#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
MYOM2	9172	broad.mit.edu	37	8	2040223	2040223	+	Silent	SNP	G	G	A	rs574414781		TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr8:2040223G>A	ENST00000262113.4	+	16	2019	c.1878G>A	c.(1876-1878)acG>acA	p.T626T	MYOM2_ENST00000523438.1_Silent_p.T51T	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	626	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		ACACCAAGACGTCGGTGGTGG	0.572													G|||	1	0.000199681	0.0	0.0	5008	,	,		18763	0.0		0.0	False		,,,				2504	0.001					uc003wpx.4																			0				autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104						c.(1876-1878)acG>acA		Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.							196.0	181.0	186.0					8																	2040223		2203	4300	6503	SO:0001819	synonymous_variant	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2040223G>A		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.1878G>A	8.37:g.2040223G>A			Somatic				MYOM2_uc011kwi.2_Silent_p.T51T	p.T626T	NM_003970	NP_003961	WXS	Illumina GAIIx	Phase_I	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	15	2016	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	626			Fibronectin type-III 3.		Q7Z3Y2	Silent	SNP	ENST00000262113.4	37	c.1878G>A	CCDS5957.1																																																																																				0.572	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		6	218	0	0	0	1	0	6	218				
TMEM132D	121256	broad.mit.edu	37	12	130184856	130184856	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr12:130184856C>A	ENST00000422113.2	-	2	793	c.467G>T	c.(466-468)tGg>tTg	p.W156L	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	156					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GCGGTCGTCCCAGTCTCTGCC	0.607																																						uc009zyl.1																			0				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(466-468)tGg>tTg		Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.							28.0	28.0	28.0					12																	130184856		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:130184856C>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.467G>T	12.37:g.130184856C>A	ENSP00000408581:p.Trp156Leu		Somatic					p.W156L	NM_133448	NP_597705	WXS	Illumina GAIIx	Phase_I	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	1	795	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	156					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.467G>T	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.919216	0.73098	.	.	ENSG00000151952	ENST00000422113	T	0.13089	2.62	5.33	5.33	0.75918	.	0.000000	0.64402	D	0.000015	T	0.37999	0.1024	M	0.67625	2.065	0.58432	D	0.999992	D	0.89917	1.0	D	0.91635	0.999	T	0.03818	-1.1001	9	.	.	.	-22.3852	19.0288	0.92946	0.0:1.0:0.0:0.0	.	156	Q14C87	T132D_HUMAN	L	156	ENSP00000408581:W156L	.	W	-	2	0	TMEM132D	128750809	1.000000	0.71417	0.996000	0.52242	0.303000	0.27691	7.619000	0.83057	2.472000	0.83506	0.555000	0.69702	TGG		0.607	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		13	35	0	0	0	1	0	13	35				
DMGDH	29958	broad.mit.edu	37	5	78322341	78322341	+	Missense_Mutation	SNP	A	A	C			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr5:78322341A>C	ENST00000255189.3	-	13	2124	c.2096T>G	c.(2095-2097)aTg>aGg	p.M699R	DMGDH_ENST00000380311.4_Missense_Mutation_p.M498R|DMGDH_ENST00000540686.1_Missense_Mutation_p.M319R	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	699					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		GCCTGCATTCATGATAGCGTC	0.512																																						uc003kfs.3																			0		p.M699I(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(2095-2097)aTg>aGg		Homo sapiens dimethylglycine dehydrogenase (DMGDH), nuclear gene encoding mitochondrial protein, mRNA.							106.0	96.0	99.0					5																	78322341		2203	4300	6503	SO:0001583	missense	29958				choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity	g.chr5:78322341A>C	AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.2096T>G	5.37:g.78322341A>C	ENSP00000255189:p.Met699Arg		Somatic				DMGDH_uc011cte.1_Missense_Mutation_p.M549R|DMGDH_uc011ctf.1_Missense_Mutation_p.M498R|DMGDH_uc011ctg.1_Missense_Mutation_p.M319R	p.M699R	NM_013391	NP_037523	WXS	Illumina GAIIx	Phase_I	Q9UI17	M2GD_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)	12	2102	-		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)	699					B2RBN0|B4E1J9	Missense_Mutation	SNP	ENST00000255189.3	37	c.2096T>G	CCDS4044.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.047714	0.75846	.	.	ENSG00000132837	ENST00000255189;ENST00000523732;ENST00000380311;ENST00000540686;ENST00000539598	T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99	5.52	5.52	0.82312	Glycine cleavage T-protein, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.82811	0.5118	M	0.67953	2.075	0.80722	D	1	D;D;B;B	0.63880	0.993;0.973;0.168;0.202	P;P;B;B	0.61800	0.878;0.894;0.085;0.139	T	0.82214	-0.0568	10	0.36615	T	0.2	.	15.6338	0.76933	1.0:0.0:0.0:0.0	.	319;498;549;699	B4E1J9;F8W6P8;F5H1C7;Q9UI17	.;.;.;M2GD_HUMAN	R	699;538;498;319;549	ENSP00000255189:M699R;ENSP00000430972:M538R;ENSP00000369667:M498R;ENSP00000439478:M319R	ENSP00000255189:M699R	M	-	2	0	DMGDH	78358097	1.000000	0.71417	0.998000	0.56505	0.607000	0.37147	9.154000	0.94694	2.107000	0.64212	0.459000	0.35465	ATG		0.512	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	NM_013391		4	96	0	0	0	1	0	4	96				
NLRP8	126205	broad.mit.edu	37	19	56466799	56466799	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr19:56466799G>A	ENST00000291971.3	+	3	1446	c.1375G>A	c.(1375-1377)Gca>Aca	p.A459T	NLRP8_ENST00000590542.1_Missense_Mutation_p.A459T	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	459	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TCACTTGGCCGCAGACAGCAT	0.498																																						uc002qmh.3																			0				breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35						c.(1375-1377)Gca>Aca		Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.							108.0	101.0	104.0					19																	56466799		2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56466799G>A	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.1375G>A	19.37:g.56466799G>A	ENSP00000291971:p.Ala459Thr		Somatic				NLRP8_uc010etg.3_Missense_Mutation_p.A459T	p.A459T	NM_176811	NP_789781	WXS	Illumina GAIIx	Phase_I	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	2	1446	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	459			NACHT.		Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.1375G>A	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.979924	0.34942	.	.	ENSG00000179709	ENST00000291971	D	0.83837	-1.77	2.04	0.947	0.19555	.	.	.	.	.	D	0.87438	0.6177	M	0.74647	2.275	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.65010	0.928;0.931	T	0.75419	-0.3324	9	0.72032	D	0.01	.	5.6935	0.17843	0.0:0.0:0.6797:0.3203	.	459;459	Q86W28-2;Q86W28	.;NALP8_HUMAN	T	459	ENSP00000291971:A459T	ENSP00000291971:A459T	A	+	1	0	NLRP8	61158611	0.057000	0.20700	0.001000	0.08648	0.002000	0.02628	2.681000	0.46926	0.401000	0.25424	-0.426000	0.05927	GCA		0.498	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		4	118	0	0	0	1	0	4	118				
RXRA	6256	broad.mit.edu	37	9	137323832	137323832	+	Silent	SNP	C	C	T			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr9:137323832C>T	ENST00000481739.1	+	8	1177	c.1125C>T	c.(1123-1125)ctC>ctT	p.L375L	RXRA_ENST00000356384.4_3'UTR|RXRA_ENST00000540193.1_Silent_p.L278L	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha	375	Ligand-binding.				camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|cellular lipid metabolic process (GO:0044255)|cholesterol metabolic process (GO:0008203)|embryo implantation (GO:0007566)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|response to retinoic acid (GO:0032526)|retinoic acid receptor signaling pathway (GO:0048384)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|vitamin metabolic process (GO:0006766)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein heterodimerization activity (GO:0046982)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|vitamin D receptor binding (GO:0042809)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etodolac(DB00749)	CCATCGTCCTCTTTAACCCTG	0.627																																						uc004cfb.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1123-1125)ctC>ctT		Homo sapiens retinoid X receptor, alpha (RXRA), mRNA.	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)						120.0	97.0	105.0					9																	137323832		2203	4300	6503	SO:0001819	synonymous_variant	6256				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding	g.chr9:137323832C>T	X52773	CCDS35172.1	9q34	2013-01-16			ENSG00000186350	ENSG00000186350		"""Nuclear hormone receptors"""	10477	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 1"""	180245				2159111	Standard	XM_005263409		Approved	NR2B1	uc004cfa.1	P19793	OTTHUMG00000020887	ENST00000481739.1:c.1125C>T	9.37:g.137323832C>T			Somatic				RXRA_uc004cfc.1_Silent_p.L278L	p.L375L	NM_002957	NP_002948	WXS	Illumina GAIIx	Phase_I	P19793	RXRA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	7	1287	+			375			Ligand-binding.		B3KY83|Q2NL52|Q2V504	Silent	SNP	ENST00000481739.1	37	c.1125C>T	CCDS35172.1																																																																																				0.627	RXRA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054949.1	NM_002957		22	24	0	0	0	1	0	22	24				
CHST8	64377	broad.mit.edu	37	19	34263440	34263440	+	Silent	SNP	C	C	T			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr19:34263440C>T	ENST00000262622.4	+	4	1505	c.747C>T	c.(745-747)agC>agT	p.S249S	CHST8_ENST00000438847.3_Silent_p.S249S|CHST8_ENST00000434302.1_Silent_p.S249S	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	249					carbohydrate biosynthetic process (GO:0016051)|central nervous system development (GO:0007417)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					ACCGTCTCAGCACCTACACCA	0.602																																						uc002nus.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27						c.(745-747)agC>agT		Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 (CHST8), transcript variant 2, mRNA.							129.0	115.0	119.0					19																	34263440		2203	4300	6503	SO:0001819	synonymous_variant	64377				carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr19:34263440C>T	AB047801	CCDS12433.1	19q13.1	2008-02-05				ENSG00000124302		"""Sulfotransferases, membrane-bound"""	15993	protein-coding gene	gene with protein product		610190				10988300, 11001942	Standard	NM_001127895		Approved	GALNAC-4-ST1	uc002nut.4	Q9H2A9		ENST00000262622.4:c.747C>T	19.37:g.34263440C>T			Somatic				CHST8_uc002nut.4_Silent_p.S249S|CHST8_uc002nuu.3_Silent_p.S249S	p.S249S	NM_001127895	NP_071912	WXS	Illumina GAIIx	Phase_I	Q9H2A9	CHST8_HUMAN			4	1252	+	Esophageal squamous(110;0.162)		249					Q9H3N2	Silent	SNP	ENST00000262622.4	37	c.747C>T	CCDS12433.1																																																																																				0.602	CHST8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451453.1	NM_022467		8	108	0	0	0	1	0	8	108				
SCAP	22937	broad.mit.edu	37	3	47470042	47470042	+	Missense_Mutation	SNP	T	T	A			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr3:47470042T>A	ENST00000265565.5	-	4	783	c.371A>T	c.(370-372)cAa>cTa	p.Q124L	SCAP_ENST00000441517.2_Intron|SCAP_ENST00000545718.1_Intron	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	124					aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CTCCACCAGTTGGAATGCCCG	0.527																																					Pancreas(149;978 1908 29304 37806 46700)	uc003crh.1																			0				endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26						c.(370-372)cAa>cTa		Homo sapiens SREBF chaperone (SCAP), mRNA.							160.0	149.0	153.0					3																	47470042		2203	4300	6503	SO:0001583	missense	22937				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	ER to Golgi transport vesicle membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	unfolded protein binding	g.chr3:47470042T>A	BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"""WD repeat domain containing"""	30634	protein-coding gene	gene with protein product	"""SREBP cleavage activating protein"""	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.371A>T	3.37:g.47470042T>A	ENSP00000265565:p.Gln124Leu		Somatic				SCAP_uc011baz.1_Intron|SCAP_uc003crg.2_Intron	p.Q124L	NM_012235	NP_036367	WXS	Illumina GAIIx	Phase_I	Q12770	SCAP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)	3	626	-			124					Q8N2E0|Q8WUA1	Missense_Mutation	SNP	ENST00000265565.5	37	c.371A>T	CCDS2755.2	.	.	.	.	.	.	.	.	.	.	T	14.66	2.602794	0.46423	.	.	ENSG00000114650	ENST00000339815;ENST00000265565;ENST00000416847;ENST00000495603	T	0.80033	-1.33	5.81	5.81	0.92471	.	0.135790	0.53938	D	0.000058	T	0.70116	0.3187	N	0.25647	0.755	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.66400	-0.5933	10	0.51188	T	0.08	-19.5949	11.7752	0.51981	0.0:0.0:0.1468:0.8532	.	124	Q12770	SCAP_HUMAN	L	124	ENSP00000265565:Q124L	ENSP00000265565:Q124L	Q	-	2	0	SCAP	47445046	1.000000	0.71417	1.000000	0.80357	0.599000	0.36880	1.835000	0.39181	2.210000	0.71456	0.533000	0.62120	CAA		0.527	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235		7	201	0	0	0	1	0	7	201				
