#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
HSPA4	3308	broad.mit.edu	37	5	132400700	132400700	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chr5:132400700C>T	ENST00000304858.2	+	2	425	c.136C>T	c.(136-138)Cgt>Tgt	p.R46C		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	46					chaperone-mediated protein complex assembly (GO:0051131)|protein import into mitochondrial outer membrane (GO:0045040)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCCTAAGAATCGTTCAATTGG	0.343																																					Colon(114;1299 1588 6063 12302 48757)	uc003kyj.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32						c.(136-138)Cgt>Tgt		Homo sapiens heat shock 70kDa protein 4 (HSPA4), mRNA.							182.0	185.0	184.0					5																	132400700		2203	4300	6503	SO:0001583	missense	3308				cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding	g.chr5:132400700C>T	AB023420	CCDS4166.1	5q31.1	2011-09-07	2002-08-29		ENSG00000170606	ENSG00000170606		"""Heat shock proteins / HSP70"""	5237	protein-coding gene	gene with protein product	"""hsp70 RY"""	601113	"""heat shock 70kD protein 4"""			8335910	Standard	NM_002154		Approved	HS24/P52, HSPH2	uc003kyj.3	P34932	OTTHUMG00000129012	ENST00000304858.2:c.136C>T	5.37:g.132400700C>T	ENSP00000302961:p.Arg46Cys						p.R46C	NM_002154	NP_002145	P34932	HSP74_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		1	417	+			46					O95756|Q2TAL4|Q9BUK9	Missense_Mutation	SNP	ENST00000304858.2	37	c.136C>T	CCDS4166.1	.	.	.	.	.	.	.	.	.	.	C	34	5.296215	0.95574	.	.	ENSG00000170606	ENST00000304858;ENST00000321956;ENST00000537974	T	0.01252	5.1	5.69	5.69	0.88448	.	0.059112	0.64402	D	0.000003	T	0.13243	0.0321	H	0.95850	3.73	0.80722	D	1	D	0.65815	0.995	P	0.56823	0.807	T	0.04115	-1.0976	10	0.87932	D	0	-1.4824	19.8209	0.96592	0.0:1.0:0.0:0.0	.	46	P34932	HSP74_HUMAN	C	46	ENSP00000302961:R46C	ENSP00000302961:R46C	R	+	1	0	HSPA4	132428599	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.473000	0.81007	2.688000	0.91661	0.650000	0.86243	CGT		0.343	HSPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251011.1	NM_002154, NM_198431		6	157	0	0	0	1	0	6	157				
DCAKD	79877	broad.mit.edu	37	17	43101857	43101857	+	Missense_Mutation	SNP	C	C	T	rs146466512	byFrequency	TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chr17:43101857C>T	ENST00000452796.2	-	4	895	c.640G>A	c.(640-642)Gct>Act	p.A214T	DCAKD_ENST00000342350.5_Missense_Mutation_p.A214T|DCAKD_ENST00000588499.1_Missense_Mutation_p.A214T			Q8WVC6	DCAKD_HUMAN	dephospho-CoA kinase domain containing	214					coenzyme A biosynthetic process (GO:0015937)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|dephospho-CoA kinase activity (GO:0004140)			cervix(1)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)	6		Prostate(33;0.155)				GCAATGGCAGCGAGCCCTGTG	0.617																																						uc010daa.1																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)	6						c.(640-642)Gct>Act		Homo sapiens dephospho-CoA kinase domain containing (DCAKD), transcript variant 2, mRNA.		C	THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	67.0	60.0	63.0		640,640	3.8	0.5	17	dbSNP_134	63	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense	DCAKD	NM_001128631.1,NM_024819.4	58,58	0,5,6498	TT,TC,CC		0.0465,0.0227,0.0384	benign,benign	214/232,214/232	43101857	5,13001	2203	4300	6503	SO:0001583	missense	79877				coenzyme A biosynthetic process		ATP binding|dephospho-CoA kinase activity	g.chr17:43101857C>T	BC006546	CCDS11493.1	17q21.31	2005-12-20				ENSG00000172992			26238	protein-coding gene	gene with protein product							Standard	XM_005257688		Approved	FLJ22955	uc010daa.1	Q8WVC6		ENST00000452796.2:c.640G>A	17.37:g.43101857C>T	ENSP00000413483:p.Ala214Thr					DCAKD_uc010dab.1_Missense_Mutation_p.A214T|DCAKD_uc002ihx.2_Missense_Mutation_p.A214T	p.A214T	NM_001128631	NP_079095	Q8WVC6	DCAKD_HUMAN			4	812	-		Prostate(33;0.155)	214					A8K3Z0|D3DX60|D3DX62|Q9BR71|Q9H5W1	Missense_Mutation	SNP	ENST00000452796.2	37	c.640G>A	CCDS11493.