#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
ABCA1	19	broad.mit.edu	37	9	107576492	107576492	+	Nonsense_Mutation	SNP	G	G	A	rs575627531		TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr9:107576492G>A	ENST00000374736.3	-	27	4202	c.3808C>T	c.(3808-3810)Cga>Tga	p.R1270*		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1270					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	CGCCTGTTTCGTCTTGCTGGC	0.468													G|||	1	0.000199681	0.0	0.0	5008	,	,		21014	0.0		0.0	False		,,,				2504	0.001					ENST00000374736.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115						c.(3808-3810)Cga>Tga		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						83.0	72.0	76.0					9																	107576492		2203	4300	6503	SO:0001587	stop_gained	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107576492G>A	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.3808C>T	9.37:g.107576492G>A	ENSP00000363868:p.Arg1270*						p.R1270*	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	27	4202	-			1270					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Nonsense_Mutation	SNP	ENST00000374736.3	37	c.3808C>T	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	G	46	12.842861	0.99700	.	.	ENSG00000165029	ENST00000374736	.	.	.	5.39	4.42	0.53409	.	0.221905	0.39687	N	0.001289	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	10.852	0.46775	0.0:0.0:0.5774:0.4226	.	.	.	.	X	1270	.	ENSP00000363868:R1270X	R	-	1	2	ABCA1	106616313	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.691000	0.54720	2.548000	0.85928	0.455000	0.32223	CGA		0.468	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		5	25	0	0	0	1	0	5	25				
IGKV1D-13	28902	broad.mit.edu	37	2	90193208	90193208	+	RNA	SNP	C	C	T	rs372210684		TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr2:90193208C>T	ENST00000390275.2	+	0	315									immunoglobulin kappa variable 1D-13																		CCATCACTTGCCGGGCAAGTC	0.512																																						ENST00000390275.2																			0															C		0,3760		0,0,1880	120.0	94.0	102.0			-4.9	0.0	2		102	3,8203		0,3,4100	no	intergenic				0,3,5980	TT,TC,CC		0.0366,0.0,0.0251			90193208	3,11963	1880	4103	5983			0							g.chr2:90193208C>T	X17262		2p11.2	2014-05-06			ENSG00000211630	ENSG00000276566		"""Immunoglobulins / IGK locus"""	5747	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000188271		2.37:g.90193208C>T														0	315	+									RNA	SNP	ENST00000390275.2	37																																																																																						0.512	IGKV1D-13-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323146.2	NG_000833		4	122	0	0	0	1	0	4	122				
MST1R	4486	broad.mit.edu	37	3	49932714	49932714	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr3:49932714G>A	ENST00000296474.3	-	14	3184	c.3157C>T	c.(3157-3159)Cgg>Tgg	p.R1053W	MST1R_ENST00000344206.4_Missense_Mutation_p.R1004W	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1053					cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GACTCTTTCCGCAGCAGTGGC	0.567																																						ENST00000296474.3																			0				cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37						c.(3157-3159)Cgg>Tgg		macrophage stimulating 1 receptor (c-met-related tyrosine kinase)							150.0	144.0	146.0					3																	49932714		2203	4300	6503	SO:0001583	missense	4486				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	g.chr3:49932714G>A	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.3157C>T	3.37:g.49932714G>A	ENSP00000296474:p.Arg1053Trp					MST1R_ENST00000344206.4_Missense_Mutation_p.R1004W	p.R1053W	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)	14	3184	-			1053					B5A944|B5A945|B5A946|B5A947	Missense_Mutation	SNP	ENST00000296474.3	37	c.3157C>T	CCDS2807.1	.	.	.	.	.	.	.	.	.	.	g	13.76	2.332890	0.41297	.	.	ENSG00000164078	ENST00000296474;ENST00000344206	T;T	0.10288	2.89;2.89	5.84	1.71	0.24356	.	0.615148	0.17959	N	0.156241	T	0.18173	0.0436	M	0.61703	1.905	0.09310	N	1	D	0.71674	0.998	P	0.53185	0.72	T	0.04065	-1.0980	10	0.62326	D	0.03	-2.2724	8.0852	0.30769	0.1508:0.0:0.6705:0.1787	.	1053	Q04912	RON_HUMAN	W	1053;1004	ENSP00000296474:R1053W;ENSP00000341325:R1004W	ENSP00000296474:R1053W	R	-	1	2	MST1R	49907718	0.000000	0.05858	0.363000	0.25875	0.029000	0.11900	0.091000	0.15046	0.826000	0.34661	-0.215000	0.12644	CGG		0.567	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1			4	98	0	0	0	1	0	4	98				
STT3A	3703	broad.mit.edu	37	11	125483004	125483004	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr11:125483004G>T	ENST00000529196.1	+	14	1692	c.1486G>T	c.(1486-1488)Gat>Tat	p.D496Y	STT3A_ENST00000392708.4_Missense_Mutation_p.D496Y|STT3A_ENST00000531491.1_Missense_Mutation_p.D404Y			P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	496					cellular protein metabolic process (GO:0044267)|co-translational protein modification (GO:0043686)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		CCGTGGTGGGGATGGCAGTAG	0.483																																						ENST00000392708.4																			0				NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33						c.(1486-1488)Gat>Tat		STT3A, subunit of the oligosaccharyltransferase complex (catalytic)							181.0	168.0	172.0					11																	125483004		2201	4299	6500	SO:0001583	missense	3703				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity	g.chr11:125483004G>T	BC020965	CCDS8458.1, CCDS60998.1	11q23.3	2013-03-06	2013-03-06	2006-02-07	ENSG00000134910	ENSG00000134910	2.4.99.18		6172	protein-coding gene	gene with protein product	"""dolichyl-diphosphooligosaccharide protein glycotransferase"""	601134	"""integral membrane protein 1"", ""STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae)"", ""STT3A, cataylic subunit of the oligosaccharyltransferase complex"""	ITM1		8941377, 8634329, 10234787	Standard	NM_152713		Approved	TMC, MGC9042, STT3-A	uc001qcd.2	P46977	OTTHUMG00000165852	ENST00000529196.1:c.1486G>T	11.37:g.125483004G>T	ENSP00000436962:p.Asp496Tyr					STT3A_ENST00000529196.1_Missense_Mutation_p.D496Y|STT3A_ENST00000531491.1_Missense_Mutation_p.D404Y	p.D496Y	NM_001278503.1|NM_001278504.1|NM_152713.3	NP_001265432.1|NP_001265433.1|NP_689926.1	P46977	STT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)	13	1645	+	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)	496					B4DJ24|E9PNQ1|Q86XU9|Q8TE35|Q8WUB4	Missense_Mutation	SNP	ENST00000529196.1	37	c.1486G>T	CCDS8458.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.091628	0.76756	.	.	ENSG00000134910	ENST00000392708;ENST00000529196;ENST00000531491	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.83959	0.5367	M	0.92219	3.285	0.80722	D	1	P;B	0.47762	0.9;0.314	P;B	0.54174	0.744;0.178	D	0.87053	0.2148	9	0.87932	D	0	-19.6671	19.8035	0.96518	0.0:0.0:1.0:0.0	.	404;496	B4DJ24;P46977	.;STT3A_HUMAN	Y	496;496;404	.	ENSP00000376472:D496Y	D	+	1	0	STT3A	124988214	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.869000	0.99810	2.771000	0.95319	0.563000	0.77884	GAT		0.483	STT3A-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386691.1	NM_152713		7	73	1	0	2.7689e-08	1	3.38421e-08	7	73				
