#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CRIPAK	285464	broad.mit.edu	37	4	1389234	1389234	+	Missense_Mutation	SNP	G	G	A	rs550271289		TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr4:1389234G>A	ENST00000324803.4	+	1	3895	c.935G>A	c.(934-936)tGc>tAc	p.C312Y		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	312					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.P310fs*95(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GTGCCCGCCTGCTCACGTGCC	0.667													-|||	1	0.000199681	0.0	0.0	5008	,	,		13722	0.0		0.0	False		,,,				2504	0.001					uc003gdf.2																			1	Deletion - Frameshift(1)	p.P310fs*95(1)	prostate(1)	NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35						c.(934-936)tGc>tAc		Homo sapiens cysteine-rich PAK1 inhibitor (CRIPAK), mRNA.							161.0	164.0	163.0					4																	1389234		2202	4300	6502	SO:0001583	missense	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1389234G>A	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.935G>A	4.37:g.1389234G>A	ENSP00000323978:p.Cys312Tyr		Somatic					p.C312Y	NM_175918	NP_787114	WXS	Illumina GAIIx	Phase_I	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		0	3895	+			312					Q8NB03	Missense_Mutation	SNP	ENST00000324803.4	37	c.935G>A	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	G	7.541	0.660768	0.14645	.	.	ENSG00000179979	ENST00000324803;ENST00000382944	T	0.18502	2.21	0.815	-1.49	0.08718	.	.	.	.	.	T	0.07052	0.0179	N	0.08118	0	0.09310	N	1	B	0.20052	0.041	B	0.14023	0.01	T	0.34129	-0.9841	9	0.39692	T	0.17	.	4.2763	0.10811	0.7492:0.0:0.2508:0.0	.	312	Q8N1N5	CRPAK_HUMAN	Y	312;254	ENSP00000323978:C312Y	ENSP00000323978:C312Y	C	+	2	0	CRIPAK	1379234	0.008000	0.16893	0.001000	0.08648	0.006000	0.05464	-0.358000	0.07641	-0.204000	0.10235	-0.506000	0.04501	TGC		0.667	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		8	428	0	0	0	1	0	8	428				
CCDC88C	440193	broad.mit.edu	37	14	91770293	91770293	+	Silent	SNP	G	G	A			TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr14:91770293G>A	ENST00000389857.6	-	20	3473	c.3387C>T	c.(3385-3387)agC>agT	p.S1129S		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1129					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)	p.S1129S(1)		central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TGAGCGCTGCGCTCTGGGAAC	0.657																																						uc010aty.3																			1	Substitution - coding silent(1)	p.S1129S(1)	large_intestine(1)	central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24						c.(3385-3387)agC>agT		Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.							52.0	59.0	56.0					14																	91770293		2133	4251	6384	SO:0001819	synonymous_variant	440193				Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association	g.chr14:91770293G>A		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.3387C>T	14.37:g.91770293G>A			Somatic					p.S1129S	NM_001080414	NP_001073883	WXS	Illumina GAIIx	Phase_I	Q9P219	DAPLE_HUMAN			19	3541	-		all_cancers(154;0.0468)	1129					Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Silent	SNP	ENST00000389857.6	37	c.3387C>T	CCDS45151.1																																																																																				0.657	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		40	56	0	0	0	1	0	40	56				
VTN	7448	broad.mit.edu	37	17	26696674	26696674	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr17:26696674C>G	ENST00000226218.4	-	3	1001	c.383G>C	c.(382-384)gGc>gCc	p.G128A	CTB-96E2.3_ENST00000591482.1_RNA|CTB-96E2.2_ENST00000555059.2_5'Flank|SARM1_ENST00000457710.3_5'Flank|TMEM199_ENST00000509083.1_Intron|VTN_ENST00000536498.1_5'UTR|SARM1_ENST00000379061.4_Intron|VTN_ENST00000438614.1_5'Flank	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin	128					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endopeptidase activity (GO:0010951)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein binding (GO:0032092)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of wound healing (GO:0090303)|regulation of complement activation (GO:0030449)|smooth muscle cell-matrix adhesion (GO:0061302)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|blood microparticle (GO:0072562)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Abciximab(DB00054)	CTTAGAGGCGCCCACCTCAGG	0.627																																						uc002hbc.3																			0				kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(382-384)gGc>gCc		Homo sapiens vitronectin (VTN), mRNA.	