#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
HECTD4	283450	broad.mit.edu	37	12	112708084	112708084	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr12:112708084C>T	ENST00000430131.2	-	11	1971	c.826G>A	c.(826-828)Gcc>Acc	p.A276T	HECTD4_ENST00000377560.5_Missense_Mutation_p.A526T|HECTD4_ENST00000550722.1_Missense_Mutation_p.A564T|RN7SKP71_ENST00000364558.1_RNA			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	276					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										TTAACCATGGCCTTCTCCATA	0.393																																						ENST00000550722.1																			0											c.(1690-1692)Gcc>Acc		HECT domain containing E3 ubiquitin protein ligase 4							252.0	227.0	236.0					12																	112708084		2203	4300	6503	SO:0001583	missense	283450							g.chr12:112708084C>T	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.826G>A	12.37:g.112708084C>T	ENSP00000404379:p.Ala276Thr					HECTD4_ENST00000430131.2_Missense_Mutation_p.A276T|HECTD4_ENST00000377560.5_Missense_Mutation_p.A526T	p.A564T	NM_001109662.3	NP_001103132.3					12	2085	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.1690G>A		.	.	.	.	.	.	.	.	.	.	C	27.3	4.819558	0.90873	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.61274	0.13;0.14;0.12	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.65407	0.2688	N	0.19112	0.55	0.53005	D	0.999966	D;D;D	0.67145	0.996;0.993;0.996	D;D;D	0.73708	0.981;0.971;0.981	T	0.70403	-0.4881	10	0.87932	D	0	.	19.4231	0.94729	0.0:1.0:0.0:0.0	.	276;276;276	Q9Y4D8-2;Q9Y4D8;Q9Y4D8-3	.;K0614_HUMAN;.	T	526;276;564	ENSP00000366783:A526T;ENSP00000404379:A276T;ENSP00000449784:A564T	ENSP00000366783:A526T	A	-	1	0	C12orf51	111192467	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.664000	0.68045	2.584000	0.87258	0.462000	0.41574	GCC		0.393	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		5	248	0	0	0	1	0	5	248				
SERPINA3	12	broad.mit.edu	37	14	95085747	95085747	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr14:95085747G>A	ENST00000467132.1	+	3	2007	c.859G>A	c.(859-861)Gtg>Atg	p.V287M	SERPINA3_ENST00000393080.4_Missense_Mutation_p.V287M|RP11-986E7.7_ENST00000553947.1_3'UTR|SERPINA3_ENST00000393078.3_Missense_Mutation_p.V287M|SERPINA3_ENST00000482740.1_Missense_Mutation_p.V69M			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	287					acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of endopeptidase activity (GO:0010951)|regulation of lipid metabolic process (GO:0019216)|regulation of proteolysis (GO:0030162)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	DNA binding (GO:0003677)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		GATGGAGGAAGTGGAAGCCAT	0.577																																						ENST00000553947.1																			0				NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40						c.(934-936)Gtg>Atg		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3							76.0	64.0	68.0					14																	95085747		2203	4300	6503	SO:0001583	missense	12				acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity	g.chr14:95085747G>A	K01500	CCDS32150.1	14q32.1	2014-06-03	2005-08-18		ENSG00000196136	ENSG00000196136		"""Serine (or cysteine) peptidase inhibitors"""	16	protein-coding gene	gene with protein product		107280	"""alpha-1-antichymotrypsin"", ""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3"""	AACT		3260956, 24172014	Standard	NM_001085		Approved	ACT, alpha-1-antichymotrypsin	uc001ydp.3	P01011	OTTHUMG00000029851	ENST00000467132.1:c.859G>A	14.37:g.95085747G>A	ENSP00000450540:p.Val287Met					SERPINA3_ENST00000393080.4_Missense_Mutation_p.V287M|SERPINA3_ENST00000482740.1_Missense_Mutation_p.V69M|SERPINA3_ENST00000393078.3_Missense_Mutation_p.V287M|SERPINA3_ENST00000467132.1_Missense_Mutation_p.V287M|SERPINA3_ENST00000556388.1_Intron	p.V312M			P01011	AACT_HUMAN		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)	6	1822	+		all_cancers(154;0.0525)|all_epithelial(191;0.179)	287					B3KVQ7|Q13703|Q2TU87|Q2TU88|Q59GP9|Q6LBY8|Q6LDT7|Q6NSC9|Q8N177|Q96DW8|Q9UC47|Q9UNU9	Missense_Mutation	SNP	ENST00000467132.1	37	c.934G>A	CCDS32150.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.470358	0.43942	.	.	ENSG00000196136	ENST00000553947;ENST00000393078;ENST00000393080;ENST00000555820;ENST00000467132;ENST00000482740	D;D;D;D;D	0.84944	-1.92;-1.92;-1.92;-1.92;-1.92	4.79	1.96	0.26148	Serpin domain (3);	0.375091	0.21797	N	0.068972	D	0.88451	0.6440	M	0.69823	2.125	0.27445	N	0.953615	D;D	0.89917	1.0;0.999	D;P	0.72625	0.978;0.884	T	0.79322	-0.1851	10	0.87932	D	0	.	3.0079	0.06034	0.1641:0.1396:0.55:0.1463	.	287;312	P01011;G3V5I3	AACT_HUMAN;.	M	312;287;287;287;287;69	ENSP00000452367:V312M;ENSP00000376793:V287M;ENSP00000376795:V287M;ENSP00000450540:V287M;ENSP00000451119:V69M	ENSP00000376793:V287M	V	+	1	0	SERPINA3	94155500	0.000000	0.05858	0.210000	0.23637	0.015000	0.08874	-0.473000	0.06615	0.221000	0.20879	-0.258000	0.10820	GTG		0.577	SERPINA3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268080.3	NM_001085		14	66	0	0	0	1	0	14	66				
CLCA4	22802	broad.mit.edu	37	1	87043729	87043729	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr1:87043729C>T	ENST00000370563.3	+	12	2138	c.2096C>T	c.(2095-2097)gCg>gTg	p.A699V	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	699					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		AATAGAGCCGCGTACATACCA	0.403																																						ENST00000370563.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						c.(2095-2097)gCg>gTg		chloride channel accessory 4							42.0	42.0	42.0					1																	87043729		1870	4109	5979	SO:0001583	missense	22802					apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:87043729C>T	AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"""chloride channel, calcium activated, family member 4"", ""chloride channel regulator 4"""			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.2096C>T	1.37:g.87043729C>T	ENSP00000359594:p.Ala699Val					RP4-651E10.4_ENST00000456587.1_RNA	p.A699V	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN		all cancers(265;0.0202)|Epithelial(280;0.0404)	12	2138	+		Lung NSC(277;0.238)	699					A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Missense_Mutation	SNP	ENST00000370563.3	37	c.2096C>T	CCDS41355.1	.	.	.	.	.	.	.	.	.	.	C	12.41	1.929342	0.34096	.	.	ENSG00000016602	ENST00000370563	T	0.02944	4.1	4.85	1.11	0.20524	.	1.391330	0.04418	N	0.367083	T	0.01661	0.0053	M	0.73598	2.24	0.09310	N	1	B;B	0.34399	0.135;0.452	B;B	0.29785	0.017;0.107	T	0.45775	-0.9238	10	0.52906	T	0.07	-1.1127	7.2149	0.25955	0.0:0.3447:0.0:0.6553	.	251;699	Q9NXP1;Q14CN2	.;CLCA4_HUMAN	V	699	ENSP00000359594:A699V	ENSP00000359594:A699V	A	+	2	0	CLCA4	86816317	0.001000	0.12720	0.000000	0.03702	0.007000	0.05969	1.100000	0.31025	0.126000	0.18424	0.655000	0.94253	GCG		0.403	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028292.1	NM_012128		19	16	0	0	0	1	0	19	16				
IFNW1	3467	broad.mit.edu	37	9	21141038	21141038	+	Missense_Mutation	SNP	A	A	C			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr9:21141038A>C	ENST00000380229.2	-	1	1106	c.532T>G	c.(532-534)Tca>Gca	p.S178A		NM_002177.1	NP_002168.1	P05000	IFNW1_HUMAN	interferon, omega 1	178					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|cell cycle arrest (GO:0007050)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			endometrium(1)|kidney(1)|lung(2)|ovary(1)	5				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		ATGTTTGTTGATAAGAACAAG	0.398																																						ENST00000380229.2																			0				endometrium(1)|kidney(1)|lung(2)|ovary(1)	5						c.(532-534)Tca>Gca		interferon, omega 1							127.0	116.0	120.0					9																	21141038		2203	4300	6503	SO:0001583	missense	3467				cell cycle arrest|defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21141038A>C		CCDS6496.1	9p22	2010-12-10			ENSG00000177047	ENSG00000177047		"""Interferons"""	5448	protein-coding gene	gene with protein product	"""IFN-omega 1, interferon omega-1"""	147553				1385305	Standard	NM_002177		Approved		uc003zol.1	P05000	OTTHUMG00000019656	ENST00000380229.2:c.532T>G	9.37:g.21141038A>C	ENSP00000369578:p.Ser178Ala						p.S178A	NM_002177.1	NP_002168.1	P05000	IFNW1_HUMAN		GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	1	1106	-			178					Q13168|Q5U802|Q5VWD0|Q7M4P5	Missense_Mutation	SNP	ENST00000380229.2	37	c.532T>G	CCDS6496.1	.	.	.	.	.	.	.	.	.	.	A	11.76	1.735798	0.30774	.	.	ENSG00000177047	ENST00000380229	T	0.03801	3.8	4.57	-0.907	0.10521	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.975690	0.08362	N	0.957588	T	0.07458	0.0188	M	0.67569	2.06	0.09310	N	1	B	0.17268	0.021	B	0.33042	0.157	T	0.49351	-0.8949	10	0.72032	D	0.01	.	1.4426	0.02357	0.465:0.1534:0.0858:0.2958	.	178	P05000	IFNW1_HUMAN	A	178	ENSP00000369578:S178A	ENSP00000369578:S178A	S	-	1	0	IFNW1	21131038	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.439000	0.06897	-0.346000	0.08312	-0.429000	0.05907	TCA		0.398	IFNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051885.1	NM_002177		6	195	0	0	0	1	0	6	195				
BOD1L1	259282	broad.mit.edu	37	4	13604541	13604541	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr4:13604541T>C	ENST00000040738.5	-	10	4118	c.3983A>G	c.(3982-3984)cAa>cGa	p.Q1328R		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1328						nucleus (GO:0005634)	DNA binding (GO:0003677)										AGTCAGACTTTGGTTAGGGAG	0.458																																						ENST00000040738.5																			0											c.(3982-3984)cAa>cGa		biorientation of chromosomes in cell division 1-like 1							146.0	138.0	141.0					4																	13604541		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13604541T>C	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.3983A>G	4.37:g.13604541T>C	ENSP00000040738:p.Gln1328Arg						p.Q1328R	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			10	4118	-			1328					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.3983A>G	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	T	16.04	3.009516	0.54361	.	.	ENSG00000038219	ENST00000040738	T	0.07216	3.21	5.42	3.08	0.35506	.	0.771673	0.11438	N	0.564094	T	0.06096	0.0158	L	0.27053	0.805	0.09310	N	1	B	0.33694	0.421	B	0.29942	0.109	T	0.37709	-0.9694	10	0.15952	T	0.53	-8.9323	11.0911	0.48117	0.0:0.0:0.5318:0.4682	.	1328	Q8NFC6	BOD1L_HUMAN	R	1328	ENSP00000040738:Q1328R	ENSP00000040738:Q1328R	Q	-	2	0	BOD1L	13213639	0.000000	0.05858	0.010000	0.14722	0.006000	0.05464	0.111000	0.15458	0.867000	0.35654	0.460000	0.39030	CAA		0.458	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		31	142	0	0	0	1	0	31	142				
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C	rs372167638		TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1				zinc finger protein 733, pseudogene																		CTTATGTCTAGTAAGGTTTGA	0.438																																						ENST00000331425.6																			0																																																			0							g.chr7:62752443G>C			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752443G>C								NR_003952.1						0	992	-									RNA	SNP	ENST00000331425.6	37																																																																																						0.438	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			3	50	0	0	0	1	0	3	50				
SLC9B1	150159	broad.mit.edu	37	4	103870460	103870460	+	Silent	SNP	T	T	C			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr4:103870460T>C	ENST00000296422.7	-	4	477	c.336A>G	c.(334-336)ttA>ttG	p.L112L	SLC9B1_ENST00000394789.3_Silent_p.L112L	NM_139173.3	NP_631912	Q4ZJI4	SL9B1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	112					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										TAATGAGTTGTAAAATTTTTC	0.348																																						ENST00000296422.7																			0											c.(334-336)ttA>ttG		solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1							47.0	51.0	50.0					4																	103870460		2191	4286	6477	SO:0001819	synonymous_variant	150159					integral to membrane	solute:hydrogen antiporter activity	g.chr4:103870460T>C	AF447585	CCDS34041.1, CCDS47119.1	4q24	2013-05-22	2012-03-22	2011-07-26	ENSG00000164037	ENSG00000164037		"""Solute carriers"""	24244	protein-coding gene	gene with protein product		611527	"""Na+/H+ exchanger domain containing 1"", ""solute carrier family 9, subfamily B (cation proton antiporter 2), member 1"""	NHEDC1		16850186	Standard	NM_139173		Approved	NHA1	uc003hww.3	Q4ZJI4	OTTHUMG00000161114	ENST00000296422.7:c.336A>G	4.37:g.103870460T>C						SLC9B1_ENST00000394789.3_Silent_p.L112L	p.L112L	NM_139173.3	NP_631912.2	Q4ZJI4	NHDC1_HUMAN			4	477	-			112					A1KXV1|B9EH04|C9JBP7|Q49A30|Q8NCV2|Q8WVZ0	Silent	SNP	ENST00000296422.7	37	c.336A>G	CCDS34041.1																																																																																				0.348	SLC9B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363841.1	NM_139173		5	206	0	0	0	1	0	5	206				
CDHR2	54825	broad.mit.edu	37	5	176016160	176016160	+	Silent	SNP	C	C	T			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr5:176016160C>T	ENST00000510636.1	+	22	3259	c.2985C>T	c.(2983-2985)gcC>gcT	p.A995A	CDHR2_ENST00000506348.1_Silent_p.A995A|CDHR2_ENST00000261944.5_Silent_p.A995A	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	995	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CCTCCGAGGCCGACGTGTTCG	0.622																																						ENST00000510636.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						c.(2983-2985)gcC>gcT		cadherin-related family member 2							155.0	155.0	155.0					5																	176016160		2203	4300	6503	SO:0001819	synonymous_variant	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176016160C>T	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.2985C>T	5.37:g.176016160C>T						CDHR2_ENST00000506348.1_Silent_p.A995A|CDHR2_ENST00000261944.5_Silent_p.A995A	p.A995A	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN			22	3259	+			995			Cadherin 9.		A1L3U4|A6NC80|Q9NXP8	Silent	SNP	ENST00000510636.1	37	c.2985C>T	CCDS34297.1																																																																																				0.622	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		31	374	0	0	0	1	0	31	374				
FRAS1	80144	broad.mit.edu	37	4	79328944	79328944	+	Silent	SNP	A	A	G	rs115193980		TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr4:79328944A>G	ENST00000325942.6	+	31	4697	c.4257A>G	c.(4255-4257)gtA>gtG	p.V1419V	FRAS1_ENST00000264895.6_Silent_p.V1419V	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1419					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AAGGCATCGTATGGTACAGGC	0.567													A|||	1	0.000199681	0.0	0.0	5008	,	,		17689	0.0		0.001	False		,,,				2504	0.0					ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(4255-4257)gtA>gtG		Fraser syndrome 1		A	,	0,4234		0,0,2117	73.0	81.0	78.0		4257,4257	0.8	1.0	4	dbSNP_132	78	3,8463		0,3,4230	no	coding-synonymous,coding-synonymous	FRAS1	NM_001166133.1,NM_025074.6	,	0,3,6347	GG,GA,AA		0.0354,0.0,0.0236	,	1419/1977,1419/4013	79328944	3,12697	2117	4233	6350	SO:0001819	synonymous_variant	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79328944A>G	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.4257A>G	4.37:g.79328944A>G						FRAS1_ENST00000325942.6_Silent_p.V1419V	p.V1419V	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			31	4697	+			1418					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000325942.6	37	c.4257A>G	CCDS54772.1																																																																																				0.567	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			6	67	0	0	0	1	0	6	67				
RASGRF1	5923	broad.mit.edu	37	15	79296448	79296448	+	Silent	SNP	C	C	T			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr15:79296448C>T	ENST00000419573.3	-	16	2467	c.2193G>A	c.(2191-2193)ccG>ccA	p.P731P	RASGRF1_ENST00000394745.3_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.P715P|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	731	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GGGTGGCGCGCGGGGACTTGG	0.622																																						ENST00000419573.3																			0				breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2191-2193)ccG>ccA		Ras protein-specific guanine nucleotide-releasing factor 1							35.0	42.0	40.0					15																	79296448		2196	4293	6489	SO:0001819	synonymous_variant	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79296448C>T	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.2193G>A	15.37:g.79296448C>T						RASGRF1_ENST00000394745.3_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.P715P|RASGRF1_ENST00000560334.1_5'UTR	p.P731P	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN			16	2467	-			731			N-terminal Ras-GEF.		F8VPA5|H0YKF2|J3KQP9|Q16027	Silent	SNP	ENST00000419573.3	37	c.2193G>A	CCDS10309.1																																																																																				0.622	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		64	103	0	0	0	1	0	64	103				