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.881456	0.33255	2.27E-4	4.65E-4	ENSG00000172992	ENST00000342350;ENST00000452796	T;T	0.45668	0.89;0.89	4.76	3.77	0.43336	.	0.320112	0.38272	N	0.001753	T	0.30759	0.0775	L	0.38838	1.175	0.58432	D	0.999996	B	0.24721	0.11	B	0.13407	0.009	T	0.07731	-1.0757	10	0.21540	T	0.41	-6.0918	13.5037	0.61471	0.0:0.9227:0.0:0.0773	.	214	Q8WVC6	DCAKD_HUMAN	T	214	ENSP00000341504:A214T;ENSP00000413483:A214T	ENSP00000341504:A214T	A	-	1	0	DCAKD	40457383	0.012000	0.17670	0.529000	0.27951	0.836000	0.47400	2.154000	0.42291	2.472000	0.83506	0.542000	0.68232	GCT		0.617	DCAKD-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449066.1	NM_024819		23	77	0	0	0	1	0	23	77				
XPO4	64328	broad.mit.edu	37	13	21374986	21374986	+	Missense_Mutation	SNP	T	T	C			TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chr13:21374986T>C	ENST00000255305.6	-	14	2032	c.1961A>G	c.(1960-1962)gAa>gGa	p.E654G	XPO4_ENST00000400602.2_Missense_Mutation_p.E654G			Q9C0E2	XPO4_HUMAN	exportin 4	654					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		ATACAGTTTTTCATCCACCAG	0.368																																						uc001unq.4																			0				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41						c.(1960-1962)gAa>gGa		Homo sapiens exportin 4 (XPO4), mRNA.							162.0	153.0	156.0					13																	21374986		1823	4083	5906	SO:0001583	missense	64328				protein transport	cytoplasm|nucleus	protein binding	g.chr13:21374986T>C	AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"""Exportins"""	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.1961A>G	13.37:g.21374986T>C	ENSP00000255305:p.Glu654Gly						p.E654G	NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)	13	1997	-		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	654					Q5VUZ5|Q8N3V6|Q9H934	Missense_Mutation	SNP	ENST00000255305.6	37	c.1961A>G	CCDS41872.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.198152	0.79015	.	.	ENSG00000132953	ENST00000400602;ENST00000456108;ENST00000255305	T;T	0.51817	0.69;0.69	5.65	4.48	0.54585	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.62889	0.2465	M	0.72894	2.215	0.80722	D	1	D	0.63880	0.993	D	0.66351	0.943	T	0.60611	-0.7229	10	0.31617	T	0.26	-13.8781	11.405	0.49892	0.0:0.0706:0.0:0.9294	.	654	Q9C0E2	XPO4_HUMAN	G	654;524;654	ENSP00000383444:E654G;ENSP00000255305:E654G	ENSP00000255305:E654G	E	-	2	0	XPO4	20272986	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.608000	0.82898	0.981000	0.38548	0.533000	0.62120	GAA		0.368	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044096.1	NM_022459		21	293	0	0	0	1	0	21	293				
APBA1	320	broad.mit.edu	37	9	72082746	72082746	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chr9:72082746C>T	ENST00000265381.4	-	5	1697	c.1475G>A	c.(1474-1476)aGg>aAg	p.R492K	APBA1_ENST00000470082.1_5'UTR	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	492	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						CACCTTGATCCTGCTTACGGC	0.527																																						uc004ahh.2																			0		p.R492S(2)		endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						c.(1474-1476)aGg>aAg		Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA.							163.0	137.0	146.0					9																	72082746		2203	4300	6503	SO:0001583	missense	320				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		g.chr9:72082746C>T	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.1475G>A	9.37:g.72082746C>T	ENSP00000265381:p.Arg492Lys						p.R492K	NM_001163	NP_001154	Q02410	APBA1_HUMAN			4	1751	-			492			PID.		O14914|O60570|Q5VYR8	Missense_Mutation	SNP	ENST00000265381.4	37	c.1475G>A	CCDS6630.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.261089	0.80246	.	.	ENSG00000107282	ENST00000265381	T	0.56103	0.48	5.87	5.87	0.94306	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.094572	0.64402	D	0.000002	T	0.58177	0.2104	L	0.39633	1.23	0.80722	D	1	P	0.47762	0.9	P	0.49799	0.622	T	0.58808	-0.7571	10	0.66056	D	0.02	-17.4655	20.2707	0.98476	0.0:1.0:0.0:0.0	.	492	Q02410	APBA1_HUMAN	K	492	ENSP00000265381:R492K	ENSP00000265381:R492K	R	-	2	0	APBA1	71272566	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.882000	0.63121	2.792000	0.96026	0.650000	0.86243	AGG		0.527	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163		8	235	0	0	0	1	0	8	235				