Urokinase(DB00013)						30.0	31.0	30.0					17																	26696674		2203	4300	6503	SO:0001583	missense	7448				cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity	g.chr17:26696674C>G	BC005046	CCDS11229.1	17q11.2	2014-08-08	2006-02-10		ENSG00000109072	ENSG00000109072		"""Endogenous ligands"""	12724	protein-coding gene	gene with protein product	"""serum spreading factor"", ""somatomedin B"", ""complement S-protein"""	193190	"""vitronectin (serum spreading factor, somatomedin B, complement S-protein)"""			2447940	Standard	NM_000638		Approved	VN	uc002hbc.3	P04004	OTTHUMG00000132500	ENST00000226218.4:c.383G>C	17.37:g.26696674C>G	ENSP00000226218:p.Gly128Ala		Somatic				TMEM199_uc010wah.1_Intron|SARM1_uc010waj.1_Intron|SARM1_uc010crl.1_5'Flank	p.G128A	NM_000638	NP_000629	WXS	Illumina GAIIx	Phase_I	P04004	VTNC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	2	532	-	all_lung(13;0.000533)|Lung NSC(42;0.00171)		128					B2R7G0|P01141|Q9BSH7	Missense_Mutation	SNP	ENST00000226218.4	37	c.383G>C	CCDS11229.1	.	.	.	.	.	.	.	.	.	.	C	2.814	-0.246307	0.05906	.	.	ENSG00000255604	ENST00000226218	T	0.03920	3.76	5.06	-10.1	0.00402	.	6.819190	0.00927	N	0.002665	T	0.02571	0.0078	N	0.22421	0.69	0.09310	N	1	B	0.30406	0.278	B	0.24974	0.057	T	0.28776	-1.0033	10	0.09590	T	0.72	5.0E-4	7.3288	0.26571	0.0837:0.2305:0.0829:0.603	.	128	P04004	VTNC_HUMAN	A	128	ENSP00000226218:G128A	ENSP00000226218:G128A	G	-	2	0	AC002094.1	23720801	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.336000	0.07863	-2.335000	0.00629	-0.466000	0.05196	GGC		0.627	VTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255680.2	NM_000638		21	34	0	0	0	1	0	21	34				
GPR174	84636	broad.mit.edu	37	X	78426795	78426795	+	Silent	SNP	G	G	A			TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chrX:78426795G>A	ENST00000276077.1	+	1	327	c.291G>A	c.(289-291)ctG>ctA	p.L97L		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	97						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						GTTTCTACCTGAAGTATGTCA	0.448										HNSCC(63;0.18)																												uc004edg.1																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						c.(289-291)ctG>ctA		Homo sapiens G protein-coupled receptor 174 (GPR174), mRNA.							152.0	127.0	136.0					X																	78426795		2203	4300	6503	SO:0001819	synonymous_variant	84636					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78426795G>A	AF345567	CCDS14443.1	Xq13.3	2012-08-21			ENSG00000147138	ENSG00000147138		"""GPCR / Class A : Orphans"""	30245	protein-coding gene	gene with protein product		300903					Standard	NM_032553		Approved	FKSG79	uc004edg.1	Q9BXC1	OTTHUMG00000021898	ENST00000276077.1:c.291G>A	X.37:g.78426795G>A		HNSCC(63;0.18)	Somatic					p.L97L	NM_032553	NP_115942	WXS	Illumina GAIIx	Phase_I	Q9BXC1	GP174_HUMAN			0	327	+			97					Q2M3F7	Silent	SNP	ENST00000276077.1	37	c.291G>A	CCDS14443.1																																																																																				0.448	GPR174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057327.1	NM_032553		48	71	0	0	0	1	0	48	71				
RNFT1	51136	broad.mit.edu	37	17	58034708	58034708	+	Silent	SNP	T	T	C			TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr17:58034708T>C	ENST00000305783.8	-	6	937	c.882A>G	c.(880-882)caA>caG	p.Q294Q	RNFT1_ENST00000442346.2_3'UTR|RP11-178C3.1_ENST00000591035.1_Intron	NM_016125.3	NP_057209.3	Q5M7Z0	RNFT1_HUMAN	ring finger protein, transmembrane 1	294						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;7.95e-12)|all cancers(12;1.34e-10)			TTCGGTAGTATTGACACAATT	0.368																																						uc002iya.3																			0				large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(880-882)caA>caG		Homo sapiens ring finger protein, transmembrane 1 (RNFT1), mRNA.							76.0	67.0	70.0					17																	58034708		1833	4089	5922	SO:0001819	synonymous_variant	51136					integral to membrane	zinc ion binding	g.chr17:58034708T>C	BC006971	CCDS11622.2	17q23.2	2013-01-09			ENSG00000189050	ENSG00000189050		"""RING-type (C3HC4) zinc fingers"""	30206	protein-coding gene	gene with protein product		615172				12477932	Standard	NM_016125		Approved	PTD016	uc002iya.3	Q5M7Z0	OTTHUMG00000148658	ENST00000305783.8:c.882A>G	17.37:g.58034708T>C			Somatic				RNFT1_uc002iyb.3_Non-coding_Transcript|RNFT1_uc002iyc.3_Silent_p.Q32Q	p.Q294Q	NM_016125	NP_057209	WXS	Illumina GAIIx	Phase_I	Q5M7Z0	RNFT1_HUMAN	Epithelial(12;7.95e-12)|all cancers(12;1.34e-10)		5	975	-	all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		294					Q8N7D0|Q96IZ9|Q9Y686	Silent	SNP	ENST00000305783.8	37	c.882A>G	CCDS11622.2																																																																																				0.368	RNFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308958.1	NM_016125		37	42	0	0	0	1	0	37	42				
