#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
CEP128	145508	broad.mit.edu	37	14	81371163	81371163	+	Missense_Mutation	SNP	C	C	A			TCGA-FY-A3NP-01A-11D-A21A-08	TCGA-FY-A3NP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d117c65a-9493-4628-9eb0-1450fed1fb4f	7e10e1f6-d078-4e0b-aa0a-4be138ac0a3a	g.chr14:81371163C>A	ENST00000555265.1	-	6	849	c.474G>T	c.(472-474)atG>atT	p.M158I	CEP128_ENST00000327841.2_Missense_Mutation_p.M98I|CEP128_ENST00000281129.3_Missense_Mutation_p.M158I|CEP128_ENST00000216517.6_Missense_Mutation_p.M158I			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	158						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						GTACCTGAGTCATATCATCAG	0.378																																						uc001xux.2																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(472-474)atG>atT		Homo sapiens centrosomal protein 128kDa (CEP128), mRNA.							155.0	139.0	144.0					14																	81371163		2203	4300	6503	SO:0001583	missense	145508					centriole|spindle pole		g.chr14:81371163C>A	AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 61"", ""chromosome 14 open reading frame 145"""	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.474G>T	14.37:g.81371163C>A	ENSP00000451162:p.Met158Ile					CEP128_uc001xuz.2_Missense_Mutation_p.M158I|CEP128_uc001xva.1_Missense_Mutation_p.M158I|CEP128_uc001xuy.1_Missense_Mutation_p.M16I	p.M158I	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN			4	645	-			158					B9EK52|Q86X97|Q96ML4	Missense_Mutation	SNP	ENST00000555265.1	37	c.474G>T	CCDS32130.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.992|1.992	-0.431440|-0.431440	0.04669|0.04669	.|.	.|.	ENSG00000100629|ENSG00000100629	ENST00000281129;ENST00000555265;ENST00000393619;ENST00000216517;ENST00000327841;ENST00000555529|ENST00000554827	T;T;T;T|.	0.44482|.	1.52;1.52;0.92;0.94|.	5.82|5.82	3.9|3.9	0.45041|0.45041	.|.	0.903130|.	0.09675|.	N|.	0.770642|.	T|.	0.20007|.	0.0481|.	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	B;B;B|.	0.10296|.	0.003;0.002;0.002|.	B;B;B|.	0.11329|.	0.006;0.006;0.002|.	T|.	0.15093|.	-1.0449|.	10|.	0.37606|.	T|.	0.19|.	.|.	4.7905|4.7905	0.13247|0.13247	0.1729:0.6549:0.0:0.1721|0.1729:0.6549:0.0:0.1721	.|.	158;39;158|.	Q6ZU80-3;Q8N3Z7;Q6ZU80|.	.;.;CE128_HUMAN|.	I|L	158;158;158;158;98;158|37	ENSP00000281129:M158I;ENSP00000451162:M158I;ENSP00000216517:M158I;ENSP00000451137:M158I|.	ENSP00000216517:M158I|.	M|X	-|-	3|2	0|2	CEP128|CEP128	80440916|80440916	0.000000|0.000000	0.05858|0.05858	0.909000|0.909000	0.35828|0.35828	0.009000|0.009000	0.06853|0.06853	0.448000|0.448000	0.21726|0.21726	1.469000|1.469000	0.48083|0.48083	0.585000|0.585000	0.79938|0.79938	ATG|TGA		0.378	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413415.1	NM_152446		3	50	0	0	0	1	0	3	50				
REEP6	92840	broad.mit.edu	37	19	1490315	1490315	+	5'Flank	SNP	G	G	A			TCGA-FY-A3NP-01A-11D-A21A-08	TCGA-FY-A3NP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d117c65a-9493-4628-9eb0-1450fed1fb4f	7e10e1f6-d078-4e0b-aa0a-4be138ac0a3a	g.chr19:1490315G>A	ENST00000233596.3	+	0	0				PCSK4_ENST00000587784.1_Intron|PCSK4_ENST00000300954.5_Missense_Mutation_p.R11C	NM_138393.1	NP_612402.1	Q96HR9	REEP6_HUMAN	receptor accessory protein 6						regulation of intracellular transport (GO:0032386)	apical part of cell (GO:0045177)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				lung(1)|ovary(1)	2		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGACCAGGCGCAGCCACAGC	0.751																																						uc002ltb.1																			0				cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15						c.