#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
HUWE1	10075	broad.mit.edu	37	X	53586378	53586378	+	Missense_Mutation	SNP	G	G	C			TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chrX:53586378G>C	ENST00000342160.3	-	56	8309	c.7852C>G	c.(7852-7854)Cgt>Ggt	p.R2618G	MIRLET7F2_ENST00000385277.1_RNA|HUWE1_ENST00000262854.6_Missense_Mutation_p.R2618G			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2618					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TCATCAGAACGGGCGATGATG	0.557																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(7852-7854)Cgt>Ggt		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							92.0	72.0	79.0					X																	53586378		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53586378G>C	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.7852C>G	X.37:g.53586378G>C	ENSP00000340648:p.Arg2618Gly					HUWE1_ENST00000262854.6_Missense_Mutation_p.R2618G	p.R2618G			Q7Z6Z7	HUWE1_HUMAN			56	8309	-			2618					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.7852C>G	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.41|15.41	2.826116|2.826116	0.50739|0.50739	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000427052|ENST00000342160;ENST00000262854	.|T;T	.|0.38722	.|1.12;1.12	5.98|5.98	-3.02|-3.02	0.05446|0.05446	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.44912|0.44912	0.1316|0.1316	N|N	0.14661|0.14661	0.345|0.345	0.46564|0.46564	D|D	0.999107|0.999107	.|D;D	.|0.63046	.|0.987;0.992	.|D;D	.|0.72982	.|0.953;0.979	T|T	0.41770|0.41770	-0.9490|-0.9490	5|10	.|0.59425	.|D	.|0.04	.|.	19.1591|19.1591	0.93524|0.93524	0.0:0.0:0.2285:0.7715|0.0:0.0:0.2285:0.7715	.|.	.|2618;2618	.|Q7Z6Z7;Q7Z6Z7-2	.|HUWE1_HUMAN;.	R|G	1651|2618	.|ENSP00000340648:R2618G;ENSP00000262854:R2618G	.|ENSP00000262854:R2618G	P|R	-|-	2|1	0|0	HUWE1|HUWE1	53603103|53603103	1.000000|1.000000	0.71417|0.71417	0.729000|0.729000	0.30791|0.30791	0.959000|0.959000	0.62525|0.62525	1.631000|1.631000	0.37092|0.37092	-0.739000|-0.739000	0.04809|0.04809	-0.318000|-0.318000	0.08688|0.08688	CCG|CGT		0.557	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		22	8	0	0	0	1	0	22	8				
GJA3	2700	broad.mit.edu	37	13	20717018	20717018	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr13:20717018C>T	ENST00000241125.3	-	2	586	c.410G>A	c.(409-411)gGc>gAc	p.G137D		NM_021954.3	NP_068773.2	Q9Y6H8	CXA3_HUMAN	gap junction protein, alpha 3, 46kDa	137					cell-cell signaling (GO:0007267)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)	gap junction channel activity (GO:0005243)			NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)		GCGCACCCTGCCGCGGTCGTC	0.627																																						ENST00000241125.3																			0				NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						c.(409-411)gGc>gAc		gap junction protein, alpha 3, 46kDa							17.0	17.0	17.0					13																	20717018		2199	4294	6493	SO:0001583	missense	2700				cell-cell signaling|visual perception	connexon complex|integral to membrane		g.chr13:20717018C>T	AF075290	CCDS9289.1	13q12.11	2008-02-05	2007-01-16		ENSG00000121743	ENSG00000121743		"""Ion channels / Gap junction proteins (connexins)"""	4277	protein-coding gene	gene with protein product	"""connexin 46"""	121015	"""gap junction protein, alpha 3, 46kD (connexin 46)"", ""gap junction protein, alpha 3, 46kDa (connexin 46)"""	CZP3		10205266, 7342922	Standard	NM_021954		Approved	CX46	uc001umx.1	Q9Y6H8	OTTHUMG00000016510	ENST00000241125.3:c.410G>A	13.37:g.20717018C>T	ENSP00000241125:p.Gly137Asp						p.G137D	NM_021954.3	NP_068773.2	Q9Y6H8	CXA3_HUMAN		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)	2	586	-		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)	137					Q0VAB7|Q9H537	Missense_Mutation	SNP	ENST00000241125.3	37	c.410G>A	CCDS9289.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.447186	0.63178	.	.	ENSG00000121743	ENST00000241125	D	0.97924	-4.61	5.1	5.1	0.69264	.	0.655352	0.10335	N	0.686980	D	0.98432	0.9478	M	0.76574	2.34	0.80722	D	1	D	0.64830	0.994	P	0.59115	0.852	D	0.97392	0.9990	10	0.42905	T	0.14	.	18.5107	0.90916	0.0:1.0:0.0:0.0	.	137	Q9Y6H8	CXA3_HUMAN	D	137	ENSP00000241125:G137D	ENSP00000241125:G137D	G	-	2	0	GJA3	19615018	1.000000	0.71417	0.408000	0.26446	0.060000	0.15804	5.984000	0.70548	2.387000	0.81309	0.561000	0.74099	GGC		0.627	GJA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044059.3	NM_021954		5	5	0	0	0	1	0	5	5				
RTEL1	51750	broad.mit.edu	37	20	62324513	62324513	+	Missense_Mutation	SNP	C	C	T	rs398123018		TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr20:62324513C>T	ENST00000360203.5	+	30	3194	c.2869C>T	c.(2869-2871)Cgg>Tgg	p.R957W	RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.R957W|RTEL1_ENST00000370003.1_Missense_Mutation_p.R202W|RTEL1_ENST00000318100.4_Missense_Mutation_p.R957W|RTEL1_ENST00000508582.2_Missense_Mutation_p.R981W|RTEL1_ENST00000370018.3_Missense_Mutation_p.R957W					regulator of telomere elongation helicase 1											NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CCAGTTTGTGCGGCCCCACCA	0.597																																						ENST00000318100.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(2869-2871)Cgg>Tgg		regulator of telomere elongation helicase 1							105.0	112.0	110.0					20																	62324513		2198	4293	6491	SO:0001583	missense	51750				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding	g.chr20:62324513C>T	AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"""chromosome 20 open reading frame 41"""	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.2869C>T	20.37:g.62324513C>T	ENSP00000353332:p.Arg957Trp					RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.R957W|RTEL1_ENST00000360203.5_Missense_Mutation_p.R957W|RTEL1_ENST00000370003.1_Missense_Mutation_p.R202W|RTEL1_ENST00000370018.3_Missense_Mutation_p.R957W|RTEL1_ENST00000508582.2_Missense_Mutation_p.R981W	p.R957W			Q9NZ71	RTEL1_HUMAN	Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)		30	3696	+	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		957						Missense_Mutation	SNP	ENST00000360203.5	37	c.2869C>T		.	.	.	.	.	.	.	.	.	.	C	16.46	3.130295	0.56721	.	.	ENSG00000258366	ENST00000370018;ENST00000318100;ENST00000508582;ENST00000360203;ENST00000370003	T;T;T;T;T	0.10668	2.85;2.85;2.85;2.85;2.85	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.33498	0.0865	M	0.71581	2.175	0.54753	D	0.999983	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.996;0.991;0.995	T	0.09596	-1.0667	10	0.87932	D	0	-22.5328	16.6576	0.85232	0.0:1.0:0.0:0.0	.	981;202;957;957	Q9NZ71-7;Q9NZ71-5;Q9NZ71;Q9NZ71-6	.;.;RTEL1_HUMAN;.	W	957;957;981;957;202	ENSP00000359035:R957W;ENSP00000322287:R957W;ENSP00000424307:R981W;ENSP00000353332:R957W;ENSP00000359020:R202W	ENSP00000353332:R957W	R	+	1	2	AL353715.1	61794957	0.995000	0.38212	0.946000	0.38457	0.033000	0.12548	3.313000	0.51935	2.220000	0.72140	0.289000	0.19496	CGG		0.597	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000289781.1	NM_032957		4	106	0	0	0	1	0	4	106				
PLEKHH2	130271	broad.mit.edu	37	2	43926922	43926922	+	Missense_Mutation	SNP	C	C	G			TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr2:43926922C>G	ENST00000282406.4	+	8	935	c.825C>G	c.(823-825)atC>atG	p.I275M		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	275					negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				ATGGTGGCATCTCCCAGAATT	0.502																																						ENST00000282406.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(823-825)atC>atG		pleckstrin homology domain containing, family H (with MyTH4 domain) member 2							78.0	81.0	80.0					2																	43926922		2203	4300	6503	SO:0001583	missense	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43926922C>G	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.825C>G	2.37:g.43926922C>G	ENSP00000282406:p.Ile275Met						p.I275M	NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN			8	935	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	275					Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	c.825C>G	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	C	2.510	-0.313194	0.05422	.	.	ENSG00000152527	ENST00000282406	T	0.72615	-0.67	5.84	-11.7	0.00046	.	1.579480	0.03269	N	0.184490	T	0.46092	0.1375	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.39603	-0.9606	10	0.27785	T	0.31	2.1862	13.2676	0.60144	0.1331:0.3312:0.5357:0.0	.	275;275	Q8IVE3;Q8IVE3-3	PKHH2_HUMAN;.	M	275	ENSP00000282406:I275M	ENSP00000282406:I275M	I	+	3	3	PLEKHH2	43780426	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	-0.854000	0.04299	-2.783000	0.00359	-0.976000	0.02587	ATC		0.502	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		6	31	0	0	0	1	0	6	31				
PDK1	5163	broad.mit.edu	37	2	173451073	173451073	+	Missense_Mutation	SNP	C	C	G			TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr2:173451073C>G	ENST00000282077.3	+	9	1195	c.1013C>G	c.(1012-1014)aCt>aGt	p.T338S	PDK1_ENST00000392571.2_Missense_Mutation_p.T358S|PDK1_ENST00000544863.1_Missense_Mutation_p.T183S|PDK1_ENST00000410055.1_Missense_Mutation_p.T338S|PDK1_ENST00000543905.1_Missense_Mutation_p.T262S			Q15118	PDK1_HUMAN	pyruvate dehydrogenase kinase, isozyme 1	338	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				cell proliferation (GO:0008283)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|hypoxia-inducible factor-1alpha signaling pathway (GO:0097411)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of glucose metabolic process (GO:0010906)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.12)			ATGTATTCAACTGCACCAAGA	0.453									Autosomal Dominant Polycystic Kidney Disease																													ENST00000410055.1																			0				central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16						c.(1012-1014)aCt>aGt		pyruvate dehydrogenase kinase, isozyme 1							133.0	113.0	120.0					2																	173451073		2203	4300	6503	SO:0001583	missense	5163	Autosomal Dominant Polycystic Kidney Disease	Familial Cancer Database	ADPKD	glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|small GTPase mediated signal transduction	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	g.chr2:173451073C>G	L42450	CCDS2250.1, CCDS63059.1	2q31.1	2008-05-23	2005-11-16		ENSG00000152256	ENSG00000152256			8809	protein-coding gene	gene with protein product		602524	"""pyruvate dehydrogenase kinase, isoenzyme 1"""			7499431	Standard	NR_103731		Approved		uc002uhs.3	Q15118	OTTHUMG00000132285	ENST00000282077.3:c.1013C>G	2.37:g.173451073C>G	ENSP00000282077:p.Thr338Ser					PDK1_ENST00000392571.2_Missense_Mutation_p.T358S|PDK1_ENST00000282077.2_Missense_Mutation_p.T338S|PDK1_ENST00000543905.1_Missense_Mutation_p.T262S|PDK1_ENST00000544863.1_Missense_Mutation_p.T183S	p.T338S	NM_002610.3	NP_002601.1	Q15118	PDK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.12)		9	1113	+			338			Histidine kinase.		B2R6T1|B7Z937|D3DPD8|E9PD65|Q308M4	Missense_Mutation	SNP	ENST00000282077.3	37	c.1013C>G	CCDS2250.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.991909	0.93106	.	.	ENSG00000152256	ENST00000543905;ENST00000544863;ENST00000282077;ENST00000392571;ENST00000410055	T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52	5.3	5.3	0.74995	Signal transduction histidine kinase, core (1);ATPase-like, ATP-binding domain (4);	0.000000	0.85682	D	0.000000	T	0.78285	0.4259	M	0.88377	2.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.82587	-0.0383	10	0.72032	D	0.01	-15.3591	18.9633	0.92685	0.0:1.0:0.0:0.0	.	338;358	Q15118;E9PD65	PDK1_HUMAN;.	S	262;183;338;358;338	ENSP00000438567:T262S;ENSP00000437502:T183S;ENSP00000282077:T338S;ENSP00000376352:T358S;ENSP00000386985:T338S	ENSP00000282077:T338S	T	+	2	0	PDK1	173159319	1.000000	0.71417	0.997000	0.53966	0.962000	0.63368	7.746000	0.85057	2.485000	0.83878	0.557000	0.71058	ACT		0.453	PDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255380.3	NM_002610		8	27	0	0	0	1	0	8	27				
DCAF10	79269	broad.mit.edu	37	9	37842147	37842147	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr9:37842147C>A	ENST00000377724.3	+	3	1080	c.715C>A	c.(715-717)Ctg>Atg	p.L239M	RP11-613M10.9_ENST00000540557.1_Intron|DCAF10_ENST00000242323.7_Missense_Mutation_p.L239M	NM_024345.3	NP_077321.3	Q5QP82	DCA10_HUMAN	DDB1 and CUL4 associated factor 10	239					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	12						ACTATGGGATCTGAGAAAATT	0.378																																						ENST00000242323.7																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	12						c.(715-717)Ctg>Atg		DDB1 and CUL4 associated factor 10							162.0	143.0	149.0					9																	37842147		2203	4300	6503	SO:0001583	missense	79269					CUL4 RING ubiquitin ligase complex		g.chr9:37842147C>A	BC003520	CCDS6613.2, CCDS75835.1	9p13.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000122741	ENSG00000122741		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	23686	protein-coding gene	gene with protein product			"""WD repeat domain 32"""	WDR32			Standard	NM_001286810		Approved	MGC10765, FLJ23201	uc004aao.3	Q5QP82	OTTHUMG00000019934	ENST00000377724.3:c.715C>A	9.37:g.37842147C>A	ENSP00000366953:p.Leu239Met					RP11-613M10.9_ENST00000540557.1_Intron|DCAF10_ENST00000377724.3_Missense_Mutation_p.L239M	p.L239M			Q5QP82	DCA10_HUMAN			3	789	+			239					A4VCJ5|Q32NE2|Q8N2Q5|Q96ET5|Q9BTQ5|Q9H5P6	Missense_Mutation	SNP	ENST00000377724.3	37	c.715C>A	CCDS6613.2	.	.	.	.	.	.	.	.	.	.	C	20.1	3.932241	0.73442	.	.	ENSG00000122741	ENST00000377724;ENST00000242323	T;T	0.01705	4.68;4.68	5.49	5.49	0.81192	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.05777	0.0151	L	0.37750	1.13	0.58432	D	0.999998	D;D	0.71674	0.969;0.998	P;P	0.62014	0.648;0.897	T	0.46871	-0.9160	10	0.51188	T	0.08	.	16.8749	0.86050	0.0:1.0:0.0:0.0	.	239;239	Q5QP82-2;Q5QP82	.;DCA10_HUMAN	M	239	ENSP00000366953:L239M;ENSP00000242323:L239M	ENSP00000242323:L239M	L	+	1	2	DCAF10	37832147	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.844000	0.48246	2.591000	0.87537	0.655000	0.94253	CTG		0.378	DCAF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052485.2	NM_024345		21	26	1	0	2.89027e-11	1	3.12621e-11	21	26				
