#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_ACHILLES_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
KCNH1	3756	broad.mit.edu	37	1	211092987	211092987	+	Missense_Mutation	SNP	A	A	G			TCGA-75-6203-01A-11D-1753-08	TCGA-75-6203-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d9cd7f95-07d3-4b87-be83-87340b08d249	fdf9b270-14ff-4961-978e-5dff14d77feb	g.chr1:211092987A>G	ENST00000271751.4	-	7	1484	c.1457T>C	c.(1456-1458)aTt>aCt	p.I486T	KCNH1_ENST00000367007.4_Missense_Mutation_p.I459T			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	486					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)	p.I486T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CTTACAGCCAATCATCATGAT	0.493																																							uc001hib.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(1456-1458)ATT>ACT		potassium voltage-gated channel, subfamily H,							159.0	150.0	153.0					1																	211092987		2203	4300	6503	SO:0001583	missense	3756				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	g.chr1:211092987A>G	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.1457T>C	1.37:g.211092987A>G	ENSP00000271751:p.Ile486Thr					KCNH1_uc001hic.2_Missense_Mutation_p.I459T	p.I486T	NM_172362	NP_758872	O95259	KCNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)	7	1627	-			486			Helical; Name=Segment S6; (Potential).		B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	ENST00000271751.4	37	c.1457T>C	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.157376	0.78114	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.98862	-5.19;-5.19	5.57	5.57	0.84162	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98340	0.9449	L	0.55990	1.75	0.80722	D	1	P;P	0.45126	0.851;0.851	P;P	0.54174	0.744;0.744	D	0.99486	1.0949	10	0.87932	D	0	.	14.8997	0.70670	1.0:0.0:0.0:0.0	.	459;486	Q14CL3;O95259	.;KCNH1_HUMAN	T	486;459	ENSP00000271751:I486T;ENSP00000355974:I459T	ENSP00000271751:I486T	I	-	2	0	KCNH1	209159610	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.999000	0.93557	2.119000	0.64992	0.459000	0.35465	ATT		0.493	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		6	145	0	0	0	0.02938	0	6	145				
ZSWIM8	23053	broad.mit.edu	37	10	75550013	75550013	+	Silent	SNP	C	C	T			TCGA-75-6203-01A-11D-1753-08	TCGA-75-6203-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d9cd7f95-07d3-4b87-be83-87340b08d249	fdf9b270-14ff-4961-978e-5dff14d77feb	g.chr10:75550013C>T	ENST00000605216.1	+	7	1121	c.904C>T	c.(904-906)Ctg>Ttg	p.L302L	ZSWIM8_ENST00000398706.2_Silent_p.L302L|ZSWIM8_ENST00000604524.1_Silent_p.L302L|ZSWIM8_ENST00000604729.1_Silent_p.L302L|ZSWIM8_ENST00000603114.1_Silent_p.L302L	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	302							zinc ion binding (GO:0008270)	p.L302L(2)									CAAAAAGACACTGCACAAGTT	0.552																																							uc009xrl.2		NA																	2	Substitution - coding silent(2)		lung(2)	breast(1)	1						c.(904-906)CTG>TTG		hypothetical protein LOC23053							158.0	159.0	159.0					10																	75550013		2014	4187	6201	SO:0001819	synonymous_variant	23053						zinc ion binding	g.chr10:75550013C>T	BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.904C>T	10.37:g.75550013C>T						KIAA0913_uc001jve.2_Silent_p.L302L|KIAA0913_uc001jvf.2_Silent_p.L302L|KIAA0913_uc001jvh.2_5'Flank|KIAA0913_uc001jvi.2_5'Flank|KIAA0913_uc010qkr.1_5'Flank|KIAA0913_uc001jvj.2_5'Flank	p.L302L	NM_015037	NP_055852	A7E2V4	K0913_HUMAN			7	936	+	Prostate(51;0.0112)		302					B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Silent	SNP	ENST00000605216.1	37	c.904C>T		.	.	.	.	.	.	.	.	.	.	C	5.487	0.274902	0.10403	.	.	ENSG00000214655	ENST00000433366	.	.	.	5.34	2.52	0.30459	.	.	.	.	.	T	0.50973	0.1647	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27226	-1.0080	5	0.16896	T	0.51	-3.6601	10.7019	0.45933	0.0:0.7937:0.0:0.2063	.	.	.	.	I	24	.	ENSP00000387828:T24I	T	+	2	0	KIAA0913	75220019	0.468000	0.25839	0.445000	0.26908	0.958000	0.62258	1.107000	0.31110	0.403000	0.25479	-0.140000	0.14226	ACT		0.552	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487		8	104	0	0	0	0.038147	0	8	104				
OR5I1	10798	broad.mit.edu	37	11	55703528	55703528	+	Missense_Mutation	SNP	G	G	T	rs200455943		TCGA-75-6203-01A-11D-1753-08	TCGA-75-6203-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d9cd7f95-07d3-4b87-be83-87340b08d249	fdf9b270-14ff-4961-978e-5dff14d77feb	g.chr11:55703528G>T	ENST00000301532.3	-	1	348	c.349C>A	c.(349-351)Ctg>Atg	p.L117M		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	117					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L117M(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						ATGGCGGCCAGGATGAAGGAT	0.443																																							uc010ris.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(349-351)CTG>ATG		olfactory receptor, family 5, subfamily I,							51.0	53.0	52.0					11																	55703528		2201	4292	6493	SO:0001583	missense	10798				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55703528G>T	BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"""GPCR / Class A : Olfactory receptors"""	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.349C>A	11.37:g.55703528G>T	ENSP00000301532:p.Leu117Met						p.L117M	NM_006637	NP_006628	Q13606	OR5I1_HUMAN			1	349	-			117			Helical; Name=3; (Potential).		