(31-33)Cgc>Tgc		Homo sapiens proprotein convertase subtilisin/kexin type 4 (PCSK4), mRNA.							3.0	4.0	4.0					19																	1490315		1925	3864	5789	SO:0001631	upstream_gene_variant	54760				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr19:1490315G>A	BC008201	CCDS12070.1	19p13.3	2012-12-20	2006-02-08	2006-02-07	ENSG00000115255	ENSG00000115255		"""Receptor accessory proteins"""	30078	protein-coding gene	gene with protein product	"""polyposis locus protein 1-like 1"", ""deleted in polyposis 1-like 1"""	609346	"""chromosome 19 open reading frame 32"""	C19orf32		16271481, 15550249	Standard	NM_138393		Approved	DP1L1, FLJ25383	uc002ltc.3	Q96HR9	OTTHUMG00000180072		19.37:g.1490315G>A	Exception_encountered					PCSK4_uc002lta.2_5'UTR|REEP6_uc010xgp.2_5'Flank|REEP6_uc002ltc.3_5'Flank	p.R11C	NM_017573	NP_060043	Q6UW60	PCSK4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	0	93	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	11					B2RE01|D6W5Z0|Q96LM0	Missense_Mutation	SNP	ENST00000233596.3	37	c.31C>T	CCDS12070.1	.	.	.	.	.	.	.	.	.	.	G	4.944	0.175321	0.09391	.	.	ENSG00000115257	ENST00000300954	T	0.70045	-0.45	3.24	-2.0	0.07433	.	1.575150	0.04284	N	0.344455	T	0.49115	0.1538	L	0.53249	1.67	0.09310	N	1	P	0.49559	0.925	B	0.32211	0.142	T	0.49934	-0.8886	10	0.39692	T	0.17	.	0.945	0.01363	0.2332:0.1605:0.3988:0.2075	.	11	Q6UW60	PCSK4_HUMAN	C	11	ENSP00000300954:R11C	ENSP00000300954:R11C	R	-	1	0	PCSK4	1441315	0.017000	0.18338	0.027000	0.17364	0.062000	0.15995	-0.232000	0.09055	-0.173000	0.10761	0.313000	0.20887	CGC		0.751	REEP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449623.1	NM_138393		2	1	0	0	0	1	0	2	1				
CLTCL1	8218	broad.mit.edu	37	22	19183842	19183842	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3NP-01A-11D-A21A-08	TCGA-FY-A3NP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d117c65a-9493-4628-9eb0-1450fed1fb4f	7e10e1f6-d078-4e0b-aa0a-4be138ac0a3a	g.chr22:19183842G>A	ENST00000263200.10	-	26	4198	c.4126C>T	c.(4126-4128)Ctc>Ttc	p.L1376F	CLTCL1_ENST00000353891.5_Missense_Mutation_p.L1376F|CLTCL1_ENST00000442042.2_5'UTR|CLTCL1_ENST00000427926.1_Missense_Mutation_p.L1376F	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1376	Heavy chain arm.|Involved in binding clathrin light chain. {ECO:0000250}.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					ATCATGGTGAGCACAGCATTG	0.567			T	?	ALCL																																	uc021wle.1				Dom	yes		22	22q11.21	8218	T	"""clathrin, heavy polypeptide-like 1"""			L	?		ALCL		0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(4126-4128)Ctc>Ttc		Homo sapiens clathrin, heavy chain-like 1 (CLTCL1), transcript variant 1, mRNA.							95.0	97.0	96.0					22																	19183842		2142	4251	6393	SO:0001583	missense	8218				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	g.chr22:19183842G>A		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.4126C>T	22.37:g.19183842G>A	ENSP00000445677:p.Leu1376Phe					CLTCL1_uc021wld.1_3'UTR|CLTCL1_uc021wlc.1_3'UTR|CLTCL1_uc021wlf.1_Missense_Mutation_p.L1376F|CLTCL1_uc011agw.1_Missense_Mutation_p.L1355F|CLTCL1_uc011agt.2_Missense_Mutation_p.L167F|CLTCL1_uc011agu.2_Missense_Mutation_p.L167F|CLTCL1_uc010grm.1_Missense_Mutation_p.L136F|CLTCL1_uc002zpd.1_Missense_Mutation_p.L283F|CLTCL1_uc002zpe.2_3'UTR	p.L1376F	NM_007098	NP_009029	P53675	CLH2_HUMAN			25	4201	-	Colorectal(54;0.0993)		1376			Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment.		