A).			Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Silent	SNP	ENST00000263321.5	37	c.465C>A	CCDS8284.1																																																																																				0.413	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	NM_000372		49	74	0	0	0	1	0	49	74				
PZP	5858	broad.mit.edu	37	12	9352975	9352975	+	Missense_Mutation	SNP	A	A	C			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr12:9352975A>C	ENST00000261336.2	-	7	768	c.740T>G	c.(739-741)aTa>aGa	p.I247R	PZP_ENST00000381997.2_Missense_Mutation_p.I116R	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	247					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						ACAGACTGTTATGTTCACTTT	0.313																																					Melanoma(125;1402 1695 4685 34487 38571)	uc001qvl.3																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						c.(739-741)aTa>aGa		Homo sapiens pregnancy-zone protein (PZP), mRNA.							134.0	118.0	123.0					12																	9352975		2203	4300	6503	SO:0001583	missense	5858							g.chr12:9352975A>C	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.740T>G	12.37:g.9352975A>C	ENSP00000261336:p.Ile247Arg					PZP_uc009zgl.3_Missense_Mutation_p.I116R	p.I247R	NM_002864	NP_002855					6	769	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	37	c.740T>G	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	A	13.39	2.223219	0.39300	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.36699	1.41;1.24	3.37	3.37	0.38596	.	0.229594	0.28393	U	0.015508	T	0.44244	0.1284	L	0.43923	1.385	0.09310	N	1	D;D	0.64830	0.994;0.966	P;P	0.60789	0.879;0.492	T	0.17410	-1.0370	10	0.87932	D	0	.	8.726	0.34469	1.0:0.0:0.0:0.0	.	116;247	P20742-2;P20742	.;PZP_HUMAN	R	247;116	ENSP00000261336:I247R;ENSP00000371427:I116R	ENSP00000261336:I247R	I	-	2	0	PZP	9244242	0.077000	0.21312	0.002000	0.10522	0.255000	0.26057	4.818000	0.62657	1.505000	0.48720	0.254000	0.18369	ATA		0.313	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		7	16	0	0	0	1	0	7	16				
ASUN	55726	broad.mit.edu	37	12	27089676	27089676	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr12:27089676C>T	ENST00000261191.7	-	2	597	c.61G>A	c.(61-63)Gca>Aca	p.A21T	FGFR1OP2_ENST00000546072.1_5'Flank|FGFR1OP2_ENST00000229395.3_5'Flank|FGFR1OP2_ENST00000327214.5_5'Flank|ASUN_ENST00000539625.1_Intron	NM_018164.2	NP_060634.2	Q9NVM9	ASUN_HUMAN	asunder spermatogenesis regulator	21					centrosome localization (GO:0051642)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|protein localization to nuclear envelope (GO:0090435)|regulation of fertilization (GO:0080154)|regulation of mitotic cell cycle (GO:0007346)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											CAAGATTCTGCCATATAAGGG	0.383																																						uc001rhk.4																			0											c.(61-63)Gca>Aca		Homo sapiens asunder, spermatogenesis regulator homolog (Drosphila) (ASUN), mRNA.							62.0	63.0	63.0					12																	27089676		2203	4300	6503	SO:0001583	missense	55726				cell division|mitosis|regulation of mitotic cell cycle		protein binding	g.chr12:27089676C>T	AK001222	CCDS8708.1	12p12.3	2013-05-08	2013-05-08	2011-12-09	ENSG00000064102	ENSG00000064102			20174	protein-coding gene	gene with protein product	"""spermatogenesis associated 30"""	615079	"""chromosome 12 open reading frame 11"", ""asunder, spermatogenesis regulator homolog (Drosphila)"""	C12orf11		12414650, 19357193, 23097494	Standard	NM_018164		Approved	FLJ10637, NET48, Mat89Bb, SPATA30	uc001rhk.4	Q9NVM9	OTTHUMG00000169193	ENST00000261191.7:c.61G>A	12.37:g.27089676C>T	ENSP00000261191:p.Ala21Thr					ASUN_uc010sjk.2_Intron|FGFR1OP2_uc001rhl.3_5'Flank|FGFR1OP2_uc001rhm.3_5'Flank|FGFR1OP2_uc001rhn.3_5'Flank	p.A21T	NM_018164	NP_060634	Q9NVM9	M89BB_HUMAN			1	598	-			21					B4DNK1|Q86WE2|Q96HM2|Q9BTX2|Q9NTB6|Q9NVM5	Missense_Mutation	SNP	ENST00000261191.7	37	c.61G>A	CCDS8708.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.050405	0.75960	.	.	ENSG00000064102	ENST00000261191;ENST00000544548;ENST00000537336	T;T;T	0.49139	0.79;0.79;0.79	5.56	4.65	0.58169	.	0.114168	0.64402	D	0.000014	T	0.50905	0.1643	L	0.55481	1.735	0.80722	D	1	P	0.35328	0.495	B	0.42555	0.391	T	0.55250	-0.8170	10	0.66056	D	0.02	-19.7052	13.7105	0.62665	0.2802:0.7197:0.0:0.0	.	21	Q9NVM9	M89BB_HUMAN	T	21	ENSP00000261191:A21T;ENSP00000446183:A21T;ENSP00000443066:A21T	ENSP00000261191:A21T	A	-	1	0	C12orf11	26980943	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	4.442000	0.59988	1.431000	0.47355	0.655000	0.94253	GCA		0.383	ASUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402819.1	NM_018164		3	63	0	0	0	1	0	3	63				
