#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
GPR155	151556	broad.mit.edu	37	2	175335263	175335263	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr2:175335263C>T	ENST00000392552.2	-	4	1119	c.881G>A	c.(880-882)tGc>tAc	p.C294Y	GPR155_ENST00000392551.2_Missense_Mutation_p.C294Y|GPR155_ENST00000295500.4_Missense_Mutation_p.C294Y	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	294					cognition (GO:0050890)|intracellular signal transduction (GO:0035556)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						CATTTCTCTGCACAGAAGTGG	0.433																																						ENST00000392552.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						c.(880-882)tGc>tAc		G protein-coupled receptor 155							86.0	74.0	78.0					2																	175335263		2203	4300	6503	SO:0001583	missense	151556				intracellular signal transduction|transmembrane transport	integral to membrane		g.chr2:175335263C>T	AY255528	CCDS2259.1, CCDS74605.1	2q31.1	2012-04-10			ENSG00000163328	ENSG00000163328			22951	protein-coding gene	gene with protein product						12679517	Standard	NM_001033045		Approved	DEPDC3, DEP.7, FLJ31819, PGR22	uc002uiu.4	Q7Z3F1	OTTHUMG00000132336	ENST00000392552.2:c.881G>A	2.37:g.175335263C>T	ENSP00000376335:p.Cys294Tyr					GPR155_ENST00000392551.2_Missense_Mutation_p.C294Y|GPR155_ENST00000295500.4_Missense_Mutation_p.C294Y	p.C294Y	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN			4	1119	-			294					B2RCI2|D3DPE2|Q4G0Y6|Q53SJ3|Q53TA8|Q69YG8|Q86SP9|Q8N261|Q8N639|Q8N8K3|Q96MV6	Missense_Mutation	SNP	ENST00000392552.2	37	c.881G>A	CCDS2259.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.703818	0.88924	.	.	ENSG00000163328	ENST00000392552;ENST00000392551;ENST00000295500	T;T;T	0.45668	0.89;0.89;0.89	6.07	6.07	0.98685	.	0.039375	0.85682	D	0.000000	T	0.66197	0.2765	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.65228	-0.6219	10	0.72032	D	0.01	-3.8542	20.6593	0.99626	0.0:1.0:0.0:0.0	.	294	Q7Z3F1	GP155_HUMAN	Y	294	ENSP00000376335:C294Y;ENSP00000376334:C294Y;ENSP00000295500:C294Y	ENSP00000295500:C294Y	C	-	2	0	GPR155	175043509	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.487000	0.81328	2.885000	0.99019	0.655000	0.94253	TGC		0.433	GPR155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255455.1	NM_152529		3	40	0	0	0	1	0	3	40				
COL4A3	1285	broad.mit.edu	37	2	228149037	228149037	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr2:228149037G>C	ENST00000396578.3	+	34	3019	c.2857G>C	c.(2857-2859)Gac>Cac	p.D953H	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	953	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CGTAATAGGGGACAAAGGAGA	0.468																																						ENST00000396578.3																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(2857-2859)Gac>Cac		collagen, type IV, alpha 3 (Goodpasture antigen)							58.0	67.0	64.0					2																	228149037		1863	4102	5965	SO:0001583	missense	1285				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	g.chr2:228149037G>C		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.2857G>C	2.37:g.228149037G>C	ENSP00000379823:p.Asp953His					AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA	p.D953H	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)	34	3019	+		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)	953			Triple-helical region.		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	ENST00000396578.3	37	c.2857G>C	CCDS42829.1	.	.	.	.	.	.	.	.	.	.	G	10.70	1.423631	0.25639	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	D	0.94330	-3.4	5.73	4.85	0.62838	.	0.416869	0.22908	N	0.054164	D	0.90978	0.7163	L	0.49571	1.57	0.31821	N	0.626023	B;B;B;B	0.17852	0.024;0.024;0.004;0.005	B;B;B;B	0.19148	0.024;0.024;0.013;0.022	D	0.89797	0.3972	10	0.54805	T	0.06	.	14.2221	0.65833	0.0:0.1496:0.8504:0.0	.	953;953;953;953	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	H	953	ENSP00000379823:D953H	ENSP00000323334:D953H	D	+	1	0	COL4A3	227857281	0.995000	0.38212	0.999000	0.59377	0.342000	0.28953	2.140000	0.42159	1.435000	0.47434	-0.122000	0.15005	GAC		0.468	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		4	16	0	0	0	1	0	4	16				
GRM3	2913	broad.mit.edu	37	7	86415688	86415688	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr7:86415688G>A	ENST00000361669.2	+	3	1679	c.580G>A	c.(580-582)Gac>Aac	p.D194N	GRM3_ENST00000546348.1_Intron|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000394720.2_Missense_Mutation_p.D192N|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000536043.1_Missense_Mutation_p.D66N|GRM3_ENST00000439827.1_Missense_Mutation_p.D194N	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	194					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					CGTGCCCCCCGACTTCTACCA	0.567																																					GBM(52;969 1098 3139 52280)	ENST00000361669.2																			0				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(580-582)Gac>Aac		glutamate receptor, metabotropic 3	Acamprosate(DB00659)|Nicotine(DB00184)						112.0	102.0	105.0					7																	86415688		2203	4300	6503	SO:0001583	missense	2913				synaptic transmission	integral to plasma membrane		g.chr7:86415688G>A		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.580G>A	7.37:g.86415688G>A	ENSP00000355316:p.Asp194Asn					GRM3_ENST00000536043.1_Missense_Mutation_p.D66N|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000394720.2_Missense_Mutation_p.D192N|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000439827.1_Missense_Mutation_p.D194N	p.D194N	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN			3	1679	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		194					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.580G>A	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	G	33	5.226179	0.95173	.	.	ENSG00000198822	ENST00000361669;ENST00000454217;ENST00000536043;ENST00000439827;ENST00000394720	D;D;D;D;D	0.90788	-2.73;-2.73;-2.73;-2.73;-2.73	5.72	5.72	0.89469	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.96386	0.8821	M	0.90145	3.09	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.97;1.0	D	0.96749	0.9552	10	0.87932	D	0	.	18.8634	0.92281	0.0:0.0:1.0:0.0	.	66;194;194	F5GYZ2;G5E9K2;Q14832	.;.;GRM3_HUMAN	N	194;66;66;194;192	ENSP00000355316:D194N;ENSP00000405427:D66N;ENSP00000441407:D66N;ENSP00000398767:D194N;ENSP00000378209:D192N	ENSP00000355316:D194N	D	+	1	0	GRM3	86253624	1.000000	0.71417	0.972000	0.41901	0.997000	0.91878	9.756000	0.98918	2.711000	0.92665	0.655000	0.94253	GAC		0.567	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			33	87	0	0	0	1	0	33	87				
LRRC37A16P	651250	broad.mit.edu	37	17	66131658	66131658	+	RNA	SNP	C	C	A	rs7210736	byFrequency	TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr17:66131658C>A	ENST00000590019.1	-	0	298									leucine rich repeat containing 37, member A16, pseudogene																		AAGTCATCATCCAGCTTGGTC	0.587													C|||	1651	0.329673	0.4009	0.1441	5008	,	,		16568	0.625		0.1809	False		,,,				2504	0.2137					ENST00000590019.1																			0																																																			651250							g.chr17:66131658C>A			17q24.2	2012-10-18				ENSG00000267023			43820	pseudogene	pseudogene							Standard	NG_023507		Approved				OTTHUMG00000180160		17.37:g.66131658C>A														0	298	-									RNA	SNP	ENST00000590019.1	37																																																																																						0.587	LRRC37A16P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000450078.1			4	79	1	0	0.150653	1	0.150653	4	79				
MAML3	55534	broad.mit.edu	37	4	140811099	140811099	+	Splice_Site	SNP	C	C	T			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr4:140811099C>T	ENST00000398940.1	-	1	107	c.108G>A	c.(106-108)caG>caA	p.Q36Q	MAML3_ENST00000327122.5_Silent_p.Q341Q|MAML3_ENST00000509479.2_Silent_p.Q497Q					mastermind-like 3 (Drosophila)									p.Q497Q(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.542																																						ENST00000398940.1																			2	Substitution - coding silent(2)	p.Q497Q(2)	prostate(2)	breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.e1+1		mastermind-like 3 (Drosophila)							13.0	19.0	17.0					4																	140811099		2117	4226	6343	SO:0001630	splice_region_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811099C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000398940.1:c.108+1G>A	4.37:g.140811099C>T						MAML3_ENST00000509479.2_Silent_p.Q497Q|MAML3_ENST00000327122.5_Silent_p.Q341Q	p.Q36_splice			Q96JK9	MAML3_HUMAN			1	107	-	all_hematologic(180;0.162)		497						Splice_Site	SNP	ENST00000398940.1	37	c.108_splice																																																																																					0.542	MAML3-202	KNOWN	basic	protein_coding	protein_coding			Silent	4	45	0	0	0	1	0	4	45				
FXYD3	5349	broad.mit.edu	37	19	35613736	35613736	+	Silent	SNP	C	C	T	rs567610782		TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr19:35613736C>T	ENST00000344013.6	+	6	361	c.165C>T	c.(163-165)atC>atT	p.I55I	FXYD3_ENST00000435734.2_Silent_p.I55I|FXYD3_ENST00000605677.1_Silent_p.I55I|FXYD3_ENST00000604255.1_Silent_p.I112I|LGI4_ENST00000493050.1_5'Flank|FXYD3_ENST00000604621.1_Silent_p.I55I|FXYD3_ENST00000603524.1_Silent_p.I84I|FXYD3_ENST00000346446.5_Silent_p.I55I|FXYD3_ENST00000603181.1_Silent_p.I55I|FXYD3_ENST00000604804.1_Silent_p.I84I|FXYD3_ENST00000406242.3_Silent_p.I55I|FXYD3_ENST00000406988.1_Silent_p.I55I|FXYD3_ENST00000604404.1_Silent_p.I55I|FXYD3_ENST00000605550.1_Silent_p.I55I|FXYD3_ENST00000535103.1_Silent_p.I112I			Q14802	FXYD3_HUMAN	FXYD domain containing ion transport regulator 3	55					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of catalytic activity (GO:0050790)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			endometrium(1)|lung(2)|prostate(1)	4	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			GCATCATCATCGTCATGAGTG	0.637																																						ENST00000435734.2																			0				endometrium(1)|lung(2)|prostate(1)	4						c.(163-165)atC>atT		FXYD domain containing ion transport regulator 3							77.0	82.0	81.0					19																	35613736		2203	4300	6503	SO:0001819	synonymous_variant	5349					chloride channel complex|integral to plasma membrane	chloride channel activity	g.chr19:35613736C>T	X93036	CCDS12442.1, CCDS12443.1, CCDS46048.1, CCDS46049.1, CCDS46050.1	19q13.11-q13.12	2008-05-14	2002-01-14			ENSG00000089356			4027	protein-coding gene	gene with protein product		604996	"""FXYD domain-containing ion transport regulator 3"""	PLML		7836447, 10950925	Standard	NM_005971		Approved	MAT-8	uc010xsm.2	Q14802		ENST00000344013.6:c.165C>T	19.37:g.35613736C>T						FXYD3_ENST00000604404.1_Silent_p.I55I|FXYD3_ENST00000346446.5_Silent_p.I55I|FXYD3_ENST00000605677.1_Silent_p.I55I|FXYD3_ENST00000603524.1_Silent_p.I84I|FXYD3_ENST00000406988.1_Silent_p.I55I|FXYD3_ENST00000603181.1_Silent_p.I55I|FXYD3_ENST00000604804.1_Silent_p.I84I|FXYD3_ENST00000406242.3_Silent_p.I55I|FXYD3_ENST00000604255.1_Silent_p.I112I|FXYD3_ENST00000535103.1_Silent_p.I112I|FXYD3_ENST00000605550.1_Silent_p.I55I|FXYD3_ENST00000604621.1_Silent_p.I55I|FXYD3_ENST00000344013.6_Silent_p.I55I	p.I55I	NM_001136011.1|NM_021910.2	NP_001129483.1|NP_068710.1	Q14802	FXYD3_HUMAN	Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)		7	424	+	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		55					A6NDE0|C9JDU2|F5H174|F8WB34|Q13211|Q6IB59	Silent	SNP	ENST00000344013.6	37	c.165C>T	CCDS12442.1																																																																																				0.637	FXYD3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000468985.1	NM_021910		5	121	0	0	0	1	0	5	121				
ABAT	18	broad.mit.edu	37	16	8829602	8829602	+	Silent	SNP	C	C	T			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr16:8829602C>T	ENST00000396600.2	+	2	944	c.6C>T	c.(4-6)gcC>gcT	p.A2A	ABAT_ENST00000425191.2_Silent_p.A2A|ABAT_ENST00000569156.1_Silent_p.A2A|ABAT_ENST00000567812.1_Silent_p.A17A|ABAT_ENST00000268251.8_Silent_p.A2A	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	2					behavioral response to cocaine (GO:0048148)|copulation (GO:0007620)|gamma-aminobutyric acid catabolic process (GO:0009450)|locomotory behavior (GO:0007626)|negative regulation of blood pressure (GO:0045776)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	4-aminobutyrate transaminase complex (GO:0032144)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	(S)-3-amino-2-methylpropionate transaminase activity (GO:0047298)|4-aminobutyrate transaminase activity (GO:0003867)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|succinate-semialdehyde dehydrogenase binding (GO:0032145)			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					L-Alanine(DB00160)|Phenelzine(DB00780)|Pyruvic acid(DB00119)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	GGGTCATGGCCTCCATGTTGC	0.592																																						ENST00000396600.2																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26						c.(4-6)gcC>gcT		4-aminobutyrate aminotransferase	Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)						39.0	30.0	33.0					16																	8829602		2197	4300	6497	SO:0001819	synonymous_variant	18				behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding	g.chr16:8829602C>T	L32961	CCDS10534.1	16p13.2	2011-01-10			ENSG00000183044	ENSG00000183044	2.6.1.19		23	protein-coding gene	gene with protein product	"""4-aminobutyrate transaminase"""	137150				7721088	Standard	NM_020686		Approved	GABAT	uc002czc.4	P80404	OTTHUMG00000048201	ENST00000396600.2:c.6C>T	16.37:g.8829602C>T						ABAT_ENST00000569156.1_Silent_p.A2A|ABAT_ENST00000425191.2_Silent_p.A2A|ABAT_ENST00000567812.1_Silent_p.A17A|ABAT_ENST00000268251.8_Silent_p.A2A	p.A2A	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN			2	944	+			2					A8K386|Q16260|Q8N5W2|Q96BG2|Q99800	Silent	SNP	ENST00000396600.2	37	c.6C>T	CCDS10534.1																																																																																				0.592	ABAT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433620.2	NM_020686		3	12	0	0	0	1	0	3	12				