EPHB4	2050	broad.mit.edu	37	7	100417218	100417218	+	Missense_Mutation	SNP	C	C	T	rs61735975		TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr7:100417218C>T	ENST00000358173.3	-	6	1726	c.1258G>A	c.(1258-1260)Gtc>Atc	p.V420I	EPHB4_ENST00000477446.1_5'UTR|EPHB4_ENST00000360620.3_Missense_Mutation_p.V420I|RN7SL750P_ENST00000582814.1_RNA	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	420	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.V420I(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					TCAAATGGGACGGGCCCCGTG	0.612													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15965	0.0		0.0	False		,,,				2504	0.0				GBM(200;2113 3072 25865 52728)	ENST00000358173.3																			1	Substitution - Missense(1)	p.V420I(1)	large_intestine(1)	breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47						c.(1258-1260)Gtc>Atc		EPH receptor B4		C	ILE/VAL	3,4403	6.2+/-15.9	0,3,2200	91.0	87.0	88.0		1258	1.2	0.0	7	dbSNP_129	88	1,8599	1.2+/-3.3	0,1,4299	yes	missense	EPHB4	NM_004444.4	29	0,4,6499	TT,TC,CC		0.0116,0.0681,0.0308	benign	420/988	100417218	4,13002	2203	4300	6503	SO:0001583	missense	2050				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:100417218C>T	AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3395	protein-coding gene	gene with protein product		600011	"""EphB4"""	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.1258G>A	7.37:g.100417218C>T	ENSP00000350896:p.Val420Ile					EPHB4_ENST00000477446.1_5'UTR|EPHB4_ENST00000360620.3_Missense_Mutation_p.V420I	p.V420I	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN			6	1726	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		420			Fibronectin type-III 1.		B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Missense_Mutation	SNP	ENST00000358173.3	37	c.1258G>A	CCDS5706.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	12.41	1.929234	0.34096	6.81E-4	1.16E-4	ENSG00000196411	ENST00000360620;ENST00000358173	T;T	0.54071	0.59;0.59	5.46	1.2	0.21068	Fibronectin, type III (2);	0.813262	0.10268	N	0.695167	T	0.41743	0.1172	L	0.43152	1.355	0.09310	N	1	B;B;B	0.12013	0.004;0.002;0.005	B;B;B	0.04013	0.001;0.0;0.001	T	0.34527	-0.9825	10	0.46703	T	0.11	.	6.9927	0.24763	0.0:0.5748:0.2663:0.1589	.	420;420;420	B5A970;Q96L35;P54760	.;.;EPHB4_HUMAN	I	420	ENSP00000353833:V420I;ENSP00000350896:V420I	ENSP00000350896:V420I	V	-	1	0	EPHB4	100255154	0.003000	0.15002	0.001000	0.08648	0.779000	0.44077	0.705000	0.25675	0.645000	0.30675	-0.119000	0.15052	GTC		0.612	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444		9	219	0	0	0	1	0	9	219				
TNIP3	79931	broad.mit.edu	37	4	122085268	122085268	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr4:122085268C>T	ENST00000509841.1	-	4	322	c.244G>A	c.(244-246)Gta>Ata	p.V82I	TNIP3_ENST00000057513.3_Missense_Mutation_p.V5I|TNIP3_ENST00000454328.1_Missense_Mutation_p.V5I|TNIP3_ENST00000507879.1_Missense_Mutation_p.V75I	NM_001244764.1	NP_001231693.1			TNFAIP3 interacting protein 3											NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						GTGCCCTGTACAAAATGTGCC	0.398																																						ENST00000454328.1																			0				NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						c.(13-15)Gta>Ata		TNFAIP3 interacting protein 3							116.0	109.0	111.0					4																	122085268		2203	4300	6503	SO:0001583	missense	79931							g.chr4:122085268C>T	AJ320534	CCDS3718.1, CCDS58925.1, CCDS58926.1	4q27	2008-02-05			ENSG00000050730	ENSG00000050730			19315	protein-coding gene	gene with protein product		608019				11345586	Standard	NM_024873		Approved	LIND, FLJ21162, ABIN-3	uc021xrj.1	Q96KP6	OTTHUMG00000132969	ENST00000509841.1:c.244G>A	4.37:g.122085268C>T	ENSP00000426613:p.Val82Ile					TNIP3_ENST00000507879.1_Missense_Mutation_p.V75I|TNIP3_ENST00000509841.1_Missense_Mutation_p.V82I|TNIP3_ENST00000057513.3_Missense_Mutation_p.V5I	p.V5I			Q96KP6	TNIP3_HUMAN			3	240	-			5						Missense_Mutation	SNP	ENST00000509841.1	37	c.13G>A	CCDS58926.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.059511	0.36373	.	.	ENSG00000050730	ENST00000057513;ENST00000454328;ENST00000507879;ENST00000509841	T;T;T;T	0.48522	0.81;0.81;0.9;0.89	5.44	-0.979	0.10276	.	1.208450	0.06255	N	0.692740	T	0.38612	0.1047	L	0.51422	1.61	0.09310	N	1	B;B;B	0.28933	0.228;0.228;0.228	B;B;B	0.27796	0.083;0.083;0.083	T	0.34329	-0.9833	10	0.54805	T	0.06	0.3416	4.2057	0.10488	0.2575:0.3101:0.3573:0.0752	.	75;5;5	B4DVF5;A5HU65;Q96KP6	.;.;TNIP3_HUMAN	I	5;5;75;82	ENSP00000057513:V5I;ENSP00000411817:V5I;ENSP00000427106:V75I;ENSP00000426613:V82I	ENSP00000057513:V5I	V	-	1	0	TNIP3	122304718	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	-0.630000	0.05502	-0.333000	0.08476	0.650000	0.86243	GTA		0.398	TNIP3-003	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364000.4	NM_024873		6	203	0	0	0	1	0	6	203				
MTMR3	8897	broad.mit.edu	37	22	30414015	30414015	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr22:30414015C>G	ENST00000401950.2	+	16	2116	c.1774C>G	c.(1774-1776)Cca>Gca	p.P592A	MTMR3_ENST00000406629.1_Missense_Mutation_p.P592A|MTMR3_ENST00000351488.3_Missense_Mutation_p.P592A|MTMR3_ENST00000323630.5_Missense_Mutation_p.P456A|CTA-85E5.10_ENST00000429350.1_RNA|CTA-85E5.10_ENST00000453743.2_RNA|MTMR3_ENST00000333027.3_Missense_Mutation_p.P592A	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	592					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			CAGCTGTGCACCATACCCAGC	0.632																																						ENST00000333027.3																			0				breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17						c.(1774-1776)Cca>Gca		myotubularin related protein 3							127.0	93.0	104.0					22																	30414015		2203	4300	6503	SO:0001583	missense	8897				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr22:30414015C>G	U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.1774C>G	22.37:g.30414015C>G	ENSP00000384651:p.Pro592Ala					CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000323630.5_Missense_Mutation_p.P456A|MTMR3_ENST00000406629.1_Missense_Mutation_p.P592A|MTMR3_ENST00000401950.2_Missense_Mutation_p.P592A|MTMR3_ENST00000351488.3_Missense_Mutation_p.P592A	p.P592A	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)		16	2102	+			592					A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Missense_Mutation	SNP	ENST00000401950.2	37	c.1774C>G	CCDS13870.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.522309	0.85600	.	.	ENSG00000100330	ENST00000401950;ENST00000333027;ENST00000323630;ENST00000351488;ENST00000406629	D;D;D;D;D	0.92911	-2.93;-2.91;-3.13;-2.95;-2.91	5.93	5.93	0.95920	.	0.107351	0.64402	D	0.000004	D	0.92815	0.7715	L	0.43152	1.355	0.80722	D	1	D;P;D	0.53619	0.961;0.76;0.961	P;B;P	0.56042	0.79;0.416;0.79	D	0.89764	0.3949	10	0.18710	T	0.47	.	19.3216	0.94243	0.0:1.0:0.0:0.0	.	592;592;592	Q13615-3;Q13615;Q13615-2	.;MTMR3_HUMAN;.	A	592;592;456;592;592	ENSP00000384651:P592A;ENSP00000331649:P592A;ENSP00000318070:P456A;ENSP00000307271:P592A;ENSP00000384077:P592A	ENSP00000318070:P456A	P	+	1	0	MTMR3	28744015	1.000000	0.71417	0.955000	0.39395	0.987000	0.75469	7.298000	0.78815	2.818000	0.97014	0.591000	0.81541	CCA		0.632	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1	NM_021090		12	173	0	0	0	1	0	12	173				
ASMT	438	broad.mit.edu	37	X	1743284	1743284	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chrX:1743284G>A	ENST00000381229.4	+	3	403	c.367G>A	c.(367-369)Gcc>Acc	p.A123T	ASMT_ENST00000381241.3_Missense_Mutation_p.A123T|ASMT_ENST00000381233.3_Missense_Mutation_p.A123T			P46597	ASMT_HUMAN	acetylserotonin O-methyltransferase	123					cellular nitrogen compound metabolic process (GO:0034641)|indolalkylamine biosynthetic process (GO:0046219)|melatonin biosynthetic process (GO:0030187)|negative regulation of male gonad development (GO:2000019)|small molecule metabolic process (GO:0044281)|translation (GO:0006412)	cytosol (GO:0005829)	acetylserotonin O-methyltransferase activity (GO:0017096)|identical protein binding (GO:0042802)|O-methyltransferase activity (GO:0008171)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Melatonin(DB01065)	CCTGGCAGACGCCGTGAGGTG	0.677																																						ENST00000381241.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16						c.(367-369)Gcc>Acc		acetylserotonin O-methyltransferase			THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	77.0	71.0	73.0		367,367,367	1.8	0.0	X		73	3,8589		0,3,4293	no	missense,missense,missense	ASMT	NM_001171038.1,NM_001171039.1,NM_004043.2	58,58,58	0,3,6496	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging,probably-damaging,probably-damaging	123/374,123/299,123/374	1743284	3,12995	2203	4296	6499	SO:0001583	missense	438				melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity	g.chrX:1743284G>A	M83779	CCDS14117.1, CCDS55364.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000196433	ENSG00000196433	2.1.1.4	"""Pseudoautosomal regions / PAR1"""	750	protein-coding gene	gene with protein product		300015, 402500				8397829, 7989373	Standard	NM_004043		Approved	HIOMT, ASMTY, HIOMTY	uc010ncy.3	P46597	OTTHUMG00000021065	ENST00000381229.4:c.367G>A	X.37:g.1743284G>A	ENSP00000370627:p.Ala123Thr					ASMT_ENST00000381229.4_Missense_Mutation_p.A123T|ASMT_ENST00000381233.3_Missense_Mutation_p.A123T	p.A123T	NM_001171038.1|NM_004043.2	NP_001164509.1|NP_004034.2	P46597	HIOM_HUMAN			3	566	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	123					B2RC33|Q16598|Q5JQ72|Q5JQ73	Missense_Mutation	SNP	ENST00000381229.4	37	c.367G>A		.	.	.	.	.	.	.	.	.	.	g	16.65	3.182448	0.57800	0.0	3.49E-4	ENSG00000196433	ENST00000381241;ENST00000381229;ENST00000381233	T;T;T	0.27256	1.68;1.68;2.05	1.77	1.77	0.24775	.	0.066356	0.64402	U	0.000016	T	0.47673	0.1458	M	0.77406	2.37	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.984	T	0.32107	-0.9919	10	0.87932	D	0	.	10.6448	0.45613	0.0:0.0:1.0:0.0	.	123;123	P46597-2;P46597-3	.;.	T	123	ENSP00000370639:A123T;ENSP00000370627:A123T;ENSP00000370631:A123T	ENSP00000370627:A123T	A	+	1	0	ASMT	1703284	0.687000	0.27671	0.007000	0.13788	0.009000	0.06853	3.103000	0.50298	0.653000	0.30826	0.415000	0.27848	GCC		0.677	ASMT-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000055612.1	NM_004043		7	165	0	0	0	1	0	7	165				
OR1S2	219958	broad.mit.edu	37	11	57971193	57971193	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr11:57971193C>T	ENST00000302592.6	-	1	460	c.461G>A	c.(460-462)gGc>gAc	p.G154D		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	154						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				GAGCAAAGTGCCGAACCTGGC	0.488																																						ENST00000302592.6																			0				endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46						c.(460-462)gGc>gAc		olfactory receptor, family 1, subfamily S, member 2							179.0	168.0	172.0					11																	57971193		2201	4296	6497	SO:0001583	missense	219958				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57971193C>T	BK004297	CCDS31545.1	11q12.1	2012-08-09			ENSG00000197887	ENSG00000197887		"""GPCR / Class A : Olfactory receptors"""	15141	protein-coding gene	gene with protein product							Standard	NM_001004459		Approved		uc010rkb.2	Q8NGQ3	OTTHUMG00000167541	ENST00000302592.6:c.461G>A	11.37:g.57971193C>T	ENSP00000305469:p.Gly154Asp						p.G154D	NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN			1	460	-		Breast(21;0.0589)	154					Q6IFG5|Q96R85	Missense_Mutation	SNP	ENST00000302592.6	37	c.461G>A	CCDS31545.1	.	.	.	.	.	.	.	.	.	.	C	8.008	0.756873	0.15846	.	.	ENSG00000197887	ENST00000302592	T	0.38077	1.16	4.47	4.47	0.54385	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000056	T	0.32645	0.0836	N	0.19112	0.55	0.09310	N	1	B	0.32283	0.362	B	0.40565	0.333	T	0.42275	-0.9461	10	0.87932	D	0	.	16.2399	0.82401	0.0:1.0:0.0:0.0	.	154	Q8NGQ3	OR1S2_HUMAN	D	154	ENSP00000305469:G154D	ENSP00000305469:G154D	G	-	2	0	OR1S2	57727769	0.035000	0.19736	0.046000	0.18839	0.027000	0.11550	1.955000	0.40372	2.481000	0.83766	0.655000	0.94253	GGC		0.488	OR1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394703.2	NM_001004459		5	334	0	0	0	1	0	5	334				
GRIK4	2900	broad.mit.edu	37	11	120776054	120776054	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr11:120776054G>A	ENST00000527524.2	+	13	1615	c.1328G>A	c.(1327-1329)cGc>cAc	p.R443H	GRIK4_ENST00000438375.2_Missense_Mutation_p.R443H	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	443					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.R443H(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		GGCAATGACCGCTACGAGGGC	0.547																																						ENST00000527524.2																			1	Substitution - Missense(1)	p.R443H(1)	large_intestine(1)	NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69						c.(1327-1329)cGc>cAc		glutamate receptor, ionotropic, kainate 4	L-Glutamic Acid(DB00142)						195.0	191.0	192.0					11																	120776054		2203	4299	6502	SO:0001583	missense	2900				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr11:120776054G>A	S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.1328G>A	11.37:g.120776054G>A	ENSP00000435648:p.Arg443His					GRIK4_ENST00000438375.2_Missense_Mutation_p.R443H	p.R443H			Q16099	GRIK4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	13	1615	+		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)	443					A8K9L1	Missense_Mutation	SNP	ENST00000527524.2	37	c.1328G>A	CCDS8433.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.396411	0.83011	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	T;T	0.78481	-1.18;-1.18	5.47	5.47	0.80525	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	D	0.87358	0.6157	M	0.65498	2.005	0.58432	D	0.999999	D;D	0.76494	0.998;0.999	D;D	0.70935	0.971;0.95	D	0.88241	0.2910	10	0.87932	D	0	.	19.323	0.94250	0.0:0.0:1.0:0.0	.	443;443	A6H8K8;Q16099	.;GRIK4_HUMAN	H	443	ENSP00000435648:R443H;ENSP00000404063:R443H	ENSP00000404063:R443H	R	+	2	0	GRIK4	120281264	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.298000	0.65710	2.561000	0.86390	0.655000	0.94253	CGC		0.547	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	NM_014619		5	408	0	0	0	1	0	5	408				
OR8D1	283159	broad.mit.edu	37	11	124180055	124180055	+	Missense_Mutation	SNP	G	G	A	rs564327621		TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr11:124180055G>A	ENST00000357821.2	-	1	678	c.608C>T	c.(607-609)gCg>gTg	p.A203V		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	203						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A203V(1)		kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		GTTAAACCCCGCAATGATAAA	0.488													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21112	0.0		0.0	False		,,,				2504	0.0					ENST00000357821.2																			1	Substitution - Missense(1)	p.A203V(1)	upper_aerodigestive_tract(1)	kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(607-609)gCg>gTg		olfactory receptor, family 8, subfamily D, member 1							51.0	41.0	44.0					11																	124180055		2201	4299	6500	SO:0001583	missense	283159				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124180055G>A	AF238489	CCDS31706.1	11q25	2012-08-09			ENSG00000196341	ENSG00000196341		"""GPCR / Class A : Olfactory receptors"""	8481	protein-coding gene	gene with protein product				OR8D3			Standard	NM_001002917		Approved	OST004	uc010sag.2	Q8WZ84	OTTHUMG00000165977	ENST00000357821.2:c.608C>T	11.37:g.124180055G>A	ENSP00000350474:p.Ala203Val						p.A203V	NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)	1	678	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	203					B2RNL4|Q6IEW1|Q8NGH0	Missense_Mutation	SNP	ENST00000357821.2	37	c.608C>T	CCDS31706.1	.	.	.	.	.	.	.	.	.	.	g	11.84	1.759592	0.31137	.	.	ENSG00000196341	ENST00000357821	T	0.37915	1.17	4.29	-7.61	0.01299	GPCR, rhodopsin-like superfamily (1);	0.505559	0.14425	U	0.320389	T	0.15132	0.0365	N	0.17345	0.48	0.09310	N	1	B	0.18310	0.027	B	0.14578	0.011	T	0.14062	-1.0486	10	0.23302	T	0.38	.	8.009	0.30342	0.2951:0.463:0.2419:0.0	.	203	Q8WZ84	OR8D1_HUMAN	V	203	ENSP00000350474:A203V	ENSP00000350474:A203V	A	-	2	0	OR8D1	123685265	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-1.436000	0.02421	-1.510000	0.01796	-0.363000	0.07495	GCG		0.488	OR8D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387285.1	NM_001002917		14	47	0	0	0	1	0	14	47				
CAMKMT	79823	broad.mit.edu	37	2	44993588	44993588	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr2:44993588C>T	ENST00000378494.3	+	10	826	c.782C>T	c.(781-783)gCc>gTc	p.A261V		NM_024766.4	NP_079042.1	Q7Z624	CMKMT_HUMAN	calmodulin-lysine N-methyltransferase	261						Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	calmodulin-lysine N-methyltransferase activity (GO:0018025)			breast(2)|large_intestine(3)|lung(5)	10						ATGGTATTTGCCCCACGCCGA	0.358																																						ENST00000378494.3																			0				breast(2)|large_intestine(3)|lung(5)	10						c.(781-783)gCc>gTc		calmodulin-lysine N-methyltransferase							93.0	88.0	90.0					2																	44993588		2203	4300	6503	SO:0001583	missense	79823					cytoplasm	calmodulin-lysine N-methyltransferase activity	g.chr2:44993588C>T		CCDS1820.1	2p21	2011-06-22	2011-03-10	2011-03-10	ENSG00000143919	ENSG00000143919	2.1.1.60		26276	protein-coding gene	gene with protein product	"""CaM KMT"""	609559	"""chromosome 2 open reading frame 34"""	C2orf34		20975703	Standard	NM_024766		Approved	CLNMT	uc002rum.3	Q7Z624	OTTHUMG00000128761	ENST00000378494.3:c.782C>T	2.37:g.44993588C>T	ENSP00000367755:p.Ala261Val						p.A261V	NM_024766.3	NP_079042.1	Q7Z624	CMKMT_HUMAN			10	826	+			261					Q4ZG15|Q53SS6|Q8N6P5|Q9H5G8	Missense_Mutation	SNP	ENST00000378494.3	37	c.782C>T	CCDS1820.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.262601	0.80358	.	.	ENSG00000143919	ENST00000378494	T	0.06068	3.35	5.33	5.33	0.75918	.	0.050418	0.85682	D	0.000000	T	0.24044	0.0582	L	0.61036	1.89	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00234	-1.1893	10	0.40728	T	0.16	-7.5834	19.0385	0.92989	0.0:1.0:0.0:0.0	.	261	Q7Z624	CMKMT_HUMAN	V	261	ENSP00000367755:A261V	ENSP00000367755:A261V	A	+	2	0	CAMKMT	44847092	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.931000	0.75863	2.484000	0.83849	0.650000	0.86243	GCC		0.358	CAMKMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250678.2	NM_024766		4	150	0	0	0	1	0	4	150				
HLA-DRB6	3128	broad.mit.edu	37	6	32521666	32521666	+	RNA	SNP	T	T	C	rs373357111		TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr6:32521666T>C	ENST00000411500.1	-	0	817					NR_001298.1				major histocompatibility complex, class II, DR beta 6 (pseudogene)																		AACAGCCCTGTCCCAAGGAAG	0.507																																						ENST00000411500.1																			0																																																			0							g.chr6:32521666T>C	L76566		6p21.3	2011-07-08			ENSG00000229391	ENSG00000229391		"""Histocompatibility complex"""	4954	pseudogene	pseudogene						1529427, 10436177	Standard	NR_001298		Approved		uc003obn.1		OTTHUMG00000031028		6.37:g.32521666T>C								NR_001298.1						0	817	-									RNA	SNP	ENST00000411500.1	37																																																																																						0.507	HLA-DRB6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000272900.1	NR_001298		3	48	0	0	0	1	0	3	48				