SEC22C	9117	broad.mit.edu	37	3	42597460	42597460	+	Silent	SNP	G	G	A			TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr3:42597460G>A	ENST00000264454.3	-	6	816	c.673C>T	c.(673-675)Ctg>Ttg	p.L225L	SEC22C_ENST00000273156.7_Silent_p.L225L|SEC22C_ENST00000417572.1_Silent_p.L225L|SEC22C_ENST00000423701.2_Intron|SEC22C_ENST00000536332.1_Silent_p.L155L			Q9BRL7	SC22C_HUMAN	SEC22 vesicle trafficking protein homolog C (S. cerevisiae)	225					ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)	3				KIRC - Kidney renal clear cell carcinoma(284;0.222)		AGAAAAGCCAGAATGTTTCCA	0.383																																						uc003clj.3																			0				endometrium(1)|large_intestine(2)	3						c.(673-675)Ctg>Ttg		Homo sapiens SEC22 vesicle trafficking protein homolog C (S. cerevisiae) (SEC22C), transcript variant 1, mRNA.							117.0	102.0	107.0					3																	42597460		2203	4300	6503	SO:0001819	synonymous_variant	9117				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane		g.chr3:42597460G>A	AF039568	CCDS2699.1, CCDS2700.1, CCDS56246.1	3p24.3-p22.1	2006-04-25	2006-04-25	2006-04-25	ENSG00000093183	ENSG00000093183			16828	protein-coding gene	gene with protein product		604028	"""SEC22 vesicle trafficking protein-like 3 (S. cerevisiae)"""	SEC22L3		9501016, 11001058	Standard	NM_004206		Approved	MGC13261, MGC5373	uc003clj.3	Q9BRL7	OTTHUMG00000131797	ENST00000264454.3:c.673C>T	3.37:g.42597460G>A			Somatic				SEC22C_uc003clh.3_Silent_p.L225L|SEC22C_uc010hic.3_Intron|SEC22C_uc011azo.2_Silent_p.L155L|SEC22C_uc003cli.3_Silent_p.L225L	p.L225L	NM_032970	NP_116752	WXS	Illumina GAIIx	Phase_I	Q9BRL7	SC22C_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.222)	5	883	-			225					O95152|Q68CX3|Q6UW18	Silent	SNP	ENST00000264454.3	37	c.673C>T	CCDS2700.1	.	.	.	.	.	.	.	.	.	.	G	8.397	0.841162	0.16891	.	.	ENSG00000093183	ENST00000451653	.	.	.	5.2	-0.151	0.13411	.	.	.	.	.	T	0.40498	0.1119	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	T	0.23655	-1.0182	4	.	.	.	-30.8509	1.2999	0.02077	0.2252:0.2097:0.3881:0.177	.	.	.	.	F	146	.	.	S	-	2	0	SEC22C	42572464	0.097000	0.21791	0.992000	0.48379	0.966000	0.64601	0.148000	0.16224	0.027000	0.15297	0.650000	0.86243	TCT		0.383	SEC22C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254734.1	NM_004206		22	28	0	0	0	1	0	22	28				
SERPINH1	871	broad.mit.edu	37	11	75277986	75277986	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr11:75277986G>A	ENST00000524558.1	+	2	2027	c.592G>A	c.(592-594)Gcc>Acc	p.A198T	SERPINH1_ENST00000530284.1_Missense_Mutation_p.A198T|SERPINH1_ENST00000358171.3_Missense_Mutation_p.A198T|SERPINH1_ENST00000525876.1_5'Flank|SERPINH1_ENST00000533603.1_Missense_Mutation_p.A198T			P50454	SERPH_HUMAN	serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)	198					chondrocyte development involved in endochondral bone morphogenesis (GO:0003433)|collagen biosynthetic process (GO:0032964)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|protein maturation (GO:0051604)|regulation of proteolysis (GO:0030162)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					CACGGACGGCGCCCTGCTAGT	0.657																																						uc001owr.3																			0				endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15						c.(592-594)Gcc>Acc		Homo sapiens serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) (SERPINH1), transcript variant 2, mRNA.							30.0	29.0	29.0					11																	75277986		2196	4286	6482	SO:0001583	missense	871				regulation of proteolysis|response to unfolded protein	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	collagen binding|serine-type endopeptidase inhibitor activity	g.chr11:75277986G>A	X61598	CCDS8239.1	11q13.5	2014-02-18	2005-08-18		ENSG00000149257	ENSG00000149257		"""Serine (or cysteine) peptidase inhibitors"""	1546	protein-coding gene	gene with protein product		600943	"""serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 2"", ""serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)"""	CBP1, CBP2, SERPINH2		7656593, 9533029, 24172014	Standard	NM_001207014		Approved	HSP47, colligen	uc001owr.3	P50454	OTTHUMG00000165362	ENST00000524558.1:c.592G>A	11.37:g.75277986G>A	ENSP00000434412:p.Ala198Thr		Somatic				SERPINH1_uc009yuf.3_Missense_Mutation_p.A198T|SERPINH1_uc009yug.3_Missense_Mutation_p.A198T|SERPINH1_uc001ows.3_Missense_Mutation_p.A198T|SERPINH1_uc001owt.3_5'Flank	p.A198T	NM_001235	NP_001226	WXS	Illumina GAIIx	Phase_I	P50454	SERPH_HUMAN			1	890	+	Ovarian(111;0.11)		198					B3KVJ3|P29043|Q5XPB4|Q6NSJ6|Q8IY96|Q9NP88	Missense_Mutation	SNP	ENST00000524558.1	37	c.592G>A	CCDS8239.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.349727	0.82132	.	.	