#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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
KLHL21	9903	broad.mit.edu	37	1	6659137	6659137	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr1:6659137G>A	ENST00000377658.4	-	2	1448	c.1397C>T	c.(1396-1398)gCg>gTg	p.A466V	KLHL21_ENST00000463043.1_Missense_Mutation_p.A99V|KLHL21_ENST00000377663.3_Missense_Mutation_p.A466V|KLHL21_ENST00000467612.1_Missense_Mutation_p.A99V	NM_014851.2	NP_055666.2	Q9UJP4	KLH21_HUMAN	kelch-like family member 21	466					chromosome passenger complex localization to spindle midzone (GO:0035853)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|regulation of cytokinesis (GO:0032465)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|polar microtubule (GO:0005827)		p.A466V(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|prostate(2)	8	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.4e-05)|Kidney(185;4.95e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000528)|KIRC - Kidney renal clear cell carcinoma(229;0.000927)|STAD - Stomach adenocarcinoma(132;0.0172)|READ - Rectum adenocarcinoma(331;0.0644)		GTTTAGAGTCGCAGTCTTGGG	0.592																																						ENST00000377663.3																			1	Substitution - Missense(1)	p.A466V(1)	prostate(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|prostate(2)	8						c.(1396-1398)gCg>gTg		kelch-like family member 21							33.0	33.0	33.0					1																	6659137		2203	4300	6503	SO:0001583	missense	9903				anaphase|cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|polar microtubule		g.chr1:6659137G>A	AK090472	CCDS30575.1	1p36	2013-01-30	2013-01-30		ENSG00000162413	ENSG00000162413		"""Kelch-like"", ""BTB/POZ domain containing"""	29041	protein-coding gene	gene with protein product			"""kelch-like 21 (Drosophila)"""				Standard	XM_005263542		Approved	KIAA0469	uc001aoa.3	Q9UJP4	OTTHUMG00000001437	ENST00000377658.4:c.1397C>T	1.37:g.6659137G>A	ENSP00000366886:p.Ala466Val					KLHL21_ENST00000467612.1_Missense_Mutation_p.A99V|KLHL21_ENST00000377658.4_Missense_Mutation_p.A466V|KLHL21_ENST00000463043.1_Missense_Mutation_p.A99V	p.A466V			Q9UJP4	KLH21_HUMAN		Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.4e-05)|Kidney(185;4.95e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000528)|KIRC - Kidney renal clear cell carcinoma(229;0.000927)|STAD - Stomach adenocarcinoma(132;0.0172)|READ - Rectum adenocarcinoma(331;0.0644)	2	1580	-	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	466					B3KQP2|O75057|Q5SY26|Q5SY28|Q8N4I6|Q8NF10	Missense_Mutation	SNP	ENST00000377658.4	37	c.1397C>T	CCDS30575.1	.	.	.	.	.	.	.	.	.	.	G	8.510	0.866325	0.17250	.	.	ENSG00000162413	ENST00000377658;ENST00000377663	T;T	0.64260	-0.09;-0.09	5.14	4.01	0.46588	Galactose oxidase, beta-propeller (1);	0.056572	0.64402	N	0.000001	T	0.34164	0.0888	N	0.03983	-0.305	0.28857	N	0.895722	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17776	-1.0358	10	0.12766	T	0.61	.	10.5895	0.45302	0.9235:0.0:0.0764:0.0	.	466;466	Q9UJP4;Q9UJP4-2	KLH21_HUMAN;.	V	466	ENSP00000366886:A466V;ENSP00000366891:A466V	ENSP00000366886:A466V	A	-	2	0	KLHL21	6581724	1.000000	0.71417	0.995000	0.50966	0.895000	0.52256	5.905000	0.69893	0.893000	0.36288	-0.294000	0.09567	GCG		0.592	KLHL21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004188.1	NM_014851		3	21	3	21	---	---	---	---
USP48	84196	broad.mit.edu	37	1	22056252	22056252	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr1:22056252C>A	ENST00000308271.9	-	10	1893	c.1245G>T	c.(1243-1245)atG>atT	p.M415I	USP48_ENST00000529637.1_Missense_Mutation_p.M414I|USP48_ENST00000421625.2_Missense_Mutation_p.M415I|USP48_ENST00000400301.1_Missense_Mutation_p.M415I	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	415	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)	p.M415I(2)		NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		TATAAACCAACATATATGCAT	0.398																																						ENST00000308271.9																			2	Substitution - Missense(2)	p.M415I(2)	prostate(1)|endometrium(1)	NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1243-1245)atG>atT		ubiquitin specific peptidase 48							205.0	183.0	190.0					1																	22056252		2203	4300	6503	SO:0001583	missense	84196				ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:22056252C>A	AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"""Ubiquitin-specific peptidases"""	18533	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"", ""ubiquitin specific protease 48"""	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.1245G>T	1.37:g.22056252C>A	ENSP00000309262:p.Met415Ile					USP48_ENST00000529637.1_Missense_Mutation_p.M414I|USP48_ENST00000421625.2_Missense_Mutation_p.M415I|USP48_ENST00000400301.1_Missense_Mutation_p.M415I	p.M415I	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)	10	1893	-		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	415					B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000308271.9	37	c.1245G>T	CCDS30623.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.743448	0.89663	.	.	ENSG00000090686	ENST00000400301;ENST00000308271;ENST00000529637;ENST00000526044;ENST00000534705;ENST00000421625	T;T;T;T	0.04758	3.56;3.56;3.56;3.56	5.59	5.59	0.84812	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.23649	0.0572	M	0.74258	2.255	0.80722	D	1	B;P;B;P;D;D	0.76494	0.078;0.861;0.105;0.481;0.999;0.99	B;P;B;B;D;D	0.83275	0.11;0.765;0.148;0.283;0.996;0.95	T	0.00062	-1.2158	10	0.87932	D	0	.	18.9536	0.92649	0.0:1.0:0.0:0.0	.	414;415;415;415;415;415	B7ZKS7;B7ZKS3;Q86UV5-7;Q86UV5-3;Q86UV5-2;Q86UV5	.;.;.;.;.;UBP48_HUMAN	I	415;415;414;1;37;415	ENSP00000383157:M415I;ENSP00000309262:M415I;ENSP00000431949:M414I;ENSP00000406256:M415I	ENSP00000309262:M415I	M	-	3	0	USP48	21928839	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	7.303000	0.78871	2.782000	0.95742	0.557000	0.71058	ATG		0.398	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021372.1	NM_032236		11	304	11	304	---	---	---	---
PLK3	1263	broad.mit.edu	37	1	45269352	45269352	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr1:45269352G>T	ENST00000372201.4	+	9	1392	c.1153G>T	c.(1153-1155)Gcc>Tcc	p.A385S	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	385					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic microtubule organization (GO:0031122)|endomitotic cell cycle (GO:0007113)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi disassembly (GO:0090166)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G1/S transition checkpoint (GO:0044819)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell division (GO:0051302)|regulation of cytokinesis (GO:0032465)|response to osmotic stress (GO:0006970)|response to radiation (GO:0009314)|response to reactive oxygen species (GO:0000302)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi stack (GO:0005795)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)	p.A346S(1)		endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					CCATCAGGATGCCAGGCCAGA	0.597																																						ENST00000372201.4																			1	Substitution - Missense(1)	p.A346S(1)	prostate(1)	endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1153-1155)Gcc>Tcc		polo-like kinase 3							62.0	50.0	54.0					1																	45269352		2203	4300	6503	SO:0001583	missense	1263					membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:45269352G>T	AJ293866	CCDS515.1	1p34.1	2013-01-18	2010-06-24	2004-01-28	ENSG00000173846	ENSG00000173846			2154	protein-coding gene	gene with protein product		602913	"""cytokine-inducible kinase"", ""polo-like kinase 3 (Drosophila)"""	CNK		8702627	Standard	NM_004073		Approved	FNK, PRK	uc001cmn.3	Q9H4B4	OTTHUMG00000008491	ENST00000372201.4:c.1153G>T	1.37:g.45269352G>T	ENSP00000361275:p.Ala385Ser					PLK3_ENST00000465443.1_3'UTR	p.A385S	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN			9	1392	+	Acute lymphoblastic leukemia(166;0.155)		385					Q15767|Q5JR99|Q96CV1	Missense_Mutation	SNP	ENST00000372201.4	37	c.1153G>T	CCDS515.1	.	.	.	.	.	.	.	.	.	.	G	1.260	-0.616067	0.03663	.	.	ENSG00000173846	ENST00000372201;ENST00000543983	T	0.66280	-0.2	5.54	4.59	0.56863	.	.	.	.	.	T	0.36358	0.0964	N	0.04090	-0.28	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.02668	-1.1126	9	0.02654	T	1	-12.4819	14.1025	0.65065	0.0:0.2699:0.7301:0.0	.	385	Q9H4B4	PLK3_HUMAN	S	385;360	ENSP00000361275:A385S	ENSP00000361275:A385S	A	+	1	0	PLK3	45041939	0.618000	0.27051	1.000000	0.80357	0.895000	0.52256	1.346000	0.33964	2.607000	0.88179	0.561000	0.74099	GCC		0.597	PLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023429.1	NM_004073		7	38	7	38	---	---	---	---
PLA2G4A	5321	broad.mit.edu	37	1	186915809	186915809	+	Silent	SNP	A	A	G			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr1:186915809A>G	ENST00000367466.3	+	11	1226	c.1074A>G	c.(1072-1074)aaA>aaG	p.K358K	PLA2G4A_ENST00000442353.2_Silent_p.K298K	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	358	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)	p.K358K(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	GCATGGCTAAATATGGTACTT	0.358																																						ENST00000367466.3																			2	Substitution - coding silent(2)	p.K358K(2)	prostate(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53						c.(1072-1074)aaA>aaG		phospholipase A2, group IVA (cytosolic, calcium-dependent)	Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)						97.0	96.0	96.0					1																	186915809		2203	4298	6501	SO:0001819	synonymous_variant	5321				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr1:186915809A>G	M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.1074A>G	1.37:g.186915809A>G						PLA2G4A_ENST00000442353.2_Silent_p.K298K	p.K358K	NM_024420.2	NP_077734	P47712	PA24A_HUMAN			11	1226	+			358			PLA2c.		B1AKG4|Q29R80	Silent	SNP	ENST00000367466.3	37	c.1074A>G	CCDS1372.1																																																																																				0.358	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086236.1	NM_024420		23	121	23	121	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168105389	168105389	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr2:168105389C>T	ENST00000409195.1	+	9	7576	c.7487C>T	c.(7486-7488)tCt>tTt	p.S2496F	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S2274F|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S2496F|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2321					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.S2496F(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TCTATTGACTCTGCAAACTGT	0.398																																						ENST00000409195.1																			1	Substitution - Missense(1)	p.S2496F(1)	prostate(1)	NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(7486-7488)tCt>tTt		xin actin-binding repeat containing 2							83.0	79.0	80.0					2																	168105389		1895	4116	6011	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168105389C>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.7487C>T	2.37:g.168105389C>T	ENSP00000386840:p.Ser2496Phe					XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S2274F|XIRP2_ENST00000295237.9_Missense_Mutation_p.S2496F|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron	p.S2496F	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	7576	+			2321					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.7487C>T	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.216718	0.58452	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02737	4.18;4.18;4.18	5.52	5.52	0.82312	.	0.312135	0.30771	N	0.008905	T	0.12178	0.0296	M	0.63428	1.95	0.80722	D	1	D;D;D	0.71674	0.996;0.998;0.998	P;D;D	0.66847	0.887;0.947;0.947	T	0.00023	-1.2331	10	0.62326	D	0.03	-15.9405	14.8168	0.70041	0.0:1.0:0.0:0.0	.	2321;2321;2274	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	F	2496;2496;2274	ENSP00000386840:S2496F;ENSP00000295237:S2496F;ENSP00000387255:S2274F	ENSP00000295237:S2496F	S	+	2	0	XIRP2	167813635	0.001000	0.12720	0.260000	0.24451	0.340000	0.28889	1.252000	0.32874	2.875000	0.98604	0.643000	0.83706	TCT		0.398	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		9	172	9	172	---	---	---	---