SIRPB1	10326	broad.mit.edu	37	20	1592130	1592130	+	Intron	SNP	G	G	A			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr20:1592130G>A	ENST00000381605.4	-	1	141				SIRPB1_ENST00000381596.1_5'UTR|SIRPB1_ENST00000568365.1_Silent_p.D102D|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000279477.7_Silent_p.D102D|RP4-576H24.4_ENST00000564763.1_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1						cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GGATGGAAAAGTCCATGTTGT	0.512																																						ENST00000279477.7																			0				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						c.(304-306)gaC>gaT		signal-regulatory protein beta 1							113.0	128.0	124.0					20																	1592130		446	1341	1787	SO:0001627	intron_variant	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1592130G>A	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.76+8384C>T	20.37:g.1592130G>A						SIRPB1_ENST00000381605.4_Intron|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000381596.1_5'UTR|SIRPB1_ENST00000568365.1_Silent_p.D102D|RP4-576H24.4_ENST00000564763.1_Intron	p.D102D	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN			2	370	-			102	D -> N (in Ref. 1; CAA71404).		Ig-like V-type.		A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Silent	SNP	ENST00000381605.4	37	c.306C>T	CCDS13019.1																																																																																				0.512	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		13	14	0	0	0	1	0	13	14				
FZD7	8324	broad.mit.edu	37	2	202899587	202899587	+	Missense_Mutation	SNP	C	C	G			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr2:202899587C>G	ENST00000286201.1	+	1	278	c.217C>G	c.(217-219)Cac>Gac	p.H73D	RP11-107N15.1_ENST00000608741.1_lincRNA	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled class receptor 7	73	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of ectodermal cell fate specification (GO:0042666)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of catenin import into nucleus (GO:0035412)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|stem cell maintenance (GO:0019827)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						CCTGCTGGGCCACACGAACCA	0.612																																						ENST00000286201.1																			0				breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						c.(217-219)Cac>Gac		frizzled family receptor 7							127.0	111.0	116.0					2																	202899587		2203	4300	6503	SO:0001583	missense	8324				axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr2:202899587C>G	AB010881	CCDS2351.1	2q33	2014-01-29	2014-01-29		ENSG00000155760	ENSG00000155760		"""GPCR / Class F : Frizzled receptors"""	4045	protein-coding gene	gene with protein product		603410	"""frizzled (Drosophila) homolog 7"", ""frizzled homolog 7 (Drosophila)"", ""frizzled 7, seven transmembrane spanning receptor"", ""frizzled family receptor 7"""			9707618, 9813155	Standard	NM_003507		Approved	FzE3	uc002uyw.1	O75084	OTTHUMG00000132841	ENST00000286201.1:c.217C>G	2.37:g.202899587C>G	ENSP00000286201:p.His73Asp						p.H73D	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN			1	278	+			73			FZ.		O94816|Q53S59|Q96B74	Missense_Mutation	SNP	ENST00000286201.1	37	c.217C>G	CCDS2351.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.308277	0.60305	.	.	ENSG00000155760	ENST00000286201	D	0.81996	-1.56	5.0	4.12	0.48240	Frizzled domain (5);	0.000000	0.85682	D	0.000000	D	0.92896	0.7740	M	0.93678	3.445	0.80722	D	1	D	0.71674	0.998	D	0.77004	0.989	D	0.94182	0.7433	10	0.62326	D	0.03	.	14.7142	0.69254	0.1463:0.8537:0.0:0.0	.	73	O75084	FZD7_HUMAN	D	73	ENSP00000286201:H73D	ENSP00000286201:H73D	H	+	1	0	FZD7	202607832	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	6.072000	0.71238	1.077000	0.40990	0.313000	0.20887	CAC		0.612	FZD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256314.1	NM_003507		9	23	0	0	0	1	0	9	23				
TRIM28	10155	broad.mit.edu	37	19	59060745	59060745	+	Silent	SNP	G	G	A	rs373664048		TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr19:59060745G>A	ENST00000253024.5	+	13	1999	c.1710G>A	c.(1708-1710)gaG>gaA	p.E570E	TRIM28_ENST00000341753.6_Silent_p.E488E	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	570					convergent extension involved in axis elongation (GO:0060028)|DNA repair (GO:0006281)|embryonic placenta morphogenesis (GO:0060669)|epithelial to mesenchymal transition (GO:0001837)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|Krueppel-associated box domain binding (GO:0035851)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		CTGCCACTGAGGGCCCTGAGA	0.637																																						ENST00000253024.5																			0				biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19						c.(1708-1710)gaG>gaA		tripartite motif containing 28				0,4406		0,0,2203	112.0	123.0	119.0		1710	-1.6	0.5	19		119	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TRIM28	NM_005762.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		570/836	59060745	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10155				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding	g.chr19:59060745G>A		CCDS12985.1	19q13.4	2014-06-13	2011-01-25			ENSG00000130726		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	16384	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 157"""	601742	"""tripartite motif-containing 28"""			11331580, 11226167	Standard	NM_005762		Approved	TIF1B, KAP1, TF1B, RNF96, PPP1R157	uc002qtg.1	Q13263		ENST00000253024.5:c.1710G>A	19.37:g.59060745G>A						TRIM28_ENST00000341753.6_Silent_p.E488E	p.E570E	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)	13	1999	+		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	570					O00677|Q7Z632|Q93040|Q96IM1	Silent	SNP	ENST00000253024.5	37	c.1710G>A	CCDS12985.1																																																																																				0.637	TRIM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467074.1	NM_005762		33	76	0	0	0	1	0	33	76				
BDNF	627	broad.mit.edu	37	11	27679584	27679584	+	Silent	SNP	T	T	C			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr11:27679584T>C	ENST00000525528.1	-	1	1621	c.528A>G	c.(526-528)caA>caG	p.Q176Q	BDNF_ENST00000584049.1_5'UTR|BDNF_ENST00000418212.1_Silent_p.Q176Q|BDNF_ENST00000395981.3_Silent_p.Q176Q|BDNF_ENST00000533246.1_Silent_p.Q176Q|BDNF_ENST00000395986.2_Silent_p.Q191Q|BDNF-AS_ENST00000530313.1_RNA|BDNF-AS_ENST00000499568.2_RNA|BDNF_ENST00000395980.2_Silent_p.Q176Q|BDNF-AS_ENST00000502161.2_RNA|BDNF_ENST00000533131.1_Silent_p.Q176Q|BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000532997.1_Silent_p.Q176Q|BDNF_ENST00000314915.6_Silent_p.Q184Q|BDNF_ENST00000525950.1_Silent_p.Q176Q|BDNF-AS_ENST00000499008.3_RNA|BDNF_ENST00000356660.4_Silent_p.Q176Q|BDNF_ENST00000420794.1_Silent_p.Q176Q|BDNF_ENST00000395978.3_Silent_p.Q176Q|BDNF-AS_ENST00000530686.1_RNA|BDNF_ENST00000439476.2_Silent_p.Q176Q|BDNF_ENST00000395983.3_Silent_p.Q176Q|BDNF-AS_ENST00000500662.2_RNA|BDNF_ENST00000530861.1_Silent_p.Q176Q|BDNF_ENST00000438929.1_Silent_p.Q258Q|BDNF-AS_ENST00000532965.1_RNA	NM_170735.5	NP_733931.1	P23560	BDNF_HUMAN	brain-derived neurotrophic factor	176					axon extension (GO:0048675)|axon guidance (GO:0007411)|axon target recognition (GO:0007412)|behavioral fear response (GO:0001662)|chronic inflammatory response (GO:0002544)|circadian rhythm (GO:0007623)|dendrite development (GO:0016358)|dendrite extension (GO:0097484)|feeding behavior (GO:0007631)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glutamate secretion (GO:0014047)|inner ear development (GO:0048839)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neuron recognition (GO:0008038)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of synapse assembly (GO:0051965)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of retinal cell programmed cell death (GO:0046668)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|response to anesthetic (GO:0072347)|response to fluoxetine (GO:0014076)|response to hormone (GO:0009725)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to vitamin A (GO:0033189)|taste bud development (GO:0061193)|ureteric bud development (GO:0001657)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	growth factor activity (GO:0008083)			breast(1)|large_intestine(3)|lung(2)	6						ATTGCTTCAGTTGGCCTTTTG	0.502																																						ENST00000525528.1																			0				breast(1)|large_intestine(3)|lung(2)	6						c.