ZBTB20	26137	broad.mit.edu	37	3	114058118	114058118	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr3:114058118G>A	ENST00000474710.1	-	5	2138	c.1960C>T	c.(1960-1962)Cgc>Tgc	p.R654C	ZBTB20_ENST00000462705.1_Missense_Mutation_p.R581C|ZBTB20_ENST00000481632.1_Missense_Mutation_p.R581C|ZBTB20_ENST00000471418.1_Missense_Mutation_p.R581C|ZBTB20_ENST00000393785.2_Missense_Mutation_p.R581C|ZBTB20_ENST00000357258.3_Missense_Mutation_p.R581C|ZBTB20_ENST00000464560.1_Missense_Mutation_p.R581C	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	654						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 negative regulation of transcription (GO:0001078)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CGGTGGAGGCGCATGTGCACG	0.552																																					NSCLC(69;748 1344 9802 11203 30933)	ENST00000462705.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(1741-1743)Cgc>Tgc		zinc finger and BTB domain containing 20							201.0	177.0	185.0					3																	114058118		2203	4300	6503	SO:0001583	missense	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114058118G>A	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.1960C>T	3.37:g.114058118G>A	ENSP00000419153:p.Arg654Cys					ZBTB20_ENST00000464560.1_Missense_Mutation_p.R581C|ZBTB20_ENST00000393785.2_Missense_Mutation_p.R581C|ZBTB20_ENST00000357258.3_Missense_Mutation_p.R581C|ZBTB20_ENST00000471418.1_Missense_Mutation_p.R581C|ZBTB20_ENST00000474710.1_Missense_Mutation_p.R654C|ZBTB20_ENST00000481632.1_Missense_Mutation_p.R581C	p.R581C	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	12	2562	-			654					Q63HP6|Q8N6R5|Q9Y410	Missense_Mutation	SNP	ENST00000474710.1	37	c.1741C>T	CCDS54626.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.725321	0.68959	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560	T;T;T;T;T;T;T	0.10192	2.9;2.9;2.9;2.9;2.9;2.9;2.9	5.97	5.97	0.96955	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.38612	0.1047	M	0.78916	2.43	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.05937	-1.0855	10	0.87932	D	0	.	20.4387	0.99107	0.0:0.0:1.0:0.0	.	654	Q9HC78	ZBT20_HUMAN	C	581;581;581;581;654;581;581	ENSP00000420324:R581C;ENSP00000377375:R581C;ENSP00000418092:R581C;ENSP00000419902:R581C;ENSP00000419153:R654C;ENSP00000349803:R581C;ENSP00000417307:R581C	ENSP00000349803:R581C	R	-	1	0	ZBTB20	115540808	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.836000	0.97738	0.655000	0.94253	CGC		0.552	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		26	289	0	0	0	1	0	26	289				
RRN3	54700	broad.mit.edu	37	16	15188060	15188060	+	Missense_Mutation	SNP	G	G	A	rs201504364		TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr16:15188060G>A	ENST00000198767.6	-	1	114	c.31C>T	c.(31-33)Ccg>Tcg	p.P11S	PDXDC1_ENST00000535621.2_Intron|RP11-72I8.1_ENST00000569858.1_RNA|RRN3_ENST00000429751.2_Missense_Mutation_p.P11S|RRN3_ENST00000563559.1_Missense_Mutation_p.P11S|RRN3_ENST00000564131.1_Missense_Mutation_p.P11S|RRN3_ENST00000327307.7_5'Flank	NM_018427.3	NP_060897.3	Q9NYV6	RRN3_HUMAN	RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae)	11					cell proliferation (GO:0008283)|cytoplasm organization (GO:0007028)|gene expression (GO:0010467)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902254)|nucleolus organization (GO:0007000)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, initiation (GO:2000142)|ribosome biogenesis (GO:0042254)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.P11S(3)		NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)	20						GCATCTCCCGGCAAACGCGTG	0.637																																						ENST00000198767.6																			3	Substitution - Missense(3)	p.P11S(3)	lung(1)|prostate(1)|central_nervous_system(1)	NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)	20						c.(31-33)Ccg>Tcg		RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae)							15.0	14.0	14.0					16																	15188060		2193	4294	6487	SO:0001583	missense	54700				regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm		g.chr16:15188060G>A	AF227156	CCDS10559.1, CCDS73833.1	16p13.11	2009-10-26	2006-04-04		ENSG00000085721	ENSG00000085721			30346	protein-coding gene	gene with protein product		605121	"""RRN3 RNA polymerase I transcription factor homolog (yeast)"""			10758157, 11250903	Standard	XM_005255375		Approved	DKFZp566E104	uc002dde.3	Q9NYV6	OTTHUMG00000129847	ENST00000198767.6:c.31C>T	16.37:g.15188060G>A	ENSP00000198767:p.Pro11Ser					PDXDC1_ENST00000535621.2_Intron|RRN3_ENST00000429751.2_Missense_Mutation_p.P11S|RRN3_ENST00000564131.1_Missense_Mutation_p.P11S|RRN3_ENST00000563559.1_Missense_Mutation_p.P11S	p.P11S	NM_018427.3	NP_060897.3	Q9NYV6	RRN3_HUMAN			1	114	-			11					A2RTY9|B4E0J7|B4E3T2|Q3MHU9|Q6IPL4|Q9H4F0	Missense_Mutation	SNP	ENST00000198767.6	37	c.31C>T	CCDS10559.1	.	.	.	.	.	.	.	.	.	.	.	10.34	1.323150	0.24080	.	.	ENSG00000085721	ENST00000198767;ENST00000429751	T;T	0.46819	1.02;0.86	3.13	0.948	0.19561	.	.	.	.	.	T	0.19485	0.0468	N	0.08118	0	0.09310	N	0.999994	B;B;B	0.10296	0.0;0.003;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.26538	-1.0100	9	0.06494	T	0.89	.	3.8332	0.08883	0.1556:0.2546:0.5898:0.0	.	11;11;11	F5H148;Q3MHU9;Q9NYV6	.;.;RRN3_HUMAN	S	11	ENSP00000198767:P11S;ENSP00000402027:P11S	ENSP00000198767:P11S	P	-	1	0	RRN3	15095561	0.001000	0.12720	0.003000	0.11579	0.038000	0.13279	0.733000	0.26087	0.121000	0.18284	0.305000	0.20034	CCG		0.637	RRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252087.2	NM_018427		3	22	0	0	0	1	0	3	22				
LRP1B	53353	broad.mit.edu	37	2	141264436	141264436	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr2:141264436C>T	ENST00000389484.3	-	53	9421	c.8450G>A	c.(8449-8451)tGc>tAc	p.C2817Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2817	LDL-receptor class A 18. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTTGGGAATGCATACTTTATT	0.383										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(8449-8451)tGc>tAc		low density lipoprotein receptor-related protein 1B							152.0	140.0	144.0					2																	141264436		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141264436C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.8450G>A	2.37:g.141264436C>T	ENSP00000374135:p.Cys2817Tyr	TSP Lung(27;0.18)					p.C2817Y	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	53	9421	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2817			LDL-receptor class A 18.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.8450G>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.958311	0.92726	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.99919	-8.0	5.65	5.65	0.86999	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99953	0.9980	H	0.98612	4.28	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96226	0.9164	10	0.87932	D	0	.	19.7319	0.96186	0.0:1.0:0.0:0.0	.	2817	Q9NZR2	LRP1B_HUMAN	Y	2817;2755	ENSP00000374135:C2817Y	ENSP00000374135:C2817Y	C	-	2	0	LRP1B	140980906	1.000000	0.71417	0.952000	0.39060	0.999000	0.98932	7.684000	0.84104	2.668000	0.90789	0.655000	0.94253	TGC		0.383	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		19	230	0	0	0	1	0	19	230				
ZNF799	90576	broad.mit.edu	37	19	12502322	12502322	+	Missense_Mutation	SNP	C	C	T	rs571340687		TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr19:12502322C>T	ENST00000430385.3	-	4	1090	c.890G>A	c.(889-891)cGa>cAa	p.R297Q	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000419318.1_Missense_Mutation_p.R265Q	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	297					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R297Q(1)|p.R84Q(1)		breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TTCGTGTCTTCGAAGGGAAGT	0.423													C|||	1	0.000199681	0.0	0.0	5008	,	,		23161	0.0		0.0	False		,,,				2504	0.001					ENST00000419318.1																			2	Substitution - Missense(2)	p.R297Q(1)|p.R84Q(1)	large_intestine(2)	breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						c.(793-795)cGa>cAa		zinc finger protein 799							161.0	155.0	157.0					19																	12502322		2203	4300	6503	SO:0001583	missense	90576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12502322C>T	BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"""Zinc fingers, C2H2-type"", ""-"""	28071	protein-coding gene	gene with protein product			"""zinc finger protein 842"""	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.890G>A	19.37:g.12502322C>T	ENSP00000411084:p.Arg297Gln					CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.R297Q	p.R265Q			Q96GE5	ZN799_HUMAN			4	1543	-			297						Missense_Mutation	SNP	ENST00000430385.3	37	c.794G>A	CCDS45989.1	.	.	.	.	.	.	.	.	.	.	C	1.961	-0.438840	0.04636	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.04275	3.66;3.66	1.31	-2.39	0.06602	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02848	0.0085	N	0.24115	0.695	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.48758	-0.9007	9	0.14656	T	0.56	.	5.8875	0.18890	0.0:0.4228:0.0:0.5772	.	297	Q96GE5	ZN799_HUMAN	Q	265;297	ENSP00000415278:R265Q;ENSP00000411084:R297Q	ENSP00000415278:R265Q	R	-	2	0	ZNF799	12363322	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-2.501000	0.00966	-0.784000	0.04528	0.430000	0.28490	CGA		0.423	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		15	334	0	0	0	1	0	15	334				
DNASE1L3	1776	broad.mit.edu	37	3	58191243	58191243	+	Missense_Mutation	SNP	C	C	T	rs561644406		TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr3:58191243C>T	ENST00000394549.2	-	3	591	c.275G>A	c.(274-276)cGg>cAg	p.R92Q	DNASE1L3_ENST00000486455.1_Intron|DNASE1L3_ENST00000483681.1_Missense_Mutation_p.R92Q|DNASE1L3_ENST00000318316.3_Missense_Mutation_p.R92Q	NM_004944.3	NP_004935.1	Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3	92					apoptotic DNA fragmentation (GO:0006309)|developmental programmed cell death (GO:0010623)|DNA metabolic process (GO:0006259)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)|deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		TCTTCCAAGCCGAGAGCTAAT	0.378													C|||	1	0.000199681	0.0	0.0	5008	,	,		22565	0.0		0.0	False		,,,				2504	0.001				Esophageal Squamous(96;1069 1424 4841 43466 52325)	ENST00000483681.1																			0				breast(2)|large_intestine(4)|lung(6)	12						c.(274-276)cGg>cAg		deoxyribonuclease I-like 3							202.0	197.0	199.0					3																	58191243		2202	4299	6501	SO:0001583	missense	1776				apoptosis|DNA catabolic process	nucleus	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters	g.chr3:58191243C>T	AF047354	CCDS2886.1, CCDS58836.1	3p14.3	2008-05-15			ENSG00000163687	ENSG00000163687			2959	protein-coding gene	gene with protein product	"""DNase gamma"""	602244				9205125, 9714828, 14646506	Standard	NM_004944		Approved	DNAS1L3, LSD	uc003djo.2	Q13609	OTTHUMG00000159153	ENST00000394549.2:c.275G>A	3.37:g.58191243C>T	ENSP00000378053:p.Arg92Gln					DNASE1L3_ENST00000486455.1_Intron|DNASE1L3_ENST00000394549.2_Missense_Mutation_p.R92Q|DNASE1L3_ENST00000318316.3_Missense_Mutation_p.R92Q	p.R92Q			Q13609	DNSL3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)	5	856	-			92					B2R8B1|B7Z707|O75803	Missense_Mutation	SNP	ENST00000394549.2	37	c.275G>A	CCDS2886.1	.	.	.	.	.	.	.	.	.	.	C	34	5.377640	0.95945	.	.	ENSG00000163687	ENST00000450710;ENST00000318316;ENST00000483681;ENST00000394549;ENST00000461914;ENST00000460422	T;T;T;T;T	0.58797	0.31;0.31;0.31;0.31;0.31	5.77	5.77	0.91146	Endonuclease/exonuclease/phosphatase (2);	0.000000	0.64402	D	0.000003	T	0.80507	0.4636	M	0.88181	2.935	0.54753	D	0.999988	D;D	0.89917	1.0;1.0	D;D	0.87578	0.995;0.998	T	0.78391	-0.2222	10	0.28530	T	0.3	.	19.9827	0.97334	0.0:1.0:0.0:0.0	.	92;92	E9PES0;Q13609	.;DNSL3_HUMAN	Q	92	ENSP00000316193:R92Q;ENSP00000417047:R92Q;ENSP00000378053:R92Q;ENSP00000418113:R92Q;ENSP00000418509:R92Q	ENSP00000316193:R92Q	R	-	2	0	DNASE1L3	58166283	0.958000	0.32768	0.985000	0.45067	0.968000	0.65278	4.143000	0.58051	2.728000	0.93425	0.655000	0.94253	CGG		0.378	DNASE1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353533.1	NM_004944		6	298	0	0	0	1	0	6	298				
SDS	10993	broad.mit.edu	37	12	113836598	113836598	+	Missense_Mutation	SNP	C	C	T	rs540701675		TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr12:113836598C>T	ENST00000257549.4	-	4	369	c.247G>A	c.(247-249)Gcc>Acc	p.A83T		NM_006843.2	NP_006834.2	P20132	SDHL_HUMAN	serine dehydratase	83					gluconeogenesis (GO:0006094)|L-serine catabolic process (GO:0006565)|pyruvate biosynthetic process (GO:0042866)|response to amino acid (GO:0043200)|response to cobalamin (GO:0033590)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	L-serine ammonia-lyase activity (GO:0003941)|L-threonine ammonia-lyase activity (GO:0004794)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1)	11					L-Serine(DB00133)	ACGATGGTGGCGGGGACGCCG	0.662													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16697	0.0		0.0	False		,,,				2504	0.0					ENST00000257549.4																			0				large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1)	11						c.(247-249)Gcc>Acc		serine dehydratase	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						35.0	32.0	33.0					12																	113836598		2203	4300	6503	SO:0001583	missense	10993				gluconeogenesis|L-serine catabolic process|pyruvate biosynthetic process	cytoplasm	L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding	g.chr12:113836598C>T	J05037	CCDS9169.1	12q24.13	2014-06-24			ENSG00000135094	ENSG00000135094	4.3.1.17		10691	protein-coding gene	gene with protein product	"""L-serine ammonia-lyase"""	182128				2674117	Standard	NM_006843		Approved	SDH	uc001tvg.3	P20132	OTTHUMG00000169554	ENST00000257549.4:c.247G>A	12.37:g.113836598C>T	ENSP00000257549:p.Ala83Thr						p.A83T	NM_006843.2	NP_006834.2	P20132	SDHL_HUMAN			4	369	-			83					A8K9P5	Missense_Mutation	SNP	ENST00000257549.4	37	c.247G>A	CCDS9169.1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.632593	0.29068	.	.	ENSG00000135094;ENSG00000135094;ENSG00000257606	ENST00000257549;ENST00000446302;ENST00000547342	D;D	0.97186	-4.28;-4.28	4.0	1.04	0.20106	Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.121098	0.53938	N	0.000043	D	0.96719	0.8929	M	0.89095	3.005	0.44061	D	0.996803	B;B	0.34399	0.452;0.082	B;B	0.41202	0.35;0.063	D	0.93866	0.7158	10	0.59425	D	0.04	-12.0894	7.6079	0.28113	0.2879:0.6316:0.0:0.0805	.	83;83	Q8WW81;P20132	.;SDHL_HUMAN	T	83;83;177	ENSP00000257549:A83T;ENSP00000449061:A177T	ENSP00000449061:A177T	A	-	1	0	SDS;RP11-303O9.2	112320981	0.950000	0.32346	0.045000	0.18777	0.014000	0.08584	2.112000	0.41892	0.021000	0.15133	-0.268000	0.10319	GCC		0.662	SDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404790.1	NM_006843		16	33	0	0	0	1	0	16	33				
STAB1	23166	broad.mit.edu	37	3	52546660	52546660	+	Splice_Site	SNP	G	G	A			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr3:52546660G>A	ENST00000321725.6	+	28	3103		c.e28+1			NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1						cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		ATGGCTTAAGGTAGGACAGGG	0.562																																						ENST00000321725.6																			0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.e28+1		stabilin 1							70.0	68.0	69.0					3																	52546660		2203	4300	6503	SO:0001630	splice_region_variant	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52546660G>A	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.3027+1G>A	3.37:g.52546660G>A								NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	28	3103	+								A7E297|Q8IUH0|Q8IUH1|Q93072	Splice_Site	SNP	ENST00000321725.6	37		CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.022358	0.75275	.	.	ENSG00000010327	ENST00000321725	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6808	0.88242	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	STAB1	52521700	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	6.980000	0.76160	2.709000	0.92574	0.563000	0.77884	.		0.562	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136	Intron	29	136	0	0	0	1	0	29	136				
GANC	2595	broad.mit.edu	37	15	42614214	42614214	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr15:42614214G>A	ENST00000318010.8	+	11	1529	c.1289G>A	c.(1288-1290)cGt>cAt	p.R430H		NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	430					carbohydrate metabolic process (GO:0005975)		alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)	Miglitol(DB00491)	AGCAAAAAGCGTAAGGTAAAA	0.423																																						ENST00000318010.8																			0				breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1288-1290)cGt>cAt		glucosidase, alpha; neutral C							50.0	44.0	46.0					15																	42614214		2203	4299	6502	SO:0001583	missense	2595				carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity	g.chr15:42614214G>A	AF545045	CCDS10084.1	15q15.2	2012-10-02			ENSG00000214013	ENSG00000214013	3.2.1.20		4139	protein-coding gene	gene with protein product		104180				6995030, 12370436	Standard	NM_198141		Approved		uc001zpi.3	Q8TET4	OTTHUMG00000130487	ENST00000318010.8:c.1289G>A	15.37:g.42614214G>A	ENSP00000326227:p.Arg430His						p.R430H	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN		GBM - Glioblastoma multiforme(94;1.06e-06)	11	1529	+		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)	430					Q52LQ4|Q8IWZ0|Q8IZM4|Q8IZM5	Missense_Mutation	SNP	ENST00000318010.8	37	c.1289G>A	CCDS10084.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.945291	0.92593	.	.	ENSG00000214013	ENST00000318010	D	0.92911	-3.13	5.4	5.4	0.78164	Glycoside hydrolase, superfamily (1);	0.051919	0.64402	D	0.000001	D	0.96405	0.8827	M	0.85859	2.78	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	D	0.96657	0.9486	10	0.66056	D	0.02	-10.4203	19.18	0.93619	0.0:0.0:1.0:0.0	.	430	Q8TET4	GANC_HUMAN	H	430	ENSP00000326227:R430H	ENSP00000326227:R430H	R	+	2	0	GANC	40401506	1.000000	0.71417	0.988000	0.46212	0.838000	0.47535	9.633000	0.98432	2.532000	0.85374	0.561000	0.74099	CGT		0.423	GANC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252887.2	NM_198141		3	40	0	0	0	1	0	3	40				