ENSG00000149257	ENST00000533603;ENST00000358171;ENST00000526397;ENST00000421448;ENST00000530284;ENST00000532356;ENST00000524558;ENST00000525611;ENST00000528760	D;D;D;D;D;D;D;D	0.84660	-1.88;-1.88;-1.88;-1.88;-1.88;-1.88;-1.88;-1.88	4.66	4.66	0.58398	Serpin domain (3);	0.000000	0.85682	D	0.000000	D	0.91476	0.7309	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72982	0.977;0.979	D	0.92557	0.6055	10	0.72032	D	0.01	.	15.0624	0.71964	0.0:0.0:1.0:0.0	.	198;198	E9PPV6;P50454	.;SERPH_HUMAN	T	198;198;198;177;198;198;198;198;198	ENSP00000434657:A198T;ENSP00000350894:A198T;ENSP00000434964:A198T;ENSP00000436305:A198T;ENSP00000436040:A198T;ENSP00000434412:A198T;ENSP00000435452:A198T;ENSP00000437108:A198T	ENSP00000350894:A198T	A	+	1	0	SERPINH1	74955634	1.000000	0.71417	0.709000	0.30452	0.758000	0.43043	7.826000	0.86716	2.140000	0.66376	0.563000	0.77884	GCC		0.657	SERPINH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383610.1	NM_004353		29	45	0	0	0	1	0	29	45				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		33	68	0	0	0	1	0	33	68				
ADAM8	101	broad.mit.edu	37	10	135084771	135084771	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr10:135084771T>C	ENST00000445355.3	-	13	1357	c.1307A>G	c.(1306-1308)aAc>aGc	p.N436S	ADAM8_ENST00000415217.3_Missense_Mutation_p.N436S|ADAM8_ENST00000485491.2_Missense_Mutation_p.N397S|ADAM8_ENST00000559180.1_5'Flank	NM_001109.4	NP_001100.3	P78325	ADAM8_HUMAN	ADAM metallopeptidase domain 8	436	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				activation of MAPK activity involved in innate immune response (GO:0035419)|angiogenesis (GO:0001525)|cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|leukocyte migration involved in inflammatory response (GO:0002523)|lymphocyte chemotaxis (GO:0048247)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell adhesion (GO:0045785)|positive regulation of eosinophil migration (GO:2000418)|positive regulation of fibronectin-dependent thymocyte migration (GO:2000415)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of neutrophil extravasation (GO:2000391)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein processing (GO:0010954)|positive regulation of protein secretion (GO:0050714)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000309)|regulation of cell-cell adhesion (GO:0022407)|single organismal cell-cell adhesion (GO:0016337)	alpha9-beta1 integrin-ADAM8 complex (GO:0071133)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dense core granule membrane (GO:0032127)|integral component of plasma membrane (GO:0005887)|phagolysosome (GO:0032010)|plasma membrane (GO:0005886)|podosome (GO:0002102)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein self-association (GO:0043621)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		GGTGGTAGAGTTGCAGCAGCG	0.706																																						uc021qbe.1																			0				central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17						c.(1306-1308)aAc>aGc		Homo sapiens ADAM metallopeptidase domain 8 (ADAM8), transcript variant 1, mRNA.							26.0	27.0	27.0					10																	135084771		2188	4292	6480	SO:0001583	missense	101				integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity	g.chr10:135084771T>C	D26579	CCDS31319.2, CCDS58102.1, CCDS58103.1	10q26.3	2014-03-20	2005-08-18		ENSG00000151651	ENSG00000151651		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	215	protein-coding gene	gene with protein product		602267	"""a disintegrin and metalloproteinase domain 8"""			9126482	Standard	NM_001109		Approved	CD156, MS2, CD156a	uc021qbe.1	P78325	OTTHUMG00000019309	ENST00000445355.3:c.1307A>G	10.37:g.135084771T>C	ENSP00000453302:p.Asn436Ser		Somatic				ADAM8_uc009ybi.3_Missense_Mutation_p.N436S|ADAM8_uc010qva.2_Missense_Mutation_p.N397S	p.N436S	NM_001109	NP_001100	WXS	Illumina GAIIx	Phase_I	B4DVM6	B4DVM6_HUMAN		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)	12	1393	-		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	397					B4DVM6|H0YL36|H0YLR0|H0YN39	Missense_Mutation	SNP	ENST00000445355.3	37	c.1307A>G	CCDS31319.2																																																																																				0.706	ADAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051118.4	NM_001109		12	18	0	0	0	1	0	12	18				