(526-528)caA>caG		brain-derived neurotrophic factor							215.0	211.0	212.0					11																	27679584		2202	4299	6501	SO:0001819	synonymous_variant	627					extracellular region	growth factor activity	g.chr11:27679584T>C	AB038670	CCDS7865.1, CCDS7866.1, CCDS44558.1, CCDS41628.1	11p14.1	2014-01-30			ENSG00000176697	ENSG00000176697		"""Endogenous ligands"""	1033	protein-coding gene	gene with protein product	"""neurotrophin"""	113505				2236018, 1889806, 17942328, 17493809	Standard	NM_170731		Approved		uc009yje.3	P23560	OTTHUMG00000178797	ENST00000525528.1:c.528A>G	11.37:g.27679584T>C						BDNF_ENST00000395981.3_Silent_p.Q176Q|BDNF-AS_ENST00000499568.2_RNA|BDNF_ENST00000533246.1_Silent_p.Q176Q|BDNF_ENST00000356660.4_Silent_p.Q176Q|BDNF_ENST00000438929.1_Silent_p.Q258Q|BDNF-AS_ENST00000499008.3_RNA|BDNF_ENST00000395980.2_Silent_p.Q176Q|BDNF-AS_ENST00000502161.2_RNA|BDNF_ENST00000584049.1_5'UTR|BDNF-AS_ENST00000530313.1_RNA|BDNF_ENST00000533131.1_Silent_p.Q176Q|BDNF_ENST00000314915.6_Silent_p.Q184Q|BDNF_ENST00000395986.2_Silent_p.Q191Q|BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000439476.2_Silent_p.Q176Q|BDNF_ENST00000420794.1_Silent_p.Q176Q|BDNF_ENST00000395983.3_Silent_p.Q176Q|BDNF-AS_ENST00000530686.1_RNA|BDNF_ENST00000530861.1_Silent_p.Q176Q|BDNF-AS_ENST00000500662.2_RNA|BDNF-AS_ENST00000532965.1_RNA|BDNF_ENST00000418212.1_Silent_p.Q176Q|BDNF_ENST00000532997.1_Silent_p.Q176Q|BDNF_ENST00000525950.1_Silent_p.Q176Q|BDNF_ENST00000395978.3_Silent_p.Q176Q	p.Q176Q	NM_170735.5	NP_733931.1	P23560	BDNF_HUMAN			1	1621	-			176					A7LA85|A7LA92|D3DQZ2|Q598Q1|Q6DN19|Q6YNR2|Q6YNR3|Q9BYY7|Q9UC24	Silent	SNP	ENST00000525528.1	37	c.528A>G	CCDS7866.1																																																																																				0.502	BDNF-016	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388135.1	NM_170735		11	115	0	0	0	1	0	11	115				
CYP2D6	1565	broad.mit.edu	37	22	42525129	42525129	+	Silent	SNP	G	G	T			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr22:42525129G>T	ENST00000360608.5	-	3	525	c.411C>A	c.(409-411)tcC>tcA	p.S137S	NDUFA6-AS1_ENST00000608288.1_RNA|CYP2D6_ENST00000389970.3_Silent_p.S137S|NDUFA6-AS1_ENST00000416037.2_RNA|CYP2D6_ENST00000359033.4_Intron|NDUFA6-AS1_ENST00000608491.1_RNA|NDUFA6-AS1_ENST00000439129.1_RNA	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	137					alkaloid catabolic process (GO:0009822)|alkaloid metabolic process (GO:0009820)|coumarin metabolic process (GO:0009804)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|isoquinoline alkaloid metabolic process (GO:0033076)|monoterpenoid metabolic process (GO:0016098)|negative regulation of binding (GO:0051100)|negative regulation of cellular organofluorine metabolic process (GO:0090350)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21					Abiraterone(DB05812)|Acebutolol(DB01193)|Acetaminophen(DB00316)|Ajmaline(DB01426)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alprenolol(DB00866)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amoxapine(DB00543)|Amphetamine(DB00182)|Amprenavir(DB00701)|Amsacrine(DB00276)|Antipyrine(DB01435)|Aprindine(DB01429)|Arformoterol(DB01274)|Aripiprazole(DB01238)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzatropine(DB00245)|Benzyl alcohol(DB06770)|Bepridil(DB01244)|Betaxolol(DB00195)|Bicalutamide(DB01128)|Biperiden(DB00810)|Bisoprolol(DB00612)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Caffeine(DB00201)|Captopril(DB01197)|Carbinoxamine(DB00748)|Carteolol(DB00521)|Carvedilol(DB01136)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Cisapride(DB00604)|Citalopram(DB00215)|Clemastine(DB00283)|Clevidipine(DB04920)|Clomipramine(DB01242)|Clonidine(DB00575)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Darifenacin(DB00496)|Debrisoquin(DB04840)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dihydrocodeine(DB01551)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronedarone(DB04855)|Duloxetine(DB00476)|Efavirenz(DB00625)|Eletriptan(DB00216)|Encainide(DB01228)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erlotinib(DB00530)|Escitalopram(DB01175)|Ethylmorphine(DB01466)|Etoricoxib(DB01628)|Felodipine(DB01023)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fingolimod(DB08868)|Flecainide(DB01195)|Flunarizine(DB04841)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Galantamine(DB00674)|Gefitinib(DB00317)|Glutethimide(DB01437)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Histamine Phosphate(DB00667)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Hydroxychloroquine(DB01611)|Hydroxyurea(DB01005)|Hydroxyzine(DB00557)|Idarubicin(DB01177)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Isoniazid(DB00951)|Itraconazole(DB01167)|Ketoconazole(DB01026)|L-DOPA(DB01235)|Labetalol(DB00598)|Lansoprazole(DB00448)|Lercanidipine(DB00528)|Levomilnacipran(DB08918)|Lidocaine(DB00281)|Lisuride(DB00589)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Lovastatin(DB00227)|Lumefantrine(DB06708)|Maprotiline(DB00934)|Mefloquine(DB00358)|Mepyramine(DB06691)|Mequitazine(DB01071)|Mesoridazine(DB00933)|Methadone(DB00333)|Methamphetamine(DB01577)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Methylnaltrexone(DB06800)|Methylphenidate(DB00422)|Methyprylon(DB01107)|Metoclopramide(DB01233)|Metoprolol(DB00264)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midodrine(DB00211)|Mifepristone(DB00834)|Minaprine(DB00805)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Morphine(DB00295)|Nateglinide(DB00731)|Nebivolol(DB04861)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niacin(DB00627)|Nicardipine(DB00622)|Nicergoline(DB00699)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitrofural(DB00336)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxamniquine(DB01096)|Oxprenolol(DB01580)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paliperidone(DB01267)|Palonosetron(DB00377)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Pergolide(DB01186)|Perhexiline(DB01074)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenformin(DB00914)|Phentermine(DB00191)|Pimozide(DB01100)|Pindolol(DB00960)|Pioglitazone(DB01132)|Piperazine(DB00592)|Pipotiazine(DB01621)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Primaquine(DB01087)|Procainamide(DB01035)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Pyrimethamine(DB00205)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Remoxipride(DB00409)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivastigmine(DB00989)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tapentadol(DB06204)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Terbinafine(DB00857)|Tetrabenazine(DB04844)|Theophylline(DB00277)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Timolol(DB00373)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tolterodine(DB01036)|Trabectedin(DB05109)|Tramadol(DB00193)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Trospium(DB00209)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vinorelbine(DB00361)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Ziprasidone(DB00246)|Zolpidem(DB00425)	