ZBTB16	7704	broad.mit.edu	37	11	114112981	114112981	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr11:114112981C>T	ENST00000335953.4	+	5	1926	c.1546C>T	c.(1546-1548)Cgc>Tgc	p.R516C	ZBTB16_ENST00000392996.2_Missense_Mutation_p.R516C|ZBTB16_ENST00000535379.1_3'UTR|RP11-64D24.2_ENST00000544925.1_RNA	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	516					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|cartilage development (GO:0051216)|central nervous system development (GO:0007417)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic pattern specification (GO:0009880)|forelimb morphogenesis (GO:0035136)|hemopoiesis (GO:0030097)|male germ-line stem cell asymmetric division (GO:0048133)|mesonephros development (GO:0001823)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of ossification (GO:0045778)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear body (GO:0016604)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		CGCGGGCGTGCGCAGCTACAT	0.627																																						ENST00000335953.4																			0				central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6						c.(1546-1548)Cgc>Tgc		zinc finger and BTB domain containing 16							70.0	54.0	59.0					11																	114112981		2201	4296	6497	SO:0001583	missense	7704				apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding	g.chr11:114112981C>T	Z19002	CCDS8367.1	11q23	2013-10-17	2004-07-16	2004-07-16	ENSG00000109906	ENSG00000109906		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12930	protein-coding gene	gene with protein product	"""promyelocytic leukaemia zinc finger"""	176797	"""zinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia)"""	ZNF145			Standard	XM_006718899		Approved	PLZF	uc001poq.3	Q05516	OTTHUMG00000168243	ENST00000335953.4:c.1546C>T	11.37:g.114112981C>T	ENSP00000338157:p.Arg516Cys					RP11-64D24.2_ENST00000544925.1_RNA|ZBTB16_ENST00000535379.1_3'UTR|ZBTB16_ENST00000392996.2_Missense_Mutation_p.R516C	p.R516C	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)	5	1926	+		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)	516					Q8TAL4	Missense_Mutation	SNP	ENST00000335953.4	37	c.1546C>T	CCDS8367.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.357596	0.82243	.	.	ENSG00000109906	ENST00000335953;ENST00000392996;ENST00000310883	T;T	0.17854	2.25;2.25	5.65	3.71	0.42584	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.122186	0.56097	D	0.000025	T	0.45418	0.1341	M	0.92691	3.335	0.58432	D	0.999996	D	0.76494	0.999	P	0.58077	0.832	T	0.60146	-0.7320	10	0.87932	D	0	-19.0781	13.7474	0.62883	0.4046:0.5954:0.0:0.0	.	516	Q05516	ZBT16_HUMAN	C	516;516;393	ENSP00000338157:R516C;ENSP00000376721:R516C	ENSP00000309507:R393C	R	+	1	0	ZBTB16	113618191	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.769000	0.62300	0.790000	0.33803	0.655000	0.94253	CGC		0.627	ZBTB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398940.1	NM_006006		27	59	0	0	0	1	0	27	59				
MLLT3	4300	broad.mit.edu	37	9	20414280	20414280	+	Silent	SNP	G	G	A			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr9:20414280G>A	ENST00000380338.4	-	5	850	c.564C>T	c.(562-564)agC>agT	p.S188S	MLLT3_ENST00000429426.2_Silent_p.S185S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	188	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S188S(1)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		TGGTActactgctgctgctgc	0.502			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		1	Substitution - coding silent(1)	p.S188S(1)	large_intestine(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(562-564)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							77.0	84.0	82.0					9																	20414280		2203	4300	6503	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414280G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.564C>T	9.37:g.20414280G>A						MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S185S|MLLT3_ENST00000475957.1_5'UTR	p.S188S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	850	-			188			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.564C>T	CCDS6494.1																																																																																				0.502	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		8	287	0	0	0	1	0	8	287				
SMARCA4	6597	broad.mit.edu	37	19	11141553	11141553	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr19:11141553A>G	ENST00000429416.3	+	26	3811	c.3530A>G	c.(3529-3531)gAc>gGc	p.D1177G	SMARCA4_ENST00000589677.1_Missense_Mutation_p.D1177G|SMARCA4_ENST00000541122.2_Missense_Mutation_p.D1177G|SMARCA4_ENST00000358026.2_Missense_Mutation_p.D1177G|SMARCA4_ENST00000444061.3_Missense_Mutation_p.D1177G|SMARCA4_ENST00000413806.3_Missense_Mutation_p.D1177G|SMARCA4_ENST00000344626.4_Missense_Mutation_p.D1177G|SMARCA4_ENST00000590574.1_Missense_Mutation_p.D1177G|SMARCA4_ENST00000450717.3_Missense_Mutation_p.D1177G	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1177	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TTTGACAGCGACTGGAATCCT	0.627			"""F, N, Mis"""		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"""F, N, Mis"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(3529-3531)gAc>gGc		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							22.0	23.0	22.0					19																	11141553		2200	4298	6498	SO:0001583	missense	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11141553A>G	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.3530A>G	19.37:g.11141553A>G	ENSP00000395654:p.Asp1177Gly					SMARCA4_ENST00000590574.1_Missense_Mutation_p.D1177G|SMARCA4_ENST00000589677.1_Missense_Mutation_p.D1177G|SMARCA4_ENST00000450717.3_Missense_Mutation_p.D1177G|SMARCA4_ENST00000444061.3_Missense_Mutation_p.D1177G|SMARCA4_ENST00000413806.3_Missense_Mutation_p.D1177G|SMARCA4_ENST00000344626.4_Missense_Mutation_p.D1177G|SMARCA4_ENST00000429416.3_Missense_Mutation_p.D1177G|SMARCA4_ENST00000541122.2_Missense_Mutation_p.D1177G	p.D1177G	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			25	3814	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1177			Helicase C-terminal.		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.3530A>G	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.422672	0.83559	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	T;T;T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06;-1.06;-1.06	4.59	4.59	0.56863	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.91492	0.7314	H	0.96691	3.865	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.93858	0.7151	10	0.87932	D	0	-53.5852	13.0831	0.59125	1.0:0.0:0.0:0.0	.	1177;1177;1177;1177;1177;397;1177;1177	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;A7E2E1;P51532	.;.;.;.;.;.;.;SMCA4_HUMAN	G	1177;1177;1241;1177;1177;1177;1177;1177	ENSP00000395654:D1177G;ENSP00000350720:D1177G;ENSP00000343896:D1177G;ENSP00000445036:D1177G;ENSP00000392837:D1177G;ENSP00000397783:D1177G;ENSP00000414727:D1177G	ENSP00000343896:D1177G	D	+	2	0	SMARCA4	11002553	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.856000	0.92245	1.935000	0.56089	0.460000	0.39030	GAC		0.627	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		5	26	0	0	0	1	0	5	26				
DLG5	9231	broad.mit.edu	37	10	79555866	79555866	+	Missense_Mutation	SNP	G	G	T			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr10:79555866G>T	ENST00000372391.2	-	29	5394	c.5389C>A	c.(5389-5391)Cat>Aat	p.H1797N	RP13-39P12.3_ENST00000434097.2_RNA|DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Missense_Mutation_p.H1457N	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1797	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			ACATCGAAATGGCCGCTTCTC	0.522																																						ENST00000372391.2																			0				breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(5389-5391)Cat>Aat		discs, large homolog 5 (Drosophila)							152.0	138.0	143.0					10																	79555866		2203	4300	6503	SO:0001583	missense	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79555866G>T	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.5389C>A	10.37:g.79555866G>T	ENSP00000361467:p.His1797Asn					DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Missense_Mutation_p.H1457N	p.H1797N	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		29	5394	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		1797			Guanylate kinase-like.		A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	37	c.5389C>A	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	G	25.3	4.626856	0.87560	.	.	ENSG00000151208	ENST00000372391;ENST00000424842;ENST00000372388	T;T;T	0.13657	2.57;2.57;2.57	5.76	5.76	0.90799	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.000000	0.40064	N	0.001188	T	0.22898	0.0553	L	0.27053	0.805	0.53005	D	0.999969	D;P	0.61697	0.99;0.952	D;D	0.74348	0.983;0.931	T	0.01156	-1.1434	10	0.02654	T	1	.	20.0349	0.97554	0.0:0.0:1.0:0.0	.	1797;1457	Q8TDM6;Q8TDM6-2	DLG5_HUMAN;.	N	1797;758;1457	ENSP00000361467:H1797N;ENSP00000394797:H758N;ENSP00000361464:H1457N	ENSP00000361464:H1457N	H	-	1	0	DLG5	79225872	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	9.472000	0.97709	2.744000	0.94065	0.650000	0.86243	CAT		0.522	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			6	260	1	0	0.00198382	1	0.00203469	6	260				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			71	140	0	0	0	1	0	71	140				
ELP4	26610	broad.mit.edu	37	11	31561248	31561248	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr11:31561248A>G	ENST00000350638.5	+	3	334	c.299A>G	c.(298-300)aAg>aGg	p.K100R	ELP4_ENST00000395934.2_Missense_Mutation_p.K100R|ELP4_ENST00000379163.5_Missense_Mutation_p.K100R	NM_019040.3	NP_061913.3	Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	100					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					TTGCTCTTCAAGTATTTCCTG	0.348																																						ENST00000395934.2																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20						c.(298-300)aAg>aGg		elongator acetyltransferase complex subunit 4							192.0	158.0	169.0					11																	31561248		1826	4080	5906	SO:0001583	missense	26610				histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding	g.chr11:31561248A>G	AJ276005	CCDS7875.2, CCDS73271.1, CCDS73272.1	11p13	2012-08-14	2012-08-08	2002-05-24	ENSG00000109911	ENSG00000109911		"""Elongator acetyltransferase complex subunits"""	1171	protein-coding gene	gene with protein product		606985	"""chromosome 11 open reading frame 19"", ""elongation protein 4 homolog (S. cerevisiae)"""	C11orf19		11889558, 11435442	Standard	XM_005252865		Approved	PAXNEB	uc001mtb.3	Q96EB1	OTTHUMG00000142919	ENST00000350638.5:c.299A>G	11.37:g.31561248A>G	ENSP00000298937:p.Lys100Arg					ELP4_ENST00000379163.5_Missense_Mutation_p.K100R|ELP4_ENST00000350638.5_Missense_Mutation_p.K100R	p.K100R			Q96EB1	ELP4_HUMAN			3	306	+	Lung SC(675;0.225)		100					B4E3W0|E7EPZ6|Q9H4E8|Q9NX11	Missense_Mutation	SNP	ENST00000350638.5	37	c.299A>G	CCDS7875.2	.	.	.	.	.	.	.	.	.	.	A	24.0	4.481168	0.84747	.	.	ENSG00000109911	ENST00000350638;ENST00000379163;ENST00000395934	T;T;T	0.50001	0.76;0.76;0.76	5.32	5.32	0.75619	.	0.046720	0.85682	D	0.000000	T	0.64125	0.2570	L	0.61036	1.89	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.999	T	0.60063	-0.7336	10	0.21014	T	0.42	-5.7558	15.207	0.73186	1.0:0.0:0.0:0.0	.	100;100;100	B4E3W0;G5E9D4;Q96EB1	.;.;ELP4_HUMAN	R	100	ENSP00000298937:K100R;ENSP00000368461:K100R;ENSP00000379267:K100R	ENSP00000298937:K100R	K	+	2	0	ELP4	31517824	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	7.890000	0.87313	2.124000	0.65301	0.383000	0.25322	AAG		0.348	ELP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286640.1	NM_019040		80	230	0	0	0	1	0	80	230				
MATK	4145	broad.mit.edu	37	19	3784192	3784192	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr19:3784192C>T	ENST00000310132.6	-	5	690	c.292G>A	c.(292-294)Ggg>Agg	p.G98R	MATK_ENST00000395040.2_Missense_Mutation_p.G57R|MATK_ENST00000585778.1_Missense_Mutation_p.G98R|MATK_ENST00000395045.2_Missense_Mutation_p.G99R	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	98	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell proliferation (GO:0008283)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCAGCAGCCCCTCCTGTCCA	0.687																																						ENST00000310132.6																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26						c.(292-294)Ggg>Agg		megakaryocyte-associated tyrosine kinase							47.0	52.0	50.0					19																	3784192		2203	4300	6503	SO:0001583	missense	4145				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:3784192C>T	L18974	CCDS12113.1, CCDS12114.1, CCDS42468.1	19p13.3	2013-02-14						"""SH2 domain containing"""	6906	protein-coding gene	gene with protein product	"""Csk-homologous kinase"", ""tyrosine-protein kinase CTK"", ""protein kinase HYL"", ""hematopoietic consensus tyrosine-lacking kinase"", ""tyrosylprotein kinase"", ""hydroxyaryl-protein kinase"", ""Csk-type protein tyrosine kinase"", ""HYL tyrosine kinase"", ""tyrosine kinase MATK"", ""leukocyte carboxyl-terminal src kinase related"""	600038				8288563, 7530249	Standard	NM_139355		Approved	HYLTK, CTK, HYL, Lsk, CHK, HHYLTK, DKFZp434N1212, MGC1708, MGC2101	uc002lyt.3	P42679		ENST00000310132.6:c.292G>A	19.37:g.3784192C>T	ENSP00000308734:p.Gly98Arg					MATK_ENST00000395040.2_Missense_Mutation_p.G57R|MATK_ENST00000395045.2_Missense_Mutation_p.G99R|MATK_ENST00000585778.1_Missense_Mutation_p.G98R	p.G98R	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	5	690	-		Hepatocellular(1079;0.137)	98			SH3.		B3KNZ9|Q9NST8	Missense_Mutation	SNP	ENST00000310132.6	37	c.292G>A	CCDS12114.1	.	.	.	.	.	.	.	.	.	.	c	20.8	4.044687	0.75732	.	.	ENSG00000007264	ENST00000395045;ENST00000310132;ENST00000395040	D;D;D	0.88201	-2.35;-2.35;-2.35	4.25	3.21	0.36854	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	D	0.95733	0.8612	H	0.96333	3.805	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95702	0.8750	10	0.87932	D	0	-36.7412	11.2578	0.49065	0.0:0.909:0.0:0.091	.	98;99;98	F1T0G6;B3KNZ9;P42679	.;.;MATK_HUMAN	R	99;98;57	ENSP00000378485:G99R;ENSP00000308734:G98R;ENSP00000378481:G57R	ENSP00000308734:G98R	G	-	1	0	MATK	3735192	1.000000	0.71417	1.000000	0.80357	0.580000	0.36256	7.043000	0.76572	0.894000	0.36317	0.306000	0.20318	GGG		0.687	MATK-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453639.1	NM_139355		5	147	0	0	0	1	0	5	147				
RFX4	5992	broad.mit.edu	37	12	107144431	107144431	+	Splice_Site	SNP	A	A	G			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr12:107144431A>G	ENST00000392842.1	+	17	2210		c.e17-1		RFX4_ENST00000229387.5_Splice_Site|RFX4_ENST00000357881.4_Splice_Site|RP11-144F15.1_ENST00000551505.1_Intron	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)						cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|dorsal spinal cord development (GO:0021516)|midbrain development (GO:0030901)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein processing (GO:0070613)|telencephalon development (GO:0021537)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						GATGCATTTTAGATACACGGG	0.423																																						ENST00000392842.1																			0				NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						c.e17-1		regulatory factor X, 4 (influences HLA class II expression)							238.0	239.0	239.0					12																	107144431		2203	4300	6503	SO:0001630	splice_region_variant	5992				transcription, DNA-dependent	nucleus	DNA binding	g.chr12:107144431A>G	AB044245	CCDS9106.1, CCDS9108.1, CCDS55880.1	12q24	2008-08-05			ENSG00000111783	ENSG00000111783			9985	protein-coding gene	gene with protein product		603958				8600444, 11682486	Standard	NM_213594		Approved		uc001tlt.3	Q33E94	OTTHUMG00000169173	ENST00000392842.1:c.1797-1A>G	12.37:g.107144431A>G						RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Splice_Site|RFX4_ENST00000229387.5_Splice_Site		NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN			17	2210	+								A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Splice_Site	SNP	ENST00000392842.1	37		CCDS9106.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.348344	0.82132	.	.	ENSG00000111783	ENST00000392842;ENST00000357881;ENST00000229387	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.742	0.77905	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RFX4	105668561	1.000000	0.71417	0.967000	0.41034	0.895000	0.52256	8.923000	0.92808	2.137000	0.66172	0.533000	0.62120	.		0.423	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402707.1	NM_032491	Intron	6	591	0	0	0	1	0	6	591				
SEC23B	10483	broad.mit.edu	37	20	18529342	18529342	+	Silent	SNP	G	G	A			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr20:18529342G>A	ENST00000336714.3	+	16	2265	c.1833G>A	c.(1831-1833)cgG>cgA	p.R611R	AL121893.1_ENST00000578930.1_RNA|SEC23B_ENST00000262544.2_Silent_p.R611R|SEC23B_ENST00000377465.1_Silent_p.R611R|SEC23B_ENST00000377475.3_Silent_p.R611R	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	611					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						ATTTTGCCCGGCAGGACCTGA	0.463																																						ENST00000336714.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						c.(1831-1833)cgG>cgA		Sec23 homolog B (S. cerevisiae)							142.0	118.0	126.0					20																	18529342		2203	4300	6503	SO:0001819	synonymous_variant	10483				ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding	g.chr20:18529342G>A	X97065	CCDS13137.1	20p11.23	2010-02-09	2001-11-28		ENSG00000101310	ENSG00000101310			10702	protein-coding gene	gene with protein product		610512	"""Sec23 (S. cerevisiae) homolog B"", ""congenital dyserythropoietic anemia, type II"""	CDAN2		8898360, 10329445, 19621418	Standard	NM_032985		Approved	CDA-II, CDAII, HEMPAS	uc002wrb.2	Q15437	OTTHUMG00000031976	ENST00000336714.3:c.1833G>A	20.37:g.18529342G>A						SEC23B_ENST00000262544.2_Silent_p.R611R|SEC23B_ENST00000377465.1_Silent_p.R611R|SEC23B_ENST00000377475.3_Silent_p.R611R	p.R611R	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN			16	2265	+			611					D3DW33|Q503A9|Q5W183|Q9BS15|Q9BSI2|Q9H1D7	Silent	SNP	ENST00000336714.3	37	c.1833G>A	CCDS13137.1																																																																																				0.463	SEC23B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078184.5			5	148	0	0	0	1	0	5	148				