GABRB2	2561	broad.mit.edu	37	5	160972256	160972256	+	Missense_Mutation	SNP	C	C	T	rs375286847		TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr5:160972256C>T	ENST00000393959.1	-	3	213	c.214G>A	c.(214-216)Gat>Aat	p.D72N	GABRB2_ENST00000274547.2_Missense_Mutation_p.D72N|GABRB2_ENST00000517901.1_Missense_Mutation_p.D9N|GABRB2_ENST00000520240.1_Missense_Mutation_p.D72N|GABRB2_ENST00000353437.6_Missense_Mutation_p.D72N|GABRB2_ENST00000517547.1_5'UTR|GABRB2_ENST00000523730.1_5'Flank			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	72					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GAAACCATATCGATGCTGGCA	0.458																																						ENST00000274547.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26						c.(214-216)Gat>Aat		gamma-aminobutyric acid (GABA) A receptor, beta 2	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	C	ASN/ASP,ASN/ASP	0,4406		0,0,2203	72.0	64.0	67.0		214,214	5.4	1.0	5		67	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	GABRB2	NM_000813.2,NM_021911.2	23,23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	72/475,72/513	160972256	1,13005	2203	4300	6503	SO:0001583	missense	0				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity	g.chr5:160972256C>T		CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4082	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 2"""	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.214G>A	5.37:g.160972256C>T	ENSP00000377531:p.Asp72Asn					GABRB2_ENST00000393959.1_Missense_Mutation_p.D72N|GABRB2_ENST00000353437.6_Missense_Mutation_p.D72N|GABRB2_ENST00000517547.1_5'UTR|GABRB2_ENST00000520240.1_Missense_Mutation_p.D72N|GABRB2_ENST00000517901.1_Missense_Mutation_p.D9N	p.D72N	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		4	431	-	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	72					A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Missense_Mutation	SNP	ENST00000393959.1	37	c.214G>A	CCDS4355.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.039620	0.75732	0.0	1.16E-4	ENSG00000145864	ENST00000393959;ENST00000274547;ENST00000353437;ENST00000520240;ENST00000517901	T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1	5.45	5.45	0.79879	Neurotransmitter-gated ion-channel ligand-binding (3);	0.164936	0.53938	D	0.000057	D	0.84288	0.5439	M	0.79614	2.46	0.80722	D	1	P;D;P;P	0.61080	0.5;0.989;0.562;0.566	B;P;B;B	0.50659	0.243;0.647;0.26;0.249	D	0.85180	0.1003	10	0.49607	T	0.09	.	19.6451	0.95773	0.0:1.0:0.0:0.0	.	72;9;72;72	B7Z4P0;E7EV50;P47870;P47870-1	.;.;GBRB2_HUMAN;.	N	72;72;72;72;9	ENSP00000377531:D72N;ENSP00000274547:D72N;ENSP00000274546:D72N;ENSP00000429320:D72N;ENSP00000430532:D9N	ENSP00000274547:D72N	D	-	1	0	GABRB2	160904834	1.000000	0.71417	0.989000	0.46669	0.999000	0.98932	7.628000	0.83189	2.720000	0.93068	0.655000	0.94253	GAT		0.458	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1			4	19	0	0	0	1	0	4	19				
MRPL14	64928	broad.mit.edu	37	6	44084306	44084306	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr6:44084306T>C	ENST00000372014.3	-	2	174	c.43A>G	c.(43-45)Agc>Ggc	p.S15G		NM_032111.2	NP_115487.2	Q6P1L8	RM14_HUMAN	mitochondrial ribosomal protein L14	15					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0181)			AGCACTCTGCTTACACAGGTG	0.463																																						ENST00000372014.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	12						c.(43-45)Agc>Ggc		mitochondrial ribosomal protein L14							97.0	102.0	100.0					6																	44084306		2203	4300	6503	SO:0001583	missense	64928				translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr6:44084306T>C	AB051339	CCDS34460.1	6p21.3	2012-09-13			ENSG00000180992	ENSG00000180992		"""Mitochondrial ribosomal proteins / large subunits"""	14279	protein-coding gene	gene with protein product		611827					Standard	XM_005249300		Approved	RPML32, MRP-L32	uc003owp.3	Q6P1L8	OTTHUMG00000014756	ENST00000372014.3:c.43A>G	6.37:g.44084306T>C	ENSP00000361084:p.Ser15Gly						p.S15G	NM_032111.2	NP_115487.2	Q6P1L8	RM14_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0181)		2	174	-	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		15					B2R575|Q96Q72	Missense_Mutation	SNP	ENST00000372014.3	37	c.43A>G	CCDS34460.1	.	.	.	.	.	.	.	.	.	.	T	2.913	-0.224926	0.06022	.	.	ENSG00000180992	ENST00000372014	.	.	.	5.03	-0.13	0.13498	.	0.608035	0.18092	N	0.151969	T	0.09024	0.0223	L	0.27053	0.805	0.09310	N	1	B	0.19817	0.039	B	0.17433	0.018	T	0.36089	-0.9762	9	0.23891	T	0.37	-9.1529	6.4622	0.21962	0.0:0.2219:0.1247:0.6534	.	15	Q6P1L8	RM14_HUMAN	G	15	.	ENSP00000361084:S15G	S	-	1	0	MRPL14	44192284	0.001000	0.12720	0.002000	0.10522	0.000000	0.00434	0.051000	0.14141	-0.371000	0.08004	-1.255000	0.01485	AGC		0.463	MRPL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040707.1	NM_032111		21	78	0	0	0	1	0	21	78				
LPCAT4	254531	broad.mit.edu	37	15	34653605	34653605	+	Missense_Mutation	SNP	T	T	A			TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr15:34653605T>A	ENST00000314891.6	-	11	1316	c.1139A>T	c.(1138-1140)cAg>cTg	p.Q380L		NM_153613.2	NP_705841.2	Q643R3	LPCT4_HUMAN	lysophosphatidylcholine acyltransferase 4	380					cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkenylglycerophosphoethanolamine O-acyltransferase activity (GO:0047166)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509)|lysophospholipid acyltransferase activity (GO:0071617)			NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						CTTTACCTGCTGGAAGTAGCC	0.562																																						ENST00000314891.6																			0				NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						c.(1138-1140)cAg>cTg		lysophosphatidylcholine acyltransferase 4							84.0	82.0	83.0					15																	34653605		2201	4298	6499	SO:0001583	missense	254531				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|calcium ion binding	g.chr15:34653605T>A	AF542964	CCDS32191.1	15q14	2008-07-02	2008-06-24	2008-06-24		ENSG00000176454			30059	protein-coding gene	gene with protein product	"""lysophosphatidylethanolamine acyltransferase 2"""	612039	"""acyltransferase like 3"", ""1-acylglycerol-3-phosphate O-acyltransferase 7 (lysophosphatidic acid acyltransferase, eta)"""	AYTL3, AGPAT7		8619474, 9110174, 16243729, 18458083	Standard	XR_243087		Approved	FLJ10257, LPAAT-eta, LPEAT2	uc001zig.3	Q643R3		ENST00000314891.6:c.1139A>T	15.37:g.34653605T>A	ENSP00000317300:p.Gln380Leu						p.Q380L	NM_153613.2	NP_705841.2	Q643R3	LPCT4_HUMAN			11	1316	-			380					A8K2K8|O43412|Q7Z4P4|Q8IUL7|Q8TB38	Missense_Mutation	SNP	ENST00000314891.6	37	c.1139A>T	CCDS32191.1	.	.	.	.	.	.	.	.	.	.	T	17.58	3.423885	0.62733	.	.	ENSG00000176454	ENST00000314891	T	0.66995	-0.24	5.62	5.62	0.85841	EF-hand-like domain (1);	0.299341	0.38005	N	0.001852	T	0.53883	0.1824	N	0.22421	0.69	0.39309	D	0.965036	B	0.18166	0.026	B	0.15870	0.014	T	0.55704	-0.8099	10	0.87932	D	0	-6.742	13.3378	0.60528	0.0:0.0:0.0:1.0	.	380	Q643R3	LPCT4_HUMAN	L	380	ENSP00000317300:Q380L	ENSP00000317300:Q380L	Q	-	2	0	LPCAT4	32440897	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.725000	0.61979	2.144000	0.66660	0.454000	0.30748	CAG		0.562	LPCAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418028.2	NM_153613		18	53	0	0	0	1	0	18	53				
ZNF676	163223	broad.mit.edu	37	19	22363008	22363008	+	Missense_Mutation	SNP	C	C	G	rs202153135		TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr19:22363008C>G	ENST00000397121.2	-	3	1828	c.1511G>C	c.(1510-1512)cGc>cCc	p.R504P		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	504					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)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				ACATTTGTAGCGTTTCTCTCC	0.388													G|||	1	0.000199681	0.0008	0.0	5008	,	,		22831	0.0		0.0	False		,,,				2504	0.0					ENST00000397121.2																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67						c.(1510-1512)cGc>cCc		zinc finger protein 676							64.0	69.0	67.0					19																	22363008		2162	4278	6440	SO:0001583	missense	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22363008C>G	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.1511G>C	19.37:g.22363008C>G	ENSP00000380310:p.Arg504Pro						p.R504P	NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN			3	1828	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	504					A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.1511G>C	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.478407	0.00165	.	.	ENSG00000196109	ENST00000397121	T	0.10382	2.88	0.81	-1.62	0.08372	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02571	0.0078	N	0.01431	-0.87	0.21105	N	0.999784	B	0.09022	0.002	B	0.10450	0.005	T	0.39014	-0.9634	9	0.02654	T	1	.	4.9138	0.13835	0.0:0.2226:0.5595:0.2178	.	504	Q8N7Q3	ZN676_HUMAN	P	504	ENSP00000380310:R504P	ENSP00000380310:R504P	R	-	2	0	ZNF676	22154848	0.003000	0.15002	0.050000	0.19076	0.051000	0.14879	0.735000	0.26115	-1.275000	0.02417	-1.271000	0.01417	CGC		0.388	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		6	81	0	0	0	1	0	6	81				
SYMPK	8189	broad.mit.edu	37	19	46347341	46347341	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr19:46347341C>A	ENST00000245934.7	-	8	1038	c.794G>T	c.(793-795)cGc>cTc	p.R265L		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	265					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		GGGTCTCTGGCGGGCGATATT	0.582																																						ENST00000245934.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45						c.(793-795)cGc>cTc		symplekin							123.0	103.0	110.0					19																	46347341		2203	4300	6503	SO:0001583	missense	8189				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	g.chr19:46347341C>A	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.794G>T	19.37:g.46347341C>A	ENSP00000245934:p.Arg265Leu						p.R265L	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	8	1038	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	265					O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	ENST00000245934.7	37	c.794G>T	CCDS12676.2	.	.	.	.	.	.	.	.	.	.	C	36	5.684976	0.96784	.	.	ENSG00000125755	ENST00000245934	T	0.31247	1.5	5.85	5.85	0.93711	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.54983	0.1892	M	0.68593	2.085	0.80722	D	1	D;D	0.64830	0.994;0.984	D;P	0.68353	0.957;0.872	T	0.54296	-0.8315	10	0.72032	D	0.01	.	17.6674	0.88207	0.0:1.0:0.0:0.0	.	280;265	Q4LE61;Q92797	.;SYMPK_HUMAN	L	265	ENSP00000245934:R265L	ENSP00000245934:R265L	R	-	2	0	SYMPK	51039181	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.233000	0.78125	2.767000	0.95098	0.557000	0.71058	CGC		0.582	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819		4	64	1	0	1	1	1	4	64				
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	byFrequency	TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	41								p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A41T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(121-123)Gcc>Acc																																						SO:0001583	missense	0							g.chr20:29625877G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.121G>A	20.37:g.29625877G>A	ENSP00000278882:p.Ala41Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T	p.A41T							5	501	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.121G>A		.	.	.	.	.	.	.	.	.	.	g	8.740	0.918766	0.17982	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.62498	0.02	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	.	.	.	0.52099	D	0.999942	B	0.24186	0.099	B	0.27715	0.082	T	0.43956	-0.9359	9	0.33940	T	0.23	.	9.3557	0.38164	0.0:0.0:1.0:0.0	rs7266938;rs7266938	46	F5H5R5	.	T	41;46;41	ENSP00000408863:A46T	ENSP00000278882:A41T	A	+	1	0	FRG1B	28239538	1.000000	0.71417	0.993000	0.49108	0.033000	0.12548	5.232000	0.65332	1.250000	0.43966	0.184000	0.17185	GCC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		3	51	0	0	0	1	0	3	51				
OR52I2	143502	broad.mit.edu	37	11	4608686	4608686	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr11:4608686C>T	ENST00000312614.4	+	1	666	c.644C>T	c.(643-645)gCc>gTc	p.A215V		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	215						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A215V(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATAGCTTTGGCCAGGTTAGCA	0.512																																						ENST00000312614.4																			1	Substitution - Missense(1)	p.A215V(1)	lung(1)	endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19						c.(643-645)gCc>gTc		olfactory receptor, family 52, subfamily I, member 2							188.0	180.0	183.0					11																	4608686		2201	4298	6499	SO:0001583	missense	143502				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4608686C>T	BK004264	CCDS31355.1	11p15.4	2012-08-09			ENSG00000226288	ENSG00000226288		"""GPCR / Class A : Olfactory receptors"""	15221	protein-coding gene	gene with protein product							Standard	NM_001005170		Approved		uc010qyh.2	Q8NH67	OTTHUMG00000165721	ENST00000312614.4:c.644C>T	11.37:g.4608686C>T	ENSP00000308764:p.Ala215Val						p.A215V	NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	666	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	215					B2RNJ5|B9EKV8|Q6IFJ8	Missense_Mutation	SNP	ENST00000312614.4	37	c.644C>T	CCDS31355.1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.531753	0.27387	.	.	ENSG00000226288	ENST00000312614	T	0.73047	-0.71	4.18	2.2	0.27929	GPCR, rhodopsin-like superfamily (1);	0.156467	0.29830	N	0.011084	T	0.55816	0.1944	L	0.38649	1.16	0.25562	N	0.986986	B	0.25105	0.118	B	0.27796	0.083	T	0.43310	-0.9399	10	0.33141	T	0.24	-8.131	6.4789	0.22051	0.0:0.6645:0.0:0.3355	.	215	Q8NH67	O52I2_HUMAN	V	215	ENSP00000308764:A215V	ENSP00000308764:A215V	A	+	2	0	OR52I2	4565262	0.000000	0.05858	1.000000	0.80357	0.981000	0.71138	-0.170000	0.09897	0.373000	0.24621	-0.149000	0.13747	GCC		0.512	OR52I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385946.1	NM_001005170		4	114	0	0	0	1	0	4	114				