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	c.4126C>T	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	G	9.763	1.170579	0.21621	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.20200	2.09;2.09;2.09	3.57	-3.55	0.04639	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.346876	0.25219	N	0.032256	T	0.32763	0.0840	M	0.89353	3.025	0.29067	N	0.883553	P;P;P;P	0.49447	0.682;0.915;0.924;0.728	P;P;P;P	0.55161	0.459;0.77;0.694;0.493	T	0.22695	-1.0209	10	0.62326	D	0.03	-6.0824	1.5211	0.02516	0.1931:0.1099:0.2085:0.4885	.	1376;199;199;1376	P53675-2;B7Z1Z7;B7Z2Y4;P53675	.;.;.;CLH2_HUMAN	F	1376	ENSP00000439662:L1376F;ENSP00000445677:L1376F;ENSP00000441158:L1376F	ENSP00000445677:L1376F	L	-	1	0	CLTCL1	17563842	1.000000	0.71417	0.024000	0.17045	0.036000	0.12997	1.458000	0.35223	-0.104000	0.12154	-0.332000	0.08345	CTC		0.567	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		3	46	0	0	0	1	0	3	46				
LETM1	3954	broad.mit.edu	37	4	1843468	1843468	+	Missense_Mutation	SNP	C	C	A			TCGA-FY-A3NP-01A-11D-A21A-08	TCGA-FY-A3NP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d117c65a-9493-4628-9eb0-1450fed1fb4f	7e10e1f6-d078-4e0b-aa0a-4be138ac0a3a	g.chr4:1843468C>A	ENST00000302787.2	-	3	496	c.200G>T	c.(199-201)gGc>gTc	p.G67V		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	67					cristae formation (GO:0042407)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			GAGGTGATCGCCTCTGGAGGA	0.552																																						uc003gdv.3																			0				breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(199-201)gGc>gTc		Homo sapiens leucine zipper-EF-hand containing transmembrane protein 1 (LETM1), nuclear gene encoding mitochondrial protein, mRNA.							54.0	55.0	55.0					4																	1843468		2203	4300	6503	SO:0001583	missense	3954				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding	g.chr4:1843468C>A	AF061025	CCDS3355.1	4p16.3	2013-01-10			ENSG00000168924	ENSG00000168924		"""EF-hand domain containing"""	6556	protein-coding gene	gene with protein product	"""Mdm38 homolog (yeast)"""	604407				10486213	Standard	NM_012318		Approved		uc003gdv.3	O95202	OTTHUMG00000121149	ENST00000302787.2:c.200G>T	4.37:g.1843468C>A	ENSP00000305653:p.Gly67Val					LETM1_uc010icc.3_5'Flank|LETM1_uc011bvg.2_Missense_Mutation_p.G67V	p.G67V	NM_012318	NP_036450	O95202	LETM1_HUMAN	all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)		2	497	-			67					B4DED2|Q9UF65	Missense_Mutation	SNP	ENST00000302787.2	37	c.200G>T	CCDS3355.1	.	.	.	.	.	.	.	.	.	.	C	10.15	1.269859	0.23221	.	.	ENSG00000168924	ENST00000302787;ENST00000417150	.	.	.	4.3	-0.546	0.11840	.	1.583540	0.02965	N	0.143641	T	0.24547	0.0595	L	0.36672	1.1	0.09310	N	0.999999	P;B	0.34724	0.465;0.335	B;B	0.31101	0.124;0.058	T	0.08066	-1.0740	9	0.12430	T	0.62	-1.353	5.3765	0.16168	0.0:0.3268:0.2717:0.4015	.	67;67	O95202-3;O95202	.;LETM1_HUMAN	V	67;27	.	ENSP00000305653:G67V	G	-	2	0	LETM1	1813266	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.517000	0.06275	-0.393000	0.07739	0.563000	0.77884	GGC		0.552	LETM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241634.1			7	26	0	0	0	1	0	7	26				