ACSS2	55902	broad.mit.edu	37	20	33501271	33501271	+	Missense_Mutation	SNP	C	C	T	rs112012777	byFrequency	TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr20:33501271C>T	ENST00000360596.2	+	4	753	c.542C>T	c.(541-543)gCc>gTc	p.A181V	ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000253382.5_Missense_Mutation_p.A181V|ACSS2_ENST00000336325.4_Missense_Mutation_p.A131V	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	181					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|lipid biosynthetic process (GO:0008610)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CTGGCATGTGCCCGCATTGGG	0.572																																						ENST00000360596.2																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21						c.(541-543)gCc>gTc		acyl-CoA synthetase short-chain family member 2	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	C	VAL/ALA,VAL/ALA,VAL/ALA	4,4402	8.1+/-20.4	0,4,2199	97.0	95.0	95.0		542,257,542	4.3	1.0	20	dbSNP_132	95	13,8587	9.8+/-36.6	0,13,4287	yes	missense,missense,missense	ACSS2	NM_001076552.2,NM_001242393.1,NM_018677.3	64,64,64	0,17,6486	TT,TC,CC		0.1512,0.0908,0.1307	possibly-damaging,possibly-damaging,possibly-damaging	181/715,86/607,181/702	33501271	17,12989	2203	4300	6503	SO:0001583	missense	55902				ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding	g.chr20:33501271C>T	AF263614	CCDS13243.1, CCDS42868.1, CCDS42868.2	20q11.22	2012-07-13	2005-09-08	2005-09-08	ENSG00000131069	ENSG00000131069	6.2.1.1	"""Acyl-CoA synthetase family"""	15814	protein-coding gene	gene with protein product		605832	"""acetyl-Coenzyme A synthetase 2 (ADP forming)"""	ACAS2		10843999	Standard	NM_018677		Approved	ACS, ACSA, AceCS, dJ1161H23.1	uc010gey.2	Q9NR19	OTTHUMG00000032317	ENST00000360596.2:c.542C>T	20.37:g.33501271C>T	ENSP00000353804:p.Ala181Val					ACSS2_ENST00000336325.4_Missense_Mutation_p.A131V|ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000253382.5_Missense_Mutation_p.A181V	p.A181V	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN			4	753	+			181					A6NE90|Q5QPH2|Q5QPH3|Q8N238|Q96EL0|Q9NQP7|Q9UJ15	Missense_Mutation	SNP	ENST00000360596.2	37	c.542C>T	CCDS13243.1	.	.	.	.	.	.	.	.	.	.	C	19.92	3.917224	0.73098	9.08E-4	0.001512	ENSG00000131069	ENST00000488172;ENST00000336325;ENST00000360596;ENST00000374693;ENST00000473172;ENST00000253382	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0	5.23	4.29	0.51040	AMP-dependent synthetase/ligase (1);	0.158483	0.56097	N	0.000029	T	0.61763	0.2373	M	0.83852	2.665	0.80722	D	1	P;P	0.35944	0.529;0.529	P;P	0.50934	0.654;0.654	T	0.67373	-0.5687	10	0.72032	D	0.01	-9.6759	13.9659	0.64209	0.0:0.9273:0.0:0.0727	.	181;181	Q5QPH3;Q9NR19	.;ACSA_HUMAN	V	131;131;181;181;194;181	ENSP00000417783:A131V;ENSP00000337190:A131V;ENSP00000353804:A181V;ENSP00000419925:A194V;ENSP00000253382:A181V	ENSP00000253382:A181V	A	+	2	0	ACSS2	32964932	0.994000	0.37717	0.997000	0.53966	0.978000	0.69477	1.984000	0.40658	1.441000	0.47550	-0.140000	0.14226	GCC		0.572	ACSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078823.3	NM_018677		4	187	0	0	0	1	0	4	187				
CIC	23152	broad.mit.edu	37	19	42791828	42791828	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr19:42791828G>A	ENST00000575354.2	+	5	754	c.714G>A	c.(712-714)tgG>tgA	p.W238*	CIC_ENST00000160740.3_Nonsense_Mutation_p.W238*|CIC_ENST00000572681.2_Nonsense_Mutation_p.W1147*	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	238					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GCGAGTGGTGGTATGCCCTGG	0.617			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(3439-3441)tgG>tgA		capicua transcriptional repressor							82.0	75.0	77.0					19																	42791828		2203	4300	6503	SO:0001587	stop_gained	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791828G>A	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.714G>A	19.37:g.42791828G>A	ENSP00000458663:p.Trp238*					CIC_ENST00000160740.3_Nonsense_Mutation_p.W238*|CIC_ENST00000575354.2_Nonsense_Mutation_p.W238*	p.W1147*			Q96RK0	CIC_HUMAN			6	3509	+		Prostate(69;0.00682)	238			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Nonsense_Mutation	SNP	ENST00000575354.2	37	c.3441G>A	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	G	41	8.802137	0.98960	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	4.39	0.52855	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-8.5755	14.5138	0.67807	0.0:0.0:1.0:0.0	.	.	.	.	X	238	.	ENSP00000160740:W238X	W	+	3	0	CIC	47483668	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.261000	0.95576	2.284000	0.76573	0.555000	0.69702	TGG		0.617	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			9	86	0	0	0	1	0	9	86				
ZNF831	128611	broad.mit.edu	37	20	57782005	57782005	+	Silent	SNP	T	T	C			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr20:57782005T>C	ENST00000371030.2	+	3	3921	c.3921T>C	c.(3919-3921)agT>agC	p.S1307S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1307							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TGAGAGCCAGTAGACTTCGCA	0.552																																						ENST00000371030.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(3919-3921)agT>agC		zinc finger protein 831							116.0	118.0	117.0					20																	57782005		1947	4134	6081	SO:0001819	synonymous_variant	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57782005T>C	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.3921T>C	20.37:g.57782005T>C							p.S1307S	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			3	3921	+	all_lung(29;0.0085)		1307					Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	37	c.3921T>C	CCDS42894.1																																																																																				0.552	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		14	417	0	0	0	1	0	14	417				
LACE1	246269	broad.mit.edu	37	6	108841010	108841010	+	Silent	SNP	C	C	T			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr6:108841010C>T	ENST00000368977.4	+	12	1500	c.1314C>T	c.(1312-1314)agC>agT	p.S438S		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	438						mitochondrion (GO:0005739)	ATP binding (GO:0005524)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		TGGGGCTGAGCCAGGTAGGCG	0.368																																						ENST00000368977.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15						c.(1312-1314)agC>agT		lactation elevated 1							106.0	97.0	100.0					6																	108841010		2203	4300	6503	SO:0001819	synonymous_variant	246269						ATP binding	g.chr6:108841010C>T	AF520418	CCDS5067.1	6q22.1	2006-11-10			ENSG00000135537	ENSG00000135537			16411	protein-coding gene	gene with protein product	"""ATPase family gene 1 homolog (S. cerevisiae)"""					12079282	Standard	XM_005266885		Approved	AFG1	uc003psj.3	Q8WV93	OTTHUMG00000015324	ENST00000368977.4:c.1314C>T	6.37:g.108841010C>T							p.S438S	NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)	12	1500	+		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)	438					Q8N6A3	Silent	SNP	ENST00000368977.4	37	c.1314C>T	CCDS5067.1	.	.	.	.	.	.	.	.	.	.	C	9.521	1.108398	0.20714	.	.	ENSG00000135537	ENST00000421954	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	T	0.56411	0.1983	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55055	-0.8200	4	.	.	.	-9.8804	12.9837	0.58579	0.0:0.9256:0.0:0.0744	.	.	.	.	V	306	.	.	A	+	2	0	LACE1	108947703	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.743000	0.38258	2.757000	0.94681	0.561000	0.74099	GCC		0.368	LACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041719.4	NM_145315		4	161	0	0	0	1	0	4	161				
STRN4	29888	broad.mit.edu	37	19	47228631	47228631	+	Missense_Mutation	SNP	G	G	A	rs556592499		TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr19:47228631G>A	ENST00000263280.6	-	11	1479	c.1430C>T	c.(1429-1431)gCg>gTg	p.A477V	STRN4_ENST00000539396.1_Missense_Mutation_p.A358V|STRN4_ENST00000594357.2_5'UTR|STRN4_ENST00000391910.3_Missense_Mutation_p.A484V	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	477						cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		ATCTAGCGCCGCATTCCTGTG	0.597													G|||	1	0.000199681	0.0008	0.0	5008	,	,		12872	0.0		0.0	False		,,,				2504	0.0					ENST00000391910.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1450-1452)gCg>gTg		striatin, calmodulin binding protein 4							177.0	166.0	170.0					19																	47228631		2203	4300	6503	SO:0001583	missense	29888					cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding	g.chr19:47228631G>A	AF212940	CCDS12690.1, CCDS42581.1	19q13.32	2013-01-10			ENSG00000090372	ENSG00000090372		"""WD repeat domain containing"""	15721	protein-coding gene	gene with protein product		614767				10748158	Standard	XM_006723171		Approved	zinedin, ZIN	uc002pfm.3	Q9NRL3		ENST00000263280.6:c.1430C>T	19.37:g.47228631G>A	ENSP00000263280:p.Ala477Val					STRN4_ENST00000594357.2_5'UTR|STRN4_ENST00000263280.6_Missense_Mutation_p.A477V|STRN4_ENST00000539396.1_Missense_Mutation_p.A358V	p.A484V			Q9NRL3	STRN4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)	11	1901	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	477					A0A024R0V2|B4DQH7|F8VYA6|Q8NE53	Missense_Mutation	SNP	ENST00000263280.6	37	c.1451C>T	CCDS12690.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.282257	0.80692	.	.	ENSG00000090372	ENST00000391910;ENST00000263280;ENST00000539396	T;T;T	0.67345	-0.26;-0.25;-0.11	4.73	4.73	0.59995	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.65450	0.2692	L	0.38175	1.15	0.80722	D	1	P;B	0.48694	0.914;0.414	P;B	0.48089	0.566;0.093	T	0.69978	-0.4998	10	0.62326	D	0.03	-4.6373	16.6323	0.85037	0.0:0.0:1.0:0.0	.	484;477	F8VYA6;Q9NRL3	.;STRN4_HUMAN	V	484;477;358	ENSP00000375777:A484V;ENSP00000263280:A477V;ENSP00000440901:A358V	ENSP00000263280:A477V	A	-	2	0	STRN4	51920471	1.000000	0.71417	0.685000	0.30070	0.465000	0.32709	6.984000	0.76186	2.456000	0.83038	0.561000	0.74099	GCG		0.597	STRN4-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466607.2			5	199	0	0	0	1	0	5	199				
GRK4	2868	broad.mit.edu	37	4	3015524	3015524	+	Missense_Mutation	SNP	G	G	T	rs199873516		TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr4:3015524G>T	ENST00000398052.4	+	8	1053	c.710G>T	c.(709-711)aGa>aTa	p.R237I	GRK4_ENST00000345167.6_Missense_Mutation_p.R205I|GRK4_ENST00000398051.4_Missense_Mutation_p.R205I|GRK4_ENST00000504933.1_Missense_Mutation_p.R237I	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	237	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G-protein coupled receptor internalization (GO:0002031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AATGAGAAAAGAATTCTGGAG	0.398													G|||	1	0.000199681	0.0	0.0	5008	,	,		21105	0.001		0.0	False		,,,				2504	0.0					ENST00000398052.4																			0				lung(1)|upper_aerodigestive_tract(1)	2						c.(709-711)aGa>aTa		G protein-coupled receptor kinase 4							131.0	117.0	121.0					4																	3015524		2203	4300	6503	SO:0001583	missense	2868					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr4:3015524G>T		CCDS33946.1, CCDS33947.1, CCDS47002.1, CCDS68656.1	4p16.3	2008-02-05	2004-02-04	2004-02-06	ENSG00000125388	ENSG00000125388			4543	protein-coding gene	gene with protein product		137026	"""G protein-coupled receptor kinase 2-like (Drosophila)"""	GPRK2L		1338872	Standard	NM_182982		Approved	GPRK4	uc003ggn.1	P32298	OTTHUMG00000159914	ENST00000398052.4:c.710G>T	4.37:g.3015524G>T	ENSP00000381129:p.Arg237Ile					GRK4_ENST00000345167.6_Missense_Mutation_p.R205I|GRK4_ENST00000398051.4_Missense_Mutation_p.R205I|GRK4_ENST00000504933.1_Missense_Mutation_p.R237I	p.R237I	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	8	1053	+			237			Protein kinase.		O00641|O00642|Q13293|Q13294|Q13295|Q14453|Q14725|Q15313|Q15314|Q15315|Q15316|Q17RH6|Q53EQ8	Missense_Mutation	SNP	ENST00000398052.4	37	c.710G>T	CCDS33946.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	11.51	1.660254	0.29515	.	.	ENSG00000125388	ENST00000398051;ENST00000398052;ENST00000345167;ENST00000504933	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	4.76	1.88	0.25563	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.065056	0.64402	U	0.000010	T	0.54791	0.1880	L	0.37897	1.145	0.80722	D	1	D;B;B;D	0.56287	0.969;0.09;0.162;0.975	B;B;B;P	0.47470	0.413;0.06;0.076;0.548	T	0.49588	-0.8924	10	0.46703	T	0.11	-2.071	3.8341	0.08886	0.2818:0.0:0.5515:0.1667	.	205;205;237;237	P32298-3;P32298-2;P32298-4;P32298	.;.;.;GRK4_HUMAN	I	205;237;205;237	ENSP00000381128:R205I;ENSP00000381129:R237I;ENSP00000264764:R205I;ENSP00000427445:R237I	ENSP00000264764:R205I	R	+	2	0	GRK4	2985322	0.549000	0.26481	0.005000	0.12908	0.017000	0.09413	1.139000	0.31504	0.043000	0.15746	-0.142000	0.14014	AGA		0.398	GRK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358176.2	NM_005307		15	192	1	0	1.49906e-05	1	1.57796e-05	15	192				
CDH26	60437	broad.mit.edu	37	20	58571755	58571755	+	Missense_Mutation	SNP	A	A	G	rs373321905		TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr20:58571755A>G	ENST00000244047.5	+	13	2269	c.1958A>G	c.(1957-1959)aAt>aGt	p.N653S	CDH26_ENST00000348616.4_Missense_Mutation_p.N653S|CDH26_ENST00000497614.1_3'UTR|CDH26_ENST00000350849.6_Intron|CDH26_ENST00000244049.3_Intron			Q8IXH8	CAD26_HUMAN	cadherin 26	653					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			TCTGTATCCAATGATGAAGGC	0.438																																						ENST00000348616.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44						c.(1957-1959)aAt>aGt		cadherin 26		A	,SER/ASN	1,4405	2.1+/-5.4	0,1,2202	239.0	215.0	223.0		,1958	-8.4	0.0	20		223	0,8600		0,0,4300	no	intron,missense	CDH26	NM_021810.4,NM_177980.2	,46	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	,benign	,653/833	58571755	1,13005	2203	4300	6503	SO:0001583	missense	60437				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:58571755A>G	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"""Cadherins / Major cadherins"""	15902	protein-coding gene	gene with protein product			"""cadherin-like 26"""				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.1958A>G	20.37:g.58571755A>G	ENSP00000244047:p.Asn653Ser					CDH26_ENST00000244049.3_Intron|CDH26_ENST00000497614.1_3'UTR|CDH26_ENST00000350849.6_Intron|CDH26_ENST00000244047.5_Missense_Mutation_p.N653S	p.N653S	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		13	2258	+	all_lung(29;0.00963)		653					A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Missense_Mutation	SNP	ENST00000244047.5	37	c.1958A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.810|8.810	0.934972|0.934972	0.18206|0.18206	2.27E-4|2.27E-4	0.0|0.0	ENSG00000124215|ENSG00000124215	ENST00000370991|ENST00000244047;ENST00000348616	.|T;T	.|0.57436	.|0.4;0.59	4.19|4.19	-8.38|-8.38	0.00973|0.00973	.|.	.|1.699270	.|0.02850	.|N	.|0.129048	T|T	0.23572|0.23572	0.0570|0.0570	N|N	0.03154|0.03154	-0.405|-0.405	0.09310|0.09310	N|N	1|1	.|B;B	.|0.16396	.|0.008;0.017	.|B;B	.|0.18263	.|0.003;0.021	T|T	0.14587|0.14587	-1.0467|-1.0467	5|10	.|0.42905	.|T	.|0.14	.|.	3.8557|3.8557	0.08974|0.08974	0.6162:0.1187:0.1462:0.1189|0.6162:0.1187:0.1462:0.1189	.|.	.|653;653	.|Q8IXH8;Q8IXH8-4	.|CAD26_HUMAN;.	V|S	245|653	.|ENSP00000244047:N653S;ENSP00000339390:N653S	.|ENSP00000244047:N653S	M|N	+|+	1|2	0|0	CDH26|CDH26	58005150|58005150	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	-0.952000|-0.952000	0.03881|0.03881	-1.511000|-1.511000	0.01794|0.01794	-0.177000|-0.177000	0.13119|0.13119	ATG|AAT		0.438	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		16	409	0	0	0	1	0	16	409				
GRAMD2	196996	broad.mit.edu	37	15	72460091	72460091	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr15:72460091C>T	ENST00000309731.7	-	5	371	c.358G>A	c.(358-360)Ggc>Agc	p.G120S	GRAMD2_ENST00000564184.1_5'Flank	NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	120	GRAM.					integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						ATATCCTTGCCAAAGAGGCTG	0.587																																						ENST00000309731.7																			0				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						c.(358-360)Ggc>Agc		GRAM domain containing 2							84.0	77.0	80.0					15																	72460091		2199	4297	6496	SO:0001583	missense	196996					integral to membrane		g.chr15:72460091C>T	AK002016	CCDS32283.1	15q23	2006-11-29	2005-11-03	2005-11-03					27287	protein-coding gene	gene with protein product						12477932	Standard	NM_001012642		Approved		uc002atq.3	Q8IUY3		ENST00000309731.7:c.358G>A	15.37:g.72460091C>T	ENSP00000311657:p.Gly120Ser						p.G120S	NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN			5	371	-			120			GRAM.		B3KT68	Missense_Mutation	SNP	ENST00000309731.7	37	c.358G>A	CCDS32283.1	.	.	.	.	.	.	.	.	.	.	C	34	5.375137	0.95923	.	.	ENSG00000175318	ENST00000309731	D	0.88431	-2.38	5.0	5.0	0.66597	GRAM (2);	0.000000	0.85682	D	0.000000	D	0.94338	0.8180	M	0.80508	2.5	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94227	0.7473	10	0.51188	T	0.08	.	16.2619	0.82550	0.0:1.0:0.0:0.0	.	120	Q8IUY3	GRAM2_HUMAN	S	120	ENSP00000311657:G120S	ENSP00000311657:G120S	G	-	1	0	GRAMD2	70247145	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.888000	0.63164	2.596000	0.87737	0.561000	0.74099	GGC		0.587	GRAMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420040.1	NM_001012642		5	159	0	0	0	1	0	5	159				