KRTAP9-3	83900	broad.mit.edu	37	17	39388991	39388991	+	Missense_Mutation	SNP	T	T	G	rs371187451		TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr17:39388991T>G	ENST00000411528.2	+	1	277	c.238T>G	c.(238-240)Tgc>Ggc	p.C80G		NM_031962.2	NP_114168.1	Q9BYQ3	KRA93_HUMAN	keratin associated protein 9-3	80	16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI].					keratin filament (GO:0045095)				breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1)	8		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			TAGCACACCCTGCTGCCAGCC	0.587																																						uc021txg.1																			0				breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1)	8						c.(238-240)Tgc>Ggc		Homo sapiens keratin associated protein 9-3 (KRTAP9-3), mRNA.							86.0	88.0	87.0					17																	39388991		2095	4300	6395	SO:0001583	missense	83900					keratin filament	protein binding	g.chr17:39388991T>G	AJ406947	CCDS11385.1	17q21.2	2013-06-25			ENSG00000204873	ENSG00000204873		"""Keratin associated proteins"""	16927	protein-coding gene	gene with protein product						11279113	Standard	NM_031962		Approved	KAP9.3	uc021txg.1	Q9BYQ3	OTTHUMG00000133427	ENST00000411528.2:c.238T>G	17.37:g.39388991T>G	ENSP00000392189:p.Cys80Gly		Somatic					p.C80G	NM_031962	NP_114168	WXS	Illumina GAIIx	Phase_I	Q9BYQ3	KRA93_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		0	277	+		Breast(137;0.000496)	80			16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI].			Missense_Mutation	SNP	ENST00000411528.2	37	c.238T>G	CCDS11385.1	.	.	.	.	.	.	.	.	.	.	.	15.75	2.926868	0.52759	.	.	ENSG00000204873	ENST00000411528	T	0.03663	3.85	1.8	0.609	0.17575	.	.	.	.	.	T	0.08935	0.0221	M	0.75264	2.295	0.35283	D	0.781541	.	.	.	.	.	.	T	0.17228	-1.0376	7	0.56958	D	0.05	.	5.267	0.15605	0.2563:0.0:0.0:0.7437	.	.	.	.	G	80	ENSP00000392189:C80G	ENSP00000392189:C80G	C	+	1	0	KRTAP9-3	36642517	0.930000	0.31532	0.697000	0.30258	0.888000	0.51559	1.378000	0.34328	0.157000	0.19338	0.321000	0.21382	TGC		0.587	KRTAP9-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257290.1			46	61	0	0	0	1	0	46	61				
DDX39A	10212	broad.mit.edu	37	19	14523412	14523412	+	Missense_Mutation	SNP	G	G	A	rs374281705		TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr19:14523412G>A	ENST00000242776.4	-	3	388	c.287C>T	c.(286-288)gCg>gTg	p.A96V	DDX39A_ENST00000592927.1_5'Flank|DDX39A_ENST00000454233.2_Missense_Mutation_p.A96V	NM_005804.3	NP_005795.2	O00148	DX39A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A	96	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|kidney(1)|lung(2)|ovary(1)|pancreas(1)	11						CACGAAGACCGCTGTCTTGCC	0.642																																						uc010xnp.2																			0				NS(1)|endometrium(5)|kidney(1)|lung(2)|ovary(1)|pancreas(1)	11						c.(286-288)gCg>gTg		Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A (DDX39A), transcript variant 1, mRNA.		G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	87.0	65.0	73.0		287	3.7	0.0	19		73	0,8600		0,0,4300	no	missense	DDX39A	NM_005804.3	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	96/428	14523412	1,13005	2203	4300	6503	SO:0001583	missense	10212				mRNA export from nucleus|nuclear mRNA splicing, via spliceosome	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr19:14523412G>A	U90426	CCDS12308.1	19p13.12	2011-02-08	2011-02-08	2011-02-08	ENSG00000123136	ENSG00000123136		"""DEAD-boxes"""	17821	protein-coding gene	gene with protein product	"""UAP56-related helicase, 49 kDa"""		"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 39"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 39"""	DDX39		7601445	Standard	NM_005804		Approved	DDXL, BAT1L, URH49	uc002myo.3	O00148		ENST00000242776.4:c.287C>T	19.37:g.14523412G>A	ENSP00000242776:p.Ala96Val		Somatic				DDX39A_uc002myo.3_Missense_Mutation_p.A96V|DDX39A_uc010dzl.3_Non-coding_Transcript|DDX39A_uc010dzm.1_Missense_Mutation_p.A96V	p.A96V	NM_005804	NP_005795	WXS	Illumina GAIIx	Phase_I	O00148	DX39A_HUMAN			3	498	-			96			Helicase ATP-binding.		Q8N5M0|Q9BVP6|Q9H5W0	Missense_Mutation	SNP	ENST00000242776.4	37	c.287C>T	CCDS12308.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.758792	0.69763	2.27E-4	0.0	ENSG00000123136	ENST00000451994;ENST00000242776;ENST00000324340;ENST00000454233	T;T;T	0.39592	1.07;1.07;1.07	4.75	3.72	0.42706	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.60353	0.2262	M	0.77406	2.37	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.63877	0.919;0.836	T	0.64241	-0.6454	10	0.87932	D	0	-25.0003	10.6783	0.45799	0.095:0.0:0.905:0.0	.	96;96	B1Q2N1;O00148	.;DX39A_HUMAN	V	139;96;96;96	ENSP00000242776:A96V;ENSP00000322749:A96V;ENSP00000392929:A96V	ENSP00000242776:A96V	A	-	2	0	DDX39A	14384412	1.000000	0.71417	0.013000	0.15412	0.606000	0.37113	8.991000	0.93514	0.996000	0.38943	0.491000	0.48974	GCG		0.642	DDX39A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459880.1	NM_138998		13	53	0	0	0	1	0	13	53				