TGCGCAAGGTGGAGACGGAGA	0.687																																						ENST00000360608.5																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(409-411)tcC>tcA		cytochrome P450, family 2, subfamily D, polypeptide 6							23.0	28.0	27.0					22																	42525129		2035	4163	6198	SO:0001819	synonymous_variant	1565						electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	g.chr22:42525129G>T	M20403	CCDS33657.1, CCDS46721.1	22q13.1	2014-09-17	2003-01-14		ENSG00000100197	ENSG00000100197		"""Cytochrome P450s"""	2625	protein-coding gene	gene with protein product		124030	"""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6"", ""cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2"", ""cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2"", ""cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2"", ""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2"""	CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP		8449513	Standard	NM_000106		Approved	CPD6, P450-DB1, CYP2D, P450C2D	uc003bce.3	P10635	OTTHUMG00000150918	ENST00000360608.5:c.411C>A	22.37:g.42525129G>T						CYP2D6_ENST00000359033.4_Intron|NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6-AS1_ENST00000416037.1_RNA|CYP2D6_ENST00000389970.3_Silent_p.S137S	p.S137S	NM_000106.5	NP_000097.3	Q6NWU0	Q6NWU0_HUMAN			3	525	-			137					Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Silent	SNP	ENST00000360608.5	37	c.411C>A	CCDS46721.1																																																																																				0.687	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320525.1			3	33	1	0	0.004672	1	0.0051392	3	33				
ZP2	7783	broad.mit.edu	37	16	21209089	21209089	+	Missense_Mutation	SNP	C	C	T	rs190164659	byFrequency	TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr16:21209089C>T	ENST00000574002.1	-	19	2575	c.2093G>A	c.(2092-2094)cGa>cAa	p.R698Q	AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000574091.1_Missense_Mutation_p.R689Q|ZP2_ENST00000219593.4_Missense_Mutation_p.R698Q			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	698					binding of sperm to zona pellucida (GO:0007339)|intracellular protein transport (GO:0006886)|multicellular organism reproduction (GO:0032504)|prevention of polyspermy (GO:0060468)|signal transduction (GO:0007165)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|coreceptor activity (GO:0015026)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		AAACTTACCTCGTGAGCCAAC	0.483													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		20604	0.0		0.0	False		,,,				2504	0.0					ENST00000574002.1																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41						c.(2092-2094)cGa>cAa		zona pellucida glycoprotein 2 (sperm receptor)							179.0	149.0	159.0					16																	21209089		2200	4300	6500	SO:0001583	missense	7783				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity	g.chr16:21209089C>T	M90366	CCDS10596.1, CCDS73843.1	16p12	2014-07-04			ENSG00000103310	ENSG00000103310		"""Zona pellucida glycoproteins"""	13188	protein-coding gene	gene with protein product		182888				8385033	Standard	XM_005255562		Approved	ZPA	uc002dii.2	Q05996	OTTHUMG00000090681	ENST00000574002.1:c.2093G>A	16.37:g.21209089C>T	ENSP00000460971:p.Arg698Gln					ZP2_ENST00000574091.1_Missense_Mutation_p.R689Q|AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000219593.4_Missense_Mutation_p.R698Q	p.R698Q			Q05996	ZP2_HUMAN		GBM - Glioblastoma multiforme(48;0.0573)	19	2575	-			698					B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Missense_Mutation	SNP	ENST00000574002.1	37	c.2093G>A	CCDS10596.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	6.071	0.381402	0.11466	.	.	ENSG00000103310	ENST00000219593	T	0.79033	-1.23	4.09	-8.18	0.01053	.	1.269890	0.05455	N	0.550178	T	0.58452	0.2123	L	0.34521	1.04	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.06405	0.002;0.002	T	0.43750	-0.9372	10	0.11794	T	0.64	-0.3278	6.2233	0.20693	0.2237:0.1574:0.0:0.6189	.	689;698	Q4VAP1;Q05996	.;ZP2_HUMAN	Q	698	ENSP00000219593:R698Q	ENSP00000219593:R698Q	R	-	2	0	ZP2	21116590	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.177000	0.01261	-1.880000	0.01125	-2.835000	0.00106	CGA		0.483	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207365.2			4	38	0	0	0	1	0	4	38				
CACNA1S	779	broad.mit.edu	37	1	201046246	201046246	+	Silent	SNP	C	C	T	rs143999390		TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr1:201046246C>T	ENST00000362061.3	-	12	1855	c.1629G>A	c.(1627-1629)acG>acA	p.T543T	CACNA1S_ENST00000367338.3_Silent_p.T543T	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	543					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TGCTCAGCGACGTCCAATATC	0.602																																						ENST00000362061.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.(1627-1629)acG>acA		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						79.0	73.0	75.0					1																	201046246		2203	4300	6503	SO:0001819	synonymous_variant	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201046246C>T	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.1629G>A	1.37:g.201046246C>T						CACNA1S_ENST00000367338.3_Silent_p.T543T	p.T543T	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN			12	1855	-			543					A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	ENST00000362061.3	37	c.1629G>A	CCDS1407.1																																																																																				0.602	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		5	22	0	0	0	1	0	5	22				
CTPS2	56474	broad.mit.edu	37	X	16707690	16707690	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chrX:16707690C>A	ENST00000443824.1	-	8	1498	c.755G>T	c.(754-756)cGa>cTa	p.R252L	CTPS2_ENST00000380241.3_Missense_Mutation_p.R252L|CTPS2_ENST00000359276.4_Missense_Mutation_p.R252L	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2	252					'de novo' CTP biosynthetic process (GO:0044210)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP synthase activity (GO:0003883)			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					CACAGGAACTCGGTATGTGGA	0.388																																						ENST00000443824.1																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(754-756)cGa>cTa		CTP synthase 2							125.0	109.0	115.0					X																	16707690		2203	4300	6503	SO:0001583	missense	56474				glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity	g.chrX:16707690C>A	AF086422	CCDS14175.1	Xp22	2012-05-02	2012-05-02		ENSG00000047230	ENSG00000047230	6.3.4.2		2520	protein-coding gene	gene with protein product		300380	"""CTP synthase II"""			10899599	Standard	NM_001144002		Approved		uc004cxm.3	Q9NRF8	OTTHUMG00000021193	ENST00000443824.1:c.755G>T	X.37:g.16707690C>A	ENSP00000401264:p.Arg252Leu					CTPS2_ENST00000359276.4_Missense_Mutation_p.R252L|CTPS2_ENST00000380241.3_Missense_Mutation_p.R252L	p.R252L	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN			8	1498	-	Hepatocellular(33;0.0997)		252					B3KWM2|Q9BRI0|Q9H809|Q9H8K9	Missense_Mutation	SNP	ENST00000443824.1	37	c.755G>T	CCDS14175.1	.	.	.	.	.	.	.	.	.	.	c	20.5	3.999693	0.74818	.	.	ENSG00000047230	ENST00000443824;ENST00000380241;ENST00000359276	T;T;T	0.44083	0.93;0.93;0.93	5.81	4.95	0.65309	CTP synthase, N-terminal (1);	0.112886	0.39615	N	0.001309	T	0.58395	0.2119	L	0.56199	1.76	0.53688	D	0.999976	D	0.58620	0.983	D	0.66847	0.947	T	0.60757	-0.7200	10	0.66056	D	0.02	-7.4482	14.1151	0.65149	0.0:0.9264:0.0:0.0736	.	252	Q9NRF8	PYRG2_HUMAN	L	252	ENSP00000401264:R252L;ENSP00000369590:R252L;ENSP00000352222:R252L	ENSP00000352222:R252L	R	-	2	0	CTPS2	16617611	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	3.683000	0.54663	1.227000	0.43598	-0.203000	0.12734	CGA		0.388	CTPS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055906.1	NM_019857		23	16	1	0	5.45024e-15	1	6.8128e-15	23	16				