Q6IEU4	Missense_Mutation	SNP	ENST00000301532.3	37	c.349C>A	CCDS7949.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.523210	0.27211	.	.	ENSG00000167825	ENST00000301532	T	0.07021	3.23	4.94	-1.35	0.09114	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37906	N	0.001899	T	0.19087	0.0458	M	0.87900	2.915	0.21355	N	0.999714	D	0.57257	0.979	P	0.51487	0.671	T	0.09662	-1.0664	10	0.87932	D	0	.	10.3035	0.43667	0.4251:0.0:0.5749:0.0	.	117	Q13606	OR5I1_HUMAN	M	117	ENSP00000301532:L117M	ENSP00000301532:L117M	L	-	1	2	OR5I1	55460104	0.000000	0.05858	0.197000	0.23402	0.033000	0.12548	-0.403000	0.07214	-0.203000	0.10251	-0.334000	0.08254	CTG		0.443	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391528.1	NM_006637		11	36	1	0	2.80697e-09	0.080935	3.43075e-09	11	36				
FAT3	120114	broad.mit.edu	37	11	92616397	92616397	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6203-01A-11D-1753-08	TCGA-75-6203-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d9cd7f95-07d3-4b87-be83-87340b08d249	fdf9b270-14ff-4961-978e-5dff14d77feb	g.chr11:92616397G>A	ENST00000298047.6	+	23	12792	c.12775G>A	c.(12775-12777)Gag>Aag	p.E4259K	FAT3_ENST00000533797.1_Missense_Mutation_p.E594K|FAT3_ENST00000409404.2_Missense_Mutation_p.E4259K|FAT3_ENST00000525166.1_Missense_Mutation_p.E4109K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4259					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E4259K(2)|p.E834K(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCTGGGAGGCGAGCACCAGGA	0.682										TCGA Ovarian(4;0.039)																													uc001pdj.3		NA																	3	Substitution - Missense(3)		lung(3)	ovary(4)|pancreas(1)	5						c.(12775-12777)GAG>AAG		FAT tumor suppressor homolog 3							74.0	90.0	85.0					11																	92616397		2136	4232	6368	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92616397G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.12775G>A	11.37:g.92616397G>A	ENSP00000298047:p.Glu4259Lys	TCGA Ovarian(4;0.039)				FAT3_uc001pdi.3_Missense_Mutation_p.E699K	p.E4259K	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			23	12792	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	4259			Cytoplasmic (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.12775G>A		.	.	.	.	.	.	.	.	.	.	G	36	5.939068	0.97128	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;D	0.87029	-0.92;-1.06;-0.93;-2.2	5.85	5.85	0.93711	.	.	.	.	.	D	0.92110	0.7499	M	0.80422	2.495	0.80722	D	1	D;B	0.69078	0.997;0.004	P;B	0.58391	0.838;0.001	D	0.88696	0.3212	9	0.12103	T	0.63	.	20.161	0.98133	0.0:0.0:1.0:0.0	.	4259;4259	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	K	4259;4259;4109;594	ENSP00000298047:E4259K;ENSP00000387040:E4259K;ENSP00000432586:E4109K;ENSP00000436399:E594K	ENSP00000298047:E4259K	E	+	1	0	FAT3	92256045	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	9.740000	0.98839	2.770000	0.95276	0.655000	0.94253	GAG		0.682	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		17	116	0	0	0	0.038395	0	17	116				
Unknown	0	broad.mit.edu	37	12	92105	92105	+	IGR	SNP	G	G	A			TCGA-75-6203-01A-11D-1753-08	TCGA-75-6203-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d9cd7f95-07d3-4b87-be83-87340b08d249	fdf9b270-14ff-4961-978e-5dff14d77feb	g.chr12:92105G>A								AC215219.1 (18783 upstream) : AC026369.1 (54946 downstream)																							AAGGAAGGGCGCAGCGCCAGG	0.592																																							uc010sdi.1		NA																	0					NA						c.(205-207)CGC>TGC		SubName: Full=DEAD/H box polypeptide 11 like 11;																																				SO:0001628	intergenic_variant	0							g.chr12:92105G>A																													12.37:g.92105G>A						uc010sdj.1_RNA	p.R69C							2	233	-									Missense_Mutation	SNP		37	c.205C>T																																																																																				0	0.592									3	10	0	0	0	0.009096	0	3	10				
METTL17	64745	broad.mit.edu	37	14	21464765	21464765	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6203-01A-11D-1753-08	TCGA-75-6203-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d9cd7f95-07d3-4b87-be83-87340b08d249	fdf9b270-14ff-4961-978e-5dff14d77feb	g.chr14:21464765G>A	ENST00000339374.6	+	13	1393	c.1160G>A	c.(1159-1161)cGt>cAt	p.R387H	SLC39A2_ENST00000298681.4_5'Flank|METTL17_ENST00000382985.4_Missense_Mutation_p.R387H|RP11-84C10.4_ENST00000557335.1_RNA|METTL17_ENST00000556670.2_Missense_Mutation_p.R387H|SLC39A2_ENST00000554422.1_5'Flank	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17	387					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	copper ion binding (GO:0005507)|methyltransferase activity (GO:0008168)	p.R387H(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						CGCTGGCCCCGTATCACTCAG	0.537																																							uc001vyn.