GRIN2A	2903	broad.mit.edu	37	16	9923438	9923438	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr16:9923438C>A	ENST00000396573.2	-	10	2158	c.1849G>T	c.(1849-1851)Gtg>Ttg	p.V617L	GRIN2A_ENST00000404927.2_Missense_Mutation_p.V617L|GRIN2A_ENST00000535259.1_Missense_Mutation_p.V460L|GRIN2A_ENST00000562109.1_Missense_Mutation_p.V617L|GRIN2A_ENST00000330684.3_Missense_Mutation_p.V617L|GRIN2A_ENST00000396575.2_Missense_Mutation_p.V617L	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	617					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGGACAGGCACGGAGTTATTG	0.488																																						uc002czo.4																			0				NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(1849-1851)Gtg>Ttg		Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 1, mRNA.	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						100.0	88.0	92.0					16																	9923438		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9923438C>A		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.1849G>T	16.37:g.9923438C>A	ENSP00000379818:p.Val617Leu		Somatic				GRIN2A_uc010uym.2_Missense_Mutation_p.V617L|GRIN2A_uc010uyn.2_Missense_Mutation_p.V460L|GRIN2A_uc002czr.4_Missense_Mutation_p.V617L	p.V617L	NM_001134407	NP_001127879	WXS	Illumina GAIIx	Phase_I	Q12879	NMDE1_HUMAN			8	2397	-			617					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.1849G>T	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	C	30	5.053032	0.93793	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58	5.27	5.27	0.74061	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.70263	0.3204	M	0.64567	1.98	0.80722	D	1	D;D;D	0.69078	0.986;0.989;0.997	D;D;D	0.80764	0.932;0.941;0.994	T	0.69476	-0.5135	9	.	.	.	.	17.9016	0.88906	0.0:1.0:0.0:0.0	.	460;617;617	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	L	617;617;460;617;617	ENSP00000379818:V617L;ENSP00000385872:V617L;ENSP00000441572:V460L;ENSP00000332549:V617L;ENSP00000379820:V617L	.	V	-	1	0	GRIN2A	9830939	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.681000	0.84073	2.465000	0.83290	0.655000	0.94253	GTG		0.488	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			32	59	0	0	0	1	0	32	59				
DNAJC1	64215	broad.mit.edu	37	10	22048118	22048118	+	Missense_Mutation	SNP	C	C	T	rs199787384		TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr10:22048118C>T	ENST00000376980.3	-	11	1867	c.1577G>A	c.(1576-1578)tGt>tAt	p.C526Y	DNAJC1_ENST00000483085.1_5'Flank	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	526	SANT 2. {ECO:0000255|PROSITE- ProRule:PRU00624}.				negative regulation of proteolysis (GO:0045861)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)|regulation of protein secretion (GO:0050708)|regulation of translation (GO:0006417)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				GGACGGGACACATCTGGCTAT	0.547																																						uc001irc.3																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21						c.(1576-1578)tGt>tAt		Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 1 (DNAJC1), mRNA.							137.0	138.0	138.0					10																	22048118		2203	4300	6503	SO:0001583	missense	64215				negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding	g.chr10:22048118C>T	AK026062	CCDS7136.1	10p11.23	2011-09-02			ENSG00000136770	ENSG00000136770		"""Heat shock proteins / DNAJ (HSP40)"""	20090	protein-coding gene	gene with protein product		611207					Standard	NM_022365		Approved	DNAJL1, ERdj1, MTJ1	uc001irc.3	Q96KC8	OTTHUMG00000017800	ENST00000376980.3:c.1577G>A	10.37:g.22048118C>T	ENSP00000366179:p.Cys526Tyr		Somatic					p.C526Y	NM_022365	NP_071760	WXS	Illumina GAIIx	Phase_I	Q96KC8	DNJC1_HUMAN			10	1864	-		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)	526			SANT 2.		B0YIZ8|Q5VX89|Q9H6B8	Missense_Mutation	SNP	ENST00000376980.3	37	c.1577G>A	CCDS7136.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.166663	0.38217	.	.	ENSG00000136770	ENST00000376980	T	0.39997	1.05	5.94	5.94	0.96194	Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);SANT, eukarya (1);	0.115149	0.64402	D	0.000010	T	0.53658	0.1810	L	0.42529	1.33	0.80722	D	1	D;P	0.56746	0.977;0.852	P;P	0.59171	0.853;0.469	T	0.52902	-0.8513	10	0.87932	D	0	-4.244	15.9136	0.79491	0.1358:0.8642:0.0:0.0	.	247;526	Q96NY3;Q96KC8	.;DNJC1_HUMAN	Y	526	ENSP00000366179:C526Y	ENSP00000366179:C526Y	C	-	2	0	DNAJC1	22088124	1.000000	0.71417	0.977000	0.42913	0.056000	0.15407	4.684000	0.61686	2.826000	0.97356	0.561000	0.74099	TGT		0.547	DNAJC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047149.1	NM_022365		85	137	0	0	0	1	0	85	137				