WDPCP	51057	broad.mit.edu	37	2	63631601	63631601	+	Silent	SNP	C	C	T			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr2:63631601C>T	ENST00000272321.7	-	10	1544	c.1017G>A	c.(1015-1017)aaG>aaA	p.K339K	WDPCP_ENST00000409120.1_Silent_p.K147K|WDPCP_ENST00000409199.1_Silent_p.K147K|WDPCP_ENST00000409835.1_5'UTR|WDPCP_ENST00000398544.3_Silent_p.K180K|WDPCP_ENST00000409562.3_Silent_p.K339K	NM_015910.5	NP_056994.3	O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	339					auditory receptor cell morphogenesis (GO:0002093)|camera-type eye development (GO:0043010)|cardiovascular system development (GO:0072358)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|digestive system development (GO:0055123)|embryonic digit morphogenesis (GO:0042733)|establishment of protein localization (GO:0045184)|glomerular visceral epithelial cell migration (GO:0090521)|kidney development (GO:0001822)|palate development (GO:0060021)|regulation of embryonic cell shape (GO:0016476)|regulation of establishment of cell polarity (GO:2000114)|regulation of fibroblast migration (GO:0010762)|regulation of focal adhesion assembly (GO:0051893)|regulation of protein localization (GO:0032880)|regulation of ruffle assembly (GO:1900027)|respiratory system development (GO:0060541)|septin cytoskeleton organization (GO:0032185)|smoothened signaling pathway (GO:0007224)	axonemal basal plate (GO:0097541)|axoneme (GO:0005930)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						AGCTGATGGCCTTTGACTTTA	0.433																																						uc002sch.3																			0		p.S338*(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						c.(1015-1017)aaG>aaA		Homo sapiens WD repeat containing planar cell polarity effector (WDPCP), mRNA.							126.0	122.0	123.0					2																	63631601		1988	4173	6161	SO:0001819	synonymous_variant	51057				cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane		g.chr2:63631601C>T		CCDS42688.1, CCDS46301.1	2p15	2014-04-24	2011-02-01	2011-02-01	ENSG00000143951	ENSG00000143951			28027	protein-coding gene	gene with protein product		613580	"""chromosome 2 open reading frame 86"""	C2orf86		15654087, 20671153	Standard	NM_015910		Approved	hFrtz, fritz, BBS15	uc002sch.3	O95876	OTTHUMG00000152566	ENST00000272321.7:c.1017G>A	2.37:g.63631601C>T						WDPCP_uc002sce.3_Non-coding_Transcript|WDPCP_uc002scf.3_Silent_p.K180K|WDPCP_uc010ypu.2_Non-coding_Transcript|WDPCP_uc002scg.3_Silent_p.K147K|WDPCP_uc002sci.2_Silent_p.K315K|WDPCP_uc010fcr.1_Silent_p.K229K	p.K339K	NM_015910	NP_056994	O95876	FRITZ_HUMAN			9	1479	-			339					Q53RW4|Q7Z2Z3	Silent	SNP	ENST00000272321.7	37	c.1017G>A	CCDS42688.1																																																																																				0.433	WDPCP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326820.1	NM_015910		3	95	0	0	0	1	0	3	95				
YBX2	51087	broad.mit.edu	37	17	7193773	7193773	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr17:7193773G>A	ENST00000007699.5	-	5	604	c.541C>T	c.(541-543)Cgc>Tgc	p.R181C	YBX2_ENST00000570627.1_5'UTR	NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	181					mRNA stabilization (GO:0048255)|negative regulation of binding (GO:0051100)|negative regulation of translation (GO:0017148)|oocyte development (GO:0048599)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|translational attenuation (GO:0009386)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lipid binding (GO:0008289)|mRNA 3'-UTR binding (GO:0003730)|ribonucleoprotein complex binding (GO:0043021)|translation regulator activity (GO:0045182)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						ATGAATCGGCGGGACTTACGT	0.647																																						uc002gfq.2																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						c.(541-543)Cgc>Tgc		Homo sapiens Y box binding protein 2 (YBX2), mRNA.							35.0	39.0	37.0					17																	7193773		2194	4282	6476	SO:0001583	missense	51087				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding	g.chr17:7193773G>A	AF096834	CCDS11098.1	17p13.1	2013-12-20			ENSG00000006047	ENSG00000006047			17948	protein-coding gene	gene with protein product		611447				10100484, 9780336	Standard	NM_015982		Approved	MSY2, CSDA3	uc002gfq.2	Q9Y2T7	OTTHUMG00000177992	ENST00000007699.5:c.541C>T	17.37:g.7193773G>A	ENSP00000007699:p.Arg181Cys						p.R181C	NM_015982	NP_057066	Q9Y2T7	YBOX2_HUMAN			4	598	-			181					D3DTP1|Q8N4P0	Missense_Mutation	SNP	ENST00000007699.5	37	c.541C>T	CCDS11098.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.453200	0.84209	.	.	ENSG00000006047	ENST00000007699	T	0.32988	1.43	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.57344	0.2047	M	0.82132	2.575	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.63111	-0.6710	10	0.87932	D	0	-4.7685	15.478	0.75501	0.0:0.0:1.0:0.0	.	181	Q9Y2T7	YBOX2_HUMAN	C	181	ENSP00000007699:R181C	ENSP00000007699:R181C	R	-	1	0	YBX2	7134497	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	4.383000	0.59600	2.613000	0.88420	0.561000	0.74099	CGC		0.647	YBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440172.2	NM_015982		3	55	0	0	0	1	0	3	55				