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1159-1161)CGT>CAT		methyltransferase 11 domain containing 1 isoform							66.0	55.0	59.0					14																	21464765		2203	4300	6503	SO:0001583	missense	64745				translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity	g.chr14:21464765G>A	AK024512	CCDS9562.1, CCDS41913.1	14q11.2	2011-03-03	2011-03-02	2011-03-02	ENSG00000165792	ENSG00000165792			19280	protein-coding gene	gene with protein product			"""methyltransferase 11 domain containing 1"""	METT11D1		11278769	Standard	XM_006720235		Approved	FLJ20859	uc001vyn.3	Q9H7H0	OTTHUMG00000029610	ENST00000339374.6:c.1160G>A	14.37:g.21464765G>A	ENSP00000343041:p.Arg387His					METT11D1_uc001vym.2_Missense_Mutation_p.R387H|METT11D1_uc001vyo.2_Missense_Mutation_p.R387H|METT11D1_uc001vyp.2_Missense_Mutation_p.R229H|METT11D1_uc001vyq.2_Missense_Mutation_p.R229H|SLC39A2_uc001vyr.2_5'Flank|SLC39A2_uc001vys.2_5'Flank	p.R387H	NM_022734	NP_073571	Q9H7H0	MET17_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0191)	13	1357	+	all_cancers(95;0.00267)		387					Q9BSH1|Q9BZH2|Q9BZH3	Missense_Mutation	SNP	ENST00000339374.6	37	c.1160G>A	CCDS9562.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.102649	0.56183	.	.	ENSG00000165792	ENST00000339374;ENST00000382985	T;T	0.56941	0.43;0.43	5.34	4.44	0.53790	.	0.000000	0.85682	D	0.000000	T	0.77384	0.4122	M	0.91818	3.245	0.51012	D	0.999904	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.82857	-0.0250	10	0.87932	D	0	.	13.8015	0.63204	0.0:0.1549:0.8451:0.0	.	387;387;387	Q9H7H0-3;Q9H7H0;Q9H7H0-2	.;MET17_HUMAN;.	H	387	ENSP00000343041:R387H;ENSP00000372445:R387H	ENSP00000343041:R387H	R	+	2	0	METTL17	20534605	1.000000	0.71417	0.828000	0.32881	0.273000	0.26683	5.720000	0.68470	1.238000	0.43771	-0.176000	0.13171	CGT		0.537	METTL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073804.4	NM_022734		8	48	0	0	0	0.047766	0	8	48				
AHNAK2	113146	broad.mit.edu	37	14	105413949	105413949	+	Silent	SNP	G	G	A			TCGA-75-6203-01A-11D-1753-08	TCGA-75-6203-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d9cd7f95-07d3-4b87-be83-87340b08d249	fdf9b270-14ff-4961-978e-5dff14d77feb	g.chr14:105413949G>A	ENST00000333244.5	-	7	7958	c.7839C>T	c.(7837-7839)agC>agT	p.S2613S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2613						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.S2613S(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCACCTCCATGCTGGACAGAG	0.632																																							uc010axc.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(7837-7839)AGC>AGT		AHNAK nucleoprotein 2							145.0	155.0	152.0					14																	105413949		1883	4101	5984	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105413949G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.7839C>T	14.37:g.105413949G>A						AHNAK2_uc001ypx.2_Silent_p.S2513S	p.S2613S	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	7959	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2613					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.7839C>T	CCDS45177.1																																																																																				0.632	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		36	191	0	0	0	0.074837	0	36	191				
RYR3	6263	broad.mit.edu	37	15	33765678	33765678	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6203-01A-11D-1753-08	TCGA-75-6203-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d9cd7f95-07d3-4b87-be83-87340b08d249	fdf9b270-14ff-4961-978e-5dff14d77feb	g.chr15:33765678G>A	ENST00000389232.4	+	2	180	c.110G>A	c.(109-111)tGc>tAc	p.C37Y	RYR3_ENST00000415757.3_Missense_Mutation_p.C37Y	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	37					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.C37Y(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGGAAGTTCTGCCTGGCAGCC	0.547																																							uc001zhi.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(109-111)TGC>TAC		ryanodine receptor 3							97.0	100.0	99.0					15																	33765678		2083	4208	6291	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33765678G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.110G>A	15.37:g.33765678G>A	ENSP00000373884:p.Cys37Tyr					RYR3_uc010bar.2_Missense_Mutation_p.C37Y	p.C37Y	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	2	180	+		all_lung(180;7.18e-09)	37			Cytoplasmic (By similarity).		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.110G>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.321394	0.81580	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.97994	-4.65;-4.65	4.86	4.86	0.63082	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);	0.000000	0.85682	D	0.000000	D	0.98635	0.9543	M	0.82056	2.57	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.998;0.992	D	0.99556	1.0967	10	0.66056	D	0.02	.	16.924	0.86170	0.0:0.0:1.0:0.0	.	37;37	Q15413-2;Q15413	.;RYR3_HUMAN	Y	37	ENSP00000373884:C37Y;ENSP00000399610:C37Y	ENSP00000354735:C37Y	C	+	2	0	RYR3	31552970	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	9.149000	0.94659	2.508000	0.84585	0.650000	0.86243	TGC		0.547	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			9	55	0	0	0	0.080935	0	9	55				