KIAA0195	9772	broad.mit.edu	37	17	73489653	73489653	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chr17:73489653A>G	ENST00000314256.7	+	17	2562	c.2168A>G	c.(2167-2169)tAc>tGc	p.Y723C	KIAA0195_ENST00000375248.5_Missense_Mutation_p.Y733C|KIAA0195_ENST00000579208.1_Missense_Mutation_p.Y374C	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	723						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTGACATCTACCCTCTCTCG	0.602																																						uc010wsa.2																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42						c.(2197-2199)tAc>tGc		Homo sapiens KIAA0195 (KIAA0195), mRNA.							107.0	100.0	102.0					17																	73489653		2203	4300	6503	SO:0001583	missense	9772				ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism	g.chr17:73489653A>G		CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.2168A>G	17.37:g.73489653A>G	ENSP00000313885:p.Tyr723Cys					KIAA0195_uc002jnz.4_Missense_Mutation_p.Y723C|KIAA0195_uc010wsb.2_Missense_Mutation_p.Y363C|KIAA0195_uc002job.4_5'Flank	p.Y733C	NM_014738	NP_055553	Q12767	K0195_HUMAN	all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		15	2390	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		723					O75536|Q86XF1	Missense_Mutation	SNP	ENST00000314256.7	37	c.2198A>G	CCDS32732.1	.	.	.	.	.	.	.	.	.	.	A	14.90	2.672762	0.47781	.	.	ENSG00000177728	ENST00000314256;ENST00000375248	D;D	0.82526	-1.62;-1.62	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.85504	0.5712	N	0.25890	0.77	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.87578	0.995;0.998;0.995	D	0.85475	0.1175	10	0.38643	T	0.18	-36.7903	15.576	0.76387	1.0:0.0:0.0:0.0	.	733;733;723	B4DGC6;C9JL75;Q12767	.;.;K0195_HUMAN	C	723;733	ENSP00000313885:Y723C;ENSP00000364397:Y733C	ENSP00000313885:Y723C	Y	+	2	0	KIAA0195	71001248	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.236000	0.95360	2.085000	0.62840	0.459000	0.35465	TAC		0.602	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	NM_014738		44	72	0	0	0	1	0	44	72				
NUP210L	91181	broad.mit.edu	37	1	154101784	154101784	+	Silent	SNP	G	G	A			TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chr1:154101784G>A	ENST00000368559.3	-	8	1118	c.1047C>T	c.(1045-1047)tgC>tgT	p.C349C	NUP210L_ENST00000271854.3_Silent_p.C349C	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	349					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CATATATGGTGCAATTTGGGA	0.368																																						uc001fdw.3																			0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80						c.(1045-1047)tgC>tgT		Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.							144.0	135.0	138.0					1																	154101784		1858	4103	5961	SO:0001819	synonymous_variant	91181					integral to membrane		g.chr1:154101784G>A	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.1047C>T	1.37:g.154101784G>A						NUP210L_uc009woq.3_5'UTR|NUP210L_uc010peh.2_Silent_p.C349C	p.C349C	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		7	1119	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		349					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Silent	SNP	ENST00000368559.3	37	c.1047C>T	CCDS41399.1																																																																																				0.368	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		11	135	0	0	0	1	0	11	135				