HYAL3	8372	broad.mit.edu	37	3	50332156	50332156	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr3:50332156C>A	ENST00000336307.1	-	2	1150	c.878G>T	c.(877-879)gGg>gTg	p.G293V	HYAL3_ENST00000450982.1_Missense_Mutation_p.G293V|HYAL3_ENST00000513170.1_Missense_Mutation_p.G44V|HYAL3_ENST00000415204.1_Missense_Mutation_p.G44V|IFRD2_ENST00000417626.2_5'Flank|IFRD2_ENST00000484043.1_5'Flank|IFRD2_ENST00000436390.1_5'Flank|IFRD2_ENST00000336089.4_5'Flank|IFRD2_ENST00000429673.2_5'Flank|HYAL3_ENST00000359051.3_Missense_Mutation_p.G293V	NM_001200029.1|NM_003549.3	NP_001186958.1|NP_003540.2	O43820	HYAL3_HUMAN	hyaluronoglucosaminidase 3	293					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|hyaluronan catabolic process (GO:0030214)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)|response to virus (GO:0009615)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|lysosome (GO:0005764)	hyaluronoglucuronidase activity (GO:0033906)|hyalurononglucosaminidase activity (GO:0004415)	p.G293V(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CAGGAACCTCCCAGATCTCCG	0.612																																						ENST00000336307.1																			1	Substitution - Missense(1)	p.G293V(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						c.(877-879)gGg>gTg		hyaluronoglucosaminidase 3							60.0	59.0	59.0					3																	50332156		2203	4300	6503	SO:0001583	missense	8372				carbohydrate metabolic process	extracellular region|lysosome	hyalurononglucosaminidase activity	g.chr3:50332156C>A	AF040710	CCDS2815.1, CCDS56259.1, CCDS56260.1, CCDS56257.1	3p21.3	2004-03-12			ENSG00000186792	ENSG00000186792			5322	protein-coding gene	gene with protein product		604038				10493834	Standard	NM_003549		Approved	LUCA-3, LUCA14, Minna14	uc021wyn.1	O43820	OTTHUMG00000156936	ENST00000336307.1:c.878G>T	3.37:g.50332156C>A	ENSP00000337425:p.Gly293Val					HYAL3_ENST00000415204.1_Missense_Mutation_p.G44V|HYAL3_ENST00000450982.1_Missense_Mutation_p.G293V|HYAL3_ENST00000359051.3_Missense_Mutation_p.G293V|HYAL3_ENST00000513170.1_Missense_Mutation_p.G44V	p.G293V	NM_001200029.1|NM_003549.3	NP_001186958.1|NP_003540.2	O43820	HYAL3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	2	1150	-			293					O60540|Q8NFK2|Q8NFK3|Q8NFK4|Q96E56|Q9BRW9	Missense_Mutation	SNP	ENST00000336307.1	37	c.878G>T	CCDS2815.1	.	.	.	.	.	.	.	.	.	.	C	9.690	1.151650	0.21371	.	.	ENSG00000186792	ENST00000359051;ENST00000336307;ENST00000415204;ENST00000513170;ENST00000450982	T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0	5.26	4.39	0.52855	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.524546	0.17242	U	0.181517	T	0.16981	0.0408	L	0.49455	1.56	0.32113	N	0.589059	P;P;P;P	0.41848	0.634;0.493;0.684;0.763	B;B;B;B	0.36845	0.234;0.085;0.197;0.178	T	0.17837	-1.0356	10	0.36615	T	0.2	-13.5646	6.5225	0.22283	0.1796:0.7285:0.0:0.0919	.	44;44;293;293	O43820-4;O43820-3;O43820;O43820-2	.;.;HYAL3_HUMAN;.	V	293;293;44;44;293	ENSP00000351946:G293V;ENSP00000337425:G293V;ENSP00000401092:G44V;ENSP00000424633:G44V;ENSP00000391922:G293V	ENSP00000337425:G293V	G	-	2	0	HYAL3	50307160	0.000000	0.05858	0.962000	0.40283	0.984000	0.73092	0.372000	0.20467	1.218000	0.43458	0.563000	0.77884	GGG		0.612	HYAL3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000346664.1	NM_003549		27	119	27	119	---	---	---	---
SENP7	57337	broad.mit.edu	37	3	101049201	101049201	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr3:101049201A>G	ENST00000394095.2	-	20	2781	c.2728T>C	c.(2728-2730)Tct>Cct	p.S910P	SENP7_ENST00000394094.2_Missense_Mutation_p.S845P|SENP7_ENST00000394091.1_Missense_Mutation_p.S746P|SENP7_ENST00000358203.3_Missense_Mutation_p.S746P|SENP7_ENST00000314261.7_Missense_Mutation_p.S844P|SENP7_ENST00000348610.3_Missense_Mutation_p.S877P|SENP7_ENST00000394085.3_Missense_Mutation_p.S98P	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	910	Protease.					intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GCACTCAAAGACAGTGTCGAA	0.328																																						ENST00000394095.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(2728-2730)Tct>Cct		SUMO1/sentrin specific peptidase 7							106.0	103.0	104.0					3																	101049201		2203	4300	6503	SO:0001583	missense	57337				proteolysis	nucleus	cysteine-type peptidase activity	g.chr3:101049201A>G		CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"""SUMO1/sentrin specific protease 7"""			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.2728T>C	3.37:g.101049201A>G	ENSP00000377655:p.Ser910Pro					SENP7_ENST00000394085.3_Missense_Mutation_p.S98P|SENP7_ENST00000394094.2_Missense_Mutation_p.S845P|SENP7_ENST00000348610.3_Missense_Mutation_p.S877P|SENP7_ENST00000314261.7_Missense_Mutation_p.S844P|SENP7_ENST00000394091.1_Missense_Mutation_p.S746P|SENP7_ENST00000358203.3_Missense_Mutation_p.S746P	p.S910P	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN			20	2781	-			910			Protease.		A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Missense_Mutation	SNP	ENST00000394095.2	37	c.2728T>C	CCDS2941.2	.	.	.	.	.	.	.	.	.	.	A	13.50	2.256085	0.39896	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261;ENST00000394091;ENST00000358203;ENST00000394085;ENST00000348610	T;T;T;T;T;T;T	0.31510	2.13;2.14;2.14;2.12;2.12;1.49;2.14	5.46	4.28	0.50868	.	0.555479	0.19217	N	0.119786	T	0.44286	0.1286	L	0.51914	1.62	0.09310	N	1	D;D;D;D;P	0.60160	0.969;0.987;0.984;0.98;0.728	P;P;P;P;B	0.62649	0.656;0.905;0.844;0.821;0.24	T	0.24621	-1.0155	10	0.62326	D	0.03	-0.2449	9.4605	0.38781	0.8212:0.1788:0.0:0.0	.	746;844;877;910;98	Q9BQF6-4;Q9BQF6-5;Q9BQF6-2;Q9BQF6;Q9BQF6-3	.;.;.;SENP7_HUMAN;.	P	910;845;844;746;746;98;877	ENSP00000377655:S910P;ENSP00000377654:S845P;ENSP00000313624:S844P;ENSP00000377651:S746P;ENSP00000350936:S746P;ENSP00000377647:S98P;ENSP00000342159:S877P	ENSP00000313624:S844P	S	-	1	0	SENP7	102531891	0.284000	0.24287	0.006000	0.13384	0.327000	0.28475	1.405000	0.34635	0.884000	0.36064	0.383000	0.25322	TCT		0.328	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	NM_020654		3	98	3	98	---	---	---	---
ADRB2	154	broad.mit.edu	37	5	148206406	148206406	+	Silent	SNP	C	C	T			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr5:148206406C>T	ENST00000305988.4	+	1	251	c.12C>T	c.(10-12)ccC>ccT	p.P4P		NM_000024.5	NP_000015	P07550	ADRB2_HUMAN	adrenoceptor beta 2, surface	4					activation of adenylate cyclase activity (GO:0007190)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|bone resorption (GO:0045453)|brown fat cell differentiation (GO:0050873)|cell surface receptor signaling pathway (GO:0007166)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|diet induced thermogenesis (GO:0002024)|endosome to lysosome transport (GO:0008333)|heat generation (GO:0031649)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of smooth muscle contraction (GO:0045986)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor-mediated endocytosis (GO:0006898)|regulation of sodium ion transport (GO:0002028)|regulation of vasodilation (GO:0042312)|response to cold (GO:0009409)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	beta2-adrenergic receptor activity (GO:0004941)|norepinephrine binding (GO:0051380)|potassium channel regulator activity (GO:0015459)|protein homodimerization activity (GO:0042803)	p.P4P(1)		endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Acebutolol(DB01193)|Alprenolol(DB00866)|Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Arformoterol(DB01274)|Asenapine(DB06216)|Atenolol(DB00335)|Bambuterol(DB01408)|Betaxolol(DB00195)|Bethanidine(DB00217)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bopindolol(DB08807)|Bupranolol(DB08808)|Cabergoline(DB00248)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Dipivefrin(DB00449)|Dobutamine(DB00841)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Indacaterol(DB05039)|Isoetarine(DB00221)|Isoprenaline(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Mephentermine(DB01365)|Metipranolol(DB01214)|Metoprolol(DB00264)|Mirtazapine(DB00370)|Nadolol(DB01203)|Nebivolol(DB04861)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Phenoxybenzamine(DB00925)|Phenylpropanolamine(DB00397)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Sotalol(DB00489)|Terbutaline(DB00871)|Timolol(DB00373)|Trimipramine(DB00726)	TGGGGCAACCCGGGAACGGCA	0.726																																						ENST00000305988.4																			1	Substitution - coding silent(1)	p.P4P(1)	prostate(1)	endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14						c.(10-12)ccC>ccT		adrenoceptor beta 2, surface	Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)						64.0	67.0	66.0					5																	148206406		2203	4300	6503	SO:0001819	synonymous_variant	154				activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity	g.chr5:148206406C>T	AF022953	CCDS4292.1	5q31-q32	2012-08-08	2012-05-09		ENSG00000169252	ENSG00000169252		"""GPCR / Class A : Adrenoceptors : beta"""	286	protein-coding gene	gene with protein product		109690	"""adrenergic, beta-2-, receptor, surface"""	ADRB2R			Standard	NM_000024		Approved	ADRBR, BAR, B2AR	uc003lpr.2	P07550	OTTHUMG00000129933	ENST00000305988.4:c.12C>T	5.37:g.148206406C>T							p.P4P	NM_000024.5	NP_000015	P07550	ADRB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	251	+			4					B0LPE4|B2R7X2|O14823|O14824|O14825|O14826|Q4JG18|Q53GA6|Q6GMT4|Q6P4D8|Q8NEQ9|Q96EC3|Q9UCZ0|Q9UCZ1|Q9UCZ2|Q9UCZ3|Q9UH95|Q9UHA1|Q9UMZ5	Silent	SNP	ENST00000305988.4	37	c.12C>T	CCDS4292.1																																																																																				0.726	ADRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252189.1	NM_000024		7	88	7	88	---	---	---	---