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290	byFrequency	TCGA-FY-A3NP-01A-11D-A21A-08	TCGA-FY-A3NP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d117c65a-9493-4628-9eb0-1450fed1fb4f	7e10e1f6-d078-4e0b-aa0a-4be138ac0a3a	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												uc009wgu.3	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"""L, E"""			"""melanoma, MM, AML, thyroid"""		1016	Substitution - Missense(1016)	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.							180.0	156.0	164.0					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.Q61R	NM_002524	NP_002515	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	436	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		39	71	0	0	0	1	0	39	71				
PLXNC1	10154	broad.mit.edu	37	12	94641772	94641772	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3NP-01A-11D-A21A-08	TCGA-FY-A3NP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d117c65a-9493-4628-9eb0-1450fed1fb4f	7e10e1f6-d078-4e0b-aa0a-4be138ac0a3a	g.chr12:94641772G>A	ENST00000258526.4	+	13	2731	c.2482G>A	c.(2482-2484)Gta>Ata	p.V828I		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	828					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GAAGCTGAGAGTACAAGACAC	0.507																																						uc001tdc.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(2482-2484)Gta>Ata		Homo sapiens plexin C1 (PLXNC1), transcript variant 1, mRNA.							109.0	103.0	105.0					12																	94641772		2203	4300	6503	SO:0001583	missense	10154				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	g.chr12:94641772G>A	AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.2482G>A	12.37:g.94641772G>A	ENSP00000258526:p.Val828Ile						p.V828I	NM_005761	NP_005752	O60486	PLXC1_HUMAN			12	2731	+			828					Q59H25	Missense_Mutation	SNP	ENST00000258526.4	37	c.2482G>A	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.441245	0.63067	.	.	ENSG00000136040	ENST00000258526	T	0.08282	3.11	6.16	6.16	0.99307	Cell surface receptor IPT/TIG (2);	0.064498	0.64402	D	0.000009	T	0.21881	0.0527	L	0.36672	1.1	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	T	0.00034	-1.2264	10	0.51188	T	0.08	.	18.0158	0.89239	0.0:0.0:1.0:0.0	.	828	O60486	PLXC1_HUMAN	I	828	ENSP00000258526:V828I	ENSP00000258526:V828I	V	+	1	0	PLXNC1	93165903	1.000000	0.71417	0.147000	0.22382	0.132000	0.20833	5.581000	0.67471	2.937000	0.99478	0.650000	0.86243	GTA		0.507	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			3	38	0	0	0	1	0	3	38				
ZNF225	7768	broad.mit.edu	37	19	44635831	44635831	+	Missense_Mutation	SNP	A	A	G			TCGA-FY-A3NP-01A-11D-A21A-08	TCGA-FY-A3NP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d117c65a-9493-4628-9eb0-1450fed1fb4f	7e10e1f6-d078-4e0b-aa0a-4be138ac0a3a	g.chr19:44635831A>G	ENST00000262894.6	+	5	1344	c.1064A>G	c.(1063-1065)tAt>tGt	p.Y355C	ZNF225_ENST00000590612.1_Missense_Mutation_p.Y355C|ZNF225_ENST00000592780.1_3'UTR	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	355					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				CGCTTCATTTATAGGCAAGAT	0.423																																						uc002oyj.1																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16						c.