SASH1	23328	broad.mit.edu	37	6	148840738	148840738	+	Silent	SNP	C	C	G			TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chr6:148840738C>G	ENST00000367467.3	+	10	1393	c.918C>G	c.(916-918)ctC>ctG	p.L306L		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	306					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GGTCCGCCCTCTACTCTGGCG	0.542																																						uc003qme.1																			0				breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(916-918)ctC>ctG		Homo sapiens SAM and SH3 domain containing 1 (SASH1), mRNA.							80.0	82.0	81.0					6																	148840738		2203	4300	6503	SO:0001819	synonymous_variant	23328						protein binding	g.chr6:148840738C>G	AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.918C>G	6.37:g.148840738C>G						SASH1_uc011eeb.1_Silent_p.L67L	p.L306L	NM_015278	NP_056093	O94885	SASH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)	9	1393	+		Ovarian(120;0.0169)	306					Q5TGN5|Q8TAI0|Q9H7R7	Silent	SNP	ENST00000367467.3	37	c.918C>G	CCDS5212.1																																																																																				0.542	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278		39	43	0	0	0	1	0	39	43				
MED12L	116931	broad.mit.edu	37	3	151129080	151129080	+	Silent	SNP	C	C	T			TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chr3:151129080C>T	ENST00000474524.1	+	39	5858	c.5820C>T	c.(5818-5820)ggC>ggT	p.G1940G	MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1940	Gln-rich.					mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGCCACAGGGCTATACAATGT	0.502																																						uc003eyp.3																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(5818-5820)ggC>ggT		Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.							77.0	69.0	72.0					3																	151129080		2203	4300	6503	SO:0001819	synonymous_variant	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151129080C>T	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.5820C>T	3.37:g.151129080C>T						MED12L_uc011bnz.2_Intron	p.G1940G	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		38	5949	+			1940			Gln-rich.		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Silent	SNP	ENST00000474524.1	37	c.5820C>T	CCDS33876.1																																																																																				0.502	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		39	77	0	0	0	1	0	39	77				
GPR113	165082	broad.mit.edu	37	2	26536378	26536378	+	Missense_Mutation	SNP	T	T	G			TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chr2:26536378T>G	ENST00000311519.1	-	9	1339	c.1340A>C	c.(1339-1341)cAc>cCc	p.H447P	GPR113_ENST00000421160.2_Missense_Mutation_p.H378P|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000333478.6_Missense_Mutation_p.H248P|GPR113_ENST00000541401.1_Missense_Mutation_p.H50P	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	447					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGTGCCACGTGGCCAGCCTT	0.612																																						uc002rhe.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(1339-1341)cAc>cCc		Homo sapiens G protein-coupled receptor 113 (GPR113), transcript variant 1, mRNA.							44.0	40.0	41.0					2																	26536378		2203	4300	6503	SO:0001583	missense	165082				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:26536378T>G	AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"""-"", ""GPCR / Class B : Orphans"""	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000311519.1:c.1340A>C	2.37:g.26536378T>G	ENSP00000307831:p.His447Pro					GPR113_uc010yky.1_Missense_Mutation_p.H378P|GPR113_uc002rhb.1_Missense_Mutation_p.H50P|GPR113_uc010eyk.1_Missense_Mutation_p.H248P|GPR113_uc002rhc.1_Missense_Mutation_p.H50P|GPR113_uc002rhd.1_Non-coding_Transcript	p.H447P	NM_001145168	NP_001138640	Q8IZF5	GP113_HUMAN			8	1340	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		447					B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Missense_Mutation	SNP	ENST00000311519.1	37	c.1340A>C	CCDS46239.1	.	.	.	.	.	.	.	.	.	.	T	11.77	1.738121	0.30774	.	.	ENSG00000173567	ENST00000541401;ENST00000333478;ENST00000421160;ENST00000311519	T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01	5.84	3.35	0.38373	GPCR, family 2, extracellular hormone receptor domain (2);	.	.	.	.	T	0.60560	0.2278	M	0.67953	2.075	0.19775	N	0.999955	B;P;B;P	0.48911	0.014;0.917;0.157;0.816	B;B;B;B	0.43508	0.017;0.388;0.105;0.422	T	0.50541	-0.8816	9	0.44086	T	0.13	-3.6669	9.4221	0.38557	0.2929:0.0:0.0:0.7071	.	378;248;447;50	E9PEV1;Q8IZF5-2;Q8IZF5;F5H1E4	.;.;GP113_HUMAN;.	P	50;248;378;447	ENSP00000445729:H50P;ENSP00000327396:H248P;ENSP00000388537:H378P;ENSP00000307831:H447P	ENSP00000307831:H447P	H	-	2	0	GPR113	26389882	0.054000	0.20591	0.379000	0.26080	0.948000	0.59901	0.160000	0.16462	0.410000	0.25675	0.459000	0.35465	CAC		0.612	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316892.1	NM_153835		9	23	0	0	0	1	0	9	23				