ZNF292	23036	broad.mit.edu	37	6	87969899	87969899	+	Silent	SNP	A	A	G			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr6:87969899A>G	ENST00000369577.3	+	8	6595	c.6552A>G	c.(6550-6552)caA>caG	p.Q2184Q	ZNF292_ENST00000339907.4_Silent_p.Q2179Q	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2184						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.Q2039Q(1)|p.Q2184Q(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GAATTTTCCAAGCAATTACTG	0.363																																						ENST00000369577.3																			2	Substitution - coding silent(2)	p.Q2039Q(1)|p.Q2184Q(1)	prostate(2)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(6550-6552)caA>caG		zinc finger protein 292							195.0	193.0	194.0					6																	87969899		1856	4095	5951	SO:0001819	synonymous_variant	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87969899A>G	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.6552A>G	6.37:g.87969899A>G						ZNF292_ENST00000339907.4_Silent_p.Q2179Q	p.Q2184Q	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	6595	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	2184					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Silent	SNP	ENST00000369577.3	37	c.6552A>G	CCDS47457.1																																																																																				0.363	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		8	449	8	449	---	---	---	---
PLEKHG1	57480	broad.mit.edu	37	6	151161999	151161999	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr6:151161999A>C	ENST00000358517.2	+	16	4336	c.4125A>C	c.(4123-4125)aaA>aaC	p.K1375N	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.K1375N			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	1375							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.K1375N(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		TAAGGGAAAAATTTCAGTGTC	0.363																																						ENST00000367328.1																			1	Substitution - Missense(1)	p.K1375N(1)	prostate(1)	breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53						c.(4123-4125)aaA>aaC		pleckstrin homology domain containing, family G (with RhoGef domain) member 1							69.0	70.0	70.0					6																	151161999		2203	4300	6503	SO:0001583	missense	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151161999A>C	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.4125A>C	6.37:g.151161999A>C	ENSP00000351318:p.Lys1375Asn					PLEKHG1_ENST00000358517.2_Missense_Mutation_p.K1375N	p.K1375N	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	17	4437	+			1375					Q5T1F2	Missense_Mutation	SNP	ENST00000358517.2	37	c.4125A>C	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	A	18.72	3.684202	0.68157	.	.	ENSG00000120278	ENST00000367328;ENST00000358517	T;T	0.72615	-0.67;-0.67	5.7	0.626	0.17670	.	0.000000	0.85682	D	0.000000	T	0.73140	0.3549	M	0.68952	2.095	0.43360	D	0.995439	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.75210	-0.3398	10	0.87932	D	0	.	10.3933	0.44185	0.644:0.0:0.356:0.0	.	1182;1375	Q5EBL9;Q9ULL1	.;PKHG1_HUMAN	N	1375	ENSP00000356297:K1375N;ENSP00000351318:K1375N	ENSP00000351318:K1375N	K	+	3	2	PLEKHG1	151203692	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.418000	0.34782	0.114000	0.18032	0.533000	0.62120	AAA		0.363	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			28	195	28	195	---	---	---	---
GTF2IRD1P1	729156	broad.mit.edu	37	7	66296183	66296183	+	RNA	SNP	G	G	A			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr7:66296183G>A	ENST00000457166.1	-	0	683					NR_003934.1				GTF2I repeat domain containing 1 pseusogene 1																		CATTTCTTACGTGTCAGCATC	0.567																																						ENST00000457166.1																			0																																																			729156							g.chr7:66296183G>A			7q11.21	2012-06-29			ENSG00000230583	ENSG00000230583			44136	pseudogene	pseudogene							Standard	NR_003934		Approved		uc003tvj.1		OTTHUMG00000156927		7.37:g.66296183G>A								NR_003934.1						0	683	-									RNA	SNP	ENST00000457166.1	37																																																																																						0.567	GTF2IRD1P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000346561.1	NR_003934		6	39	6	39	---	---	---	---
ABCB4	5244	broad.mit.edu	37	7	87104731	87104731	+	Silent	SNP	C	C	T			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr7:87104731C>T	ENST00000265723.4	-	2	162	c.51G>A	c.(49-51)gcG>gcA	p.A17A	ABCB4_ENST00000545634.1_Silent_p.A17A|ABCB4_ENST00000453593.1_Silent_p.A17A|ABCB4_ENST00000358400.3_Silent_p.A17A|ABCB4_ENST00000359206.3_Silent_p.A17A	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	17					cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)	p.A17A(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	AGTCGCCCTCCGCGCTCGTGG	0.577																																						ENST00000265723.4																			1	Substitution - coding silent(1)	p.A17A(1)	prostate(1)	breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(49-51)gcG>gcA		ATP-binding cassette, sub-family B (MDR/TAP), member 4							76.0	70.0	72.0					7																	87104731		2203	4300	6503	SO:0001819	synonymous_variant	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87104731C>T	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.51G>A	7.37:g.87104731C>T						ABCB4_ENST00000453593.1_Silent_p.A17A|ABCB4_ENST00000358400.3_Silent_p.A17A|ABCB4_ENST00000359206.3_Silent_p.A17A|ABCB4_ENST00000545634.1_Silent_p.A17A	p.A17A	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN			2	162	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		17					A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Silent	SNP	ENST00000265723.4	37	c.51G>A	CCDS5606.1																																																																																				0.577	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		13	93	13	93	---	---	---	---
KCNMA1	3778	broad.mit.edu	37	10	78647070	78647070	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr10:78647070C>A	ENST00000286628.8	-	28	3664	c.3665G>T	c.(3664-3666)aGg>aTg	p.R1222M	KCNMA1_ENST00000406533.3_Missense_Mutation_p.R1226M|KCNMA1_ENST00000286627.5_Missense_Mutation_p.R1164M|RP11-443A13.5_ENST00000429850.2_RNA|KCNMA1_ENST00000372443.1_Missense_Mutation_p.R1191M|KCNMA1_ENST00000354353.5_Missense_Mutation_p.R1225M|RP11-443A13.5_ENST00000595702.1_RNA|RP11-443A13.5_ENST00000458661.2_RNA|RP11-443A13.5_ENST00000609102.1_RNA|KCNMA1_ENST00000404857.1_Missense_Mutation_p.R1205M|KCNMA1_ENST00000372440.1_Missense_Mutation_p.R1164M|KCNMA1_ENST00000404771.3_Missense_Mutation_p.R1222M	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1222					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.R1164M(2)|p.R1226M(2)		breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	CCGGGACTCCCTGGACTTGGG	0.552																																						ENST00000286627.5																			4	Substitution - Missense(4)	p.R1164M(2)|p.R1226M(2)	prostate(2)|lung(2)	breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68						c.(3490-3492)aGg>aTg		potassium large conductance calcium-activated channel, subfamily M, alpha member 1	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)						168.0	157.0	161.0					10																	78647070		2203	4300	6503	SO:0001583	missense	3778				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	g.chr10:78647070C>A	U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.3665G>T	10.37:g.78647070C>A	ENSP00000286628:p.Arg1222Met					KCNMA1_ENST00000286628.8_Missense_Mutation_p.R1222M|KCNMA1_ENST00000406533.3_Missense_Mutation_p.R1226M|KCNMA1_ENST00000372440.1_Missense_Mutation_p.R1164M|KCNMA1_ENST00000404857.1_Missense_Mutation_p.R1205M|KCNMA1_ENST00000404771.3_Missense_Mutation_p.R1222M|KCNMA1_ENST00000372443.1_Missense_Mutation_p.R1191M|KCNMA1_ENST00000354353.5_Missense_Mutation_p.R1225M	p.R1164M	NM_001271519.1|NM_002247.3	NP_001258448.1|NP_002238.2	Q12791	KCMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		27	4443	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		1222					F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	ENST00000286628.8	37	c.3491G>T		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	24.0|24.0|24.0	4.484475|4.484475|4.484475	0.84854|0.84854|0.84854	.|.|.	.|.|.	ENSG00000156113|ENSG00000156113|ENSG00000156113	ENST00000372403|ENST00000372421;ENST00000434208|ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708	.|.|D;D;D;D;D;D;D;D;D	.|.|0.87491	.|.|-2.01;-2.26;-1.97;-1.99;-2.03;-2.0;-1.98;-2.0;-2.0	5.21|5.21|5.21	5.21|5.21|5.21	0.72293|0.72293|0.72293	.|.|.	.|.|0.000000	.|.|0.85682	.|.|D	.|.|0.000000	D|D|D	0.87370|0.87370|0.87370	0.6160|0.6160|0.6160	N|N|N	0.08118|0.08118|0.08118	0|0|0	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|D;D;D;D;D;D;D;D	.|.|0.89917	.|.|0.997;0.998;0.999;1.0;0.998;0.996;1.0;0.998	.|.|D;D;D;D;D;D;D;D	.|.|0.91635	.|.|0.997;0.994;0.997;0.998;0.995;0.994;0.999;0.994	D|D|D	0.90365|0.90365|0.90365	0.4376|0.4376|0.4376	5|5|10	.|.|0.59425	.|.|D	.|.|0.04	-12.8174|-12.8174|-12.8174	18.7603|18.7603|18.7603	0.91848|0.91848|0.91848	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|.|1193;1194;1205;1222;1164;975;1225;1191	.|.|Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;C9JFZ9;F8WA96;Q5SVJ7	.|.|.;.;.;KCMA1_HUMAN;.;.;.;.	W|H|M	1115|1152;871|1164;1101;1157;1196;1159;1191;1164;1196;1226;1225;1205;975	.|.|ENSP00000361517:R1164M;ENSP00000361485:R1101M;ENSP00000361514:R1157M;ENSP00000396608:R1196M;ENSP00000361520:R1191M;ENSP00000286627:R1164M;ENSP00000385552:R1226M;ENSP00000346321:R1225M;ENSP00000385806:R1205M	.|.|ENSP00000286627:R1164M	G|Q|R	-|-|-	1|3|2	0|2|0	KCNMA1|KCNMA1|KCNMA1	78317076|78317076|78317076	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.996000|0.996000|0.996000	0.88848|0.88848|0.88848	7.466000|7.466000|7.466000	0.80914|0.80914|0.80914	2.429000|2.429000|2.429000	0.82318|0.82318|0.82318	0.460000|0.460000|0.460000	0.39030|0.39030|0.39030	GGG|CAG|AGG		0.552	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247		13	327	13	327	---	---	---	---
MALAT1	378938	broad.mit.edu	37	11	65269992	65269992	+	lincRNA	SNP	A	A	T	rs538195270		TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr11:65269992A>T	ENST00000534336.1	+	0	4760					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		TGTTTATTTTAAACTTATCTG	0.308																																						ENST00000534336.1																			0																				54.0	58.0	57.0					11																	65269992		874	1988	2862			378938							g.chr11:65269992A>T	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65269992A>T								NR_002819.2						0	4760	+									RNA	SNP	ENST00000534336.1	37																																																																																						0.308	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		4	99	4	99	---	---	---	---