STXBP2	6813	broad.mit.edu	37	19	7709617	7709617	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr19:7709617C>T	ENST00000221283.5	+	14	1256	c.1225C>T	c.(1225-1227)Ctc>Ttc	p.L409F	STXBP2_ENST00000414284.2_Missense_Mutation_p.L406F|STXBP2_ENST00000602355.1_5'Flank|STXBP2_ENST00000441779.2_Missense_Mutation_p.L420F	NM_006949.2	NP_008880.2	Q15833	STXB2_HUMAN	syntaxin binding protein 2	409					leukocyte mediated cytotoxicity (GO:0001909)|neutrophil degranulation (GO:0043312)|protein transport (GO:0015031)|regulation of mast cell degranulation (GO:0043304)|vesicle docking involved in exocytosis (GO:0006904)	azurophil granule (GO:0042582)|cytolytic granule (GO:0044194)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin-3 binding (GO:0030348)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						GGTCCTGCTGCTCTACATCCT	0.622																																						ENST00000441779.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1258-1260)Ctc>Ttc		syntaxin binding protein 2							64.0	49.0	54.0					19																	7709617		2203	4299	6502	SO:0001583	missense	6813				leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding	g.chr19:7709617C>T	U63533	CCDS12181.1, CCDS45948.1, CCDS62522.1	19p13.3-p13.2	2014-09-17				ENSG00000076944			11445	protein-coding gene	gene with protein product		601717				8921365	Standard	NM_001127396		Approved	UNC18B, Hunc18b	uc010xjr.3	Q15833		ENST00000221283.5:c.1225C>T	19.37:g.7709617C>T	ENSP00000221283:p.Leu409Phe					STXBP2_ENST00000414284.2_Missense_Mutation_p.L406F|STXBP2_ENST00000221283.5_Missense_Mutation_p.L409F	p.L420F	NM_001272034.1	NP_001258963.1	Q15833	STXB2_HUMAN			14	1295	+			409					B4E175|E7EQD5|Q9BU65	Missense_Mutation	SNP	ENST00000221283.5	37	c.1258C>T	CCDS12181.1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.796174	0.50208	.	.	ENSG00000076944	ENST00000221283;ENST00000414284;ENST00000441779;ENST00000543902	D;D;D	0.83419	-1.72;-1.72;-1.72	4.02	4.02	0.46733	.	0.084250	0.47852	D	0.000213	D	0.89993	0.6876	M	0.85099	2.735	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.997;0.997;0.997;0.995;0.997	D	0.90202	0.4258	10	0.87932	D	0	-9.3634	7.4945	0.27481	0.0:0.8846:0.0:0.1154	.	420;420;375;406;409	E7EQD5;B4E175;B4DY46;Q15833-2;Q15833	.;.;.;.;STXB2_HUMAN	F	409;406;420;409	ENSP00000221283:L409F;ENSP00000409471:L406F;ENSP00000413606:L420F	ENSP00000221283:L409F	L	+	1	0	STXBP2	7615617	1.000000	0.71417	0.996000	0.52242	0.010000	0.07245	4.775000	0.62346	2.088000	0.63022	0.591000	0.81541	CTC		0.622	STXBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460963.1	NM_006949		11	46	0	0	0	1	0	11	46				
EFCAB13	124989	broad.mit.edu	37	17	45452136	45452136	+	Silent	SNP	A	A	G			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr17:45452136A>G	ENST00000331493.2	+	12	1587	c.1176A>G	c.(1174-1176)aaA>aaG	p.K392K	EFCAB13_ENST00000517484.1_Silent_p.K296K	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	392						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)										TAAACTTTAAAAAACATTCAG	0.363																																						ENST00000331493.2																			0											c.(1174-1176)aaA>aaG		EF-hand calcium binding domain 13							54.0	57.0	56.0					17																	45452136		2203	4300	6503	SO:0001819	synonymous_variant	124989							g.chr17:45452136A>G	BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"""EF-hand domain containing"""	26864	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 57"""	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.1176A>G	17.37:g.45452136A>G						EFCAB13_ENST00000517484.1_Silent_p.K296K	p.K392K	NM_152347.4	NP_689560.3					12	1587	+								G3V128|Q49AG9	Silent	SNP	ENST00000331493.2	37	c.1176A>G	CCDS11512.1																																																																																				0.363	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380147.4	NM_152347		10	19	0	0	0	1	0	10	19				
ZC4H2	55906	broad.mit.edu	37	X	64196279	64196279	+	De_novo_Start_OutOfFrame	SNP	G	G	A	rs201609507		TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chrX:64196279G>A	ENST00000374839.3	-	0	85				ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000337990.2_Intron|ZC4H2_ENST00000545618.1_De_novo_Start_InFrame|ZC4H2_ENST00000447788.2_De_novo_Start_OutOfFrame	NM_018684.3	NP_061154.1	Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing						nervous system development (GO:0007399)|neuromuscular junction development (GO:0007528)|spinal cord motor neuron differentiation (GO:0021522)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	metal ion binding (GO:0046872)			endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TCAATTTCACGTCCCGAGAGA	0.498																																						ENST00000374839.3																			0				endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24								zinc finger, C4H2 domain containing							201.0	156.0	171.0					X																	64196279		2203	4300	6503			55906						metal ion binding|protein binding	g.chrX:64196279G>A	AF270491	CCDS14380.1, CCDS55431.1, CCDS55432.1	Xq11.1	2013-07-23	2008-10-01	2008-10-01	ENSG00000126970	ENSG00000126970		"""Zinc fingers"""	24931	protein-coding gene	gene with protein product		300897	"""KIAA1166"", ""Wieacker-Wolff syndrome"""	KIAA1166, WWS		10574461, 12097419, 23623388	Standard	NM_018684		Approved	HCA127	uc004dvu.3	Q9NQZ6	OTTHUMG00000021712	ENST00000374839.3:c.-22C>T	X.37:g.64196279G>A						ZC4H2_ENST00000545618.1_De_novo_Start_InFrame|ZC4H2_ENST00000337990.2_Intron|ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000447788.2_De_novo_Start_OutOfFrame		NM_018684.3	NP_061154.1	Q9NQZ6	ZC4H2_HUMAN			0	85	-								B2RDC2|B3KVZ5|B4DED0|E7EM74|G3V1L3|Q53H73|Q5JTF9|Q9H9C3|Q9H9H7|Q9ULQ4	Translation_Start_Site	SNP	ENST00000374839.3	37		CCDS14380.1																																																																																				0.498	ZC4H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056958.1	NM_018684		15	111	0	0	0	1	0	15	111				
SMR3A	26952	broad.mit.edu	37	4	71232575	71232575	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr4:71232575A>T	ENST00000226460.4	+	3	365	c.269A>T	c.(268-270)cAa>cTa	p.Q90L		NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3A	90	Pro-rich.					extracellular region (GO:0005576)				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				GGGAGAATTCAATCACACTCT	0.537																																						ENST00000226460.4																			0				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15						c.(268-270)cAa>cTa		submaxillary gland androgen regulated protein 3A							178.0	158.0	165.0					4																	71232575		2203	4300	6503	SO:0001583	missense	26952					extracellular region		g.chr4:71232575A>T	D89501	CCDS34000.1	4q13.3	2009-04-17	2008-02-27	2005-02-07	ENSG00000109208	ENSG00000109208			19216	protein-coding gene	gene with protein product			"""proline rich 5 (salivary)"", ""submaxillary gland androgen regulated protein 3 homolog A (mouse)"""	PROL5		9354371, 17512016	Standard	NM_012390		Approved	PBI, PRL5	uc003hfg.1	Q99954	OTTHUMG00000160839	ENST00000226460.4:c.269A>T	4.37:g.71232575A>T	ENSP00000226460:p.Gln90Leu						p.Q90L	NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN			3	365	+		all_hematologic(202;0.196)	90			Pro-rich.			Missense_Mutation	SNP	ENST00000226460.4	37	c.269A>T	CCDS34000.1	.	.	.	.	.	.	.	.	.	.	A	3.190	-0.166034	0.06461	.	.	ENSG00000109208	ENST00000226460	T	0.27557	1.66	2.3	-2.54	0.06307	.	.	.	.	.	T	0.09642	0.0237	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31280	-0.9949	9	0.07813	T	0.8	.	0.3918	0.00412	0.2062:0.335:0.1935:0.2653	.	90	Q99954	SMR3A_HUMAN	L	90	ENSP00000226460:Q90L	ENSP00000226460:Q90L	Q	+	2	0	SMR3A	71267164	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.429000	0.06982	-0.647000	0.05444	-0.940000	0.02684	CAA		0.537	SMR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362574.1	NM_012390		42	89	0	0	0	1	0	42	89				
PKHD1	5314	broad.mit.edu	37	6	51890409	51890409	+	Missense_Mutation	SNP	G	G	A	rs191201723		TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr6:51890409G>A	ENST00000371117.3	-	32	4474	c.4199C>T	c.(4198-4200)tCg>tTg	p.S1400L	PKHD1_ENST00000340994.4_Missense_Mutation_p.S1400L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1400	IPT/TIG 9.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.S1400L(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ACCACATGCCGAACCCTGCGA	0.498													G|||	1	0.000199681	0.0008	0.0	5008	,	,		23496	0.0		0.0	False		,,,				2504	0.0					ENST00000371117.3																			1	Substitution - Missense(1)	p.S1400L(1)	large_intestine(1)	NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(4198-4200)tCg>tTg		polycystic kidney and hepatic disease 1 (autosomal recessive)		G	LEU/SER,LEU/SER	0,4406		0,0,2203	93.0	92.0	92.0		4199,4199	5.0	0.0	6		92	1,8599		0,1,4299	no	missense,missense	PKHD1	NM_138694.3,NM_170724.2	145,145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	1400/4075,1400/3397	51890409	1,13005	2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51890409G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.4199C>T	6.37:g.51890409G>A	ENSP00000360158:p.Ser1400Leu					PKHD1_ENST00000340994.4_Missense_Mutation_p.S1400L	p.S1400L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			32	4474	-	Lung NSC(77;0.0605)		1400			IPT/TIG 9.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.4199C>T	CCDS4935.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	11.03	1.517962	0.27211	0.0	1.16E-4	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	T;T	0.78364	-1.17;-1.17	5.87	5.01	0.66863	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.080418	0.53938	N	0.000042	T	0.68016	0.2955	M	0.81341	2.54	0.28731	N	0.902496	P;P	0.38504	0.495;0.634	B;B	0.35312	0.187;0.2	T	0.69254	-0.5193	10	0.87932	D	0	.	13.9069	0.63841	0.0726:0.0:0.9274:0.0	.	1400;1400	P08F94-2;P08F94	.;PKHD1_HUMAN	L	1400	ENSP00000360158:S1400L;ENSP00000341097:S1400L	ENSP00000341097:S1400L	S	-	2	0	PKHD1	51998368	0.994000	0.37717	0.030000	0.17652	0.003000	0.03518	3.692000	0.54727	1.489000	0.48450	0.655000	0.94253	TCG		0.498	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		29	92	0	0	0	1	0	29	92				
KDM2A	22992	broad.mit.edu	37	11	67021746	67021746	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr11:67021746C>T	ENST00000529006.2	+	20	3610	c.3164C>T	c.(3163-3165)aCg>aTg	p.T1055M	KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000308783.5_Missense_Mutation_p.T513M|KDM2A_ENST00000530342.1_Missense_Mutation_p.T616M|KDM2A_ENST00000398645.2_3'UTR	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	1055					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						ACAGATGCCACGCTTCGCCTC	0.557																																						ENST00000529006.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						c.(3163-3165)aCg>aTg		lysine (K)-specific demethylase 2A							111.0	108.0	109.0					11																	67021746		2190	4278	6468	SO:0001583	missense	22992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr11:67021746C>T	BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13606	protein-coding gene	gene with protein product	"""F-box protein FBL11"", ""jumonji C domain-containing histone demethylase 1A"""	605657	"""F-box and leucine-rich repeat protein 11"""	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.3164C>T	11.37:g.67021746C>T	ENSP00000432786:p.Thr1055Met					KDM2A_ENST00000530342.1_Missense_Mutation_p.T616M|KDM2A_ENST00000398645.2_3'UTR|KDM2A_ENST00000308783.5_Missense_Mutation_p.T513M|KDM2A_ENST00000526258.1_3'UTR	p.T1055M	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN			20	3610	+			1055					D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Missense_Mutation	SNP	ENST00000529006.2	37	c.3164C>T	CCDS44657.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.535633	0.85812	.	.	ENSG00000173120	ENST00000529006;ENST00000530342;ENST00000308783	T;T;T	0.38887	1.11;1.11;1.11	5.28	5.28	0.74379	.	0.110120	0.64402	D	0.000007	T	0.64951	0.2645	M	0.72353	2.195	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;P;D	0.69142	0.962;0.902;0.94	T	0.67106	-0.5754	10	0.72032	D	0.01	-11.105	19.0976	0.93258	0.0:1.0:0.0:0.0	.	616;513;1055	E9PIL6;D4QA03;Q9Y2K7	.;.;KDM2A_HUMAN	M	1055;616;513	ENSP00000432786:T1055M;ENSP00000435776:T616M;ENSP00000309302:T513M	ENSP00000309302:T513M	T	+	2	0	KDM2A	66778322	0.997000	0.39634	0.945000	0.38365	0.899000	0.52679	5.855000	0.69510	2.745000	0.94114	0.655000	0.94253	ACG		0.557	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2	NM_012308		23	53	0	0	0	1	0	23	53				
NGDN	25983	broad.mit.edu	37	14	23944385	23944385	+	Silent	SNP	C	C	T			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr14:23944385C>T	ENST00000408901.3	+	4	178	c.150C>T	c.(148-150)ctC>ctT	p.L50L	NGDN_ENST00000397154.3_Silent_p.L50L|NGDN_ENST00000556580.1_5'Flank	NM_001042635.1|NM_015514.1	NP_001036100.1|NP_056329.1	Q8NEJ9	NGDN_HUMAN	neuroguidin, EIF4E binding protein	50	Necessary for interaction with EIF4E. {ECO:0000250}.				regulation of translation (GO:0006417)	cell projection (GO:0042995)|chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	12	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		CTCAGGGTCTCAGCTTCTTGG	0.443																																						ENST00000397154.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	12						c.(148-150)ctC>ctT		neuroguidin, EIF4E binding protein							112.0	105.0	107.0					14																	23944385		2203	4300	6503	SO:0001819	synonymous_variant	25983				regulation of translation	axon|cytoplasm|dendrite|filopodium|nucleus		g.chr14:23944385C>T	AK022215	CCDS32051.1, CCDS41926.1	14q11.2	2014-06-13	2006-08-02	2006-08-02	ENSG00000129460	ENSG00000129460			20271	protein-coding gene	gene with protein product		610777	"""chromosome 14 open reading frame 120"""	C14orf120		16705177	Standard	NM_001042635		Approved	DKFZP564O092, LCP5, lpd-2, NGD	uc001wjy.3	Q8NEJ9	OTTHUMG00000171501	ENST00000408901.3:c.150C>T	14.37:g.23944385C>T						NGDN_ENST00000408901.3_Silent_p.L50L	p.L50L			Q8NEJ9	NGDN_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	4	163	+	all_cancers(95;0.000251)		50			Necessary for interaction with EIF4E (By similarity).		A8K760|Q9Y400	Silent	SNP	ENST00000408901.3	37	c.150C>T	CCDS41926.1	.	.	.	.	.	.	.	.	.	.	C	8.444	0.851522	0.17034	.	.	ENSG00000129460	ENST00000556483	.	.	.	5.99	2.38	0.29361	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-14.9136	8.2145	0.31503	0.0:0.6441:0.2151:0.1408	.	.	.	.	X	44	.	.	Q	+	1	0	NGDN	23014225	0.998000	0.40836	1.000000	0.80357	0.981000	0.71138	0.277000	0.18734	0.504000	0.28082	0.655000	0.94253	CAG		0.443	NGDN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000413782.3	NM_001042635		36	34	0	0	0	1	0	36	34				