(1063-1065)tAt>tGt		Homo sapiens zinc finger protein 225 (ZNF225), mRNA.							110.0	118.0	115.0					19																	44635831		2188	4290	6478	SO:0001583	missense	7768				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44635831A>G	AF187991	CCDS46100.1	19q13.31	2013-01-08				ENSG00000256294		"""Zinc fingers, C2H2-type"", ""-"""	13018	protein-coding gene	gene with protein product							Standard	NM_013362		Approved		uc002oyj.1	Q9UK10		ENST00000262894.6:c.1064A>G	19.37:g.44635831A>G	ENSP00000262894:p.Tyr355Cys					ZNF225_uc010ejf.1_Missense_Mutation_p.Y355C	p.Y355C	NM_013362	NP_037494	Q9UK10	ZN225_HUMAN			4	1307	+		Prostate(69;0.0352)|all_neural(266;0.202)	355					A8K8S2|Q53F12|Q9NS46|Q9UID8	Missense_Mutation	SNP	ENST00000262894.6	37	c.1064A>G	CCDS46100.1	.	.	.	.	.	.	.	.	.	.	A	7.319	0.616553	0.14129	.	.	ENSG00000256294	ENST00000262894;ENST00000544184	T	0.08546	3.08	2.63	-3.16	0.05217	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03263	0.0095	N	0.11313	0.125	0.09310	N	1	B	0.02656	0.0	B	0.11329	0.006	T	0.41645	-0.9497	9	0.34782	T	0.22	.	0.7401	0.00972	0.3123:0.309:0.2158:0.1629	.	355	Q9UK10	ZN225_HUMAN	C	355;319	ENSP00000262894:Y355C	ENSP00000262894:Y355C	Y	+	2	0	ZNF225	49327671	0.000000	0.05858	0.000000	0.03702	0.520000	0.34377	-9.440000	0.00011	-1.128000	0.02922	-0.464000	0.05259	TAT		0.423	ZNF225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460581.1			17	29	0	0	0	1	0	17	29				
ATP1A2	477	broad.mit.edu	37	1	160106465	160106465	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3NP-01A-11D-A21A-08	TCGA-FY-A3NP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d117c65a-9493-4628-9eb0-1450fed1fb4f	7e10e1f6-d078-4e0b-aa0a-4be138ac0a3a	g.chr1:160106465G>A	ENST00000361216.3	+	19	2758	c.2669G>A	c.(2668-2670)cGg>cAg	p.R890Q	ATP1A2_ENST00000392233.3_Missense_Mutation_p.R890Q	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	890					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TGGGATGACCGGACCATGAAT	0.552																																						uc001fvc.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69						c.(2668-2670)cGg>cAg		Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.							97.0	87.0	91.0					1																	160106465		2203	4300	6503	SO:0001583	missense	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160106465G>A	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.2669G>A	1.37:g.160106465G>A	ENSP00000354490:p.Arg890Gln					ATP1A2_uc001fvb.2_Missense_Mutation_p.R890Q|ATP1A2_uc001fvd.3_Missense_Mutation_p.R609Q	p.R890Q	NM_000702	NP_000693	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		18	2801	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		890					D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	ENST00000361216.3	37	c.2669G>A	CCDS1196.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.35|17.35	3.367881|3.367881	0.61513|0.61513	.|.	.|.	ENSG00000018625|ENSG00000018625	ENST00000447527|ENST00000361216;ENST00000392233;ENST00000435866	.|D;D	.|0.88664	.|-2.41;-2.41	4.71|4.71	4.71|4.71	0.59529|0.59529	.|ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.79441|0.79441	0.4446|0.4446	L|L	0.43757|0.43757	1.38|1.38	0.48452|0.48452	D|D	0.999657|0.999657	.|B;B	.|0.18610	.|0.029;0.015	.|B;B	.|0.15870	.|0.013;0.014	T|T	0.76353|0.76353	-0.2990|-0.2990	5|10	.|0.38643	.|T	.|0.18	.|.	15.5314|15.5314	0.75964|0.75964	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|790;890	.|F5GXJ7;P50993	.|.;AT1A2_HUMAN	R|Q	584|890;890;593	.|ENSP00000354490:R890Q;ENSP00000376066:R890Q	.|ENSP00000354490:R890Q	G|R	+|+	1|2	0|0	ATP1A2|ATP1A2	158373089|158373089	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	4.368000|4.368000	0.59505|0.59505	2.590000|2.590000	0.87494|0.87494	0.561000|0.561000	0.74099|0.74099	GGA|CGG		0.552	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		3	61	0	0	0	1	0	3	61				