B3GALTL	145173	broad.mit.edu	37	13	31848757	31848757	+	Missense_Mutation	SNP	C	C	A			TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chr13:31848757C>A	ENST00000343307.4	+	9	921	c.772C>A	c.(772-774)Ccg>Acg	p.P258T	B3GALTL_ENST00000461652.2_3'UTR	NM_194318.3	NP_919299.3	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	258					fucose metabolic process (GO:0006004)|protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		TTCTTTTCTACCGCTTTGTGT	0.413																																						uc010aaz.3																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(772-774)Ccg>Acg		Homo sapiens beta 1,3-galactosyltransferase-like (B3GALTL), mRNA.							139.0	126.0	130.0					13																	31848757		2203	4300	6503	SO:0001583	missense	145173				fucose metabolic process	endoplasmic reticulum membrane|integral to membrane	transferase activity, transferring glycosyl groups	g.chr13:31848757C>A	AB101481	CCDS9341.1	13q12.3	2014-03-24			ENSG00000187676	ENSG00000187676		"""Beta 3-glycosyltransferases"""	20207	protein-coding gene	gene with protein product		610308				12943678, 16899492, 17032646	Standard	NM_194318		Approved	B3GTL, B3Glc-T	uc010aaz.3	Q6Y288	OTTHUMG00000016688	ENST00000343307.4:c.772C>A	13.37:g.31848757C>A	ENSP00000343002:p.Pro258Thr					B3GALTL_uc001utn.4_Non-coding_Transcript	p.P258T	NM_194318	NP_919299	Q6Y288	B3GLT_HUMAN		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)	8	882	+		Lung SC(185;0.0257)	258					A8K5F8|Q5W0H2|Q6NUI3	Missense_Mutation	SNP	ENST00000343307.4	37	c.772C>A	CCDS9341.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.677723	0.47886	.	.	ENSG00000187676	ENST00000343307	T	0.73047	-0.71	5.62	5.62	0.85841	.	0.111142	0.64402	D	0.000008	T	0.79787	0.4506	M	0.73598	2.24	0.80722	D	1	D	0.65815	0.995	P	0.54664	0.758	T	0.79198	-0.1902	10	0.38643	T	0.18	-14.6557	16.5692	0.84607	0.0:1.0:0.0:0.0	.	258	Q6Y288	B3GLT_HUMAN	T	258	ENSP00000343002:P258T	ENSP00000343002:P258T	P	+	1	0	B3GALTL	30746757	0.952000	0.32445	0.160000	0.22671	0.323000	0.28346	4.362000	0.59467	2.635000	0.89317	0.655000	0.94253	CCG		0.413	B3GALTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044396.3	NM_194318		5	131	0	0	0	1	0	5	131				
KMT2E	55904	broad.mit.edu	37	7	104715089	104715089	+	Splice_Site	SNP	G	G	T			TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chr7:104715089G>T	ENST00000311117.3	+	8	1101		c.e8-1		KMT2E_ENST00000334914.7_Splice_Site|KMT2E_ENST00000334877.4_Splice_Site|KMT2E_ENST00000476671.1_Splice_Site|KMT2E_ENST00000257745.4_Splice_Site	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E						cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										TTTGTCTGAAGATGGTGATAC	0.333																																						uc003vcm.3																			0				NS(1)|breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(13)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	63						c.e8-1		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila) (MLL5), transcript variant 1, mRNA.							128.0	121.0	124.0					7																	104715089		2203	4300	6503	SO:0001630	splice_region_variant	55904				DNA methylation|cell cycle arrest|cellular response to retinoic acid|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding	g.chr7:104715089G>T	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.557-1G>T	7.37:g.104715089G>T						MLL5_uc010lja.1_Splice_Site_p.D40_splice|MLL5_uc010ljb.1_Splice_Site_p.D186_splice|MLL5_uc003vcl.3_Splice_Site_p.D186_splice|MLL5_uc010ljc.3_Splice_Site_p.D186_splice|MLL5_uc003vco.1_5'Flank|MLL5_uc010ljd.1_5'Flank	p.D186_splice	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN			8	1091	+			186					B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Splice_Site	SNP	ENST00000311117.3	37	c.557_splice	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.127440	0.77549	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745;ENST00000478990;ENST00000495267;ENST00000476671;ENST00000537308	.	.	.	5.44	4.56	0.56223	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0214	0.64558	0.0727:0.0:0.9273:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MLL5	104502325	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.428000	0.97476	1.301000	0.44836	0.591000	0.81541	.		0.333	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1		Intron	66	130	0	0	0	1	0	66	130				