OR8H3	390152	broad.mit.edu	37	11	55890275	55890275	+	Missense_Mutation	SNP	G	G	A	rs540879053		TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr11:55890275G>A	ENST00000313472.3	+	1	427	c.427G>A	c.(427-429)Gct>Act	p.A143T		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	143						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A143T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					GCTCTGCCTCGCTCTCATCAC	0.443																																						ENST00000313472.3																			1	Substitution - Missense(1)	p.A143T(1)	lung(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42						c.(427-429)Gct>Act		olfactory receptor, family 8, subfamily H, member 3							169.0	150.0	157.0					11																	55890275		2201	4296	6497	SO:0001583	missense	390152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55890275G>A	AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"""GPCR / Class A : Olfactory receptors"""	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.427G>A	11.37:g.55890275G>A	ENSP00000323928:p.Ala143Thr						p.A143T	NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN			1	427	+	Esophageal squamous(21;0.00693)		143					Q6IFB7	Missense_Mutation	SNP	ENST00000313472.3	37	c.427G>A	CCDS31519.1	.	.	.	.	.	.	.	.	.	.	G	0.215	-1.033329	0.02029	.	.	ENSG00000181761	ENST00000313472	T	0.00107	8.72	3.44	-2.75	0.05914	GPCR, rhodopsin-like superfamily (1);	1.327720	0.04831	N	0.438654	T	0.00073	0.0002	N	0.05487	-0.04	0.09310	N	1	B	0.21606	0.058	B	0.18263	0.021	T	0.06481	-1.0824	10	0.22706	T	0.39	.	0.8505	0.01171	0.1926:0.1659:0.1992:0.4424	.	143	Q8N146	OR8H3_HUMAN	T	143	ENSP00000323928:A143T	ENSP00000323928:A143T	A	+	1	0	OR8H3	55646851	0.000000	0.05858	0.001000	0.08648	0.091000	0.18340	-7.075000	0.00045	-0.280000	0.09154	0.173000	0.16961	GCT		0.443	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201		40	126	0	0	0	1	0	40	126				
PTPRD	5789	broad.mit.edu	37	9	8501020	8501020	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr9:8501020G>T	ENST00000381196.4	-	21	2405	c.1862C>A	c.(1861-1863)cCa>cAa	p.P621Q	PTPRD_ENST00000540109.1_Missense_Mutation_p.P621Q|PTPRD_ENST00000356435.5_Missense_Mutation_p.P621Q|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.P608Q|PTPRD_ENST00000358503.5_Missense_Mutation_p.P608Q|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000397617.3_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	621	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AGTGGAACTTGGGCTGGTGCA	0.433										TSP Lung(15;0.13)																												ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(1861-1863)cCa>cAa		protein tyrosine phosphatase, receptor type, D							112.0	104.0	107.0					9																	8501020		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8501020G>T	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.1862C>A	9.37:g.8501020G>T	ENSP00000370593:p.Pro621Gln	TSP Lung(15;0.13)				PTPRD_ENST00000540109.1_Missense_Mutation_p.P621Q|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000358503.5_Missense_Mutation_p.P608Q|PTPRD_ENST00000360074.4_Missense_Mutation_p.P608Q|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000356435.5_Missense_Mutation_p.P621Q|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000355233.5_Intron	p.P621Q	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	21	2405	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	621			Fibronectin type-III 4.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.1862C>A	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	G	6.549	0.469578	0.12461	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000540109	T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48	5.76	5.76	0.90799	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.180280	0.49916	D	0.000136	T	0.33411	0.0862	N	0.11560	0.145	0.42578	D	0.993204	B;B;B	0.13594	0.008;0.001;0.003	B;B;B	0.15870	0.012;0.003;0.014	T	0.17776	-1.0358	9	.	.	.	.	14.7591	0.69593	0.0:0.0:0.8555:0.1444	.	608;621;621	G3XAE2;Q2HXI4;P23468	.;.;PTPRD_HUMAN	Q	621;621;608;608;621	ENSP00000370593:P621Q;ENSP00000348812:P621Q;ENSP00000353187:P608Q;ENSP00000351293:P608Q;ENSP00000438164:P621Q	.	P	-	2	0	PTPRD	8491020	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.161000	0.71868	2.715000	0.92844	0.561000	0.74099	CCA		0.433	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			17	52	1	0	1.99824e-07	1	2.11242e-07	17	52				
OR1C1	26188	broad.mit.edu	37	1	247921375	247921375	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr1:247921375T>C	ENST00000408896.2	-	1	607	c.334A>G	c.(334-336)Agc>Ggc	p.S112G		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	112					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			AGAAGGAGGCTGTCCATATTC	0.478																																						ENST00000408896.2																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46						c.(334-336)Agc>Ggc		olfactory receptor, family 1, subfamily C, member 1							59.0	56.0	57.0					1																	247921375		1980	4152	6132	SO:0001583	missense	26188				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247921375T>C	X89674	CCDS41481.1	1q44	2012-08-09			ENSG00000221888	ENSG00000221888		"""GPCR / Class A : Olfactory receptors"""	8182	protein-coding gene	gene with protein product						9119360	Standard	NM_012353		Approved	TPCR27, HSTPCR27	uc010pza.2	Q15619	OTTHUMG00000040198	ENST00000408896.2:c.334A>G	1.37:g.247921375T>C	ENSP00000386138:p.Ser112Gly						p.S112G	NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	607	-	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	112					B9EIR9|Q5VVD2|Q6IF97|Q8NGZ1|Q96R83	Missense_Mutation	SNP	ENST00000408896.2	37	c.334A>G	CCDS41481.1	.	.	.	.	.	.	.	.	.	.	T	12.87	2.066929	0.36470	.	.	ENSG00000221888	ENST00000408896	T	0.01347	4.99	3.19	3.19	0.36642	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.03739	0.0106	L	0.45744	1.44	0.09310	N	1	D	0.61697	0.99	D	0.65573	0.936	T	0.45920	-0.9228	9	0.56958	D	0.05	.	2.9138	0.05745	0.3562:0.1169:0.0:0.5269	.	112	Q15619	OR1C1_HUMAN	G	112	ENSP00000386138:S112G	ENSP00000386138:S112G	S	-	1	0	OR1C1	245987998	0.000000	0.05858	1.000000	0.80357	0.937000	0.57800	-1.560000	0.02160	1.459000	0.47892	0.473000	0.43528	AGC		0.478	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096855.1			21	41	0	0	0	1	0	21	41				
DGKG	1608	broad.mit.edu	37	3	186006592	186006592	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr3:186006592A>G	ENST00000265022.3	-	6	990	c.451T>C	c.(451-453)Tct>Cct	p.S151P	DGKG_ENST00000382164.4_Missense_Mutation_p.S151P|DGKG_ENST00000544847.1_Missense_Mutation_p.S151P|DGKG_ENST00000344484.4_Missense_Mutation_p.S151P	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	151	Poly-Ser.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	GAGCTTGAAGACCGAGGGACG	0.547																																						ENST00000265022.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42						c.(451-453)Tct>Cct		diacylglycerol kinase, gamma 90kDa	Phosphatidylserine(DB00144)						137.0	151.0	146.0					3																	186006592		2203	4300	6503	SO:0001583	missense	1608				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr3:186006592A>G	AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"""EF-hand domain containing"""	2853	protein-coding gene	gene with protein product		601854	"""diacylglycerol kinase, gamma (90kD)"""	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.451T>C	3.37:g.186006592A>G	ENSP00000265022:p.Ser151Pro					DGKG_ENST00000382164.4_Missense_Mutation_p.S151P|DGKG_ENST00000544847.1_Missense_Mutation_p.S151P|DGKG_ENST00000344484.4_Missense_Mutation_p.S151P	p.S151P	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	6	990	-	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		151			Poly-Ser.		B2RAH4|Q2M1H4|Q5FWG1	Missense_Mutation	SNP	ENST00000265022.3	37	c.451T>C	CCDS3274.1	.	.	.	.	.	.	.	.	.	.	A	7.569	0.666306	0.14710	.	.	ENSG00000058866	ENST00000265022;ENST00000344484;ENST00000382164;ENST00000544847;ENST00000538691	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	5.74	0.67	0.17923	.	2.306020	0.01541	N	0.019244	T	0.35998	0.0951	L	0.38175	1.15	0.09310	N	1	B;B;B;B	0.06786	0.001;0.0;0.001;0.0	B;B;B;B	0.10450	0.005;0.001;0.005;0.001	T	0.07770	-1.0755	10	0.12766	T	0.61	.	5.02	0.14356	0.4515:0.1703:0.3783:0.0	.	151;151;151;151	F5GX27;P49619-2;P49619-3;P49619	.;.;.;DGKG_HUMAN	P	151;151;151;151;154	ENSP00000265022:S151P;ENSP00000339777:S151P;ENSP00000371599:S151P;ENSP00000440507:S151P	ENSP00000265022:S151P	S	-	1	0	DGKG	187489286	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.325000	0.07976	0.163000	0.19507	0.459000	0.35465	TCT		0.547	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344800.3			55	349	0	0	0	1	0	55	349				
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T	rs201788045		TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr18:14513764C>T	ENST00000358970.5	-	10	1429	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	477								p.R477Q(12)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358																																						ENST00000358970.5																			12	Substitution - Missense(12)	p.R477Q(12)	endometrium(4)|kidney(3)|urinary_tract(2)|prostate(2)|soft_tissue(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(1429-1431)cGg>cAg		POTE ankyrin domain family, member C							13.0	9.0	10.0					18																	14513764		683	1543	2226	SO:0001583	missense	388468							g.chr18:14513764C>T	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.1430G>A	18.37:g.14513764C>T	ENSP00000351856:p.Arg477Gln						p.R477Q	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			10	1429	-			477						Missense_Mutation	SNP	ENST00000358970.5	37	c.1430G>A	CCDS45835.1	492	0.22527472527472528	61	0.12398373983739837	82	0.2265193370165746	187	0.3269230769230769	162	0.21372031662269128	c	0.001	-3.539655	0.00009	.	.	ENSG00000183206	ENST00000358970	T	0.20881	2.04	1.34	0.0657	0.14358	.	.	.	.	.	T	0.00012	0.0000	N	0.00116	-2.08	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42430	-0.9452	9	0.06757	T	0.87	.	3.4153	0.07373	0.0:0.2473:0.0:0.7527	.	477	B2RU33	POTEC_HUMAN	Q	477	ENSP00000351856:R477Q	ENSP00000351856:R477Q	R	-	2	0	POTEC	14503764	0.885000	0.30320	0.063000	0.19743	0.005000	0.04900	1.581000	0.36558	0.005000	0.14708	-1.615000	0.00797	CGG		0.358	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		3	31	0	0	0	1	0	3	31				
ASTN2	23245	broad.mit.edu	37	9	119770528	119770528	+	Silent	SNP	G	G	A	rs201483760		TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr9:119770528G>A	ENST00000313400.4	-	7	1534	c.1434C>T	c.(1432-1434)ttC>ttT	p.F478F	ASTN2_ENST00000361209.2_Silent_p.F427F|ASTN2_ENST00000373996.3_Silent_p.F478F|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	478					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CACTCACCACGAAGCTGCTTC	0.502													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21476	0.0		0.0	False		,,,				2504	0.0					ENST00000313400.4																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						c.(1432-1434)ttC>ttT		astrotactin 2							95.0	80.0	85.0					9																	119770528		2203	4300	6503	SO:0001819	synonymous_variant	23245					integral to membrane		g.chr9:119770528G>A	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.1434C>T	9.37:g.119770528G>A						ASTN2_ENST00000373996.3_Silent_p.F478F|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Silent_p.F427F	p.F478F			O75129	ASTN2_HUMAN			7	1534	-			478					A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Silent	SNP	ENST00000313400.4	37	c.1434C>T																																																																																					0.502	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		18	47	0	0	0	1	0	18	47				
IFNL3	282617	broad.mit.edu	37	19	39735521	39735521	+	Silent	SNP	C	C	G	rs369774544		TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr19:39735521C>G	ENST00000413851.2	-	1	125	c.87G>C	c.(85-87)ggG>ggC	p.G29G	IFNL4_ENST00000606380.1_RNA	NM_172139.2	NP_742151.2	Q8IZI9	IFNL3_HUMAN	interferon, lambda 3	29					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|negative regulation of viral genome replication (GO:0045071)|positive regulation of immune response (GO:0050778)	extracellular space (GO:0005615)											CCGGGAGAGCCCCGCGGAGCC	0.612																																						ENST00000413851.2																			0											c.(85-87)ggG>ggC		interferon, lambda 3							58.0	54.0	55.0					19																	39735521		2203	4300	6503	SO:0001819	synonymous_variant	282617							g.chr19:39735521C>G	AY129149	CCDS12530.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000197110	ENSG00000197110		"""Interferons"""	18365	protein-coding gene	gene with protein product		607402	"""interleukin 28B"", ""interleukin 28B (interferon, lambda 3)"""	IL28B			Standard	NM_172139		Approved	IL-28B, IL28C	uc010xut.2	Q8IZI9	OTTHUMG00000182805	ENST00000413851.2:c.87G>C	19.37:g.39735521C>G							p.G29G	NM_172139.2	NP_742151.2					1	125	-								A2BDE1|Q6VN56|Q7Z4J3|Q8IWL6	Silent	SNP	ENST00000413851.2	37	c.87G>C	CCDS12530.1																																																																																				0.612	IFNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463832.1	NM_172139		16	56	0	0	0	1	0	16	56				
ADCY9	115	broad.mit.edu	37	16	4016050	4016050	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr16:4016050C>T	ENST00000294016.3	-	11	4326	c.3788G>A	c.(3787-3789)cGc>cAc	p.R1263H		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	1263					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CACCTGGACGCGGATGTCTGG	0.562																																						ENST00000294016.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(3787-3789)cGc>cAc		adenylate cyclase 9							156.0	126.0	136.0					16																	4016050		2197	4300	6497	SO:0001583	missense	115				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4016050C>T	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.3788G>A	16.37:g.4016050C>T	ENSP00000294016:p.Arg1263His						p.R1263H	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN			11	4326	-			1263	QHQLSISPDIRVQVDGSIGRSPTDEIANLVPSVQYVDKTSL GSDSSTQAKDAHLSPKRPWKEPVKAEERGRFGKAIEKDDCD ETGIEEANELTKLNVSKSV -> APAVHLPRHPRPGGWQHR TVSHRRDCQPGAFCPVCGQDISGF (in Ref. 1; AAC24201).				A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	37	c.3788G>A	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.180707	0.78677	.	.	ENSG00000162104	ENST00000294016	D	0.84146	-1.81	5.77	5.77	0.91146	.	0.051702	0.85682	D	0.000000	T	0.77253	0.4103	L	0.32530	0.975	0.54753	D	0.999982	P	0.43231	0.801	B	0.27500	0.08	T	0.80507	-0.1352	10	0.59425	D	0.04	.	20.3473	0.98799	0.0:1.0:0.0:0.0	.	1263	O60503	ADCY9_HUMAN	H	1263	ENSP00000294016:R1263H	ENSP00000294016:R1263H	R	-	2	0	ADCY9	3956051	1.000000	0.71417	0.980000	0.43619	0.984000	0.73092	4.729000	0.62008	2.884000	0.98904	0.655000	0.94253	CGC		0.562	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			15	51	0	0	0	1	0	15	51				