FOLR3	2352	broad.mit.edu	37	11	71850178	71850178	+	Silent	SNP	G	G	T			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr11:71850178G>T	ENST00000445078.2	+	3	533	c.462G>T	c.(460-462)ggG>ggT	p.G154G	FOLR3_ENST00000456237.1_Silent_p.G156G|FOLR3_ENST00000442948.2_Silent_p.G113G			P41439	FOLR3_HUMAN	folate receptor 3 (gamma)	112					folic acid transport (GO:0015884)	extracellular region (GO:0005576)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	folic acid binding (GO:0005542)	p.G156G(1)		large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	CCAACCTGGGGCCCTGGATCC	0.562																																						ENST00000445078.2																			1	Substitution - coding silent(1)	p.G156G(1)	prostate(1)	large_intestine(3)|lung(8)|prostate(2)	13						c.(460-462)ggG>ggT		folate receptor 3 (gamma)	Folic Acid(DB00158)						34.0	39.0	38.0					11																	71850178		2200	4293	6493	SO:0001819	synonymous_variant	2352				folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity	g.chr11:71850178G>T	U08471	CCDS73344.1	11q13.4	2012-11-14			ENSG00000110203	ENSG00000110203			3795	protein-coding gene	gene with protein product		602469				8110752	Standard	NM_000804		Approved	FR-G	uc001orx.1	P41439	OTTHUMG00000167870	ENST00000445078.2:c.462G>T	11.37:g.71850178G>T						FOLR3_ENST00000456237.1_Silent_p.G156G|FOLR3_ENST00000442948.2_Silent_p.G113G	p.G154G			P41439	FOLR3_HUMAN			3	533	+			112					J3KQ90|Q05C14	Silent	SNP	ENST00000445078.2	37	c.462G>T																																																																																					0.562	FOLR3-001	NOVEL	upstream_ATG|basic	protein_coding	protein_coding	OTTHUMT00000396739.1	NM_000804		6	48	6	48	---	---	---	---
FKBP4	2288	broad.mit.edu	37	12	2912357	2912357	+	Missense_Mutation	SNP	C	C	G	rs200588430		TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr12:2912357C>G	ENST00000001008.4	+	10	1500	c.1313C>G	c.(1312-1314)aCa>aGa	p.T438R	RP4-816N1.6_ENST00000552469.1_RNA|RP4-816N1.6_ENST00000547794.1_RNA|RP4-816N1.7_ENST00000547042.1_RNA|RP4-816N1.6_ENST00000547834.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa	438					androgen receptor signaling pathway (GO:0030521)|chaperone-mediated protein folding (GO:0061077)|copper ion transport (GO:0006825)|embryo implantation (GO:0007566)|male sex differentiation (GO:0046661)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)|negative regulation of neuron projection development (GO:0010977)|prostate gland development (GO:0030850)|protein complex localization (GO:0031503)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|steroid hormone receptor complex assembly (GO:0006463)	axonal growth cone (GO:0044295)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|FK506 binding (GO:0005528)|GTP binding (GO:0005525)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)	p.T438R(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)			CCCACTGACACAGAGATGAAG	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		17380	0.0		0.001	False		,,,				2504	0.0					ENST00000001008.4																			1	Substitution - Missense(1)	p.T438R(1)	prostate(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14						c.(1312-1314)aCa>aGa		FK506 binding protein 4, 59kDa	Dimethyl sulfoxide(DB01093)						61.0	47.0	52.0					12																	2912357		2203	4300	6503	SO:0001583	missense	2288				negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding	axonal growth cone|cytosol|membrane|microtubule|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging	g.chr12:2912357C>G	M88279	CCDS8512.1	12p13.33	2013-01-10	2002-08-29		ENSG00000004478	ENSG00000004478		"""Tetratricopeptide (TTC) repeat domain containing"""	3720	protein-coding gene	gene with protein product		600611	"""FK506-binding protein 4 (59kD)"""			1279700	Standard	NM_002014		Approved	FKBP59, FKBP52	uc001qkz.3	Q02790	OTTHUMG00000090429	ENST00000001008.4:c.1313C>G	12.37:g.2912357C>G	ENSP00000001008:p.Thr438Arg					RP4-816N1.7_ENST00000547042.1_RNA|RP4-816N1.6_ENST00000547834.1_RNA	p.T438R	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00105)		10	1500	+			438					D3DUQ1|Q9UCP1|Q9UCV7	Missense_Mutation	SNP	ENST00000001008.4	37	c.1313C>G	CCDS8512.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	0.847	-0.739992	0.03088	.	.	ENSG00000004478	ENST00000001008	D	0.81821	-1.54	4.13	2.22	0.28083	.	1.673620	0.02925	N	0.138476	T	0.67239	0.2872	N	0.24115	0.695	0.09310	N	1	B	0.34103	0.437	B	0.28553	0.091	T	0.54840	-0.8233	10	0.19147	T	0.46	0.9965	7.0363	0.24995	0.0:0.7727:0.0:0.2273	.	438	Q02790	FKBP4_HUMAN	R	438	ENSP00000001008:T438R	ENSP00000001008:T438R	T	+	2	0	FKBP4	2782618	0.000000	0.05858	0.017000	0.16124	0.246000	0.25737	0.288000	0.18939	0.378000	0.24764	0.561000	0.74099	ACA		0.557	FKBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206861.1			2	14	2	14	---	---	---	---
DNM1L	10059	broad.mit.edu	37	12	32871615	32871615	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr12:32871615A>G	ENST00000549701.1	+	7	732	c.658A>G	c.(658-660)Atg>Gtg	p.M220V	DNM1L_ENST00000358214.5_Missense_Mutation_p.M233V|DNM1L_ENST00000266481.6_Missense_Mutation_p.M220V|DNM1L_ENST00000381000.4_Missense_Mutation_p.M233V|DNM1L_ENST00000414834.2_Intron|DNM1L_ENST00000547312.1_Missense_Mutation_p.M220V|DNM1L_ENST00000553257.1_Missense_Mutation_p.M233V|DNM1L_ENST00000452533.2_Missense_Mutation_p.M220V			O00429	DNM1L_HUMAN	dynamin 1-like	220	Dynamin-type G.|GTPase domain.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dynamin polymerization involved in mitochondrial fission (GO:0003374)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|membrane fission involved in mitochondrial fission (GO:0090149)|membrane fusion (GO:0061025)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion morphogenesis (GO:0070584)|necroptotic process (GO:0070266)|peroxisome fission (GO:0016559)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homotetramerization (GO:0051289)|protein localization to mitochondrion (GO:0070585)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|regulation of protein oligomerization (GO:0032459)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|protein complex (GO:0043234)|synapse (GO:0045202)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)	p.M220V(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					ACTTGATCTCATGGATGCGGG	0.388																																						ENST00000452533.2																			1	Substitution - Missense(1)	p.M220V(1)	prostate(1)	cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23						c.(658-660)Atg>Gtg		dynamin 1-like							171.0	158.0	163.0					12																	32871615		2203	4300	6503	SO:0001583	missense	10059				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	g.chr12:32871615A>G	AF000430	CCDS8728.1, CCDS8729.1, CCDS8730.1, CCDS61095.1, CCDS61096.1, CCDS61098.1, CCDS61099.1	12p11.21	2012-10-02			ENSG00000087470	ENSG00000087470			2973	protein-coding gene	gene with protein product		603850				9348079, 9731200	Standard	NM_012062		Approved	DRP1, DVLP, HDYNIV, DYMPLE, VPS1	uc001rld.2	O00429	OTTHUMG00000169451	ENST00000549701.1:c.658A>G	12.37:g.32871615A>G	ENSP00000450399:p.Met220Val					DNM1L_ENST00000266481.6_Missense_Mutation_p.M220V|DNM1L_ENST00000553257.1_Missense_Mutation_p.M233V|DNM1L_ENST00000549701.1_Missense_Mutation_p.M220V|DNM1L_ENST00000381000.4_Missense_Mutation_p.M233V|DNM1L_ENST00000414834.2_Intron|DNM1L_ENST00000547312.1_Missense_Mutation_p.M220V|DNM1L_ENST00000358214.5_Missense_Mutation_p.M233V	p.M220V	NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	O00429	DNM1L_HUMAN			7	822	+	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		220			GTPase domain.		A8K4X9|B4DGC9|B4DSU8|J3KPI2|O14541|O60709|Q59GN9|Q7L6B3|Q8TBT7|Q9BWM1|Q9Y5J2	Missense_Mutation	SNP	ENST00000549701.1	37	c.658A>G	CCDS8729.1	.	.	.	.	.	.	.	.	.	.	A	19.52	3.842484	0.71488	.	.	ENSG00000087470	ENST00000452533;ENST00000411996;ENST00000266479;ENST00000553257;ENST00000549701;ENST00000358214;ENST00000266481;ENST00000547312;ENST00000381000;ENST00000548750	D;D;D;D;D;D;D;D	0.94758	-3.51;-3.51;-3.51;-3.51;-3.51;-3.51;-3.51;-2.89	6.05	6.05	0.98169	Dynamin, GTPase domain (1);	0.097274	0.85682	D	0.000000	D	0.95249	0.8459	L	0.57130	1.785	0.80722	D	1	P;P;P;P;B	0.48230	0.714;0.714;0.834;0.907;0.356	P;B;P;P;B	0.51615	0.512;0.334;0.675;0.512;0.257	D	0.95495	0.8572	10	0.72032	D	0.01	.	16.6	0.84812	1.0:0.0:0.0:0.0	.	273;273;286;273;220	D3DUW6;D3DUW5;F8W8D1;D3DUW7;O00429	.;.;.;.;DNM1L_HUMAN	V	220;286;220;233;220;233;220;220;233;191	ENSP00000415131:M220V;ENSP00000449089:M233V;ENSP00000450399:M220V;ENSP00000350948:M233V;ENSP00000266481:M220V;ENSP00000448610:M220V;ENSP00000370388:M233V;ENSP00000447788:M191V	ENSP00000266479:M220V	M	+	1	0	DNM1L	32762882	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.035000	0.93752	2.323000	0.78572	0.533000	0.62120	ATG		0.388	DNM1L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404124.1	NM_012062		14	312	14	312	---	---	---	---
HAL	3034	broad.mit.edu	37	12	96368030	96368030	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr12:96368030G>A	ENST00000261208.3	-	21	2322	c.1954C>T	c.(1954-1956)Ccg>Tcg	p.P652S	HAL_ENST00000538703.1_3'UTR|HAL_ENST00000541929.1_Missense_Mutation_p.P444S	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	652					biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	histidine ammonia-lyase activity (GO:0004397)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	TCAGACTCCGGGATTTTGGTG	0.428																																					NSCLC(169;943 2815 23563 30031)	ENST00000261208.3																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34						c.(1954-1956)Ccg>Tcg		histidine ammonia-lyase	L-Histidine(DB00117)						151.0	150.0	150.0					12																	96368030		2203	4300	6503	SO:0001583	missense	3034				biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity	g.chr12:96368030G>A		CCDS9058.1, CCDS58264.1, CCDS58265.1	12q22-q24.1	1991-07-12				ENSG00000084110	4.3.1.3		4806	protein-coding gene	gene with protein product		609457		HIS			Standard	NM_002108		Approved		uc001tem.2	P42357	OTTHUMG00000170354	ENST00000261208.3:c.1954C>T	12.37:g.96368030G>A	ENSP00000261208:p.Pro652Ser					HAL_ENST00000541929.1_Missense_Mutation_p.P444S|HAL_ENST00000538703.1_3'UTR	p.P652S	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN			21	2322	-			652					B4DQC1|B4E0V8|F5GXF2|F5H1U5|Q4VB92|Q4VB93	Missense_Mutation	SNP	ENST00000261208.3	37	c.1954C>T	CCDS9058.1	.	.	.	.	.	.	.	.	.	.	G	6.986	0.552042	0.13374	.	.	ENSG00000084110	ENST00000261208;ENST00000541929	T;T	0.76968	-1.06;-0.08	5.41	3.54	0.40534	.	0.404702	0.25774	N	0.028394	T	0.57257	0.2041	N	0.22421	0.69	0.27472	N	0.952847	B	0.24186	0.099	B	0.17098	0.017	T	0.43327	-0.9398	10	0.02654	T	1	-2.0743	9.2654	0.37639	0.0:0.2983:0.5476:0.1541	.	652	P42357	HUTH_HUMAN	S	652;444	ENSP00000261208:P652S;ENSP00000446364:P444S	ENSP00000261208:P652S	P	-	1	0	HAL	94892161	0.968000	0.33430	0.962000	0.40283	0.019000	0.09904	1.552000	0.36244	0.613000	0.30089	-0.176000	0.13171	CCG		0.428	HAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408644.1			6	448	6	448	---	---	---	---