MRPL19	9801	broad.mit.edu	37	2	75881964	75881964	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr2:75881964C>T	ENST00000393909.2	+	5	603	c.578C>T	c.(577-579)gCc>gTc	p.A193V	MRPL19_ENST00000409374.1_Missense_Mutation_p.A193V|MRPL19_ENST00000358788.6_Intron	NM_014763.3	NP_055578.2	P49406	RM19_HUMAN	mitochondrial ribosomal protein L19	193					translation (GO:0006412)	mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(1)|lung(6)	8						TTACGAGATGCCCTTCCTGAA	0.398																																						ENST00000393909.2																			0				kidney(1)|large_intestine(1)|lung(6)	8						c.(577-579)gCc>gTc		mitochondrial ribosomal protein L19							127.0	118.0	121.0					2																	75881964		1870	4102	5972	SO:0001583	missense	9801				translation	mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome	g.chr2:75881964C>T	AB051621	CCDS1960.2	2p11.1-q11.2	2012-09-13			ENSG00000115364	ENSG00000115364		"""Mitochondrial ribosomal proteins / large subunits"""	14052	protein-coding gene	gene with protein product	"""39S ribosomal protein L19"""	611832				11543634, 17309879	Standard	XM_006712155		Approved	MRP-L15, RPML15, KIAA0104, RLX1	uc002snl.3	P49406	OTTHUMG00000129990	ENST00000393909.2:c.578C>T	2.37:g.75881964C>T	ENSP00000377486:p.Ala193Val					MRPL19_ENST00000358788.6_Intron|MRPL19_ENST00000409374.1_Missense_Mutation_p.A193V	p.A193V	NM_014763.3	NP_055578.2	P49406	RM19_HUMAN			5	603	+			193					Q53TX9|Q96Q52	Missense_Mutation	SNP	ENST00000393909.2	37	c.578C>T	CCDS1960.2	.	.	.	.	.	.	.	.	.	.	C	32	5.141240	0.94560	.	.	ENSG00000115364	ENST00000393909;ENST00000409374	.	.	.	5.18	5.18	0.71444	Translation protein SH3-like (1);	0.000000	0.85682	D	0.000000	T	0.78444	0.4284	M	0.71871	2.18	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80266	-0.1454	9	0.66056	D	0.02	-11.94	16.5515	0.84473	0.0:1.0:0.0:0.0	.	193	P49406	RM19_HUMAN	V	193	.	ENSP00000377486:A193V	A	+	2	0	MRPL19	75735472	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.438000	0.80431	2.582000	0.87167	0.563000	0.77884	GCC		0.398	MRPL19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252256.1	NM_014763		3	46	0	0	0	1	0	3	46				
NGF	4803	broad.mit.edu	37	1	115829055	115829055	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr1:115829055C>T	ENST00000369512.2	-	3	530	c.362G>A	c.(361-363)cGg>cAg	p.R121Q	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	121					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|adult locomotory behavior (GO:0008344)|apoptotic signaling pathway (GO:0097190)|circadian rhythm (GO:0007623)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|memory (GO:0007613)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|nerve growth factor processing (GO:0032455)|neuron apoptotic process (GO:0051402)|neuron projection morphogenesis (GO:0048812)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axon extension (GO:0045773)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neurotrophin TRK receptor signaling pathway (GO:0051388)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|Ras protein signal transduction (GO:0007265)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of neurotransmitter secretion (GO:0046928)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to peptide hormone (GO:0043434)|response to radiation (GO:0009314)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)	nerve growth factor receptor binding (GO:0005163)|receptor signaling protein activity (GO:0005057)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	GGATGATGACCGCTTGCTCCT	0.587																																						ENST00000369512.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						c.(361-363)cGg>cAg		nerve growth factor (beta polypeptide)	Clenbuterol(DB01407)						66.0	56.0	60.0					1																	115829055		2203	4300	6503	SO:0001583	missense	4803				activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding	g.chr1:115829055C>T		CCDS882.1	1p13.1	2014-09-17	2008-02-07	2008-02-07	ENSG00000134259	ENSG00000134259		"""Endogenous ligands"""	7808	protein-coding gene	gene with protein product		162030		NGFB			Standard	XM_006710663		Approved		uc001efu.1	P01138	OTTHUMG00000011880	ENST00000369512.2:c.362G>A	1.37:g.115829055C>T	ENSP00000358525:p.Arg121Gln					RP4-663N10.1_ENST00000425449.1_RNA	p.R121Q	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	3	530	-	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)	121					A1A4E5|Q6FHA0|Q96P60|Q9P2Q8|Q9UKL8	Missense_Mutation	SNP	ENST00000369512.2	37	c.362G>A	CCDS882.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.139500	0.77775	.	.	ENSG00000134259	ENST00000369512	T	0.73258	-0.73	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.82751	0.5105	M	0.82823	2.61	0.52501	D	0.999954	D	0.89917	1.0	D	0.69654	0.965	D	0.85343	0.1097	10	0.87932	D	0	-19.7714	17.7237	0.88359	0.0:1.0:0.0:0.0	.	121	P01138	NGF_HUMAN	Q	121	ENSP00000358525:R121Q	ENSP00000358525:R121Q	R	-	2	0	NGF	115630578	1.000000	0.71417	1.000000	0.80357	0.673000	0.39480	4.603000	0.61105	2.548000	0.85928	0.313000	0.20887	CGG		0.587	NGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032832.1	NM_002506		4	25	0	0	0	1	0	4	25				
NPY4R	5540	broad.mit.edu	37	10	47086901	47086901	+	Missense_Mutation	SNP	G	G	A	rs148605550	byFrequency	TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr10:47086901G>A	ENST00000395716.1	+	2	203	c.118G>A	c.(118-120)Gtg>Atg	p.V40M	NPY4R_ENST00000374312.1_Missense_Mutation_p.V40M			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	40					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)										TTCCGTGGACGTGATGGTCTT	0.532													g|||	2	0.000399361	0.0008	0.0014	5008	,	,		44946	0.0		0.0	False		,,,				2504	0.0					ENST00000374312.1																			0											c.(118-120)Gtg>Atg		neuropeptide Y receptor Y4		G	MET/VAL	6,4400	11.4+/-27.6	0,6,2197	223.0	196.0	205.0		118	-0.4	0.0	10	dbSNP_134	205	2,8598	2.2+/-6.3	0,2,4298	yes	missense	PPYR1	NM_005972.4	21	0,8,6495	AA,AG,GG		0.0233,0.1362,0.0615	benign	40/376	47086901	8,12998	2203	4300	6503	SO:0001583	missense	0							g.chr10:47086901G>A		CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"""GPCR / Class A : Neuropeptide receptors : Y"""	9329	protein-coding gene	gene with protein product		601790	"""pancreatic polypeptide receptor 1"""	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.118G>A	10.37:g.47086901G>A	ENSP00000379066:p.Val40Met					NPY4R_ENST00000395716.1_Missense_Mutation_p.V40M	p.V40M	NM_005972.4	NP_005963.3					3	537	+								Q13456|Q5ISU3|Q5T2X9|Q6FH06	Missense_Mutation	SNP	ENST00000395716.1	37	c.118G>A	CCDS31193.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	g	0.004	-2.332753	0.00227	0.001362	2.33E-4	ENSG00000204174	ENST00000374312;ENST00000395716	T;T	0.38240	1.15;1.15	4.78	-0.372	0.12520	.	1.089070	0.06827	N	0.793310	T	0.11495	0.0280	N	0.02011	-0.69	0.09310	N	1	B	0.17268	0.021	B	0.09377	0.004	T	0.22068	-1.0227	10	0.18276	T	0.48	.	1.383	0.02234	0.267:0.3228:0.2531:0.1572	.	40	P50391	NPY4R_HUMAN	M	40	ENSP00000363431:V40M;ENSP00000379066:V40M	ENSP00000363431:V40M	V	+	1	0	PPYR1	46506907	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.082000	0.14847	-0.158000	0.11040	-2.367000	0.00236	GTG		0.532	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047837.1			17	76	0	0	0	1	0	17	76				
PRDM8	56978	broad.mit.edu	37	4	81123237	81123237	+	Silent	SNP	C	C	T			TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr4:81123237C>T	ENST00000504452.1	+	8	1460	c.621C>T	c.(619-621)ggC>ggT	p.G207G	PRDM8_ENST00000339711.4_Silent_p.G207G|PRDM8_ENST00000415738.2_Silent_p.G207G			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	207	Gly-rich.				corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						gcggcggcggcggtggcaaag	0.657											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000339711.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						c.(619-621)ggC>ggT		PR domain containing 8							24.0	31.0	29.0					4																	81123237		2009	4173	6182	SO:0001819	synonymous_variant	56978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:81123237C>T	AF275815	CCDS43243.1	4q21	2008-08-21				ENSG00000152784			13993	protein-coding gene	gene with protein product							Standard	NM_020226		Approved		uc003hmc.4	Q9NQV8		ENST00000504452.1:c.621C>T	4.37:g.81123237C>T			OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1203	PRDM8_ENST00000415738.2_Silent_p.G207G|PRDM8_ENST00000504452.1_Silent_p.G207G	p.G207G	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN			10	1852	+			207			Gly-rich.		A8K7X2|Q6IQ36	Silent	SNP	ENST00000504452.1	37	c.621C>T	CCDS43243.1																																																																																				0.657	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362793.1			4	85	0	0	0	1	0	4	85				
NUDCD2	134492	broad.mit.edu	37	5	162886970	162886970	+	Silent	SNP	G	G	A			TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr5:162886970G>A	ENST00000302764.4	-	1	176	c.87C>T	c.(85-87)ttC>ttT	p.F29F	HMMR_ENST00000358715.3_5'Flank|NUDCD2_ENST00000519395.1_5'Flank|HMMR_ENST00000393915.4_5'Flank|NUDCD2_ENST00000517501.1_Silent_p.F29F|HMMR_ENST00000432118.2_5'Flank|HMMR_ENST00000353866.3_5'Flank	NM_145266.4	NP_660309.1	Q8WVJ2	NUDC2_HUMAN	NudC domain containing 2	29	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)				large_intestine(1)|prostate(1)	2	Renal(175;0.000281)	Medulloblastoma(196;0.0207)|all_neural(177;0.0966)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0981)|OV - Ovarian serous cystadenocarcinoma(192;0.183)|Epithelial(171;0.247)		GAACTTCAATGAACACCTCCT	0.667																																						ENST00000302764.4																			0				large_intestine(1)|prostate(1)	2						c.(85-87)ttC>ttT		NudC domain containing 2							79.0	94.0	89.0					5																	162886970		2203	4300	6503	SO:0001819	synonymous_variant	134492					intracellular		g.chr5:162886970G>A	BX538290	CCDS4361.1	5q34	2008-02-05			ENSG00000170584	ENSG00000170584			30535	protein-coding gene	gene with protein product							Standard	NM_145266		Approved	DKFZp686E10109	uc003lze.3	Q8WVJ2	OTTHUMG00000130378	ENST00000302764.4:c.87C>T	5.37:g.162886970G>A						NUDCD2_ENST00000517501.1_Silent_p.F29F	p.F29F	NM_145266.4	NP_660309.1	Q8WVJ2	NUDC2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0981)|OV - Ovarian serous cystadenocarcinoma(192;0.183)|Epithelial(171;0.247)	1	176	-	Renal(175;0.000281)	Medulloblastoma(196;0.0207)|all_neural(177;0.0966)	29			CS.		B2R4V0	Silent	SNP	ENST00000302764.4	37	c.87C>T	CCDS4361.1																																																																																				0.667	NUDCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252747.3	NM_145266		45	102	0	0	0	1	0	45	102				
CRHR2	1395	broad.mit.edu	37	7	30721796	30721796	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr7:30721796T>C	ENST00000471646.1	-	1	518	c.101A>G	c.(100-102)gAg>gGg	p.E34G	CRHR2_ENST00000348438.4_Intron|CRHR2_ENST00000341843.4_Intron|CRHR2_ENST00000506074.2_Missense_Mutation_p.E34G	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	34					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of cAMP-mediated signaling (GO:0043950)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotrophin-releasing factor receptor activity (GO:0015056)			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CCGCCTACCCTCGGGGTCCAG	0.741																																						ENST00000471646.1																			0				breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(100-102)gAg>gGg		corticotropin releasing hormone receptor 2							7.0	9.0	9.0					7																	30721796		2163	4243	6406	SO:0001583	missense	1395				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	g.chr7:30721796T>C		CCDS5429.1, CCDS56477.1, CCDS56478.1, CCDS75576.1	7p21-p15	2012-08-10			ENSG00000106113	ENSG00000106113		"""GPCR / Class B : Corticotropin-releasing factor receptors"""	2358	protein-coding gene	gene with protein product		602034				8536644	Standard	NM_001883		Approved	CRF2, CRF-RB, HM-CRF	uc003tbp.3	Q13324	OTTHUMG00000023218	ENST00000471646.1:c.101A>G	7.37:g.30721796T>C	ENSP00000418722:p.Glu34Gly					CRHR2_ENST00000341843.4_Intron|CRHR2_ENST00000506074.2_Missense_Mutation_p.E34G|CRHR2_ENST00000348438.4_Intron	p.E34G	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN			1	518	-			34					B2R967|B3SXS6|B3SXS7|B3SXS8|B3SXT0|F8WA81|O43461|Q4QRJ4|Q99431	Missense_Mutation	SNP	ENST00000471646.1	37	c.101A>G	CCDS5429.1	.	.	.	.	.	.	.	.	.	.	T	14.95	2.689382	0.48097	.	.	ENSG00000106113	ENST00000471646;ENST00000506074	T;T	0.55413	0.52;0.52	4.45	4.45	0.53987	GPCR, family 2, extracellular hormone receptor domain (1);	.	.	.	.	T	0.31765	0.0807	N	0.08118	0	0.22366	N	0.999164	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.11446	-1.0587	9	0.31617	T	0.26	.	10.3273	0.43801	0.0:0.0:0.0:1.0	.	34;34;34	B3SXT0;B3SXS6;Q13324	.;.;CRFR2_HUMAN	G	34	ENSP00000418722:E34G;ENSP00000426498:E34G	ENSP00000418722:E34G	E	-	2	0	CRHR2	30688321	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	0.854000	0.27791	2.007000	0.58848	0.460000	0.39030	GAG		0.741	CRHR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250448.3			4	7	0	0	0	1	0	4	7				