OAS3	4940	broad.mit.edu	37	12	113403801	113403801	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3NP-01A-11D-A21A-08	TCGA-FY-A3NP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d117c65a-9493-4628-9eb0-1450fed1fb4f	7e10e1f6-d078-4e0b-aa0a-4be138ac0a3a	g.chr12:113403801G>A	ENST00000228928.7	+	12	2835	c.2656G>A	c.(2656-2658)Gac>Aac	p.D886N	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	886	OAS domain 3.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						CCAGAGTGTGGACTTTGATGT	0.582																																						uc001tug.3																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						c.(2656-2658)Gac>Aac		Homo sapiens 2'-5'-oligoadenylate synthetase 3, 100kDa (OAS3), mRNA.							48.0	51.0	50.0					12																	113403801		2097	4229	6326	SO:0001583	missense	4940				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|RNA binding|nucleotidyltransferase activity	g.chr12:113403801G>A	AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331			8088	protein-coding gene	gene with protein product		603351	"""2'-5'-oligoadenylate synthetase 3 (100 kD)"""			9790745	Standard	NM_006187		Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.2656G>A	12.37:g.113403801G>A	ENSP00000228928:p.Asp886Asn						p.D886N	NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN			11	2743	+			886			OAS domain 3.		Q2HJ14|Q9H3P5	Missense_Mutation	SNP	ENST00000228928.7	37	c.2656G>A	CCDS44981.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.30|17.30	3.353763|3.353763	0.61293|0.61293	.|.	.|.	ENSG00000111331|ENSG00000111331	ENST00000228928;ENST00000323881|ENST00000546973	T|.	0.09255|.	3.0|.	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	0.000000|.	0.35677|.	U|.	0.003043|.	T|.	0.59266|.	0.2181|.	L|L	0.41710|0.41710	1.295|1.295	0.80722|0.80722	D|D	1|1	P|.	0.43750|.	0.816|.	B|.	0.39805|.	0.31|.	T|.	0.55263|.	-0.8168|.	10|.	0.51188|.	T|.	0.08|.	.|.	14.5781|14.5781	0.68265|0.68265	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	886|.	Q9Y6K5|.	OAS3_HUMAN|.	N|X	886;885|57	ENSP00000228928:D886N|.	ENSP00000228928:D886N|.	D|W	+|+	1|3	0|0	OAS3|OAS3	111888184|111888184	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	3.856000|3.856000	0.55964|0.55964	2.494000|2.494000	0.84150|0.84150	0.655000|0.655000	0.94253|0.94253	GAC|TGG		0.582	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405920.1			15	18	0	0	0	1	0	15	18				
ENPEP	2028	broad.mit.edu	37	4	111398204	111398204	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3NP-01A-11D-A21A-08	TCGA-FY-A3NP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d117c65a-9493-4628-9eb0-1450fed1fb4f	7e10e1f6-d078-4e0b-aa0a-4be138ac0a3a	g.chr4:111398204G>A	ENST00000265162.5	+	1	976	c.634G>A	c.(634-636)Gga>Aga	p.G212R		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	212					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		CACGGAGAACGGACAAGTCAA	0.453																																						uc003iab.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(634-636)Gga>Aga		Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	L-Glutamic Acid(DB00142)						37.0	41.0	40.0					4																	111398204		2203	4299	6502	SO:0001583	missense	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111398204G>A	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.634G>A	4.37:g.111398204G>A	ENSP00000265162:p.Gly212Arg						p.G212R	NM_001977	NP_001968	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	0	976	+		Hepatocellular(203;0.217)	212					Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	c.634G>A	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759380	0.69763	.	