KAT8	84148	broad.mit.edu	37	16	31141896	31141896	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr16:31141896T>C	ENST00000543774.2	+	10	1461	c.1126T>C	c.(1126-1128)Ttc>Ctc	p.F376L	KAT8_ENST00000219797.4_Missense_Mutation_p.F376L|KAT8_ENST00000448516.2_Missense_Mutation_p.F376L|RP11-388M20.2_ENST00000563605.1_RNA			Q9H7Z6	KAT8_HUMAN	K(lysine) acetyltransferase 8	376	MYST-type HAT.|Sufficient for interaction with KANSL1.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|myeloid cell differentiation (GO:0030099)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	histone acetyltransferase complex (GO:0000123)|kinetochore (GO:0000776)|MLL1 complex (GO:0071339)|MSL complex (GO:0072487)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|transcription factor binding (GO:0008134)										CCTGCGGGACTTCCGGGGCAC	0.647																																						uc002eax.3																			0											c.(1126-1128)Ttc>Ctc		Homo sapiens K(lysine) acetyltransferase 8 (KAT8), transcript variant 2, mRNA.							46.0	47.0	47.0					16																	31141896		2197	4300	6497	SO:0001583	missense	84148				histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex|MSL complex	histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding	g.chr16:31141896T>C	AF217501	CCDS10706.1, CCDS45468.1	16p11.1	2013-01-10	2011-07-21	2011-07-21	ENSG00000103510	ENSG00000103510	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	17933	protein-coding gene	gene with protein product		609912	"""MYST histone acetyltransferase 1"""	MYST1		10786633	Standard	NM_032188		Approved	MOF, FLJ14040, hMOF, ZC2HC8	uc002eax.3	Q9H7Z6	OTTHUMG00000132410	ENST00000543774.2:c.1126T>C	16.37:g.31141896T>C	ENSP00000456933:p.Phe376Leu		Somatic				KAT8_uc002eay.3_Missense_Mutation_p.F376L|KAT8_uc002eaz.3_Missense_Mutation_p.F218L|KAT8_uc002eba.3_Missense_Mutation_p.F160L	p.F376L	NM_182958	NP_892003	WXS	Illumina GAIIx	Phase_I	Q9H7Z6	MYST1_HUMAN			8	1144	+			376					A8K4Z1|G5E9P2|Q659G0|Q7LC17|Q8IY59|Q8WYB4|Q8WZ14|Q9HAC5|Q9NR35	Missense_Mutation	SNP	ENST00000543774.2	37	c.1126T>C	CCDS10706.1	.	.	.	.	.	.	.	.	.	.	t	15.52	2.857210	0.51376	.	.	ENSG00000103510	ENST00000219797;ENST00000448516	.	.	.	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.43678	0.1258	L	0.33189	0.99	0.80722	D	1	B;B;B	0.11235	0.001;0.002;0.004	B;B;B	0.06405	0.002;0.002;0.002	T	0.31833	-0.9929	9	0.10377	T	0.69	-20.6273	13.6347	0.62215	0.0:0.0:0.0:1.0	.	376;376;376	Q9H7Z6-2;Q9H7Z6;G5E9P2	.;KAT8_HUMAN;.	L	376	.	ENSP00000219797:F376L	F	+	1	0	KAT8	31049397	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.514000	0.81750	2.075000	0.62263	0.454000	0.30748	TTC		0.647	KAT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000255546.3	NM_032188		17	39	0	0	0	1	0	17	39				
SPTAN1	6709	broad.mit.edu	37	9	131355261	131355261	+	Splice_Site	SNP	G	G	A			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr9:131355261G>A	ENST00000372731.4	+	23	3265		c.e23-1		SPTAN1_ENST00000372739.3_Splice_Site|SPTAN1_ENST00000358161.5_Splice_Site	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1						actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CCTCTGTGCAGGACACGCATA	0.532																																					NSCLC(120;833 1744 2558 35612 37579)	uc004bvm.4																			0				NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						c.e23-1		Homo sapiens spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) (SPTAN1), transcript variant 1, mRNA.							76.0	60.0	66.0					9																	131355261		2203	4300	6503	SO:0001630	splice_region_variant	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131355261G>A	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.3156-1G>A	9.37:g.131355261G>A			Somatic				SPTAN1_uc011mbg.2_Intron|SPTAN1_uc011mbh.2_Splice_Site_p.Q1064_splice|SPTAN1_uc004bvl.4_Splice_Site_p.Q1052_splice|SPTAN1_uc004bvn.4_Intron	p.Q1052_splice	NM_001130438	NP_001123910	WXS	Illumina GAIIx	Phase_I	Q13813	SPTA2_HUMAN			23	3298	+			1052					Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Splice_Site	SNP	ENST00000372731.4	37	c.3156_splice	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.998181	0.74818	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7891	0.91966	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SPTAN1	130395082	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.232000	0.89796	2.761000	0.94854	0.591000	0.81541	.		0.532	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127	Intron	3	13	0	0	0	1	0	3	13				
LIN54	132660	broad.mit.edu	37	4	83857237	83857237	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr4:83857237G>C	ENST00000340417.3	-	11	2119	c.1742C>G	c.(1741-1743)cCt>cGt	p.P581R	LIN54_ENST00000505397.1_Missense_Mutation_p.P581R|LIN54_ENST00000395283.2_Missense_Mutation_p.P492R|LIN54_ENST00000446851.2_Missense_Mutation_p.P360R|LIN54_ENST00000510557.1_Missense_Mutation_p.P360R|LIN54_ENST00000395282.2_3'UTR|LIN54_ENST00000442461.2_Missense_Mutation_p.P360R|LIN54_ENST00000506560.1_Missense_Mutation_p.P492R	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 DREAM MuvB core complex component	581	CRC. {ECO:0000255|PROSITE- ProRule:PRU00971}.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				CCCTATCTTAGGCTTAAAGGC	0.378																																						uc003hnx.3																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14						c.(1741-1743)cCt>cGt		Homo sapiens lin-54 homolog (C. elegans) (LIN54), transcript variant 1, mRNA.							160.0	142.0	148.0					4																	83857237		2203	4300	6503	SO:0001583	missense	132660				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr4:83857237G>C	BX537919	CCDS3599.1, CCDS47089.1, CCDS75157.1	4q21.22	2014-07-17	2014-07-17		ENSG00000189308	ENSG00000189308			25397	protein-coding gene	gene with protein product	"""CXC domain containing 1"""	613367	"""lin-54 homolog (C. elegans)"""			21498570	Standard	XM_005262749		Approved	MIP120, DKFZp686L1814, JC8.6, CXCDC1	uc003hnx.3	Q6MZP7	OTTHUMG00000130287	ENST00000340417.3:c.1742C>G	4.37:g.83857237G>C	ENSP00000341947:p.Pro581Arg		Somatic				LIN54_uc003hnz.3_Missense_Mutation_p.P360R|LIN54_uc003hny.3_Missense_Mutation_p.P180R|LIN54_uc010ijt.2_Missense_Mutation_p.P492R|LIN54_uc010iju.2_Missense_Mutation_p.P180R|LIN54_uc010ijv.2_Missense_Mutation_p.P360R	p.P581R	NM_194282	NP_919258	WXS	Illumina GAIIx	Phase_I	Q6MZP7	LIN54_HUMAN			10	2120	-		Hepatocellular(203;0.114)	581					Q32M68|Q32M69|Q6N071|Q76B60	Missense_Mutation	SNP	ENST00000340417.3	37	c.1742C>G	CCDS3599.1	.	.	.	.	.	.	.	.	.	.	G	19.61	3.860215	0.71834	.	.	ENSG00000189308	ENST00000340417;ENST00000395283;ENST00000442461;ENST00000446851;ENST00000510557;ENST00000506560;ENST00000505397	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.83385	0.5243	M	0.80982	2.52	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.998	D	0.85239	0.1037	9	0.87932	D	0	-16.2552	19.0569	0.93069	0.0:0.0:1.0:0.0	.	492;453;581	Q6MZP7-2;Q7Z3G2;Q6MZP7	.;.;LIN54_HUMAN	R	581;492;360;360;360;492;581	.	ENSP00000341947:P581R	P	-	2	0	LIN54	84076261	1.000000	0.71417	0.996000	0.52242	0.351000	0.29236	9.581000	0.98210	2.732000	0.93576	0.650000	0.86243	CCT		0.378	LIN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252626.2	NM_194282		17	94	0	0	0	1	0	17	94				
HLCS	3141	broad.mit.edu	37	21	38137432	38137432	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr21:38137432G>C	ENST00000399120.1	-	9	2791	c.1561C>G	c.(1561-1563)Ctt>Gtt	p.L521V	HLCS_ENST00000336648.4_Missense_Mutation_p.L521V	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	521	BPL/LPL catalytic. {ECO:0000255|PROSITE- ProRule:PRU01067}.				biotin metabolic process (GO:0006768)|cell proliferation (GO:0008283)|histone biotinylation (GO:0071110)|histone modification (GO:0016570)|protein biotinylation (GO:0009305)|response to biotin (GO:0070781)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin-[acetyl-CoA-carboxylase] ligase activity (GO:0004077)|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity (GO:0004078)|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity (GO:0004079)|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity (GO:0004080)|biotin-protein ligase activity (GO:0018271)|enzyme binding (GO:0019899)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	AGAGTAGAAAGAGCACATCCC	0.572																																						uc010gnb.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24						c.(1561-1563)Ctt>Gtt		Homo sapiens holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) (HLCS), transcript variant 3, mRNA.	Biotin(DB00121)						166.0	129.0	142.0					21																	38137432		2203	4300	6503	SO:0001583	missense	3141				cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding	g.chr21:38137432G>C		CCDS13647.1	21q22.1	2012-07-13	2010-04-30		ENSG00000159267	ENSG00000159267	6.3.4.9, 6.3.4.10, 6.3.4.11, 6.3.4.15		4976	protein-coding gene	gene with protein product		609018	"""holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)"", ""holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)"""			7842009	Standard	NM_000411		Approved	HCS	uc021wjb.1	P50747	OTTHUMG00000086636	ENST00000399120.1:c.1561C>G	21.37:g.38137432G>C	ENSP00000382071:p.Leu521Val		Somatic				HLCS_uc021wjb.1_Missense_Mutation_p.L521V|HLCS_uc002yvs.3_Missense_Mutation_p.L521V	p.L521V	NM_001242784	NP_001229713	WXS	Illumina GAIIx	Phase_I	P50747	BPL1_HUMAN			8	2975	-		Myeloproliferative disorder(46;0.0422)	521					B2RAH1|D3DSG6|Q99451	Missense_Mutation	SNP	ENST00000399120.1	37	c.1561C>G	CCDS13647.1	.	.	.	.	.	.	.	.	.	.	G	8.286	0.816556	0.16607	.	.	ENSG00000159267	ENST00000399120;ENST00000336648	D;D	0.94232	-3.38;-3.38	5.82	0.378	0.16204	Biotin/lipoate A/B protein ligase (1);	0.376195	0.27076	N	0.021044	D	0.89518	0.6738	M	0.67953	2.075	0.09310	N	1	P	0.43231	0.801	B	0.40782	0.34	T	0.82762	-0.0297	10	0.66056	D	0.02	.	3.6012	0.08026	0.1195:0.1058:0.3211:0.4537	.	521	P50747	BPL1_HUMAN	V	521	ENSP00000382071:L521V;ENSP00000338387:L521V	ENSP00000338387:L521V	L	-	1	0	HLCS	37059302	0.459000	0.25768	0.001000	0.08648	0.020000	0.10135	0.826000	0.27407	0.043000	0.15746	-0.262000	0.10625	CTT		0.572	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194687.2			4	75	0	0	0	1	0	4	75				
PSD3	23362	broad.mit.edu	37	8	18513180	18513180	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr8:18513180T>C	ENST00000327040.8	-	10	2290	c.2188A>G	c.(2188-2190)Atc>Gtc	p.I730V	PSD3_ENST00000523619.1_Missense_Mutation_p.I665V|PSD3_ENST00000286485.8_Missense_Mutation_p.I196V|PSD3_ENST00000428502.2_Missense_Mutation_p.I59V|PSD3_ENST00000440756.2_Missense_Mutation_p.I732V	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	731	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TCATTCTTGATTGAGTTGTAC	0.373																																						uc003wza.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(2188-2190)Atc>Gtc		Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA.							111.0	103.0	106.0					8																	18513180		2203	4300	6503	SO:0001583	missense	23362				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	g.chr8:18513180T>C	AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.2188A>G	8.37:g.18513180T>C	ENSP00000324127:p.Ile730Val		Somatic				PSD3_uc003wyx.4_Missense_Mutation_p.I59V|PSD3_uc003wyy.3_Missense_Mutation_p.I196V|PSD3_uc003wyz.3_Missense_Mutation_p.I31V	p.I730V	NM_015310	NP_056125	WXS	Illumina GAIIx	Phase_I	Q9NYI0	PSD3_HUMAN		Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)	9	2291	-			731			SEC7.		A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Missense_Mutation	SNP	ENST00000327040.8	37	c.2188A>G	CCDS43720.1	.	.	.	.	.	.	.	.	.	.	T	18.86	3.713769	0.68730	.	.	ENSG00000156011	ENST00000327040;ENST00000440756;ENST00000381690;ENST00000286485;ENST00000428502;ENST00000523619	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	5.52	5.52	0.82312	SEC7-like, alpha orthogonal bundle (1);SEC7-like (4);	0.000000	0.52532	U	0.000079	T	0.75961	0.3921	M	0.65975	2.015	0.51012	D	0.9999	D;D;D;D	0.69078	0.994;0.995;0.997;0.992	D;D;D;D	0.79108	0.968;0.98;0.965;0.992	T	0.78623	-0.2132	10	0.87932	D	0	.	12.0105	0.53284	0.0:0.0:0.0:1.0	.	730;731;196;59	E9KL50;Q9NYI0;Q9NYI0-3;B4DKF8	.;PSD3_HUMAN;.;.	V	730;732;59;196;59;665	ENSP00000324127:I730V;ENSP00000401704:I732V;ENSP00000286485:I196V;ENSP00000430640:I665V	ENSP00000286485:I196V	I	-	1	0	PSD3	18557460	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	5.063000	0.64332	2.097000	0.63578	0.519000	0.50382	ATC		0.373	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		3	88	0	0	0	1	0	3	88				
ZNF700	90592	broad.mit.edu	37	19	12060967	12060967	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr19:12060967G>A	ENST00000254321.5	+	4	2271	c.2128G>A	c.(2128-2130)Gga>Aga	p.G710R	ZNF763_ENST00000591944.1_Intron|ZNF700_ENST00000482090.1_Missense_Mutation_p.G692R|ZNF763_ENST00000590798.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000538752.1_Intron	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	710					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						TAAGGAATGCGGAAAAGCATT	0.383																																						uc010xme.2																		ZNF700/MAST1_ENST00000251472(2)	0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						c.(2182-2184)Gga>Aga		Homo sapiens zinc finger protein 700 (ZNF700), mRNA.							84.0	78.0	80.0					19																	12060967		2203	4300	6503	SO:0001583	missense	90592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12060967G>A	AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"""Zinc fingers, C2H2-type"", ""-"""	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.2128G>A	19.37:g.12060967G>A	ENSP00000254321:p.Gly710Arg		Somatic				ZNF700_uc002msu.3_Missense_Mutation_p.G710R|ZNF700_uc010xmf.2_Intron	p.G728R			WXS	Illumina GAIIx	Phase_I	Q9H0M5	ZN700_HUMAN			4	2373	+			710					B9EGU4	Missense_Mutation	SNP	ENST00000254321.5	37	c.2182G>A	CCDS32915.1	.	.	.	.	.	.	.	.	.	.	g	9.708	1.156403	0.21454	.	.	ENSG00000196757	ENST00000254321	T	0.21361	2.01	0.826	-1.45	0.08828	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43411	0.1246	M	0.86028	2.79	0.26756	N	0.970108	D	0.89917	1.0	D	0.75020	0.985	T	0.26224	-1.0109	9	0.54805	T	0.06	.	7.1518	0.25614	0.2422:0.0:0.7578:0.0	.	710	Q9H0M5	ZN700_HUMAN	R	710	ENSP00000254321:G710R	ENSP00000254321:G710R	G	+	1	0	ZNF700	11921967	0.997000	0.39634	0.000000	0.03702	0.050000	0.14768	1.988000	0.40697	-0.567000	0.06046	0.313000	0.20887	GGA		0.383	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2	NM_144566		3	58	0	0	0	1	0	3	58				