MYH7	4625	broad.mit.edu	37	14	23887583	23887583	+	Silent	SNP	C	C	T	rs144465613	byFrequency	TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr14:23887583C>T	ENST00000355349.3	-	30	4167	c.4005G>A	c.(4003-4005)tcG>tcA	p.S1335S	CTD-2201G16.1_ENST00000557368.1_RNA|MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1335					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.S1335S(3)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CATGCCGGGCCGACTGCAGTG	0.662													C|||	3	0.000599042	0.0023	0.0	5008	,	,		18907	0.0		0.0	False		,,,				2504	0.0					ENST00000355349.3																			3	Substitution - coding silent(3)	p.S1335S(3)	central_nervous_system(2)|lung(1)	NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(4003-4005)tcG>tcA		myosin, heavy chain 7, cardiac muscle, beta		C		9,4397	15.5+/-35.6	0,9,2194	35.0	34.0	34.0		4005	-9.9	0.2	14	dbSNP_134	34	0,8600		0,0,4300	no	coding-synonymous	MYH7	NM_000257.2		0,9,6494	TT,TC,CC		0.0,0.2043,0.0692		1335/1936	23887583	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23887583C>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4005G>A	14.37:g.23887583C>T							p.S1335S	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	30	4167	-	all_cancers(95;2.54e-05)		1335					A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	c.4005G>A	CCDS9601.1																																																																																				0.662	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		3	43	0	0	0	1	0	3	43				
KCNH4	23415	broad.mit.edu	37	17	40321507	40321507	+	Silent	SNP	G	G	A			TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr17:40321507G>A	ENST00000264661.3	-	9	1910	c.1578C>T	c.(1576-1578)atC>atT	p.I526I	KCNH4_ENST00000607371.1_Silent_p.I526I	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	526					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CGTTGGCGTCGATGCCGCTGT	0.637																																					NSCLC(117;707 1703 2300 21308 31858)	ENST00000264661.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32						c.(1576-1578)atC>atT		potassium voltage-gated channel, subfamily H (eag-related), member 4							68.0	66.0	67.0					17																	40321507		2203	4300	6503	SO:0001819	synonymous_variant	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40321507G>A	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.1578C>T	17.37:g.40321507G>A						KCNH4_ENST00000607371.1_Silent_p.I526I	p.I526I	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	9	1910	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	526						Silent	SNP	ENST00000264661.3	37	c.1578C>T	CCDS11420.1																																																																																				0.637	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		9	25	0	0	0	1	0	9	25				
DGKA	1606	broad.mit.edu	37	12	56334139	56334139	+	Silent	SNP	G	G	A			TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr12:56334139G>A	ENST00000331886.5	+	11	1294	c.840G>A	c.(838-840)ggG>ggA	p.G280G	DGKA_ENST00000551156.1_Silent_p.G280G|DGKA_ENST00000394147.1_Silent_p.G280G|DGKA_ENST00000549079.2_3'UTR	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	280					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	GTGAGTCCGGGCGCTGCGACC	0.587											OREG0021913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000331886.5																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25						c.(838-840)ggG>ggA		diacylglycerol kinase, alpha 80kDa	Vitamin E(DB00163)						117.0	112.0	114.0					12																	56334139		2203	4300	6503	SO:0001819	synonymous_variant	1606				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr12:56334139G>A	AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"""EF-hand domain containing"""	2849	protein-coding gene	gene with protein product		125855	"""diacylglycerol kinase, alpha (80kD)"""	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.840G>A	12.37:g.56334139G>A			OREG0021913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1014	DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000551156.1_Silent_p.G280G|DGKA_ENST00000394147.1_Silent_p.G280G	p.G280G	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN			11	1294	+			280					O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Silent	SNP	ENST00000331886.5	37	c.840G>A	CCDS8896.1																																																																																				0.587	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407291.1			30	57	0	0	0	1	0	30	57				
ZBBX	79740	broad.mit.edu	37	3	167031818	167031818	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr3:167031818T>C	ENST00000392766.2	-	16	1701	c.1361A>G	c.(1360-1362)gAc>gGc	p.D454G	ZBBX_ENST00000392764.1_Missense_Mutation_p.D425G|ZBBX_ENST00000392767.2_Missense_Mutation_p.D454G|ZBBX_ENST00000469220.1_5'Flank|ZBBX_ENST00000455345.2_Missense_Mutation_p.D454G|ZBBX_ENST00000307529.5_Missense_Mutation_p.D454G	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	454						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						ATTTAAGAAGTCTCTCTTTCC	0.328																																						ENST00000392766.2																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(1360-1362)gAc>gGc		zinc finger, B-box domain containing							131.0	122.0	125.0					3																	167031818		1823	4080	5903	SO:0001583	missense	79740					intracellular	zinc ion binding	g.chr3:167031818T>C	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.1361A>G	3.37:g.167031818T>C	ENSP00000376519:p.Asp454Gly					ZBBX_ENST00000392764.1_Missense_Mutation_p.D425G|ZBBX_ENST00000455345.2_Missense_Mutation_p.D454G|ZBBX_ENST00000307529.5_Missense_Mutation_p.D454G|ZBBX_ENST00000392767.2_Missense_Mutation_p.D454G	p.D454G	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN			16	1701	-			454					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	ENST00000392766.2	37	c.1361A>G	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	T	5.982	0.365118	0.11296	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.12569	2.85;2.85;2.83;2.83;2.67	5.14	3.95	0.45737	.	0.607736	0.16173	N	0.226202	T	0.16041	0.0386	L	0.53249	1.67	0.22947	N	0.998523	P;P	0.44946	0.846;0.761	B;B	0.43445	0.42;0.24	T	0.08911	-1.0699	10	0.54805	T	0.06	-1.5651	8.3006	0.32012	0.1764:0.0:0.0:0.8236	.	454;454	A8MT70-2;A8MT70	.;ZBBX_HUMAN	G	454;454;454;454;425	ENSP00000376519:D454G;ENSP00000376520:D454G;ENSP00000390232:D454G;ENSP00000305065:D454G;ENSP00000376517:D425G	ENSP00000305065:D454G	D	-	2	0	ZBBX	168514512	0.014000	0.17966	0.056000	0.19401	0.004000	0.04260	0.846000	0.27682	0.856000	0.35383	0.533000	0.62120	GAC		0.328	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		4	175	0	0	0	1	0	4	175				
WDSUB1	151525	broad.mit.edu	37	2	160105008	160105008	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr2:160105008C>A	ENST00000409990.3	-	10	1404	c.1148G>T	c.(1147-1149)cGt>cTt	p.R383L	WDSUB1_ENST00000409124.1_Intron|WDSUB1_ENST00000358147.4_Missense_Mutation_p.R291L|WDSUB1_ENST00000392796.3_Missense_Mutation_p.R383L|WDSUB1_ENST00000359774.4_Missense_Mutation_p.R383L	NM_001128213.1	NP_001121685	Q8N9V3	WSDU1_HUMAN	WD repeat, sterile alpha motif and U-box domain containing 1	383	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.						ubiquitin-protein transferase activity (GO:0004842)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						CACTTTACTACGCAGTCCTAG	0.363																																						ENST00000409990.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						c.(1147-1149)cGt>cTt		WD repeat, sterile alpha motif and U-box domain containing 1							85.0	87.0	87.0					2																	160105008		2202	4300	6502	SO:0001583	missense	151525					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr2:160105008C>A	AK093494	CCDS2208.1	2q24.2	2013-01-28	2006-02-17	2005-03-25	ENSG00000196151	ENSG00000196151		"""WD repeat domain containing"", ""Sterile alpha motif (SAM) domain containing"", ""U-box domain containing"""	26697	protein-coding gene	gene with protein product			"""WD repeat and SAM domain containing 1"", ""WD repeat, SAM and U-box domain containing 1"""	WDSAM1		12477932	Standard	NM_152528		Approved	UBOX6, FLJ36175	uc002ual.4	Q8N9V3	OTTHUMG00000132028	ENST00000409990.3:c.1148G>T	2.37:g.160105008C>A	ENSP00000387078:p.Arg383Leu					WDSUB1_ENST00000409124.1_Intron|WDSUB1_ENST00000392796.3_Missense_Mutation_p.R383L|WDSUB1_ENST00000359774.4_Missense_Mutation_p.R383L|WDSUB1_ENST00000358147.4_Missense_Mutation_p.R291L	p.R383L	NM_001128213.1	NP_001121685.1	Q8N9V3	WSDU1_HUMAN			10	1404	-			383			SAM.		Q53TI9|Q8N6N8	Missense_Mutation	SNP	ENST00000409990.3	37	c.1148G>T	CCDS2208.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.016757	0.75161	.	.	ENSG00000196151	ENST00000359774;ENST00000358147;ENST00000392796;ENST00000409990	D;D;D;D	0.90900	-2.75;-2.75;-2.75;-2.75	5.97	4.19	0.49359	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.050565	0.85682	D	0.000000	D	0.95865	0.8654	M	0.91406	3.205	0.80722	D	1	D;D	0.89917	0.973;1.0	P;D	0.76575	0.769;0.988	D	0.95888	0.8904	10	0.72032	D	0.01	.	12.8332	0.57759	0.0:0.8706:0.0:0.1294	.	291;383	Q8N9V3-2;Q8N9V3	.;WSDU1_HUMAN	L	383;291;383;383	ENSP00000352820:R383L;ENSP00000350866:R291L;ENSP00000376545:R383L;ENSP00000387078:R383L	ENSP00000350866:R291L	R	-	2	0	WDSUB1	159813254	1.000000	0.71417	0.967000	0.41034	0.947000	0.59692	7.422000	0.80217	0.877000	0.35895	-0.781000	0.03364	CGT		0.363	WDSUB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333339.1	NM_152528		3	49	1	0	1	1	1	3	49				
ABCC12	94160	broad.mit.edu	37	16	48158140	48158140	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr16:48158140G>T	ENST00000311303.3	-	10	1916	c.1571C>A	c.(1570-1572)gCa>gAa	p.A524E	ABCC12_ENST00000448542.1_Missense_Mutation_p.A524E|ABCC12_ENST00000416054.1_Missense_Mutation_p.A524E	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	524	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TAGGAGAGCTGCAAGGAGGGA	0.517																																						ENST00000311303.3																			0				NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90						c.(1570-1572)gCa>gAa		ATP-binding cassette, sub-family C (CFTR/MRP), member 12							249.0	231.0	237.0					16																	48158140		2201	4300	6501	SO:0001583	missense	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48158140G>T	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.1571C>A	16.37:g.48158140G>T	ENSP00000311030:p.Ala524Glu					ABCC12_ENST00000416054.1_Missense_Mutation_p.A524E|ABCC12_ENST00000448542.1_Missense_Mutation_p.A524E	p.A524E	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN			10	1916	-		all_cancers(37;0.0474)|all_lung(18;0.047)	524			ABC transporter 1.		Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	37	c.1571C>A	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.154373	0.78114	.	.	ENSG00000140798	ENST00000311303;ENST00000448542;ENST00000449939;ENST00000416054	D;D;D	0.93811	-3.29;-3.29;-3.29	5.53	5.53	0.82687	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.122356	0.56097	D	0.000023	D	0.90390	0.6992	L	0.33753	1.03	0.44728	D	0.997721	P;B	0.36412	0.552;0.293	B;B	0.36766	0.209;0.232	D	0.90987	0.4832	10	0.87932	D	0	.	18.2251	0.89914	0.0:0.0:1.0:0.0	.	524;524	Q96J65-2;Q96J65	.;MRP9_HUMAN	E	524;524;466;524	ENSP00000311030:A524E;ENSP00000401855:A524E;ENSP00000413046:A524E	ENSP00000311030:A524E	A	-	2	0	ABCC12	46715641	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.084000	0.57650	2.583000	0.87209	0.650000	0.86243	GCA		0.517	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		4	124	1	0	2.56e-06	1	2.66039e-06	4	124				
HMCN1	83872	broad.mit.edu	37	1	186105941	186105941	+	Missense_Mutation	SNP	G	G	A	rs374051668		TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr1:186105941G>A	ENST00000271588.4	+	87	13683	c.13454G>A	c.(13453-13455)cGg>cAg	p.R4485Q	HMCN1_ENST00000367492.2_Missense_Mutation_p.R4485Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4485	Ig-like C2-type 44.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGGGATGACCGGGTTAACGTG	0.433																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(13453-13455)cGg>cAg		hemicentin 1							107.0	111.0	110.0					1																	186105941		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186105941G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.13454G>A	1.37:g.186105941G>A	ENSP00000271588:p.Arg4485Gln					HMCN1_ENST00000367492.2_Missense_Mutation_p.R4485Q	p.R4485Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			87	13683	+			4485			Ig-like C2-type 44.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.13454G>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.967589	0.74131	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.37411	1.2;1.2	5.19	5.19	0.71726	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.055113	0.64402	D	0.000001	T	0.63674	0.2531	M	0.80508	2.5	0.47547	D	0.999454	D	0.89917	1.0	D	0.79784	0.993	T	0.64032	-0.6502	10	0.41790	T	0.15	.	19.08	0.93178	0.0:0.0:1.0:0.0	.	4485	Q96RW7	HMCN1_HUMAN	Q	4485	ENSP00000271588:R4485Q;ENSP00000356462:R4485Q	ENSP00000271588:R4485Q	R	+	2	0	HMCN1	184372564	1.000000	0.71417	0.891000	0.34965	0.283000	0.27025	6.001000	0.70685	2.587000	0.87381	0.655000	0.94253	CGG		0.433	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		13	36	0	0	0	1	0	13	36				