CENPF	1063	broad.mit.edu	37	1	214794133	214794133	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr1:214794133A>G	ENST00000366955.3	+	6	877	c.709A>G	c.(709-711)Att>Gtt	p.I237V		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0	Interaction with SNAP25 and required for localization to the cytoplasm. {ECO:0000250}.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AAGAACTCCAATTAGGAGAGA	0.438																																					Colon(80;575 1284 11000 14801 43496)	uc001hkm.3																			0				NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126						c.(709-711)Att>Gtt		Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.							96.0	107.0	103.0					1																	214794133		2203	4300	6503	SO:0001583	missense	1063				DNA replication|G2 phase of mitotic cell cycle|cell differentiation|cell division|cell proliferation|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214794133A>G	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.709A>G	1.37:g.214794133A>G	ENSP00000355922:p.Ile237Val		Somatic					p.I237V	NM_016343	NP_057427	WXS	Illumina GAIIx	Phase_I	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	5	883	+			237			Interaction with SNAP25 and required for localization to the cytoplasm (By similarity).		Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	c.709A>G	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	A	7.448	0.642033	0.14451	.	.	ENSG00000117724	ENST00000366955	T	0.21031	2.03	6.0	-7.79	0.01218	Centromere protein Cenp-F, N-terminal (1);	2.484470	0.02037	N	0.049033	T	0.08133	0.0203	.	.	.	0.09310	N	1	B	0.19935	0.04	B	0.20577	0.03	T	0.42582	-0.9443	9	0.02654	T	1	.	11.6792	0.51448	0.2175:0.3471:0.4354:0.0	.	237	P49454	CENPF_HUMAN	V	237	ENSP00000355922:I237V	ENSP00000355922:I237V	I	+	1	0	CENPF	212860756	0.000000	0.05858	0.000000	0.03702	0.954000	0.61252	-0.753000	0.04792	-1.127000	0.02925	-0.520000	0.04383	ATT		0.438	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		4	169	0	0	0	1	0	4	169				
SLC5A5	6528	broad.mit.edu	37	19	18001785	18001785	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr19:18001785C>G	ENST00000222248.3	+	14	2089	c.1742C>G	c.(1741-1743)gCc>gGc	p.A581G		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	581					cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|iodide transport (GO:0015705)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	iodide transmembrane transporter activity (GO:0015111)|sodium:iodide symporter activity (GO:0008507)			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GAAGAAGTGGCCATCCTGGAT	0.612																																					Melanoma(65;1008 1708 7910 46650)	uc002nhr.4																			0				NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						c.(1741-1743)gCc>gGc		Homo sapiens solute carrier family 5 (sodium iodide symporter), member 5 (SLC5A5), mRNA.							105.0	95.0	98.0					19																	18001785		2203	4300	6503	SO:0001583	missense	6528				cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity	g.chr19:18001785C>G		CCDS12368.1	19p13.11	2013-07-19	2013-07-19		ENSG00000105641	ENSG00000105641		"""Solute carriers"""	11040	protein-coding gene	gene with protein product		601843	"""solute carrier family 5 (sodium iodide symporter), member 5"""			9231811	Standard	NM_000453		Approved	NIS	uc002nhr.4	Q92911		ENST00000222248.3:c.1742C>G	19.37:g.18001785C>G	ENSP00000222248:p.Ala581Gly		Somatic					p.A581G	NM_000453	NP_000444	WXS	Illumina GAIIx	Phase_I	Q92911	SC5A5_HUMAN			13	2089	+			581					O43702|Q2M335|Q9NYB6	Missense_Mutation	SNP	ENST00000222248.3	37	c.1742C>G	CCDS12368.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.625030	0.28889	.	.	ENSG00000105641	ENST00000222248	D	0.86030	-2.06	4.71	2.38	0.29361	.	1.312490	0.05104	N	0.487796	T	0.75102	0.3804	L	0.34521	1.04	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.57866	-0.7737	10	0.21014	T	0.42	.	2.194	0.03906	0.2057:0.4827:0.1989:0.1127	.	581	Q92911	SC5A5_HUMAN	G	581	ENSP00000222248:A581G	ENSP00000222248:A581G	A	+	2	0	SLC5A5	17862785	0.000000	0.05858	0.001000	0.08648	0.816000	0.46133	-0.121000	0.10643	1.157000	0.42530	0.491000	0.48974	GCC		0.612	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466690.1			52	84	0	0	0	1	0	52	84				
SENP6	26054	broad.mit.edu	37	6	76385768	76385768	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr6:76385768C>G	ENST00000447266.2	+	13	2097	c.1619C>G	c.(1618-1620)aCa>aGa	p.T540R	SENP6_ENST00000370014.3_Missense_Mutation_p.T540R|SENP6_ENST00000327284.8_Missense_Mutation_p.T533R|SENP6_ENST00000541192.1_Missense_Mutation_p.T136R|SENP6_ENST00000370010.2_Missense_Mutation_p.T533R	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	540					protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				AATAAATTAACAAGTAAGTTG	0.303																																						uc003pid.4																			0				breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1618-1620)aCa>aGa		Homo sapiens SUMO1/sentrin specific peptidase 6 (SENP6), transcript variant 1, mRNA.							47.0	42.0	43.0					6																	76385768		1801	4060	5861	SO:0001583	missense	26054				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity	g.chr6:76385768C>G		CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"""SUMO1/sentrin specific protease 6"""				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.1619C>G	6.37:g.76385768C>G	ENSP00000402527:p.Thr540Arg		Somatic				SENP6_uc003pie.4_Missense_Mutation_p.T533R|SENP6_uc010kbf.3_Non-coding_Transcript|SENP6_uc003pic.2_Missense_Mutation_p.T533R|SENP6_uc003pif.1_Missense_Mutation_p.T431R	p.T540R	NM_015571	NP_056386	WXS	Illumina GAIIx	Phase_I	Q9GZR1	SENP6_HUMAN			12	2238	+		all_hematologic(105;0.189)	540					A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Missense_Mutation	SNP	ENST00000447266.2	37	c.1619C>G	CCDS47454.