DLGAP4	22839	broad.mit.edu	37	20	35060261	35060261	+	Silent	SNP	C	C	A	rs546937541	byFrequency	TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr20:35060261C>A	ENST00000373907.2	+	2	340	c.141C>A	c.(139-141)ccC>ccA	p.P47P	DLGAP4_ENST00000339266.5_Silent_p.P47P|DLGAP4_ENST00000401952.2_Silent_p.P47P|DLGAP4_ENST00000373913.3_Silent_p.P47P			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	47					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CCCGCTTCCCCGGGCAGAACA	0.672																																						ENST00000373913.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37						c.(139-141)ccC>ccA		discs, large (Drosophila) homolog-associated protein 4							38.0	42.0	41.0					20																	35060261		2203	4300	6503	SO:0001819	synonymous_variant	22839				cell-cell signaling	membrane	protein binding	g.chr20:35060261C>A	AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.141C>A	20.37:g.35060261C>A						DLGAP4_ENST00000401952.2_Silent_p.P47P|DLGAP4_ENST00000339266.5_Silent_p.P47P|DLGAP4_ENST00000373907.2_Silent_p.P47P	p.P47P			Q9Y2H0	DLGP4_HUMAN			3	621	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	47					E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Silent	SNP	ENST00000373907.2	37	c.141C>A																																																																																					0.672	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	NM_014902		48	68	1	0	2.84425e-11	1	3.07486e-11	48	68				
EIF4A1	1973	broad.mit.edu	37	17	7480734	7480734	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr17:7480734C>T	ENST00000293831.8	+	7	713	c.697C>T	c.(697-699)Cgg>Tgg	p.R233W	EIF4A1_ENST00000577269.1_Missense_Mutation_p.R233W|SENP3-EIF4A1_ENST00000579777.1_RNA|CD68_ENST00000380498.6_5'Flank|SNORD10_ENST00000459579.1_RNA|CD68_ENST00000250092.6_5'Flank|SNORA48_ENST00000386847.1_RNA|EIF4A1_ENST00000582746.1_Missense_Mutation_p.R233W|SNORA67_ENST00000384423.1_RNA	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	233	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						GGACCCCATTCGGATTCTTGT	0.532																																					Melanoma(120;278 1668 15796 27423 46368)	ENST00000293831.8																			0				NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						c.(697-699)Cgg>Tgg		eukaryotic translation initiation factor 4A1							68.0	70.0	69.0					17																	7480734		2203	4298	6501	SO:0001583	missense	1973				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity	g.chr17:7480734C>T	D13748	CCDS11113.1, CCDS58511.1	17p13	2012-02-23	2010-02-10		ENSG00000161960	ENSG00000161960		"""DEAD-boxes"""	3282	protein-coding gene	gene with protein product		602641	"""eukaryotic translation initiation factor 4A, isoform 1"""	EIF4A		8493113, 9790779	Standard	NM_001416		Approved	DDX2A, EIF-4A		P60842	OTTHUMG00000108149	ENST00000293831.8:c.697C>T	17.37:g.7480734C>T	ENSP00000293831:p.Arg233Trp					SENP3-EIF4A1_ENST00000579777.1_RNA|EIF4A1_ENST00000577269.1_Missense_Mutation_p.R233W|EIF4A1_ENST00000582746.1_Missense_Mutation_p.R233W	p.R233W	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN			7	713	+			233			Helicase ATP-binding.		B2R6L8|D3DTP9|J3QLC4|P04765|Q5U018|Q61516	Missense_Mutation	SNP	ENST00000293831.8	37	c.697C>T	CCDS11113.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.213888	0.39102	.	.	ENSG00000161960	ENST00000293831;ENST00000396527	T	0.04970	3.52	5.41	3.17	0.36434	DEAD-like helicase (2);	0.055538	0.64402	N	0.000002	T	0.07638	0.0192	M	0.66506	2.035	0.80722	D	1	P;B;P	0.42556	0.493;0.342;0.783	B;B;B	0.28849	0.044;0.044;0.095	T	0.23297	-1.0192	10	0.87932	D	0	-15.5718	13.7138	0.62685	0.3037:0.6963:0.0:0.0	.	233;233;233	A8K7F6;A8K088;P60842	.;.;IF4A1_HUMAN	W	233;56	ENSP00000293831:R233W	ENSP00000293831:R233W	R	+	1	2	EIF4A1	7421458	0.796000	0.28864	1.000000	0.80357	0.999000	0.98932	1.393000	0.34497	1.234000	0.43709	0.591000	0.81541	CGG		0.532	EIF4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226952.6	NM_001416		43	141	0	0	0	1	0	43	141				
METTL20	254013	broad.mit.edu	37	12	31814956	31814956	+	Silent	SNP	C	C	T			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr12:31814956C>T	ENST00000357721.3	+	2	284	c.69C>T	c.(67-69)agC>agT	p.S23S	METTL20_ENST00000538391.1_Silent_p.S23S|METTL20_ENST00000412352.2_Silent_p.S23S|METTL20_ENST00000395763.3_Silent_p.S23S|METTL20_ENST00000538463.1_Silent_p.S23S	NM_001135863.1	NP_001129335.1	Q8IXQ9	MET20_HUMAN	methyltransferase like 20	23						cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)			lung(2)|stomach(1)	3						CTCTGCGAAGCAGTGGTCTTC	0.517																																						ENST00000357721.3																			0				lung(2)|stomach(1)	3						c.(67-69)agC>agT		methyltransferase like 20							147.0	132.0	137.0					12																	31814956		2203	4300	6503	SO:0001819	synonymous_variant	254013					cytoplasm	protein methyltransferase activity	g.chr12:31814956C>T	BC039535	CCDS8724.1	12p11.21	2011-03-03	2011-03-03	2011-03-03	ENSG00000139160	ENSG00000139160			28739	protein-coding gene	gene with protein product		615256	"""chromosome 12 open reading frame 72"""	C12orf72			Standard	NM_173802		Approved	DKFZp451L235, MGC50559	uc001rkm.3	Q8IXQ9		ENST00000357721.3:c.69C>T	12.37:g.31814956C>T						METTL20_ENST00000412352.2_Silent_p.S23S|METTL20_ENST00000395763.3_Silent_p.S23S|METTL20_ENST00000538463.1_Silent_p.S23S|METTL20_ENST00000538391.1_Silent_p.S23S	p.S23S	NM_001135863.1	NP_001129335.1	Q8IXQ9	MET20_HUMAN			2	284	+			23					D3DUW3	Silent	SNP	ENST00000357721.3	37	c.69C>T	CCDS8724.1																																																																																				0.517	METTL20-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402196.1	NM_173802		5	235	0	0	0	1	0	5	235				
SLC26A2	1836	broad.mit.edu	37	5	149359993	149359993	+	Silent	SNP	G	G	A			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr5:149359993G>A	ENST00000286298.4	+	3	1105	c.837G>A	c.(835-837)cgG>cgA	p.R279R		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	279			R -> W (in AO2 and EDM4; dbSNP:rs104893915). {ECO:0000269|PubMed:21922596, ECO:0000269|PubMed:8571951}.		3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|ossification (GO:0001503)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			ACCTTCCTCGGACTAATGGTG	0.463																																						ENST00000286298.4																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18						c.(835-837)cgG>cgA		solute carrier family 26 (anion exchanger), member 2							179.0	162.0	168.0					5																	149359993		2203	4300	6503	SO:0001819	synonymous_variant	1836					integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity	g.chr5:149359993G>A	U14528	CCDS4300.1	5q31-q34	2014-09-17	2013-07-18		ENSG00000155850	ENSG00000155850		"""Solute carriers"""	10994	protein-coding gene	gene with protein product		606718	"""solute carrier family 26 (sulfate transporter), member 2"""	DTD		7923357	Standard	NM_000112		Approved	DTDST	uc003lrh.3	P50443	OTTHUMG00000130054	ENST00000286298.4:c.837G>A	5.37:g.149359993G>A							p.R279R	NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		3	1105	+			279		R -> W (in AO2).			A8K2U3|B2R6J1|Q6N051	Silent	SNP	ENST00000286298.4	37	c.837G>A	CCDS4300.1																																																																																				0.463	SLC26A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252333.2	NM_000112		50	207	0	0	0	1	0	50	207				
ZBTB20	26137	broad.mit.edu	37	3	114070191	114070191	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr3:114070191G>A	ENST00000474710.1	-	4	912	c.734C>T	c.(733-735)tCg>tTg	p.S245L	ZBTB20_ENST00000462705.1_Missense_Mutation_p.S172L|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000481632.1_Missense_Mutation_p.S172L|ZBTB20_ENST00000471418.1_Missense_Mutation_p.S172L|ZBTB20_ENST00000393785.2_Missense_Mutation_p.S172L|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20_ENST00000357258.3_Missense_Mutation_p.S172L|ZBTB20_ENST00000464560.1_Missense_Mutation_p.S172L|ZBTB20-AS1_ENST00000467304.1_RNA	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	245						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 negative regulation of transcription (GO:0001078)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GTAGAGTGCCGAGTAGATCCT	0.672																																					NSCLC(69;748 1344 9802 11203 30933)	ENST00000462705.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(514-516)tCg>tTg		zinc finger and BTB domain containing 20							86.0	77.0	80.0					3																	114070191		2203	4300	6503	SO:0001583	missense	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114070191G>A	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.734C>T	3.37:g.114070191G>A	ENSP00000419153:p.Ser245Leu					ZBTB20_ENST00000464560.1_Missense_Mutation_p.S172L|ZBTB20_ENST00000393785.2_Missense_Mutation_p.S172L|ZBTB20_ENST00000357258.3_Missense_Mutation_p.S172L|ZBTB20_ENST00000471418.1_Missense_Mutation_p.S172L|ZBTB20_ENST00000474710.1_Missense_Mutation_p.S245L|ZBTB20_ENST00000481632.1_Missense_Mutation_p.S172L	p.S172L	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	11	1336	-			245					Q63HP6|Q8N6R5|Q9Y410	Missense_Mutation	SNP	ENST00000474710.1	37	c.515C>T	CCDS54626.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.332922	0.81801	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560	T;T;T;T;T;T;T	0.10668	2.89;2.89;2.89;2.89;2.85;2.89;2.89	5.52	5.52	0.82312	.	0.062557	0.64402	D	0.000003	T	0.07369	0.0186	N	0.24115	0.695	0.80722	D	1	P	0.49253	0.921	B	0.26614	0.071	T	0.19257	-1.0311	10	0.87932	D	0	.	19.6361	0.95733	0.0:0.0:1.0:0.0	.	245	Q9HC78	ZBT20_HUMAN	L	172;172;172;172;245;172;172	ENSP00000420324:S172L;ENSP00000377375:S172L;ENSP00000418092:S172L;ENSP00000419902:S172L;ENSP00000419153:S245L;ENSP00000349803:S172L;ENSP00000417307:S172L	ENSP00000349803:S172L	S	-	2	0	ZBTB20	115552881	1.000000	0.71417	0.989000	0.46669	0.949000	0.60115	9.017000	0.93651	2.878000	0.98634	0.650000	0.86243	TCG		0.672	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		21	126	0	0	0	1	0	21	126				
FAM169B	283777	broad.mit.edu	37	15	98982908	98982908	+	Silent	SNP	G	G	A	rs200050409		TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr15:98982908G>A	ENST00000558256.1	-	7	780	c.531C>T	c.(529-531)gcC>gcT	p.A177A	FAM169B_ENST00000332908.4_Silent_p.A177A	NM_182562.2	NP_872368.2	Q8N8A8	F169B_HUMAN	family with sequence similarity 169, member B	177										large_intestine(3)|lung(3)|urinary_tract(1)	7						CTGCCAGCCCGGCATCCTCCT	0.582																																						ENST00000558256.1																			0				large_intestine(3)|lung(3)|urinary_tract(1)	7						c.(529-531)gcC>gcT		family with sequence similarity 169, member B							80.0	82.0	81.0					15																	98982908		1998	4164	6162	SO:0001819	synonymous_variant	283777							g.chr15:98982908G>A		CCDS45360.1	15q26.3	2008-08-08			ENSG00000185087	ENSG00000185087			26835	protein-coding gene	gene with protein product							Standard	NM_182562		Approved	FLJ39743, KIAA0888L	uc002buk.1	Q8N8A8		ENST00000558256.1:c.531C>T	15.37:g.98982908G>A						FAM169B_ENST00000332908.4_Silent_p.A177A	p.A177A	NM_182562.2	NP_872368.2	Q8N8A8	F169B_HUMAN			7	780	-			177					B5MDL8	Silent	SNP	ENST00000558256.1	37	c.531C>T	CCDS45360.1																																																																																				0.582	FAM169B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415488.1	NM_182562		35	48	0	0	0	1	0	35	48				
DAB2IP	153090	broad.mit.edu	37	9	124528875	124528875	+	Silent	SNP	C	C	G			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr9:124528875C>G	ENST00000408936.3	+	9	1745	c.1563C>G	c.(1561-1563)ctC>ctG	p.L521L	DAB2IP_ENST00000309989.1_Silent_p.L397L|DAB2IP_ENST00000259371.2_Silent_p.L493L			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	521	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						GCGCCTCCCTCTTCCTGCGCT	0.632																																						ENST00000408936.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(1561-1563)ctC>ctG		DAB2 interacting protein							124.0	104.0	111.0					9																	124528875		2203	4300	6503	SO:0001819	synonymous_variant	153090				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity	g.chr9:124528875C>G	AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"""nGAP-like protein"", ""DOC-2/DAB2 interactive protein"", ""ASK-interacting protein"", ""ASK1-interacting protein 1"""	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.1563C>G	9.37:g.124528875C>G						DAB2IP_ENST00000309989.1_Silent_p.L397L|DAB2IP_ENST00000259371.2_Silent_p.L493L	p.L521L			Q5VWQ8	DAB2P_HUMAN			9	1745	+			521			Ras-GAP.		A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Silent	SNP	ENST00000408936.3	37	c.1563C>G																																																																																					0.632	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317857.1	NM_032552		83	118	0	0	0	1	0	83	118				
OR5H14	403273	broad.mit.edu	37	3	97868352	97868352	+	Silent	SNP	G	G	A			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr3:97868352G>A	ENST00000437310.1	+	1	183	c.123G>A	c.(121-123)ggG>ggA	p.G41G	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	41						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						CCATCATGGGGAATCTTGGTC	0.403																																						ENST00000437310.1																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(121-123)ggG>ggA		olfactory receptor, family 5, subfamily H, member 14							234.0	238.0	236.0					3																	97868352		2203	4298	6501	SO:0001819	synonymous_variant	403273				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97868352G>A		CCDS33798.1	3q11.2	2013-09-23			ENSG00000236032	ENSG00000236032		"""GPCR / Class A : Olfactory receptors"""	31286	protein-coding gene	gene with protein product							Standard	NM_001005514		Approved		uc003dsg.1	A6NHG9	OTTHUMG00000160079	ENST00000437310.1:c.123G>A	3.37:g.97868352G>A							p.G41G	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN			1	183	+			41					B9EH15	Silent	SNP	ENST00000437310.1	37	c.123G>A	CCDS33798.1																																																																																				0.403	OR5H14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359112.1			199	361	0	0	0	1	0	199	361				
SNHG14	104472715	broad.mit.edu	37	15	25438381	25438381	+	RNA	SNP	C	C	T			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr15:25438381C>T	ENST00000424208.1	+	0	1240				SNHG14_ENST00000456576.1_RNA|SNORD115-14_ENST00000363090.1_RNA|SNHG14_ENST00000414175.1_RNA|SNORD115-12_ENST00000362583.1_RNA|SNHG14_ENST00000363358.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		TGGGCACTTCCTGGCACCCTG	0.592																																						ENST00000424208.1																			0																																																			0							g.chr15:25438381C>T			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25438381C>T						SNHG14_ENST00000414175.1_RNA		NR_003305.1						0	1240	+									RNA	SNP	ENST00000424208.1	37																																																																																						0.592	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			63	108	0	0	0	1	0	63	108				
ZSWIM3	140831	broad.mit.edu	37	20	44505808	44505808	+	Missense_Mutation	SNP	G	G	T			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr20:44505808G>T	ENST00000255152.2	+	2	820	c.611G>T	c.(610-612)aGc>aTc	p.S204I	ZSWIM3_ENST00000454862.2_Missense_Mutation_p.S198I	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	204							zinc ion binding (GO:0008270)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				GACCGGCTCAGCTTCCAGAGC	0.527																																						ENST00000255152.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35						c.(610-612)aGc>aTc		zinc finger, SWIM-type containing 3							140.0	117.0	125.0					20																	44505808		2203	4300	6503	SO:0001583	missense	140831						zinc ion binding	g.chr20:44505808G>T	AL008726	CCDS13381.1	20q13.12	2014-06-13	2003-12-17	2003-12-19	ENSG00000132801	ENSG00000132801		"""Zinc fingers, SWIM-type"""	16157	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 174"""		"""chromosome 20 open reading frame 164"""	C20orf164			Standard	NM_080752		Approved	dJ337O18.7, PPP1R174	uc002xqd.3	Q96MP5	OTTHUMG00000032627	ENST00000255152.2:c.611G>T	20.37:g.44505808G>T	ENSP00000255152:p.Ser204Ile					ZSWIM3_ENST00000454862.2_Missense_Mutation_p.S198I	p.S204I	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN			2	820	+		Myeloproliferative disorder(115;0.0122)	204					Q9BR13	Missense_Mutation	SNP	ENST00000255152.2	37	c.611G>T	CCDS13381.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.388571	0.61956	.	.	ENSG00000132801	ENST00000255152;ENST00000454862	T;T	0.26373	1.79;1.74	5.49	5.49	0.81192	.	0.060208	0.64402	D	0.000001	T	0.38321	0.1036	L	0.34521	1.04	0.38343	D	0.944119	D;D	0.76494	0.999;0.999	D;D	0.66196	0.942;0.942	T	0.13980	-1.0489	10	0.52906	T	0.07	-25.775	14.8	0.69906	0.0705:0.0:0.9295:0.0	.	198;204	E7ETT6;Q96MP5	.;ZSWM3_HUMAN	I	204;198	ENSP00000255152:S204I;ENSP00000406313:S198I	ENSP00000255152:S204I	S	+	2	0	ZSWIM3	43939215	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.354000	0.44098	2.865000	0.98341	0.655000	0.94253	AGC		0.527	ZSWIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079540.1	NM_080752		15	172	1	0	2.32078e-09	1	2.4755e-09	15	172				