.	ENSG00000138792	ENST00000265162	T	0.05786	3.39	5.57	3.83	0.44106	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.261632	0.39146	N	0.001444	T	0.28034	0.0691	M	0.90814	3.15	0.52501	D	0.999959	D	0.76494	0.999	D	0.68765	0.96	T	0.13045	-1.0524	10	0.87932	D	0	.	11.4987	0.50424	0.1445:0.0:0.8555:0.0	.	212	Q07075	AMPE_HUMAN	R	212	ENSP00000265162:G212R	ENSP00000265162:G212R	G	+	1	0	ENPEP	111617653	1.000000	0.71417	0.077000	0.20336	0.918000	0.54935	6.323000	0.72891	1.342000	0.45619	0.655000	0.94253	GGA		0.453	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			7	32	0	0	0	1	0	7	32				
RANBP10	57610	broad.mit.edu	37	16	67762359	67762359	+	Missense_Mutation	SNP	T	T	A			TCGA-FY-A3NP-01A-11D-A21A-08	TCGA-FY-A3NP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d117c65a-9493-4628-9eb0-1450fed1fb4f	7e10e1f6-d078-4e0b-aa0a-4be138ac0a3a	g.chr16:67762359T>A	ENST00000317506.3	-	11	1523	c.1408A>T	c.(1408-1410)Atg>Ttg	p.M470L	RANBP10_ENST00000448631.2_Missense_Mutation_p.M444L|RANBP10_ENST00000411657.2_Missense_Mutation_p.M383L|RANBP10_ENST00000536251.1_Missense_Mutation_p.M241L|RANBP10_ENST00000602677.1_Missense_Mutation_p.M500L	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	470					microtubule cytoskeleton organization (GO:0000226)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		CGTGTGGACATGCTTCCTAGC	0.582																																						uc002eud.3																			0				endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23						c.(1408-1410)Atg>Ttg		Homo sapiens RAN binding protein 10 (RANBP10), mRNA.							205.0	136.0	160.0					16																	67762359		2198	4300	6498	SO:0001583	missense	57610							g.chr16:67762359T>A	AB040897	CCDS32469.1	16q22	2008-02-05				ENSG00000141084			29285	protein-coding gene	gene with protein product		614031				14684163	Standard	NM_020850		Approved	KIAA1464	uc002eud.3	Q6VN20		ENST00000317506.3:c.1408A>T	16.37:g.67762359T>A	ENSP00000316589:p.Met470Leu					RANBP10_uc010ceo.3_Missense_Mutation_p.M241L|RANBP10_uc010vju.2_Missense_Mutation_p.M444L|RANBP10_uc010vjv.2_Missense_Mutation_p.M383L|RANBP10_uc010vjw.1_Missense_Mutation_p.M161L	p.M470L	NM_020850	NP_065901	Q6VN20	RBP10_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)	10	1524	-		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)	470					A4FTY2|B4DID0|B4DQH9|E7EW27|Q9P264	Missense_Mutation	SNP	ENST00000317506.3	37	c.1408A>T	CCDS32469.1	.	.	.	.	.	.	.	.	.	.	T	16.05	3.013450	0.54468	.	.	ENSG00000141084	ENST00000317506;ENST00000448631;ENST00000536251;ENST00000411657	.	.	.	5.87	-1.19	0.09585	.	0.372776	0.31279	N	0.007923	T	0.23451	0.0567	N	0.08118	0	0.80722	D	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.002	T	0.02070	-1.1219	9	0.27082	T	0.32	-4.8927	4.7241	0.12933	0.2392:0.3967:0.0:0.364	.	383;444;470	B4DID0;B4DQH9;Q6VN20	.;.;RBP10_HUMAN	L	470;444;241;383	.	ENSP00000316589:M470L	M	-	1	0	RANBP10	66319860	1.000000	0.71417	0.978000	0.43139	0.949000	0.60115	2.808000	0.47963	-0.011000	0.14247	0.533000	0.62120	ATG		0.582	RANBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467896.1	NM_020850		18	40	0	0	0	1	0	18	40				