TSPAN8	7103	broad.mit.edu	37	12	71519144	71519144	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr12:71519144C>A	ENST00000393330.2	-	12	1236	c.684G>T	c.(682-684)atG>atT	p.M228I	TSPAN8_ENST00000247829.3_Missense_Mutation_p.M228I|TSPAN8_ENST00000546561.1_Missense_Mutation_p.M228I|TSPAN8_ENST00000552128.1_Missense_Mutation_p.M145I			P19075	TSN8_HUMAN	tetraspanin 8	228					negative regulation of blood coagulation (GO:0030195)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			AATACAGGACCATAGAAAACA	0.353																																						uc001swk.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19						c.(682-684)atG>atT		Homo sapiens tetraspanin 8 (TSPAN8), mRNA.							124.0	115.0	118.0					12																	71519144		2203	4300	6503	SO:0001583	missense	7103				protein glycosylation	integral to membrane|lysosome	signal transducer activity	g.chr12:71519144C>A	M35252	CCDS8999.1	12q14.1-q21.1	2013-02-14	2005-03-21	2005-03-21		ENSG00000127324		"""Tetraspanins"""	11855	protein-coding gene	gene with protein product		600769	"""transmembrane 4 superfamily member 3"""	TM4SF3		2395876	Standard	NM_004616		Approved	CO-029	uc001swj.1	P19075		ENST00000393330.2:c.684G>T	12.37:g.71519144C>A	ENSP00000377003:p.Met228Ile		Somatic				TSPAN8_uc009zrt.1_Missense_Mutation_p.M228I|TSPAN8_uc001swj.1_Missense_Mutation_p.M228I	p.M228I	NM_004616	NP_004607	WXS	Illumina GAIIx	Phase_I	P19075	TSN8_HUMAN	LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)		11	1237	-			228					B2R7T7|Q9BS78	Missense_Mutation	SNP	ENST00000393330.2	37	c.684G>T	CCDS8999.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.609095	0.46527	.	.	ENSG00000127324	ENST00000393330;ENST00000247829;ENST00000546561;ENST00000552128	T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21	6.16	4.27	0.50696	.	0.252557	0.49305	N	0.000143	T	0.75428	0.3848	L	0.61387	1.9	0.39786	D	0.972371	P	0.39181	0.663	B	0.41510	0.359	T	0.74893	-0.3509	10	0.30078	T	0.28	.	12.1046	0.53805	0.3307:0.6693:0.0:0.0	.	228	P19075	TSN8_HUMAN	I	228;228;228;145	ENSP00000377003:M228I;ENSP00000247829:M228I;ENSP00000447160:M228I;ENSP00000449820:M145I	ENSP00000247829:M228I	M	-	3	0	TSPAN8	69805411	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.873000	0.39558	1.590000	0.49995	0.650000	0.86243	ATG		0.353	TSPAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404737.1	NM_004616		49	73	0	0	0	1	0	49	73				
CNOT1	23019	broad.mit.edu	37	16	58560012	58560012	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr16:58560012G>A	ENST00000317147.5	-	45	6816	c.6484C>T	c.(6484-6486)Ccc>Tcc	p.P2162S	CNOT1_ENST00000245138.4_Missense_Mutation_p.P1013S|CNOT1_ENST00000569240.1_Missense_Mutation_p.P2157S	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2162					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AGAATCCGGGGAGCAATGTTA	0.378																																						uc002env.3																			0				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87						c.(6484-6486)Ccc>Tcc		Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.							112.0	111.0	111.0					16																	58560012		2198	4300	6498	SO:0001583	missense	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58560012G>A	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.6484C>T	16.37:g.58560012G>A	ENSP00000320949:p.Pro2162Ser		Somatic				CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Missense_Mutation_p.P2157S|CNOT1_uc002ent.3_Missense_Mutation_p.P100S|CNOT1_uc010vik.2_Missense_Mutation_p.P1119S	p.P2162S	NM_016284	NP_057368	WXS	Illumina GAIIx	Phase_I	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	44	6777	-			2162					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	c.6484C>T	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	G	32	5.118834	0.94385	.	.	ENSG00000125107	ENST00000317147;ENST00000422872;ENST00000546037;ENST00000245138	T	0.63096	-0.02	5.68	5.68	0.88126	CCR4-Not complex component, Not1, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.86012	0.5831	H	0.95574	3.69	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.89592	0.3828	10	0.72032	D	0.01	.	18.7868	0.91959	0.0:0.0:1.0:0.0	.	1013;2162;2157	B5MDN3;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	S	2162;856;167;1013	ENSP00000320949:P2162S	ENSP00000245138:P1013S	P	-	1	0	CNOT1	57117513	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.626000	0.98410	2.682000	0.91365	0.557000	0.71058	CCC		0.378	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		32	94	0	0	0	1	0	32	94				
TTC39C	125488	broad.mit.edu	37	18	21646063	21646063	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr18:21646063G>A	ENST00000317571.3	+	3	540	c.304G>A	c.(304-306)Gct>Act	p.A102T	TTC39C_ENST00000578150.1_3'UTR|TTC39C_ENST00000304621.6_Missense_Mutation_p.A41T	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	102										breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						AAGTGAAGAGGCTGGAGTAAT	0.358																																						uc002kuw.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						c.(304-306)Gct>Act		Homo sapiens tetratricopeptide repeat domain 39C (TTC39C), transcript variant 1, mRNA.							116.0	128.0	124.0					18																	21646063		2203	4300	6503	SO:0001583	missense	125488						binding	g.chr18:21646063G>A	AK091080	CCDS32804.1, CCDS45839.1, CCDS58616.1	18q11.2	2014-02-07	2008-06-23	2008-06-23	ENSG00000168234	ENSG00000168234		"""Tetratricopeptide (TTC) repeat domain containing"""	26595	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 17"""	C18orf17		14702039	Standard	NM_153211		Approved	FLJ33761, HsT2697	uc002kuw.3	Q8N584	OTTHUMG00000179403	ENST00000317571.3:c.304G>A	18.37:g.21646063G>A	ENSP00000323645:p.Ala102Thr		Somatic				TTC39C_uc002kuu.3_Missense_Mutation_p.A41T	p.A102T	NM_001135993	NP_694943	WXS	Illumina GAIIx	Phase_I	Q8N584	TT39C_HUMAN			2	756	+			102					B7WP63|J3QRR1|Q0VAJ2|Q8N284	Missense_Mutation	SNP	ENST00000317571.3	37	c.304G>A	CCDS45839.1	.	.	.	.	.	.	.	.	.	.	G	9.502	1.103513	0.20632	.	.	ENSG00000168234	ENST00000304621;ENST00000317571	T;T	0.46819	0.86;0.86	5.41	5.41	0.78517	.	0.050625	0.85682	D	0.000000	T	0.40694	0.1127	L	0.36672	1.1	0.80722	D	1	B	0.26902	0.163	B	0.27380	0.079	T	0.21211	-1.0252	10	0.14252	T	0.57	-1.7976	19.1675	0.93562	0.0:0.0:1.0:0.0	.	102	Q8N584	TT39C_HUMAN	T	41;102	ENSP00000306598:A41T;ENSP00000323645:A102T	ENSP00000306598:A41T	A	+	1	0	TTC39C	19900061	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	5.237000	0.65360	2.545000	0.85829	0.561000	0.74099	GCT		0.358	TTC39C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446107.1	NM_153211		12	41	0	0	0	1	0	12	41				
TNIK	23043	broad.mit.edu	37	3	170802927	170802927	+	Missense_Mutation	SNP	T	T	A			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr3:170802927T>A	ENST00000436636.2	-	25	3322	c.2978A>T	c.(2977-2979)gAt>gTt	p.D993V	TNIK_ENST00000341852.6_Missense_Mutation_p.D909V|TNIK_ENST00000470834.1_Missense_Mutation_p.D956V|TNIK_ENST00000357327.5_Missense_Mutation_p.D964V|TNIK_ENST00000369326.5_Missense_Mutation_p.D971V|TNIK_ENST00000538048.1_Missense_Mutation_p.D945V|TNIK_ENST00000460047.1_Missense_Mutation_p.D930V|TNIK_ENST00000488470.1_Missense_Mutation_p.D938V|TNIK_ENST00000475336.1_Missense_Mutation_p.D901V|TNIK_ENST00000284483.8_Missense_Mutation_p.D985V	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	993	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TGATTCCTCATCCTCTTCATC	0.478																																						uc003fhh.2																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62						c.(2977-2979)gAt>gTt		Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA.							62.0	63.0	62.0					3																	170802927		1905	4121	6026	SO:0001583	missense	23043				Wnt receptor signaling pathway|actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170802927T>A	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.2978A>T	3.37:g.170802927T>A	ENSP00000399511:p.Asp993Val		Somatic				TNIK_uc003fhi.2_Missense_Mutation_p.D938V|TNIK_uc003fhj.2_Missense_Mutation_p.D964V|TNIK_uc003fhk.2_Missense_Mutation_p.D985V|TNIK_uc003fhl.2_Missense_Mutation_p.D909V|TNIK_uc003fhm.2_Missense_Mutation_p.D930V|TNIK_uc003fhn.2_Missense_Mutation_p.D956V|TNIK_uc003fho.2_Missense_Mutation_p.D901V|TNIK_uc003fhg.2_Missense_Mutation_p.D171V|TNIK_uc003fhp.3_5'Flank	p.D993V	NM_015028	NP_055843	WXS	Illumina GAIIx	Phase_I	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		24	3323	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		993			Mediates interaction with NEDD4.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	37	c.2978A>T	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	T	14.98	2.698264	0.48307	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.73575	-0.74;-0.73;-0.75;-0.76;-0.74;-0.76;-0.75;-0.76;-0.76;-0.75	5.37	5.37	0.77165	.	0.323692	0.32640	N	0.005822	T	0.71484	0.3345	N	0.08118	0	0.80722	D	1	P;P;P;P;P;D;P;D	0.65815	0.95;0.758;0.95;0.95;0.503;0.978;0.95;0.995	P;B;P;P;B;P;P;P	0.62184	0.698;0.425;0.698;0.698;0.198;0.836;0.698;0.899	T	0.76277	-0.3018	10	0.45353	T	0.12	.	15.5421	0.76062	0.0:0.0:0.0:1.0	.	901;956;930;909;985;964;938;993	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	V	993;971;945;909;985;901;964;930;938;956	ENSP00000399511:D993V;ENSP00000358332:D971V;ENSP00000443278:D945V;ENSP00000345352:D909V;ENSP00000284483:D985V;ENSP00000418156:D901V;ENSP00000349880:D964V;ENSP00000418916:D930V;ENSP00000418378:D938V;ENSP00000419990:D956V	ENSP00000284483:D985V	D	-	2	0	TNIK	172285621	1.000000	0.71417	0.997000	0.53966	0.302000	0.27658	7.421000	0.80204	2.254000	0.74563	0.460000	0.39030	GAT		0.478	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		5	18	0	0	0	1	0	5	18				
CNOT2	4848	broad.mit.edu	37	12	70732321	70732321	+	Silent	SNP	A	A	G			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr12:70732321A>G	ENST00000418359.3	+	11	1450	c.999A>G	c.(997-999)aaA>aaG	p.K333K	CNOT2_ENST00000229195.3_Silent_p.K333K|CNOT2_ENST00000551483.1_5'UTR	NM_001199302.1	NP_001186231.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	333					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription corepressor binding (GO:0001226)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			AGCAGAAAAAAGGGATCCAGG	0.323																																						uc001svv.3																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20						c.(997-999)aaA>aaG		Homo sapiens CCR4-NOT transcription complex, subunit 2 (CNOT2), transcript variant 2, mRNA.							87.0	90.0	89.0					12																	70732321		2203	4300	6503	SO:0001819	synonymous_variant	4848				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	RNA polymerase II transcription cofactor activity|protein binding	g.chr12:70732321A>G	AF180473	CCDS31857.1	12q15	2008-05-14				ENSG00000111596			7878	protein-coding gene	gene with protein product		604909		NOT2		10637334	Standard	NM_014515		Approved	CDC36, NOT2H	uc001svv.3	Q9NZN8		ENST00000418359.3:c.999A>G	12.37:g.70732321A>G			Somatic				CNOT2_uc009zro.3_Silent_p.K333K|CNOT2_uc009zrp.3_Silent_p.K313K|CNOT2_uc009zrq.3_Silent_p.K333K|CNOT2_uc001svw.1_Silent_p.K73K	p.K333K	NM_014515	NP_055330	WXS	Illumina GAIIx	Phase_I	Q9NZN8	CNOT2_HUMAN	GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		9	1581	+	Renal(347;0.236)		333					Q9H3E0|Q9NSX5|Q9NWR6|Q9P028	Silent	SNP	ENST00000418359.3	37	c.999A>G	CCDS31857.1	.	.	.	.	.	.	.	.	.	.	A	5.067	0.198090	0.09652	.	.	ENSG00000111596	ENST00000552599	.	.	.	5.71	-0.549	0.11829	.	.	.	.	.	T	0.55955	0.1953	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50268	-0.8848	4	.	.	.	-7.611	9.9087	0.41392	0.6553:0.0:0.3447:0.0	.	.	.	.	G	44	.	.	R	+	1	2	CNOT2	69018588	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	2.180000	0.42537	-0.100000	0.12241	-0.376000	0.06991	AGG		0.323	CNOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404260.1			3	107	0	0	0	1	0	3	107				
INO80E	283899	broad.mit.edu	37	16	30012109	30012109	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr16:30012109G>A	ENST00000563197.1	+	4	1253	c.236G>A	c.(235-237)aGc>aAc	p.S79N	INO80E_ENST00000304516.7_Missense_Mutation_p.S79N|INO80E_ENST00000567705.1_Missense_Mutation_p.S79N|INO80E_ENST00000567254.1_Missense_Mutation_p.S79N	NM_173618.1	NP_775889.1	Q8NBZ0	IN80E_HUMAN	INO80 complex subunit E	79					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	6						TCAGATAACAGCGAGACGGAG	0.587																																						uc002dvg.1																			0				endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	6						c.(235-237)aGc>aAc		Homo sapiens INO80 complex subunit E (INO80E), mRNA.							74.0	61.0	65.0					16																	30012109		2197	4300	6497	SO:0001583	missense	283899				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex		g.chr16:30012109G>A	AK075133	CCDS10665.1	16p11.2	2011-07-06	2008-08-07	2008-08-07	ENSG00000169592	ENSG00000169592		"""INO80 complex subunits"""	26905	protein-coding gene	gene with protein product			"""coiled-coil domain containing 95"""	CCDC95		16230350	Standard	NM_173618		Approved	FLJ90652	uc002dvg.1	Q8NBZ0	OTTHUMG00000132114	ENST00000563197.1:c.236G>A	16.37:g.30012109G>A	ENSP00000457016:p.Ser79Asn		Somatic				BOLA2_uc010bzb.1_Intron|INO80E_uc002dvh.1_Non-coding_Transcript	p.S79N	NM_173618	NP_775889	WXS	Illumina GAIIx	Phase_I	Q8NBZ0	IN80E_HUMAN			3	337	+			79					Q6Y2K3	Missense_Mutation	SNP	ENST00000563197.1	37	c.236G>A	CCDS10665.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.901111	0.92035	.	.	ENSG00000169592	ENST00000304516;ENST00000380503;ENST00000540562	.	.	.	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.76271	0.3964	M	0.61703	1.905	0.54753	D	0.999982	P;D;D	0.57899	0.945;0.981;0.981	D;D;D	0.63597	0.916;0.916;0.916	T	0.76364	-0.2986	9	0.59425	D	0.04	-12.833	17.7145	0.88332	0.0:0.0:1.0:0.0	.	103;79;79	Q8TEI7;Q6Y2K3;Q8NBZ0	.;.;IN80E_HUMAN	N	79;103;79	.	ENSP00000303977:S79N	S	+	2	0	INO80E	29919610	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	6.287000	0.72671	2.790000	0.95986	0.591000	0.81541	AGC		0.587	INO80E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255156.2	NM_173618		3	58	0	0	0	1	0	3	58				