SMC6	79677	broad.mit.edu	37	2	17847757	17847757	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr2:17847757C>A	ENST00000448223.2	-	27	3360	c.3091G>T	c.(3091-3093)Gac>Tac	p.D1031Y	SMC6_ENST00000402989.1_Missense_Mutation_p.D1031Y|SMC6_ENST00000351948.4_Missense_Mutation_p.D1031Y|SMC6_ENST00000381272.4_Missense_Mutation_p.D1057Y	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	1031					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AGTATCAAGTCCATGGCAATT	0.373																																						ENST00000448223.2																			0				NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43						c.(3091-3093)Gac>Tac		structural maintenance of chromosomes 6							90.0	85.0	87.0					2																	17847757		2203	4300	6503	SO:0001583	missense	79677				DNA recombination|DNA repair	chromosome|nucleus	ATP binding	g.chr2:17847757C>A	AJ310551	CCDS1690.1	2p24.3	2008-02-05	2006-07-06	2006-07-06	ENSG00000163029	ENSG00000163029		"""Structural maintenance of chromosomes proteins"""	20466	protein-coding gene	gene with protein product		609387	"""SMC6 structural maintenance of chromosomes 6-like 1 (yeast)"""	SMC6L1		11230166	Standard	NM_024624		Approved	FLJ22116	uc002rcn.3	Q96SB8	OTTHUMG00000090675	ENST00000448223.2:c.3091G>T	2.37:g.17847757C>A	ENSP00000404092:p.Asp1031Tyr					SMC6_ENST00000351948.4_Missense_Mutation_p.D1031Y|SMC6_ENST00000381272.4_Missense_Mutation_p.D1057Y|SMC6_ENST00000402989.1_Missense_Mutation_p.D1031Y	p.D1031Y	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN			27	3360	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		1031					A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0	Missense_Mutation	SNP	ENST00000448223.2	37	c.3091G>T	CCDS1690.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.875945	0.91664	.	.	ENSG00000163029	ENST00000448223;ENST00000351948;ENST00000381272;ENST00000402989	T;T;T;T	0.08193	3.12;3.12;3.12;3.12	6.08	6.08	0.98989	RecF/RecN/SMC (1);	0.050039	0.85682	D	0.000000	T	0.30386	0.0763	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00084	-1.2099	10	0.87932	D	0	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	1031	Q96SB8	SMC6_HUMAN	Y	1031;1031;1057;1031	ENSP00000404092:D1031Y;ENSP00000323439:D1031Y;ENSP00000370672:D1057Y;ENSP00000384539:D1031Y	ENSP00000323439:D1031Y	D	-	1	0	SMC6	17711238	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.487000	0.81328	2.894000	0.99253	0.591000	0.81541	GAC		0.373	SMC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207359.1	NM_024624		14	88	1	0	3.45872e-05	1	3.59347e-05	14	88				
IGDCC4	57722	broad.mit.edu	37	15	65682659	65682659	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr15:65682659C>T	ENST00000352385.2	-	13	2451	c.2242G>A	c.(2242-2244)Gga>Aga	p.G748R		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	748						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						AGGGGTGGTCCCCTCTGGATA	0.498																																						ENST00000352385.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						c.(2242-2244)Gga>Aga		immunoglobulin superfamily, DCC subclass, member 4							68.0	58.0	61.0					15																	65682659		2201	4299	6500	SO:0001583	missense	57722					integral to membrane|plasma membrane		g.chr15:65682659C>T		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13770	protein-coding gene	gene with protein product	"""likely ortholog of mouse neighbor of Punc E11"""						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.2242G>A	15.37:g.65682659C>T	ENSP00000319623:p.Gly748Arg						p.G748R	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN			13	2451	-			748					Q9HCE4	Missense_Mutation	SNP	ENST00000352385.2	37	c.2242G>A	CCDS10206.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.678735	0.47886	.	.	ENSG00000103742	ENST00000352385;ENST00000356152	T	0.55930	0.49	5.47	4.35	0.52113	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.322809	0.34178	N	0.004181	T	0.56247	0.1972	L	0.61218	1.895	0.31600	N	0.652775	P	0.47302	0.893	P	0.48704	0.587	T	0.64491	-0.6395	10	0.45353	T	0.12	-23.9882	11.6359	0.51202	0.0:0.8467:0.0:0.1533	.	748	Q8TDY8	IGDC4_HUMAN	R	748;477	ENSP00000319623:G748R	ENSP00000319623:G748R	G	-	1	0	IGDCC4	63469712	1.000000	0.71417	0.997000	0.53966	0.760000	0.43138	2.501000	0.45389	2.575000	0.86900	0.563000	0.77884	GGA		0.498	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		38	59	0	0	0	1	0	38	59				
ATP7B	540	broad.mit.edu	37	13	52516581	52516581	+	Missense_Mutation	SNP	C	C	T	rs202233544		TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr13:52516581C>T	ENST00000242839.4	-	15	3509	c.3353G>A	c.(3352-3354)cGc>cAc	p.R1118H	ATP7B_ENST00000344297.5_Missense_Mutation_p.R911H|ATP7B_ENST00000400366.3_Missense_Mutation_p.R1007H|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000400370.3_Missense_Mutation_p.R688H|ATP7B_ENST00000448424.2_Missense_Mutation_p.R1040H|ATP7B_ENST00000418097.2_Missense_Mutation_p.R1053H|ATP7B_ENST00000417240.2_Missense_Mutation_p.R329H	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1118					cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	ACTCAAAGGGCGCTCACTGTG	0.557									Wilson disease				C|||	1	0.000199681	0.0008	0.0	5008	,	,		19999	0.0		0.0	False		,,,				2504	0.0					ENST00000242839.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55	GRCh37	CD054307	ATP7B	D		c.(3352-3354)cGc>cAc		ATPase, Cu++ transporting, beta polypeptide							81.0	84.0	83.0					13																	52516581		2040	4189	6229	SO:0001583	missense	540	Wilson disease	Familial Cancer Database		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	g.chr13:52516581C>T	U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.3353G>A	13.37:g.52516581C>T	ENSP00000242839:p.Arg1118His					ATP7B_ENST00000417240.2_Missense_Mutation_p.R329H|ATP7B_ENST00000448424.2_Missense_Mutation_p.R1040H|ATP7B_ENST00000400370.3_Missense_Mutation_p.R688H|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000400366.3_Missense_Mutation_p.R1007H|ATP7B_ENST00000344297.5_Missense_Mutation_p.R911H|ATP7B_ENST00000418097.2_Missense_Mutation_p.R1053H	p.R1118H	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN		GBM - Glioblastoma multiforme(99;5.25e-08)	15	3509	-		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)	1118					Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Missense_Mutation	SNP	ENST00000242839.4	37	c.3353G>A	CCDS41892.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	8.721	0.914398	0.17907	.	.	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000344297;ENST00000417240;ENST00000448424;ENST00000400370;ENST00000418097	D;D;D;D;D;D;D	0.97328	-3.92;-3.9;-4.04;-4.08;-3.84;-4.34;-3.92	4.91	-4.04	0.04010	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);	2.169050	0.01511	N	0.017907	D	0.91710	0.7379	N	0.08118	0	0.09310	N	0.999999	B;B;B;B;B;P;B;B	0.42375	0.0;0.211;0.0;0.0;0.0;0.778;0.0;0.0	B;B;B;B;B;B;B;B	0.38156	0.001;0.266;0.001;0.0;0.001;0.102;0.001;0.002	D	0.85988	0.1487	10	0.42905	T	0.14	.	12.6271	0.56636	0.0:0.1872:0.0:0.8128	.	1040;1070;1053;329;688;1007;911;1118	E7ET55;B7ZLR4;F5H748;E7EQQ2;F5H562;P35670-3;P35670-2;P35670	.;.;.;.;.;.;.;ATP7B_HUMAN	H	1118;1007;911;329;1040;688;1053	ENSP00000242839:R1118H;ENSP00000383217:R1007H;ENSP00000342559:R911H;ENSP00000390360:R329H;ENSP00000416738:R1040H;ENSP00000383221:R688H;ENSP00000393343:R1053H	ENSP00000242839:R1118H	R	-	2	0	ATP7B	51414582	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-1.560000	0.02160	-0.783000	0.04534	-0.216000	0.12614	CGC		0.557	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053		49	90	0	0	0	1	0	49	90				
NFRKB	4798	broad.mit.edu	37	11	129739660	129739660	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr11:129739660G>A	ENST00000446488.3	-	23	3363	c.3260C>T	c.(3259-3261)aCg>aTg	p.T1087M	NFRKB_ENST00000524794.1_Missense_Mutation_p.T1112M|NFRKB_ENST00000304521.5_Missense_Mutation_p.T1087M|NFRKB_ENST00000524746.1_Missense_Mutation_p.T1087M	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	1087					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protease binding (GO:0002020)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		GATGCGGATCGTGGCAGCTGG	0.592																																						ENST00000446488.3																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32						c.(3259-3261)aCg>aTg		nuclear factor related to kappaB binding protein							124.0	113.0	117.0					11																	129739660		2201	4297	6498	SO:0001583	missense	4798				DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding	g.chr11:129739660G>A		CCDS8483.1, CCDS44770.1	11q24-q25	2011-07-06			ENSG00000170322	ENSG00000170322		"""INO80 complex subunits"""	7802	protein-coding gene	gene with protein product	"""nuclear factor related to kappa B binding protein"", ""DNA-binding protein R kappa B"", ""INO80 complex subunit G"""	164013				1427843	Standard	NM_006165		Approved	DKFZp547B2013, INO80G	uc001qfg.3	Q6P4R8	OTTHUMG00000165761	ENST00000446488.3:c.3260C>T	11.37:g.129739660G>A	ENSP00000400476:p.Thr1087Met					NFRKB_ENST00000304521.5_Missense_Mutation_p.T1087M|NFRKB_ENST00000524746.1_Missense_Mutation_p.T1087M|NFRKB_ENST00000524794.1_Missense_Mutation_p.T1112M	p.T1087M	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)	23	3363	-	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	1087					Q12869|Q15312|Q9H048	Missense_Mutation	SNP	ENST00000446488.3	37	c.3260C>T	CCDS44770.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.408287	0.83340	.	.	ENSG00000170322	ENST00000304521;ENST00000446488;ENST00000524794;ENST00000524746	.	.	.	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.68742	0.3034	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.998	T	0.71337	-0.4623	9	0.62326	D	0.03	-17.7904	18.9658	0.92695	0.0:0.0:1.0:0.0	.	1087;1086;1112	Q6P4R8;Q6P4R8-3;Q6P4R8-2	NFRKB_HUMAN;.;.	M	1087;1087;1112;1087	.	ENSP00000303800:T1087M	T	-	2	0	NFRKB	129244870	1.000000	0.71417	0.954000	0.39281	0.989000	0.77384	9.476000	0.97823	2.474000	0.83562	0.655000	0.94253	ACG		0.592	NFRKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386063.2	NM_006165		4	229	0	0	0	1	0	4	229				
PNMAL2	57469	broad.mit.edu	37	19	46998531	46998531	+	Silent	SNP	G	G	A			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr19:46998531G>A	ENST00000377655.2	-	1	191	c.192C>T	c.(190-192)gcC>gcT	p.A64A	PNMAL2_ENST00000599531.1_Silent_p.A64A|AC011484.1_ENST00000377652.3_3'UTR|PNMAL2_ENST00000594749.1_Intron			Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2	64										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		ccaccagggcggcctgggcct	0.627																																						ENST00000599531.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8						c.(190-192)gcC>gcT		paraneoplastic Ma antigen family-like 2							108.0	116.0	113.0					19																	46998531		2175	4273	6448	SO:0001819	synonymous_variant	57469							g.chr19:46998531G>A	AB033009	CCDS59400.1	19q13.32	2014-02-12	2012-02-09		ENSG00000204851	ENSG00000204851		"""Paraneoplastic Ma antigens"""	29206	protein-coding gene	gene with protein product			"""PNMA-like 2"""			10574461	Standard	NM_020709		Approved	KIAA1183	uc002pes.2	Q9ULN7		ENST00000377655.2:c.192C>T	19.37:g.46998531G>A						PNMAL2_ENST00000594749.1_Intron|AC011484.1_ENST00000377652.3_3'UTR|PNMAL2_ENST00000377655.2_Silent_p.A64A	p.A64A	NM_020709.1	NP_065760.1	Q9ULN7	PNML2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)	1	1224	-		Ovarian(192;0.00965)|all_neural(266;0.0459)	64					C9JGD5|M0R374|Q08E79|Q0D2F9|Q6ZVD1	Silent	SNP	ENST00000377655.2	37	c.192C>T																																																																																					0.627	PNMAL2-201	KNOWN	basic	protein_coding	protein_coding		NM_020709		99	77	0	0	0	1	0	99	77				
LTBP1	4052	broad.mit.edu	37	2	33518314	33518314	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr2:33518314G>A	ENST00000404816.2	+	20	3553	c.3200G>A	c.(3199-3201)gGc>gAc	p.G1067D	LTBP1_ENST00000354476.3_Missense_Mutation_p.G1068D|LTBP1_ENST00000390003.4_Missense_Mutation_p.G742D|LTBP1_ENST00000407925.1_Missense_Mutation_p.G741D|LTBP1_ENST00000272273.5_Missense_Mutation_p.G7D|LTBP1_ENST00000498013.1_3'UTR|LTBP1_ENST00000418533.2_Missense_Mutation_p.G741D|LTBP1_ENST00000404525.1_Missense_Mutation_p.G688D|LTBP1_ENST00000402934.1_Missense_Mutation_p.G688D			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1067	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TGCCACAAAGGCTATACCCGG	0.413																																						ENST00000404816.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108						c.(3199-3201)gGc>gAc		latent transforming growth factor beta binding protein 1							100.0	90.0	94.0					2																	33518314		2203	4300	6503	SO:0001583	missense	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33518314G>A		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.3200G>A	2.37:g.33518314G>A	ENSP00000386043:p.Gly1067Asp					LTBP1_ENST00000498013.1_3'UTR|LTBP1_ENST00000407925.1_Missense_Mutation_p.G741D|LTBP1_ENST00000354476.3_Missense_Mutation_p.G1068D|LTBP1_ENST00000272273.5_Missense_Mutation_p.G7D|LTBP1_ENST00000390003.4_Missense_Mutation_p.G742D|LTBP1_ENST00000418533.2_Missense_Mutation_p.G741D|LTBP1_ENST00000404525.1_Missense_Mutation_p.G688D|LTBP1_ENST00000402934.1_Missense_Mutation_p.G688D	p.G1067D			Q14766	LTBP1_HUMAN			20	3553	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	1067			EGF-like 8; calcium-binding (Potential).		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.3200G>A	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	G	23.6	4.439260	0.83885	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925;ENST00000272273	D;D;D;D;D;D;D;D	0.92545	-3.03;-3.03;-3.03;-3.03;-3.03;-3.03;-3.03;-3.06	5.66	5.66	0.87406	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.96222	0.8768	M	0.86953	2.85	0.54753	D	0.999983	D;D;P;P;D;P;D	0.64830	0.994;0.988;0.954;0.604;0.973;0.953;0.974	P;D;P;B;P;P;P	0.62955	0.807;0.909;0.645;0.299;0.736;0.597;0.756	D	0.96633	0.9468	9	0.87932	D	0	.	17.2525	0.87046	0.0:0.0:1.0:0.0	.	7;1067;741;688;741;742;1068	E7EUU6;Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	.;LTBP1_HUMAN;.;.;.;.;.	D	1067;1068;742;741;688;688;741;7	ENSP00000386043:G1067D;ENSP00000346467:G1068D;ENSP00000374653:G742D;ENSP00000393057:G741D;ENSP00000384373:G688D;ENSP00000385359:G688D;ENSP00000384091:G741D;ENSP00000272273:G7D	ENSP00000272273:G7D	G	+	2	0	LTBP1	33371818	1.000000	0.71417	0.979000	0.43373	0.812000	0.45895	7.039000	0.76544	2.663000	0.90544	0.555000	0.69702	GGC		0.413	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		76	95	0	0	0	1	0	76	95				
HYKK	123688	broad.mit.edu	37	15	78805580	78805580	+	Silent	SNP	C	C	G			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr15:78805580C>G	ENST00000569878.1	+	1	150	c.150C>G	c.(148-150)gtC>gtG	p.V50V	HYKK_ENST00000360519.3_Silent_p.V50V|HYKK_ENST00000408962.2_Silent_p.V50V|HYKK_ENST00000563233.1_Silent_p.V50V|HYKK_ENST00000388988.4_Silent_p.V50V|HYKK_ENST00000566332.1_Silent_p.V50V			A2RU49	HYKK_HUMAN	hydroxylysine kinase	50						cytoplasm (GO:0005737)	hydroxylysine kinase activity (GO:0047992)										ACTTTCATGTCTACGTTTCAA	0.438																																						ENST00000566332.1																			0											c.(148-150)gtC>gtG		hydroxylysine kinase							103.0	100.0	101.0					15																	78805580		1997	4174	6171	SO:0001819	synonymous_variant	123688							g.chr15:78805580C>G	BC132753, BC144383, BM045979	CCDS42063.1, CCDS45318.1	15q25.1	2013-06-11	2013-06-11	2013-06-11	ENSG00000188266	ENSG00000188266	2.7.1.81		34403	protein-coding gene	gene with protein product	"""5-hydroxylysine kinase"""	614681	"""aminoglycoside phosphotransferase domain containing 1"""	AGPHD1		18780872, 22241472	Standard	NM_001013619		Approved	LOC123688	uc010unc.2	A2RU49		ENST00000569878.1:c.150C>G	15.37:g.78805580C>G						HYKK_ENST00000569878.1_Silent_p.V50V|HYKK_ENST00000388988.4_Silent_p.V50V|HYKK_ENST00000408962.2_Silent_p.V50V|HYKK_ENST00000360519.3_Silent_p.V50V|HYKK_ENST00000563233.1_Silent_p.V50V	p.V50V							2	210	+								B7ZMA5|F8W6X5|Q6ZTN0	Silent	SNP	ENST00000569878.1	37	c.150C>G	CCDS42063.1																																																																																				0.438	HYKK-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435834.1	NM_001013619		70	150	0	0	0	1	0	70	150				
POTEC	388468	broad.mit.edu	37	18	14513675	14513675	+	Missense_Mutation	SNP	T	T	C	rs371810308	byFrequency	TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr18:14513675T>C	ENST00000358970.5	-	10	1518	c.1519A>G	c.(1519-1521)Aaa>Gaa	p.K507E		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	507								p.K507E(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GAATTCATTTTCTTTTCAGCC	0.284													.|||	3	0.000599042	0.0	0.0	5008	,	,		16953	0.003		0.0	False		,,,				2504	0.0					ENST00000358970.5																			2	Substitution - Missense(2)	p.K507E(2)	urinary_tract(1)|prostate(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(1519-1521)Aaa>Gaa		POTE ankyrin domain family, member C							164.0	115.0	130.0					18																	14513675		692	1590	2282	SO:0001583	missense	388468							g.chr18:14513675T>C	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1519A>G	18.37:g.14513675T>C	ENSP00000351856:p.Lys507Glu						p.K507E	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			10	1518	-			507						Missense_Mutation	SNP	ENST00000358970.5	37	c.1519A>G	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	t	0.001	-3.812128	0.00004	.	.	ENSG00000183206	ENST00000358970	T	0.32753	1.44	1.53	-3.07	0.05363	.	.	.	.	.	T	0.10165	0.0249	N	0.11427	0.14	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31752	-0.9932	9	0.02654	T	1	.	3.0168	0.06063	0.0:0.3604:0.2511:0.3885	.	507	B2RU33	POTEC_HUMAN	E	507	ENSP00000351856:K507E	ENSP00000351856:K507E	K	-	1	0	POTEC	14503675	0.024000	0.19004	0.012000	0.15200	0.024000	0.10985	-0.021000	0.12504	-1.054000	0.03214	-3.018000	0.00074	AAA		0.284	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		5	261	0	0	0	1	0	5	261				