KLHL4	56062	broad.mit.edu	37	X	86919891	86919891	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chrX:86919891A>G	ENST00000373119.4	+	10	2198	c.2053A>G	c.(2053-2055)Aac>Gac	p.N685D	KLHL4_ENST00000373114.4_Missense_Mutation_p.N685D	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	685						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TACTTATTTGAACACAGTTGA	0.378																																						uc004efa.2																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						c.(2053-2055)Aac>Gac		Homo sapiens kelch-like 4 (Drosophila) (KLHL4), transcript variant 2, mRNA.							157.0	109.0	125.0					X																	86919891		2203	4300	6503	SO:0001583	missense	56062					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	g.chrX:86919891A>G	AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.2053A>G	X.37:g.86919891A>G	ENSP00000362211:p.Asn685Asp					KLHL4_uc004efb.2_Missense_Mutation_p.N685D	p.N685D	NM_057162	NP_476503	Q9C0H6	KLHL4_HUMAN			9	2235	+			685					B2RTW2|Q9Y3J5	Missense_Mutation	SNP	ENST00000373119.4	37	c.2053A>G	CCDS14457.1	.	.	.	.	.	.	.	.	.	.	A	14.08	2.428629	0.43122	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	T;T	0.79554	-1.28;-1.28	3.95	3.95	0.45737	Galactose oxidase, beta-propeller (1);	0.344414	0.35525	N	0.003143	T	0.66127	0.2758	N	0.25094	0.71	0.35606	D	0.808276	B;B	0.20164	0.012;0.042	B;B	0.26770	0.073;0.03	T	0.64850	-0.6310	10	0.29301	T	0.29	.	6.8404	0.23959	0.884:0.0:0.116:0.0	.	685;685	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	D	685	ENSP00000362211:N685D;ENSP00000362206:N685D	ENSP00000362206:N685D	N	+	1	0	KLHL4	86806547	1.000000	0.71417	0.809000	0.32408	0.858000	0.48976	4.881000	0.63114	1.559000	0.49555	0.339000	0.21740	AAC		0.378	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1			36	42	0	0	0	1	0	36	42				
FBN2	2201	broad.mit.edu	37	5	127674746	127674746	+	Silent	SNP	G	G	A	rs78484531	byFrequency	TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chr5:127674746G>A	ENST00000508053.1	-	32	4325	c.3351C>T	c.(3349-3351)gaC>gaT	p.D1117D	FBN2_ENST00000262464.4_Silent_p.D1117D|FBN2_ENST00000508989.1_Silent_p.D1084D|FBN2_ENST00000507835.1_De_novo_Start_OutOfFrame			P35556	FBN2_HUMAN	fibrillin 2	1117	EGF-like 16; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TCCTGCACTCGTCGATGTCTA	0.458													G|||	2	0.000399361	0.0015	0.0	5008	,	,		20198	0.0		0.0	False		,,,				2504	0.0					uc003kuu.3																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(3349-3351)gaC>gaT		Homo sapiens fibrillin 2 (FBN2), mRNA.		G		20,4386	27.2+/-55.0	0,20,2183	76.0	69.0	71.0		3351	-0.4	1.0	5	dbSNP_132	71	0,8600		0,0,4300	no	coding-synonymous	FBN2	NM_001999.3		0,20,6483	AA,AG,GG		0.0,0.4539,0.1538		1117/2913	127674746	20,12986	2203	4300	6503	SO:0001819	synonymous_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127674746G>A	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.3351C>T	5.37:g.127674746G>A						FBN2_uc003kuv.2_Silent_p.D1084D	p.D1117D	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	25	3790	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1117			EGF-like 16; calcium-binding.		B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	37	c.3351C>T	CCDS34222.1																																																																																				0.458	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		45	88	0	0	0	1	0	45	88				