GBF1	8729	broad.mit.edu	37	10	104119094	104119094	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr10:104119094G>A	ENST00000369983.3	+	11	1339	c.1079G>A	c.(1078-1080)tGc>tAc	p.C360Y	GBF1_ENST00000476019.1_3'UTR	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	360					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		TTAGAGGAGTGCACGTCCCCT	0.552																																						uc001kux.2																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(1078-1080)tGc>tAc		Homo sapiens golgi brefeldin A resistant guanine nucleotide exchange factor 1 (GBF1), transcript variant 1, mRNA.							178.0	139.0	152.0					10																	104119094		2203	4300	6503	SO:0001583	missense	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104119094G>A	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.1079G>A	10.37:g.104119094G>A	ENSP00000359000:p.Cys360Tyr					GBF1_uc001kuw.3_3'UTR|GBF1_uc001kuy.2_Missense_Mutation_p.C360Y|GBF1_uc001kuz.2_Missense_Mutation_p.C361Y	p.C360Y	NM_004193	NP_004184	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	10	1373	+		Colorectal(252;0.0236)	360					Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	c.1079G>A	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.355979	0.41700	.	.	ENSG00000107862	ENST00000369983	T	0.09538	2.97	5.63	4.73	0.59995	.	0.184359	0.64402	D	0.000019	T	0.10078	0.0247	L	0.51422	1.61	0.42822	D	0.993993	P;P;P	0.42973	0.796;0.641;0.584	B;B;B	0.34180	0.177;0.091;0.091	T	0.06092	-1.0846	10	0.59425	D	0.04	-3.9609	10.6734	0.45772	0.1456:0.0:0.8544:0.0	.	360;360;360	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	Y	360	ENSP00000359000:C360Y	ENSP00000359000:C360Y	C	+	2	0	GBF1	104109084	1.000000	0.71417	0.694000	0.30210	0.791000	0.44710	6.104000	0.71498	1.378000	0.46305	0.655000	0.94253	TGC		0.552	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			19	37	0	0	0	1	0	19	37				
STXBP4	252983	broad.mit.edu	37	17	53063607	53063607	+	Silent	SNP	A	A	G			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr17:53063607A>G	ENST00000376352.2	+	3	234	c.27A>G	c.(25-27)gtA>gtG	p.V9V	STXBP4_ENST00000405898.1_Silent_p.V9V|STXBP4_ENST00000299341.4_5'UTR|STXBP4_ENST00000398391.2_5'UTR|STXBP4_ENST00000434978.2_Silent_p.V9V	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	9					cellular response to DNA damage stimulus (GO:0006974)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of keratinocyte proliferation (GO:0010838)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						CTACTGTAGTATCACCCAGTC	0.259																																						uc002iuf.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						c.(25-27)gtA>gtG		Homo sapiens syntaxin binding protein 4 (STXBP4), mRNA.							56.0	62.0	60.0					17																	53063607		2203	4291	6494	SO:0001819	synonymous_variant	252983					cytoplasm	calcium ion binding	g.chr17:53063607A>G	BC041485	CCDS11584.2	17q22	2008-02-05			ENSG00000166263	ENSG00000166263			19694	protein-coding gene	gene with protein product		610415				12855681	Standard	XM_005257187		Approved	Synip, MGC50337	uc002iuf.1	Q6ZWJ1	OTTHUMG00000074043	ENST00000376352.2:c.27A>G	17.37:g.53063607A>G						STXBP4_uc010dcc.1_5'UTR|STXBP4_uc010dcd.1_Silent_p.V9V	p.V9V	NM_178509	NP_848604	Q6ZWJ1	STXB4_HUMAN			2	234	+			9					Q8IVZ5	Silent	SNP	ENST00000376352.2	37	c.27A>G	CCDS11584.2																																																																																				0.259	STXBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157184.1	NM_178509		24	35	0	0	0	1	0	24	35				
SIM1	6492	broad.mit.edu	37	6	100838751	100838751	+	Missense_Mutation	SNP	T	T	A			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr6:100838751T>A	ENST00000369208.3	-	12	2569	c.1787A>T	c.(1786-1788)aAt>aTt	p.N596I	SIM1_ENST00000262901.4_Missense_Mutation_p.N596I			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	596	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CCCAGCCCCATTAATGGAAGC	0.458																																						uc003pqj.4																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79						c.(1786-1788)aAt>aTt		Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.							72.0	72.0	72.0					6																	100838751		2203	4300	6503	SO:0001583	missense	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100838751T>A	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.1787A>T	6.37:g.100838751T>A	ENSP00000358210:p.Asn596Ile					SIM1_uc021zdg.1_Missense_Mutation_p.N596I|SIM1_uc010kcu.3_Missense_Mutation_p.N596I	p.N596I	NM_005068	NP_005059	P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	10	2254	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	596			Single-minded C-terminal.		Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	c.1787A>T	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	T	13.51	2.257426	0.39896	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.32515	1.45;1.45	5.82	4.63	0.57726	Single-minded, C-terminal (2);	0.179164	0.64402	N	0.000017	T	0.10423	0.0255	N	0.19112	0.55	0.49582	D	0.999804	B	0.09022	0.002	B	0.10450	0.005	T	0.04579	-1.0941	10	0.87932	D	0	.	12.1552	0.54072	0.1283:0.0:0.0:0.8717	.	596	P81133	SIM1_HUMAN	I	596	ENSP00000358210:N596I;ENSP00000262901:N596I	ENSP00000262901:N596I	N	-	2	0	SIM1	100945472	1.000000	0.71417	0.999000	0.59377	0.942000	0.58702	5.902000	0.69869	0.979000	0.38497	0.455000	0.32223	AAT		0.458	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		26	32	0	0	0	1	0	26	32				