ZNF516	9658	broad.mit.edu	37	18	74091976	74091976	+	Silent	SNP	T	T	A			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr18:74091976T>A	ENST00000443185.2	-	4	2411	c.2094A>T	c.(2092-2094)ggA>ggT	p.G698G	ZNF516_ENST00000524431.2_5'UTR|RP11-504I13.3_ENST00000583287.1_RNA	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	698					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GGCCCTCCGCTCCCGTACTGG	0.587																																						ENST00000443185.2																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(2092-2094)ggA>ggT		zinc finger protein 516							55.0	57.0	57.0					18																	74091976		1976	4169	6145	SO:0001819	synonymous_variant	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74091976T>A	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.2094A>T	18.37:g.74091976T>A						ZNF516_ENST00000524431.2_5'UTR	p.G698G	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	4	2411	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	698						Silent	SNP	ENST00000443185.2	37	c.2094A>T																																																																																					0.587	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		6	36	0	0	0	1	0	6	36				
EPB41L5	57669	broad.mit.edu	37	2	120847945	120847945	+	Missense_Mutation	SNP	T	T	G			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr2:120847945T>G	ENST00000263713.5	+	12	1110	c.896T>G	c.(895-897)tTt>tGt	p.F299C	EPB41L5_ENST00000331393.4_Missense_Mutation_p.F299C|EPB41L5_ENST00000443902.2_Missense_Mutation_p.F299C|EPB41L5_ENST00000452780.1_Missense_Mutation_p.F299C|EPB41L5_ENST00000443124.1_Missense_Mutation_p.F299C	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	299	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actomyosin structure organization (GO:0031032)|apical constriction (GO:0003383)|axial mesoderm morphogenesis (GO:0048319)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ectoderm development (GO:0007398)|embryonic foregut morphogenesis (GO:0048617)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|in utero embryonic development (GO:0001701)|left/right axis specification (GO:0070986)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of protein binding (GO:0032091)|neural plate morphogenesis (GO:0001839)|paraxial mesoderm development (GO:0048339)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein binding (GO:0032092)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of establishment of protein localization (GO:0070201)|somite rostral/caudal axis specification (GO:0032525)|substrate-dependent cell migration, cell attachment to substrate (GO:0006931)|unidimensional cell growth (GO:0009826)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						GAACATACATTTGTCTTTAGA	0.383																																						ENST00000263713.5																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						c.(895-897)tTt>tGt		erythrocyte membrane protein band 4.1 like 5							117.0	114.0	115.0					2																	120847945		2203	4300	6503	SO:0001583	missense	57669					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	g.chr2:120847945T>G	AK023019	CCDS2130.1, CCDS54392.1, CCDS54393.1	2q14.2	2009-07-28			ENSG00000115109	ENSG00000115109			19819	protein-coding gene	gene with protein product		611730					Standard	NM_001184937		Approved	KIAA1548, FLJ12957, BE37, YMO1	uc002tmg.3	Q9HCM4	OTTHUMG00000131433	ENST00000263713.5:c.896T>G	2.37:g.120847945T>G	ENSP00000263713:p.Phe299Cys					EPB41L5_ENST00000331393.4_Missense_Mutation_p.F299C|EPB41L5_ENST00000443124.1_Missense_Mutation_p.F299C|EPB41L5_ENST00000443902.2_Missense_Mutation_p.F299C|EPB41L5_ENST00000452780.1_Missense_Mutation_p.F299C	p.F299C	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN			12	1110	+			299			FERM.		Q7Z5S1|Q8IZ12|Q9H975	Missense_Mutation	SNP	ENST00000263713.5	37	c.896T>G	CCDS2130.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.170341	0.78452	.	.	ENSG00000115109	ENST00000263713;ENST00000443902;ENST00000331393;ENST00000443124;ENST00000452780	D;D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41;-2.41	5.41	5.41	0.78517	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.95230	0.8453	M	0.88512	2.96	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.987;1.0;0.993;1.0	D	0.96045	0.9027	10	0.87932	D	0	.	15.7378	0.77859	0.0:0.0:0.0:1.0	.	299;299;299;299	Q9HCM4-3;Q9HCM4-4;Q9HCM4-2;Q9HCM4	.;.;.;E41L5_HUMAN	C	299	ENSP00000263713:F299C;ENSP00000393856:F299C;ENSP00000329687:F299C;ENSP00000393722:F299C;ENSP00000390439:F299C	ENSP00000263713:F299C	F	+	2	0	EPB41L5	120564415	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.862000	0.87013	2.184000	0.69523	0.477000	0.44152	TTT		0.383	EPB41L5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254230.2	NM_020909		20	56	0	0	0	1	0	20	56				
APBB2	323	broad.mit.edu	37	4	40829194	40829194	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr4:40829194A>G	ENST00000295974.8	-	14	2313	c.1684T>C	c.(1684-1686)Tcc>Ccc	p.S562P	RP11-632F7.3_ENST00000513127.1_RNA|APBB2_ENST00000502841.1_Missense_Mutation_p.S14P|APBB2_ENST00000543538.1_Missense_Mutation_p.S14P|Y_RNA_ENST00000384466.1_RNA|APBB2_ENST00000504305.1_Missense_Mutation_p.S14P|APBB2_ENST00000506352.1_Missense_Mutation_p.S541P|APBB2_ENST00000508593.1_Missense_Mutation_p.S563P|APBB2_ENST00000513140.1_Missense_Mutation_p.S541P	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	562	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.				axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|extracellular matrix organization (GO:0030198)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|transcription factor binding (GO:0008134)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						TCCTGTAAGGAGCTGCAGGCC	0.532																																					Ovarian(3;20 75 16686 49997)	ENST00000295974.8																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						c.(1684-1686)Tcc>Ccc		amyloid beta (A4) precursor protein-binding, family B, member 2							167.0	167.0	167.0					4																	40829194		2022	4183	6205	SO:0001583	missense	323				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding	g.chr4:40829194A>G	U62325	CCDS43224.1, CCDS54760.1, CCDS54761.1, CCDS54762.1	4p13	2011-10-10	2008-07-31		ENSG00000163697	ENSG00000163697			582	protein-coding gene	gene with protein product	"""Fe65-like"""	602710				8955346, 9585438	Standard	NM_173075		Approved	FE65L, FE65L1, MGC35575	uc003gvn.3	Q92870	OTTHUMG00000160416	ENST00000295974.8:c.1684T>C	4.37:g.40829194A>G	ENSP00000295974:p.Ser562Pro					APBB2_ENST00000506352.1_Missense_Mutation_p.S541P|APBB2_ENST00000504305.1_Missense_Mutation_p.S14P|APBB2_ENST00000543538.1_Missense_Mutation_p.S14P|APBB2_ENST00000502841.1_Missense_Mutation_p.S14P|APBB2_ENST00000513140.1_Missense_Mutation_p.S541P|APBB2_ENST00000508593.1_Missense_Mutation_p.S563P	p.S562P	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN			14	2313	-			562			PID 1.		