PCDHB6	56130	broad.mit.edu	37	5	140530372	140530372	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr5:140530372C>A	ENST00000231136.1	+	1	534	c.534C>A	c.(532-534)caC>caA	p.H178Q	PCDHB6_ENST00000543635.1_Missense_Mutation_p.H42Q	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	178	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCACTTCCACGTTCTCACCC	0.547																																						uc003lir.3																			0				cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84						c.(532-534)caC>caA		Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.							142.0	150.0	147.0					5																	140530372		2203	4300	6503	SO:0001583	missense	56130				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140530372C>A	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.534C>A	5.37:g.140530372C>A	ENSP00000231136:p.His178Gln		Somatic					p.H178Q	NM_018939	NP_061762	WXS	Illumina GAIIx	Phase_I	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	534	+			178			Cadherin 2.		B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.534C>A	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	C	11.11	1.541479	0.27563	.	.	ENSG00000113211	ENST00000543635;ENST00000231136	T;T	0.50277	0.75;0.75	4.7	-0.908	0.10517	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.52885	0.1762	L	0.39692	1.235	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.42120	-0.9470	9	0.66056	D	0.02	.	5.7518	0.18150	0.1253:0.4472:0.0:0.4275	.	178	Q9Y5E3	PCDB6_HUMAN	Q	42;178	ENSP00000438466:H42Q;ENSP00000231136:H178Q	ENSP00000231136:H178Q	H	+	3	2	PCDHB6	140510556	0.000000	0.05858	0.987000	0.45799	0.946000	0.59487	-1.909000	0.01586	-0.058000	0.13177	-0.254000	0.11334	CAC		0.547	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		12	357	0	0	0	1	0	12	357				
MID2	11043	broad.mit.edu	37	X	107148766	107148766	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chrX:107148766G>A	ENST00000262843.6	+	5	1531	c.983G>A	c.(982-984)cGg>cAg	p.R328Q	MID2_ENST00000443968.2_Missense_Mutation_p.R328Q|RP6-191P20.4_ENST00000430140.1_RNA	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	328					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein localization to microtubule (GO:0035372)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						TGTCTTGAACGGTCAACAGTC	0.403																																						uc004enl.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						c.(982-984)cGg>cAg		Homo sapiens midline 2 (MID2), transcript variant 1, mRNA.							163.0	145.0	151.0					X																	107148766		2203	4300	6503	SO:0001583	missense	11043					centrosome|microtubule	ligase activity|zinc ion binding	g.chrX:107148766G>A		CCDS14532.2, CCDS14533.2	Xq22.1-q22.2	2013-02-11			ENSG00000080561	ENSG00000080561		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7096	protein-coding gene	gene with protein product		300204				10400986	Standard	NM_012216		Approved	FXY2, TRIM1, RNF60	uc004enl.3	Q9UJV3	OTTHUMG00000022171	ENST00000262843.6:c.983G>A	X.37:g.107148766G>A	ENSP00000262843:p.Arg328Gln		Somatic				MID2_uc004enk.3_Missense_Mutation_p.R328Q	p.R328Q	NM_012216	NP_036348	WXS	Illumina GAIIx	Phase_I	Q9UJV3	TRIM1_HUMAN			4	1556	+			328					A6NEL8|A6PVI5|Q5JYF5|Q8WWK1|Q9UJR9	Missense_Mutation	SNP	ENST00000262843.6	37	c.983G>A	CCDS14532.2	.	.	.	.	.	.	.	.	.	.	G	27.8	4.865898	0.91511	.	.	ENSG00000080561	ENST00000262843;ENST00000443968	T;T	0.58652	0.32;0.34	5.58	5.58	0.84498	B-box, C-terminal (1);	0.103566	0.64402	D	0.000002	T	0.59418	0.2192	L	0.53249	1.67	0.54753	D	0.999988	D;P	0.61697	0.99;0.501	P;B	0.48114	0.567;0.179	T	0.57171	-0.7857	10	0.26408	T	0.33	.	15.8544	0.78965	0.0:0.0:1.0:0.0	.	328;328	Q9UJV3;Q9UJV3-2	TRIM1_HUMAN;.	Q	328	ENSP00000262843:R328Q;ENSP00000413976:R328Q	ENSP00000262843:R328Q	R	+	2	0	MID2	107035422	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.317000	0.79018	2.343000	0.79666	0.600000	0.82982	CGG		0.403	MID2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057852.2	NM_012216		9	115	0	0	0	1	0	9	115				
BGN	633	broad.mit.edu	37	X	152772037	152772037	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chrX:152772037G>A	ENST00000331595.4	+	5	802	c.616G>A	c.(616-618)Gat>Aat	p.D206N	BGN_ENST00000480756.1_3'UTR	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN	biglycan	206					blood vessel remodeling (GO:0001974)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|transport vesicle (GO:0030133)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|glycosaminoglycan binding (GO:0005539)			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGAGCCTTCGATGGCCTGAA	0.612																																						uc004fhr.2																			0				breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16						c.(616-618)Gat>Aat		Homo sapiens biglycan (BGN), mRNA.							121.0	103.0	109.0					X																	152772037		2203	4300	6503	SO:0001583	missense	633					proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent	g.chrX:152772037G>A	AK092954	CCDS14721.1	Xq28	2008-02-05			ENSG00000182492	ENSG00000182492		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	1044	protein-coding gene	gene with protein product	"""biglycan proteoglycan"""	301870				1612609	Standard	NM_001711		Approved	DSPG1, SLRR1A	uc004fhr.2	P21810	OTTHUMG00000024205	ENST00000331595.4:c.616G>A	X.37:g.152772037G>A	ENSP00000327336:p.Asp206Asn		Somatic					p.D206N	NM_001711	NP_001702	WXS	Illumina GAIIx	Phase_I	P21810	PGS1_HUMAN			4	852	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		206					D3DWU3|P13247	Missense_Mutation	SNP	ENST00000331595.4	37	c.616G>A	CCDS14721.1	.	.	.	.	.	.	.	.	.	.	G	11.28	1.591485	0.28357	.	.	ENSG00000182492	ENST00000331595;ENST00000431891;ENST00000370204;ENST00000430380	T;D;T	0.82167	0.39;-1.58;0.39	4.71	3.85	0.44370	.	0.113514	0.64402	D	0.000015	T	0.70107	0.3186	N	0.25060	0.705	0.41541	D	0.988511	B	0.09022	0.002	B	0.08055	0.003	T	0.61362	-0.7078	10	0.20046	T	0.44	-18.0593	11.3012	0.49306	0.0942:0.0:0.9058:0.0	.	206	P21810	PGS1_HUMAN	N	206;223;145;145	ENSP00000327336:D206N;ENSP00000402525:D223N;ENSP00000359223:D145N	ENSP00000327336:D206N	D	+	1	0	BGN	152425231	0.997000	0.39634	0.117000	0.21633	0.487000	0.33371	2.878000	0.48515	0.911000	0.36747	0.529000	0.55759	GAT		0.612	BGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060981.1	NM_001711		12	63	0	0	0	1	0	12	63				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	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		38	65	0	0	0	1	0	38	65				
DSCAM	1826	broad.mit.edu	37	21	41539194	41539194	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr21:41539194T>C	ENST00000400454.1	-	16	3446	c.2969A>G	c.(2968-2970)gAa>gGa	p.E990G		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	990	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CAGGTGAACTTCCTGAGGTGG	0.532																																					Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(2968-2970)gAa>gGa		Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.							99.0	99.0	99.0					21																	41539194		1927	4128	6055	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41539194T>C	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.2969A>G	21.37:g.41539194T>C	ENSP00000383303:p.Glu990Gly		Somatic				DSCAM_uc002yyr.1_Non-coding_Transcript	p.E990G	NM_001389	NP_001380	WXS	Illumina GAIIx	Phase_I	O60469	DSCAM_HUMAN			15	3421	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	990			Fibronectin type-III 2.		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.2969A>G	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	T	15.26	2.781719	0.49891	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.55760	0.5;0.5	5.22	5.22	0.72569	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.106075	0.64402	D	0.000004	T	0.34716	0.0907	N	0.11789	0.175	0.38613	D	0.95094	B	0.21381	0.055	B	0.24701	0.055	T	0.26950	-1.0088	10	0.30854	T	0.27	.	11.8118	0.52188	0.0:0.0:0.0:1.0	.	990	O60469	DSCAM_HUMAN	G	990;742	ENSP00000383303:E990G;ENSP00000385342:E742G	ENSP00000383303:E990G	E	-	2	0	DSCAM	40461064	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.310000	0.65780	2.099000	0.63709	0.533000	0.62120	GAA		0.532	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		3	100	0	0	0	1	0	3	100				
CSRNP3	80034	broad.mit.edu	37	2	166536026	166536026	+	Silent	SNP	C	C	T			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr2:166536026C>T	ENST00000342316.4	+	5	1793	c.1521C>T	c.(1519-1521)tcC>tcT	p.S507S	CSRNP3_ENST00000314499.7_Silent_p.S507S|CSRNP3_ENST00000409420.1_Silent_p.S539S	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	507					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						GCTCCTCTTCCGAAAATGATA	0.512																																						uc002udf.3																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						c.(1519-1521)tcC>tcT		Homo sapiens cysteine-serine-rich nuclear protein 3 (CSRNP3), transcript variant 1, mRNA.							89.0	75.0	80.0					2																	166536026		2203	4300	6503	SO:0001819	synonymous_variant	80034				apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:166536026C>T	AB063300	CCDS2225.1	2q24.3	2012-04-17	2009-01-07	2009-01-07	ENSG00000178662	ENSG00000178662		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30729	protein-coding gene	gene with protein product	"""TGF beta induced apotosis protein 2"", ""protein phosphatase 1, regulatory subunit 73"""		"""family with sequence similarity 130, member A2"""	FAM130A2		17726538	Standard	NM_024969		Approved	FLJ32093, TAIP-2, PPP1R73	uc002udg.3	Q8WYN3	OTTHUMG00000132145	ENST00000342316.4:c.1521C>T	2.37:g.166536026C>T			Somatic				CSRNP3_uc002udg.3_Silent_p.S507S	p.S507S	NM_001172173	NP_079245	WXS	Illumina GAIIx	Phase_I	Q8WYN3	CSRN3_HUMAN			6	1897	+			507					B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	Silent	SNP	ENST00000342316.4	37	c.1521C>T	CCDS2225.1																																																																																				0.512	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255191.2	NM_024969		16	37	0	0	0	1	0	16	37				
MYOM2	9172	broad.mit.edu	37	8	2040223	2040223	+	Silent	SNP	G	G	A	rs574414781		TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	76aa02be-13b4-40c3-bb19-d0cf1c4cc210	g.chr8:2040223G>A	ENST00000262113.4	+	16	2019	c.1878G>A	c.(1876-1878)acG>acA	p.T626T	MYOM2_ENST00000523438.1_Silent_p.T51T	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	626	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		ACACCAAGACGTCGGTGGTGG	0.572													G|||	1	0.000199681	0.0	0.0	5008	,	,		18763	0.0		0.0	False		,,,				2504	0.001					uc003wpx.4																			0				autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104						c.(1876-1878)acG>acA		Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.							196.0	181.0	186.0					8																	2040223		2203	4300	6503	SO:0001819	synonymous_variant	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2040223G>A		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.1878G>A	8.37:g.2040223G>A			Somatic				MYOM2_uc011kwi.2_Silent_p.T51T	p.T626T	NM_003970	NP_003961	WXS	Illumina GAIIx	Phase_I	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	15	2016	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	626			Fibronectin type-III 3.		Q7Z3Y2	Silent	SNP	ENST00000262113.4	37	c.1878G>A	CCDS5957.1																																																																																				0.572	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		6	218	0	0	0	1	0	6	218				
FGF5	2250	broad.mit.edu	37	4	81188003	81188003	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	76aa02be-13b4-40c3-bb19-d0cf1c4cc210	g.chr4:81188003C>T	ENST00000312465.7	+	1	251	c.25C>T	c.(25-27)Ctc>Ttc	p.L9F	FGF5_ENST00000456523.3_Missense_Mutation_p.L9F	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	9					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell differentiation (GO:0010001)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction involved in regulation of gene expression (GO:0023019)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	fibroblast growth factor receptor binding (GO:0005104)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						CCTCCTCCTCCTCTTCTTCAG	0.627																																						uc003hmd.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(25-27)Ctc>Ttc		Homo sapiens fibroblast growth factor 5 (FGF5), transcript variant 1, mRNA.							41.0	45.0	43.0					4																	81188003		2202	4299	6501	SO:0001583	missense	2250				cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity	g.chr4:81188003C>T	M23534	CCDS3586.1, CCDS34021.1	4q21	2014-01-30			ENSG00000138675	ENSG00000138675		"""Endogenous ligands"""	3683	protein-coding gene	gene with protein product		165190				3211147, 2577873	Standard	NM_001291812		Approved		uc003hmd.3	P12034	OTTHUMG00000130288	ENST00000312465.7:c.25C>T	4.37:g.81188003C>T	ENSP00000311697:p.Leu9Phe		Somatic				FGF5_uc003hme.3_Missense_Mutation_p.L9F	p.L9F	NM_004464	NP_004455	WXS	Illumina GAIIx	Phase_I	P12034	FGF5_HUMAN			0	262	+			9					B2R554|O75846|Q3Y8M3|Q8NF90	Missense_Mutation	SNP	ENST00000312465.7	37	c.25C>T	CCDS34021.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.240743	0.58995	.	.	ENSG00000138675	ENST00000312465;ENST00000456523	T;T	0.11712	2.75;2.75	5.36	4.5	0.54988	.	0.504072	0.19266	N	0.118534	T	0.15825	0.0381	N	0.24115	0.695	0.25746	N	0.985108	D;P	0.63046	0.992;0.883	P;P	0.62298	0.9;0.459	T	0.04693	-1.0933	10	0.59425	D	0.04	.	8.6866	0.34240	0.1571:0.7677:0.0:0.0751	.	9;9	P12034-2;P12034	.;FGF5_HUMAN	F	9	ENSP00000311697:L9F;ENSP00000398353:L9F	ENSP00000311697:L9F	L	+	1	0	FGF5	81407027	0.990000	0.36364	0.997000	0.53966	0.872000	0.50106	0.465000	0.22004	1.436000	0.47453	0.561000	0.74099	CTC		0.627	FGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252627.2			3	91	0	0	0	1	0	3	91				
TMEM132D	121256	broad.mit.edu	37	12	130184856	130184856	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	76aa02be-13b4-40c3-bb19-d0cf1c4cc210	g.chr12:130184856C>A	ENST00000422113.2	-	2	793	c.467G>T	c.(466-468)tGg>tTg	p.W156L	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	156					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GCGGTCGTCCCAGTCTCTGCC	0.607																																						uc009zyl.1																			0				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(466-468)tGg>tTg		Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.							28.0	28.0	28.0					12																	130184856		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:130184856C>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.467G>T	12.37:g.130184856C>A	ENSP00000408581:p.Trp156Leu		Somatic					p.W156L	NM_133448	NP_597705	WXS	Illumina GAIIx	Phase_I	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	1	795	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	156					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.467G>T	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.919216	0.73098	.	.	ENSG00000151952	ENST00000422113	T	0.13089	2.62	5.33	5.33	0.75918	.	0.000000	0.64402	D	0.000015	T	0.37999	0.1024	M	0.67625	2.065	0.58432	D	0.999992	D	0.89917	1.0	D	0.91635	0.999	T	0.03818	-1.1001	9	.	.	.	-22.3852	19.0288	0.92946	0.0:1.0:0.0:0.0	.	156	Q14C87	T132D_HUMAN	L	156	ENSP00000408581:W156L	.	W	-	2	0	TMEM132D	128750809	1.000000	0.71417	0.996000	0.52242	0.303000	0.27691	7.619000	0.83057	2.472000	0.83506	0.555000	0.69702	TGG		0.607	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		13	35	0	0	0	1	0	13	35				