LCMT1	51451	broad.mit.edu	37	16	25175976	25175976	+	Silent	SNP	C	C	T	rs377530979	byFrequency	TCGA-75-6203-01A-11D-1753-08	TCGA-75-6203-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d9cd7f95-07d3-4b87-be83-87340b08d249	fdf9b270-14ff-4961-978e-5dff14d77feb	g.chr16:25175976C>T	ENST00000399069.3	+	7	782	c.627C>T	c.(625-627)tcC>tcT	p.S209S	LCMT1_ENST00000572869.1_3'UTR|LCMT1_ENST00000380966.4_Silent_p.S154S	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1	209					C-terminal protein methylation (GO:0006481)|cellular protein modification process (GO:0006464)|negative regulation of protein complex assembly (GO:0031333)|protein methylation (GO:0006479)|regulation of apoptotic process (GO:0042981)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	cytosol (GO:0005829)	protein C-terminal carboxyl O-methyltransferase activity (GO:0003880)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)	p.S209S(1)							GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	CAGAGCAGTCCGCAAACCTCC	0.428													C|||	3	0.000599042	0.0008	0.0	5008	,	,		21796	0.0		0.0	False		,,,				2504	0.002				Colon(200;565 2072 24396 47922 50898)	Colon(200;565 2072 24396 47922 50898)	uc002dnx.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(625-627)TCC>TCT		leucine carboxyl methyltransferase 1 isoform a	L-Leucine(DB00149)	C	,	6,3842		0,6,1918	106.0	100.0	102.0		462,627	-7.3	0.9	16		102	0,8314		0,0,4157	no	coding-synonymous,coding-synonymous	LCMT1	NM_001032391.1,NM_016309.2	,	0,6,6075	TT,TC,CC		0.0,0.1559,0.0493	,	154/280,209/335	25175976	6,12156	1924	4157	6081	SO:0001819	synonymous_variant	51451						protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity	g.chr16:25175976C>T	AF037601	CCDS45445.1, CCDS45446.1	16p12.1	2014-08-01			ENSG00000205629	ENSG00000205629			17557	protein-coding gene	gene with protein product	"""protein phosphatase methyltransferase 1"""	610286				10810093	Standard	XM_005255354		Approved	CGI-68, PPMT1	uc002dnx.1	Q9UIC8	OTTHUMG00000177182	ENST00000399069.3:c.627C>T	16.37:g.25175976C>T						LCMT1_uc002dny.1_Silent_p.S154S|LCMT1_uc002dnz.1_Silent_p.S109S|LCMT1_uc002doa.1_Silent_p.S54S	p.S209S	NM_016309	NP_057393	Q9UIC8	LCMT1_HUMAN		GBM - Glioblastoma multiforme(48;0.0336)	7	785	+			209					A6NL89|A8K770|Q53FC5|Q96CI5|Q9H6I9|Q9NTG4|Q9Y378	Silent	SNP	ENST00000399069.3	37	c.627C>T	CCDS45445.1																																																																																				0.428	LCMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435747.4	NM_016309		12	87	0	0	0	0.080935	0	12	87				
TTN	7273	broad.mit.edu	37	2	179600640	179600640	+	Missense_Mutation	SNP	C	C	T	rs373378672		TCGA-75-6203-01A-11D-1753-08	TCGA-75-6203-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d9cd7f95-07d3-4b87-be83-87340b08d249	fdf9b270-14ff-4961-978e-5dff14d77feb	g.chr2:179600640C>T	ENST00000591111.1	-	48	13806	c.13582G>A	c.(13582-13584)Gac>Aac	p.D4528N	TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.D4845N|TTN_ENST00000342992.6_Missense_Mutation_p.D3601N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000582847.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12284	Ig-like 25.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.D3601N(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTCTGCGTCGGAAATCCTC	0.438																																							uc010zfg.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(10801-10803)GAC>AAC		titin isoform N2-A		C	,,,ASN/ASP	1,3869		0,1,1934	134.0	130.0	131.0		,,,10801	3.0	0.8	2		131	1,8283		0,1,4141	no	intron,intron,intron,missense	TTN	NM_003319.4,NM_133432.3,NM_133437.3,NM_133378.4	,,,23	0,2,6075	TT,TC,CC		0.0121,0.0258,0.0165	,,,benign	,,,3601/33424	179600640	2,12152	1935	4142	6077	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179600640C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.13582G>A	2.37:g.179600640C>T	ENSP00000465570:p.Asp4528Asn					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D262N	p.D3601N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		47	11025	-			4528					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.10801G>A		.	.	.	.	.	.	.	.	.	.	C	2.067	-0.413997	0.04799	2.58E-4	1.21E-4	ENSG00000155657	ENST00000342992	T	0.65732	-0.17	5.93	3.04	0.35103	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.46268	0.1384	N	0.16016	0.355	0.09310	N	0.999998	B	0.19706	0.038	B	0.19391	0.025	T	0.41910	-0.9482	9	0.87932	D	0	.	11.6408	0.51230	0.0:0.5364:0.3944:0.0693	.	4528	Q8WZ42	TITIN_HUMAN	N	3601	ENSP00000343764:D3601N	ENSP00000343764:D3601N	D	-	1	0	TTN	179308885	0.115000	0.22152	0.781000	0.31783	0.010000	0.07245	-0.071000	0.11505	0.332000	0.23536	-0.211000	0.12701	GAC		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		10	73	0	0	0	0.09319	0	10	73				
LRRN4	164312	broad.mit.edu	37	20	6022727	6022727	+	Silent	SNP	G	G	A			TCGA-75-6203-01A-11D-1753-08	TCGA-75-6203-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d9cd7f95-07d3-4b87-be83-87340b08d249	fdf9b270-14ff-4961-978e-5dff14d77feb	g.chr20:6022727G>A	ENST00000378858.4	-	5	1388	c.1164C>T	c.(1162-1164)acC>acT	p.T388T		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	388					long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)		p.T388T(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						TGGGCGCGACGGTGGTACCCT	0.677																																							uc002wmo.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(3)	3						c.(1162-1164)ACC>ACT		leucine rich repeat neuronal 4 precursor							66.0	59.0	62.0					20																	6022727		2203	4300	6503	SO:0001819	synonymous_variant	164312					integral to membrane		g.chr20:6022727G>A	AL118505	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872		"""Fibronectin type III domain containing"""	16208	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 75"""	C20orf75		15870286	Standard	NM_152611		Approved	dJ1056H1.1, NLRR4	uc002wmo.3	Q8WUT4	OTTHUMG00000031825	ENST00000378858.4:c.1164C>T	20.37:g.6022727G>A							p.T388T	NM_152611	NP_689824	Q8WUT4	LRRN4_HUMAN			5	1388	-			388			Extracellular (Potential).		A8K258|Q5JWV6|Q9H419	Silent	SNP	ENST00000378858.4	37	c.1164C>T	CCDS13097.1																																																																																				0.677	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077907.2	NM_152611		7	39	0	0	0	0.058154	0	7	39				