PSG3	5671	broad.mit.edu	37	19	43233377	43233377	+	Missense_Mutation	SNP	T	T	A			TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr19:43233377T>A	ENST00000327495.5	-	5	1325	c.1141A>T	c.(1141-1143)Atc>Ttc	p.I381F	PSG3_ENST00000595140.1_Missense_Mutation_p.I381F	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	381	Ig-like C2-type 3.			Missing (in Ref. 9). {ECO:0000305}.	defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				ATCTGGGGGATAAAGAGCTTT	0.458																																						ENST00000327495.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(1141-1143)Atc>Ttc		pregnancy specific beta-1-glycoprotein 3							191.0	199.0	196.0					19																	43233377		2203	4300	6503	SO:0001583	missense	5671				defense response|female pregnancy	extracellular region		g.chr19:43233377T>A		CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.1141A>T	19.37:g.43233377T>A	ENSP00000332215:p.Ile381Phe					PSG3_ENST00000595140.1_Missense_Mutation_p.I381F	p.I381F	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN			5	1325	-		Prostate(69;0.00682)	381	Missing (in Ref. 9).		Ig-like C2-type 3.		Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Missense_Mutation	SNP	ENST00000327495.5	37	c.1141A>T	CCDS12611.1	.	.	.	.	.	.	.	.	.	.	N	10.30	1.312910	0.23908	.	.	ENSG00000221826	ENST00000327495	T	0.50001	0.76	0.768	-0.45	0.12223	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.58652	0.2137	M	0.66560	2.04	0.09310	N	1	D;P	0.76494	0.999;0.93	D;P	0.97110	1.0;0.861	T	0.47749	-0.9093	9	0.87932	D	0	.	2.9796	0.05949	0.0:0.3329:0.0:0.6671	.	381;381	P11464-2;Q16557	.;PSG3_HUMAN	F	381	ENSP00000332215:I381F	ENSP00000332215:I381F	I	-	1	0	PSG3	47925217	0.000000	0.05858	0.005000	0.12908	0.002000	0.02628	-0.558000	0.05978	-0.248000	0.09583	-0.563000	0.04171	ATC		0.458	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2	NM_021016		17	188	0	0	0	1	0	17	188				
AGBL1	123624	broad.mit.edu	37	15	86838595	86838595	+	Missense_Mutation	SNP	C	C	T	rs376945285		TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr15:86838595C>T	ENST00000441037.2	+	16	2287	c.2192C>T	c.(2191-2193)aCg>aTg	p.T731M	AGBL1_ENST00000421325.2_Missense_Mutation_p.T731M|AGBL1_ENST00000389298.3_Missense_Mutation_p.T462M|AGBL1-AS1_ENST00000566878.1_RNA|AGBL1-AS1_ENST00000564487.1_RNA	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	731					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GTGACCATCACGGCCATGCCT	0.498																																						ENST00000441037.2																			0				NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						c.(2191-2193)aCg>aTg		ATP/GTP binding protein-like 1		C	MET/THR	0,3996		0,0,1998	109.0	109.0	109.0		2192	5.4	1.0	15		109	2,8352		0,2,4175	no	missense	AGBL1	NM_152336.2	81	0,2,6173	TT,TC,CC		0.0239,0.0,0.0162	probably-damaging	731/1067	86838595	2,12348	1998	4177	6175	SO:0001583	missense	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:86838595C>T	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.2192C>T	15.37:g.86838595C>T	ENSP00000413001:p.Thr731Met					AGBL1_ENST00000421325.2_Missense_Mutation_p.T731M|AGBL1_ENST00000389298.3_Missense_Mutation_p.T462M	p.T731M	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN			16	2287	+			731					A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	c.2192C>T	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.660748	0.88154	0.0	2.39E-4	ENSG00000166748	ENST00000441037;ENST00000421325;ENST00000389298	T;T	0.13089	2.62;2.62	5.42	5.42	0.78866	Peptidase M14, carboxypeptidase A (1);	0.059511	0.64402	D	0.000005	T	0.50599	0.1625	H	0.94658	3.565	0.44807	D	0.997815	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.984	T	0.64127	-0.6480	10	0.87932	D	0	-13.2836	17.067	0.86562	0.0:1.0:0.0:0.0	.	430;462;731	Q96MI9-2;Q96MI9-3;Q96MI9	.;.;CBPC4_HUMAN	M	760;731;462	ENSP00000397173:T731M;ENSP00000373949:T462M	ENSP00000373949:T462M	T	+	2	0	AGBL1	84639599	1.000000	0.71417	0.973000	0.42090	0.977000	0.68977	6.328000	0.72915	2.687000	0.91594	0.650000	0.86243	ACG		0.498	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		32	46	0	0	0	1	0	32	46				
GJA5	2702	broad.mit.edu	37	1	147230323	147230323	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr1:147230323G>A	ENST00000271348.2	-	2	1185	c.1024C>T	c.(1024-1026)Cga>Tga	p.R342*	GJA5_ENST00000369237.1_Nonsense_Mutation_p.R342*|RP11-433J22.2_ENST00000428911.1_RNA	NM_005266.5	NP_005257.2	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	342					angiogenesis (GO:0001525)|artery morphogenesis (GO:0048844)|atrial cardiac muscle cell action potential (GO:0086014)|atrial septum development (GO:0003283)|AV node cell to bundle of His cell communication by electrical coupling (GO:0086053)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|gap junction assembly (GO:0016264)|mitral valve development (GO:0003174)|outflow tract morphogenesis (GO:0003151)|pulmonary valve formation (GO:0003193)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|transmembrane transport (GO:0055085)|ventricular septum development (GO:0003281)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)	gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling (GO:0086077)|gap junction channel activity involved in cardiac conduction electrical coupling (GO:0086075)|gap junction hemi-channel activity (GO:0055077)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			CTAAGACGTCGCTTGTCACTA	0.547																																						ENST00000271348.2																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20						c.(1024-1026)Cga>Tga		gap junction protein, alpha 5, 40kDa							121.0	111.0	114.0					1																	147230323		2203	4300	6503	SO:0001587	stop_gained	2702				angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane		g.chr1:147230323G>A		CCDS929.1	1q21.1	2008-02-05	2007-01-16		ENSG00000143140	ENSG00000265107		"""Ion channels / Gap junction proteins (connexins)"""	4279	protein-coding gene	gene with protein product	"""connexin 40"""	121013	"""gap junction protein, alpha 5, 40kD (connexin 40)"", ""gap junction protein, alpha 5, 40kDa (connexin 40)"""				Standard	NM_005266		Approved	CX40	uc001eps.1	P36382	OTTHUMG00000014020	ENST00000271348.2:c.1024C>T	1.37:g.147230323G>A	ENSP00000271348:p.Arg342*					RP11-433J22.2_ENST00000428911.1_RNA|GJA5_ENST00000369237.1_Nonsense_Mutation_p.R342*	p.R342*	NM_005266.5|NM_181703.2	NP_005257.2|NP_859054.1	P36382	CXA5_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.202)		2	1185	-	all_hematologic(923;0.0276)		342					Q5T3B6|Q5U0N6	Nonsense_Mutation	SNP	ENST00000271348.2	37	c.1024C>T	CCDS929.1	.	.	.	.	.	.	.	.	.	.	G	37	6.431687	0.97564	.	.	ENSG00000143140	ENST00000271348;ENST00000369237	.	.	.	5.38	4.47	0.54385	.	0.525983	0.18729	N	0.132788	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.2797	0.66202	0.0708:0.0:0.9292:0.0	.	.	.	.	X	342	.	ENSP00000271348:R342X	R	-	1	2	GJA5	145696947	1.000000	0.71417	0.888000	0.34837	0.876000	0.50452	5.919000	0.70005	1.509000	0.48786	0.655000	0.94253	CGA		0.547	GJA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039422.2	NM_181703		19	46	0	0	0	1	0	19	46				
ZNF33A	7581	broad.mit.edu	37	10	38343641	38343641	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr10:38343641A>G	ENST00000458705.2	+	5	744	c.586A>G	c.(586-588)Agg>Ggg	p.R196G	ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000374618.3_Missense_Mutation_p.R197G|ZNF33A_ENST00000432900.2_Missense_Mutation_p.R203G|ZNF33A_ENST00000307441.9_Missense_Mutation_p.R196G			Q06730	ZN33A_HUMAN	zinc finger protein 33A	196					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						TTTGAAAAATAGGAACACACT	0.343																																						ENST00000374618.3																			0				cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						c.(589-591)Agg>Ggg		zinc finger protein 33A							74.0	73.0	74.0					10																	38343641		2203	4300	6503	SO:0001583	missense	7581					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38343641A>G	D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"""Zinc fingers, C2H2-type"", ""-"""	13096	protein-coding gene	gene with protein product	"""zinc finger and ZAK associated protein with KRAB domain"""	194521	"""zinc finger protein 33a (KOX 31)"", ""zinc finger protein 11A"""	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.586A>G	10.37:g.38343641A>G	ENSP00000387713:p.Arg196Gly					ZNF33A_ENST00000458705.2_Missense_Mutation_p.R196G|ZNF33A_ENST00000307441.9_Missense_Mutation_p.R196G|ZNF33A_ENST00000432900.2_Missense_Mutation_p.R203G|ZNF33A_ENST00000469037.2_Intron	p.R197G	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN			5	767	+			196					A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Missense_Mutation	SNP	ENST00000458705.2	37	c.589A>G	CCDS31182.1	.	.	.	.	.	.	.	.	.	.	A	0.015	-1.556038	0.00910	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000307441	T;T;T;T	0.05382	3.47;3.46;3.45;3.45	1.68	-1.01	0.10169	.	1.059130	0.07481	N	0.903965	T	0.01870	0.0059	N	0.01505	-0.83	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.06405	0.002;0.001;0.002	T	0.44467	-0.9326	10	0.02654	T	1	.	6.1451	0.20280	0.3508:0.0:0.6491:0.0	.	203;196;197	F6TH33;Q06730;F8WAJ5	.;ZN33A_HUMAN;.	G	197;203;196;196	ENSP00000363747:R197G;ENSP00000402467:R203G;ENSP00000387713:R196G;ENSP00000304268:R196G	ENSP00000304268:R196G	R	+	1	2	ZNF33A	38383647	0.891000	0.30450	0.001000	0.08648	0.022000	0.10575	0.939000	0.28978	-0.265000	0.09352	0.377000	0.23210	AGG		0.343	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974		21	28	0	0	0	1	0	21	28				
ADAMTS9	56999	broad.mit.edu	37	3	64601793	64601793	+	Missense_Mutation	SNP	C	C	T	rs113699218	byFrequency	TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr3:64601793C>T	ENST00000498707.1	-	20	3209	c.2867G>A	c.(2866-2868)cGc>cAc	p.R956H	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R928H	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	956	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GTCCAATGTGCGGTAACCCAA	0.458																																						ENST00000498707.1																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100						c.(2866-2868)cGc>cAc		ADAM metallopeptidase with thrombospondin type 1 motif, 9		C	HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	204.0	199.0	201.0		2867	5.7	1.0	3	dbSNP_132	201	0,8600		0,0,4300	yes	missense	ADAMTS9	NM_182920.1	29	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	probably-damaging	956/1936	64601793	3,13003	2203	4300	6503	SO:0001583	missense	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64601793C>T	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.2867G>A	3.37:g.64601793C>T	ENSP00000418735:p.Arg956His					ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R928H	p.R956H	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	20	3209	-		Lung NSC(201;0.00682)	956			TSP type-1 3.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	c.2867G>A	CCDS2903.1	1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	C|C	23.1|23.1	4.377339|4.377339	0.82682|0.82682	6.81E-4|6.81E-4	0.0|0.0	ENSG00000163638|ENSG00000163638	ENST00000481060|ENST00000295903;ENST00000498707	.|T;T	.|0.63913	.|-0.07;0.14	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.79137|0.79137	0.4395|0.4395	M|M	0.82630|0.82630	2.6|2.6	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.76494	.|0.999;0.999;0.998;0.999	.|D;D;D;D	.|0.66497	.|0.932;0.944;0.939;0.932	T|T	0.81963|0.81963	-0.0692|-0.0692	5|10	.|0.87932	.|D	.|0	.|.	14.003|14.003	0.64444|0.64444	0.0:0.9279:0.0:0.0721|0.0:0.9279:0.0:0.0721	.|.	.|928;956;956;956	.|B7ZVX9;Q9P2N4-2;Q9P2N4-1;Q9P2N4	.|.;.;.;ATS9_HUMAN	T|H	12|928;956	.|ENSP00000295903:R928H;ENSP00000418735:R956H	.|ENSP00000295903:R928H	A|R	-|-	1|2	0|0	ADAMTS9|ADAMTS9	64576833|64576833	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.678000|0.678000	0.39670|0.39670	5.720000|5.720000	0.68470|0.68470	2.654000|2.654000	0.90174|0.90174	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.458	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			6	164	0	0	0	1	0	6	164				
PCDH10	57575	broad.mit.edu	37	4	134075498	134075498	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr4:134075498G>A	ENST00000264360.5	+	2	3494	c.2668G>A	c.(2668-2670)Gac>Aac	p.D890N		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	890					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CTATCTAGTTGACAGACCTCG	0.373																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(2668-2670)Gac>Aac		protocadherin 10							78.0	76.0	77.0					4																	134075498		2203	4300	6503	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134075498G>A	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2668G>A	4.37:g.134075498G>A	ENSP00000264360:p.Asp890Asn						p.D890N	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	2	3494	+			890					Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.2668G>A	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.030432	0.54790	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.52754	0.65	5.95	5.95	0.96441	.	0.000000	0.45361	D	0.000374	T	0.32194	0.0821	N	0.03000	-0.44	0.80722	D	1	P	0.46395	0.877	B	0.43360	0.417	T	0.40308	-0.9570	10	0.48119	T	0.1	.	19.9882	0.97356	0.0:0.0:1.0:0.0	.	890	Q9P2E7	PCD10_HUMAN	N	890	ENSP00000264360:D890N	ENSP00000264360:D890N	D	+	1	0	PCDH10	134294948	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.824000	0.97209	0.655000	0.94253	GAC		0.373	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		13	34	0	0	0	1	0	13	34				