CCDC180	100499483	broad.mit.edu	37	9	100085164	100085164	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr9:100085164G>C	ENST00000357054.1	+	26	2693	c.1758G>C	c.(1756-1758)aaG>aaC	p.K586N	CCDC180_ENST00000529487.1_Missense_Mutation_p.K447N|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000375202.2_Missense_Mutation_p.K447N|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000395220.1_Missense_Mutation_p.K546N|CCDC180_ENST00000411667.2_Missense_Mutation_p.K444N			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	586						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											TGTATGAGAAGACATGGCAGG	0.532																																						uc011lut.2																			0				breast(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(1)	16						c.(1756-1758)aaG>aaC		Homo sapiens chromosome 9 open reading frame 174 (C9orf174), mRNA.							109.0	84.0	92.0					9																	100085164		2203	4300	6503	SO:0001583	missense	100499483					integral to membrane		g.chr9:100085164G>C	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.1758G>C	9.37:g.100085164G>C	ENSP00000349562:p.Lys586Asn					C9orf174_uc004axe.2_Missense_Mutation_p.K586N|C9orf174_uc011lus.2_Missense_Mutation_p.K404N|C9orf174_uc004axg.2_Missense_Mutation_p.K447N|C9orf174_uc010msm.1_Non-coding_Transcript|C9orf174_uc004axf.3_Missense_Mutation_p.K447N|C9orf174_uc011luv.1_Missense_Mutation_p.K444N	p.K586N	NM_020893	NP_065944	Q9P1Z9	CI174_HUMAN			25	2764	+			586					Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37	c.1758G>C		.	.	.	.	.	.	.	.	.	.	G	3.916	-0.019114	0.07634	.	.	ENSG00000197816	ENST00000357054;ENST00000395220;ENST00000375202;ENST00000411667;ENST00000541524;ENST00000529487	T;T;T;T;T	0.25085	1.82;1.82;1.82;1.82;1.82	5.08	-0.991	0.10235	.	1.100060	0.06849	N	0.796973	T	0.22003	0.0530	L	0.57536	1.79	0.09310	N	1	B;B;B;B	0.31931	0.347;0.009;0.043;0.009	B;B;B;B	0.30105	0.111;0.016;0.035;0.016	T	0.29822	-0.9999	10	0.39692	T	0.17	-8.6901	4.2608	0.10740	0.3157:0.3187:0.3656:0.0	.	444;586;447;586	F5H149;B7ZMG3;Q9P1Z9-2;Q9P1Z9	.;.;.;CI174_HUMAN	N	586;546;447;444;470;447	ENSP00000349562:K586N;ENSP00000378646:K546N;ENSP00000364348:K447N;ENSP00000414000:K444N;ENSP00000434727:K447N	ENSP00000349562:K586N	K	+	3	2	C9orf174	99124985	0.097000	0.21791	0.016000	0.15963	0.145000	0.21501	-0.082000	0.11304	-0.016000	0.14127	-0.502000	0.04539	AAG		0.532	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		12	18	0	0	0	1	0	12	18				
TRIM32	22954	broad.mit.edu	37	9	119460294	119460294	+	Silent	SNP	C	C	T			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr9:119460294C>T	ENST00000450136.1	+	2	434	c.273C>T	c.(271-273)ctC>ctT	p.L91L	ASTN2_ENST00000373996.3_Intron|TRIM32_ENST00000373983.2_Silent_p.L91L|ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000313400.4_Intron	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	91					fat cell differentiation (GO:0045444)|innate immune response (GO:0045087)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of proteolysis (GO:0045862)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of type I interferon production (GO:0032479)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|striated muscle myosin thick filament (GO:0005863)	ligase activity (GO:0016874)|myosin binding (GO:0017022)|protein self-association (GO:0043621)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|translation initiation factor binding (GO:0031369)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						CAGCTGGGCTCAGCGAGGCTG	0.582																																					Esophageal Squamous(92;212 1916 19711 26951)	uc004bjw.2																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(271-273)ctC>ctT		Homo sapiens tripartite motif containing 32 (TRIM32), transcript variant 1, mRNA.							72.0	67.0	69.0					9																	119460294		2203	4300	6503	SO:0001819	synonymous_variant	22954				fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV|response to tumor necrosis factor	nucleus	RNA binding|Tat protein binding|myosin binding|protein self-association|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:119460294C>T	U18543	CCDS6817.1	9q33.1	2014-09-17	2011-01-25		ENSG00000119401	ENSG00000119401		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16380	protein-coding gene	gene with protein product		602290	"""limb girdle muscular dystrophy 2H (autosomal recessive)"", ""tripartite motif-containing 32"""	LGMD2H		11331580, 7778269, 16606853	Standard	NM_001099679		Approved	HT2A, TATIP, BBS11	uc004bjx.2	Q13049	OTTHUMG00000021026	ENST00000450136.1:c.273C>T	9.37:g.119460294C>T						ASTN2_uc022bml.1_Intron|ASTN2_uc022bmm.1_Intron|ASTN2_uc004bjt.2_Intron|TRIM32_uc004bjx.2_Silent_p.L91L|TRIM32_uc022bmo.1_Silent_p.L91L	p.L91L	NM_012210	NP_036342	Q13049	TRI32_HUMAN			1	434	+			91					Q9NQP8	Silent	SNP	ENST00000450136.1	37	c.273C>T	CCDS6817.1																																																																																				0.582	TRIM32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055466.2	NM_012210		31	38	0	0	0	1	0	31	38				