PAK7	57144	broad.mit.edu	37	20	9546621	9546621	+	Silent	SNP	G	G	A	rs368434501		TCGA-75-6203-01A-11D-1753-08	TCGA-75-6203-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d9cd7f95-07d3-4b87-be83-87340b08d249	fdf9b270-14ff-4961-978e-5dff14d77feb	g.chr20:9546621G>A	ENST00000378429.3	-	6	1947	c.1401C>T	c.(1399-1401)acC>acT	p.T467T	PAK7_ENST00000353224.5_Silent_p.T467T|PAK7_ENST00000378423.1_Silent_p.T467T	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	467	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.T467T(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TGTGTTTCTCGGTGGCGATGC	0.522																																							uc002wnl.2		NA																	1	Substitution - coding silent(1)		lung(1)	lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1)	23						c.(1399-1401)ACC>ACT		p21-activated kinase 7		G	,	1,4405	2.1+/-5.4	0,1,2202	276.0	252.0	260.0		1401,1401	-11.0	0.0	20		260	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PAK7	NM_020341.3,NM_177990.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	467/720,467/720	9546621	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9546621G>A	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.1401C>T	20.37:g.9546621G>A						PAK7_uc002wnk.2_Silent_p.T467T|PAK7_uc002wnj.2_Silent_p.T467T|PAK7_uc010gby.1_Silent_p.T467T	p.T467T	NM_020341	NP_065074	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		6	1946	-			467			Protein kinase.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Silent	SNP	ENST00000378429.3	37	c.1401C>T	CCDS13107.1																																																																																				0.522	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			17	165	0	0	0	0.0333	0	17	165				
ARPP21	10777	broad.mit.edu	37	3	35785377	35785377	+	Missense_Mutation	SNP	C	C	T	rs139862817	byFrequency	TCGA-75-6203-01A-11D-1753-08	TCGA-75-6203-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d9cd7f95-07d3-4b87-be83-87340b08d249	fdf9b270-14ff-4961-978e-5dff14d77feb	g.chr3:35785377C>T	ENST00000187397.4	+	18	2408	c.1952C>T	c.(1951-1953)aCg>aTg	p.T651M	ARPP21_ENST00000458225.1_Missense_Mutation_p.T652M|ARPP21_ENST00000444190.1_Missense_Mutation_p.T632M|ARPP21_ENST00000337271.5_Missense_Mutation_p.T632M|MIR128-2_ENST00000384893.1_RNA|ARPP21_ENST00000417925.1_Missense_Mutation_p.T652M	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	651	Gln-rich.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)	p.T651M(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						ACCTCAACCACGCAACAGTAC	0.478																																							uc003cgb.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1951-1953)ACG>ATG		cyclic AMP-regulated phosphoprotein, 21 kD		C	MET/THR	0,4406		0,0,2203	125.0	119.0	121.0		1952	5.8	0.8	3	dbSNP_134	121	5,8595	4.3+/-15.6	0,5,4295	yes	missense	ARPP21	NM_016300.4	81	0,5,6498	TT,TC,CC		0.0581,0.0,0.0384	benign	651/813	35785377	5,13001	2203	4300	6503	SO:0001583	missense	10777					cytoplasm	nucleic acid binding	g.chr3:35785377C>T	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.1952C>T	3.37:g.35785377C>T	ENSP00000187397:p.Thr651Met					ARPP21_uc003cga.2_Missense_Mutation_p.T632M|ARPP21_uc011axy.1_Missense_Mutation_p.T652M|ARPP21_uc003cgf.2_Missense_Mutation_p.T487M|ARPP21_uc003cgg.2_Missense_Mutation_p.T174M|uc011axz.1_5'Flank|MIR128-2_hsa-mir-128-2|MI0000727_5'Flank	p.T651M	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN			18	2216	+			651			Gln-rich.		B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	ENST00000187397.4	37	c.1952C>T	CCDS2661.1	.	.	.	.	.	.	.	.	.	.	C	19.55	3.848328	0.71603	0.0	5.81E-4	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5	5.82	5.82	0.92795	.	0.460434	0.22270	N	0.062267	T	0.68393	0.2996	L	0.60455	1.87	0.25330	N	0.989049	D;D;P;D	0.89917	0.977;1.0;0.872;0.977	P;D;B;P	0.64595	0.595;0.927;0.391;0.595	T	0.61372	-0.7076	10	0.39692	T	0.17	-6.1246	18.2794	0.90092	0.0:1.0:0.0:0.0	.	652;174;651;632	Q9UBL0-3;Q9UBL0-5;Q9UBL0;Q9UBL0-4	.;.;ARP21_HUMAN;.	M	652;632;632;651;652	ENSP00000414351:T652M;ENSP00000337792:T632M;ENSP00000405276:T632M;ENSP00000187397:T651M;ENSP00000412326:T652M	ENSP00000187397:T651M	T	+	2	0	ARPP21	35760381	1.000000	0.71417	0.759000	0.31340	0.919000	0.55068	4.747000	0.62141	2.740000	0.93945	0.655000	0.94253	ACG		0.478	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399		9	110	0	0	0	0.058154	0	9	110				