PEBP4	157310	broad.mit.edu	37	8	22675245	22675245	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr8:22675245C>T	ENST00000256404.6	-	4	353	c.262G>A	c.(262-264)Gca>Aca	p.A88T	PEBP4_ENST00000521284.1_5'UTR	NM_144962.2	NP_659399.2	Q96S96	PEBP4_HUMAN	phosphatidylethanolamine-binding protein 4	88						extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)				breast(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|stomach(2)	10		Prostate(55;0.0453)|Breast(100;0.103)		Colorectal(74;0.0434)|COAD - Colon adenocarcinoma(73;0.124)		ATATAGGTTGCGCCCTGTAAC	0.493																																						ENST00000256404.6																			0				breast(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|stomach(2)	10						c.(262-264)Gca>Aca		phosphatidylethanolamine-binding protein 4							112.0	109.0	110.0					8																	22675245		1954	4153	6107	SO:0001583	missense	157310					lysosome		g.chr8:22675245C>T	BC020779	CCDS43724.1	8p21.3	2009-08-13			ENSG00000134020	ENSG00000134020			28319	protein-coding gene	gene with protein product	"""cousin-of-RKIP 1 protein"""	612473				15302887, 16865237	Standard	NM_144962		Approved	MGC22776, CORK1, hPEBP4	uc003xcn.1	Q96S96	OTTHUMG00000163749	ENST00000256404.6:c.262G>A	8.37:g.22675245C>T	ENSP00000256404:p.Ala88Thr					PEBP4_ENST00000521284.1_5'UTR	p.A88T	NM_144962.2	NP_659399.2	Q96S96	PEBP4_HUMAN		Colorectal(74;0.0434)|COAD - Colon adenocarcinoma(73;0.124)	4	353	-		Prostate(55;0.0453)|Breast(100;0.103)	88					Q5EVA1|Q8WW74	Missense_Mutation	SNP	ENST00000256404.6	37	c.262G>A	CCDS43724.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.170684	0.38315	.	.	ENSG00000134020	ENST00000256404	T	0.44083	0.93	5.09	1.77	0.24775	.	0.865430	0.10004	N	0.728092	T	0.24236	0.0587	L	0.31845	0.965	0.09310	N	1	P	0.49307	0.922	B	0.36666	0.23	T	0.12451	-1.0547	10	0.35671	T	0.21	-3.6312	3.0701	0.06227	0.48:0.3641:0.0:0.1559	.	88	Q96S96	PEBP4_HUMAN	T	88	ENSP00000256404:A88T	ENSP00000256404:A88T	A	-	1	0	PEBP4	22731190	0.001000	0.12720	0.006000	0.13384	0.181000	0.23173	0.395000	0.20850	0.524000	0.28502	-1.014000	0.02459	GCA		0.493	PEBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375141.2	NM_144962		3	58	0	0	0	1	0	3	58				
TRMT10C	54931	broad.mit.edu	37	3	101284665	101284665	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr3:101284665G>T	ENST00000309922.6	+	2	1194	c.1040G>T	c.(1039-1041)gGt>gTt	p.G347V		NM_017819.2	NP_060289.2	Q7L0Y3	MRRP1_HUMAN	tRNA methyltransferase 10 homolog C (S. cerevisiae)	347	SAM-dependent MTase TRM10-type. {ECO:0000255|PROSITE-ProRule:PRU01012}.				mitochondrial RNA 5'-end processing (GO:0000964)|tRNA processing (GO:0008033)	mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)										TGGGAAATTGGTAACAAAAAT	0.393																																						ENST00000309922.6																			0											c.(1039-1041)gGt>gTt		tRNA methyltransferase 10 homolog C (S. cerevisiae)							48.0	48.0	48.0					3																	101284665		1828	4072	5900	SO:0001583	missense	54931							g.chr3:101284665G>T	AK000439	CCDS43122.1	3q12.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000174173	ENSG00000174173			26022	protein-coding gene	gene with protein product	"""mitochondrial RNase P subunit 1"""	615423	"""RNA (guanine-9-) methyltransferase domain containing 1"""	RG9MTD1		18984158	Standard	NM_017819		Approved	FLJ20432, MRPP1	uc003duz.4	Q7L0Y3	OTTHUMG00000159114	ENST00000309922.6:c.1040G>T	3.37:g.101284665G>T	ENSP00000312356:p.Gly347Val						p.G347V	NM_017819.2	NP_060289.2					2	1194	+								Q9NRG5|Q9NX54|Q9Y596	Missense_Mutation	SNP	ENST00000309922.6	37	c.1040G>T	CCDS43122.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.904048	0.52333	.	.	ENSG00000174173	ENST00000309922	T	0.21191	2.02	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.58119	0.2100	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63646	-0.6590	10	0.72032	D	0.01	-11.6172	20.5948	0.99439	0.0:0.0:1.0:0.0	.	347	Q7L0Y3	MRRP1_HUMAN	V	347	ENSP00000312356:G347V	ENSP00000312356:G347V	G	+	2	0	RG9MTD1	102767355	1.000000	0.71417	0.791000	0.31998	0.032000	0.12392	9.383000	0.97214	2.873000	0.98535	0.563000	0.77884	GGT		0.393	TRMT10C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353400.2	NM_017819		14	15	1	0	3.27435e-08	1	3.47081e-08	14	15				
MICAL3	57553	broad.mit.edu	37	22	18368694	18368694	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr22:18368694C>T	ENST00000441493.2	-	16	2543	c.2191G>A	c.(2191-2193)Gcc>Acc	p.A731T	MICAL3_ENST00000400561.2_Missense_Mutation_p.A731T|MICAL3_ENST00000585038.1_Missense_Mutation_p.A731T|MICAL3_ENST00000207726.7_Missense_Mutation_p.A731T|MICAL3_ENST00000383094.3_Missense_Mutation_p.A731T|MICAL3_ENST00000414725.2_Missense_Mutation_p.A731T|MICAL3_ENST00000429452.1_Missense_Mutation_p.A731T|MICAL3_ENST00000444520.1_Missense_Mutation_p.A731T	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	731					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		TCAAATTTGGCCAGCAGCTGG	0.557																																						ENST00000441493.2																			0				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4						c.(2191-2193)Gcc>Acc		microtubule associated monooxygenase, calponin and LIM domain containing 3							168.0	154.0	158.0					22																	18368694		1568	3582	5150	SO:0001583	missense	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18368694C>T	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.2191G>A	22.37:g.18368694C>T	ENSP00000416015:p.Ala731Thr					MICAL3_ENST00000429452.1_Missense_Mutation_p.A731T|MICAL3_ENST00000383094.3_Missense_Mutation_p.A731T|MICAL3_ENST00000400561.2_Missense_Mutation_p.A731T|MICAL3_ENST00000414725.2_Missense_Mutation_p.A731T|MICAL3_ENST00000207726.7_Missense_Mutation_p.A731T|MICAL3_ENST00000585038.1_Missense_Mutation_p.A731T|MICAL3_ENST00000444520.1_Missense_Mutation_p.A731T	p.A731T	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	16	2543	-		all_epithelial(15;0.198)	731					B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	ENST00000441493.2	37	c.2191G>A	CCDS46659.1	.	.	.	.	.	.	.	.	.	.	C	36	5.701195	0.96812	.	.	ENSG00000093100;ENSG00000093100;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156	ENST00000441493;ENST00000429452;ENST00000400561;ENST00000444520;ENST00000414725;ENST00000383094;ENST00000207726	T;T;T;T;T;T;T	0.70516	-0.09;-0.49;-0.16;-0.16;-0.16;-0.16;-0.16	5.93	5.93	0.95920	.	0.116788	0.56097	D	0.000021	D	0.85296	0.5664	M	0.78637	2.42	0.58432	D	0.999999	D;D;D;P;D	0.89917	0.997;1.0;0.999;0.911;0.997	D;D;D;P;D	0.77004	0.989;0.987;0.966;0.646;0.977	D	0.84672	0.0712	10	0.52906	T	0.07	.	20.3437	0.98782	0.0:1.0:0.0:0.0	.	731;731;731;731;731	B2RXJ5;Q7RTP6-3;Q7RTP6-2;Q7RTP6-4;Q7RTP6	.;.;.;.;MICA3_HUMAN	T	731	ENSP00000416015:A731T;ENSP00000414846:A731T;ENSP00000383406:A731T;ENSP00000410315:A731T;ENSP00000391827:A731T;ENSP00000372574:A731T;ENSP00000207726:A731T	ENSP00000207726:A731T	A	-	1	0	XXbac-B461K10.4;MICAL3	16748694	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.731000	0.84895	2.815000	0.96918	0.561000	0.74099	GCC		0.557	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			4	106	0	0	0	1	0	4	106				
ASIC2	40	broad.mit.edu	37	17	31355278	31355278	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr17:31355278G>A	ENST00000359872.6	-	4	1728	c.967C>T	c.(967-969)Cgc>Tgc	p.R323C	ASIC2_ENST00000225823.2_Missense_Mutation_p.R374C|ASIC2_ENST00000448983.1_5'UTR	NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	323					central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)									Amiloride(DB00594)	TGAACCATGCGGCAGTTGCAG	0.557																																						ENST00000225823.2																			0											c.(1120-1122)Cgc>Tgc		acid-sensing (proton-gated) ion channel 2	Amiloride(DB00594)						62.0	62.0	62.0					17																	31355278		2203	4300	6503	SO:0001583	missense	40				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr17:31355278G>A	AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	99	protein-coding gene	gene with protein product	"""degenerin"""	601784	"""amiloride-sensitive cation channel 1, neuronal"""	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.967C>T	17.37:g.31355278G>A	ENSP00000352934:p.Arg323Cys					ASIC2_ENST00000359872.6_Missense_Mutation_p.R323C|ASIC2_ENST00000448983.1_5'UTR	p.R374C	NM_183377.1	NP_899233.1	Q16515	ACCN1_HUMAN			4	1992	-			323					E9PBX2|Q13553|Q6DJU1|Q8N3E2	Missense_Mutation	SNP	ENST00000359872.6	37	c.1120C>T	CCDS42296.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.944115	0.73672	.	.	ENSG00000108684	ENST00000225823;ENST00000359872;ENST00000448983	T;T	0.66815	-0.23;-0.23	5.56	3.38	0.38709	.	0.154930	0.56097	D	0.000039	D	0.84329	0.5448	M	0.93678	3.445	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.993;0.999	D	0.83724	0.0194	10	0.39692	T	0.17	-20.5847	11.7812	0.52016	0.0:0.0:0.6903:0.3097	.	323;374	Q16515;E9PBX2	ACCN1_HUMAN;.	C	374;323;129	ENSP00000225823:R374C;ENSP00000352934:R323C	ENSP00000225823:R374C	R	-	1	0	ACCN1	28379391	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.570000	0.45981	0.249000	0.21456	0.591000	0.81541	CGC		0.557	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094		7	25	0	0	0	1	0	7	25				
STAB1	23166	broad.mit.edu	37	3	52548185	52548185	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr3:52548185C>T	ENST00000321725.6	+	33	3578	c.3502C>T	c.(3502-3504)Ccc>Tcc	p.P1168S		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1168	FAS1 4. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CATCTTTGTGCCCACCAACCG	0.622																																						ENST00000321725.6																			0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(3502-3504)Ccc>Tcc		stabilin 1							77.0	77.0	77.0					3																	52548185		2203	4300	6503	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52548185C>T	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.3502C>T	3.37:g.52548185C>T	ENSP00000312946:p.Pro1168Ser						p.P1168S	NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	33	3578	+			1168			FAS1 4.		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.3502C>T	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.497904	0.85069	.	.	ENSG00000010327	ENST00000321725	D	0.99880	-7.45	5.23	5.23	0.72850	FAS1 domain (5);	0.000000	0.85682	D	0.000000	D	0.99857	0.9933	M	0.77486	2.375	0.50313	D	0.999867	D	0.89917	1.0	D	0.97110	1.0	D	0.96420	0.9311	10	0.51188	T	0.08	.	14.3264	0.66523	0.0:1.0:0.0:0.0	.	1168	Q9NY15	STAB1_HUMAN	S	1168	ENSP00000312946:P1168S	ENSP00000312946:P1168S	P	+	1	0	STAB1	52523225	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	4.416000	0.59815	2.453000	0.82957	0.561000	0.74099	CCC		0.622	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		4	45	0	0	0	1	0	4	45				
C2orf71	388939	broad.mit.edu	37	2	29296438	29296438	+	Silent	SNP	G	G	A			TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr2:29296438G>A	ENST00000331664.5	-	1	689	c.690C>T	c.(688-690)agC>agT	p.S230S		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	230					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CCAACAGCTGGCTGATCTCCT	0.557																																						ENST00000331664.5																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						c.(688-690)agC>agT		chromosome 2 open reading frame 71							71.0	75.0	74.0					2																	29296438		2057	4201	6258	SO:0001819	synonymous_variant	388939				response to stimulus|visual perception	photoreceptor outer segment		g.chr2:29296438G>A		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.690C>T	2.37:g.29296438G>A							p.S230S	NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN			1	689	-			230						Silent	SNP	ENST00000331664.5	37	c.690C>T	CCDS42669.1																																																																																				0.557	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		24	57	0	0	0	1	0	24	57				
RYR2	6262	broad.mit.edu	37	1	237947268	237947268	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr1:237947268C>T	ENST00000366574.2	+	90	12573	c.12256C>T	c.(12256-12258)Cgc>Tgc	p.R4086C	RYR2_ENST00000360064.6_Missense_Mutation_p.R4092C|RYR2_ENST00000542537.1_Missense_Mutation_p.R4070C|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4086					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTTCGTCAAACGCTTCCACGA	0.507																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(12256-12258)Cgc>Tgc		ryanodine receptor 2 (cardiac)							43.0	43.0	43.0					1																	237947268		2016	4192	6208	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237947268C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.12256C>T	1.37:g.237947268C>T	ENSP00000355533:p.Arg4086Cys					RYR2_ENST00000542537.1_Missense_Mutation_p.R4070C|RYR2_ENST00000360064.6_Missense_Mutation_p.R4092C	p.R4086C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		90	12573	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4086					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.12256C>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	15.56	2.870440	0.51588	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	T;D;T	0.82526	-0.18;-1.62;-0.18	5.85	2.8	0.32819	EF-hand-like domain (1);	0.000000	0.64402	D	0.000012	D	0.89128	0.6627	M	0.64567	1.98	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.88969	0.3399	10	0.87932	D	0	.	14.8034	0.69932	0.4126:0.5874:0.0:0.0	.	1060;4086	B4DGV4;Q92736	.;RYR2_HUMAN	C	4086;4092;4070;1060	ENSP00000355533:R4086C;ENSP00000353174:R4092C;ENSP00000443798:R4070C	ENSP00000353174:R4092C	R	+	1	0	RYR2	236013891	1.000000	0.71417	0.198000	0.23420	0.416000	0.31233	1.971000	0.40530	0.294000	0.22547	0.655000	0.94253	CGC		0.507	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		12	17	0	0	0	1	0	12	17				