DMGDH	29958	broad.mit.edu	37	5	78322341	78322341	+	Missense_Mutation	SNP	A	A	C			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	76aa02be-13b4-40c3-bb19-d0cf1c4cc210	g.chr5:78322341A>C	ENST00000255189.3	-	13	2124	c.2096T>G	c.(2095-2097)aTg>aGg	p.M699R	DMGDH_ENST00000380311.4_Missense_Mutation_p.M498R|DMGDH_ENST00000540686.1_Missense_Mutation_p.M319R	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	699					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		GCCTGCATTCATGATAGCGTC	0.512																																						uc003kfs.3																			0		p.M699I(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(2095-2097)aTg>aGg		Homo sapiens dimethylglycine dehydrogenase (DMGDH), nuclear gene encoding mitochondrial protein, mRNA.							106.0	96.0	99.0					5																	78322341		2203	4300	6503	SO:0001583	missense	29958				choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity	g.chr5:78322341A>C	AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.2096T>G	5.37:g.78322341A>C	ENSP00000255189:p.Met699Arg		Somatic				DMGDH_uc011cte.1_Missense_Mutation_p.M549R|DMGDH_uc011ctf.1_Missense_Mutation_p.M498R|DMGDH_uc011ctg.1_Missense_Mutation_p.M319R	p.M699R	NM_013391	NP_037523	WXS	Illumina GAIIx	Phase_I	Q9UI17	M2GD_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)	12	2102	-		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)	699					B2RBN0|B4E1J9	Missense_Mutation	SNP	ENST00000255189.3	37	c.2096T>G	CCDS4044.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.047714	0.75846	.	.	ENSG00000132837	ENST00000255189;ENST00000523732;ENST00000380311;ENST00000540686;ENST00000539598	T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99	5.52	5.52	0.82312	Glycine cleavage T-protein, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.82811	0.5118	M	0.67953	2.075	0.80722	D	1	D;D;B;B	0.63880	0.993;0.973;0.168;0.202	P;P;B;B	0.61800	0.878;0.894;0.085;0.139	T	0.82214	-0.0568	10	0.36615	T	0.2	.	15.6338	0.76933	1.0:0.0:0.0:0.0	.	319;498;549;699	B4E1J9;F8W6P8;F5H1C7;Q9UI17	.;.;.;M2GD_HUMAN	R	699;538;498;319;549	ENSP00000255189:M699R;ENSP00000430972:M538R;ENSP00000369667:M498R;ENSP00000439478:M319R	ENSP00000255189:M699R	M	-	2	0	DMGDH	78358097	1.000000	0.71417	0.998000	0.56505	0.607000	0.37147	9.154000	0.94694	2.107000	0.64212	0.459000	0.35465	ATG		0.512	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	NM_013391		4	96	0	0	0	1	0	4	96				
CGB2	114336	broad.mit.edu	37	19	49536439	49536439	+	Silent	SNP	A	A	T			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	76aa02be-13b4-40c3-bb19-d0cf1c4cc210	g.chr19:49536439A>T	ENST00000359342.6	+	3	571	c.453A>T	c.(451-453)cgA>cgT	p.R151R	CTB-60B18.6_ENST00000591656.1_Intron	NM_033378.1	NP_203696.2	Q6NT52	CGB2_HUMAN	chorionic gonadotropin, beta polypeptide 2	183						extracellular region (GO:0005576)				large_intestine(1)|lung(1)|stomach(1)	3		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		GCCCATCCCGACTCCCGGGGC	0.637																																						uc002plw.3																			0				large_intestine(1)|lung(1)|stomach(1)	3						c.(451-453)cgA>cgT		Homo sapiens chorionic gonadotropin, beta polypeptide 2 (CGB2), mRNA.							42.0	59.0	53.0					19																	49536439		2198	4298	6496	SO:0001819	synonymous_variant	114336							g.chr19:49536439A>T	K03184	CCDS12750.2	19q13.32	2008-02-05			ENSG00000104818	ENSG00000104818			16722	protein-coding gene	gene with protein product		608824				6194155	Standard	NM_033378		Approved		uc002plw.3	Q6NT52	OTTHUMG00000150185	ENST00000359342.6:c.453A>T	19.37:g.49536439A>T			Somatic				SNAR-G2_uc010yae.1_5'Flank|CGB2_uc010yaf.2_Silent_p.R139R	p.R151R	NM_033378	NP_203696	WXS	Illumina GAIIx	Phase_I				all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	2	676	+		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)						B9ZVM5	Silent	SNP	ENST00000359342.6	37	c.453A>T	CCDS12750.2																																																																																				0.637	CGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316745.1	NM_033378		5	105	0	0	0	1	0	5	105				
RXRA	6256	broad.mit.edu	37	9	137323832	137323832	+	Silent	SNP	C	C	T			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	76aa02be-13b4-40c3-bb19-d0cf1c4cc210	g.chr9:137323832C>T	ENST00000481739.1	+	8	1177	c.1125C>T	c.(1123-1125)ctC>ctT	p.L375L	RXRA_ENST00000356384.4_3'UTR|RXRA_ENST00000540193.1_Silent_p.L278L	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha	375	Ligand-binding.				camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|cellular lipid metabolic process (GO:0044255)|cholesterol metabolic process (GO:0008203)|embryo implantation (GO:0007566)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|response to retinoic acid (GO:0032526)|retinoic acid receptor signaling pathway (GO:0048384)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|vitamin metabolic process (GO:0006766)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein heterodimerization activity (GO:0046982)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|vitamin D receptor binding (GO:0042809)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etodolac(DB00749)	CCATCGTCCTCTTTAACCCTG	0.627																																						uc004cfb.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1123-1125)ctC>ctT		Homo sapiens retinoid X receptor, alpha (RXRA), mRNA.	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)						120.0	97.0	105.0					9																	137323832		2203	4300	6503	SO:0001819	synonymous_variant	6256				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding	g.chr9:137323832C>T	X52773	CCDS35172.1	9q34	2013-01-16			ENSG00000186350	ENSG00000186350		"""Nuclear hormone receptors"""	10477	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 1"""	180245				2159111	Standard	XM_005263409		Approved	NR2B1	uc004cfa.1	P19793	OTTHUMG00000020887	ENST00000481739.1:c.1125C>T	9.37:g.137323832C>T			Somatic				RXRA_uc004cfc.1_Silent_p.L278L	p.L375L	NM_002957	NP_002948	WXS	Illumina GAIIx	Phase_I	P19793	RXRA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	7	1287	+			375			Ligand-binding.		B3KY83|Q2NL52|Q2V504	Silent	SNP	ENST00000481739.1	37	c.1125C>T	CCDS35172.1																																																																																				0.627	RXRA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054949.1	NM_002957		22	24	0	0	0	1	0	22	24				
CHST8	64377	broad.mit.edu	37	19	34263440	34263440	+	Silent	SNP	C	C	T			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	76aa02be-13b4-40c3-bb19-d0cf1c4cc210	g.chr19:34263440C>T	ENST00000262622.4	+	4	1505	c.747C>T	c.(745-747)agC>agT	p.S249S	CHST8_ENST00000438847.3_Silent_p.S249S|CHST8_ENST00000434302.1_Silent_p.S249S	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	249					carbohydrate biosynthetic process (GO:0016051)|central nervous system development (GO:0007417)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					ACCGTCTCAGCACCTACACCA	0.602																																						uc002nus.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27						c.(745-747)agC>agT		Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 (CHST8), transcript variant 2, mRNA.							129.0	115.0	119.0					19																	34263440		2203	4300	6503	SO:0001819	synonymous_variant	64377				carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr19:34263440C>T	AB047801	CCDS12433.1	19q13.1	2008-02-05				ENSG00000124302		"""Sulfotransferases, membrane-bound"""	15993	protein-coding gene	gene with protein product		610190				10988300, 11001942	Standard	NM_001127895		Approved	GALNAC-4-ST1	uc002nut.4	Q9H2A9		ENST00000262622.4:c.747C>T	19.37:g.34263440C>T			Somatic				CHST8_uc002nut.4_Silent_p.S249S|CHST8_uc002nuu.3_Silent_p.S249S	p.S249S	NM_001127895	NP_071912	WXS	Illumina GAIIx	Phase_I	Q9H2A9	CHST8_HUMAN			4	1252	+	Esophageal squamous(110;0.162)		249					Q9H3N2	Silent	SNP	ENST00000262622.4	37	c.747C>T	CCDS12433.1																																																																																				0.602	CHST8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451453.1	NM_022467		8	108	0	0	0	1	0	8	108				
SCAP	22937	broad.mit.edu	37	3	47470042	47470042	+	Missense_Mutation	SNP	T	T	A			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	76aa02be-13b4-40c3-bb19-d0cf1c4cc210	g.chr3:47470042T>A	ENST00000265565.5	-	4	783	c.371A>T	c.(370-372)cAa>cTa	p.Q124L	SCAP_ENST00000441517.2_Intron|SCAP_ENST00000545718.1_Intron	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	124					aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CTCCACCAGTTGGAATGCCCG	0.527																																					Pancreas(149;978 1908 29304 37806 46700)	uc003crh.1																			0				endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26						c.(370-372)cAa>cTa		Homo sapiens SREBF chaperone (SCAP), mRNA.							160.0	149.0	153.0					3																	47470042		2203	4300	6503	SO:0001583	missense	22937				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	ER to Golgi transport vesicle membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	unfolded protein binding	g.chr3:47470042T>A	BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"""WD repeat domain containing"""	30634	protein-coding gene	gene with protein product	"""SREBP cleavage activating protein"""	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.371A>T	3.37:g.47470042T>A	ENSP00000265565:p.Gln124Leu		Somatic				SCAP_uc011baz.1_Intron|SCAP_uc003crg.2_Intron	p.Q124L	NM_012235	NP_036367	WXS	Illumina GAIIx	Phase_I	Q12770	SCAP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)	3	626	-			124					Q8N2E0|Q8WUA1	Missense_Mutation	SNP	ENST00000265565.5	37	c.371A>T	CCDS2755.2	.	.	.	.	.	.	.	.	.	.	T	14.66	2.602794	0.46423	.	.	ENSG00000114650	ENST00000339815;ENST00000265565;ENST00000416847;ENST00000495603	T	0.80033	-1.33	5.81	5.81	0.92471	.	0.135790	0.53938	D	0.000058	T	0.70116	0.3187	N	0.25647	0.755	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.66400	-0.5933	10	0.51188	T	0.08	-19.5949	11.7752	0.51981	0.0:0.0:0.1468:0.8532	.	124	Q12770	SCAP_HUMAN	L	124	ENSP00000265565:Q124L	ENSP00000265565:Q124L	Q	-	2	0	SCAP	47445046	1.000000	0.71417	1.000000	0.80357	0.599000	0.36880	1.835000	0.39181	2.210000	0.71456	0.533000	0.62120	CAA		0.527	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235		7	201	0	0	0	1	0	7	201				
KAT8	84148	broad.mit.edu	37	16	31141896	31141896	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	76aa02be-13b4-40c3-bb19-d0cf1c4cc210	g.chr16:31141896T>C	ENST00000543774.2	+	10	1461	c.1126T>C	c.(1126-1128)Ttc>Ctc	p.F376L	KAT8_ENST00000219797.4_Missense_Mutation_p.F376L|KAT8_ENST00000448516.2_Missense_Mutation_p.F376L|RP11-388M20.2_ENST00000563605.1_RNA			Q9H7Z6	KAT8_HUMAN	K(lysine) acetyltransferase 8	376	MYST-type HAT.|Sufficient for interaction with KANSL1.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|myeloid cell differentiation (GO:0030099)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	histone acetyltransferase complex (GO:0000123)|kinetochore (GO:0000776)|MLL1 complex (GO:0071339)|MSL complex (GO:0072487)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|transcription factor binding (GO:0008134)										CCTGCGGGACTTCCGGGGCAC	0.647																																						uc002eax.3																			0											c.(1126-1128)Ttc>Ctc		Homo sapiens K(lysine) acetyltransferase 8 (KAT8), transcript variant 2, mRNA.							46.0	47.0	47.0					16																	31141896		2197	4300	6497	SO:0001583	missense	84148				histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex|MSL complex	histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding	g.chr16:31141896T>C	AF217501	CCDS10706.1, CCDS45468.1	16p11.1	2013-01-10	2011-07-21	2011-07-21	ENSG00000103510	ENSG00000103510	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	17933	protein-coding gene	gene with protein product		609912	"""MYST histone acetyltransferase 1"""	MYST1		10786633	Standard	NM_032188		Approved	MOF, FLJ14040, hMOF, ZC2HC8	uc002eax.3	Q9H7Z6	OTTHUMG00000132410	ENST00000543774.2:c.1126T>C	16.37:g.31141896T>C	ENSP00000456933:p.Phe376Leu		Somatic				KAT8_uc002eay.3_Missense_Mutation_p.F376L|KAT8_uc002eaz.3_Missense_Mutation_p.F218L|KAT8_uc002eba.3_Missense_Mutation_p.F160L	p.F376L	NM_182958	NP_892003	WXS	Illumina GAIIx	Phase_I	Q9H7Z6	MYST1_HUMAN			8	1144	+			376					A8K4Z1|G5E9P2|Q659G0|Q7LC17|Q8IY59|Q8WYB4|Q8WZ14|Q9HAC5|Q9NR35	Missense_Mutation	SNP	ENST00000543774.2	37	c.1126T>C	CCDS10706.1	.	.	.	.	.	.	.	.	.	.	t	15.52	2.857210	0.51376	.	.	ENSG00000103510	ENST00000219797;ENST00000448516	.	.	.	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.43678	0.1258	L	0.33189	0.99	0.80722	D	1	B;B;B	0.11235	0.001;0.002;0.004	B;B;B	0.06405	0.002;0.002;0.002	T	0.31833	-0.9929	9	0.10377	T	0.69	-20.6273	13.6347	0.62215	0.0:0.0:0.0:1.0	.	376;376;376	Q9H7Z6-2;Q9H7Z6;G5E9P2	.;KAT8_HUMAN;.	L	376	.	ENSP00000219797:F376L	F	+	1	0	KAT8	31049397	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.514000	0.81750	2.075000	0.62263	0.454000	0.30748	TTC		0.647	KAT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000255546.3	NM_032188		17	39	0	0	0	1	0	17	39				