EPHA3	2042	broad.mit.edu	37	3	89456471	89456471	+	Silent	SNP	G	G	A	rs557055559		TCGA-75-6203-01A-11D-1753-08	TCGA-75-6203-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d9cd7f95-07d3-4b87-be83-87340b08d249	fdf9b270-14ff-4961-978e-5dff14d77feb	g.chr3:89456471G>A	ENST00000336596.2	+	8	1872	c.1647G>A	c.(1645-1647)gcG>gcA	p.A549A	EPHA3_ENST00000494014.1_Silent_p.A549A	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	549					cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.A549A(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CCATTTCAGCGGCAGTAGCAA	0.398										TSP Lung(6;0.00050)			G|||	1	0.000199681	0.0	0.0	5008	,	,		17172	0.001		0.0	False		,,,				2504	0.0						uc003dqy.2		NA																	1	Substitution - coding silent(1)		lung(1)	lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33						c.(1645-1647)GCG>GCA		ephrin receptor EphA3 isoform a precursor							189.0	160.0	170.0					3																	89456471		2203	4300	6503	SO:0001819	synonymous_variant	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89456471G>A	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.1647G>A	3.37:g.89456471G>A		TSP Lung(6;0.00050)				EPHA3_uc010hon.1_RNA	p.A549A	NM_005233	NP_005224	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	8	1872	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	549			Helical; (Potential).		Q9H2V3|Q9H2V4	Silent	SNP	ENST00000336596.2	37	c.1647G>A	CCDS2922.1																																																																																				0.398	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		3	51	0	0	0	0.004672	0	3	51				
UNC5C	8633	broad.mit.edu	37	4	96163597	96163597	+	Missense_Mutation	SNP	T	T	A			TCGA-75-6203-01A-11D-1753-08	TCGA-75-6203-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d9cd7f95-07d3-4b87-be83-87340b08d249	fdf9b270-14ff-4961-978e-5dff14d77feb	g.chr4:96163597T>A	ENST00000453304.1	-	7	1439	c.1091A>T	c.(1090-1092)gAt>gTt	p.D364V	UNC5C_ENST00000506749.1_Missense_Mutation_p.D364V	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	364	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)	p.D364V(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GCAAAGCCCATCAGTGCAGTT	0.512																																							uc003htp.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(1090-1092)GAT>GTT		unc5C precursor							63.0	54.0	57.0					4																	96163597		2203	4300	6503	SO:0001583	missense	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96163597T>A	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.1091A>T	4.37:g.96163597T>A	ENSP00000406022:p.Asp364Val					UNC5C_uc010ilc.1_Missense_Mutation_p.D364V|UNC5C_uc003htq.2_Missense_Mutation_p.D364V	p.D364V	NM_003728	NP_003719	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	7	1245	-		Hepatocellular(203;0.114)	364			Extracellular (Potential).|TSP type-1 2.		Q8IUT0	Missense_Mutation	SNP	ENST00000453304.1	37	c.1091A>T	CCDS3643.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.465283	0.84425	.	.	ENSG00000182168	ENST00000453304;ENST00000331502;ENST00000513796;ENST00000506749	T;T;T	0.59224	0.28;0.28;0.28	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.68613	0.3020	L	0.39633	1.23	0.80722	D	1	D;D;D	0.89917	0.992;1.0;1.0	D;D;D	0.91635	0.917;0.999;0.999	T	0.71951	-0.4437	10	0.87932	D	0	.	15.3444	0.74324	0.0:0.0:0.0:1.0	.	364;364;364	A8K385;E0CX15;O95185	.;.;UNC5C_HUMAN	V	364;323;364;364	ENSP00000406022:D364V;ENSP00000426924:D364V;ENSP00000426153:D364V	ENSP00000328673:D323V	D	-	2	0	UNC5C	96382620	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	6.001000	0.70685	2.263000	0.75096	0.533000	0.62120	GAT		0.512	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		6	36	0	0	0	0.021553	0	6	36				
NPC1L1	29881	broad.mit.edu	37	7	44579720	44579720	+	Silent	SNP	G	G	A	rs202170125	byFrequency	TCGA-75-6203-01A-11D-1753-08	TCGA-75-6203-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d9cd7f95-07d3-4b87-be83-87340b08d249	fdf9b270-14ff-4961-978e-5dff14d77feb	g.chr7:44579720G>A	ENST00000289547.4	-	2	331	c.276C>T	c.(274-276)tcC>tcT	p.S92S	NPC1L1_ENST00000546276.1_Silent_p.S92S|NPC1L1_ENST00000423141.1_Silent_p.S92S|NPC1L1_ENST00000381160.3_Silent_p.S92S	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	92					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)	p.S92S(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GCTGCTTGGCGGAGCAGCAGG	0.602													G|||	2	0.000399361	0.0008	0.0	5008	,	,		18010	0.0		0.001	False		,,,				2504	0.0						uc003tlb.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(274-276)TCC>TCT		Niemann-Pick C1-like protein 1 isoform 1	Ezetimibe(DB00973)						55.0	55.0	55.0					7																	44579720		2203	4300	6503	SO:0001819	synonymous_variant	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44579720G>A		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.276C>T	7.37:g.44579720G>A						NPC1L1_uc003tlc.2_Silent_p.S92S|NPC1L1_uc011kbw.1_Silent_p.S92S|NPC1L1_uc003tld.2_Silent_p.S92S	p.S92S	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN			2	332	-			92			Extracellular (Potential).		A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Silent	SNP	ENST00000289547.4	37	c.276C>T	CCDS5491.1																																																																																				0.602	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		3	35	0	0	0	0.004672	0	3	35				