STAC	6769	broad.mit.edu	37	3	36527664	36527664	+	Missense_Mutation	SNP	C	C	T	rs557489939		TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr3:36527664C>T	ENST00000273183.3	+	5	910	c.610C>T	c.(610-612)Cgc>Tgc	p.R204C	STAC_ENST00000476388.1_3'UTR|STAC_ENST00000457375.2_Missense_Mutation_p.R143C	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	204					cellular response to heat (GO:0034605)|intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytosol (GO:0005829)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						CGAGACCCTCCGCTTCGGCAC	0.557																																						ENST00000273183.3																			0				endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						c.(610-612)Cgc>Tgc		SH3 and cysteine rich domain							152.0	156.0	155.0					3																	36527664		2203	4300	6503	SO:0001583	missense	6769				intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding	g.chr3:36527664C>T	D86640	CCDS2662.1	3p22.3	2007-06-08			ENSG00000144681	ENSG00000144681			11353	protein-coding gene	gene with protein product		602317	"""src homology three (SH3) and cysteine rich domain"""			8954993, 10393425	Standard	XM_006713308		Approved	STAC1	uc003cgh.1	Q99469	OTTHUMG00000130798	ENST00000273183.3:c.610C>T	3.37:g.36527664C>T	ENSP00000273183:p.Arg204Cys					STAC_ENST00000476388.1_3'UTR|STAC_ENST00000457375.2_Missense_Mutation_p.R143C	p.R204C	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN			5	910	+			204					B2R8S8	Missense_Mutation	SNP	ENST00000273183.3	37	c.610C>T	CCDS2662.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.148428	0.78001	.	.	ENSG00000144681	ENST00000273183;ENST00000457375;ENST00000544687;ENST00000434649	D;T;T	0.82711	-1.64;0.67;0.16	5.25	5.25	0.73442	.	0.052198	0.64402	D	0.000001	D	0.88764	0.6525	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71656	0.974;0.926	D	0.89566	0.3810	10	0.87932	D	0	.	16.1541	0.81644	0.0:1.0:0.0:0.0	.	143;204	E9PEA7;Q99469	.;STAC_HUMAN	C	204;143;136;132	ENSP00000273183:R204C;ENSP00000393713:R143C;ENSP00000398403:R132C	ENSP00000273183:R204C	R	+	1	0	STAC	36502668	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.258000	0.58822	2.630000	0.89119	0.655000	0.94253	CGC		0.557	STAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253338.2	NM_003149		52	158	0	0	0	1	0	52	158				
BAGE2	85319	broad.mit.edu	37	21	11058322	11058322	+	RNA	SNP	C	C	T			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr21:11058322C>T	ENST00000470054.1	-	0	325							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAATGCACATCGCTGAAAGGG	0.383																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							92.0	70.0	77.0					21																	11058322		692	1591	2283			85319							g.chr21:11058322C>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058322C>T												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	325	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.383	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		5	121	0	0	0	1	0	5	121				
CPSF7	79869	broad.mit.edu	37	11	61183827	61183827	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr11:61183827G>A	ENST00000394888.4	-	6	887	c.715C>T	c.(715-717)Cca>Tca	p.P239S	CPSF7_ENST00000448745.1_Missense_Mutation_p.P230S|CPSF7_ENST00000439958.3_Missense_Mutation_p.P230S|CPSF7_ENST00000340437.4_Missense_Mutation_p.P282S	NM_001136040.2	NP_001129512.1	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	239	Pro-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						ATTGGTGGTGGGGGCAGACCC	0.602																																						ENST00000340437.4																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						c.(844-846)Cca>Tca		cleavage and polyadenylation specific factor 7, 59kDa							61.0	64.0	63.0					11																	61183827		2202	4299	6501	SO:0001583	missense	79869				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding	g.chr11:61183827G>A		CCDS8006.2, CCDS44619.1, CCDS44620.1	11q12.2	2013-06-18			ENSG00000149532	ENSG00000149532		"""RNA binding motif (RRM) containing"""	30098	protein-coding gene	gene with protein product	"""pre mRNA cleavage factor I, 59 kDa subunit"", ""cleavage factor Im complex 59 kDa subunit"""					12477932	Standard	NM_024811		Approved	FLJ12529	uc001nrp.3	Q8N684	OTTHUMG00000168198	ENST00000394888.4:c.715C>T	11.37:g.61183827G>A	ENSP00000378352:p.Pro239Ser					CPSF7_ENST00000439958.3_Missense_Mutation_p.P230S|CPSF7_ENST00000394888.4_Missense_Mutation_p.P239S|CPSF7_ENST00000448745.1_Missense_Mutation_p.P230S	p.P282S	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN			6	924	-			239			Pro-rich.		B3KU04|C9K0Q4|Q7Z3H9|Q9H025|Q9H9V1	Missense_Mutation	SNP	ENST00000394888.4	37	c.844C>T	CCDS44619.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.277011	0.80580	.	.	ENSG00000149532	ENST00000340437;ENST00000394888;ENST00000439958;ENST00000448745;ENST00000544147;ENST00000539952	.	.	.	5.76	5.76	0.90799	.	0.444670	0.24409	N	0.038771	T	0.49457	0.1558	L	0.52573	1.65	0.80722	D	1	P;B;P;B	0.41232	0.743;0.198;0.557;0.299	B;B;B;B	0.36092	0.097;0.108;0.217;0.217	T	0.44877	-0.9299	9	0.21540	T	0.41	-2.4393	14.4303	0.67246	0.0:0.0:0.8525:0.1475	.	230;239;282;230	B4DGF8;Q8N684;Q8N684-3;Q8N684-2	.;CPSF7_HUMAN;.;.	S	282;239;230;230;5;230	.	ENSP00000345412:P282S	P	-	1	0	CPSF7	60940403	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.267000	0.72546	2.718000	0.92993	0.650000	0.86243	CCA		0.602	CPSF7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347835.2	NM_024811		31	72	0	0	0	1	0	31	72				
KCNC2	3747	broad.mit.edu	37	12	75436120	75436120	+	3'UTR	SNP	C	C	T			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr12:75436120C>T	ENST00000549446.1	-	0	3362				KCNC2_ENST00000548513.1_Silent_p.T605T|KCNC2_ENST00000350228.2_Silent_p.T550T|KCNC2_ENST00000550433.1_Intron|KCNC2_ENST00000341669.3_Intron|RP11-81K13.1_ENST00000547040.1_RNA|RP11-81K13.1_ENST00000549762.1_RNA|RP11-81K13.1_ENST00000550049.1_RNA|KCNC2_ENST00000298972.1_Silent_p.T605T	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2						action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	CCTCGGCTTGCGTGTAACCAG	0.418																																						ENST00000298972.1																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						c.(1813-1815)acG>acA		potassium voltage-gated channel, Shaw-related subfamily, member 2							135.0	108.0	117.0					12																	75436120		2203	4300	6503	SO:0001624	3_prime_UTR_variant	3747				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:75436120C>T	AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.*765G>A	12.37:g.75436120C>T						KCNC2_ENST00000550433.1_Intron|RP11-81K13.1_ENST00000550049.1_RNA|KCNC2_ENST00000341669.3_Intron|KCNC2_ENST00000549446.1_3'UTR|RP11-81K13.1_ENST00000547040.1_RNA|KCNC2_ENST00000548513.1_Silent_p.T605T|KCNC2_ENST00000350228.2_Silent_p.T550T	p.T605T	NM_139136.3	NP_631874.1	Q96PR1	KCNC2_HUMAN			5	2358	-			0					B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Silent	SNP	ENST00000549446.1	37	c.1815G>A	CCDS9007.1																																																																																				0.418	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405581.2	NM_153748		12	26	0	0	0	1	0	12	26				
CEACAM6	4680	broad.mit.edu	37	19	42260787	42260787	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr19:42260787A>G	ENST00000199764.6	+	2	562	c.344A>G	c.(343-345)aAt>aGt	p.N115S	AC011513.4_ENST00000601409.1_RNA|CEA_ENST00000598976.1_Intron	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	115	Ig-like V-type.				cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		GTCACCCAGAATGACACAGGA	0.463																																						ENST00000199764.6																			0				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18						c.(343-345)aAt>aGt		carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)							302.0	293.0	296.0					19																	42260787		2203	4300	6503	SO:0001583	missense	4680				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane		g.chr19:42260787A>G	M29541	CCDS12585.1	19q13.1-q13.2	2013-01-29			ENSG00000086548	ENSG00000086548		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1818	protein-coding gene	gene with protein product		163980		NCA			Standard	NM_002483		Approved	CD66c	uc002orm.2	P40199	OTTHUMG00000151064	ENST00000199764.6:c.344A>G	19.37:g.42260787A>G	ENSP00000199764:p.Asn115Ser					CEA_ENST00000598976.1_Intron	p.N115S	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)	2	562	+			115			Ig-like V-type.		Q13774|Q14920|Q53XP7	Missense_Mutation	SNP	ENST00000199764.6	37	c.344A>G	CCDS12585.1	.	.	.	.	.	.	.	.	.	.	A	10.77	1.444629	0.25987	.	.	ENSG00000086548	ENST00000199764	T	0.61742	0.08	2.55	1.45	0.22620	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.50973	0.1647	L	0.41492	1.28	0.09310	N	1	B	0.26483	0.15	B	0.39590	0.304	T	0.50825	-0.8782	9	0.39692	T	0.17	.	5.7446	0.18112	0.7241:0.2759:0.0:0.0	.	115	P40199	CEAM6_HUMAN	S	115	ENSP00000199764:N115S	ENSP00000199764:N115S	N	+	2	0	CEACAM6	46952627	0.000000	0.05858	0.000000	0.03702	0.253000	0.25986	-0.123000	0.10611	0.031000	0.15407	0.254000	0.18369	AAT		0.463	CEACAM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321147.1			19	315	0	0	0	1	0	19	315				
RHCE	6006	broad.mit.edu	37	1	25701870	25701870	+	Missense_Mutation	SNP	C	C	T	rs147526117		TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr1:25701870C>T	ENST00000294413.7	-	8	1181	c.1123G>A	c.(1123-1125)Gtg>Atg	p.V375M	RHCE_ENST00000243186.6_Intron|RHCE_ENST00000374352.2_Missense_Mutation_p.V359M|RHCE_ENST00000349438.4_Missense_Mutation_p.R330H|RHCE_ENST00000346452.4_Missense_Mutation_p.V224M|RHCE_ENST00000425135.1_Missense_Mutation_p.R284H|RHCE_ENST00000455194.1_Missense_Mutation_p.V270M|RHCE_ENST00000340849.4_Intron|RHCE_ENST00000349320.3_Missense_Mutation_p.V359M|RHCE_ENST00000413854.1_Intron	NM_020485.4	NP_065231	P18577	RHCE_HUMAN	Rh blood group, CcEe antigens	375						integral component of plasma membrane (GO:0005887)	ammonium transmembrane transporter activity (GO:0008519)			endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		AGAGCTATCACGATGGCCAAG	0.577													C|||	1	0.000199681	0.0008	0.0	5008	,	,		30671	0.0		0.0	False		,,,				2504	0.0					ENST00000349320.3																			0				endometrium(8)|large_intestine(6)|lung(3)	17						c.(1075-1077)Gtg>Atg		Rh blood group, CcEe antigens		T	MET/VAL,MET/VAL,,HIS/ARG	0,4404		0,0,2202	366.0	290.0	316.0		1123,670,,989	0.8	0.0	1	dbSNP_134	316	2,8596		0,2,4297	no	missense,missense,intron,missense	RHCE	NM_020485.4,NM_138616.3,NM_138617.3,NM_138618.3	21,21,,29	0,2,6499	TT,TC,CC		0.0233,0.0,0.0154	benign,benign,,benign	375/418,224/267,,330/355	25701870	2,13000	2202	4299	6501	SO:0001583	missense	6006					integral to plasma membrane		g.chr1:25701870C>T	BC075081	CCDS30634.1, CCDS30635.1, CCDS30636.1, CCDS30637.1	1p36.11	2014-09-17	2006-02-23		ENSG00000188672	ENSG00000188672		"""CD molecules"", ""Blood group antigens"""	10008	protein-coding gene	gene with protein product		111700	"""Rhesus blood group, CcEe antigens"""	RH		8220426	Standard	NM_138618		Approved	CD240CE	uc001bkf.3	P18577	OTTHUMG00000007650	ENST00000294413.7:c.1123G>A	1.37:g.25701870C>T	ENSP00000294413:p.Val375Met					RHCE_ENST00000425135.1_Missense_Mutation_p.R284H|RHCE_ENST00000413854.1_Intron|RHCE_ENST00000374352.2_Missense_Mutation_p.V359M|RHCE_ENST00000349438.4_Missense_Mutation_p.R330H|RHCE_ENST00000346452.4_Missense_Mutation_p.V224M|RHCE_ENST00000340849.4_Intron|RHCE_ENST00000294413.7_Missense_Mutation_p.V375M|RHCE_ENST00000243186.6_Intron|RHCE_ENST00000455194.1_Missense_Mutation_p.V270M	p.V359M			P18577	RHCE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)	10	1463	-		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	375					A7DW68|B7UDF3|B7UDF4|B7UDF5|B7UDF6|B7UDF7|B7UDF8|B7UDF9|B7UDG0|B7UDG1|B7UDG2|B7UDG3|Q02163|Q02164|Q02165|Q16160|Q2MJW0|Q2VC86|Q3LTM6|Q6AZX5|Q6J2U3|Q7RU06|Q8IZT2|Q8IZT3|Q8IZT4|Q8IZT5|Q9UD13|Q9UD14|Q9UD15|Q9UD16|Q9UD73|Q9UD74|Q9UEC2|Q9UEC3|Q9UPN0	Missense_Mutation	SNP	ENST00000294413.7	37	c.1075G>A	CCDS30635.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	N|N	13.60|13.60	2.286598|2.286598	0.40494|0.40494	0.0|0.0	2.33E-4|2.33E-4	ENSG00000188672|ENSG00000188672	ENST00000425135;ENST00000447203;ENST00000349438|ENST00000539650;ENST00000455194;ENST00000374352;ENST00000349320;ENST00000527747;ENST00000346452;ENST00000294413	T;T|T;T;T;T;T	0.27104|0.25912	2.07;1.69|1.77;1.77;1.77;2.38;1.77	4.87|4.87	0.814|0.814	0.18756|0.18756	.|Ammonium transporter AmtB-like (3);	.|0.891618	.|0.09729	.|N	.|0.763434	T|T	0.37625|0.37625	0.1010|0.1010	L|L	0.55990|0.55990	1.75|1.75	0.09310|0.09310	N|N	1|1	B|D;P;D	0.02656|0.61697	0.0|0.984;0.796;0.99	B|P;B;P	0.01281|0.61201	0.0|0.738;0.215;0.885	T|T	0.18903|0.18903	-1.0322|-1.0322	9|10	0.02654|0.87932	T|D	1|0	0.2706|0.2706	5.069|5.069	0.14596|0.14596	0.1532:0.6335:0.0:0.2132|0.1532:0.6335:0.0:0.2132	.|.	330|359;224;375	Q5VSJ8|Q5VSJ9;E7EQ47;P18577	.|.;.;RHCE_HUMAN	H|M	284;374;330|304;270;359;359;53;224;375	ENSP00000392809:R284H;ENSP00000334570:R330H|ENSP00000416275:V270M;ENSP00000363472:V359M;ENSP00000311185:V359M;ENSP00000344485:V224M;ENSP00000294413:V375M	ENSP00000334570:R330H|ENSP00000294413:V375M	R|V	-|-	2|1	0|0	RHCE|RHCE	25574457|25574457	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-0.062000|-0.062000	0.11674|0.11674	-0.034000|-0.034000	0.13713|0.13713	0.650000|0.650000	0.86243|0.86243	CGT|GTG		0.577	RHCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020312.2	NM_020485		26	175	0	0	0	1	0	26	175				