GLRA4	441509	broad.mit.edu	37	X	102977177	102977177	+	Silent	SNP	A	A	G			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chrX:102977177A>G	ENST00000372617.4	-	6	1041	c.621T>C	c.(619-621)gaT>gaC	p.D207D	GLRA4_ENST00000469567.1_5'Flank	NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	207						cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						CAGCAGGAGCATCTTCCAGCC	0.537																																						uc011mse.2																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(619-621)gaT>gaC		Homo sapiens glycine receptor, alpha 4 (GLRA4), transcript variant 1, mRNA.							115.0	123.0	121.0					X																	102977177		2140	4254	6394	SO:0001819	synonymous_variant	441509					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chrX:102977177A>G	Z93848	CCDS43980.2	Xq22.2	2012-01-16			ENSG00000188828	ENSG00000188828		"""Ligand-gated ion channels / Glycine receptors"""	31715	protein-coding gene	gene with protein product							Standard	NM_001024452		Approved		uc011mse.2	Q5JXX5	OTTHUMG00000022110	ENST00000372617.4:c.621T>C	X.37:g.102977177A>G						GLRA4_uc010nou.2_Silent_p.D207D	p.D207D	NM_001024452	NP_001019623	Q5JXX5	GLRA4_HUMAN			5	1042	-			207						Silent	SNP	ENST00000372617.4	37	c.621T>C	CCDS43980.2																																																																																				0.537	GLRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057742.2	NM_001024452		9	208	0	0	0	1	0	9	208				
VEGFA	7422	broad.mit.edu	37	6	43742103	43742103	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr6:43742103A>G	ENST00000523873.1	+	2	130	c.92A>G	c.(91-93)gAa>gGa	p.E31G	VEGFA_ENST00000372064.4_Missense_Mutation_p.E211G|VEGFA_ENST00000372067.3_Missense_Mutation_p.E211G|VEGFA_ENST00000417285.2_Missense_Mutation_p.E211G|VEGFA_ENST00000457104.2_Missense_Mutation_p.E31G|VEGFA_ENST00000482630.2_Missense_Mutation_p.E211G|VEGFA_ENST00000324450.6_Missense_Mutation_p.E211G|VEGFA_ENST00000523950.1_Missense_Mutation_p.E31G|VEGFA_ENST00000523125.1_Missense_Mutation_p.E31G|VEGFA_ENST00000518824.1_Missense_Mutation_p.E31G|VEGFA_ENST00000518689.1_Missense_Mutation_p.E31G|VEGFA_ENST00000372077.4_Missense_Mutation_p.E31G|VEGFA_ENST00000425836.2_Missense_Mutation_p.E211G|VEGFA_ENST00000413642.3_Missense_Mutation_p.E211G|VEGFA_ENST00000520948.1_Missense_Mutation_p.E31G|VEGFA_ENST00000230480.6_Missense_Mutation_p.E3G|VEGFA_ENST00000372055.4_Missense_Mutation_p.E211G			P15692	VEGFA_HUMAN	vascular endothelial growth factor A	31					activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|artery morphogenesis (GO:0048844)|basophil chemotaxis (GO:0002575)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|camera-type eye morphogenesis (GO:0048593)|cardiac muscle fiber development (GO:0048739)|cardiac vascular smooth muscle cell development (GO:0060948)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to hypoxia (GO:0071456)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|dopaminergic neuron differentiation (GO:0071542)|endothelial cell chemotaxis (GO:0035767)|epithelial cell differentiation (GO:0030855)|eye photoreceptor cell development (GO:0042462)|growth (GO:0040007)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|induction of positive chemotaxis (GO:0050930)|kidney development (GO:0001822)|lactation (GO:0007595)|lung development (GO:0030324)|lymph vessel morphogenesis (GO:0036303)|macrophage differentiation (GO:0030225)|mammary gland alveolus development (GO:0060749)|mesoderm development (GO:0007498)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|outflow tract morphogenesis (GO:0003151)|ovarian follicle development (GO:0001541)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cellular component movement (GO:0051272)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine autophosphorylation (GO:1900086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein localization to early endosome (GO:1902966)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor internalization (GO:0002092)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of vascular permeability (GO:0043117)|post-embryonic camera-type eye development (GO:0031077)|primitive erythrocyte differentiation (GO:0060319)|regulation of cell shape (GO:0008360)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to hypoxia (GO:0001666)|surfactant homeostasis (GO:0043129)|tube formation (GO:0035148)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|VEGF-activated neuropilin signaling pathway (GO:0038190)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|neuropilin