REXO1L1P	254958	broad.mit.edu	37	8	86573798	86573798	+	Silent	SNP	T	T	G			TCGA-75-6203-01A-11D-1753-08	TCGA-75-6203-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d9cd7f95-07d3-4b87-be83-87340b08d249	fdf9b270-14ff-4961-978e-5dff14d77feb	g.chr8:86573798T>G	ENST00000379010.2	-	1	1928	c.1929A>C	c.(1927-1929)gcA>gcC	p.A643A		NM_172239.4	NP_758439.4												p.A643A(2)		endometrium(1)|lung(4)	5						GGCAGGCGCTTGCGTCCTCGC	0.667																																							uc011lfw.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(1423-1425)GCA>GCC		exonuclease GOR							6.0	5.0	5.0					8																	86573798		1872	3810	5682	SO:0001819	synonymous_variant	254958					cytoplasm|nucleus	exonuclease activity|nucleic acid binding	g.chr8:86573798T>G																												ENST00000379010.2:c.1929A>C	8.37:g.86573798T>G							p.A475A	NM_172239	NP_758439	Q8IX06	GOR_HUMAN			1	1471	-			643						Silent	SNP	ENST00000379010.2	37	c.1425A>C																																																																																					0.667	REXO1L1-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000381106.1			3	67	0	0	0	0.009096	0	3	67				
HCFC1	3054	broad.mit.edu	37	X	153228790	153228790	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6203-01A-11D-1753-08	TCGA-75-6203-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d9cd7f95-07d3-4b87-be83-87340b08d249	fdf9b270-14ff-4961-978e-5dff14d77feb	g.chrX:153228790G>A	ENST00000310441.7	-	4	1564	c.598C>T	c.(598-600)Cgg>Tgg	p.R200W	HCFC1_ENST00000369984.4_Missense_Mutation_p.R200W|HCFC1_ENST00000354233.3_Missense_Mutation_p.R200W|HCFC1_ENST00000461098.1_5'Flank	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	200					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.R101W(1)|p.R200W(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGTGACTCCCGGGGTGGTGGT	0.552																																							uc004fjp.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(598-600)CGG>TGG		host cell factor 1							98.0	98.0	98.0					X																	153228790		1970	4137	6107	SO:0001583	missense	3054				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chrX:153228790G>A		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.598C>T	X.37:g.153228790G>A	ENSP00000309555:p.Arg200Trp						p.R200W	NM_005334	NP_005325	P51610	HCFC1_HUMAN			4	1126	-	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		200	R->D: Eliminates VIC formation. Unable to rescue proliferation in temperature- sensitive arrested cells.				Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	37	c.598C>T	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.543143	0.65198	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.71934	-0.61;-0.61;-0.61	5.27	4.38	0.52667	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.89153	0.6634	H	0.97682	4.055	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.91975	0.5590	10	0.87932	D	0	.	13.2071	0.59803	0.0:0.0:0.8392:0.1608	.	200	P51610	HCFC1_HUMAN	W	200	ENSP00000309555:R200W;ENSP00000359001:R200W;ENSP00000346174:R200W	ENSP00000309555:R200W	R	-	1	2	HCFC1	152881984	1.000000	0.71417	0.988000	0.46212	0.463000	0.32649	5.267000	0.65530	1.066000	0.40716	0.529000	0.55759	CGG		0.552	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		24	89	0	0	0	0.0918	0	24	89				
F8	2157	broad.mit.edu	37	X	154088755	154088755	+	Missense_Mutation	SNP	A	A	T			TCGA-75-6203-01A-11D-1753-08	TCGA-75-6203-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d9cd7f95-07d3-4b87-be83-87340b08d249	fdf9b270-14ff-4961-978e-5dff14d77feb	g.chrX:154088755A>T	ENST00000360256.4	-	25	7052	c.6852T>A	c.(6850-6852)agT>agA	p.S2284R	F8_ENST00000330287.6_Missense_Mutation_p.S149R	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	2284	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.S2284R(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GGCCATCTTGACTGCTGGAGA	0.418																																							uc004fmt.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(6850-6852)AGT>AGA		coagulation factor VIII isoform a precursor	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						150.0	137.0	142.0					X																	154088755		2203	4300	6503	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154088755A>T	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.6852T>A	X.37:g.154088755A>T	ENSP00000353393:p.Ser2284Arg					F8_uc004fms.2_Missense_Mutation_p.S149R	p.S2284R	NM_000132	NP_000123	P00451	FA8_HUMAN			25	7023	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		2284			F5/8 type C 2.		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.6852T>A	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	a	19.31	3.802436	0.70682	.	.	ENSG00000185010	ENST00000330287;ENST00000360256	D;D	0.98633	-5.04;-5.04	5.33	4.2	0.49525	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.98937	0.9639	M	0.88570	2.965	0.58432	D	0.99999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99833	1.1055	10	0.72032	D	0.01	-21.3236	5.8531	0.18704	0.8292:0.0:0.1708:0.0	.	2284;149	P00451;Q14286	FA8_HUMAN;.	R	149;2284	ENSP00000327895:S149R;ENSP00000353393:S2284R	ENSP00000327895:S149R	S	-	3	2	F8	153741949	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	0.846000	0.27682	1.783000	0.52377	0.441000	0.28932	AGT		0.418	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			23	263	0	0	0	0.083992	0	23	263				