UBR3	130507	broad.mit.edu	37	2	170936339	170936339	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr2:170936339G>A	ENST00000272793.5	+	37	5265	c.5215G>A	c.(5215-5217)Gag>Aag	p.E1739K	UBR3_ENST00000392631.1_Missense_Mutation_p.E560K|UBR3_ENST00000418381.1_Missense_Mutation_p.E1739K			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1739					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						GCTTATCCAAGAGTCAAAATG	0.308																																						ENST00000272793.5																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						c.(5215-5217)Gag>Aag		ubiquitin protein ligase E3 component n-recognin 3 (putative)							72.0	68.0	69.0					2																	170936339		2203	4300	6503	SO:0001583	missense	130507				sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:170936339G>A	AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"""Ubiquitin protein ligase E3 component n-recognins"""	30467	protein-coding gene	gene with protein product		613831	"""zinc finger protein 650"""	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.5215G>A	2.37:g.170936339G>A	ENSP00000272793:p.Glu1739Lys					UBR3_ENST00000392631.1_Missense_Mutation_p.E560K|UBR3_ENST00000418381.1_Missense_Mutation_p.E1739K	p.E1739K			Q6ZT12	UBR3_HUMAN			37	5265	+			1739					B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Missense_Mutation	SNP	ENST00000272793.5	37	c.5215G>A		.	.	.	.	.	.	.	.	.	.	G	20.2	3.958337	0.73902	.	.	ENSG00000144357	ENST00000272793;ENST00000442603;ENST00000418381;ENST00000392631;ENST00000439681	T;T;T;T	0.39056	1.1;1.1;1.1;1.1	5.52	5.52	0.82312	.	0.145674	0.64402	D	0.000009	T	0.36193	0.0958	L	0.29908	0.895	0.47547	D	0.999459	B;P;D	0.58268	0.319;0.72;0.982	B;B;P	0.46718	0.055;0.35;0.525	T	0.11494	-1.0585	10	0.05721	T	0.95	.	19.4363	0.94796	0.0:0.0:1.0:0.0	.	1739;560;1768	Q6ZT12;Q6ZT12-2;E7EVK3	UBR3_HUMAN;.;.	K	1739;1768;1739;560;439	ENSP00000272793:E1739K;ENSP00000396068:E1739K;ENSP00000376408:E560K;ENSP00000389097:E439K	ENSP00000272793:E1739K	E	+	1	0	UBR3	170644585	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.628000	0.83189	2.591000	0.87537	0.650000	0.86243	GAG		0.308	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	NM_172070		4	43	0	0	0	1	0	4	43				
BCORL1	63035	broad.mit.edu	37	X	129190058	129190058	+	Missense_Mutation	SNP	G	G	A	rs376355190		TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chrX:129190058G>A	ENST00000218147.7	+	13	5280	c.5083G>A	c.(5083-5085)Gac>Aac	p.D1695N	BCORL1_ENST00000540052.1_Missense_Mutation_p.D1695N|BCORL1_ENST00000359304.2_Missense_Mutation_p.D1565N|BCORL1_ENST00000303743.5_Missense_Mutation_p.D1769N			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1695					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GTACGAGCCAGACCTACTTCG	0.607																																						ENST00000540052.1																			0				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(5083-5085)Gac>Aac		BCL6 corepressor-like 1							37.0	36.0	36.0					X																	129190058		2203	4300	6503	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129190058G>A	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.5083G>A	X.37:g.129190058G>A	ENSP00000218147:p.Asp1695Asn					BCORL1_ENST00000303743.5_Missense_Mutation_p.D1769N|BCORL1_ENST00000359304.2_Missense_Mutation_p.D1565N|BCORL1_ENST00000218147.7_Missense_Mutation_p.D1695N	p.D1695N	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN			12	5127	+			1695					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.5083G>A	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	g	19.91	3.915152	0.73098	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822	T;T;T;T;T	0.39406	1.08;1.45;1.09;1.08;1.5	4.85	4.85	0.62838	.	0.227351	0.22408	N	0.060454	T	0.25644	0.0624	N	0.08118	0	0.38550	D	0.949442	P;B	0.41848	0.763;0.354	B;B	0.35770	0.21;0.179	T	0.38265	-0.9669	10	0.87932	D	0	-7.3912	17.1749	0.86839	0.0:0.0:1.0:0.0	.	1769;1695	Q5H9F3-3;Q5H9F3	.;BCORL_HUMAN	N	1695;1769;1565;1695;1369	ENSP00000218147:D1695N;ENSP00000307541:D1769N;ENSP00000352253:D1565N;ENSP00000437775:D1695N;ENSP00000399483:D1369N	ENSP00000218147:D1695N	D	+	1	0	BCORL1	129017739	1.000000	0.71417	0.645000	0.29479	0.898000	0.52572	8.805000	0.91925	2.235000	0.73313	0.509000	0.49947	GAC		0.607	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		8	57	0	0	0	1	0	8	57				
CDH10	1008	broad.mit.edu	37	5	24511440	24511440	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr5:24511440T>C	ENST00000264463.4	-	6	1505	c.998A>G	c.(997-999)aAa>aGa	p.K333R		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	333	Cadherin 3. {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)		GTGCACCTTTTTCACAGTGAT	0.393										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.(997-999)aAa>aGa		cadherin 10, type 2 (T2-cadherin)							221.0	177.0	192.0					5																	24511440		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24511440T>C	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.998A>G	5.37:g.24511440T>C	ENSP00000264463:p.Lys333Arg	HNSCC(23;0.051)					p.K333R	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	6	1505	-			333			Cadherin 3.		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.998A>G	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	T	11.63	1.697327	0.30142	.	.	ENSG00000040731	ENST00000264463	T	0.01745	4.66	5.22	4.08	0.47627	Cadherin (5);Cadherin-like (1);	0.218218	0.46145	D	0.000307	T	0.01940	0.0061	L	0.45470	1.425	0.27675	N	0.946644	B	0.11235	0.004	B	0.25614	0.062	T	0.39396	-0.9616	10	0.26408	T	0.33	.	3.6456	0.08184	0.0:0.2268:0.0:0.7732	.	333	Q9Y6N8	CAD10_HUMAN	R	333	ENSP00000264463:K333R	ENSP00000264463:K333R	K	-	2	0	CDH10	24547197	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	1.759000	0.38420	1.951000	0.56629	0.528000	0.53228	AAA		0.393	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		7	82	0	0	0	1	0	7	82				
CEP68	23177	broad.mit.edu	37	2	65300090	65300090	+	Silent	SNP	A	A	G			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr2:65300090A>G	ENST00000377990.2	+	3	2063	c.1860A>G	c.(1858-1860)aaA>aaG	p.K620K	CEP68_ENST00000546106.1_Silent_p.K620K|CEP68_ENST00000537589.1_Silent_p.K232K|CEP68_ENST00000260569.4_Intron|RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000497039.1_3'UTR	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	620					centriole-centriole cohesion (GO:0010457)|centrosome organization (GO:0051297)|protein localization to organelle (GO:0033365)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						AACAGGGAAAAGAATCACTGG	0.488																																						ENST00000377990.2																			0				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(1858-1860)aaA>aaG		centrosomal protein 68kDa							80.0	85.0	84.0					2																	65300090		2011	4181	6192	SO:0001819	synonymous_variant	23177				centrosome organization	centrosome		g.chr2:65300090A>G	BC004873	CCDS1880.2	2p14	2014-02-20	2005-12-01	2005-12-01	ENSG00000011523	ENSG00000011523			29076	protein-coding gene	gene with protein product			"""KIAA0582"""	KIAA0582		9628581, 9847074, 14654843	Standard	NM_015147		Approved		uc002sdl.4	Q76N32	OTTHUMG00000129538	ENST00000377990.2:c.1860A>G	2.37:g.65300090A>G						CEP68_ENST00000537589.1_Silent_p.K232K|CEP68_ENST00000546106.1_Silent_p.K620K|RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000497039.1_3'UTR|CEP68_ENST00000260569.4_Intron	p.K620K	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN			3	2063	+			620					B4DRQ1|D6W5F1|D6W5F2|O60326|Q9BQ18|Q9UDM9	Silent	SNP	ENST00000377990.2	37	c.1860A>G	CCDS1880.2																																																																																				0.488	CEP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251727.2	NM_015147		33	56	0	0	0	1	0	33	56				
LRRC37A16P	651250	broad.mit.edu	37	17	66131561	66131561	+	RNA	SNP	G	G	A	rs7225912	byFrequency	TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr17:66131561G>A	ENST00000590019.1	-	0	298									leucine rich repeat containing 37, member A16, pseudogene																		AGCCTGCGAGGCTGGGTTGGG	0.602													G|||	1675	0.334465	0.4183	0.147	5008	,	,		15940	0.625		0.1799	False		,,,				2504	0.2137					ENST00000590019.1																			0																																																			651250							g.chr17:66131561G>A			17q24.2	2012-10-18				ENSG00000267023			43820	pseudogene	pseudogene							Standard	NG_023507		Approved				OTTHUMG00000180160		17.37:g.66131561G>A														0	298	-									RNA	SNP	ENST00000590019.1	37																																																																																						0.602	LRRC37A16P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000450078.1			3	24	0	0	0	1	0	3	24				
KIAA0408	9729	broad.mit.edu	37	6	127768852	127768852	+	Silent	SNP	T	T	C			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr6:127768852T>C	ENST00000483725.3	-	5	948	c.612A>G	c.(610-612)ccA>ccG	p.P204P	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	204										endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		TAGTTACATTTGGCATTTCCT	0.338																																						ENST00000483725.3																			0				endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28						c.(610-612)ccA>ccG		KIAA0408							40.0	43.0	42.0					6																	127768852		2180	4239	6419	SO:0001819	synonymous_variant	9729						protein binding	g.chr6:127768852T>C	AB007868	CCDS34531.1	6q22.33	2012-11-29			ENSG00000189367	ENSG00000189367			21636	protein-coding gene	gene with protein product							Standard	NM_014702		Approved		uc011ebs.2	Q6ZU52	OTTHUMG00000166439	ENST00000483725.3:c.612A>G	6.37:g.127768852T>C						SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	p.P204P	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN		GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)	5	948	-			204					B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2	Silent	SNP	ENST00000483725.3	37	c.612A>G	CCDS34531.1																																																																																				0.338	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042145.3	NM_014702		4	30	0	0	0	1	0	4	30				
TENM3	55714	broad.mit.edu	37	4	183549836	183549836	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr4:183549836C>A	ENST00000511685.1	+	5	905	c.782C>A	c.(781-783)aCg>aAg	p.T261K	TENM3_ENST00000406950.2_Missense_Mutation_p.T261K|RN7SKP67_ENST00000515905.1_RNA			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	261	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										ACAGGTACAACGCCACTGTTC	0.423																																						ENST00000511685.1																			0											c.(781-783)aCg>aAg		teneurin transmembrane protein 3							45.0	44.0	44.0					4																	183549836		1984	4167	6151	SO:0001583	missense	55714							g.chr4:183549836C>A	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.782C>A	4.37:g.183549836C>A	ENSP00000424226:p.Thr261Lys					TENM3_ENST00000406950.2_Missense_Mutation_p.T261K	p.T261K							5	905	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.782C>A	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	C	33	5.261680	0.95368	.	.	ENSG00000218336	ENST00000511685;ENST00000406950;ENST00000510504	T;T;T	0.32272	1.46;1.46;1.46	5.3	5.3	0.74995	Teneurin intracellular, N-terminal (2);	.	.	.	.	T	0.54615	0.1869	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.56727	-0.7931	9	0.87932	D	0	.	18.9557	0.92658	0.0:1.0:0.0:0.0	.	261	Q9P273	TEN3_HUMAN	K	261;261;119	ENSP00000424226:T261K;ENSP00000385276:T261K;ENSP00000426914:T119K	ENSP00000385276:T261K	T	+	2	0	ODZ3	183786830	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.475000	0.83589	0.650000	0.86243	ACG		0.423	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			3	6	1	0	0.00024832	1	0.000258812	3	6				
ABCC8	6833	broad.mit.edu	37	11	17432096	17432096	+	Silent	SNP	G	G	A			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr11:17432096G>A	ENST00000389817.3	-	22	2729	c.2661C>T	c.(2659-2661)acC>acT	p.T887T	ABCC8_ENST00000302539.4_Silent_p.T888T			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	887	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	GTAGCTTGTGGGTCACTAAGA	0.592																																						ENST00000302539.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(2662-2664)acC>acT		ATP-binding cassette, sub-family C (CFTR/MRP), member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						143.0	126.0	132.0					11																	17432096		2200	4293	6493	SO:0001819	synonymous_variant	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17432096G>A	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.2661C>T	11.37:g.17432096G>A						ABCC8_ENST00000389817.3_Silent_p.T887T	p.T888T	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	22	2789	-			887			ABC transporter 1.		A6NMX8|E3UYX6|O75948|Q16583	Silent	SNP	ENST00000389817.3	37	c.2664C>T	CCDS31437.1																																																																																				0.592	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		5	100	0	0	0	1	0	5	100				
ALKBH5	54890	broad.mit.edu	37	17	18098327	18098327	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr17:18098327C>T	ENST00000399138.4	+	2	834	c.829C>T	c.(829-831)Cga>Tga	p.R277*	ALKBH5_ENST00000541285.1_5'UTR	NM_017758.3	NP_060228.3	Q6P6C2	ALKB5_HUMAN	AlkB family member 5, RNA demethylase	277					cell differentiation (GO:0030154)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|oxidative single-stranded RNA demethylation (GO:0035553)|response to hypoxia (GO:0001666)|spermatogenesis (GO:0007283)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|oxidative RNA demethylase activity (GO:0035515)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|skin(1)	10	all_neural(463;0.228)					CAAGGAGCGCCGAGCAGTCAT	0.502																																					Ovarian(166;154 1953 40235 46283 46309)	ENST00000399138.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|skin(1)	10						c.(829-831)Cga>Tga		alkB, alkylation repair homolog 5 (E. coli)							115.0	108.0	110.0					17																	18098327		2050	4204	6254	SO:0001587	stop_gained	54890					integral to membrane	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:18098327C>T	AK000315	CCDS42272.1	17p11.2	2014-07-23	2014-07-23	2006-02-09	ENSG00000091542	ENSG00000091542	1.14.11.-	"""Alkylation repair homologs"""	25996	protein-coding gene	gene with protein product		613303	"""oxoglutarate and iron-dependent oxygenase domain containing"", ""alkB, alkylation repair homolog 5 (E. coli)"""	OFOXD1		11997338, 24778178	Standard	NM_017758		Approved	FLJ20308	uc010cpw.3	Q6P6C2	OTTHUMG00000059397	ENST00000399138.4:c.829C>T	17.37:g.18098327C>T	ENSP00000382091:p.Arg277*					ALKBH5_ENST00000541285.1_5'UTR	p.R277*	NM_017758.3	NP_060228.3	Q6P6C2	ALKB5_HUMAN			2	834	+	all_neural(463;0.228)		277					B4DVJ4|D3DXC6|Q9NXD6	Nonsense_Mutation	SNP	ENST00000399138.4	37	c.829C>T	CCDS42272.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.871966	0.91587	.	.	ENSG00000091542	ENST00000261650;ENST00000500385;ENST00000399138	.	.	.	5.67	2.48	0.30137	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.5806	0.68288	0.7151:0.2849:0.0:0.0	.	.	.	.	X	277;266;277	.	ENSP00000261650:R277X	R	+	1	2	ALKBH5	18039052	0.922000	0.31269	0.997000	0.53966	0.883000	0.51084	0.634000	0.24614	0.236000	0.21180	-0.314000	0.08810	CGA		0.502	ALKBH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132069.3	NM_017758		8	27	0	0	0	1	0	8	27				