B4DSL4|E9PG87|Q8IUI6	Missense_Mutation	SNP	ENST00000295974.8	37	c.1684T>C	CCDS54761.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.52|18.52	3.642029|3.642029	0.67244|0.67244	.|.	.|.	ENSG00000163697|ENSG00000163697	ENST00000513611|ENST00000295974;ENST00000316212;ENST00000543538;ENST00000513140;ENST00000508593;ENST00000502841;ENST00000506352;ENST00000504305;ENST00000512510;ENST00000510670;ENST00000514920;ENST00000513516	.|T;T;T;T;T;T;T;T	.|0.49432	.|2.31;0.8;2.36;2.31;0.8;2.35;0.8;0.78	5.89|5.89	3.33|3.33	0.38152|0.38152	.|.	.|0.167857	.|0.56097	.|D	.|0.000037	T|T	0.36771|0.36771	0.0979|0.0979	N|N	0.08118|0.08118	0|0	0.58432|0.58432	D|D	0.999994|0.999994	.|P;P;P	.|0.47253	.|0.822;0.889;0.892	.|P;P;P	.|0.51170	.|0.46;0.661;0.46	T|T	0.11518|0.11518	-1.0584|-1.0584	5|10	.|0.30854	.|T	.|0.27	-13.591|-13.591	12.8694|12.8694	0.57957|0.57957	0.7441:0.2559:0.0:0.0|0.7441:0.2559:0.0:0.0	.|.	.|563;541;562	.|E9PG87;Q92870-2;Q92870	.|.;.;APBB2_HUMAN	P|P	531|562;561;14;541;563;14;541;14;76;14;14;14	.|ENSP00000295974:S562P;ENSP00000439357:S14P;ENSP00000426018:S541P;ENSP00000427211:S563P;ENSP00000425802:S14P;ENSP00000421539:S541P;ENSP00000423765:S14P;ENSP00000426429:S76P	.|ENSP00000295974:S562P	L|S	-|-	2|1	0|0	APBB2|APBB2	40523951|40523951	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.777000|0.777000	0.43975|0.43975	5.668000|5.668000	0.68074|0.68074	0.423000|0.423000	0.26033|0.26033	0.460000|0.460000	0.39030|0.39030	CTC|TCC		0.532	APBB2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360523.3	NM_173075		7	84	0	0	0	1	0	7	84				
ADRA1A	148	broad.mit.edu	37	8	26623613	26623613	+	Silent	SNP	A	A	G			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr8:26623613A>G	ENST00000354550.4	-	3	1522	c.1323T>C	c.(1321-1323)caT>caC	p.H441H	ADRA1A_ENST00000519229.1_Intron|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000380582.3_Intron|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000380586.1_Intron	NM_033304.2	NP_150647.2	P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	0					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	TAAAATTCACATGCTTGATAT	0.443																																						ENST00000354550.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36						c.(1321-1323)caT>caC		adrenoceptor alpha 1A	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)						158.0	148.0	152.0					8																	26623613		2203	4300	6503	SO:0001819	synonymous_variant	148				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr8:26623613A>G	L31774	CCDS6052.1, CCDS6053.1, CCDS6054.1, CCDS34869.1	8p21.2	2012-08-08	2012-05-09		ENSG00000120907	ENSG00000120907		"""GPCR / Class A : Adrenoceptors : alpha"""	277	protein-coding gene	gene with protein product		104221	"""adrenergic, alpha-1A-, receptor"""	ADRA1C			Standard	NM_033303		Approved	ADRA1L1	uc003xfh.1	P35348	OTTHUMG00000099459	ENST00000354550.4:c.1323T>C	8.37:g.26623613A>G						ADRA1A_ENST00000380586.1_Intron|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000519229.1_Intron|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000380582.3_Intron	p.H441H	NM_033304.2	NP_150647.2	P35348	ADA1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	3	1522	-		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)	0					Q9NPY0	Silent	SNP	ENST00000354550.4	37	c.1323T>C	CCDS6053.1																																																																																				0.443	ADRA1A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000216928.1	NM_033303		14	61	0	0	0	1	0	14	61				
SHD	56961	broad.mit.edu	37	19	4282875	4282875	+	Silent	SNP	C	C	T	rs111528734		TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr19:4282875C>T	ENST00000543264.2	+	2	1769	c.306C>T	c.(304-306)gcC>gcT	p.A102A	SHD_ENST00000599689.1_Silent_p.A102A	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming protein D	102										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCTGGAAGCCGACACTGAGT	0.577																																						ENST00000543264.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14						c.(304-306)gcC>gcT		Src homology 2 domain containing transforming protein D							87.0	81.0	83.0					19																	4282875		2203	4300	6503	SO:0001819	synonymous_variant	56961							g.chr19:4282875C>T	BC007206	CCDS12125.1	19p13.3	2013-02-14				ENSG00000105251		"""SH2 domain containing"""	30633	protein-coding gene	gene with protein product		610481				9315092	Standard	NM_020209		Approved		uc002lzw.2	Q96IW2		ENST00000543264.2:c.306C>T	19.37:g.4282875C>T						SHD_ENST00000599689.1_Silent_p.A102A	p.A102A	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)	2	1769	+			102					Q96NC2	Silent	SNP	ENST00000543264.2	37	c.306C>T	CCDS12125.1																																																																																				0.577	SHD-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458082.1	NM_020209		17	43	0	0	0	1	0	17	43				
GBP4	115361	broad.mit.edu	37	1	89659075	89659075	+	Silent	SNP	C	C	T			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr1:89659075C>T	ENST00000355754.6	-	4	481	c.384G>A	c.(382-384)tcG>tcA	p.S128S		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	128	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		CAAAGATCCACGAGTCATTCT	0.433																																						ENST00000355754.6																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33						c.(382-384)tcG>tcA		guanylate binding protein 4							121.0	120.0	120.0					1																	89659075		2203	4300	6503	SO:0001819	synonymous_variant	115361					cytoplasm	GTP binding|GTPase activity	g.chr1:89659075C>T	AF288814	CCDS721.1	1p22.2	2008-02-05			ENSG00000162654	ENSG00000162654			20480	protein-coding gene	gene with protein product		612466				16689661	Standard	NM_052941		Approved	Mpa2	uc001dnb.3	Q96PP9	OTTHUMG00000010663	ENST00000355754.6:c.384G>A	1.37:g.89659075C>T							p.S128S	NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN		all cancers(265;0.00723)|Epithelial(280;0.0291)	4	481	-			128					B2R630|Q05D63|Q6NSL0|Q86T99	Silent	SNP	ENST00000355754.6	37	c.384G>A	CCDS721.1																																																																																				0.433	GBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029409.1	NM_052941		13	25	0	0	0	1	0	13	25				
PCDH12	51294	broad.mit.edu	37	5	141334957	141334957	+	Silent	SNP	C	C	T			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr5:141334957C>T	ENST00000231484.3	-	1	3670	c.2460G>A	c.(2458-2460)ccG>ccA	p.P820P	AC005740.6_ENST00000607378.1_RNA|PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	820					calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTACAGGGTCGGGGTGAGGT	0.612																																						ENST00000231484.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38						c.(2458-2460)ccG>ccA		protocadherin 12							50.0	47.0	48.0					5																	141334957		2203	4300	6503	SO:0001819	synonymous_variant	51294				neuron recognition	integral to plasma membrane	calcium ion binding	g.chr5:141334957C>T	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"""Cadherins / Protocadherins : Non-clustered"""	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.2460G>A	5.37:g.141334957C>T							p.P820P	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	3670	-		all_hematologic(541;0.0999)	820					Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Silent	SNP	ENST00000231484.3	37	c.2460G>A	CCDS4269.1																																																																																				0.612	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		5	28	0	0	0	1	0	5	28				