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.702980	0.30232	.	.	ENSG00000112701	ENST00000370010;ENST00000370014;ENST00000327284;ENST00000447266;ENST00000424947;ENST00000541192	T;T;T;T;T;T	0.32753	2.69;2.69;1.44;2.69;1.45;1.49	4.35	2.48	0.30137	.	0.621168	0.16117	N	0.228830	T	0.08447	0.0210	L	0.44542	1.39	0.28300	N	0.923144	B;B;B	0.15473	0.004;0.003;0.013	B;B;B	0.17433	0.004;0.003;0.018	T	0.22836	-1.0205	10	0.23302	T	0.38	-6.8862	4.5962	0.12330	0.2195:0.6681:0.0:0.1124	.	533;540;533	Q9GZR1-2;Q9GZR1;F8W6D9	.;SENP6_HUMAN;.	R	533;540;533;540;430;136	ENSP00000359027:T533R;ENSP00000359031:T540R;ENSP00000321820:T533R;ENSP00000402527:T540R;ENSP00000391426:T430R;ENSP00000441715:T136R	ENSP00000321820:T533R	T	+	2	0	SENP6	76442488	0.998000	0.40836	0.987000	0.45799	0.877000	0.50540	0.556000	0.23438	1.131000	0.42111	0.650000	0.86243	ACA		0.303	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2	NM_015571		9	26	0	0	0	1	0	9	26				
LAMB1	3912	broad.mit.edu	37	7	107594163	107594163	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr7:107594163C>T	ENST00000222399.6	-	22	3121	c.2891G>A	c.(2890-2892)gGc>gAc	p.G964D	LAMB1_ENST00000393561.1_Missense_Mutation_p.G988D	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	964	Laminin EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						TGATGGATTGCCAAAGTATCC	0.502																																						uc003vev.2																			0				NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						c.(2962-2964)gGc>gAc		Homo sapiens laminin, beta 1 (LAMB1), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						120.0	105.0	110.0					7																	107594163		2203	4300	6503	SO:0001583	missense	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107594163C>T	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.2891G>A	7.37:g.107594163C>T	ENSP00000222399:p.Gly964Asp		Somatic				LAMB1_uc003vew.2_Missense_Mutation_p.G964D	p.G988D	NM_002291	NP_002282	WXS	Illumina GAIIx	Phase_I	P07942	LAMB1_HUMAN			19	3124	-			964			Laminin EGF-like 10.		Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	c.2963G>A	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.908323	0.92107	.	.	ENSG00000091136	ENST00000393561;ENST00000222399	T;T	0.66099	-0.19;-0.19	5.01	5.01	0.66863	EGF-like, laminin (4);	.	.	.	.	D	0.86678	0.5990	H	0.96691	3.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90898	0.4766	9	0.87932	D	0	.	18.8729	0.92324	0.0:1.0:0.0:0.0	.	964;988	P07942;G3XAI2	LAMB1_HUMAN;.	D	988;964	ENSP00000377191:G988D;ENSP00000222399:G964D	ENSP00000222399:G964D	G	-	2	0	LAMB1	107381399	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	7.651000	0.83577	2.763000	0.94921	0.650000	0.86243	GGC		0.502	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		8	119	0	0	0	1	0	8	119				
MICAL3	57553	broad.mit.edu	37	22	18314678	18314679	+	In_Frame_Ins	INS	-	-	TCC	rs374621205|rs377466404|rs374869878		TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr22:18314678_18314679insTCC	ENST00000441493.2	-	21	3348_3349	c.2996_2997insGGA	c.(2995-2997)gaa>gaGGAa	p.999_999E>EE		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	999	Glu-rich.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		cttcatattcttcctcctcctc	0.55																																						uc002zng.4																			0				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4						c.(2995-2997)gaa>gaGGAa		Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA.																																				SO:0001652	inframe_insertion	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18314678_18314679insTCC	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.2994_2996dupGGA	22.37:g.18314685_18314687dupTCC	ENSP00000416015:p.Glu1000dup		Somatic				MICAL3_uc011agl.2_In_Frame_Ins_p.999_999E>EE	p.999_999E>EE	NM_015241	NP_056056	WXS	Illumina GAIIx	Phase_I	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	20	3349_3350	-		all_epithelial(15;0.198)	999			Glu-rich.		B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	In_Frame_Ins	INS	ENST00000441493.2	37	c.2996_2997insGGA	CCDS46659.1																																																																																				0.550	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			6	2						6	2	---	---	---	---