PLIN5	440503	broad.mit.edu	37	19	4525830	4525830	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr19:4525830C>T	ENST00000381848.3	-	6	615	c.535G>A	c.(535-537)Gag>Aag	p.E179K		NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	179					lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|mitochondrion localization (GO:0051646)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of lipase activity (GO:0060192)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of triglyceride catabolic process (GO:0010897)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of lipase activity (GO:0060193)|positive regulation of lipid storage (GO:0010884)|positive regulation of sequestering of triglyceride (GO:0010890)|positive regulation of triglyceride biosynthetic process (GO:0010867)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						CCTTCAGCCTCAGCCGCCAGT	0.657																																						ENST00000381848.3																			0				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						c.(535-537)Gag>Aag		perilipin 5							13.0	18.0	17.0					19																	4525830		2006	4137	6143	SO:0001583	missense	440503					lipid particle		g.chr19:4525830C>T	DQ839131	CCDS42473.1	19p13.3	2009-08-12			ENSG00000214456	ENSG00000214456		"""Perilipins"""	33196	protein-coding gene	gene with protein product	"""lipid storage droplet protein 5"""	613248				17234449, 19638644	Standard	NM_001013706		Approved	LSDP5, LSDA5, OXPAT, MLDP	uc002mas.3	Q00G26		ENST00000381848.3:c.535G>A	19.37:g.4525830C>T	ENSP00000371272:p.Glu179Lys						p.E179K	NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN			6	615	-			179					A2RRC1|Q6ZS68	Missense_Mutation	SNP	ENST00000381848.3	37	c.535G>A	CCDS42473.1	.	.	.	.	.	.	.	.	.	.	.	1.655	-0.513005	0.04200	.	.	ENSG00000214456	ENST00000381848	T	0.04917	3.53	4.92	3.89	0.44902	.	0.175949	0.35495	U	0.003161	T	0.04048	0.0113	N	0.17082	0.46	0.80722	D	1	P	0.36909	0.573	B	0.40602	0.334	T	0.32241	-0.9914	10	0.02654	T	1	-17.9673	9.3943	0.38392	0.0:0.8991:0.0:0.1009	.	179	Q00G26	PLIN5_HUMAN	K	179	ENSP00000371272:E179K	ENSP00000371272:E179K	E	-	1	0	PLIN5	4476830	0.015000	0.18098	0.814000	0.32528	0.278000	0.26855	0.482000	0.22276	1.206000	0.43276	0.561000	0.74099	GAG		0.657	PLIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458647.1	NM_001013706		3	25	0	0	0	1	0	3	25				
OTX1	5013	broad.mit.edu	37	2	63281299	63281299	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr2:63281299C>T	ENST00000282549.2	+	4	491	c.215C>T	c.(214-216)gCg>gTg	p.A72V	OTX1_ENST00000366671.3_Missense_Mutation_p.A72V	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	72					anterior/posterior pattern specification (GO:0009952)|diencephalon morphogenesis (GO:0048852)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					GAGGAGGTGGCGCTCAAGATC	0.647																																						ENST00000282549.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(214-216)gCg>gTg		orthodenticle homeobox 1							86.0	84.0	84.0					2																	63281299		2203	4300	6503	SO:0001583	missense	5013					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:63281299C>T		CCDS1873.1	2p15	2011-06-20	2007-02-15		ENSG00000115507	ENSG00000115507		"""Homeoboxes / PRD class"""	8521	protein-coding gene	gene with protein product		600036	"""orthodenticle (Drosophila) homolog 1"", ""orthodenticle homolog 1 (Drosophila)"""			7959790	Standard	NM_001199770		Approved		uc002scd.3	P32242	OTTHUMG00000129454	ENST00000282549.2:c.215C>T	2.37:g.63281299C>T	ENSP00000282549:p.Ala72Val					OTX1_ENST00000366671.3_Missense_Mutation_p.A72V	p.A72V	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN			4	491	+	Lung NSC(7;0.121)|all_lung(7;0.211)		72					A6NHA2|B3KTJ4|Q53TG6	Missense_Mutation	SNP	ENST00000282549.2	37	c.215C>T	CCDS1873.1	.	.	.	.	.	.	.	.	.	.	C	31	5.102842	0.94245	.	.	ENSG00000115507	ENST00000366671;ENST00000282549	D;D	0.98362	-4.89;-4.89	5.09	5.09	0.68999	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99257	0.9741	H	0.94847	3.59	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98982	1.0805	10	0.87932	D	0	.	17.4242	0.87522	0.0:1.0:0.0:0.0	.	72	P32242	OTX1_HUMAN	V	72	ENSP00000355631:A72V;ENSP00000282549:A72V	ENSP00000282549:A72V	A	+	2	0	OTX1	63134803	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.647000	0.83462	2.638000	0.89438	0.655000	0.94253	GCG		0.647	OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251617.1			22	59	0	0	0	1	0	22	59				
MYH2	4620	broad.mit.edu	37	17	10426662	10426662	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr17:10426662C>T	ENST00000245503.5	-	38	5924	c.5540G>A	c.(5539-5541)cGc>cAc	p.R1847H	MYH2_ENST00000397183.2_Missense_Mutation_p.R1847H|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1847					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTCATGTTTGCGCAGACCTTT	0.463																																						ENST00000245503.5																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(5539-5541)cGc>cAc		myosin, heavy chain 2, skeletal muscle, adult							174.0	155.0	161.0					17																	10426662		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10426662C>T		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.5540G>A	17.37:g.10426662C>T	ENSP00000245503:p.Arg1847His					CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1847H	p.R1847H	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			38	5924	-			1847					A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.5540G>A	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.787376	0.90367	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.83163	-1.69;-1.69	5.5	5.5	0.81552	Myosin tail (1);	0.000000	0.39475	U	0.001357	D	0.86928	0.6051	M	0.87971	2.92	0.80722	D	1	B	0.21688	0.059	B	0.24701	0.055	D	0.84394	0.0556	10	0.56958	D	0.05	.	19.5916	0.95514	0.0:1.0:0.0:0.0	.	1847	Q9UKX2	MYH2_HUMAN	H	1847	ENSP00000245503:R1847H;ENSP00000380367:R1847H	ENSP00000245503:R1847H	R	-	2	0	MYH2	10367387	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	7.651000	0.83577	2.861000	0.98227	0.655000	0.94253	CGC		0.463	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		24	97	0	0	0	1	0	24	97				
OAS3	4940	broad.mit.edu	37	12	113388755	113388755	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr12:113388755C>G	ENST00000228928.7	+	7	1811	c.1632C>G	c.(1630-1632)agC>agG	p.S544R	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	544	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						CGGATGTTAGCCTGCTGCCTG	0.617																																						ENST00000228928.7																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						c.(1630-1632)agC>agG		2'-5'-oligoadenylate synthetase 3, 100kDa							54.0	55.0	55.0					12																	113388755		2037	4191	6228	SO:0001583	missense	4940				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113388755C>G	AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331			8088	protein-coding gene	gene with protein product		603351	"""2'-5'-oligoadenylate synthetase 3 (100 kD)"""			9790745	Standard	NM_006187		Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.1632C>G	12.37:g.113388755C>G	ENSP00000228928:p.Ser544Arg					RP1-71H24.1_ENST00000552784.1_RNA	p.S544R	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN			7	1811	+			544			OAS domain 2.		Q2HJ14|Q9H3P5	Missense_Mutation	SNP	ENST00000228928.7	37	c.1632C>G	CCDS44981.1	.	.	.	.	.	.	.	.	.	.	C	12.82	2.051507	0.36181	.	.	ENSG00000111331	ENST00000228928;ENST00000323881	T	0.08282	3.11	3.83	0.849	0.18972	.	.	.	.	.	T	0.09069	0.0224	M	0.62723	1.935	0.09310	N	1	P	0.48503	0.911	B	0.41988	0.372	T	0.24440	-1.0160	9	0.62326	D	0.03	.	2.8658	0.05601	0.2196:0.5341:0.0:0.2463	.	544	Q9Y6K5	OAS3_HUMAN	R	544;543	ENSP00000228928:S544R	ENSP00000228928:S544R	S	+	3	2	OAS3	111873138	0.000000	0.05858	0.014000	0.15608	0.325000	0.28411	0.038000	0.13862	-0.023000	0.13963	0.561000	0.74099	AGC		0.617	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405920.1			4	52	0	0	0	1	0	4	52				
RANBP2	5903	broad.mit.edu	37	2	109379847	109379847	+	Missense_Mutation	SNP	C	C	T	rs549497956		TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr2:109379847C>T	ENST00000283195.6	+	20	2978	c.2852C>T	c.(2851-2853)aCg>aTg	p.T951M		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	951					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.T951M(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TCTCCTGCAACGGGAATTCTA	0.463													C|||	1	0.000199681	0.0	0.0	5008	,	,		19187	0.0		0.001	False		,,,				2504	0.0					ENST00000283195.6																		RANBP2/ALK(34)	2	Substitution - Missense(2)	p.T951M(2)	large_intestine(2)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(2851-2853)aCg>aTg		RAN binding protein 2							118.0	112.0	114.0					2																	109379847		2203	4300	6503	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109379847C>T	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2852C>T	2.37:g.109379847C>T	ENSP00000283195:p.Thr951Met						p.T951M	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			20	2978	+			951					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.2852C>T	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.095894	0.76870	.	.	ENSG00000153201	ENST00000283195	T	0.28895	1.59	5.19	5.19	0.71726	.	.	.	.	.	T	0.45256	0.1333	L	0.32530	0.975	0.41106	D	0.985708	D	0.89917	1.0	D	0.63957	0.92	T	0.44360	-0.9333	9	0.72032	D	0.01	-21.1681	19.0873	0.93209	0.0:1.0:0.0:0.0	.	951	P49792	RBP2_HUMAN	M	951	ENSP00000283195:T951M	ENSP00000283195:T951M	T	+	2	0	RANBP2	108746279	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.734000	0.84928	2.570000	0.86706	0.563000	0.77884	ACG		0.463	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		19	46	0	0	0	1	0	19	46				
GTF3C3	9330	broad.mit.edu	37	2	197657782	197657782	+	Silent	SNP	C	C	T			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr2:197657782C>T	ENST00000263956.3	-	3	398	c.309G>A	c.(307-309)gaG>gaA	p.E103E	GTF3C3_ENST00000409364.3_Silent_p.E103E|GTF3C3_ENST00000470386.1_5'Flank	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	103	Glu-rich.				5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.E103E(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						cctcctcctcctcttcttcct	0.468																																						ENST00000263956.3																			1	Substitution - coding silent(1)	p.E103E(1)	endometrium(1)	breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(307-309)gaG>gaA		general transcription factor IIIC, polypeptide 3, 102kDa							65.0	63.0	64.0					2																	197657782		2203	4300	6503	SO:0001819	synonymous_variant	9330					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr2:197657782C>T	AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"""General transcription factors"", ""Tetratricopeptide (TTC) repeat domain containing"""	4666	protein-coding gene	gene with protein product		604888	"""general transcription factor IIIC, polypeptide 3 (102kD)"""			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.309G>A	2.37:g.197657782C>T						GTF3C3_ENST00000409364.3_Silent_p.E103E	p.E103E	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN			3	398	-			103			Glu-rich.		Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Silent	SNP	ENST00000263956.3	37	c.309G>A	CCDS2316.1																																																																																				0.468	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1			3	33	0	0	0	1	0	3	33				
STXBP2	6813	broad.mit.edu	37	19	7709629	7709629	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr19:7709629C>T	ENST00000221283.5	+	14	1268	c.1237C>T	c.(1237-1239)Ctt>Ttt	p.L413F	STXBP2_ENST00000414284.2_Missense_Mutation_p.L410F|STXBP2_ENST00000602355.1_5'Flank|STXBP2_ENST00000441779.2_Missense_Mutation_p.L424F	NM_006949.2	NP_008880.2	Q15833	STXB2_HUMAN	syntaxin binding protein 2	413					leukocyte mediated cytotoxicity (GO:0001909)|neutrophil degranulation (GO:0043312)|protein transport (GO:0015031)|regulation of mast cell degranulation (GO:0043304)|vesicle docking involved in exocytosis (GO:0006904)	azurophil granule (GO:0042582)|cytolytic granule (GO:0044194)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin-3 binding (GO:0030348)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						CTACATCCTCCTTCGGAATGG	0.617																																						ENST00000441779.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1270-1272)Ctt>Ttt		syntaxin binding protein 2							60.0	47.0	51.0					19																	7709629		2203	4299	6502	SO:0001583	missense	6813				leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding	g.chr19:7709629C>T	U63533	CCDS12181.1, CCDS45948.1, CCDS62522.1	19p13.3-p13.2	2014-09-17				ENSG00000076944			11445	protein-coding gene	gene with protein product		601717				8921365	Standard	NM_001127396		Approved	UNC18B, Hunc18b	uc010xjr.3	Q15833		ENST00000221283.5:c.1237C>T	19.37:g.7709629C>T	ENSP00000221283:p.Leu413Phe					STXBP2_ENST00000414284.2_Missense_Mutation_p.L410F|STXBP2_ENST00000221283.5_Missense_Mutation_p.L413F	p.L424F	NM_001272034.1	NP_001258963.1	Q15833	STXB2_HUMAN			14	1307	+			413					B4E175|E7EQD5|Q9BU65	Missense_Mutation	SNP	ENST00000221283.5	37	c.1270C>T	CCDS12181.1	.	.	.	.	.	.	.	.	.	.	C	7.926	0.739670	0.15642	.	.	ENSG00000076944	ENST00000221283;ENST00000414284;ENST00000441779;ENST00000543902	T;T;T	0.76578	-1.03;-1.03;-1.03	4.02	2.94	0.34122	.	0.175066	0.38897	N	0.001530	T	0.54743	0.1877	N	0.11000	0.08	0.41574	D	0.9887	B;B;B;B;B	0.23249	0.082;0.082;0.001;0.066;0.082	B;B;B;B;B	0.24701	0.055;0.055;0.01;0.033;0.055	T	0.49542	-0.8929	10	0.09843	T	0.71	-0.6427	9.8615	0.41118	0.0:0.8939:0.0:0.1061	.	424;424;379;410;413	E7EQD5;B4E175;B4DY46;Q15833-2;Q15833	.;.;.;.;STXB2_HUMAN	F	413;410;424;413	ENSP00000221283:L413F;ENSP00000409471:L410F;ENSP00000413606:L424F	ENSP00000221283:L413F	L	+	1	0	STXBP2	7615629	1.000000	0.71417	0.041000	0.18516	0.006000	0.05464	5.863000	0.69568	2.088000	0.63022	0.591000	0.81541	CTT		0.617	STXBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460963.1	NM_006949		10	45	0	0	0	1	0	10	45				