binding (GO:0038191)|platelet-derived growth factor receptor binding (GO:0005161)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor agonist activity (GO:0048018)|vascular endothelial growth factor receptor 1 binding (GO:0043183)|vascular endothelial growth factor receptor 2 binding (GO:0043184)|vascular endothelial growth factor receptor binding (GO:0005172)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		Aflibercept(DB08885)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Dalteparin(DB06779)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Vandetanib(DB05294)	CCCATGGCAGAAGGAGGAGGG	0.617											OREG0017458	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003owh.3																			0		p.A210A(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9						c.(631-633)gAa>gGa		Homo sapiens vascular endothelial growth factor A (VEGFA), transcript variant 1, mRNA.	Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641)						87.0	74.0	78.0					6																	43742103		2203	4300	6503	SO:0001583	missense	7422				basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis	cell surface|extracellular space|membrane|platelet alpha granule lumen	cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding	g.chr6:43742103A>G	AB021221	CCDS34457.1, CCDS4907.2, CCDS34458.1, CCDS47432.1, CCDS47433.1, CCDS47434.1, CCDS47435.1, CCDS55007.1, CCDS55008.1, CCDS55009.1, CCDS55010.1, CCDS55011.1, CCDS55012.1, CCDS55013.1, CCDS55014.1, CCDS55015.1, CCDS69125.1	6p12	2008-02-05	2006-10-31	2006-10-31	ENSG00000112715	ENSG00000112715			12680	protein-coding gene	gene with protein product		192240	"""vascular endothelial growth factor"""	VEGF		8786112	Standard	NM_001025366		Approved	VEGF-A, VPF	uc003owh.3	P15692	OTTHUMG00000014745	ENST00000523873.1:c.92A>G	6.37:g.43742103A>G	ENSP00000430479:p.Glu31Gly		OREG0017458	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	918	VEGFA_uc003owb.3_Missense_Mutation_p.E31G|VEGFA_uc003owd.3_Missense_Mutation_p.E211G|VEGFA_uc010jyx.3_Missense_Mutation_p.E211G|VEGFA_uc003owf.3_Missense_Mutation_p.E211G|VEGFA_uc003owg.3_Missense_Mutation_p.E211G|VEGFA_uc003owe.3_Missense_Mutation_p.E211G|VEGFA_uc021yzu.1_Missense_Mutation_p.E210G|VEGFA_uc003owj.3_Missense_Mutation_p.E211G|VEGFA_uc003owi.3_Missense_Mutation_p.E211G	p.E211G	NM_001171623	NP_001165094	P15692	VEGFA_HUMAN	all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		1	1130	+	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		31					B5BU86|H0Y2S8|H0Y407|H0Y414|H0Y462|H0Y8N2|H3BLW7|O60720|O75875|Q074Z4|Q16889|Q5UB46|Q6P0P5|Q96KJ0|Q96L82|Q96NW5|Q9H1W8|Q9H1W9|Q9UH58|Q9UL23	Missense_Mutation	SNP	ENST00000523873.1	37	c.632A>G	CCDS55010.1	.	.	.	.	.	.	.	.	.	.	A	3.755	-0.050774	0.07407	.	.	ENSG00000112715	ENST00000372067;ENST00000324450;ENST00000417285;ENST00000413642;ENST00000372055;ENST00000482630;ENST00000425836;ENST00000372064;ENST00000372077;ENST00000520948;ENST00000523873;ENST00000523950;ENST00000457104;ENST00000518689;ENST00000523125;ENST00000518824;ENST00000230480;ENST00000520265	.	.	.	4.6	2.19	0.27852	.	.	.	.	.	T	0.06600	0.0169	N	0.11818	0.18	0.22066	N	0.999382	B;B;B;B;B;B;B;B;B	0.24963	0.0;0.014;0.001;0.115;0.0;0.0;0.002;0.001;0.0	B;B;B;B;B;B;B;B;B	0.23716	0.0;0.018;0.003;0.048;0.002;0.0;0.006;0.002;0.001	T	0.37753	-0.9692	8	0.30078	T	0.28	-0.9378	6.1111	0.20102	0.7947:0.0:0.2053:0.0	.	31;211;31;211;31;211;211;31;31	P15692-10;P15692-12;P15692-8;P15692-14;P15692-3;P15692-13;P15692-11;P15692;Q6WZM0	.;.;.;.;.;.;.;VEGFA_HUMAN;.	G	211;211;211;211;211;211;211;211;31;31;31;31;31;31;31;31;3;5	.	ENSP00000230480:E3G	E	+	2	0	VEGFA	43850081	0.989000	0.36119	0.981000	0.43875	0.012000	0.07955	0.096000	0.15147	0.288000	0.22398	0.459000	0.35465	GAA		0.617	VEGFA-021	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374460.1	NM_001025366		5	36	0	0	0	1	0	5	36				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333	NP_004324	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		30	36	0	0	0	1	0	30	36				
OPN4	94233	broad.mit.edu	37	10	88419674	88419674	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr10:88419674T>C	ENST00000241891.5	+	6	990	c.823T>C	c.(823-825)Tgc>Cgc	p.C275R	OPN4_ENST00000372071.2_Missense_Mutation_p.C286R	NM_033282.3	NP_150598.1	Q9UHM6	OPN4_HUMAN	opsin 4	275					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|rhodopsin mediated signaling pathway (GO:0016056)|rhythmic process (GO:0048511)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	11-cis retinal binding (GO:0005502)|G-protein coupled photoreceptor activity (GO:0008020)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						CTTCGGGGCCTGCAAGGGCAA	0.637																																						uc010qmk.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						c.