SPTAN1	6709	broad.mit.edu	37	9	131355261	131355261	+	Splice_Site	SNP	G	G	A			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	76aa02be-13b4-40c3-bb19-d0cf1c4cc210	g.chr9:131355261G>A	ENST00000372731.4	+	23	3265		c.e23-1		SPTAN1_ENST00000372739.3_Splice_Site|SPTAN1_ENST00000358161.5_Splice_Site	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1						actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CCTCTGTGCAGGACACGCATA	0.532																																					NSCLC(120;833 1744 2558 35612 37579)	uc004bvm.4																			0				NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						c.e23-1		Homo sapiens spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) (SPTAN1), transcript variant 1, mRNA.							76.0	60.0	66.0					9																	131355261		2203	4300	6503	SO:0001630	splice_region_variant	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131355261G>A	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.3156-1G>A	9.37:g.131355261G>A			Somatic				SPTAN1_uc011mbg.2_Intron|SPTAN1_uc011mbh.2_Splice_Site_p.Q1064_splice|SPTAN1_uc004bvl.4_Splice_Site_p.Q1052_splice|SPTAN1_uc004bvn.4_Intron	p.Q1052_splice	NM_001130438	NP_001123910	WXS	Illumina GAIIx	Phase_I	Q13813	SPTA2_HUMAN			23	3298	+			1052					Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Splice_Site	SNP	ENST00000372731.4	37	c.3156_splice	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.998181	0.74818	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7891	0.91966	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SPTAN1	130395082	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.232000	0.89796	2.761000	0.94854	0.591000	0.81541	.		0.532	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127	Intron	3	13	0	0	0	1	0	3	13				
LIN54	132660	broad.mit.edu	37	4	83857237	83857237	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	76aa02be-13b4-40c3-bb19-d0cf1c4cc210	g.chr4:83857237G>C	ENST00000340417.3	-	11	2119	c.1742C>G	c.(1741-1743)cCt>cGt	p.P581R	LIN54_ENST00000505397.1_Missense_Mutation_p.P581R|LIN54_ENST00000395283.2_Missense_Mutation_p.P492R|LIN54_ENST00000446851.2_Missense_Mutation_p.P360R|LIN54_ENST00000510557.1_Missense_Mutation_p.P360R|LIN54_ENST00000395282.2_3'UTR|LIN54_ENST00000442461.2_Missense_Mutation_p.P360R|LIN54_ENST00000506560.1_Missense_Mutation_p.P492R	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 DREAM MuvB core complex component	581	CRC. {ECO:0000255|PROSITE- ProRule:PRU00971}.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				CCCTATCTTAGGCTTAAAGGC	0.378																																						uc003hnx.3																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14						c.(1741-1743)cCt>cGt		Homo sapiens lin-54 homolog (C. elegans) (LIN54), transcript variant 1, mRNA.							160.0	142.0	148.0					4																	83857237		2203	4300	6503	SO:0001583	missense	132660				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr4:83857237G>C	BX537919	CCDS3599.1, CCDS47089.1, CCDS75157.1	4q21.22	2014-07-17	2014-07-17		ENSG00000189308	ENSG00000189308			25397	protein-coding gene	gene with protein product	"""CXC domain containing 1"""	613367	"""lin-54 homolog (C. elegans)"""			21498570	Standard	XM_005262749		Approved	MIP120, DKFZp686L1814, JC8.6, CXCDC1	uc003hnx.3	Q6MZP7	OTTHUMG00000130287	ENST00000340417.3:c.1742C>G	4.37:g.83857237G>C	ENSP00000341947:p.Pro581Arg		Somatic				LIN54_uc003hnz.3_Missense_Mutation_p.P360R|LIN54_uc003hny.3_Missense_Mutation_p.P180R|LIN54_uc010ijt.2_Missense_Mutation_p.P492R|LIN54_uc010iju.2_Missense_Mutation_p.P180R|LIN54_uc010ijv.2_Missense_Mutation_p.P360R	p.P581R	NM_194282	NP_919258	WXS	Illumina GAIIx	Phase_I	Q6MZP7	LIN54_HUMAN			10	2120	-		Hepatocellular(203;0.114)	581					Q32M68|Q32M69|Q6N071|Q76B60	Missense_Mutation	SNP	ENST00000340417.3	37	c.1742C>G	CCDS3599.1	.	.	.	.	.	.	.	.	.	.	G	19.61	3.860215	0.71834	.	.	ENSG00000189308	ENST00000340417;ENST00000395283;ENST00000442461;ENST00000446851;ENST00000510557;ENST00000506560;ENST00000505397	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.83385	0.5243	M	0.80982	2.52	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.998	D	0.85239	0.1037	9	0.87932	D	0	-16.2552	19.0569	0.93069	0.0:0.0:1.0:0.0	.	492;453;581	Q6MZP7-2;Q7Z3G2;Q6MZP7	.;.;LIN54_HUMAN	R	581;492;360;360;360;492;581	.	ENSP00000341947:P581R	P	-	2	0	LIN54	84076261	1.000000	0.71417	0.996000	0.52242	0.351000	0.29236	9.581000	0.98210	2.732000	0.93576	0.650000	0.86243	CCT		0.378	LIN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252626.2	NM_194282		17	94	0	0	0	1	0	17	94				
HLCS	3141	broad.mit.edu	37	21	38137432	38137432	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	76aa02be-13b4-40c3-bb19-d0cf1c4cc210	g.chr21:38137432G>C	ENST00000399120.1	-	9	2791	c.1561C>G	c.(1561-1563)Ctt>Gtt	p.L521V	HLCS_ENST00000336648.4_Missense_Mutation_p.L521V	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	521	BPL/LPL catalytic. {ECO:0000255|PROSITE- ProRule:PRU01067}.				biotin metabolic process (GO:0006768)|cell proliferation (GO:0008283)|histone biotinylation (GO:0071110)|histone modification (GO:0016570)|protein biotinylation (GO:0009305)|response to biotin (GO:0070781)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin-[acetyl-CoA-carboxylase] ligase activity (GO:0004077)|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity (GO:0004078)|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity (GO:0004079)|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity (GO:0004080)|biotin-protein ligase activity (GO:0018271)|enzyme binding (GO:0019899)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	AGAGTAGAAAGAGCACATCCC	0.572																																						uc010gnb.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24						c.(1561-1563)Ctt>Gtt		Homo sapiens holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) (HLCS), transcript variant 3, mRNA.	Biotin(DB00121)						166.0	129.0	142.0					21																	38137432		2203	4300	6503	SO:0001583	missense	3141				cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding	g.chr21:38137432G>C		CCDS13647.1	21q22.1	2012-07-13	2010-04-30		ENSG00000159267	ENSG00000159267	6.3.4.9, 6.3.4.10, 6.3.4.11, 6.3.4.15		4976	protein-coding gene	gene with protein product		609018	"""holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)"", ""holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)"""			7842009	Standard	NM_000411		Approved	HCS	uc021wjb.1	P50747	OTTHUMG00000086636	ENST00000399120.1:c.1561C>G	21.37:g.38137432G>C	ENSP00000382071:p.Leu521Val		Somatic				HLCS_uc021wjb.1_Missense_Mutation_p.L521V|HLCS_uc002yvs.3_Missense_Mutation_p.L521V	p.L521V	NM_001242784	NP_001229713	WXS	Illumina GAIIx	Phase_I	P50747	BPL1_HUMAN			8	2975	-		Myeloproliferative disorder(46;0.0422)	521					B2RAH1|D3DSG6|Q99451	Missense_Mutation	SNP	ENST00000399120.1	37	c.1561C>G	CCDS13647.1	.	.	.	.	.	.	.	.	.	.	G	8.286	0.816556	0.16607	.	.	ENSG00000159267	ENST00000399120;ENST00000336648	D;D	0.94232	-3.38;-3.38	5.82	0.378	0.16204	Biotin/lipoate A/B protein ligase (1);	0.376195	0.27076	N	0.021044	D	0.89518	0.6738	M	0.67953	2.075	0.09310	N	1	P	0.43231	0.801	B	0.40782	0.34	T	0.82762	-0.0297	10	0.66056	D	0.02	.	3.6012	0.08026	0.1195:0.1058:0.3211:0.4537	.	521	P50747	BPL1_HUMAN	V	521	ENSP00000382071:L521V;ENSP00000338387:L521V	ENSP00000338387:L521V	L	-	1	0	HLCS	37059302	0.459000	0.25768	0.001000	0.08648	0.020000	0.10135	0.826000	0.27407	0.043000	0.15746	-0.262000	0.10625	CTT		0.572	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194687.2			4	75	0	0	0	1	0	4	75				
PSD3	23362	broad.mit.edu	37	8	18513180	18513180	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	76aa02be-13b4-40c3-bb19-d0cf1c4cc210	g.chr8:18513180T>C	ENST00000327040.8	-	10	2290	c.2188A>G	c.(2188-2190)Atc>Gtc	p.I730V	PSD3_ENST00000523619.1_Missense_Mutation_p.I665V|PSD3_ENST00000286485.8_Missense_Mutation_p.I196V|PSD3_ENST00000428502.2_Missense_Mutation_p.I59V|PSD3_ENST00000440756.2_Missense_Mutation_p.I732V	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	731	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TCATTCTTGATTGAGTTGTAC	0.373																																						uc003wza.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(2188-2190)Atc>Gtc		Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA.							111.0	103.0	106.0					8																	18513180		2203	4300	6503	SO:0001583	missense	23362				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	g.chr8:18513180T>C	AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.2188A>G	8.37:g.18513180T>C	ENSP00000324127:p.Ile730Val		Somatic				PSD3_uc003wyx.4_Missense_Mutation_p.I59V|PSD3_uc003wyy.3_Missense_Mutation_p.I196V|PSD3_uc003wyz.3_Missense_Mutation_p.I31V	p.I730V	NM_015310	NP_056125	WXS	Illumina GAIIx	Phase_I	Q9NYI0	PSD3_HUMAN		Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)	9	2291	-			731			SEC7.		A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Missense_Mutation	SNP	ENST00000327040.8	37	c.2188A>G	CCDS43720.1	.	.	.	.	.	.	.	.	.	.	T	18.86	3.713769	0.68730	.	.	ENSG00000156011	ENST00000327040;ENST00000440756;ENST00000381690;ENST00000286485;ENST00000428502;ENST00000523619	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	5.52	5.52	0.82312	SEC7-like, alpha orthogonal bundle (1);SEC7-like (4);	0.000000	0.52532	U	0.000079	T	0.75961	0.3921	M	0.65975	2.015	0.51012	D	0.9999	D;D;D;D	0.69078	0.994;0.995;0.997;0.992	D;D;D;D	0.79108	0.968;0.98;0.965;0.992	T	0.78623	-0.2132	10	0.87932	D	0	.	12.0105	0.53284	0.0:0.0:0.0:1.0	.	730;731;196;59	E9KL50;Q9NYI0;Q9NYI0-3;B4DKF8	.;PSD3_HUMAN;.;.	V	730;732;59;196;59;665	ENSP00000324127:I730V;ENSP00000401704:I732V;ENSP00000286485:I196V;ENSP00000430640:I665V	ENSP00000286485:I196V	I	-	1	0	PSD3	18557460	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	5.063000	0.64332	2.097000	0.63578	0.519000	0.50382	ATC		0.373	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		3	88	0	0	0	1	0	3	88				
ZNF700	90592	broad.mit.edu	37	19	12060967	12060967	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	76aa02be-13b4-40c3-bb19-d0cf1c4cc210	g.chr19:12060967G>A	ENST00000254321.5	+	4	2271	c.2128G>A	c.(2128-2130)Gga>Aga	p.G710R	ZNF763_ENST00000591944.1_Intron|ZNF700_ENST00000482090.1_Missense_Mutation_p.G692R|ZNF763_ENST00000590798.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000538752.1_Intron	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	710					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						TAAGGAATGCGGAAAAGCATT	0.383																																						uc010xme.2																		ZNF700/MAST1_ENST00000251472(2)	0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						c.(2182-2184)Gga>Aga		Homo sapiens zinc finger protein 700 (ZNF700), mRNA.							84.0	78.0	80.0					19																	12060967		2203	4300	6503	SO:0001583	missense	90592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12060967G>A	AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"""Zinc fingers, C2H2-type"", ""-"""	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.2128G>A	19.37:g.12060967G>A	ENSP00000254321:p.Gly710Arg		Somatic				ZNF700_uc002msu.3_Missense_Mutation_p.G710R|ZNF700_uc010xmf.2_Intron	p.G728R			WXS	Illumina GAIIx	Phase_I	Q9H0M5	ZN700_HUMAN			4	2373	+			710					B9EGU4	Missense_Mutation	SNP	ENST00000254321.5	37	c.2182G>A	CCDS32915.1	.	.	.	.	.	.	.	.	.	.	g	9.708	1.156403	0.21454	.	.	ENSG00000196757	ENST00000254321	T	0.21361	2.01	0.826	-1.45	0.08828	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43411	0.1246	M	0.86028	2.79	0.26756	N	0.970108	D	0.89917	1.0	D	0.75020	0.985	T	0.26224	-1.0109	9	0.54805	T	0.06	.	7.1518	0.25614	0.2422:0.0:0.7578:0.0	.	710	Q9H0M5	ZN700_HUMAN	R	710	ENSP00000254321:G710R	ENSP00000254321:G710R	G	+	1	0	ZNF700	11921967	0.997000	0.39634	0.000000	0.03702	0.050000	0.14768	1.988000	0.40697	-0.567000	0.06046	0.313000	0.20887	GGA		0.383	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2	NM_144566		3	58	0	0	0	1	0	3	58				
TSPAN8	7103	broad.mit.edu	37	12	71519144	71519144	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	76aa02be-13b4-40c3-bb19-d0cf1c4cc210	g.chr12:71519144C>A	ENST00000393330.2	-	12	1236	c.684G>T	c.(682-684)atG>atT	p.M228I	TSPAN8_ENST00000247829.3_Missense_Mutation_p.M228I|TSPAN8_ENST00000546561.1_Missense_Mutation_p.M228I|TSPAN8_ENST00000552128.1_Missense_Mutation_p.M145I			P19075	TSN8_HUMAN	tetraspanin 8	228					negative regulation of blood coagulation (GO:0030195)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			AATACAGGACCATAGAAAACA	0.353																																						uc001swk.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19						c.(682-684)atG>atT		Homo sapiens tetraspanin 8 (TSPAN8), mRNA.							124.0	115.0	118.0					12																	71519144		2203	4300	6503	SO:0001583	missense	7103				protein glycosylation	integral to membrane|lysosome	signal transducer activity	g.chr12:71519144C>A	M35252	CCDS8999.1	12q14.1-q21.1	2013-02-14	2005-03-21	2005-03-21		ENSG00000127324		"""Tetraspanins"""	11855	protein-coding gene	gene with protein product		600769	"""transmembrane 4 superfamily member 3"""	TM4SF3		2395876	Standard	NM_004616		Approved	CO-029	uc001swj.1	P19075		ENST00000393330.2:c.684G>T	12.37:g.71519144C>A	ENSP00000377003:p.Met228Ile		Somatic				TSPAN8_uc009zrt.1_Missense_Mutation_p.M228I|TSPAN8_uc001swj.1_Missense_Mutation_p.M228I	p.M228I	NM_004616	NP_004607	WXS	Illumina GAIIx	Phase_I	P19075	TSN8_HUMAN	LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)		11	1237	-			228					B2R7T7|Q9BS78	Missense_Mutation	SNP	ENST00000393330.2	37	c.684G>T	CCDS8999.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.609095	0.46527	.	.	ENSG00000127324	ENST00000393330;ENST00000247829;ENST00000546561;ENST00000552128	T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21	6.16	4.27	0.50696	.	0.252557	0.49305	N	0.000143	T	0.75428	0.3848	L	0.61387	1.9	0.39786	D	0.972371	P	0.39181	0.663	B	0.41510	0.359	T	0.74893	-0.3509	10	0.30078	T	0.28	.	12.1046	0.53805	0.3307:0.6693:0.0:0.0	.	228	P19075	TSN8_HUMAN	I	228;228;228;145	ENSP00000377003:M228I;ENSP00000247829:M228I;ENSP00000447160:M228I;ENSP00000449820:M145I	ENSP00000247829:M228I	M	-	3	0	TSPAN8	69805411	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.873000	0.39558	1.590000	0.49995	0.650000	0.86243	ATG		0.353	TSPAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404737.1	NM_004616		49	73	0	0	0	1	0	49	73				