B4GALNT2	124872	broad.mit.edu	37	17	47247083	47247083	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chr17:47247083C>T	ENST00000300404.2	+	11	1753	c.1694C>T	c.(1693-1695)gCc>gTc	p.A565V	B4GALNT2_ENST00000504681.1_Missense_Mutation_p.A479V|B4GALNT2_ENST00000393354.2_Missense_Mutation_p.A505V|RP11-708H21.4_ENST00000575159.1_lincRNA	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	565					lipid glycosylation (GO:0030259)|negative regulation of cell-cell adhesion (GO:0022408)|protein glycosylation (GO:0006486)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			CTCCAATGTGCCGCATAAAGG	0.512																																					GBM(124;244 1635 8663 18097 33175)	uc002ion.2																			0				endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(1693-1695)gCc>gTc		Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 2 (B4GALNT2), transcript variant 1, mRNA.							64.0	52.0	56.0					17																	47247083		2203	4300	6503	SO:0001583	missense	124872				UDP-N-acetylgalactosamine metabolic process|lipid glycosylation|negative regulation of cell-cell adhesion	integral to Golgi membrane	acetylgalactosaminyltransferase activity	g.chr17:47247083C>T	AJ517770	CCDS11544.1, CCDS54139.1, CCDS54140.1	17q21.33	2013-02-22	2006-01-08	2006-01-08	ENSG00000167080	ENSG00000167080	2.4.1.-	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	24136	protein-coding gene	gene with protein product		111730	"""UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase"""	GALGT2		8782649, 12678917	Standard	NM_153446		Approved	Sda, Cad	uc002ion.2	Q8NHY0	OTTHUMG00000161307	ENST00000300404.2:c.1694C>T	17.37:g.47247083C>T	ENSP00000300404:p.Ala565Val					B4GALNT2_uc010wlt.1_Missense_Mutation_p.A479V|B4GALNT2_uc010wlu.1_Missense_Mutation_p.A505V	p.A565V	NM_153446	NP_001152860	Q8NHY0	B4GN2_HUMAN	all cancers(6;0.000316)		10	1753	+			565					B4DZE4|Q14CP1|Q86Y40	Missense_Mutation	SNP	ENST00000300404.2	37	c.1694C>T	CCDS11544.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.166068	0.38217	.	.	ENSG00000167080	ENST00000504681;ENST00000393354;ENST00000300404	T;T;T	0.21191	2.02;2.02;2.32	5.79	-0.177	0.13307	.	1.098330	0.06882	N	0.802683	T	0.08268	0.0206	N	0.08118	0	0.09310	N	1	B;B	0.23442	0.082;0.085	B;B	0.21917	0.037;0.016	T	0.37407	-0.9707	10	0.17832	T	0.49	-1.9854	0.7377	0.00968	0.1723:0.3494:0.1469:0.3313	.	505;565	Q8NHY0-2;Q8NHY0	.;B4GN2_HUMAN	V	479;505;565	ENSP00000425510:A479V;ENSP00000377022:A505V;ENSP00000300404:A565V	ENSP00000300404:A565V	A	+	2	0	B4GALNT2	44602082	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.708000	0.25719	0.351000	0.24027	0.561000	0.74099	GCC		0.512	B4GALNT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364477.1	NM_153446		4	56	0	0	0	1	0	4	56				
PRKG1	5592	broad.mit.edu	37	10	54011361	54011361	+	Missense_Mutation	SNP	C	C	G			TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chr10:54011361C>G	ENST00000401604.2	+	10	1257	c.1063C>G	c.(1063-1065)Ctg>Gtg	p.L355V	PRKG1-AS1_ENST00000426785.2_RNA|PRKG1-AS1_ENST00000452247.2_RNA|PRKG1_ENST00000373980.4_Missense_Mutation_p.L370V|PRKG1_ENST00000373985.1_Missense_Mutation_p.L343V|PRKG1_ENST00000373975.2_Missense_Mutation_p.L73V			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	355					actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|dendrite development (GO:0016358)|forebrain development (GO:0030900)|negative regulation of platelet aggregation (GO:0090331)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|regulation of GTPase activity (GO:0043087)|relaxation of vascular smooth muscle (GO:0060087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		CTTCGCCAACCTGAAGCTGTC	0.413																																						uc001jjo.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53						c.