UGGT2	55757	broad.mit.edu	37	13	96579562	96579562	+	Missense_Mutation	SNP	A	A	G	rs540044487	byFrequency	TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr13:96579562A>G	ENST00000376747.3	-	18	2076	c.2006T>C	c.(2005-2007)aTt>aCt	p.I669T		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	669					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)	p.I669T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TAGAAAATCAATTGCATTCGT	0.303													A|||	2	0.000399361	0.0	0.0	5008	,	,		14365	0.0		0.0	False		,,,				2504	0.002					ENST00000376747.3																			1	Substitution - Missense(1)	p.I669T(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						c.(2005-2007)aTt>aCt		UDP-glucose glycoprotein glucosyltransferase 2							73.0	72.0	73.0					13																	96579562		2203	4295	6498	SO:0001583	missense	55757				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity	g.chr13:96579562A>G	AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"""UDP-glucose:glycoprotein glucosyltransferase 2"""	605898	"""UDP-glucose ceramide glucosyltransferase-like 2"""	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.2006T>C	13.37:g.96579562A>G	ENSP00000365938:p.Ile669Thr						p.I669T	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN			18	2076	-			669					A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	ENST00000376747.3	37	c.2006T>C	CCDS9480.1	.	.	.	.	.	.	.	.	.	.	A	13.18	2.161198	0.38119	.	.	ENSG00000102595	ENST00000376747	T	0.27104	1.69	5.95	5.95	0.96441	.	0.265265	0.38217	N	0.001774	T	0.33585	0.0868	M	0.74258	2.255	0.80722	D	1	B	0.30584	0.286	B	0.29598	0.104	T	0.10753	-1.0616	10	0.54805	T	0.06	-4.3721	16.4116	0.83717	1.0:0.0:0.0:0.0	.	669	Q9NYU1	UGGG2_HUMAN	T	669	ENSP00000365938:I669T	ENSP00000365938:I669T	I	-	2	0	UGGT2	95377563	0.998000	0.40836	0.867000	0.34043	0.183000	0.23260	8.078000	0.89507	2.276000	0.75962	0.528000	0.53228	ATT		0.303	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121		6	154	6	154	---	---	---	---
RALGAPA1	253959	broad.mit.edu	37	14	36039876	36039876	+	Silent	SNP	T	T	G			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr14:36039876T>G	ENST00000389698.3	-	38	6315	c.5925A>C	c.(5923-5925)acA>acC	p.T1975T	RALGAPA1_ENST00000382366.3_Silent_p.T1988T|RALGAPA1_ENST00000258840.6_Silent_p.T2022T|RALGAPA1_ENST00000307138.6_Silent_p.T1975T	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1975	Minimal domain that binds to TCF3/E12. {ECO:0000250}.|Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.T1975T(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CATTTATAGCTGTTGCTCTAA	0.363																																						ENST00000258840.6																			2	Substitution - coding silent(2)	p.T1975T(2)	prostate(2)	breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(6064-6066)acA>acC		Ral GTPase activating protein, alpha subunit 1 (catalytic)							54.0	51.0	52.0					14																	36039876		2203	4297	6500	SO:0001819	synonymous_variant	253959				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr14:36039876T>G	AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.5925A>C	14.37:g.36039876T>G						RALGAPA1_ENST00000389698.3_Silent_p.T1975T|RALGAPA1_ENST00000382366.3_Silent_p.T1988T|RALGAPA1_ENST00000307138.6_Silent_p.T1975T	p.T2022T	NM_001283044.1	NP_001269973.1	Q6GYQ0	RGPA1_HUMAN			39	6456	-			1975			Minimal domain that binds to TCF3/E12 (By similarity).		A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Silent	SNP	ENST00000389698.3	37	c.6066A>C	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	T	9.573	1.121586	0.20877	.	.	ENSG00000174373	ENST00000554573	.	.	.	5.96	4.81	0.61882	.	.	.	.	.	T	0.65133	0.2662	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62932	-0.6749	4	.	.	.	-16.1049	12.6772	0.56901	0.1237:0.0:0.0:0.8763	.	.	.	.	P	258	.	.	Q	-	2	0	RALGAPA1	35109627	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.202000	0.42743	1.063000	0.40649	0.533000	0.62120	CAG		0.363	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		4	66	4	66	---	---	---	---
L3HYPDH	112849	broad.mit.edu	37	14	59942813	59942813	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr14:59942813T>G	ENST00000247194.4	-	3	911	c.798A>C	c.(796-798)gaA>gaC	p.E266D	L3HYPDH_ENST00000543619.1_5'Flank|L3HYPDH_ENST00000487285.1_Missense_Mutation_p.E95D	NM_144581.1	NP_653182.1	Q96EM0	T3HPD_HUMAN	L-3-hydroxyproline dehydratase (trans-)	266					metabolic process (GO:0008152)		hydro-lyase activity (GO:0016836)|trans-L-3-hydroxyproline dehydratase activity (GO:0050346)	p.E266D(1)								L-Proline(DB00172)	TTAATACCTGTTCATCTGCAA	0.348																																						ENST00000247194.4																			1	Substitution - Missense(1)	p.E266D(1)	prostate(1)								c.(796-798)gaA>gaC		L-3-hydroxyproline dehydratase (trans-)							139.0	147.0	144.0					14																	59942813		2203	4300	6503	SO:0001583	missense	112849							g.chr14:59942813T>G	AI762327	CCDS9739.1	14q23.1	2012-08-15	2012-08-15	2012-08-15	ENSG00000126790	ENSG00000126790	4.2.1.77		20488	protein-coding gene	gene with protein product	"""trans-L-3-hydroxyproline dehydratase"""	614811	"""chromosome 14 open reading frame 149"""	C14orf149		22528483	Standard	NM_144581		Approved	FLJ25436	uc001xee.1	Q96EM0	OTTHUMG00000028941	ENST00000247194.4:c.798A>C	14.37:g.59942813T>G	ENSP00000247194:p.Glu266Asp					L3HYPDH_ENST00000487285.1_Missense_Mutation_p.E95D	p.E266D	NM_144581.1	NP_653182.1					3	911	-								Q96LJ5	Missense_Mutation	SNP	ENST00000247194.4	37	c.798A>C	CCDS9739.1	.	.	.	.	.	.	.	.	.	.	T	12.06	1.823609	0.32237	.	.	ENSG00000126790	ENST00000247194;ENST00000487285;ENST00000481608	T;T;T	0.16597	2.33;2.33;2.33	5.57	-0.247	0.13019	.	0.391047	0.29653	N	0.011551	T	0.08802	0.0218	N	0.24115	0.695	0.34015	D	0.651973	B	0.06786	0.001	B	0.09377	0.004	T	0.31336	-0.9947	10	0.18710	T	0.47	.	7.7321	0.28793	0.0:0.1375:0.484:0.3785	.	266	Q96EM0	PRCM_HUMAN	D	266;95;95	ENSP00000247194:E266D;ENSP00000431608:E95D;ENSP00000423874:E95D	ENSP00000247194:E266D	E	-	3	2	C14orf149	59012566	0.653000	0.27358	0.952000	0.39060	0.893000	0.52053	-0.333000	0.07894	0.020000	0.15106	-0.435000	0.05868	GAA		0.348	L3HYPDH-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072254.5	NM_144581		8	362	8	362	---	---	---	---
WDR72	256764	broad.mit.edu	37	15	54006701	54006701	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr15:54006701G>T	ENST00000396328.1	-	6	760	c.521C>A	c.(520-522)tCt>tAt	p.S174Y	WDR72_ENST00000559418.1_Missense_Mutation_p.S174Y|WDR72_ENST00000360509.5_Missense_Mutation_p.S174Y|WDR72_ENST00000557913.1_Missense_Mutation_p.S173Y	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	174								p.S174Y(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		CACCAAGAGAGAATCTTCTGT	0.383																																						ENST00000396328.1																			1	Substitution - Missense(1)	p.S174Y(1)	prostate(1)	NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71						c.(520-522)tCt>tAt		WD repeat domain 72							85.0	84.0	85.0					15																	54006701		2194	4293	6487	SO:0001583	missense	256764							g.chr15:54006701G>T	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.521C>A	15.37:g.54006701G>T	ENSP00000379619:p.Ser174Tyr					WDR72_ENST00000559418.1_Missense_Mutation_p.S174Y|WDR72_ENST00000557913.1_Missense_Mutation_p.S173Y|WDR72_ENST00000360509.5_Missense_Mutation_p.S174Y	p.S174Y	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	6	760	-			174					Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	c.521C>A	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.844588	0.71488	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.01221	5.15;5.15	5.87	5.87	0.94306	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.64402	D	0.000001	T	0.07369	0.0186	M	0.63428	1.95	0.42862	D	0.994118	D	0.89917	1.0	D	0.87578	0.998	T	0.52087	-0.8622	10	0.20519	T	0.43	.	19.2063	0.93732	0.0:0.0:1.0:0.0	.	174	Q3MJ13	WDR72_HUMAN	Y	174	ENSP00000379619:S174Y;ENSP00000353699:S174Y	ENSP00000353699:S174Y	S	-	2	0	WDR72	51793993	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.705000	0.61838	2.785000	0.95823	0.655000	0.94253	TCT		0.383	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		14	119	14	119	---	---	---	---
ISLR2	57611	broad.mit.edu	37	15	74426317	74426317	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr15:74426317G>A	ENST00000361742.3	+	4	1991	c.1222G>A	c.(1222-1224)Gtc>Atc	p.V408I	ISLR2_ENST00000565159.1_Missense_Mutation_p.V408I|ISLR2_ENST00000565540.1_Missense_Mutation_p.V408I|ISLR2_ENST00000419208.1_Missense_Mutation_p.V408I|ISLR2_ENST00000435464.1_Missense_Mutation_p.V408I|ISLR2_ENST00000453268.2_Missense_Mutation_p.V408I|ISLR2_ENST00000445793.1_Missense_Mutation_p.V408I|ISLR2_ENST00000561975.1_Intron	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	408					positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V408I(1)		breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						GGGCAACAGCGTCCTGCCTTC	0.662																																						ENST00000361742.3																			1	Substitution - Missense(1)	p.V408I(1)	prostate(1)	breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						c.(1222-1224)Gtc>Atc		immunoglobulin superfamily containing leucine-rich repeat 2							16.0	17.0	17.0					15																	74426317		2194	4293	6487	SO:0001583	missense	57611				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane		g.chr15:74426317G>A		CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.1222G>A	15.37:g.74426317G>A	ENSP00000355402:p.Val408Ile					ISLR2_ENST00000445793.1_Missense_Mutation_p.V408I|ISLR2_ENST00000435464.1_Missense_Mutation_p.V408I|ISLR2_ENST00000419208.1_Missense_Mutation_p.V408I|ISLR2_ENST00000453268.2_Missense_Mutation_p.V408I|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565540.1_Missense_Mutation_p.V408I|ISLR2_ENST00000565159.1_Missense_Mutation_p.V408I	p.V408I	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN			4	1991	+			408					A8K352|Q9P263	Missense_Mutation	SNP	ENST00000361742.3	37	c.1222G>A	CCDS10259.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.931156	0.52866	.	.	ENSG00000167178	ENST00000445793;ENST00000361742;ENST00000435464;ENST00000453268;ENST00000419208	T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38	4.52	4.52	0.55395	.	0.073296	0.52532	D	0.000066	T	0.43612	0.1255	L	0.27053	0.805	0.46954	D	0.999264	D	0.59767	0.986	B	0.43155	0.41	T	0.49698	-0.8912	10	0.51188	T	0.08	.	16.8231	0.85923	0.0:0.0:1.0:0.0	.	408	Q6UXK2	ISLR2_HUMAN	I	408	ENSP00000403244:V408I;ENSP00000355402:V408I;ENSP00000411443:V408I;ENSP00000411834:V408I;ENSP00000408872:V408I	ENSP00000355402:V408I	V	+	1	0	ISLR2	72213370	1.000000	0.71417	0.820000	0.32676	0.905000	0.53344	4.923000	0.63412	2.077000	0.62373	0.313000	0.20887	GTC		0.662	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269046.1	NM_020851		3	19	3	19	---	---	---	---