PDZK1IP1	10158	broad.mit.edu	37	1	47649678	47649678	+	Frame_Shift_Del	DEL	C	C	-			TCGA-75-6203-01A-11D-1753-08	TCGA-75-6203-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d9cd7f95-07d3-4b87-be83-87340b08d249	fdf9b270-14ff-4961-978e-5dff14d77feb	g.chr1:47649678delC	ENST00000294338.2	-	4	432	c.310delG	c.(310-312)gagfs	p.E106fs	PDZK1IP1_ENST00000491793.1_5'UTR|PDZK1IP1_ENST00000371885.1_Frame_Shift_Del_p.E106fs	NM_005764.3	NP_005755.1	Q13113	PDZ1I_HUMAN	PDZK1 interacting protein 1	106						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(1)|lung(1)|prostate(1)	3						CCTTCCTCCTCGGGCACATTC	0.572																																							uc001cqw.2		NA																	0					0						c.(310-312)GAGfs		PDZK1 interacting protein 1							197.0	130.0	152.0					1																	47649678		2203	4298	6501	SO:0001589	frameshift_variant	10158					integral to membrane		g.chr1:47649678delC	U21049	CCDS546.1	1p33	2008-02-05			ENSG00000162366	ENSG00000162366			16887	protein-coding gene	gene with protein product		607178				9815914, 8701988, 12754212, 12837682	Standard	NM_005764		Approved	DD96, MAP17, SPAP	uc001cqw.3	Q13113	OTTHUMG00000007852	ENST00000294338.2:c.310delG	1.37:g.47649678delC	ENSP00000294338:p.Glu106fs						p.E104fs	NM_005764	NP_005755	Q13113	PDZ1I_HUMAN			4	477	-			104					Q6ICT9|Q96EI1	Frame_Shift_Del	DEL	ENST00000294338.2	37	c.310delG	CCDS546.1																																																																																				0.572	PDZK1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021655.1	NM_005764		2	4	NA	NA	NA	NA	NA	2	4	---	---	---	---
GDF7	151449	broad.mit.edu	37	2	20867303	20867303	+	Frame_Shift_Del	DEL	A	A	-	rs575138523	byFrequency	TCGA-75-6203-01A-11D-1753-08	TCGA-75-6203-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d9cd7f95-07d3-4b87-be83-87340b08d249	fdf9b270-14ff-4961-978e-5dff14d77feb	g.chr2:20867303delA	ENST00000272224.3	+	1	880	c.304delA	c.(304-306)aggfs	p.R102fs		NM_182828.2	NP_878248.2	Q7Z4P5	GDF7_HUMAN	growth differentiation factor 7	102					activin receptor signaling pathway (GO:0032924)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|branching morphogenesis of an epithelial tube (GO:0048754)|cell fate commitment (GO:0045165)|epithelial cell differentiation (GO:0030855)|forebrain morphogenesis (GO:0048853)|gland morphogenesis (GO:0022612)|growth (GO:0040007)|midbrain development (GO:0030901)|morphogenesis of an epithelial fold (GO:0060571)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of tendon cell differentiation (GO:2001051)|positive regulation of transcription, DNA-templated (GO:0045893)|reproductive structure development (GO:0048608)|roof plate formation (GO:0021509)|spinal cord association neuron differentiation (GO:0021527)	extracellular space (GO:0005615)				breast(1)|cervix(1)|endometrium(2)|lung(1)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGGCCGGGAGGGCTCCGGC	0.731																																							uc002rdz.1		NA																	0					0						c.(304-306)AGGfs		growth differentiation factor 7 preproprotein							4.0	5.0	5.0					2																	20867303		2055	4117	6172	SO:0001589	frameshift_variant	151449				activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr2:20867303delA	AF522369	CCDS1701.1	2p24.1	2008-05-22			ENSG00000143869	ENSG00000143869			4222	protein-coding gene	gene with protein product		604651				10022976, 9808626	Standard	NM_182828		Approved	BMP12	uc002rdz.1	Q7Z4P5	OTTHUMG00000090781	ENST00000272224.3:c.304delA	2.37:g.20867303delA	ENSP00000272224:p.Arg102fs						p.R102fs	NM_182828	NP_878248	Q7Z4P5	GDF7_HUMAN			1	880	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		102						Frame_Shift_Del	DEL	ENST00000272224.3	37	c.304delA	CCDS1701.1																																																																																				0.731	GDF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207563.2	NM_182828		2	4	NA	NA	NA	NA	NA	2	4	---	---	---	---
KCNN2	3781	broad.mit.edu	37	5	113699634	113699634	+	Frame_Shift_Del	DEL	T	T	-			TCGA-75-6203-01A-11D-1753-08	TCGA-75-6203-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d9cd7f95-07d3-4b87-be83-87340b08d249	fdf9b270-14ff-4961-978e-5dff14d77feb	g.chr5:113699634delT	ENST00000512097.3	+	3	1536	c.518delT	c.(517-519)cttfs	p.L173fs	KCNN2_ENST00000264773.3_Frame_Shift_Del_p.L173fs|KCNN2_ENST00000507750.1_3'UTR			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	173					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	CTGAAATGCCTTATCAGTCTC	0.483																																							uc003kqo.2		NA																	0				ovary(2)	2						c.(517-519)CTTfs		small conductance calcium-activated potassium							236.0	192.0	207.0					5																	113699634		2202	4300	6502	SO:0001589	frameshift_variant	3781					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr5:113699634delT	AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.518delT	5.37:g.113699634delT	ENSP00000427120:p.Leu173fs						p.L173fs	NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	2	975	+		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)	173			Helical; Name=Segment S2; (Potential).		A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Frame_Shift_Del	DEL	ENST00000512097.3	37	c.518delT	CCDS4114.1																																																																																				0.483	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	NM_021614		10	92	NA	NA	NA	NA	NA	10	92	---	---	---	---