FAM120A	23196	broad.mit.edu	37	9	96294518	96294518	+	Missense_Mutation	SNP	C	C	G			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr9:96294518C>G	ENST00000277165.6	+	10	2010	c.1816C>G	c.(1816-1818)Cgt>Ggt	p.R606G	FAM120A_ENST00000340893.4_Missense_Mutation_p.R606G|FAM120A_ENST00000333936.5_Missense_Mutation_p.R634G|FAM120A_ENST00000475933.1_3'UTR	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	606						cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TAGGCCAGTTCGTCAGTATGT	0.433																																						ENST00000277165.6																			0				endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1816-1818)Cgt>Ggt		family with sequence similarity 120A							130.0	135.0	134.0					9																	96294518		2203	4300	6503	SO:0001583	missense	23196					cytoplasm|plasma membrane	RNA binding	g.chr9:96294518C>G	AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"""DNA polymerase-transactivated protein 1"", ""oxidative stess-associated Src activator"""	612265	"""chromosome 9 open reading frame 10"""	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.1816C>G	9.37:g.96294518C>G	ENSP00000277165:p.Arg606Gly					FAM120A_ENST00000475933.1_3'UTR|FAM120A_ENST00000340893.4_Missense_Mutation_p.R606G|FAM120A_ENST00000333936.5_Missense_Mutation_p.R634G	p.R606G	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN			10	2010	+			606					A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Missense_Mutation	SNP	ENST00000277165.6	37	c.1816C>G	CCDS6706.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.8|21.8	4.204146|4.204146	0.79127|0.79127	.|.	.|.	ENSG00000048828|ENSG00000048828	ENST00000446420|ENST00000277165;ENST00000333936;ENST00000340893;ENST00000427765	.|T;T;T;T	.|0.53423	.|0.62;0.62;0.62;0.62	5.99|5.99	5.99|5.99	0.97316|0.97316	.|.	.|0.076589	.|0.56097	.|D	.|0.000032	T|T	0.71626|0.71626	0.3362|0.3362	M|M	0.74647|0.74647	2.275|2.275	0.50171|0.50171	D|D	0.999854|0.999854	.|D;D;P;D	.|0.89917	.|0.99;1.0;0.872;1.0	.|P;D;P;D	.|0.87578	.|0.736;0.998;0.518;0.993	T|T	0.72421|0.72421	-0.4299|-0.4299	5|10	.|0.87932	.|D	.|0	-11.2654|-11.2654	20.4777|20.4777	0.99188|0.99188	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|606;634;606;606	.|Q9NZB2-4;Q9NZB2-6;Q9NZB2-5;Q9NZB2	.|.;.;.;F120A_HUMAN	L|G	448|606;634;606;28	.|ENSP00000277165:R606G;ENSP00000334918:R634G;ENSP00000344698:R606G;ENSP00000412440:R28G	.|ENSP00000277165:R606G	F|R	+|+	3|1	2|0	FAM120A|FAM120A	95334339|95334339	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.948000|4.948000	0.63590|0.63590	2.840000|2.840000	0.97914|0.97914	0.655000|0.655000	0.94253|0.94253	TTC|CGT		0.433	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053160.2	NM_014612		7	97	0	0	0	1	0	7	97				
DDX3Y	8653	broad.mit.edu	37	Y	15023867	15023867	+	Nonsense_Mutation	SNP	G	G	T			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chrY:15023867G>T	ENST00000336079.3	+	4	374	c.268G>T	c.(268-270)Gga>Tga	p.G90*	DDX3Y_ENST00000360160.4_Nonsense_Mutation_p.G90*	NM_001122665.1|NM_004660.3	NP_001116137.1|NP_004651.2	O15523	DDX3Y_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked	90						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|RNA binding (GO:0003723)			kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	5						ACGTGGAAGTGGATCAAGGGG	0.393																																						ENST00000336079.3																			0				kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	5						c.(268-270)Gga>Tga		DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked																																				SO:0001587	stop_gained	8653					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|RNA binding	g.chrY:15023867G>T	AF000984	CCDS14782.1	Yq11	2013-07-16	2013-07-16	2003-06-20	ENSG00000067048	ENSG00000067048		"""DEAD-boxes"""	2699	protein-coding gene	gene with protein product		400010	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide, Y chromosome"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, Y-linked"""	DBY		9381176	Standard	NM_004660		Approved		uc004fsv.2	O15523	OTTHUMG00000036324	ENST00000336079.3:c.268G>T	Y.37:g.15023867G>T	ENSP00000336725:p.Gly90*					DDX3Y_ENST00000360160.4_Nonsense_Mutation_p.G90*	p.G90*	NM_001122665.1|NM_004660.3	NP_001116137.1|NP_004651.2	O15523	DDX3Y_HUMAN			4	374	+			90					B4DK29|B4DXX7|Q8IYV7	Nonsense_Mutation	SNP	ENST00000336079.3	37	c.268G>T	CCDS14782.1																																																																																				0.393	DDX3Y-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088407.1	NM_004660		8	51	1	0	7.48243e-07	1	8.94638e-07	8	51				
NRXN3	9369	broad.mit.edu	37	14	79181239	79181239	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr14:79181239G>T	ENST00000554719.1	+	5	1173	c.682G>T	c.(682-684)Gcc>Tcc	p.A228S	NRXN3_ENST00000335750.5_Missense_Mutation_p.A228S	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GCTGTGGACTGCCATGCTCAA	0.592																																						ENST00000554719.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104						c.(682-684)Gcc>Tcc		neurexin 3							82.0	69.0	74.0					14																	79181239		2203	4300	6503	SO:0001583	missense	9369				angiogenesis|cell adhesion	integral to membrane		g.chr14:79181239G>T	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.682G>T	14.37:g.79181239G>T	ENSP00000451648:p.Ala228Ser					NRXN3_ENST00000335750.5_Missense_Mutation_p.A228S	p.A228S	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	5	1173	+		Renal(4;0.00876)	0			Laminin G-like.		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000554719.1	37	c.682G>T	CCDS9870.1	.	.	.	.	.	.	.	.	.	.	G	34	5.389799	0.95988	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750	T;T	0.79033	-1.23;-1.23	5.83	5.83	0.93111	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.88847	0.6548	.	.	.	0.80722	D	1	D;D	0.69078	0.997;0.97	D;D	0.91635	0.999;0.975	D	0.87829	0.2643	8	.	.	.	.	20.1082	0.97900	0.0:0.0:1.0:0.0	.	601;228	Q9Y4C0;Q9Y4C0-3	NRX3A_HUMAN;.	S	601;599;228;228	ENSP00000451648:A228S;ENSP00000338349:A228S	.	A	+	1	0	NRXN3	78250992	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.764000	0.94973	0.555000	0.69702	GCC		0.592	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	NM_001105250		3	37	1	0	1	1	1	3	37				