CNOT1	23019	broad.mit.edu	37	16	58560012	58560012	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	76aa02be-13b4-40c3-bb19-d0cf1c4cc210	g.chr16:58560012G>A	ENST00000317147.5	-	45	6816	c.6484C>T	c.(6484-6486)Ccc>Tcc	p.P2162S	CNOT1_ENST00000245138.4_Missense_Mutation_p.P1013S|CNOT1_ENST00000569240.1_Missense_Mutation_p.P2157S	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2162					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AGAATCCGGGGAGCAATGTTA	0.378																																						uc002env.3																			0				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87						c.(6484-6486)Ccc>Tcc		Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.							112.0	111.0	111.0					16																	58560012		2198	4300	6498	SO:0001583	missense	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58560012G>A	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.6484C>T	16.37:g.58560012G>A	ENSP00000320949:p.Pro2162Ser		Somatic				CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Missense_Mutation_p.P2157S|CNOT1_uc002ent.3_Missense_Mutation_p.P100S|CNOT1_uc010vik.2_Missense_Mutation_p.P1119S	p.P2162S	NM_016284	NP_057368	WXS	Illumina GAIIx	Phase_I	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	44	6777	-			2162					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	c.6484C>T	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	G	32	5.118834	0.94385	.	.	ENSG00000125107	ENST00000317147;ENST00000422872;ENST00000546037;ENST00000245138	T	0.63096	-0.02	5.68	5.68	0.88126	CCR4-Not complex component, Not1, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.86012	0.5831	H	0.95574	3.69	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.89592	0.3828	10	0.72032	D	0.01	.	18.7868	0.91959	0.0:0.0:1.0:0.0	.	1013;2162;2157	B5MDN3;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	S	2162;856;167;1013	ENSP00000320949:P2162S	ENSP00000245138:P1013S	P	-	1	0	CNOT1	57117513	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.626000	0.98410	2.682000	0.91365	0.557000	0.71058	CCC		0.378	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		32	94	0	0	0	1	0	32	94				
TTC39C	125488	broad.mit.edu	37	18	21646063	21646063	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	76aa02be-13b4-40c3-bb19-d0cf1c4cc210	g.chr18:21646063G>A	ENST00000317571.3	+	3	540	c.304G>A	c.(304-306)Gct>Act	p.A102T	TTC39C_ENST00000578150.1_3'UTR|TTC39C_ENST00000304621.6_Missense_Mutation_p.A41T	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	102										breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						AAGTGAAGAGGCTGGAGTAAT	0.358																																						uc002kuw.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						c.(304-306)Gct>Act		Homo sapiens tetratricopeptide repeat domain 39C (TTC39C), transcript variant 1, mRNA.							116.0	128.0	124.0					18																	21646063		2203	4300	6503	SO:0001583	missense	125488						binding	g.chr18:21646063G>A	AK091080	CCDS32804.1, CCDS45839.1, CCDS58616.1	18q11.2	2014-02-07	2008-06-23	2008-06-23	ENSG00000168234	ENSG00000168234		"""Tetratricopeptide (TTC) repeat domain containing"""	26595	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 17"""	C18orf17		14702039	Standard	NM_153211		Approved	FLJ33761, HsT2697	uc002kuw.3	Q8N584	OTTHUMG00000179403	ENST00000317571.3:c.304G>A	18.37:g.21646063G>A	ENSP00000323645:p.Ala102Thr		Somatic				TTC39C_uc002kuu.3_Missense_Mutation_p.A41T	p.A102T	NM_001135993	NP_694943	WXS	Illumina GAIIx	Phase_I	Q8N584	TT39C_HUMAN			2	756	+			102					B7WP63|J3QRR1|Q0VAJ2|Q8N284	Missense_Mutation	SNP	ENST00000317571.3	37	c.304G>A	CCDS45839.1	.	.	.	.	.	.	.	.	.	.	G	9.502	1.103513	0.20632	.	.	ENSG00000168234	ENST00000304621;ENST00000317571	T;T	0.46819	0.86;0.86	5.41	5.41	0.78517	.	0.050625	0.85682	D	0.000000	T	0.40694	0.1127	L	0.36672	1.1	0.80722	D	1	B	0.26902	0.163	B	0.27380	0.079	T	0.21211	-1.0252	10	0.14252	T	0.57	-1.7976	19.1675	0.93562	0.0:0.0:1.0:0.0	.	102	Q8N584	TT39C_HUMAN	T	41;102	ENSP00000306598:A41T;ENSP00000323645:A102T	ENSP00000306598:A41T	A	+	1	0	TTC39C	19900061	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	5.237000	0.65360	2.545000	0.85829	0.561000	0.74099	GCT		0.358	TTC39C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446107.1	NM_153211		12	41	0	0	0	1	0	12	41				
TNIK	23043	broad.mit.edu	37	3	170802927	170802927	+	Missense_Mutation	SNP	T	T	A			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	76aa02be-13b4-40c3-bb19-d0cf1c4cc210	g.chr3:170802927T>A	ENST00000436636.2	-	25	3322	c.2978A>T	c.(2977-2979)gAt>gTt	p.D993V	TNIK_ENST00000341852.6_Missense_Mutation_p.D909V|TNIK_ENST00000470834.1_Missense_Mutation_p.D956V|TNIK_ENST00000357327.5_Missense_Mutation_p.D964V|TNIK_ENST00000369326.5_Missense_Mutation_p.D971V|TNIK_ENST00000538048.1_Missense_Mutation_p.D945V|TNIK_ENST00000460047.1_Missense_Mutation_p.D930V|TNIK_ENST00000488470.1_Missense_Mutation_p.D938V|TNIK_ENST00000475336.1_Missense_Mutation_p.D901V|TNIK_ENST00000284483.8_Missense_Mutation_p.D985V	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	993	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TGATTCCTCATCCTCTTCATC	0.478																																						uc003fhh.2																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62						c.(2977-2979)gAt>gTt		Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA.							62.0	63.0	62.0					3																	170802927		1905	4121	6026	SO:0001583	missense	23043				Wnt receptor signaling pathway|actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170802927T>A	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.2978A>T	3.37:g.170802927T>A	ENSP00000399511:p.Asp993Val		Somatic				TNIK_uc003fhi.2_Missense_Mutation_p.D938V|TNIK_uc003fhj.2_Missense_Mutation_p.D964V|TNIK_uc003fhk.2_Missense_Mutation_p.D985V|TNIK_uc003fhl.2_Missense_Mutation_p.D909V|TNIK_uc003fhm.2_Missense_Mutation_p.D930V|TNIK_uc003fhn.2_Missense_Mutation_p.D956V|TNIK_uc003fho.2_Missense_Mutation_p.D901V|TNIK_uc003fhg.2_Missense_Mutation_p.D171V|TNIK_uc003fhp.3_5'Flank	p.D993V	NM_015028	NP_055843	WXS	Illumina GAIIx	Phase_I	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		24	3323	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		993			Mediates interaction with NEDD4.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	37	c.2978A>T	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	T	14.98	2.698264	0.48307	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.73575	-0.74;-0.73;-0.75;-0.76;-0.74;-0.76;-0.75;-0.76;-0.76;-0.75	5.37	5.37	0.77165	.	0.323692	0.32640	N	0.005822	T	0.71484	0.3345	N	0.08118	0	0.80722	D	1	P;P;P;P;P;D;P;D	0.65815	0.95;0.758;0.95;0.95;0.503;0.978;0.95;0.995	P;B;P;P;B;P;P;P	0.62184	0.698;0.425;0.698;0.698;0.198;0.836;0.698;0.899	T	0.76277	-0.3018	10	0.45353	T	0.12	.	15.5421	0.76062	0.0:0.0:0.0:1.0	.	901;956;930;909;985;964;938;993	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	V	993;971;945;909;985;901;964;930;938;956	ENSP00000399511:D993V;ENSP00000358332:D971V;ENSP00000443278:D945V;ENSP00000345352:D909V;ENSP00000284483:D985V;ENSP00000418156:D901V;ENSP00000349880:D964V;ENSP00000418916:D930V;ENSP00000418378:D938V;ENSP00000419990:D956V	ENSP00000284483:D985V	D	-	2	0	TNIK	172285621	1.000000	0.71417	0.997000	0.53966	0.302000	0.27658	7.421000	0.80204	2.254000	0.74563	0.460000	0.39030	GAT		0.478	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		5	18	0	0	0	1	0	5	18				
CNOT2	4848	broad.mit.edu	37	12	70732321	70732321	+	Silent	SNP	A	A	G			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	76aa02be-13b4-40c3-bb19-d0cf1c4cc210	g.chr12:70732321A>G	ENST00000418359.3	+	11	1450	c.999A>G	c.(997-999)aaA>aaG	p.K333K	CNOT2_ENST00000229195.3_Silent_p.K333K|CNOT2_ENST00000551483.1_5'UTR	NM_001199302.1	NP_001186231.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	333					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription corepressor binding (GO:0001226)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			AGCAGAAAAAAGGGATCCAGG	0.323																																						uc001svv.3																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20						c.(997-999)aaA>aaG		Homo sapiens CCR4-NOT transcription complex, subunit 2 (CNOT2), transcript variant 2, mRNA.							87.0	90.0	89.0					12																	70732321		2203	4300	6503	SO:0001819	synonymous_variant	4848				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	RNA polymerase II transcription cofactor activity|protein binding	g.chr12:70732321A>G	AF180473	CCDS31857.1	12q15	2008-05-14				ENSG00000111596			7878	protein-coding gene	gene with protein product		604909		NOT2		10637334	Standard	NM_014515		Approved	CDC36, NOT2H	uc001svv.3	Q9NZN8		ENST00000418359.3:c.999A>G	12.37:g.70732321A>G			Somatic				CNOT2_uc009zro.3_Silent_p.K333K|CNOT2_uc009zrp.3_Silent_p.K313K|CNOT2_uc009zrq.3_Silent_p.K333K|CNOT2_uc001svw.1_Silent_p.K73K	p.K333K	NM_014515	NP_055330	WXS	Illumina GAIIx	Phase_I	Q9NZN8	CNOT2_HUMAN	GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		9	1581	+	Renal(347;0.236)		333					Q9H3E0|Q9NSX5|Q9NWR6|Q9P028	Silent	SNP	ENST00000418359.3	37	c.999A>G	CCDS31857.1	.	.	.	.	.	.	.	.	.	.	A	5.067	0.198090	0.09652	.	.	ENSG00000111596	ENST00000552599	.	.	.	5.71	-0.549	0.11829	.	.	.	.	.	T	0.55955	0.1953	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50268	-0.8848	4	.	.	.	-7.611	9.9087	0.41392	0.6553:0.0:0.3447:0.0	.	.	.	.	G	44	.	.	R	+	1	2	CNOT2	69018588	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	2.180000	0.42537	-0.100000	0.12241	-0.376000	0.06991	AGG		0.323	CNOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404260.1			3	107	0	0	0	1	0	3	107				
INO80E	283899	broad.mit.edu	37	16	30012109	30012109	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	76aa02be-13b4-40c3-bb19-d0cf1c4cc210	g.chr16:30012109G>A	ENST00000563197.1	+	4	1253	c.236G>A	c.(235-237)aGc>aAc	p.S79N	INO80E_ENST00000304516.7_Missense_Mutation_p.S79N|INO80E_ENST00000567705.1_Missense_Mutation_p.S79N|INO80E_ENST00000567254.1_Missense_Mutation_p.S79N	NM_173618.1	NP_775889.1	Q8NBZ0	IN80E_HUMAN	INO80 complex subunit E	79					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	6						TCAGATAACAGCGAGACGGAG	0.587																																						uc002dvg.1																			0				endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	6						c.(235-237)aGc>aAc		Homo sapiens INO80 complex subunit E (INO80E), mRNA.							74.0	61.0	65.0					16																	30012109		2197	4300	6497	SO:0001583	missense	283899				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex		g.chr16:30012109G>A	AK075133	CCDS10665.1	16p11.2	2011-07-06	2008-08-07	2008-08-07	ENSG00000169592	ENSG00000169592		"""INO80 complex subunits"""	26905	protein-coding gene	gene with protein product			"""coiled-coil domain containing 95"""	CCDC95		16230350	Standard	NM_173618		Approved	FLJ90652	uc002dvg.1	Q8NBZ0	OTTHUMG00000132114	ENST00000563197.1:c.236G>A	16.37:g.30012109G>A	ENSP00000457016:p.Ser79Asn		Somatic				BOLA2_uc010bzb.1_Intron|INO80E_uc002dvh.1_Non-coding_Transcript	p.S79N	NM_173618	NP_775889	WXS	Illumina GAIIx	Phase_I	Q8NBZ0	IN80E_HUMAN			3	337	+			79					Q6Y2K3	Missense_Mutation	SNP	ENST00000563197.1	37	c.236G>A	CCDS10665.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.901111	0.92035	.	.	ENSG00000169592	ENST00000304516;ENST00000380503;ENST00000540562	.	.	.	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.76271	0.3964	M	0.61703	1.905	0.54753	D	0.999982	P;D;D	0.57899	0.945;0.981;0.981	D;D;D	0.63597	0.916;0.916;0.916	T	0.76364	-0.2986	9	0.59425	D	0.04	-12.833	17.7145	0.88332	0.0:0.0:1.0:0.0	.	103;79;79	Q8TEI7;Q6Y2K3;Q8NBZ0	.;.;IN80E_HUMAN	N	79;103;79	.	ENSP00000303977:S79N	S	+	2	0	INO80E	29919610	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	6.287000	0.72671	2.790000	0.95986	0.591000	0.81541	AGC		0.587	INO80E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255156.2	NM_173618		3	58	0	0	0	1	0	3	58				
PCDHB6	56130	broad.mit.edu	37	5	140530372	140530372	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	76aa02be-13b4-40c3-bb19-d0cf1c4cc210	g.chr5:140530372C>A	ENST00000231136.1	+	1	534	c.534C>A	c.(532-534)caC>caA	p.H178Q	PCDHB6_ENST00000543635.1_Missense_Mutation_p.H42Q	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	178	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCACTTCCACGTTCTCACCC	0.547																																						uc003lir.3																			0				cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84						c.(532-534)caC>caA		Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.							142.0	150.0	147.0					5																	140530372		2203	4300	6503	SO:0001583	missense	56130				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140530372C>A	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.534C>A	5.37:g.140530372C>A	ENSP00000231136:p.His178Gln		Somatic					p.H178Q	NM_018939	NP_061762	WXS	Illumina GAIIx	Phase_I	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	534	+			178			Cadherin 2.		B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.534C>A	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	C	11.11	1.541479	0.27563	.	.	ENSG00000113211	ENST00000543635;ENST00000231136	T;T	0.50277	0.75;0.75	4.7	-0.908	0.10517	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.52885	0.1762	L	0.39692	1.235	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.42120	-0.9470	9	0.66056	D	0.02	.	5.7518	0.18150	0.1253:0.4472:0.0:0.4275	.	178	Q9Y5E3	PCDB6_HUMAN	Q	42;178	ENSP00000438466:H42Q;ENSP00000231136:H178Q	ENSP00000231136:H178Q	H	+	3	2	PCDHB6	140510556	0.000000	0.05858	0.987000	0.45799	0.946000	0.59487	-1.909000	0.01586	-0.058000	0.13177	-0.254000	0.11334	CAC		0.547	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		12	357	0	0	0	1	0	12	357				