PCOLCE2	26577	broad.mit.edu	37	3	142567247	142567247	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr3:142567247C>T	ENST00000295992.3	-	3	566	c.260G>A	c.(259-261)cGc>cAc	p.R87H	PCOLCE2_ENST00000485766.1_Missense_Mutation_p.R87H	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	87	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				positive regulation of peptidase activity (GO:0010952)	extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)	p.R87H(2)		NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						AAAGTCATAGCGGCACAGGTT	0.517																																						ENST00000295992.3																			2	Substitution - Missense(2)	p.R87H(2)	large_intestine(2)	NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(259-261)cGc>cAc		procollagen C-endopeptidase enhancer 2							88.0	85.0	86.0					3																	142567247		2203	4300	6503	SO:0001583	missense	26577					extracellular region	collagen binding|heparin binding|peptidase activator activity	g.chr3:142567247C>T	AF098269	CCDS3127.1	3q21-q24	2008-07-18			ENSG00000163710	ENSG00000163710			8739	protein-coding gene	gene with protein product		607064				10873381	Standard	NM_013363		Approved	PCPE2	uc003evd.3	Q9UKZ9	OTTHUMG00000159312	ENST00000295992.3:c.260G>A	3.37:g.142567247C>T	ENSP00000295992:p.Arg87His					PCOLCE2_ENST00000485766.1_Missense_Mutation_p.R87H	p.R87H	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN			3	566	-			87			CUB 1.		B2RCH9|D3DNG4|Q9BRH3	Missense_Mutation	SNP	ENST00000295992.3	37	c.260G>A	CCDS3127.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.397113	0.83120	.	.	ENSG00000163710	ENST00000295992;ENST00000485766	T;T	0.28895	1.59;1.59	5.1	5.1	0.69264	CUB (5);	0.000000	0.85682	D	0.000000	T	0.54078	0.1836	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.49698	-0.8912	10	0.42905	T	0.14	-15.5768	18.7404	0.91772	0.0:1.0:0.0:0.0	.	87	Q9UKZ9	PCOC2_HUMAN	H	87	ENSP00000295992:R87H;ENSP00000419842:R87H	ENSP00000295992:R87H	R	-	2	0	PCOLCE2	144049937	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.320000	0.79064	2.666000	0.90696	0.644000	0.83932	CGC		0.517	PCOLCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354509.1	NM_013363		4	109	0	0	0	1	0	4	109				
SLC22A8	9376	broad.mit.edu	37	11	62761339	62761339	+	Missense_Mutation	SNP	C	C	T	rs200952770		TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr11:62761339C>T	ENST00000336232.2	-	9	1363	c.1228G>A	c.(1228-1230)Gtg>Atg	p.V410M	SLC22A8_ENST00000311438.8_Missense_Mutation_p.V410M|SLC22A8_ENST00000545207.1_Missense_Mutation_p.V319M|SLC22A8_ENST00000535878.1_Missense_Mutation_p.V287M|SLC22A8_ENST00000430500.2_Missense_Mutation_p.V410M|SLC22A8_ENST00000542795.1_5'Flank	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	410					glutathione transport (GO:0034635)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|quaternary ammonium group transmembrane transporter activity (GO:0015651)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Aspartame(DB00168)|Baclofen(DB00181)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Cilastatin(DB01597)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Estradiol(DB00783)|Famotidine(DB00927)|Furosemide(DB00695)|Ganciclovir(DB01004)|Guanidine(DB00536)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|L-Carnitine(DB00583)|Liothyronine(DB00279)|Liotrix(DB01583)|Melatonin(DB01065)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Minocycline(DB01017)|Novobiocin(DB01051)|Oseltamivir(DB00198)|Ouabain(DB01092)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Ranitidine(DB00863)|Salicylic acid(DB00936)|Saxagliptin(DB06335)|Succinic acid(DB00139)|Tenofovir(DB00300)|Tenoxicam(DB00469)|Testosterone(DB00624)|Tetracycline(DB00759)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Zidovudine(DB00495)	ACTGTCCTCACGGTCTGCAAG	0.498																																						ENST00000336232.2																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						c.(1228-1230)Gtg>Atg		solute carrier family 22 (organic anion transporter), member 8		C	MET/VAL,MET/VAL,MET/VAL,MET/VAL	0,4402		0,0,2201	82.0	77.0	78.0		1228,955,859,1228	-6.9	0.0	11		78	2,8594	2.2+/-6.3	0,2,4296	no	missense,missense,missense,missense	SLC22A8	NM_001184732.1,NM_001184733.1,NM_001184736.1,NM_004254.3	21,21,21,21	0,2,6497	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	410/543,319/452,287/420,410/543	62761339	2,12996	2201	4298	6499	SO:0001583	missense	9376				response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity	g.chr11:62761339C>T	AF097491, BC022387	CCDS8042.1, CCDS53643.1, CCDS53644.1	11q12.3	2013-05-22			ENSG00000149452	ENSG00000149452		"""Solute carriers"""	10972	protein-coding gene	gene with protein product		607581				10049739	Standard	NM_004254		Approved	OAT3	uc001nwo.3	Q8TCC7	OTTHUMG00000167768	ENST00000336232.2:c.1228G>A	11.37:g.62761339C>T	ENSP00000337335:p.Val410Met					SLC22A8_ENST00000535878.1_Missense_Mutation_p.V287M|SLC22A8_ENST00000311438.8_Missense_Mutation_p.V410M|SLC22A8_ENST00000545207.1_Missense_Mutation_p.V319M|SLC22A8_ENST00000430500.2_Missense_Mutation_p.V410M	p.V410M	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN			9	1363	-			410					B4DPH7|F5GWA8|F5H5J1|O95820|Q59EW9|Q96TC1	Missense_Mutation	SNP	ENST00000336232.2	37	c.1228G>A	CCDS8042.1	.	.	.	.	.	.	.	.	.	.	C	9.693	1.152329	0.21371	0.0	2.33E-4	ENSG00000149452	ENST00000336232;ENST00000540631;ENST00000545207;ENST00000535878;ENST00000311438;ENST00000430500	T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13	5.89	-6.9	0.01655	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.680770	0.14182	N	0.335977	T	0.60444	0.2269	L	0.41906	1.305	0.09310	N	1	B;B	0.27286	0.144;0.174	B;B	0.32677	0.092;0.15	T	0.54234	-0.8324	10	0.72032	D	0.01	.	1.9749	0.03414	0.3408:0.3554:0.1283:0.1755	.	410;410	Q8TCC7-2;Q8TCC7	.;S22A8_HUMAN	M	410;396;319;287;410;410	ENSP00000337335:V410M;ENSP00000441658:V319M;ENSP00000443368:V287M;ENSP00000311463:V410M;ENSP00000398548:V410M	ENSP00000311463:V410M	V	-	1	0	SLC22A8	62517915	0.000000	0.05858	0.014000	0.15608	0.476000	0.33039	-1.543000	0.02194	-0.687000	0.05162	-0.867000	0.03001	GTG		0.498	SLC22A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396191.1	NM_004254		3	53	0	0	0	1	0	3	53				
EVI2B	2124	broad.mit.edu	37	17	29632323	29632323	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr17:29632323A>G	ENST00000330927.4	-	2	459	c.305T>C	c.(304-306)cTt>cCt	p.L102P	EVI2B_ENST00000544462.1_Missense_Mutation_p.L117P|NF1_ENST00000356175.3_Intron|NF1_ENST00000358273.4_Intron|EVI2B_ENST00000577894.1_Missense_Mutation_p.L102P|CTD-2370N5.3_ENST00000578584.1_3'UTR	NM_006495.3	NP_006486.3	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B	102						integral component of plasma membrane (GO:0005887)		p.0?(8)|p.?(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		GTTGTAGGCAAGTGGTTGTCC	0.493																																						ENST00000330927.4																			11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12						c.(304-306)cTt>cCt		ecotropic viral integration site 2B							529.0	403.0	446.0					17																	29632323		2203	4300	6503	SO:0001583	missense	2124					cytoplasm|integral to plasma membrane		g.chr17:29632323A>G		CCDS11266.1	17q11.2	2011-08-11			ENSG00000185862	ENSG00000185862		"""CD molecules"""	3500	protein-coding gene	gene with protein product		158381				1903357	Standard	NM_006495		Approved	D17S376, EVDB, CD361	uc002hgk.2	P34910	OTTHUMG00000132869	ENST00000330927.4:c.305T>C	17.37:g.29632323A>G	ENSP00000333779:p.Leu102Pro					CTD-2370N5.3_ENST00000578584.1_3'UTR|EVI2B_ENST00000544462.1_Missense_Mutation_p.L117P|EVI2B_ENST00000577894.1_Missense_Mutation_p.L102P|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron	p.L102P	NM_006495.3	NP_006486.3	P34910	EVI2B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)	2	459	-		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)	102					B7Z4A7	Missense_Mutation	SNP	ENST00000330927.4	37	c.305T>C	CCDS11266.1	.	.	.	.	.	.	.	.	.	.	A	8.867	0.948430	0.18356	.	.	ENSG00000185862	ENST00000330927;ENST00000544462	T;T	0.51817	0.69;0.69	4.15	-2.04	0.07343	.	0.444855	0.16242	N	0.223115	T	0.31734	0.0806	L	0.38838	1.175	0.09310	N	0.999999	B;B	0.09022	0.002;0.002	B;B	0.09377	0.004;0.004	T	0.16660	-1.0395	10	0.33940	T	0.23	-4.2304	8.8759	0.35345	0.3978:0.0:0.6022:0.0	.	117;102	B7Z4A7;P34910	.;EVI2B_HUMAN	P	102;117	ENSP00000333779:L102P;ENSP00000439738:L117P	ENSP00000333779:L102P	L	-	2	0	EVI2B	26656449	0.000000	0.05858	0.012000	0.15200	0.231000	0.25187	-0.492000	0.06467	-0.407000	0.07576	0.459000	0.35465	CTT		0.493	EVI2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256349.2	NM_006495		48	92	0	0	0	1	0	48	92				
RFX7	64864	broad.mit.edu	37	15	56386857	56386857	+	Silent	SNP	C	C	T	rs373394346		TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr15:56386857C>T	ENST00000559447.2	-	9	3049	c.2778G>A	c.(2776-2778)ccG>ccA	p.P926P	RFX7_ENST00000317318.6_Silent_p.P1023P|RFX7_ENST00000422057.1_Silent_p.P926P|RFX7_ENST00000423270.1_Silent_p.P1023P			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	926					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TGAATGCAAACGGATTCCTGC	0.498																																						ENST00000423270.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(3067-3069)ccG>ccA		regulatory factor X, 7		C		1,3969		0,1,1984	87.0	86.0	86.0		3069	-4.4	1.0	15		86	2,8310		0,2,4154	no	coding-synonymous	RFX7	NM_022841.5		0,3,6138	TT,TC,CC		0.0241,0.0252,0.0244		1023/1461	56386857	3,12279	1985	4156	6141	SO:0001819	synonymous_variant	64864				regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr15:56386857C>T			15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"""regulatory factor X domain containing 2"""	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.2778G>A	15.37:g.56386857C>T						RFX7_ENST00000317318.6_Silent_p.P1023P|RFX7_ENST00000559447.2_Silent_p.P926P|RFX7_ENST00000422057.1_Silent_p.P926P	p.P1023P	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN			9	3068	-			926					Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Silent	SNP	ENST00000559447.2	37	c.3069G>A																																																																																					0.498	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841		13	29	0	0	0	1	0	13	29				
SBSPON	157869	broad.mit.edu	37	8	73979646	73979646	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr8:73979646C>T	ENST00000297354.6	-	5	929	c.725G>A	c.(724-726)gGa>gAa	p.G242E	SBSPON_ENST00000519697.1_5'UTR	NM_153225.3	NP_694957.3	Q8IVN8	SBSPO_HUMAN	somatomedin B and thrombospondin, type 1 domain containing	242					immune response (GO:0006955)	proteinaceous extracellular matrix (GO:0005578)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)										TTTCCAAGTTCCTTGACACCG	0.368																																						ENST00000297354.6																			0											c.(724-726)gGa>gAa		somatomedin B and thrombospondin, type 1 domain containing							104.0	100.0	102.0					8																	73979646		1839	4094	5933	SO:0001583	missense	157869				immune response	extracellular region	polysaccharide binding|scavenger receptor activity	g.chr8:73979646C>T		CCDS43747.2	8q21.11	2013-08-07	2012-05-15	2012-05-15	ENSG00000164764	ENSG00000164764			30362	protein-coding gene	gene with protein product	"""RPE spondin"", ""rpe-spondin"""		"""chromosome 8 open reading frame 84"""	C8orf84		12107410	Standard	NM_153225		Approved	RPESP	uc003xzf.3	Q8IVN8	OTTHUMG00000157144	ENST00000297354.6:c.725G>A	8.37:g.73979646C>T	ENSP00000297354:p.Gly242Glu					SBSPON_ENST00000519697.1_5'UTR	p.G242E	NM_153225.3	NP_694957.3	Q8IVN8	RPESP_HUMAN			5	929	-			242					A8KAA5|Q96J64	Missense_Mutation	SNP	ENST00000297354.6	37	c.725G>A	CCDS43747.2	.	.	.	.	.	.	.	.	.	.	C	31	5.098837	0.94197	.	.	ENSG00000164764	ENST00000297354	T	0.22945	1.93	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.59321	0.2185	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62539	-0.6833	10	0.87932	D	0	-18.978	20.1224	0.97967	0.0:1.0:0.0:0.0	.	242	Q8IVN8	RPESP_HUMAN	E	242	ENSP00000297354:G242E	ENSP00000297354:G242E	G	-	2	0	C8orf84	74142200	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.574000	0.74014	2.846000	0.97976	0.644000	0.83932	GGA		0.368	SBSPON-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347584.2	NM_153225		50	38	0	0	0	1	0	50	38				
HIST1H2BE	8344	broad.mit.edu	37	6	26184299	26184299	+	Silent	SNP	C	C	T			TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr6:26184299C>T	ENST00000356530.3	+	1	342	c.276C>T	c.(274-276)tcC>tcT	p.S92S		NM_003523.2	NP_003514.2	P62807	H2B1C_HUMAN	histone cluster 1, H2be	92					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(1)	4						CCATCACCTCCAGGGAGATCC	0.617																																						ENST00000356530.3																			0				endometrium(1)|large_intestine(2)|lung(1)	4						c.(274-276)tcC>tcT		histone cluster 1, H2be							66.0	71.0	69.0					6																	26184299		2202	4297	6499	SO:0001819	synonymous_variant	8344				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26184299C>T	Z80780	CCDS4588.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197697	ENSG00000274290		"""Histones / Replication-dependent"""	4753	protein-coding gene	gene with protein product		602805	"""H2B histone family, member H"", ""histone 1, H2be"""	H2BFH		9119399, 12408966	Standard	NM_003523		Approved	H2B/h, H2B.h	uc003ngt.3	P62807	OTTHUMG00000014427	ENST00000356530.3:c.276C>T	6.37:g.26184299C>T							p.S92S	NM_003523.2	NP_003514.2	P62807	H2B1C_HUMAN			1	342	+			92					P02278|Q3B872|Q4VB69|Q93078|Q93080	Silent	SNP	ENST00000356530.3	37	c.276C>T	CCDS4588.1																																																																																				0.617	HIST1H2BE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040090.1	NM_003523		4	88	0	0	0	1	0	4	88				