PRKG1	5592	broad.mit.edu	37	10	54031235	54031235	+	Silent	SNP	C	C	T	rs145035655	byFrequency	TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr10:54031235C>T	ENST00000401604.2	+	11	1448	c.1254C>T	c.(1252-1254)tcC>tcT	p.S418S	PRKG1_ENST00000373975.2_Silent_p.S136S|PRKG1-AS1_ENST00000426785.2_RNA|PRKG1-AS1_ENST00000452247.2_RNA|PRKG1_ENST00000373985.1_Silent_p.S406S|PRKG1_ENST00000373980.4_Silent_p.S433S			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	418	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|dendrite development (GO:0016358)|forebrain development (GO:0030900)|negative regulation of platelet aggregation (GO:0090331)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|regulation of GTPase activity (GO:0043087)|relaxation of vascular smooth muscle (GO:0060087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		GGGCTCATTCCGATTTCATAG	0.488													C|||	9	0.00179712	0.0068	0.0	5008	,	,		16403	0.0		0.0	False		,,,				2504	0.0					ENST00000373980.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53						c.(1297-1299)tcC>tcT		protein kinase, cGMP-dependent, type I		C	,	19,4387	27.2+/-55.0	0,19,2184	72.0	67.0	69.0		1254,1299	-4.3	1.0	10	dbSNP_134	69	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PRKG1	NM_001098512.2,NM_006258.3	,	0,19,6484	TT,TC,CC		0.0,0.4312,0.1461	,	418/672,433/687	54031235	19,12987	2203	4300	6503	SO:0001819	synonymous_variant	5592				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	g.chr10:54031235C>T		CCDS7244.1	10q11.2	2009-07-10			ENSG00000185532	ENSG00000185532	2.7.11.1		9414	protein-coding gene	gene with protein product		176894		PRKGR1B, PRKG1B		2792381, 1544322	Standard	NM_001098512		Approved	PGK, PKG	uc001jjo.3	Q13976	OTTHUMG00000018248	ENST00000401604.2:c.1254C>T	10.37:g.54031235C>T						PRKG1_ENST00000373985.1_Silent_p.S406S|PRKG1-AS1_ENST00000452247.2_RNA|PRKG1_ENST00000401604.2_Silent_p.S418S|PRKG1_ENST00000373975.2_Silent_p.S136S|PRKG1-AS1_ENST00000426785.2_RNA	p.S433S	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)	11	1716	+		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)	418			Protein kinase.		A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	Silent	SNP	ENST00000401604.2	37	c.1299C>T	CCDS44399.1																																																																																				0.488	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				17	28	0	0	0	1	0	17	28				
TOM1L1	10040	broad.mit.edu	37	17	52993152	52993152	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr17:52993152C>T	ENST00000575882.1	+	7	1002	c.649C>T	c.(649-651)Cga>Tga	p.R217*	TOM1L1_ENST00000570371.1_Nonsense_Mutation_p.R217*|TOM1L1_ENST00000575333.1_Nonsense_Mutation_p.R217*|TOM1L1_ENST00000536554.1_Nonsense_Mutation_p.R140*|TOM1L1_ENST00000348161.4_Nonsense_Mutation_p.R140*|TOM1L1_ENST00000445275.2_Nonsense_Mutation_p.R217*|TOM1L1_ENST00000572158.1_Nonsense_Mutation_p.R210*|TOM1L1_ENST00000540336.1_Nonsense_Mutation_p.R105*|TOM1L1_ENST00000572405.1_Nonsense_Mutation_p.R182*	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	217	GAT. {ECO:0000255|PROSITE- ProRule:PRU00373}.				activation of protein kinase activity (GO:0032147)|intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|positive regulation of protein autophosphorylation (GO:0031954)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	clathrin binding (GO:0030276)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|ubiquitin binding (GO:0043130)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						AATGAATGTGCGAGTGATGTC	0.433																																						ENST00000575882.1																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						c.(649-651)Cga>Tga		target of myb1 (chicken)-like 1							225.0	203.0	210.0					17																	52993152		2203	4300	6503	SO:0001587	stop_gained	10040				intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	cytosol|endosome membrane|Golgi stack|lysosome	SH3 domain binding|ubiquitin binding	g.chr17:52993152C>T	AJ010071	CCDS11582.1	17q23.2	2008-01-03	2007-01-12			ENSG00000141198			11983	protein-coding gene	gene with protein product		604701	"""target of myb1 (chicken) homolog-like 1"""			10329004, 15611048, 17977829	Standard	NM_005486		Approved	SRCASM	uc002iud.2	O75674		ENST00000575882.1:c.649C>T	17.37:g.52993152C>T	ENSP00000460823:p.Arg217*					TOM1L1_ENST00000572158.1_Nonsense_Mutation_p.R210*|TOM1L1_ENST00000540336.1_Nonsense_Mutation_p.R105*|TOM1L1_ENST00000348161.4_Nonsense_Mutation_p.R140*|TOM1L1_ENST00000575333.1_Nonsense_Mutation_p.R217*|TOM1L1_ENST00000445275.2_Nonsense_Mutation_p.R217*|TOM1L1_ENST00000572405.1_Nonsense_Mutation_p.R182*|TOM1L1_ENST00000570371.1_Nonsense_Mutation_p.R217*|TOM1L1_ENST00000536554.1_Nonsense_Mutation_p.R140*	p.R217*	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN			7	1002	+			217			GAT.		Q53G06|Q8N749	Nonsense_Mutation	SNP	ENST00000575882.1	37	c.649C>T	CCDS11582.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.370424	0.82573	.	.	ENSG00000141198	ENST00000445275;ENST00000540336;ENST00000348161;ENST00000536554	.	.	.	6.17	2.79	0.32731	.	0.499922	0.21022	N	0.081489	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	-3.0859	7.1798	0.25765	0.5937:0.3276:0.0787:0.0	.	.	.	.	X	217;105;140;140	.	ENSP00000343901:R140X	R	+	1	2	TOM1L1	50348151	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	2.850000	0.48294	0.585000	0.29608	0.655000	0.94253	CGA		0.433	TOM1L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439029.2	NM_005486		5	117	0	0	0	1	0	5	117				
PCDHAC2	56134	broad.mit.edu	37	5	140348695	140348695	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr5:140348695C>T	ENST00000289269.5	+	1	2876	c.2344C>T	c.(2344-2346)Cga>Tga	p.R782*	PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	782					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATTGAAGTTCGAGGGAATGG	0.507																																					Melanoma(190;638 2083 3390 11909 52360)	ENST00000289269.5																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(2344-2346)Cga>Tga									91.0	85.0	87.0					5																	140348695		2203	4300	6503	SO:0001587	stop_gained	56134				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140348695C>T	AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"""Cadherins / Protocadherins : Clustered"""	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.2344C>T	5.37:g.140348695C>T	ENSP00000289269:p.Arg782*					PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron	p.R782*	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2876	+			782					Q2M3V1|Q9Y5F4	Nonsense_Mutation	SNP	ENST00000289269.5	37	c.2344C>T	CCDS4242.1	.	.	.	.	.	.	.	.	.	.	C	42	9.797417	0.99267	.	.	ENSG00000243232	ENST00000289269	.	.	.	5.19	5.19	0.71726	.	0.000000	0.33895	N	0.004447	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	12.9946	0.58640	0.2844:0.7156:0.0:0.0	.	.	.	.	X	782	.	ENSP00000289269:R782X	R	+	1	2	PCDHAC2	140328879	0.619000	0.27059	1.000000	0.80357	0.993000	0.82548	-0.108000	0.10857	2.436000	0.82500	0.462000	0.41574	CGA		0.507	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251802.2	NM_018899		9	49	0	0	0	1	0	9	49				
RBBP8	5932	broad.mit.edu	37	18	20573147	20573147	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr18:20573147G>C	ENST00000399722.2	+	11	1708	c.1357G>C	c.(1357-1359)Gaa>Caa	p.E453Q	RBBP8_ENST00000327155.5_Missense_Mutation_p.E453Q|RBBP8_ENST00000399725.2_Missense_Mutation_p.E453Q|RBBP8_ENST00000360790.5_Missense_Mutation_p.E453Q	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	453					blastocyst hatching (GO:0001835)|cell cycle checkpoint (GO:0000075)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|G2 DNA damage checkpoint (GO:0031572)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	damaged DNA binding (GO:0003684)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			AACTGAGGAAGAAAGTGAACA	0.403								Homologous recombination																														ENST00000399722.2																			0				central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24						c.(1357-1359)Gaa>Caa	Homologous recombination	retinoblastoma binding protein 8							51.0	53.0	53.0					18																	20573147		2199	4300	6499	SO:0001583	missense	5932				cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr18:20573147G>C	AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773			9891	protein-coding gene	gene with protein product	"""CTBP-interacting protein"""	604124	"""retinoblastoma-binding protein 8"", ""Seckel syndrome 2"""	SCKL2		9721205, 17965729, 21998596	Standard	NM_002894		Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.1357G>C	18.37:g.20573147G>C	ENSP00000382628:p.Glu453Gln					RBBP8_ENST00000399725.2_Missense_Mutation_p.E453Q|RBBP8_ENST00000360790.5_Missense_Mutation_p.E453Q|RBBP8_ENST00000327155.5_Missense_Mutation_p.E453Q	p.E453Q	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;0.00196)		11	1708	+	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		453					A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Missense_Mutation	SNP	ENST00000399722.2	37	c.1357G>C	CCDS11875.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.687908	0.48097	.	.	ENSG00000101773	ENST00000327155;ENST00000399725;ENST00000399722;ENST00000399721;ENST00000360790	T;T;T;T;T	0.37058	1.26;1.22;1.26;1.25;1.26	6.04	6.04	0.98038	.	0.000000	0.64402	D	0.000007	T	0.58566	0.2131	M	0.78049	2.395	0.80722	D	1	D;D;D	0.76494	0.986;0.999;0.975	P;D;P	0.63488	0.642;0.915;0.642	T	0.61118	-0.7127	10	0.72032	D	0.01	-15.9481	13.3217	0.60436	0.0753:0.0:0.9247:0.0	.	453;453;453	E7ETY1;A6NKN2;Q99708	.;.;COM1_HUMAN	Q	453	ENSP00000323050:E453Q;ENSP00000382630:E453Q;ENSP00000382628:E453Q;ENSP00000382627:E453Q;ENSP00000354024:E453Q	ENSP00000323050:E453Q	E	+	1	0	RBBP8	18827145	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.554000	0.53720	2.873000	0.98535	0.561000	0.74099	GAA		0.403	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446387.1	NM_203291		12	24	0	0	0	1	0	12	24				
KDM5B	10765	broad.mit.edu	37	1	202715271	202715271	+	Splice_Site	SNP	G	G	A	rs200210227		TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr1:202715271G>A	ENST00000367265.3	-	15	3361	c.2197C>T	c.(2197-2199)Cgg>Tgg	p.R733W	KDM5B_ENST00000367264.2_Splice_Site_p.R769W	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	733					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CCTACTTACCGCAATTTATAT	0.378																																						ENST00000367265.3																			0				breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						c.e15+1		lysine (K)-specific demethylase 5B							99.0	87.0	91.0					1																	202715271		2203	4300	6503	SO:0001630	splice_region_variant	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202715271G>A	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.2198+1C>T	1.37:g.202715271G>A						KDM5B_ENST00000367264.2_Splice_Site_p.R769_splice	p.R733_splice	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN			15	3361	-			733					O95811|Q15752|Q9Y3Q5	Splice_Site	SNP	ENST00000367265.3	37	c.2198_splice	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.159529	0.78226	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790;ENST00000543924	D;D;D	0.89681	-2.55;-2.55;-2.55	5.88	1.61	0.23674	Zinc finger, C5HC2-type (1);	0.267390	0.43579	D	0.000550	D	0.90003	0.6879	L	0.49571	1.57	0.34254	D	0.67913	D;D	0.67145	0.996;0.994	P;D	0.64595	0.514;0.927	D	0.90216	0.4268	10	0.87932	D	0	-16.6996	7.4594	0.27285	0.0:0.351:0.334:0.315	.	769;733	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	W	733;575;769;575;102	ENSP00000356234:R733W;ENSP00000356233:R769W;ENSP00000235790:R575W	ENSP00000235790:R575W	R	-	1	2	KDM5B	200981894	1.000000	0.71417	0.998000	0.56505	0.936000	0.57629	2.400000	0.44504	0.344000	0.23847	0.655000	0.94253	CGG		0.378	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618	Missense_Mutation	13	48	0	0	0	1	0	13	48				
FRG1B	284802	broad.mit.edu	37	20	29628300	29628300	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr20:29628300G>A	ENST00000278882.3	+	6	682	c.302G>A	c.(301-303)aGt>aAt	p.S101N	FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	101								p.S101N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAGCAAAAAGTAAAACAGCA	0.358																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.S101N(2)	prostate(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(301-303)aGt>aAt																																						SO:0001583	missense	284802							g.chr20:29628300G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.302G>A	20.37:g.29628300G>A	ENSP00000278882:p.Ser101Asn					FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N	p.S101N							6	682	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.302G>A		.	.	.	.	.	.	.	.	.	.	g	10.56	1.384968	0.25031	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.125588	0.64402	N	0.000001	T	0.33265	0.0857	.	.	.	0.40357	D	0.979199	B;B	0.16802	0.003;0.019	B;B	0.16289	0.007;0.015	T	0.20605	-1.0270	9	0.33940	T	0.23	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	106;101	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	N	101;106;101	ENSP00000408863:S106N	ENSP00000278882:S101N	S	+	2	0	FRG1B	28241961	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	2.004000	0.40854	1.475000	0.48197	0.423000	0.28283	AGT		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	52	0	0	0	1	0	4	52				
MROH5	389690	broad.mit.edu	37	8	142450415	142450415	+	RNA	SNP	C	C	T	rs368916724		TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr8:142450415C>T	ENST00000606664.1	+	0	5922				MROH5_ENST00000430863.1_RNA																							TGTGCCAGCACGGTCAAGGCA	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		19065	0.0		0.001	False		,,,				2504	0.0					ENST00000430863.1																			0													maestro heat-like repeat family member 5		C	MET/VAL	1,4173		0,1,2086	34.0	36.0	35.0		3133	-3.4	0.0	8		35	1,8419		0,1,4209	no	missense	FLJ43860	NM_207414.2	21	0,2,6295	TT,TC,CC		0.0119,0.024,0.0159	probably-damaging	1045/1319	142450415	2,12592	2087	4210	6297			389690							g.chr8:142450415C>T																													8.37:g.142450415C>T								NM_207414.2	NP_997297.2					0	3213	-									RNA	SNP	ENST00000606664.1	37																																																																																						0.607	CTD-3064M3.7-001	KNOWN	non_canonical_TEC|basic	antisense	antisense	OTTHUMT00000470872.1			4	5	0	0	0	1	0	4	5				