MID2	11043	broad.mit.edu	37	X	107148766	107148766	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	76aa02be-13b4-40c3-bb19-d0cf1c4cc210	g.chrX:107148766G>A	ENST00000262843.6	+	5	1531	c.983G>A	c.(982-984)cGg>cAg	p.R328Q	MID2_ENST00000443968.2_Missense_Mutation_p.R328Q|RP6-191P20.4_ENST00000430140.1_RNA	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	328					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein localization to microtubule (GO:0035372)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						TGTCTTGAACGGTCAACAGTC	0.403																																						uc004enl.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						c.(982-984)cGg>cAg		Homo sapiens midline 2 (MID2), transcript variant 1, mRNA.							163.0	145.0	151.0					X																	107148766		2203	4300	6503	SO:0001583	missense	11043					centrosome|microtubule	ligase activity|zinc ion binding	g.chrX:107148766G>A		CCDS14532.2, CCDS14533.2	Xq22.1-q22.2	2013-02-11			ENSG00000080561	ENSG00000080561		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7096	protein-coding gene	gene with protein product		300204				10400986	Standard	NM_012216		Approved	FXY2, TRIM1, RNF60	uc004enl.3	Q9UJV3	OTTHUMG00000022171	ENST00000262843.6:c.983G>A	X.37:g.107148766G>A	ENSP00000262843:p.Arg328Gln		Somatic				MID2_uc004enk.3_Missense_Mutation_p.R328Q	p.R328Q	NM_012216	NP_036348	WXS	Illumina GAIIx	Phase_I	Q9UJV3	TRIM1_HUMAN			4	1556	+			328					A6NEL8|A6PVI5|Q5JYF5|Q8WWK1|Q9UJR9	Missense_Mutation	SNP	ENST00000262843.6	37	c.983G>A	CCDS14532.2	.	.	.	.	.	.	.	.	.	.	G	27.8	4.865898	0.91511	.	.	ENSG00000080561	ENST00000262843;ENST00000443968	T;T	0.58652	0.32;0.34	5.58	5.58	0.84498	B-box, C-terminal (1);	0.103566	0.64402	D	0.000002	T	0.59418	0.2192	L	0.53249	1.67	0.54753	D	0.999988	D;P	0.61697	0.99;0.501	P;B	0.48114	0.567;0.179	T	0.57171	-0.7857	10	0.26408	T	0.33	.	15.8544	0.78965	0.0:0.0:1.0:0.0	.	328;328	Q9UJV3;Q9UJV3-2	TRIM1_HUMAN;.	Q	328	ENSP00000262843:R328Q;ENSP00000413976:R328Q	ENSP00000262843:R328Q	R	+	2	0	MID2	107035422	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.317000	0.79018	2.343000	0.79666	0.600000	0.82982	CGG		0.403	MID2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057852.2	NM_012216		9	115	0	0	0	1	0	9	115				
NLRP8	126205	broad.mit.edu	37	19	56466799	56466799	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	76aa02be-13b4-40c3-bb19-d0cf1c4cc210	g.chr19:56466799G>A	ENST00000291971.3	+	3	1446	c.1375G>A	c.(1375-1377)Gca>Aca	p.A459T	NLRP8_ENST00000590542.1_Missense_Mutation_p.A459T	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	459	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TCACTTGGCCGCAGACAGCAT	0.498																																						uc002qmh.3																			0				breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35						c.(1375-1377)Gca>Aca		Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.							108.0	101.0	104.0					19																	56466799		2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56466799G>A	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.1375G>A	19.37:g.56466799G>A	ENSP00000291971:p.Ala459Thr		Somatic				NLRP8_uc010etg.3_Missense_Mutation_p.A459T	p.A459T	NM_176811	NP_789781	WXS	Illumina GAIIx	Phase_I	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	2	1446	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	459			NACHT.		Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.1375G>A	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.979924	0.34942	.	.	ENSG00000179709	ENST00000291971	D	0.83837	-1.77	2.04	0.947	0.19555	.	.	.	.	.	D	0.87438	0.6177	M	0.74647	2.275	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.65010	0.928;0.931	T	0.75419	-0.3324	9	0.72032	D	0.01	.	5.6935	0.17843	0.0:0.0:0.6797:0.3203	.	459;459	Q86W28-2;Q86W28	.;NALP8_HUMAN	T	459	ENSP00000291971:A459T	ENSP00000291971:A459T	A	+	1	0	NLRP8	61158611	0.057000	0.20700	0.001000	0.08648	0.002000	0.02628	2.681000	0.46926	0.401000	0.25424	-0.426000	0.05927	GCA		0.498	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		4	118	0	0	0	1	0	4	118				
BGN	633	broad.mit.edu	37	X	152772037	152772037	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	76aa02be-13b4-40c3-bb19-d0cf1c4cc210	g.chrX:152772037G>A	ENST00000331595.4	+	5	802	c.616G>A	c.(616-618)Gat>Aat	p.D206N	BGN_ENST00000480756.1_3'UTR	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN	biglycan	206					blood vessel remodeling (GO:0001974)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|transport vesicle (GO:0030133)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|glycosaminoglycan binding (GO:0005539)			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGAGCCTTCGATGGCCTGAA	0.612																																						uc004fhr.2																			0				breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16						c.(616-618)Gat>Aat		Homo sapiens biglycan (BGN), mRNA.							121.0	103.0	109.0					X																	152772037		2203	4300	6503	SO:0001583	missense	633					proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent	g.chrX:152772037G>A	AK092954	CCDS14721.1	Xq28	2008-02-05			ENSG00000182492	ENSG00000182492		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	1044	protein-coding gene	gene with protein product	"""biglycan proteoglycan"""	301870				1612609	Standard	NM_001711		Approved	DSPG1, SLRR1A	uc004fhr.2	P21810	OTTHUMG00000024205	ENST00000331595.4:c.616G>A	X.37:g.152772037G>A	ENSP00000327336:p.Asp206Asn		Somatic					p.D206N	NM_001711	NP_001702	WXS	Illumina GAIIx	Phase_I	P21810	PGS1_HUMAN			4	852	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		206					D3DWU3|P13247	Missense_Mutation	SNP	ENST00000331595.4	37	c.616G>A	CCDS14721.1	.	.	.	.	.	.	.	.	.	.	G	11.28	1.591485	0.28357	.	.	ENSG00000182492	ENST00000331595;ENST00000431891;ENST00000370204;ENST00000430380	T;D;T	0.82167	0.39;-1.58;0.39	4.71	3.85	0.44370	.	0.113514	0.64402	D	0.000015	T	0.70107	0.3186	N	0.25060	0.705	0.41541	D	0.988511	B	0.09022	0.002	B	0.08055	0.003	T	0.61362	-0.7078	10	0.20046	T	0.44	-18.0593	11.3012	0.49306	0.0942:0.0:0.9058:0.0	.	206	P21810	PGS1_HUMAN	N	206;223;145;145	ENSP00000327336:D206N;ENSP00000402525:D223N;ENSP00000359223:D145N	ENSP00000327336:D206N	D	+	1	0	BGN	152425231	0.997000	0.39634	0.117000	0.21633	0.487000	0.33371	2.878000	0.48515	0.911000	0.36747	0.529000	0.55759	GAT		0.612	BGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060981.1	NM_001711		12	63	0	0	0	1	0	12	63				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	76aa02be-13b4-40c3-bb19-d0cf1c4cc210	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		38	65	0	0	0	1	0	38	65				
DSCAM	1826	broad.mit.edu	37	21	41539194	41539194	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	76aa02be-13b4-40c3-bb19-d0cf1c4cc210	g.chr21:41539194T>C	ENST00000400454.1	-	16	3446	c.2969A>G	c.(2968-2970)gAa>gGa	p.E990G		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	990	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CAGGTGAACTTCCTGAGGTGG	0.532																																					Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(2968-2970)gAa>gGa		Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.							99.0	99.0	99.0					21																	41539194		1927	4128	6055	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41539194T>C	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.2969A>G	21.37:g.41539194T>C	ENSP00000383303:p.Glu990Gly		Somatic				DSCAM_uc002yyr.1_Non-coding_Transcript	p.E990G	NM_001389	NP_001380	WXS	Illumina GAIIx	Phase_I	O60469	DSCAM_HUMAN			15	3421	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	990			Fibronectin type-III 2.		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.2969A>G	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	T	15.26	2.781719	0.49891	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.55760	0.5;0.5	5.22	5.22	0.72569	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.106075	0.64402	D	0.000004	T	0.34716	0.0907	N	0.11789	0.175	0.38613	D	0.95094	B	0.21381	0.055	B	0.24701	0.055	T	0.26950	-1.0088	10	0.30854	T	0.27	.	11.8118	0.52188	0.0:0.0:0.0:1.0	.	990	O60469	DSCAM_HUMAN	G	990;742	ENSP00000383303:E990G;ENSP00000385342:E742G	ENSP00000383303:E990G	E	-	2	0	DSCAM	40461064	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.310000	0.65780	2.099000	0.63709	0.533000	0.62120	GAA		0.532	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		3	100	0	0	0	1	0	3	100				
CSRNP3	80034	broad.mit.edu	37	2	166536026	166536026	+	Silent	SNP	C	C	T			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	76aa02be-13b4-40c3-bb19-d0cf1c4cc210	g.chr2:166536026C>T	ENST00000342316.4	+	5	1793	c.1521C>T	c.(1519-1521)tcC>tcT	p.S507S	CSRNP3_ENST00000314499.7_Silent_p.S507S|CSRNP3_ENST00000409420.1_Silent_p.S539S	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	507					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						GCTCCTCTTCCGAAAATGATA	0.512																																						uc002udf.3																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						c.(1519-1521)tcC>tcT		Homo sapiens cysteine-serine-rich nuclear protein 3 (CSRNP3), transcript variant 1, mRNA.							89.0	75.0	80.0					2																	166536026		2203	4300	6503	SO:0001819	synonymous_variant	80034				apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:166536026C>T	AB063300	CCDS2225.1	2q24.3	2012-04-17	2009-01-07	2009-01-07	ENSG00000178662	ENSG00000178662		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30729	protein-coding gene	gene with protein product	"""TGF beta induced apotosis protein 2"", ""protein phosphatase 1, regulatory subunit 73"""		"""family with sequence similarity 130, member A2"""	FAM130A2		17726538	Standard	NM_024969		Approved	FLJ32093, TAIP-2, PPP1R73	uc002udg.3	Q8WYN3	OTTHUMG00000132145	ENST00000342316.4:c.1521C>T	2.37:g.166536026C>T			Somatic				CSRNP3_uc002udg.3_Silent_p.S507S	p.S507S	NM_001172173	NP_079245	WXS	Illumina GAIIx	Phase_I	Q8WYN3	CSRN3_HUMAN			6	1897	+			507					B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	Silent	SNP	ENST00000342316.4	37	c.1521C>T	CCDS2225.1																																																																																				0.512	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255191.2	NM_024969		16	37	0	0	0	1	0	16	37				
FAM76A	199870	broad.mit.edu	37	1	28087061	28087062	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr1:28087061_28087062delCA	ENST00000373954.6	+	9	995_996	c.893_894delCA	c.(892-894)tcafs	p.S298fs	FAM76A_ENST00000419687.2_Frame_Shift_Del_p.S218fs|FAM76A_ENST00000373949.1_Frame_Shift_Del_p.S269fs|FAM76A_ENST00000010299.6_Frame_Shift_Del_p.S332fs|FAM76A_ENST00000234549.7_Frame_Shift_Del_p.S303fs	NM_001143912.1|NM_152660.2	NP_001137384.1|NP_689873.1	Q8TAV0	FA76A_HUMAN	family with sequence similarity 76, member A	298										endometrium(4)|kidney(2)|large_intestine(1)|lung(2)	9		Colorectal(325;0.000147)|all_lung(284;0.00181)|Lung NSC(340;0.00278)|Renal(390;0.00357)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00253)|KIRC - Kidney renal clear cell carcinoma(1967;0.00292)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)		AGCAAGAAGTCAGAGAAGTCAG	0.48																																						uc001bor.3																			0				endometrium(4)|kidney(2)|large_intestine(1)|lung(2)	9						c.(994-996)tcafs		Homo sapiens family with sequence similarity 76, member A (FAM76A), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	199870							g.chr1:28087061_28087062delCA	AK098318	CCDS309.1, CCDS44092.1, CCDS44093.1, CCDS44094.1, CCDS44095.1	1p35.3	2008-02-05			ENSG00000009780	ENSG00000009780			28530	protein-coding gene	gene with protein product							Standard	NM_001143912		Approved	MGC34648	uc001bor.3	Q8TAV0	OTTHUMG00000003729	ENST00000373954.6:c.893_894delCA	1.37:g.28087061_28087062delCA	ENSP00000363065:p.Ser298fs		Somatic				FAM76A_uc001boq.3_Frame_Shift_Del_p.S298fs|FAM76A_uc001bos.3_Frame_Shift_Del_p.S303fs|FAM76A_uc001bot.3_Frame_Shift_Del_p.S269fs|FAM76A_uc010ofm.2_Frame_Shift_Del_p.S218fs	p.S332fs	NM_001143912	NP_001137384	WXS	Illumina GAIIx	Phase_I	Q8TAV0	FA76A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00253)|KIRC - Kidney renal clear cell carcinoma(1967;0.00292)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)	9	1097_1098	+		Colorectal(325;0.000147)|all_lung(284;0.00181)|Lung NSC(340;0.00278)|Renal(390;0.00357)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0966)	298					B4DWT3|O95565|O95566|Q8N7J5	Frame_Shift_Del	DEL	ENST00000373954.6	37	c.995_996delCA	CCDS309.1																																																																																				0.480	FAM76A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000010514.3	NM_152660		19	17						19	17	---	---	---	---
FAM76A	199870	broad.mit.edu	37	1	28087061	28087062	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	76aa02be-13b4-40c3-bb19-d0cf1c4cc210	g.chr1:28087061_28087062delCA	ENST00000373954.6	+	9	995_996	c.893_894delCA	c.(892-894)tcafs	p.S298fs	FAM76A_ENST00000419687.2_Frame_Shift_Del_p.S218fs|FAM76A_ENST00000373949.1_Frame_Shift_Del_p.S269fs|FAM76A_ENST00000010299.6_Frame_Shift_Del_p.S332fs|FAM76A_ENST00000234549.7_Frame_Shift_Del_p.S303fs	NM_001143912.1|NM_152660.2	NP_001137384.1|NP_689873.1	Q8TAV0	FA76A_HUMAN	family with sequence similarity 76, member A	298										endometrium(4)|kidney(2)|large_intestine(1)|lung(2)	9		Colorectal(325;0.000147)|all_lung(284;0.00181)|Lung NSC(340;0.00278)|Renal(390;0.00357)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00253)|KIRC - Kidney renal clear cell carcinoma(1967;0.00292)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)		AGCAAGAAGTCAGAGAAGTCAG	0.48																																						uc001bor.3																			0				endometrium(4)|kidney(2)|large_intestine(1)|lung(2)	9						c.(994-996)tcafs		Homo sapiens family with sequence similarity 76, member A (FAM76A), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	199870							g.chr1:28087061_28087062delCA	AK098318	CCDS309.1, CCDS44092.1, CCDS44093.1, CCDS44094.1, CCDS44095.1	1p35.3	2008-02-05			ENSG00000009780	ENSG00000009780			28530	protein-coding gene	gene with protein product							Standard	NM_001143912		Approved	MGC34648	uc001bor.3	Q8TAV0	OTTHUMG00000003729	ENST00000373954.6:c.893_894delCA	1.37:g.28087061_28087062delCA	ENSP00000363065:p.Ser298fs		Somatic				FAM76A_uc001boq.3_Frame_Shift_Del_p.S298fs|FAM76A_uc001bos.3_Frame_Shift_Del_p.S303fs|FAM76A_uc001bot.3_Frame_Shift_Del_p.S269fs|FAM76A_uc010ofm.2_Frame_Shift_Del_p.S218fs	p.S332fs	NM_001143912	NP_001137384	WXS	Illumina GAIIx	Phase_I	Q8TAV0	FA76A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00253)|KIRC - Kidney renal clear cell carcinoma(1967;0.00292)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)	9	1097_1098	+		Colorectal(325;0.000147)|all_lung(284;0.00181)|Lung NSC(340;0.00278)|Renal(390;0.00357)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0966)	298					B4DWT3|O95565|O95566|Q8N7J5	Frame_Shift_Del	DEL	ENST00000373954.6	37	c.995_996delCA	CCDS309.1																																																																																				0.480	FAM76A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000010514.3	NM_152660		19	17						19	17	---	---	---	---