DHRS11	79154	broad.mit.edu	37	17	34958384	34958384	+	IGR	SNP	C	C	A			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr17:34958384C>A	ENST00000251312.5	+	0	1598				MRM1_ENST00000585770.1_5'Flank|MRM1_ENST00000250156.7_Missense_Mutation_p.L49M	NM_024308.3	NP_077284.2	Q6UWP2	DHR11_HUMAN	dehydrogenase/reductase (SDR family) member 11							extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			endometrium(1)|lung(4)	5						GACCTCTCGGCTGGAGCTTCT	0.677																																						ENST00000250156.7																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5						c.(145-147)Ctg>Atg		mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae)							77.0	79.0	78.0					17																	34958384		2203	4300	6503	SO:0001628	intergenic_variant	79922				RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity	g.chr17:34958384C>A		CCDS11315.2	17q12	2014-05-06			ENSG00000108272	ENSG00000278535		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	28639	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 24C, member 1"""					12975309, 19027726	Standard	NM_024308		Approved	MGC4172, SDR24C1	uc002hnd.3	Q6UWP2	OTTHUMG00000188442		17.37:g.34958384C>A							p.L49M	NM_024864.3	NP_079140.2	Q6IN84	MRM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)	1	384	+		Breast(25;0.00957)|Ovarian(249;0.17)	49					B2RDZ3|Q9BUC7|Q9H674	Missense_Mutation	SNP	ENST00000251312.5	37	c.145C>A	CCDS11315.2	.	.	.	.	.	.	.	.	.	.	C	9.545	1.114442	0.20795	.	.	ENSG00000129282	ENST00000250156	T	0.44881	0.91	4.79	3.82	0.43975	.	0.801655	0.11286	N	0.579836	T	0.31638	0.0803	L	0.27053	0.805	0.26881	N	0.967546	B	0.19200	0.034	B	0.23150	0.044	T	0.09292	-1.0681	10	0.46703	T	0.11	-2.8542	10.5294	0.44967	0.0:0.9051:0.0:0.0949	.	49	Q6IN84	MRM1_HUMAN	M	49	ENSP00000250156:L49M	ENSP00000250156:L49M	L	+	1	2	MRM1	32032497	0.866000	0.29940	0.041000	0.18516	0.581000	0.36288	1.755000	0.38379	2.654000	0.90174	0.555000	0.69702	CTG		0.677	DHRS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256681.2	NM_024308		4	130	4	130	---	---	---	---
ESCO1	114799	broad.mit.edu	37	18	19154390	19154390	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr18:19154390T>A	ENST00000269214.5	-	4	1352	c.415A>T	c.(415-417)Aga>Tga	p.R139*		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	139					mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)|sister chromatid cohesion (GO:0007062)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|transferase activity, transferring acyl groups (GO:0016746)	p.R139*(1)		breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						TGAATTTCTCTACTGCGTAAC	0.373																																						ENST00000269214.5																			1	Substitution - Nonsense(1)	p.R139*(1)	prostate(1)	breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(415-417)Aga>Tga		establishment of sister chromatid cohesion N-acetyltransferase 1							277.0	273.0	274.0					18																	19154390		2203	4300	6503	SO:0001587	stop_gained	114799				cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	g.chr18:19154390T>A	AL832041	CCDS32800.1	18q11.2	2013-05-02	2013-05-02		ENSG00000141446	ENSG00000141446			24645	protein-coding gene	gene with protein product		609674	"""establishment of cohesion 1 homolog 1 (S. cerevisiae)"""			11572484, 14576321, 15958495	Standard	NM_052911		Approved	ESO1, EFO1, KIAA1911	uc002kth.1	Q5FWF5		ENST00000269214.5:c.415A>T	18.37:g.19154390T>A	ENSP00000269214:p.Arg139*						p.R139*	NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN			4	1352	-			139					B0YJ11|B0YJ12|Q69YG4|Q69YS3|Q6IMD7|Q8N3Z5|Q8NBG2|Q96PX7	Nonsense_Mutation	SNP	ENST00000269214.5	37	c.415A>T	CCDS32800.1	.	.	.	.	.	.	.	.	.	.	T	44	10.897345	0.99485	.	.	ENSG00000141446	ENST00000269214;ENST00000383276	.	.	.	6.17	3.63	0.41609	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.7538	7.4502	0.27234	0.0:0.0708:0.2432:0.686	.	.	.	.	X	139	.	ENSP00000269214:R139X	R	-	1	2	ESCO1	17408388	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.946000	0.40283	2.371000	0.80710	0.533000	0.62120	AGA		0.373	ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443942.1	NM_052911		14	878	14	878	---	---	---	---
FBN3	84467	broad.mit.edu	37	19	8176568	8176568	+	Missense_Mutation	SNP	G	G	A	rs149551378	byFrequency	TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr19:8176568G>A	ENST00000600128.1	-	32	4462	c.4048C>T	c.(4048-4050)Cgc>Tgc	p.R1350C	FBN3_ENST00000601739.1_Missense_Mutation_p.R1350C|FBN3_ENST00000270509.2_Missense_Mutation_p.R1350C			Q75N90	FBN3_HUMAN	fibrillin 3	1350	EGF-like 20; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.R1350C(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AAGCCCTGGCGGCAGGTGCAG	0.632																																						ENST00000600128.1																			1	Substitution - Missense(1)	p.R1350C(1)	prostate(1)	NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(4048-4050)Cgc>Tgc		fibrillin 3		G	CYS/ARG	8,4398	12.9+/-30.5	0,8,2195	31.0	32.0	32.0		4048	3.8	0.3	19	dbSNP_134	32	1,8599	1.2+/-3.3	0,1,4299	yes	missense	FBN3	NM_032447.3	180	0,9,6494	AA,AG,GG		0.0116,0.1816,0.0692	probably-damaging	1350/2810	8176568	9,12997	2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8176568G>A		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.4048C>T	19.37:g.8176568G>A	ENSP00000470498:p.Arg1350Cys					FBN3_ENST00000270509.2_Missense_Mutation_p.R1350C|FBN3_ENST00000601739.1_Missense_Mutation_p.R1350C	p.R1350C			Q75N90	FBN3_HUMAN			32	4462	-			1350			EGF-like 20; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.4048C>T	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.437926	0.43326	0.001816	1.16E-4	ENSG00000142449	ENST00000270509	D	0.92495	-3.05	3.84	3.84	0.44239	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.248924	0.34200	U	0.004164	D	0.94424	0.8206	M	0.85462	2.755	0.45108	D	0.998123	D	0.69078	0.997	P	0.54965	0.765	D	0.94456	0.7672	10	0.59425	D	0.04	.	11.0595	0.47940	0.0:0.0:0.8141:0.1859	.	1350	Q75N90	FBN3_HUMAN	C	1350	ENSP00000270509:R1350C	ENSP00000270509:R1350C	R	-	1	0	FBN3	8082568	0.996000	0.38824	0.253000	0.24343	0.039000	0.13416	2.392000	0.44433	1.682000	0.51000	0.313000	0.20887	CGC		0.632	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		12	43	12	43	---	---	---	---
DNM2	1785	broad.mit.edu	37	19	10904491	10904491	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr19:10904491A>G	ENST00000355667.6	+	8	1168	c.1088A>G	c.(1087-1089)aAt>aGt	p.N363S	DNM2_ENST00000359692.6_Missense_Mutation_p.N363S|DNM2_ENST00000314646.5_Missense_Mutation_p.N363S|DNM2_ENST00000389253.4_Missense_Mutation_p.N363S|DNM2_ENST00000408974.4_Missense_Mutation_p.N363S|DNM2_ENST00000585892.1_Missense_Mutation_p.N363S	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	363					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			GCCCGAATCAATCGCATCTTC	0.617			"""F, N, Splice, Mis, O"""		ETP ALL																																	ENST00000314646.5				Rec	yes		19	19p13.2	1785	"""F, N, Splice, Mis, O"""	dynamin 2			L			ETP ALL		0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42						c.(1087-1089)aAt>aGt		dynamin 2							94.0	101.0	99.0					19																	10904491		2203	4300	6503	SO:0001583	missense	1785				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding	g.chr19:10904491A>G		CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"""Pleckstrin homology (PH) domain containing"""	2974	protein-coding gene	gene with protein product	"""dynamin II"", ""cytoskeletal protein"""	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.1088A>G	19.37:g.10904491A>G	ENSP00000347890:p.Asn363Ser					DNM2_ENST00000359692.6_Missense_Mutation_p.N363S|DNM2_ENST00000389253.4_Missense_Mutation_p.N363S|DNM2_ENST00000585892.1_Missense_Mutation_p.N363S|DNM2_ENST00000355667.6_Missense_Mutation_p.N363S|DNM2_ENST00000408974.4_Missense_Mutation_p.N363S	p.N363S			P50570	DYN2_HUMAN	Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)		8	1252	+			363					A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Missense_Mutation	SNP	ENST00000355667.6	37	c.1088A>G	CCDS45968.1	.	.	.	.	.	.	.	.	.	.	A	17.87	3.495180	0.64186	.	.	ENSG00000079805	ENST00000389252;ENST00000408974;ENST00000355667;ENST00000359692;ENST00000389253;ENST00000314646	T;T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67;-0.67	4.93	4.93	0.64822	Dynamin central domain (1);	0.092490	0.64402	D	0.000001	T	0.69459	0.3113	L	0.41824	1.3	0.80722	D	1	D;B;B;B;B	0.52996	0.957;0.164;0.081;0.095;0.207	P;B;B;B;B	0.50754	0.649;0.168;0.084;0.12;0.092	T	0.69277	-0.5187	10	0.37606	T	0.19	-6.145	13.5959	0.61988	1.0:0.0:0.0:0.0	.	96;363;363;363;363	B4DJ53;A8K1B6;P50570-2;P50570;E9PEQ4	.;.;.;DYN2_HUMAN;.	S	352;363;363;363;363;363	ENSP00000386192:N363S;ENSP00000347890:N363S;ENSP00000352721:N363S;ENSP00000373905:N363S;ENSP00000313164:N363S	ENSP00000313164:N363S	N	+	2	0	DNM2	10765491	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	9.339000	0.96797	1.846000	0.53633	0.533000	0.62120	AAT		0.617	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	NM_004945		5	208	5	208	---	---	---	---
LILRB5	10990	broad.mit.edu	37	19	54754760	54754760	+	Missense_Mutation	SNP	C	C	T	rs112549096	byFrequency	TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr19:54754760C>T	ENST00000316219.5	-	13	1770	c.1663G>A	c.(1663-1665)Gcc>Acc	p.A555T	LILRB5_ENST00000449561.2_Missense_Mutation_p.A556T|LILRB5_ENST00000450632.1_3'UTR|LILRB5_ENST00000345866.6_Missense_Mutation_p.A456T|CTD-2337J16.1_ENST00000595133.1_lincRNA	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	555					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)	p.A555T(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGTAGCTGGGCGTAGGTCACA	0.652																																						ENST00000316219.5																			1	Substitution - Missense(1)	p.A555T(1)	prostate(1)	NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1663-1665)Gcc>Acc		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5		C	THR/ALA,THR/ALA,THR/ALA	1,4403	2.1+/-5.4	0,1,2201	51.0	54.0	53.0		1666,1366,1663	-0.7	0.0	19	dbSNP_132	53	3,8581	3.0+/-9.4	0,3,4289	no	missense,missense,missense	LILRB5	NM_001081442.1,NM_001081443.1,NM_006840.3	58,58,58	0,4,6490	TT,TC,CC		0.0349,0.0227,0.0308	probably-damaging,probably-damaging,probably-damaging	556/592,456/492,555/591	54754760	4,12984	2202	4292	6494	SO:0001583	missense	10990				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54754760C>T	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1663G>A	19.37:g.54754760C>T	ENSP00000320390:p.Ala555Thr					LILRB5_ENST00000450632.1_3'UTR|LILRB5_ENST00000345866.6_Missense_Mutation_p.A456T|LILRB5_ENST00000449561.2_Missense_Mutation_p.A556T	p.A555T	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	13	1770	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		555					Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	c.1663G>A	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.741144	0.49151	2.27E-4	3.49E-4	ENSG00000105609	ENST00000316219;ENST00000449561;ENST00000345866	T;T;T	0.00705	6.34;6.36;5.81	2.75	-0.704	0.11256	.	.	.	.	.	T	0.02688	0.0081	M	0.72894	2.215	0.09310	N	1	D;P;D	0.89917	1.0;0.938;0.998	D;B;P	0.77004	0.989;0.248;0.68	T	0.41161	-0.9524	9	0.87932	D	0	.	4.9814	0.14166	0.0:0.5222:0.0:0.4778	.	456;556;555	O75023-2;O75023-3;O75023	.;.;LIRB5_HUMAN	T	555;556;456	ENSP00000320390:A555T;ENSP00000406478:A556T;ENSP00000263430:A456T	ENSP00000320390:A555T	A	-	1	0	LILRB5	59446572	0.067000	0.21026	0.003000	0.11579	0.380000	0.30137	0.176000	0.16782	0.072000	0.16694	-0.225000	0.12378	GCC		0.652	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			8	73	8	73	---	---	---	---