(1108-1110)Ctg>Gtg		Homo sapiens protein kinase, cGMP-dependent, type I (PRKG1), transcript variant 2, mRNA.							156.0	143.0	147.0					10																	54011361		2203	4300	6503	SO:0001583	missense	5592				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	g.chr10:54011361C>G		CCDS7244.1	10q11.2	2009-07-10			ENSG00000185532	ENSG00000185532	2.7.11.1		9414	protein-coding gene	gene with protein product		176894		PRKGR1B, PRKG1B		2792381, 1544322	Standard	NM_001098512		Approved	PGK, PKG	uc001jjo.3	Q13976	OTTHUMG00000018248	ENST00000401604.2:c.1063C>G	10.37:g.54011361C>G	ENSP00000384200:p.Leu355Val					PRKG1_uc001jjm.3_Missense_Mutation_p.L355V|PRKG1_uc009xow.2_Missense_Mutation_p.L73V	p.L370V	NM_006258	NP_006249	Q13976	KGP1_HUMAN		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)	9	1225	+		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)	355			Protein kinase.		A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	Missense_Mutation	SNP	ENST00000401604.2	37	c.1108C>G	CCDS44399.1	.	.	.	.	.	.	.	.	.	.	C	6.621	0.482996	0.12581	.	.	ENSG00000185532	ENST00000401604;ENST00000373985;ENST00000373980;ENST00000332193	T;T;T	0.08102	3.13;3.13;3.13	6.14	4.09	0.47781	Protein kinase-like domain (1);	0.000000	0.64402	D	0.000001	T	0.03739	0.0106	N	0.08118	0	0.58432	D	0.999996	B;B;B	0.25441	0.009;0.005;0.126	B;B;B	0.21917	0.008;0.033;0.037	T	0.30179	-0.9987	10	0.05721	T	0.95	-9.4954	11.0403	0.47827	0.0:0.8293:0.0:0.1707	.	73;370;355	B3KSF3;Q13976-2;Q13976	.;.;KGP1_HUMAN	V	355;343;370;73	ENSP00000384200:L355V;ENSP00000363097:L343V;ENSP00000363092:L370V	ENSP00000327642:L73V	L	+	1	2	PRKG1	53681367	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.638000	0.54332	0.741000	0.32674	0.637000	0.83480	CTG		0.413	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				27	90	0	0	0	1	0	27	90				
SLC25A45	283130	broad.mit.edu	37	11	65147382	65147382	+	Missense_Mutation	SNP	G	G	A	rs377005228		TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chr11:65147382G>A	ENST00000527174.1	-	3	164	c.109C>T	c.(109-111)Cgg>Tgg	p.R37W	SLC25A45_ENST00000398802.1_Missense_Mutation_p.R37W|SLC25A45_ENST00000377152.2_5'UTR|SLC25A45_ENST00000526432.1_Missense_Mutation_p.R37W|SLC25A45_ENST00000534028.1_Intron|SLC25A45_ENST00000294187.6_5'UTR|SLC25A45_ENST00000360662.3_Intron|SLC25A45_ENST00000417511.2_5'UTR			Q8N413	S2545_HUMAN	solute carrier family 25, member 45	37					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						ACGATGCCCCGGTAGGTGGTC	0.627																																						uc001odr.1																			0				endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						c.(109-111)Cgg>Tgg		Homo sapiens solute carrier family 25, member 45 (SLC25A45), transcript variant 1, mRNA.		G	,TRP/ARG	0,4102		0,0,2051	61.0	68.0	66.0		,109	4.4	1.0	11		66	3,8393		0,3,4195	no	utr-5,missense	SLC25A45	NM_001077241.1,NM_182556.2	,101	0,3,6246	AA,AG,GG		0.0357,0.0,0.024	,probably-damaging	,37/289	65147382	3,12495	2051	4198	6249	SO:0001583	missense	283130				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr11:65147382G>A	BC041100	CCDS41670.1, CCDS41671.1, CCDS60850.1	11q13.1	2013-05-22			ENSG00000162241	ENSG00000162241		"""Solute carriers"""	27442	protein-coding gene	gene with protein product		610825				16949250	Standard	XM_006718507		Approved		uc001odr.1	Q8N413	OTTHUMG00000166255	ENST00000527174.1:c.109C>T	11.37:g.65147382G>A	ENSP00000435489:p.Arg37Trp					SLC25A45_uc009yqi.1_Missense_Mutation_p.R37W|SLC25A45_uc001odq.1_Intron|SLC25A45_uc001ods.1_5'UTR|SLC25A45_uc001odt.1_5'UTR	p.R37W	NM_182556	NP_001070709	Q8N413	S2545_HUMAN			3	313	-			37					Q6PL49|Q8IW29	Missense_Mutation	SNP	ENST00000527174.1	37	c.109C>T	CCDS41670.1	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896045	0.72639	0.0	3.57E-4	ENSG00000162241	ENST00000527174;ENST00000398802;ENST00000526432;ENST00000530936	T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32	4.38	4.38	0.52667	Mitochondrial carrier domain (2);	.	.	.	.	D	0.88687	0.6504	M	0.89904	3.07	0.80722	D	1	D;D	0.67145	0.996;0.995	P;P	0.55303	0.761;0.773	D	0.91161	0.4961	9	0.66056	D	0.02	.	14.4776	0.67557	0.0:0.0:1.0:0.0	.	37;37	E9PJQ3;Q8N413	.;S2545_HUMAN	W	37	ENSP00000435489:R37W;ENSP00000381782:R37W;ENSP00000435547:R37W;ENSP00000431642:R37W	ENSP00000381782:R37W	R	-	1	2	SLC25A45	64903958	1.000000	0.71417	1.000000	0.80357	0.734000	0.41952	5.116000	0.64661	2.251000	0.74343	0.561000	0.74099	CGG		0.627	SLC25A45-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388744.3	NM_182556		24	58	0	0	0	1	0	24	58				