KAL1	3730	broad.mit.edu	37	X	8502385	8502385	+	Silent	SNP	C	C	A			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chrX:8502385C>A	ENST00000262648.3	-	13	2108	c.1959G>T	c.(1957-1959)ccG>ccT	p.P653P	KAL1_ENST00000481896.1_5'Flank	NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	653	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						GTGGGAGCTCCGGCGTCCGGA	0.562																																						ENST00000262648.3																			0				breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						c.(1957-1959)ccG>ccT		Kallmann syndrome 1 sequence							49.0	41.0	44.0					X																	8502385		2203	4300	6503	SO:0001819	synonymous_variant	3730				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity	g.chrX:8502385C>A		CCDS14130.1	Xp22.32	2013-02-11			ENSG00000011201	ENSG00000011201		"""WAP four-disulfide core domain containing"", ""Fibronectin type III domain containing"""	6211	protein-coding gene	gene with protein product	"""anosmin-1"", ""WAP four-disulfide core domain 19"""	300836		KAL, ADMLX		11463336	Standard	NM_000216		Approved	KALIG-1, WFDC19	uc004csf.3	P23352	OTTHUMG00000021107	ENST00000262648.3:c.1959G>T	X.37:g.8502385C>A							p.P653P	NM_000216.2	NP_000207.2	P23352	KALM_HUMAN			13	2108	-			653					B2RPF8	Silent	SNP	ENST00000262648.3	37	c.1959G>T	CCDS14130.1																																																																																				0.562	KAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055692.1	NM_000216		3	57	1	0	1	1	1	3	57				
C18orf25	147339	broad.mit.edu	37	18	43833711	43833711	+	Missense_Mutation	SNP	C	C	T	rs373637995		TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr18:43833711C>T	ENST00000282059.6	+	4	1321	c.947C>T	c.(946-948)gCg>gTg	p.A316V	C18orf25_ENST00000321319.6_Missense_Mutation_p.A255V	NM_145055.3	NP_659492	Q96B23	CR025_HUMAN	chromosome 18 open reading frame 25	316								p.A316V(1)		central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						TCTGGCAATGCGCCACTCAAT	0.408													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18936	0.0		0.0	False		,,,				2504	0.0					ENST00000282059.6																			1	Substitution - Missense(1)	p.A316V(1)	central_nervous_system(1)	central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						c.(946-948)gCg>gTg		chromosome 18 open reading frame 25		C	VAL/ALA,VAL/ALA	0,3750		0,0,1875	135.0	123.0	127.0		764,947	4.0	0.2	18		127	1,8187		0,1,4093	no	missense,missense	C18orf25	NM_001008239.2,NM_145055.3	64,64	0,1,5968	TT,TC,CC		0.0122,0.0,0.0084	benign,benign	255/343,316/404	43833711	1,11937	1875	4094	5969	SO:0001583	missense	147339							g.chr18:43833711C>T	AL713661	CCDS42430.1, CCDS42431.1	18q21.1	2014-01-03			ENSG00000152242	ENSG00000152242			28172	protein-coding gene	gene with protein product	"""ARKadia-like 1"""					15722956	Standard	NM_001008239		Approved	MGC12909, ARKL1, RNF111L1	uc002lbw.3	Q96B23		ENST00000282059.6:c.947C>T	18.37:g.43833711C>T	ENSP00000282059:p.Ala316Val					C18orf25_ENST00000321319.6_Missense_Mutation_p.A255V	p.A316V	NM_145055.3	NP_659492.1	Q96B23	CR025_HUMAN			4	1321	+			316					A8K123|A8KAB6|Q5XG78|Q6N058|Q86TB5|Q8TCQ5	Missense_Mutation	SNP	ENST00000282059.6	37	c.947C>T	CCDS42430.1	.	.	.	.	.	.	.	.	.	.	C	4.446	0.082520	0.08533	0.0	1.22E-4	ENSG00000152242	ENST00000282059;ENST00000321319	.	.	.	4.88	4.01	0.46588	.	0.476716	0.21400	N	0.075170	T	0.22589	0.0545	N	0.05280	-0.08	0.34447	D	0.700269	B;B	0.34061	0.436;0.135	B;B	0.24541	0.054;0.01	T	0.30765	-0.9967	9	0.25106	T	0.35	-4.8522	11.6966	0.51546	0.0:0.9165:0.0:0.0835	.	255;316	Q96B23-2;Q96B23	.;CR025_HUMAN	V	316;255	.	ENSP00000282059:A316V	A	+	2	0	C18orf25	42087709	0.784000	0.28713	0.220000	0.23810	0.001000	0.01503	1.115000	0.31209	1.180000	0.42898	0.585000	0.79938	GCG		0.408	C18orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445242.1	NM_145055		5	222	0	0	0	1	0	5	222				
GLTSCR1L	23506	broad.mit.edu	37	6	42821420	42821420	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr6:42821420G>A	ENST00000314073.5	+	8	2166	c.1990G>A	c.(1990-1992)Gca>Aca	p.A664T	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.A664T			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	664																	CTTAGGAACCGCACAACCACA	0.428																																						ENST00000314073.5																			0											c.(1990-1992)Gca>Aca		GLTSCR1-like							151.0	130.0	137.0					6																	42821420		2203	4300	6503	SO:0001583	missense	23506							g.chr6:42821420G>A	AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"""KIAA0240"""	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.1990G>A	6.37:g.42821420G>A	ENSP00000313933:p.Ala664Thr					GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.A664T	p.A664T							8	2166	+								A1L3W2|Q5TFZ3|Q92514	Missense_Mutation	SNP	ENST00000314073.5	37	c.1990G>A	CCDS34451.1	.	.	.	.	.	.	.	.	.	.	G	7.063	0.566769	0.13560	.	.	ENSG00000112624	ENST00000394167;ENST00000536004;ENST00000314073;ENST00000394168	T;T	0.44881	0.91;0.91	4.88	-8.72	0.00845	.	1.206860	0.05800	N	0.611940	T	0.09247	0.0228	L	0.36672	1.1	0.09310	N	0.999996	B	0.10296	0.003	B	0.06405	0.002	T	0.12451	-1.0547	10	0.12103	T	0.63	5.0E-4	9.9784	0.41797	0.4926:0.0938:0.4136:0.0	.	664	Q6AI39	K0240_HUMAN	T	664	ENSP00000313933:A664T;ENSP00000377723:A664T	ENSP00000313933:A664T	A	+	1	0	KIAA0240	42929398	0.000000	0.05858	0.004000	0.12327	0.496000	0.33645	-1.124000	0.03260	-1.616000	0.01572	-0.369000	0.07265	GCA		0.428	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040562.3	NM_015349		5	182	0	0	0	1	0	5	182				
ARSI	340075	broad.mit.edu	37	5	149677437	149677437	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr5:149677437C>T	ENST00000328668.7	-	2	1629	c.1050G>A	c.(1048-1050)tgG>tgA	p.W350*		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	350					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGTCGGGTACCAGTCAGTGA	0.637																																						ENST00000328668.7																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23						c.(1048-1050)tgG>tgA		arylsulfatase family, member I							33.0	35.0	34.0					5																	149677437		2203	4300	6503	SO:0001587	stop_gained	340075					endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding	g.chr5:149677437C>T	AY875937	CCDS34275.1	5q32	2014-03-03	2006-03-07			ENSG00000183876		"""Arylsulfatase family"""	32521	protein-coding gene	gene with protein product		610009	"""arylsulfatase I"""			16174644, 24482476	Standard	NM_001012301		Approved	FLJ16069, SPG66	uc003lrv.2	Q5FYB1		ENST00000328668.7:c.1050G>A	5.37:g.149677437C>T	ENSP00000333395:p.Trp350*						p.W350*	NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	1629	-			350					A1L3B0|B3KV22|B7XD03	Nonsense_Mutation	SNP	ENST00000328668.7	37	c.1050G>A	CCDS34275.1	.	.	.	.	.	.	.	.	.	.	C	36	5.715550	0.96830	.	.	ENSG00000183876	ENST00000328668;ENST00000515301	.	.	.	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.9599	0.89082	0.0:1.0:0.0:0.0	.	.	.	.	X	350;207	.	ENSP00000333395:W350X	W	-	3	0	ARSI	149657630	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.651000	0.83577	2.460000	0.83146	0.561000	0.74099	TGG		0.637	ARSI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373681.1	NM_001012301		14	86	0	0	0	1	0	14	86				
SPEG	10290	broad.mit.edu	37	2	220299766	220299766	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr2:220299766delC	ENST00000312358.7	+	1	199	c.67delC	c.(67-69)cccfs	p.P24fs		NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	24					cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCCCGGAGTGCCCCCGAAAAG	0.756																																						ENST00000312358.7																			0				breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100						c.(67-69)ccfs		SPEG complex locus							1.0	2.0	2.0					2																	220299766		1037	2595	3632	SO:0001589	frameshift_variant	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220299766delC	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.67delC	2.37:g.220299766delC	ENSP00000311684:p.Pro24fs						p.P24fs	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	1	199	+		Renal(207;0.0183)	24					A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Frame_Shift_Del	DEL	ENST00000312358.7	37	c.67delC	CCDS42824.1																																																																																				0.756	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		2	4						2	4	---	---	---	---
CDH10	1008	broad.mit.edu	37	5	24492973	24492973	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr5:24492973delA	ENST00000264463.4	-	10	2084	c.1577delT	c.(1576-1578)ttcfs	p.F526fs	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	526	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AGCTAAACTGAAAAAAAATTT	0.313										HNSCC(23;0.051)																												ENST00000264463.4																			0				NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185						c.(1576-1578)tcfs		cadherin 10, type 2 (T2-cadherin)							170.0	183.0	179.0					5																	24492973		2203	4298	6501	SO:0001589	frameshift_variant	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24492973delA	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1577delT	5.37:g.24492973delA	ENSP00000264463:p.Phe526fs	HNSCC(23;0.051)				CDH10_ENST00000502921.1_5'UTR	p.F526fs	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	10	2084	-			526			Cadherin 5.		Q9ULB3	Frame_Shift_Del	DEL	ENST00000264463.4	37	c.1577delT	CCDS3892.1																																																																																				0.313	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		8	600						8	600	---	---	---	---
ZNF184	7738	broad.mit.edu	37	6	27420810	27420810	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr6:27420810delT	ENST00000211936.6	-	6	812	c.528delA	c.(526-528)aaafs	p.K176fs	ZNF184_ENST00000377419.1_Frame_Shift_Del_p.K176fs	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	176					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTACAGGGCCTTTTTCCCAAC	0.408																																						ENST00000211936.6																			0				breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(526-528)aafs		zinc finger protein 184							237.0	235.0	236.0					6																	27420810		2203	4300	6503	SO:0001589	frameshift_variant	7738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27420810delT	U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"""Zinc fingers, C2H2-type"", ""-"""	12975	protein-coding gene	gene with protein product		602277	"""zinc finger protein 184 (Kruppel-like)"""				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.528delA	6.37:g.27420810delT	ENSP00000211936:p.Lys176fs					ZNF184_ENST00000377419.1_Frame_Shift_Del_p.K176fs	p.K176fs	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN			6	812	-			176					B2R715|O60792|Q8TBA9	Frame_Shift_Del	DEL	ENST00000211936.6	37	c.528delA	CCDS4624.1																																																																																				0.408	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149		7	571						7	571	---	---	---	---
RP11-114H23.1	0	broad.mit.edu	37	12	76082490	76082491	+	lincRNA	INS	-	-	T	rs71276351		TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr12:76082490_76082491insT	ENST00000552856.1	-	0	401				SNORA70_ENST00000516084.2_RNA																							cattctTTTTCTTTTTTTTTTT	0.361																																						ENST00000552856.1																			0																																																			0							g.chr12:76082490_76082491insT																													12.37:g.76082501_76082501dupT														0	401	-									RNA	INS	ENST00000552856.1	37																																																																																						0.361	RP11-114H23.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000405775.2			12	12						12	12	---	---	---	---
MLEC	9761	broad.mit.edu	37	12	121134166	121134168	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr12:121134166_121134168delGAA	ENST00000228506.3	+	5	1125_1127	c.697_699delGAA	c.(697-699)gaadel	p.E238del	MLEC_ENST00000412616.2_In_Frame_Del_p.K159del|RP11-173P15.3_ENST00000541383.1_RNA|RP11-173P15.3_ENST00000535720.1_RNA	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	238	Poly-Glu.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|enzyme binding (GO:0019899)	p.E233E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						gaaagaagaggaagaagaagaag	0.458																																						ENST00000228506.3																			1	Substitution - coding silent(1)	p.E233E(1)	large_intestine(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						c.(697-699)del		malectin				4,33,4227		0,0,4,8,17,2103						1.0	1.0			129	1,29,8224		0,0,1,6,17,4103	no	codingComplex	MLEC	NM_014730.2		0,0,5,14,34,6206	A1A1,A1A2,A1R,A2A2,A2R,RR		0.3635,0.8677,0.5352				5,62,12451				SO:0001651	inframe_deletion	9761				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding	g.chr12:121134166_121134168delGAA	BC000371	CCDS9206.1	12q24.31	2013-03-06	2008-11-05	2008-11-05	ENSG00000110917	ENSG00000110917			28973	protein-coding gene	gene with protein product	"""oligosaccharyltransferase complex subunit (non-catalytic)"""	613802	"""KIAA0152"""	KIAA0152		18524852	Standard	NM_014730		Approved		uc001tyy.1	Q14165	OTTHUMG00000169187	ENST00000228506.3:c.697_699delGAA	12.37:g.121134175_121134177delGAA	ENSP00000228506:p.Glu238del					MLEC_ENST00000412616.2_In_Frame_Del_p.RK154del	p.E238del	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN			5	1125_1127	+			238			Poly-Glu.			In_Frame_Del	DEL	ENST00000228506.3	37	c.697_699delGAA	CCDS9206.1																																																																																				0.458	MLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402781.2	NM_014730		10	369						10	369	---	---	---	---
CFL2	1073	broad.mit.edu	37	14	35182753	35182754	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr14:35182753_35182754delTG	ENST00000341223.3	-	2	168_169	c.17_18delCA	c.(16-18)acafs	p.T6fs	CFL2_ENST00000298159.6_Frame_Shift_Del_p.T6fs|CFL2_ENST00000556161.1_5'UTR|CFL2_ENST00000555765.1_5'UTR	NM_001243645.1|NM_021914.7	NP_001230574.1|NP_068733.1	Q9Y281	COF2_HUMAN	cofilin 2 (muscle)	6	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				actin filament depolymerization (GO:0030042)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of actin filament depolymerization (GO:0030836)|regulation of dendritic spine morphogenesis (GO:0061001)|sarcomere organization (GO:0045214)	actin cytoskeleton (GO:0015629)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|nucleus (GO:0005634)				breast(3)|endometrium(2)|lung(3)	8	Breast(36;0.0361)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;6.07e-06)|Lung(238;2.23e-05)|Epithelial(34;0.0387)|all cancers(34;0.0814)	GBM - Glioblastoma multiforme(112;0.0424)		CATCATTCACTGTAACTCCAGA	0.332																																						ENST00000341223.3																			0				breast(3)|endometrium(2)|lung(3)	8						c.(16-18)afs		cofilin 2 (muscle)																																				SO:0001589	frameshift_variant	1073					cytoplasm|cytoskeleton|nuclear matrix	actin binding	g.chr14:35182753_35182754delTG	AF087867	CCDS9649.1, CCDS9650.1, CCDS58311.1	14q13.2	2014-09-17			ENSG00000165410	ENSG00000165410			1875	protein-coding gene	gene with protein product	"""nemaline myopathy type 7"""	601443				8800436	Standard	NM_138638		Approved	NEM7	uc001wsh.3	Q9Y281	OTTHUMG00000029536	ENST00000341223.3:c.17_18delCA	14.37:g.35182753_35182754delTG	ENSP00000340635:p.Thr6fs					CFL2_ENST00000298159.6_Frame_Shift_Del_p.T6fs|CFL2_ENST00000556161.1_5'UTR|CFL2_ENST00000555765.1_5'UTR	p.T6fs	NM_001243645.1|NM_021914.7	NP_001230574.1|NP_068733.1	Q9Y281	COF2_HUMAN	LUAD - Lung adenocarcinoma(48;6.07e-06)|Lung(238;2.23e-05)|Epithelial(34;0.0387)|all cancers(34;0.0814)	GBM - Glioblastoma multiforme(112;0.0424)	2	168_169	-	Breast(36;0.0361)|Hepatocellular(127;0.158)		6			ADF-H.		G3V5P4	Frame_Shift_Del	DEL	ENST00000341223.3	37	c.17_18delCA	CCDS9650.1																																																																																				0.332	CFL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276639.1	NM_138638		48	97						48	97	---	---	---	---
RP11-652G5.1	0	broad.mit.edu	37	16	32611806	32611806	+	RNA	DEL	T	T	-			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr16:32611806delT	ENST00000562976.1	+	0	135																											gatgtgccagtttttctgtat	0.333																																						ENST00000562976.1																			0																																																			0							g.chr16:32611806delT																													16.37:g.32611806delT														0	135	+									RNA	DEL	ENST00000562976.1	37																																																																																						0.333	RP11-652G5.1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432347.1			11	56						11	56	---	---	---	---
LONRF3	79836	broad.mit.edu	37	X	118108965	118108965	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chrX:118108965delA	ENST00000371628.3	+	1	253	c.222delA	c.(220-222)gcafs	p.A74fs	LONRF3_ENST00000422289.2_5'Flank|LONRF3_ENST00000304778.7_Frame_Shift_Del_p.A74fs	NM_001031855.1	NP_001027026.1	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	74							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						TCACGCAGGCAGACGCCTTGG	0.672																																						ENST00000365713.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						c.(220-222)gcfs		LON peptidase N-terminal domain and ring finger 3							8.0	10.0	10.0					X																	118108965		2149	4181	6330	SO:0001589	frameshift_variant	79836				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding	g.chrX:118108965delA	AK026265	CCDS14575.1, CCDS35374.1, CCDS76014.1	Xq24	2013-01-09	2005-08-19	2005-08-19	ENSG00000175556	ENSG00000175556		"""RING-type (C3HC4) zinc fingers"""	21152	protein-coding gene	gene with protein product			"""ring finger protein 127"""	RNF127			Standard	XM_005262476		Approved	FLJ22612	uc004eqw.3	Q496Y0	OTTHUMG00000022262	ENST00000371628.3:c.222delA	X.37:g.118108965delA	ENSP00000360690:p.Ala74fs					LONRF3_ENST00000304778.7_Frame_Shift_Del_p.A74fs|LONRF3_ENST00000371628.3_Frame_Shift_Del_p.A74fs	p.A74fs			Q496Y0	LONF3_HUMAN			1	385	+			74					Q5JPN6|Q8NB00|Q9H647	Frame_Shift_Del	DEL	ENST00000371628.3	37	c.222delA	CCDS35374.1																																																																																				0.672	LONRF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355124.2	NM_024778		2	4						2	4	---	---	---	---