LILRB1	10859	broad.mit.edu	37	19	55148219	55148219	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr19:55148219G>A	ENST00000396331.1	+	16	2200	c.1843G>A	c.(1843-1845)Gcc>Acc	p.A615T	LILRB1_ENST00000396321.2_Missense_Mutation_p.A615T|LILRB1_ENST00000418536.2_Missense_Mutation_p.A599T|AC009892.10_ENST00000456337.1_Intron|LILRB1_ENST00000396315.1_Missense_Mutation_p.A617T|LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000396332.4_Missense_Mutation_p.A616T|LILRB1_ENST00000324602.7_Missense_Mutation_p.A617T|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000427581.2_Missense_Mutation_p.A666T|LILRB1_ENST00000396317.1_Missense_Mutation_p.A599T|LILRB1_ENST00000434867.2_Missense_Mutation_p.A615T|LILRB1_ENST00000396327.3_Missense_Mutation_p.A616T	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	615					cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		TGTGACCTACGCCCAGCTGCA	0.667										HNSCC(37;0.09)																												ENST00000396331.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74						c.(1843-1845)Gcc>Acc		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1							81.0	72.0	75.0					19																	55148219		2203	4300	6503	SO:0001583	missense	10859				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55148219G>A	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1843G>A	19.37:g.55148219G>A	ENSP00000379622:p.Ala615Thr	HNSCC(37;0.09)				LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000427581.2_Missense_Mutation_p.A666T|LILRB1_ENST00000396321.2_Missense_Mutation_p.A615T|LILRB1_ENST00000396317.1_Missense_Mutation_p.A599T|LILRB1_ENST00000396315.1_Missense_Mutation_p.A617T|LILRB1_ENST00000396327.3_Missense_Mutation_p.A616T|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000324602.7_Missense_Mutation_p.A617T|LILRB1_ENST00000434867.2_Missense_Mutation_p.A615T|AC009892.10_ENST00000456337.1_Intron|LILRB1_ENST00000418536.2_Missense_Mutation_p.A599T|LILRB1_ENST00000396332.4_Missense_Mutation_p.A616T	p.A615T	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	16	2200	+			615					A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	c.1843G>A	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.412833	0.42817	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T	0.00597	6.54;6.45;6.54;6.46;6.45;6.54;6.54;6.31;6.45;6.45	1.77	1.77	0.24775	.	.	.	.	.	T	0.02193	0.0068	M	0.77103	2.36	0.09310	N	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.972;0.999;0.989;0.999;0.946	T	0.40683	-0.9550	9	0.87932	D	0	.	7.0775	0.25213	0.0:0.0:1.0:0.0	.	599;617;616;616;615	A8MVE2;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;LIRB1_HUMAN	T	615;599;615;616;617;615;616;666;599;617	ENSP00000379614:A615T;ENSP00000391514:A599T;ENSP00000379622:A615T;ENSP00000379618:A616T;ENSP00000315997:A617T;ENSP00000405243:A615T;ENSP00000379623:A616T;ENSP00000395004:A666T;ENSP00000379610:A599T;ENSP00000379608:A617T	ENSP00000315997:A617T	A	+	1	0	LILRB1	59840031	0.833000	0.29383	0.131000	0.22000	0.010000	0.07245	0.359000	0.20233	1.330000	0.45394	0.194000	0.17425	GCC		0.667	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			4	138	4	138	---	---	---	---
N6AMT1	29104	broad.mit.edu	37	21	30255333	30255333	+	Silent	SNP	A	A	G			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr21:30255333A>G	ENST00000303775.5	-	2	220	c.195T>C	c.(193-195)tcT>tcC	p.S65S	N6AMT1_ENST00000351429.3_Silent_p.S65S	NM_013240.4	NP_037372	Q9Y5N5	HEMK2_HUMAN	N-6 adenine-specific DNA methyltransferase 1 (putative)	65					positive regulation of cell growth (GO:0030307)|protein methylation (GO:0006479)	protein complex (GO:0043234)	nucleic acid binding (GO:0003676)|protein methyltransferase activity (GO:0008276)	p.S65S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						GGCCTATCATAGAGGCTAGGA	0.333																																						ENST00000303775.5																			1	Substitution - coding silent(1)	p.S65S(1)	prostate(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						c.(193-195)tcT>tcC		N-6 adenine-specific DNA methyltransferase 1 (putative)							95.0	87.0	90.0					21																	30255333		2203	4300	6503	SO:0001819	synonymous_variant	29104				positive regulation of cell growth	protein complex	nucleic acid binding|protein binding|protein methyltransferase activity	g.chr21:30255333A>G	AF139682	CCDS33525.1, CCDS33526.1	21q21.3	2006-12-14	2006-12-14	2006-12-14	ENSG00000156239	ENSG00000156239	2.1.1.72		16021	protein-coding gene	gene with protein product		614553	"""chromosome 21 open reading frame 127"", ""HemK methyltransferase family member 2"""	C21orf127, HEMK2			Standard	NM_013240		Approved	PRED28, N6AMT, MTQ2	uc002ymo.2	Q9Y5N5	OTTHUMG00000078750	ENST00000303775.5:c.195T>C	21.37:g.30255333A>G						N6AMT1_ENST00000351429.3_Silent_p.S65S	p.S65S	NM_013240.4	NP_037372	Q9Y5N5	HEMK2_HUMAN			2	220	-			65					Q96F73	Silent	SNP	ENST00000303775.5	37	c.195T>C	CCDS33526.1																																																																																				0.333	N6AMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171738.1	NM_013240		24	125	24	125	---	---	---	---
PFKL	5211	broad.mit.edu	37	21	45742931	45742931	+	Splice_Site	SNP	A	A	G			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr21:45742931A>G	ENST00000349048.4	+	15	1551	c.1496A>G	c.(1495-1497)gAg>gGg	p.E499G	PFKL_ENST00000403390.1_Splice_Site_p.E546G	NM_002626.4	NP_002617.3	P17858	PFKAL_HUMAN	phosphofructokinase, liver	499	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of insulin secretion (GO:0046676)|protein homotetramerization (GO:0051289)|protein oligomerization (GO:0051259)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|fructose-6-phosphate binding (GO:0070095)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		GGTGGGTTTGAGGTGAGAGCT	0.622																																						ENST00000403390.1																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(1636-1638)gAg>gGg		phosphofructokinase, liver							132.0	101.0	112.0					21																	45742931		2203	4299	6502	SO:0001630	splice_region_variant	5211				fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding	g.chr21:45742931A>G		CCDS33582.1	21q22.3	1992-12-17			ENSG00000141959	ENSG00000141959	2.7.1.11		8876	protein-coding gene	gene with protein product		171860					Standard	NR_024108		Approved		uc002zel.3	P17858	OTTHUMG00000086910	ENST00000349048.4:c.1497+1A>G	21.37:g.45742931A>G						PFKL_ENST00000349048.4_Splice_Site_p.E499G	p.E546G			P17858	K6PL_HUMAN		Colorectal(79;0.0811)	16	1637	+			499					Q96A64|Q96IH4|Q9BR91	Splice_Site	SNP	ENST00000349048.4	37	c.1637A>G	CCDS33582.1	.	.	.	.	.	.	.	.	.	.	A	16.40	3.113423	0.56398	.	.	ENSG00000141959	ENST00000349048;ENST00000534847;ENST00000403390	T;T	0.57595	0.39;0.39	3.54	3.54	0.40534	Phosphofructokinase domain (2);	0.000000	0.85682	U	0.000000	T	0.55194	0.1905	N	0.20357	0.565	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.988	T	0.59584	-0.7427	10	0.87932	D	0	-31.0891	10.341	0.43877	1.0:0.0:0.0:0.0	.	499;546	P17858;P17858-2	K6PL_HUMAN;.	G	499;292;546	ENSP00000269848:E499G;ENSP00000384038:E546G	ENSP00000269848:E499G	E	+	2	0	PFKL	44567359	1.000000	0.71417	0.960000	0.40013	0.122000	0.20287	4.770000	0.62309	1.384000	0.46424	0.402000	0.26972	GAG		0.622	PFKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195805.1		Missense_Mutation	3	106	3	106	---	---	---	---
PIGA	5277	broad.mit.edu	37	X	15342939	15342939	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chrX:15342939T>C	ENST00000333590.4	-	5	1120	c.1036A>G	c.(1036-1038)Att>Gtt	p.I346V	PIGA_ENST00000482148.1_5'UTR|PIGA_ENST00000428964.1_Missense_Mutation_p.I31V|PIGA_ENST00000542278.1_Missense_Mutation_p.I112V	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class A	346					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|positive regulation of metabolic process (GO:0009893)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)|UDP-glycosyltransferase activity (GO:0008194)	p.I346V(1)		endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					TCACATAAAATAATAAGGTTT	0.383																																						ENST00000333590.4																			1	Substitution - Missense(1)	p.I346V(1)	prostate(1)	endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10						c.(1036-1038)Att>Gtt		phosphatidylinositol glycan anchor biosynthesis, class A							65.0	63.0	64.0					X																	15342939		2202	4298	6500	SO:0001583	missense	5277				C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding	g.chrX:15342939T>C	BC038236	CCDS14165.1, CCDS48086.1, CCDS48086.2	Xp22.1	2014-09-17	2008-07-31		ENSG00000165195	ENSG00000165195	2.4.1.198	"""Glycosyltransferase group 1 domain containing"", ""Phosphatidylinositol glycan anchor biosynthesis"""	8957	protein-coding gene	gene with protein product	"""paroxysmal nocturnal hemoglobinuria"", ""phosphatidylinositol N-acetylglucosaminyltransferase"""	311770	"""phosphatidylinositol glycan, class A (paroxysmal nocturnal hemoglobinuria)"""			8500164	Standard	NM_002641		Approved	GPI3	uc004cwr.3	P37287	OTTHUMG00000021174	ENST00000333590.4:c.1036A>G	X.37:g.15342939T>C	ENSP00000369820:p.Ile346Val					PIGA_ENST00000482148.1_5'UTR|PIGA_ENST00000428964.1_Missense_Mutation_p.I31V|PIGA_ENST00000542278.1_Missense_Mutation_p.I112V	p.I346V	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN			5	1120	-	Hepatocellular(33;0.183)		346					B4E0V2|Q16025|Q16250	Missense_Mutation	SNP	ENST00000333590.4	37	c.1036A>G	CCDS14165.1	.	.	.	.	.	.	.	.	.	.	T	8.800	0.932615	0.18131	.	.	ENSG00000165195	ENST00000542278;ENST00000333590;ENST00000428964	T;T;T	0.79554	-1.28;-0.93;-1.28	5.99	4.83	0.62350	Glycosyl transferase, family 1 (1);	0.046640	0.85682	D	0.000000	T	0.71005	0.3289	L	0.38175	1.15	0.40687	D	0.982369	B;B;B	0.17667	0.001;0.023;0.001	B;B;B	0.26517	0.004;0.07;0.002	T	0.61811	-0.6986	10	0.16896	T	0.51	-13.532	10.2438	0.43328	0.0:0.0772:0.0:0.9228	.	112;177;346	B4E0V2;P37287-2;P37287	.;.;PIGA_HUMAN	V	112;346;31	ENSP00000442653:I112V;ENSP00000369820:I346V;ENSP00000416102:I31V	ENSP00000369820:I346V	I	-	1	0	PIGA	15252860	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.627000	0.61276	0.884000	0.36064	0.486000	0.48141	ATT		0.383	PIGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055854.1	NM_002641		5	118	5	118	---	---	---	---