KCNH7	90134	broad.mit.edu	37	2	163302758	163302758	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FY-A3NP-01A-11D-A21A-08	TCGA-FY-A3NP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d117c65a-9493-4628-9eb0-1450fed1fb4f	7e10e1f6-d078-4e0b-aa0a-4be138ac0a3a	g.chr2:163302758G>A	ENST00000332142.5	-	7	1423	c.1324C>T	c.(1324-1326)Cga>Tga	p.R442*	KCNH7_ENST00000328032.4_Nonsense_Mutation_p.R435*	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	442					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.R442*(1)|p.R435*(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	CCACATTCTCGTCTTTTCTGT	0.383																																					GBM(196;1492 2208 17507 24132 45496)	uc002uch.2																			2	Substitution - Nonsense(2)	p.R442*(2)|p.R442Q(1)|p.R442P(1)|p.R435*(1)	endometrium(2)	NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108						c.(1324-1326)Cga>Tga		Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	Ibutilide(DB00308)						93.0	81.0	85.0					2																	163302758		2203	4299	6502	SO:0001587	stop_gained	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163302758G>A	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.1324C>T	2.37:g.163302758G>A	ENSP00000331727:p.Arg442*					KCNH7_uc002uci.3_Nonsense_Mutation_p.R435*	p.R442*	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN			6	1553	-			442					Q53QU4|Q53TB7|Q53TP9|Q8IV15	Nonsense_Mutation	SNP	ENST00000332142.5	37	c.1324C>T	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	G	37	6.064184	0.97251	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	.	.	.	5.7	2.47	0.30058	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.6513	0.85203	0.0:0.0:0.61:0.39	.	.	.	.	X	442;435	.	ENSP00000333781:R435X	R	-	1	2	KCNH7	163011004	0.998000	0.40836	0.995000	0.50966	0.996000	0.88848	2.511000	0.45476	0.697000	0.31718	0.650000	0.86243	CGA		0.383	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		15	16	0	0	0	1	0	15	16				
LPHN1	22859	broad.mit.edu	37	19	14267930	14267930	+	Silent	SNP	G	G	A			TCGA-FY-A3NP-01A-11D-A21A-08	TCGA-FY-A3NP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d117c65a-9493-4628-9eb0-1450fed1fb4f	7e10e1f6-d078-4e0b-aa0a-4be138ac0a3a	g.chr19:14267930G>A	ENST00000340736.6	-	16	3085	c.2788C>T	c.(2788-2790)Ctg>Ttg	p.L930L	LPHN1_ENST00000361434.3_Silent_p.L925L|CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000588658.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	930					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AAATAGTGCAGCAGGCCGGCG	0.642																																						uc010xnn.2																			0				central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(2788-2790)Ctg>Ttg		Homo sapiens latrophilin 1 (LPHN1), transcript variant 1, mRNA.							48.0	49.0	48.0					19																	14267930		2203	4300	6503	SO:0001819	synonymous_variant	22859				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr19:14267930G>A	AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"""-"", ""GPCR / Class B : Orphans"""	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.2788C>T	19.37:g.14267930G>A						LPHN1_uc010xno.2_Silent_p.L925L|LOC100507373_uc002myf.3_Intron	p.L930L	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN			15	3084	-			930					Q96IE7|Q9BU07|Q9HAR3	Silent	SNP	ENST00000340736.6	37	c.2788C>T	CCDS32928.1																																																																																				0.642	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921		3	30	0	0	0	1	0	3	30				