DNAH5	1767	broad.mit.edu	37	5	13751205	13751205	+	Silent	SNP	G	G	T			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr5:13751205G>T	ENST00000265104.4	-	65	11297	c.11193C>A	c.(11191-11193)gtC>gtA	p.V3731V		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3731	AAA 5. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTGTGAGAATGACCCTCCCCA	0.443									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(11191-11193)gtC>gtA		dynein, axonemal, heavy chain 5							135.0	127.0	129.0					5																	13751205		2203	4300	6503	SO:0001819	synonymous_variant	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13751205G>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.11193C>A	5.37:g.13751205G>T							p.V3731V	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			65	11297	-	Lung NSC(4;0.00476)		3731			AAA 5 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.11193C>A	CCDS3882.1																																																																																				0.443	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		12	30	1	0	2.68362e-12	1	2.87808e-12	12	30				
RB1	5925	broad.mit.edu	37	13	48941648	48941648	+	Nonsense_Mutation	SNP	C	C	T	rs121913300		TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr13:48941648C>T	ENST00000267163.4	+	10	1096	c.958C>T	c.(958-960)Cga>Tga	p.R320*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	320					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.R320*(11)|p.?(7)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TCTTTCTAAACGATACGAAGA	0.313	R320*(GMS10_CENTRAL_NERVOUS_SYSTEM)|R320*(ISHIKAWAHERAKLIO02ER_ENDOMETRIUM)	6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												ENST00000267163.4	R320*(GMS10_CENTRAL_NERVOUS_SYSTEM)|R320*(ISHIKAWAHERAKLIO02ER_ENDOMETRIUM)	6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"""D, Mis, N, F, S"""	retinoblastoma gene			"""L, E, M, O"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""		33	Whole gene deletion(15)|Substitution - Nonsense(11)|Unknown(7)	p.0?(15)|p.R320*(11)|p.?(7)	bone(11)|eye(8)|breast(5)|endometrium(3)|central_nervous_system(2)|adrenal_gland(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496	GRCh37	CM941205	RB1	M	rs121913300	c.(958-960)Cga>Tga		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						54.0	64.0	61.0					13																	48941648		2194	4283	6477	SO:0001587	stop_gained	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48941648C>T	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.958C>T	13.37:g.48941648C>T	ENSP00000267163:p.Arg320*	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.R320*	NM_000321.2	NP_000312.2	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	10	1096	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	320					A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	ENST00000267163.4	37	c.958C>T	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	C	38	6.735464	0.97801	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.43	5.43	0.79202	.	0.126181	0.56097	D	0.000038	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	.	14.5633	0.68156	0.1469:0.8531:0.0:0.0	.	.	.	.	X	299;320	.	ENSP00000267163:R320X	R	+	1	2	RB1	47839649	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	2.830000	0.48136	2.521000	0.84997	0.591000	0.81541	CGA		0.313	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			6	21	0	0	0	1	0	6	21				
HIST1H1E	3008	broad.mit.edu	37	6	26156678	26156680	+	In_Frame_Del	DEL	GAA	GAA	-	rs545095988	byFrequency	TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr6:26156678_26156680delGAA	ENST00000304218.3	+	1	120_122	c.60_62delGAA	c.(58-63)gtgaag>gtg	p.K23del	HIST1H2BD_ENST00000377777.4_5'Flank|HIST1H2BD_ENST00000289316.2_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	23					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						AGACTCCCGTGAAGAAGAAGGCC	0.65														3	0.000599042	0.0	0.0043	5008	,	,		14947	0.0		0.0	False		,,,				2504	0.0					ENST00000304218.3																			0				NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						c.(58-63)gtg>gt		histone cluster 1, H1e				3,4135		0,3,2066						4.3	1.0			45	0,8162		0,0,4081	no	coding	HIST1H1E	NM_005321.2		0,3,6147	A1A1,A1R,RR		0.0,0.0725,0.0244				3,12297				SO:0001651	inframe_deletion	3008				nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26156678_26156680delGAA	M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"""Histones / Replication-dependent"""	4718	protein-coding gene	gene with protein product		142220	"""H1 histone family, member 4"", ""histone 1, H1e"""	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.60_62delGAA	6.37:g.26156684_26156686delGAA	ENSP00000307705:p.Lys23del						p.VK20del	NM_005321.2	NP_005312.1	P10412	H14_HUMAN			1	120_122	+			20					Q4VB25	In_Frame_Del	DEL	ENST00000304218.3	37	c.60_62delGAA	CCDS4586.1																																																																																				0.650	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040084.1	NM_005321		14	131						14	131	---	---	---	---
STAG3L4	64940	broad.mit.edu	37	7	66772495	66772495	+	RNA	DEL	T	T	-			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr7:66772495delT	ENST00000416602.2	+	0	362					NR_040586.1		Q8TBR4	ST3L4_HUMAN	stromal antigen 3-like 4 (pseudogene)											endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				GCTTGATTCCTTTTTTTTTTT	0.423																																						ENST00000416602.2																			0				endometrium(2)|lung(5)	7																																														64940							g.chr7:66772495delT			7q11.21	2013-06-26	2013-06-26		ENSG00000106610	ENSG00000106610			33887	pseudogene	pseudogene			"""stromal antigen 3-like 4"""				Standard	NR_040585		Approved	FLJ13195, STAG3L4P	uc010laj.3	Q8TBR4	OTTHUMG00000156920		7.37:g.66772495delT								NR_040586.1		Q8TBR4	STG34_HUMAN			0	362	+		Lung NSC(55;0.0839)|all_lung(88;0.181)						Q9H8W0	RNA	DEL	ENST00000416602.2	37																																																																																						0.423	STAG3L4-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000346611.1	NM_022906		2	4						2	4	---	---	---	---
CNTNAP3B	728577	broad.mit.edu	37	9	43844265	43844265	+	Frame_Shift_Del	DEL	G	G	-	rs200487787	byFrequency	TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr9:43844265delG	ENST00000377564.3	+	10	1992	c.1599delG	c.(1597-1599)gcgfs	p.A533fs		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	533	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						AGCAGGGGGCGCTGGGGAGTT	0.542													g|G|-|deletion	1256	0.250799	0.2352	0.2061	5008	,	,		15575	0.3968		0.174	False		,,,				2504	0.2321					ENST00000377564.3																			0				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						c.(1597-1599)gcfs		contactin associated protein-like 3B																																				SO:0001589	frameshift_variant	728577				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr9:43844265delG	BX538190	CCDS75836.1	9p12	2007-12-14			ENSG00000154529	ENSG00000154529			32035	protein-coding gene	gene with protein product						15820314	Standard	XM_006716853		Approved		uc004abr.1	Q96NU0	OTTHUMG00000013174	ENST00000377564.3:c.1599delG	9.37:g.43844265delG	ENSP00000366787:p.Ala533fs						p.A533fs	NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN			10	1992	+			533			Laminin G-like 2.		B1B0V7|B1B0V8|B1B0V9|B1B0W0|B1B0X8|B1B162|Q4VXF0|Q9H7W3	Frame_Shift_Del	DEL	ENST00000377564.3	37	c.1599delG	CCDS55312.1																																																																																				0.542	CNTNAP3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036930.3			7	9						7	9	---	---	---	---
PTEN	5728	broad.mit.edu	37	10	89653856	89653857	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr10:89653856_89653857insA	ENST00000371953.3	+	2	1511_1512	c.154_155insA	c.(154-156)gatfs	p.D52fs		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	52	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(8)|p.Y27fs*1(2)|p.D52del(2)|p.D52N(1)|p.D52G(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CAATATTGATGATGTAGTAAGG	0.297		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		51	Whole gene deletion(37)|Unknown(8)|Substitution - Missense(2)|Deletion - In frame(2)|Deletion - Frameshift(2)	p.0?(37)|p.?(8)|p.Y27fs*1(2)|p.D52del(2)|p.D52N(1)|p.D52G(1)	prostate(14)|skin(9)|central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(4)|lung(4)|endometrium(3)|ovary(3)|breast(2)|soft_tissue(1)|urinary_tract(1)|NS(1)|kidney(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CD075524	PTEN	D		c.(154-156)tgtfs		phosphatase and tensin homolog																																				SO:0001589	frameshift_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89653856_89653857insA	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.155dupA	10.37:g.89653857_89653857dupA	ENSP00000361021:p.Asp52fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.C52fs	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	2	1511_1512	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	52			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Ins	INS	ENST00000371953.3	37	c.154_155insA	CCDS31238.1																																																																																				0.297	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		8	7						8	7	---	---	---	---
PLA2G4F	255189	broad.mit.edu	37	15	42442617	42442619	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr15:42442617_42442619delGAG	ENST00000382396.4	-	9	923_925	c.837_839delCTC	c.(835-840)tcctct>tct	p.279_280SS>S	PLA2G4F_ENST00000397272.3_In_Frame_Del_p.279_280SS>S			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	279					arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		TAGGGGCAGAGAGGAGAGCAGGA	0.626																																						ENST00000397272.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(835-840)tct>tc		phospholipase A2, group IVF																																				SO:0001651	inframe_deletion	255189				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42442617_42442619delGAG		CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.837_839delCTC	15.37:g.42442620_42442622delGAG	ENSP00000371833:p.Ser280del					PLA2G4F_ENST00000382396.4_In_Frame_Del_p.SS279del	p.SS279del	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	9	928_930	-		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)	279					Q6ZMC8	In_Frame_Del	DEL	ENST00000382396.4	37	c.837_839delCTC	CCDS32204.1																																																																																				0.626	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000420463.1	NM_213600		9	20						9	20	---	---	---	---
KRT15	3866	broad.mit.edu	37	17	39672397	39672399	+	In_Frame_Del	DEL	CCG	CCG	-	rs145001788		TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr17:39672397_39672399delCCG	ENST00000254043.3	-	4	4442_4444	c.857_859delCGG	c.(856-861)gcggag>gag	p.A286del	KRT15_ENST00000393974.3_In_Frame_Del_p.A121del|KRT15_ENST00000393981.3_In_Frame_Del_p.A121del|KRT15_ENST00000393976.2_In_Frame_Del_p.A286del	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	286	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				CGGTTCTTCTCCGCCATGGCCTC	0.645																																						ENST00000254043.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(856-861)gag>g		keratin 15																																				SO:0001651	inframe_deletion	3866				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39672397_39672399delCCG		CCDS11398.1	17q21.2	2013-06-20			ENSG00000171346	ENSG00000171346		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6421	protein-coding gene	gene with protein product	"""keratin-15, basic"", ""keratin-15, beta"", ""type I cytoskeletal 15"", ""cytokeratin 15"""	148030				16831889	Standard	NM_002275		Approved	K15, CK15, K1CO	uc002hwy.3	P19012	OTTHUMG00000133435	ENST00000254043.3:c.857_859delCGG	17.37:g.39672397_39672399delCCG	ENSP00000254043:p.Ala286del					KRT15_ENST00000393981.3_In_Frame_Del_p.AE121del|KRT15_ENST00000393976.2_In_Frame_Del_p.AE286del|KRT15_ENST00000393974.3_In_Frame_Del_p.AE121del	p.AE286del	NM_002275.3	NP_002266.2	P19012	K1C15_HUMAN			4	4442_4444	-		Breast(137;0.000286)	286			Coil 2.|Rod.		B3KQY1|B3KRA2|E0CX14|Q53XV8|Q9BUG4	In_Frame_Del	DEL	ENST00000254043.3	37	c.857_859delCGG	CCDS11398.1																																																																																				0.645	KRT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257301.1	NM_002275		81	189						81	189	---	---	---	---
LOC101927755	101927755	broad.mit.edu	37	17	58064624	58064624	+	lincRNA	DEL	T	T	-	rs544627779	byFrequency	TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr17:58064624delT	ENST00000586209.1	+	0	158																											ttTTTTGGTGTTTTTtttttt	0.353													|||unknown(HR)	1149	0.229433	0.2489	0.2738	5008	,	,		14499	0.2321		0.2396	False		,,,				2504	0.1585					ENST00000586209.1																			0																																																			101927755							g.chr17:58064624delT																													17.37:g.58064624delT														0	158	+									RNA	DEL	ENST00000586209.1	37																																																																																						0.353	RP11-178C3.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000449162.1			4	2						4	2	---	---	---	---
KMT2B	9757	broad.mit.edu	37	19	36223134	36223135	+	In_Frame_Ins	INS	-	-	CCA			TCGA-CN-A499-01A-11D-A24D-08	TCGA-CN-A499-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c1db5d2-037b-45e1-83db-8a8441c8ed9e	8138fe45-53ea-4351-a7f1-b21f3954d8a7	g.chr19:36223134_36223135insCCA	ENST00000222270.7	+	28	5684_5685	c.5684_5685insCCA	c.(5683-5688)acccac>acCCAccac	p.1897_1898insH	KMT2B_ENST00000420124.1_In_Frame_Ins_p.1897_1898insH|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1897					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										TCTTCACTGACCCACCACATCC	0.673																																						ENST00000420124.1																			0											c.(5683-5685)aca>aCCAca																																						SO:0001652	inframe_insertion	9757							g.chr19:36223134_36223135insCCA	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.5688_5690dupCCA	19.37:g.36223138_36223140dupCCA	ENSP00000222270:p.His1897_His1897dup					KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000222270.7_In_Frame_Ins_p.1895_1895T>TT	p.1895_1895T>TT							28	5684_5685	+								O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	In_Frame_Ins	INS	ENST00000222270.7	37	c.5684_5685insCCA	CCDS46055.1																																																																																				0.673	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		5	10						5	10	---	---	---	---