HUWE1	10075	broad.mit.edu	37	X	53657925	53657925	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chrX:53657925T>C	ENST00000342160.3	-	11	1281	c.824A>G	c.(823-825)cAg>cGg	p.Q275R	HUWE1_ENST00000218328.8_Missense_Mutation_p.Q275R|HUWE1_ENST00000262854.6_Missense_Mutation_p.Q275R			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	275					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						CTGAACTGCCTGCAATCGCTT	0.393																																						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.(823-825)cAg>cGg		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							81.0	74.0	76.0					X																	53657925		2203	4299	6502	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:53657925T>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.824A>G	X.37:g.53657925T>C	ENSP00000340648:p.Gln275Arg					HUWE1_ENST00000218328.8_Missense_Mutation_p.Q275R|HUWE1_ENST00000262854.6_Missense_Mutation_p.Q275R	p.Q275R			Q7Z6Z7	HUWE1_HUMAN			11	1281	-			275					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.824A>G	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	T	15.72	2.917423	0.52546	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328	T;T;T	0.64991	-0.13;-0.13;0.88	4.81	4.81	0.61882	E3 ubiquitin ligase, domain of unknown function DUF908 (1);Armadillo-type fold (1);	0.237456	0.34725	N	0.003725	T	0.48352	0.1495	N	0.20574	0.59	0.53005	D	0.99996	P	0.37573	0.6	B	0.39299	0.296	T	0.48514	-0.9029	10	0.33940	T	0.23	.	12.4765	0.55817	0.0:0.0:0.0:1.0	.	275	Q7Z6Z7	HUWE1_HUMAN	R	275	ENSP00000340648:Q275R;ENSP00000262854:Q275R;ENSP00000218328:Q275R	ENSP00000218328:Q275R	Q	-	2	0	HUWE1	53674650	1.000000	0.71417	0.992000	0.48379	0.948000	0.59901	7.313000	0.78978	1.788000	0.52465	0.486000	0.48141	CAG		0.393	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		3	112	3	112	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76940433	76940433	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chrX:76940433A>C	ENST00000373344.5	-	8	874	c.660T>G	c.(658-660)tgT>tgG	p.C220W	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.C182W	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	220	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.		C -> R (in ATRX).|C -> Y (in MRXSHF1). {ECO:0000269|PubMed:11050622}.		ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.C220W(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTACCTACCTACATTGTTCAT	0.328			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		3	Substitution - Missense(2)|Unknown(1)	p.C220W(2)|p.?(1)	prostate(2)|bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(658-660)tgT>tgG		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						153.0	129.0	137.0					X																	76940433		2203	4292	6495	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76940433A>C	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.660T>G	X.37:g.76940433A>C	ENSP00000362441:p.Cys220Trp					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.C182W	p.C220W	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN			8	874	-			220		C -> R (in ATRX).|C -> Y (in MRXSHF1).	ADD.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.660T>G	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	A	13.93	2.383536	0.42207	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.99399	-5.83;-5.83	5.54	4.36	0.52297	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, FYVE/PHD-type (1);	0.119578	0.64402	D	0.000020	D	0.99402	0.9789	M	0.85945	2.785	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;1.0;0.999;0.998	D	0.99395	1.0926	10	0.87932	D	0	-15.232	8.3363	0.32217	0.8435:0.0:0.1565:0.0	.	220;181;182;220	A4LAA3;P46100-6;P46100-4;P46100	.;.;.;ATRX_HUMAN	W	220;182;176	ENSP00000362441:C220W;ENSP00000378967:C182W	ENSP00000362441:C220W	C	-	3	2	ATRX	76827089	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	3.004000	0.49513	1.844000	0.53588	0.345000	0.21793	TGT		0.328	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		4	134	4	134	---	---	---	---
HTATSF1	27336	broad.mit.edu	37	X	135593930	135593930	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chrX:135593930T>G	ENST00000218364.4	+	9	2200	c.2026T>G	c.(2026-2028)Tca>Gca	p.S676A	HTATSF1_ENST00000535601.1_Missense_Mutation_p.S676A	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	676	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S676A(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					GTTTGAAGAGTCAGATGACAA	0.403																																						ENST00000535601.1																			1	Substitution - Missense(1)	p.S676A(1)	prostate(1)	NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30						c.(2026-2028)Tca>Gca		HIV-1 Tat specific factor 1							205.0	177.0	187.0					X																	135593930		2203	4300	6503	SO:0001583	missense	27336				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding	g.chrX:135593930T>G	U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"""RNA binding motif (RRM) containing"""	5276	protein-coding gene	gene with protein product		300346	"""HIV TAT specific factor 1"""			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.2026T>G	X.37:g.135593930T>G	ENSP00000218364:p.Ser676Ala					HTATSF1_ENST00000218364.4_Missense_Mutation_p.S676A	p.S676A	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN			10	2448	+	Acute lymphoblastic leukemia(192;0.000127)		676			Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.		D3DWG9|Q59G06|Q99730	Missense_Mutation	SNP	ENST00000218364.4	37	c.2026T>G	CCDS14657.1	.	.	.	.	.	.	.	.	.	.	T	8.533	0.871429	0.17322	.	.	ENSG00000102241	ENST00000535601;ENST00000218364	T;T	0.05447	3.44;3.44	3.85	3.85	0.44370	.	0.184974	0.26594	N	0.023505	T	0.05914	0.0154	N	0.19112	0.55	0.24165	N	0.995648	P	0.49961	0.93	P	0.48627	0.584	T	0.23797	-1.0178	10	0.66056	D	0.02	-2.1924	5.1082	0.14794	0.0:0.1305:0.0:0.8695	.	676	O43719	HTSF1_HUMAN	A	676	ENSP00000442699:S676A;ENSP00000218364:S676A	ENSP00000218364:S676A	S	+	1	0	HTATSF1	135421596	0.001000	0.12720	0.444000	0.26895	0.289000	0.27227	0.575000	0.23729	1.745000	0.51790	0.425000	0.28330	TCA		0.403	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058497.1	NM_014500		6	66	6	66	---	---	---	---
DISP1	84976	broad.mit.edu	37	1	223178140	223178162	+	Frame_Shift_Del	DEL	TTGGACCACAGGGTACCTGTGGT	TTGGACCACAGGGTACCTGTGGT	-	rs199856419		TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr1:223178140_223178162delTTGGACCACAGGGTACCTGTGGT	ENST00000284476.6	+	8	3565_3587	c.3401_3423delTTGGACCACAGGGTACCTGTGGT	c.(3400-3423)cttggaccacagggtacctgtggtfs	p.LGPQGTCG1134fs		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1134					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TGCCGGTGCCTTGGACCACAGGGTACCTGTGGTCAGATTCCTT	0.48																																						ENST00000284476.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69						c.(3400-3423)cttggaccacagggtacctgtggtfs		dispatched homolog 1 (Drosophila)																																				SO:0001589	frameshift_variant	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223178140_223178162delTTGGACCACAGGGTACCTGTGGT	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.3401_3423delTTGGACCACAGGGTACCTGTGGT	1.37:g.223178140_223178162delTTGGACCACAGGGTACCTGTGGT	ENSP00000284476:p.Leu1134fs						p.LGPQGTCG1134fs	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	8	3565_3587	+			1134					Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Frame_Shift_Del	DEL	ENST00000284476.6	37	c.3401_3423delTTGGACCACAGGGTACCTGTGGT	CCDS1536.1																																																																																				0.480	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		8	186	8	186	---	---	---	---
MSTN	2660	broad.mit.edu	37	2	190925125	190925125	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr2:190925125delC	ENST00000260950.4	-	2	542	c.410delG	c.(409-411)tgtfs	p.C138fs	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	138					cellular response to dexamethasone stimulus (GO:0071549)|muscle organ development (GO:0007517)|negative regulation of muscle hypertrophy (GO:0014741)|negative regulation of skeletal muscle tissue growth (GO:0048632)|ovulation cycle process (GO:0022602)|positive regulation of transcription, DNA-templated (GO:0045893)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gravity (GO:0009629)|response to heat (GO:0009408)|response to muscle activity (GO:0014850)|response to testosterone (GO:0033574)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue regeneration (GO:0043403)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			AAAGAAGCAACATTTGGGTTT	0.328																																						ENST00000260950.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12						c.(409-411)tgtfs		myostatin							45.0	46.0	46.0					2																	190925125		2203	4299	6502	SO:0001589	frameshift_variant	2660				muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr2:190925125delC	AF019627	CCDS2303.1	2q32.1	2014-09-17	2007-06-21	2007-06-21	ENSG00000138379	ENSG00000138379			4223	protein-coding gene	gene with protein product		601788	"""growth differentiation factor 8"""	GDF8		9288100, 10610713, 17003236	Standard	NM_005259		Approved		uc002urp.3	O14793	OTTHUMG00000132663	ENST00000260950.4:c.410delG	2.37:g.190925125delC	ENSP00000260950:p.Cys138fs					C2orf88_ENST00000478197.1_Intron	p.C138fs	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)		2	542	-			138					A1C2J7|A1C2K0|Q6B0H2	Frame_Shift_Del	DEL	ENST00000260950.4	37	c.410delG	CCDS2303.1																																																																																				0.328	MSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255917.2	NM_005259		10	160	10	160	---	---	---	---
ZDHHC20	253832	broad.mit.edu	37	13	21987884	21987895	+	In_Frame_Del	DEL	GTTCCTTTTCAG	GTTCCTTTTCAG	-			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr13:21987884_21987895delGTTCCTTTTCAG	ENST00000400590.3	-	4	464_475	c.266_277delCTGAAAAGGAAC	c.(265-279)tctgaaaaggaacgt>tgt	p.89_93SEKER>C	ZDHHC20_ENST00000382466.3_In_Frame_Del_p.89_93SEKER>C|ZDHHC20_ENST00000542645.1_In_Frame_Del_p.26_30SEKER>C|ZDHHC20_ENST00000415724.1_In_Frame_Del_p.89_93SEKER>C|ZDHHC20_ENST00000422251.1_In_Frame_Del_p.89_93SEKER>C|ZDHHC20_ENST00000320220.9_In_Frame_Del_p.89_93SEKER>C|ZDHHC20_ENST00000494731.1_5'UTR			Q5W0Z9	ZDH20_HUMAN	zinc finger, DHHC-type containing 20	89					protein palmitoylation (GO:0018345)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.K91N(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9		all_cancers(29;8.1e-16)|all_epithelial(30;3.63e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)		all cancers(112;0.000268)|Epithelial(112;0.000735)|OV - Ovarian serous cystadenocarcinoma(117;0.00517)|Lung(94;0.171)		TTTTCATAACGTTCCTTTTCAGAATTGGACAA	0.302																																						ENST00000400590.3																			1	Substitution - Missense(1)	p.K91N(1)	large_intestine(1)	central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9						c.(265-279)tctgaaaaggaacgt>tgt		zinc finger, DHHC-type containing 20																																				SO:0001651	inframe_deletion	253832					integral to membrane	acyltransferase activity|zinc ion binding	g.chr13:21987884_21987895delGTTCCTTTTCAG	AK090979	CCDS45017.1, CCDS73551.1	13q12.11	2008-10-21			ENSG00000180776	ENSG00000180776		"""Zinc fingers, DHHC-type"""	20749	protein-coding gene	gene with protein product							Standard	NM_153251		Approved	FLJ25952	uc001uoa.2	Q5W0Z9	OTTHUMG00000017410	ENST00000400590.3:c.266_277delCTGAAAAGGAAC	13.37:g.21987884_21987895delGTTCCTTTTCAG	ENSP00000383433:p.Ser89_Arg93delinsCys					ZDHHC20_ENST00000494731.1_5'UTR|ZDHHC20_ENST00000320220.9_In_Frame_Del_p.89_93SEKER>C|ZDHHC20_ENST00000415724.1_In_Frame_Del_p.89_93SEKER>C|ZDHHC20_ENST00000542645.1_In_Frame_Del_p.26_30SEKER>C|ZDHHC20_ENST00000382466.3_In_Frame_Del_p.89_93SEKER>C|ZDHHC20_ENST00000422251.1_In_Frame_Del_p.89_93SEKER>C	p.89_93SEKER>C			Q5W0Z9	ZDH20_HUMAN		all cancers(112;0.000268)|Epithelial(112;0.000735)|OV - Ovarian serous cystadenocarcinoma(117;0.00517)|Lung(94;0.171)	4	464_475	-		all_cancers(29;8.1e-16)|all_epithelial(30;3.63e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)	89					A8MTV9|C9JG20|I6L9D4|Q2TB82|Q6NVU8	In_Frame_Del	DEL	ENST00000400590.3	37	c.266_277delCTGAAAAGGAAC																																																																																					0.302	ZDHHC20-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000045994.1	NM_153251		8	83	8	83	---	---	---	---