(856-858)Tgc>Cgc		Homo sapiens opsin 4 (OPN4), transcript variant 2, mRNA.							100.0	75.0	84.0					10																	88419674		2203	4300	6503	SO:0001583	missense	94233				phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity	g.chr10:88419674T>C	AF147788	CCDS7376.1, CCDS31237.1	10q22	2012-08-08	2008-04-16		ENSG00000122375	ENSG00000122375		"""GPCR / Class A : Opsin receptors"""	14449	protein-coding gene	gene with protein product	"""melanopsin"""	606665	"""opsin 4 (melanopsin)"""			10632589	Standard	NM_001030015		Approved	MOP, melanopsin	uc001kdp.3	Q9UHM6	OTTHUMG00000018654	ENST00000241891.5:c.823T>C	10.37:g.88419674T>C	ENSP00000241891:p.Cys275Arg					OPN4_uc001kdp.3_Missense_Mutation_p.C286R|OPN4_uc001kdq.3_Missense_Mutation_p.C275R|OPN4_uc009xsx.1_5'Flank	p.C286R	NM_001030015	NP_001025186	Q9UHM6	OPN4_HUMAN			6	1083	+			275					B7ZLB3|Q14D01|Q2PP22|Q8NGQ9	Missense_Mutation	SNP	ENST00000241891.5	37	c.856T>C	CCDS7376.1	.	.	.	.	.	.	.	.	.	.	T	6.753	0.507722	0.12883	.	.	ENSG00000122375	ENST00000372071;ENST00000241891;ENST00000443292	T;T;T	0.68479	-0.29;0.08;-0.33	5.16	2.68	0.31781	GPCR, rhodopsin-like superfamily (1);	1.467820	0.03667	N	0.243430	T	0.39809	0.1092	N	0.02192	-0.645	0.19300	N	0.999976	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.18263	0.021;0.008;0.006	T	0.42344	-0.9457	10	0.12430	T	0.62	.	5.9201	0.19078	0.2424:0.0:0.1234:0.6342	.	286;275;286	C9JWU6;Q9UHM6;Q9UHM6-2	.;OPN4_HUMAN;.	R	286;275;286	ENSP00000361141:C286R;ENSP00000241891:C275R;ENSP00000393132:C286R	ENSP00000241891:C275R	C	+	1	0	OPN4	88409654	0.000000	0.05858	0.954000	0.39281	0.612000	0.37316	-0.116000	0.10724	1.955000	0.56771	0.529000	0.55759	TGC		0.637	OPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049158.2	NM_033282		3	51	0	0	0	1	0	3	51				
MAPKBP1	23005	broad.mit.edu	37	15	42115281	42115281	+	Silent	SNP	C	C	T			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr15:42115281C>T	ENST00000456763.2	+	29	3673	c.3477C>T	c.(3475-3477)agC>agT	p.S1159S	RP11-23P13.4_ENST00000510176.1_RNA|MAPKBP1_ENST00000514566.1_Intron|MAPKBP1_ENST00000221214.6_Silent_p.S1036S|MAPKBP1_ENST00000457542.2_Silent_p.S1153S|RP11-23P13.4_ENST00000512295.1_RNA|MAPKBP1_ENST00000260357.7_Silent_p.S992S	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	1159										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GCAACCCCAGCCCCCAGCAGG	0.657																																						uc001zok.4																			0				breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(3475-3477)agC>agT		Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA.							33.0	30.0	31.0					15																	42115281		2203	4300	6503	SO:0001819	synonymous_variant	23005							g.chr15:42115281C>T	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.3477C>T	15.37:g.42115281C>T						MAPKBP1_uc010bci.3_Intron|MAPKBP1_uc010udb.2_Silent_p.S992S|MAPKBP1_uc001zoj.4_Silent_p.S1153S|MAPKBP1_uc010bcj.3_Silent_p.S660S|MAPKBP1_uc010bck.3_Silent_p.S370S|MAPKBP1_uc010bcl.3_Silent_p.S660S	p.S1159S	NM_001128608	NP_001122080	O60336	MABP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	28	3763	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	1159					A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Silent	SNP	ENST00000456763.2	37	c.3477C>T	CCDS45239.1																																																																																				0.657	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994		22	28	0	0	0	1	0	22	28				
S1PR1	1901	broad.mit.edu	37	1	101705451	101705451	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr1:101705451C>T	ENST00000305352.6	+	2	1286	c.911C>T	c.(910-912)tCc>tTc	p.S304F		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	304					actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|brain development (GO:0007420)|cardiac muscle tissue growth involved in heart morphogenesis (GO:0003245)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|chemotaxis (GO:0006935)|endothelial cell differentiation (GO:0045446)|G-protein coupled receptor signaling pathway (GO:0007186)|heart trabecula morphogenesis (GO:0061384)|lamellipodium assembly (GO:0030032)|negative regulation of stress fiber assembly (GO:0051497)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of cell adhesion (GO:0030155)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell migration (GO:0072678)|transmission of nerve impulse (GO:0019226)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|sphingolipid binding (GO:0046625)|sphingosine-1-phosphate receptor activity (GO:0038036)			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						GTGCTCAACTCCGGCACCAAC	0.567																																						uc001dud.2																			0				NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						c.