SYT17	51760	broad.mit.edu	37	16	19194989	19194989	+	Silent	SNP	C	C	T			TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr16:19194989C>T	ENST00000355377.2	+	5	869	c.471C>T	c.(469-471)ttC>ttT	p.F157F	SYT17_ENST00000568115.1_Silent_p.F96F|SYT17_ENST00000562711.2_Silent_p.F153F|SYT17_ENST00000562034.1_Silent_p.F96F	NM_016524.2	NP_057608.2	Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	157					exocytosis (GO:0006887)	membrane (GO:0016020)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						TCAGGAAGTTCGAACCCCACC	0.547																																						ENST00000562034.1																			0				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						c.(286-288)ttC>ttT		synaptotagmin XVII							90.0	76.0	81.0					16																	19194989		2197	4300	6497	SO:0001819	synonymous_variant	51760					membrane|synaptic vesicle	transporter activity	g.chr16:19194989C>T		CCDS10575.1	16p12.3	2013-01-21			ENSG00000103528	ENSG00000103528		"""Synaptotagmins"""	24119	protein-coding gene	gene with protein product	"""B/K protein"""					10493829	Standard	NM_016524		Approved		uc002dfw.3	Q9BSW7	OTTHUMG00000131461	ENST00000355377.2:c.471C>T	16.37:g.19194989C>T						SYT17_ENST00000355377.2_Silent_p.F157F|SYT17_ENST00000562711.2_Silent_p.F153F|SYT17_ENST00000568115.1_Silent_p.F96F	p.F96F			Q9BSW7	SYT17_HUMAN			3	4086	+			157					O43330|Q9NZ18	Silent	SNP	ENST00000355377.2	37	c.288C>T	CCDS10575.1																																																																																				0.547	SYT17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254286.2	NM_016524		3	46	0	0	0	1	0	3	46				
RNPC3	55599	broad.mit.edu	37	1	104094378	104094378	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr1:104094378delT	ENST00000533099.1	+	15	1766	c.1530delT	c.(1528-1530)cctfs	p.P510fs	AMY2B_ENST00000361355.4_5'Flank|RNPC3_ENST00000524631.1_Frame_Shift_Del_p.P509fs|RNPC3_ENST00000423855.2_Frame_Shift_Del_p.P510fs			Q96LT9	RBM40_HUMAN	RNA-binding region (RNP1, RRM) containing 3	510					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Lung(183;0.111)|Epithelial(280;0.122)|all cancers(265;0.125)|Colorectal(144;0.163)		AACAAGATCCTAAGGAAGGAA	0.254																																						ENST00000533099.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						c.(1528-1530)ccfs		RNA-binding region (RNP1, RRM) containing 3							17.0	15.0	16.0					1																	104094378		1742	3992	5734	SO:0001589	frameshift_variant	55599				mRNA processing	U12-type spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chr1:104094378delT	AB058742, AY099329	CCDS781.1	1p21.1	2013-07-16			ENSG00000185946	ENSG00000185946		"""RNA binding motif (RRM) containing"""	18666	protein-coding gene	gene with protein product	"""U11/U12 snRNP 65K"""					14974681, 15146077	Standard	NM_017619		Approved	KIAA1839, FLJ20008, RBM40, SNRNP65	uc010oun.2	Q96LT9	OTTHUMG00000166613	ENST00000533099.1:c.1530delT	1.37:g.104094378delT	ENSP00000432886:p.Pro510fs					RNPC3_ENST00000524631.1_Frame_Shift_Del_p.P509fs|RNPC3_ENST00000423855.2_Frame_Shift_Del_p.P510fs	p.P510fs			Q96LT9	RBM40_HUMAN		Lung(183;0.111)|Epithelial(280;0.122)|all cancers(265;0.125)|Colorectal(144;0.163)	15	1766	+		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)	510					A8K1C9|D3DT74|Q5TZ87|Q96FK7|Q96JI8|Q9NSU7|Q9NXX2	Frame_Shift_Del	DEL	ENST00000533099.1	37	c.1530delT	CCDS781.1																																																																																				0.254	RNPC3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390812.1	NM_017619		2	4						2	4	---	---	---	---
PLEC	5339	broad.mit.edu	37	8	144992095	144992096	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr8:144992095_144992096insTA	ENST00000322810.4	-	32	12473_12474	c.12304_12305insTA	c.(12304-12306)gagfs	p.E4102fs	PLEC_ENST00000436759.2_Frame_Shift_Ins_p.E3992fs|PLEC_ENST00000398774.2_Frame_Shift_Ins_p.E3933fs|PLEC_ENST00000356346.3_Frame_Shift_Ins_p.E3951fs|PLEC_ENST00000354958.2_Frame_Shift_Ins_p.E3943fs|PLEC_ENST00000345136.3_Frame_Shift_Ins_p.E3965fs|PLEC_ENST00000527096.1_Frame_Shift_Ins_p.E3988fs|PLEC_ENST00000354589.3_Frame_Shift_Ins_p.E3965fs|PLEC_ENST00000357649.2_Frame_Shift_Ins_p.E3969fs	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4102	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTCCAGGAGCTCAAAGGCTGTG	0.639																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(12304-12306)gctfs		plectin																																				SO:0001589	frameshift_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144992095_144992096insTA	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.12304_12305insTA	8.37:g.144992095_144992096insTA	ENSP00000323856:p.Glu4102fs					PLEC_ENST00000527096.1_Frame_Shift_Ins_p.A3988fs|PLEC_ENST00000345136.3_Frame_Shift_Ins_p.A3965fs|PLEC_ENST00000354958.2_Frame_Shift_Ins_p.A3943fs|PLEC_ENST00000357649.2_Frame_Shift_Ins_p.A3969fs|PLEC_ENST00000436759.2_Frame_Shift_Ins_p.A3992fs|PLEC_ENST00000356346.3_Frame_Shift_Ins_p.A3951fs|PLEC_ENST00000398774.2_Frame_Shift_Ins_p.A3933fs|PLEC_ENST00000354589.3_Frame_Shift_Ins_p.A3965fs	p.A4102fs	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	12473_12474	-			4102			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Frame_Shift_Ins	INS	ENST00000322810.4	37	c.12304_12305insTA	CCDS43772.1																																																																																				0.639	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		8	30						8	30	---	---	---	---
NCAPD3	23310	broad.mit.edu	37	11	134054795	134054797	+	Splice_Site	DEL	CAC	CAC	-			TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr11:134054795_134054797delCAC	ENST00000534548.2	-	18	2400		c.e18+1		RP11-700F16.3_ENST00000531710.1_RNA	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3						mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		AGCAGACACTCACCAGTCACTTT	0.438																																						ENST00000534548.2																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.e18+1		non-SMC condensin II complex, subunit D3																																				SO:0001630	splice_region_variant	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134054795_134054797delCAC	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.2335+1GTG>-	11.37:g.134054795_134054797delCAC						RP11-700F16.3_ENST00000531710.1_RNA		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	18	2400	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)						A6NFS2|Q4KMQ9	Splice_Site	DEL	ENST00000534548.2	37		CCDS31723.1																																																																																				0.438	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261	Intron	119	246						119	246	---	---	---	---
NFATC4	4776	broad.mit.edu	37	14	24837630	24837630	+	Frame_Shift_Del	DEL	G	G	-			TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr14:24837630delG	ENST00000250373.4	+	1	225	c.84delG	c.(82-84)gcgfs	p.A28fs	NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000556169.1_5'Flank|NFATC4_ENST00000554966.1_Frame_Shift_Del_p.A41fs|NFATC4_ENST00000554050.1_Frame_Shift_Del_p.A28fs|NFATC4_ENST00000554661.1_5'Flank|NFATC4_ENST00000554591.1_Frame_Shift_Del_p.A91fs|NFATC4_ENST00000557451.1_5'Flank|NFATC4_ENST00000556279.1_Frame_Shift_Del_p.A60fs|NFATC4_ENST00000555453.1_5'Flank|NFATC4_ENST00000422617.3_5'Flank|NFATC4_ENST00000424781.2_Frame_Shift_Del_p.A41fs|NFATC4_ENST00000553469.1_Frame_Shift_Del_p.A60fs|NFATC4_ENST00000554344.1_5'Flank|NFATC4_ENST00000553879.1_5'Flank|NFATC4_ENST00000555590.1_Frame_Shift_Del_p.A41fs|NFATC4_ENST00000539237.2_Frame_Shift_Del_p.A60fs|NFATC4_ENST00000553708.1_Frame_Shift_Del_p.A28fs|NFATC4_ENST00000413692.2_Frame_Shift_Del_p.A91fs	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	28					cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CGCTGGGCGCGGGGGGATTGG	0.657																																						ENST00000413692.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34						c.(271-273)gcfs		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4							4.0	4.0	4.0					14																	24837630		2015	3948	5963	SO:0001589	frameshift_variant	4776				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr14:24837630delG	BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"""Nuclear factor of activated T-cells"""	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.84delG	14.37:g.24837630delG	ENSP00000250373:p.Ala28fs					NFATC4_ENST00000250373.4_Frame_Shift_Del_p.A28fs|NFATC4_ENST00000424781.2_Frame_Shift_Del_p.A41fs|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000556279.1_Frame_Shift_Del_p.A60fs|NFATC4_ENST00000555590.1_Frame_Shift_Del_p.A41fs|NFATC4_ENST00000554966.1_Frame_Shift_Del_p.A41fs|NFATC4_ENST00000553469.1_Frame_Shift_Del_p.A60fs|NFATC4_ENST00000554050.1_Frame_Shift_Del_p.A28fs|NFATC4_ENST00000539237.2_Frame_Shift_Del_p.A60fs|NFATC4_ENST00000553708.1_Frame_Shift_Del_p.A28fs|NFATC4_ENST00000554591.1_Frame_Shift_Del_p.A91fs	p.A91fs	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	2	417	+			28			Pro-rich.		B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Frame_Shift_Del	DEL	ENST00000250373.4	37	c.273delG	CCDS9629.1																																																																																				0.657	NFATC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073206.6	NM_004554		2	4						2	4	---	---	---	---
GATA6	2627	broad.mit.edu	37	18	19752073	19752075	+	In_Frame_Del	DEL	ACC	ACC	-	rs587780342		TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chr18:19752073_19752075delACC	ENST00000269216.3	+	2	1245_1247	c.968_970delACC	c.(967-972)taccac>tac	p.H333del	GATA6_ENST00000581694.1_In_Frame_Del_p.H333del	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	333	Poly-His.				blood coagulation (GO:0007596)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac vascular smooth muscle cell differentiation (GO:0060947)|cellular response to BMP stimulus (GO:0071773)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to hypoxia (GO:0071456)|Clara cell differentiation (GO:0060486)|endodermal cell fate determination (GO:0007493)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|liver development (GO:0001889)|lung saccule development (GO:0060430)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta1 production (GO:0032911)|negative regulation of transforming growth factor beta2 production (GO:0032912)|organ formation (GO:0048645)|outflow tract septum morphogenesis (GO:0003148)|pancreatic A cell differentiation (GO:0003310)|phospholipid metabolic process (GO:0006644)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to growth factor (GO:0070848)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)|tube morphogenesis (GO:0035239)|type B pancreatic cell differentiation (GO:0003309)|Type II pneumocyte differentiation (GO:0060510)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			AACGGGACGTaccaccaccacca	0.749																																					Colon(8;48 282 46199 46856)|Melanoma(177;170 2725 12489 26999)	ENST00000269216.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18						c.(967-972)tac>t		GATA binding protein 6				7,118,1445		1,0,5,26,66,687						2.8	1.0			1	3,218,2733		1,0,1,71,76,1328	no	codingComplex	GATA6	NM_005257.3		2,0,6,97,142,2015	A1A1,A1A2,A1R,A2A2,A2R,RR		7.4814,7.9618,7.6481				10,336,4178				SO:0001651	inframe_deletion	2627				blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chr18:19752073_19752075delACC	U66075	CCDS11872.1	18q11-q12	2013-01-25	2001-11-28		ENSG00000141448	ENSG00000141448		"""GATA zinc finger domain containing"""	4174	protein-coding gene	gene with protein product		601656	"""GATA-binding protein 6"""			8975704	Standard	XM_005258248		Approved		uc002ktt.2	Q92908	OTTHUMG00000131767	ENST00000269216.3:c.968_970delACC	18.37:g.19752082_19752084delACC	ENSP00000269216:p.His333del					GATA6_ENST00000581694.1_In_Frame_Del_p.YH323del	p.YH323del	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	STAD - Stomach adenocarcinoma(5;0.106)		2	1245_1247	+	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		323					B0YJ17|P78327	In_Frame_Del	DEL	ENST00000269216.3	37	c.968_970delACC	CCDS11872.1																																																																																				0.749	GATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254696.1	NM_005257		3	5						3	5	---	---	---	---
TBL1X	6907	broad.mit.edu	37	X	9656280	9656280	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XK-AAJT-01A-11D-A41K-08	TCGA-XK-AAJT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21e0de1c-8cdc-4b26-ba3f-e13f863af312	8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3	g.chrX:9656280delC	ENST00000217964.7	+	7	1221	c.581delC	c.(580-582)acgfs	p.T194fs	TBL1X_ENST00000407597.2_Frame_Shift_Del_p.T194fs|TBL1X_ENST00000536365.1_Frame_Shift_Del_p.T143fs|TBL1X_ENST00000424279.1_Frame_Shift_Del_p.T143fs|TBL1X_ENST00000380961.1_Frame_Shift_Del_p.T143fs	NM_005647.3	NP_005638.1	O60907	TBL1X_HUMAN	transducin (beta)-like 1X-linked	194					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				AGAGAGGCCACGGTGAATGGG	0.612																																						ENST00000217964.7																			0				breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20						c.(580-582)agfs		transducin (beta)-like 1X-linked																																				SO:0001589	frameshift_variant	6907				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:9656280delC	Y12781	CCDS14133.1, CCDS48078.1	Xp22.3	2013-01-10	2002-05-22	2002-05-24	ENSG00000101849	ENSG00000101849		"""WD repeat domain containing"""	11585	protein-coding gene	gene with protein product		300196	"""transducin (beta)-like 1"""	TBL1		10330347	Standard	NM_005647		Approved	EBI	uc004csr.3	O60907	OTTHUMG00000021117	ENST00000217964.7:c.581delC	X.37:g.9656280delC	ENSP00000217964:p.Thr194fs					TBL1X_ENST00000536365.1_Frame_Shift_Del_p.T143fs|TBL1X_ENST00000407597.2_Frame_Shift_Del_p.T194fs|TBL1X_ENST00000380961.1_Frame_Shift_Del_p.T143fs|TBL1X_ENST00000424279.1_Frame_Shift_Del_p.T143fs	p.T194fs	NM_005647.3	NP_005638.1	O60907	TBL1X_HUMAN			7	1221	+		Hepatocellular(5;0.000888)	194					A8K044|A8K4J7|Q86UY2	Frame_Shift_Del	DEL	ENST00000217964.7	37	c.581delC	CCDS14133.1																																																																																				0.612	TBL1X-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055709.1	NM_005647		2	4						2	4	---	---	---	---