(910-912)tCc>tTc		Homo sapiens sphingosine-1-phosphate receptor 1 (S1PR1), mRNA.							215.0	216.0	215.0					1																	101705451		2203	4300	6503	SO:0001583	missense	1901				cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity	g.chr1:101705451C>T	M31210	CCDS777.1	1p21	2012-08-08	2008-04-30	2008-04-30	ENSG00000170989	ENSG00000170989		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"", ""CD molecules"""	3165	protein-coding gene	gene with protein product		601974	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 1"""	EDG1		2160972, 9488656	Standard	NM_001400		Approved	edg-1, D1S3362, CD363	uc001dud.2	P21453	OTTHUMG00000010835	ENST00000305352.6:c.911C>T	1.37:g.101705451C>T	ENSP00000305416:p.Ser304Phe					S1PR1_uc009weg.2_Missense_Mutation_p.S304F|S1PR1_uc021oqt.1_Missense_Mutation_p.S304F	p.S304F	NM_001400	NP_001391	P21453	S1PR1_HUMAN			1	1425	+			304					D3DT66|Q9BYY4|Q9NYN8	Missense_Mutation	SNP	ENST00000305352.6	37	c.911C>T	CCDS777.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.059843	0.76074	.	.	ENSG00000170989	ENST00000305352;ENST00000424264	T	0.79749	-1.3	4.87	4.87	0.63330	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.93318	0.7870	H	0.97829	4.085	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95945	0.8950	10	0.87932	D	0	.	18.0062	0.89210	0.0:1.0:0.0:0.0	.	304	P21453	S1PR1_HUMAN	F	304	ENSP00000305416:S304F	ENSP00000305416:S304F	S	+	2	0	S1PR1	101478039	1.000000	0.71417	0.928000	0.36995	0.973000	0.67179	7.818000	0.86416	2.226000	0.72624	0.305000	0.20034	TCC		0.567	S1PR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029908.1	NM_001400		126	205	0	0	0	1	0	126	205				
CD302	9936	broad.mit.edu	37	2	160637475	160637477	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr2:160637475_160637477delTTC	ENST00000259053.4	-	3	254_256	c.211_213delGAA	c.(211-213)gaadel	p.E71del	LY75_ENST00000554112.1_In_Frame_Del_p.E1712del|LY75_ENST00000553424.1_In_Frame_Del_p.E1656del|LY75-CD302_ENST00000504764.1_In_Frame_Del_p.E1712del|LY75-CD302_ENST00000505052.1_In_Frame_Del_p.E1656del|CD302_ENST00000480212.1_5'UTR|CD302_ENST00000429078.2_In_Frame_Del_p.E71del	NM_001198764.1|NM_014880.4	NP_001185693.1|NP_055695.2	Q8IX05	CD302_HUMAN	CD302 molecule	71	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				phagocytosis (GO:0006909)	cell cortex (GO:0005938)|filopodium (GO:0030175)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)	p.E71Q(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						TAAAAGCATTTTCTTCTTCATTA	0.335																																						uc002ubb.4																			1	Substitution - Missense(1)	p.E71Q(1)	lung(1)								c.(5134-5136)gaadel		Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA.																																				SO:0001651	inframe_deletion	100526664				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding	g.chr2:160637475_160637477delTTC	AY314007	CCDS33308.1, CCDS56139.1, CCDS74595.1	2q24.2	2011-08-30	2006-03-28		ENSG00000241399	ENSG00000241399		"""CD molecules"", ""C-type lectin domain containing"""	30843	protein-coding gene	gene with protein product	"""C-type lectin domain family 13, member A"""	612246	"""CD302 antigen"""			7584026, 7584028	Standard	NM_014880		Approved	DCL-1, KIAA0022, BIMLEC, CLEC13A		Q8IX05	OTTHUMG00000154080	ENST00000259053.4:c.211_213delGAA	2.37:g.160637481_160637483delTTC	ENSP00000259053:p.Glu71del					LY75-CD302_uc010fos.3_In_Frame_Del_p.E1656del|LY75-CD302_uc002uba.3_In_Frame_Del_p.E71del|LY75-CD302_uc021vrt.1_In_Frame_Del_p.E34del|LY75-CD302_uc010zco.2_In_Frame_Del_p.E71del	p.E1712del	NM_001198759	NP_001185688	O60449	LY75_HUMAN			35	5208_5210	-			1580					A8K5G4|B4E2T9|Q15009	In_Frame_Del	DEL	ENST00000259053.4	37	c.5134_5136delGAA	CCDS33308.1																																																																																				0.335	CD302-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333760.1	NM_014880		28	40						28	40	---	---	---	---
ATN1	1822	broad.mit.edu	37	12	7045484	7045484	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr12:7045484delC	ENST00000356654.4	+	5	1291	c.1054delC	c.(1054-1056)ctgfs	p.L352fs	ATN1_ENST00000396684.2_Frame_Shift_Del_p.L352fs	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	352					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)	p.L352V(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						GGGCCCAACTCTGGCTCCTTC	0.612																																						uc001qrw.1																			1	Substitution - Missense(1)	p.L352V(2)	lung(1)	breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(1054-1056)ctgfs		Homo sapiens atrophin 1 (ATN1), transcript variant 1, mRNA.							129.0	133.0	132.0					12																	7045484		2203	4300	6503	SO:0001589	frameshift_variant	1822				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	g.chr12:7045484delC	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.1054delC	12.37:g.7045484delC	ENSP00000349076:p.Leu352fs					ATN1_uc001qrx.1_Frame_Shift_Del_p.L352fs|ATN1_uc001qry.1_Frame_Shift_Del_p.L351fs	p.L352fs	NM_001007026	NP_001931	P54259	ATN1_HUMAN			4	1291	+			352					Q99495|Q99621|Q9UEK7	Frame_Shift_Del	DEL	ENST00000356654.4	37	c.1054delC	CCDS31734.1																																																																																				0.612	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		61	122						61	122	---	---	---	---