GRIN2A	2903	broad.mit.edu	37	16	9858336	9858336	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr16:9858336C>A	ENST00000396573.2	-	14	3374	c.3065G>T	c.(3064-3066)cGc>cTc	p.R1022L	GRIN2A_ENST00000562109.1_Missense_Mutation_p.R1022L|GRIN2A_ENST00000330684.3_Missense_Mutation_p.R1022L|GRIN2A_ENST00000535259.1_Missense_Mutation_p.R865L|GRIN2A_ENST00000404927.2_Missense_Mutation_p.R1022L|GRIN2A_ENST00000396575.2_Missense_Mutation_p.R1022L	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1022					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.R1022H(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGAATCCTGGCGTATGGAATC	0.532																																						ENST00000396573.2																			1	Substitution - Missense(1)	p.R1022H(1)	large_intestine(1)	NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(3064-3066)cGc>cTc		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						107.0	114.0	111.0					16																	9858336		2197	4300	6497	SO:0001583	missense	0				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9858336C>A		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3065G>T	16.37:g.9858336C>A	ENSP00000379818:p.Arg1022Leu					GRIN2A_ENST00000535259.1_Missense_Mutation_p.R865L|GRIN2A_ENST00000396575.2_Missense_Mutation_p.R1022L|GRIN2A_ENST00000562109.1_Missense_Mutation_p.R1022L|GRIN2A_ENST00000330684.3_Missense_Mutation_p.R1022L|GRIN2A_ENST00000404927.2_Missense_Mutation_p.R1022L	p.R1022L	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			14	3374	-			1022					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.3065G>T	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.816458	0.50527	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.12255	2.7;2.7;2.7;2.7;2.7	5.33	5.33	0.75918	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.050105	0.85682	D	0.000000	T	0.33789	0.0875	L	0.55103	1.725	0.80722	D	1	D;B;D	0.69078	0.996;0.057;0.997	D;B;D	0.81914	0.992;0.07;0.995	T	0.00920	-1.1514	9	.	.	.	.	18.0263	0.89270	0.0:1.0:0.0:0.0	.	865;1022;1022	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	L	1022;1022;865;1022;1022	ENSP00000379818:R1022L;ENSP00000385872:R1022L;ENSP00000441572:R865L;ENSP00000332549:R1022L;ENSP00000379820:R1022L	.	R	-	2	0	GRIN2A	9765837	1.000000	0.71417	0.991000	0.47740	0.817000	0.46193	7.376000	0.79658	2.491000	0.84063	0.655000	0.94253	CGC		0.532	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			5	78	1	0	0.00116845	1	0.00131152	5	78				
SIGLEC10	89790	broad.mit.edu	37	19	51918364	51918364	+	Splice_Site	SNP	T	T	G	rs562624986		TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr19:51918364T>G	ENST00000339313.5	-	8	1447		c.e8-2		CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000356298.5_Splice_Site|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000441969.3_Intron|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000442846.3_Intron|SIGLEC10_ENST00000432469.2_Intron|SIGLEC10_ENST00000439889.2_Splice_Site|SIGLEC10_ENST00000436984.2_Intron|SIGLEC10_ENST00000353836.5_Intron|SIGLEC10_ENST00000525998.1_Intron			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10						cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		TCGGGGAGTCTGAGGGGAGGG	0.682																																						ENST00000356298.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.e8-2		sialic acid binding Ig-like lectin 10							23.0	25.0	24.0					19																	51918364		2202	4300	6502	SO:0001630	splice_region_variant	89790				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr19:51918364T>G	AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15620	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 10 Ig-like lectin 7"", ""siglec-like gene 2"""	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.1331-2A>C	19.37:g.51918364T>G						SIGLEC10_ENST00000436984.2_Intron|SIGLEC10_ENST00000432469.2_Intron|SIGLEC10_ENST00000353836.5_Intron|SIGLEC10_ENST00000339313.5_Splice_Site|SIGLEC10_ENST00000439889.2_Splice_Site|SIGLEC10_ENST00000441969.3_Intron|SIGLEC10_ENST00000525998.1_Intron|SIGLEC10_ENST00000442846.3_Intron		NM_033130.4	NP_149121.2	Q96LC7	SIG10_HUMAN		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)	8	1447	-		all_neural(266;0.0199)						A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Splice_Site	SNP	ENST00000339313.5	37		CCDS12832.1	.	.	.	.	.	.	.	.	.	.	T	7.442	0.640975	0.14386	.	.	ENSG00000142512	ENST00000356298;ENST00000439889;ENST00000339313	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7877	0.46415	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SIGLEC10	56610176	1.000000	0.71417	0.426000	0.26672	0.061000	0.15899	3.682000	0.54656	1.813000	0.52934	0.459000	0.35465	.		0.682	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384620.2	NM_033130	Intron	3	14	0	0	0	1	0	3	14				
CKAP2L	150468	broad.mit.edu	37	2	113514387	113514387	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr2:113514387G>T	ENST00000302450.6	-	4	639	c.561C>A	c.(559-561)aaC>aaA	p.N187K	CKAP2L_ENST00000481732.1_5'UTR|CKAP2L_ENST00000541405.1_Missense_Mutation_p.N22K	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	187						centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						TATCGAGCAAGTTCTCTTTGT	0.323																																						ENST00000541405.1																			0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						c.(64-66)aaC>aaA		cytoskeleton associated protein 2-like							90.0	95.0	93.0					2																	113514387		2202	4300	6502	SO:0001583	missense	150468					centrosome		g.chr2:113514387G>T	AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.561C>A	2.37:g.113514387G>T	ENSP00000305204:p.Asn187Lys					CKAP2L_ENST00000481732.1_5'UTR|CKAP2L_ENST00000302450.6_Missense_Mutation_p.N187K	p.N22K			Q8IYA6	CKP2L_HUMAN			4	589	-			187					A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	Missense_Mutation	SNP	ENST00000302450.6	37	c.66C>A	CCDS2100.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.929637	0.52759	.	.	ENSG00000169607	ENST00000541405;ENST00000302450	T;T	0.24908	1.83;2.34	5.0	5.0	0.66597	.	0.161695	0.42294	D	0.000728	T	0.43500	0.1250	M	0.73598	2.24	0.37759	D	0.926253	D	0.57257	0.979	P	0.54026	0.74	T	0.51880	-0.8649	10	0.72032	D	0.01	-17.4544	14.5097	0.67776	0.0:0.0:1.0:0.0	.	187	Q8IYA6	CKP2L_HUMAN	K	22;187	ENSP00000438763:N22K;ENSP00000305204:N187K	ENSP00000305204:N187K	N	-	3	2	CKAP2L	113230858	0.866000	0.29940	0.990000	0.47175	0.141000	0.21300	0.972000	0.29409	2.705000	0.92388	0.585000	0.79938	AAC		0.323	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254082.2	NM_152515		5	30	1	0	3.59834e-05	1	4.12309e-05	5	30				
IGF1R	3480	broad.mit.edu	37	15	99467806	99467806	+	Missense_Mutation	SNP	A	A	C			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr15:99467806A>C	ENST00000268035.6	+	13	3286	c.2675A>C	c.(2674-2676)aAg>aCg	p.K892T	IGF1R_ENST00000558762.1_Missense_Mutation_p.K892T	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	892	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	GGAGGGGCCAAGCTAAACCGG	0.498																																						ENST00000268035.6																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(2674-2676)aAg>aCg		insulin-like growth factor 1 receptor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)						150.0	143.0	146.0					15																	99467806		2197	4297	6494	SO:0001583	missense	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99467806A>C	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.2675A>C	15.37:g.99467806A>C	ENSP00000268035:p.Lys892Thr					IGF1R_ENST00000558762.1_Missense_Mutation_p.K892T	p.K892T	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		13	3286	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		892			Fibronectin type-III 3.		B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	ENST00000268035.6	37	c.2675A>C	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	A	18.14	3.557487	0.65425	.	.	ENSG00000140443	ENST00000268035	T	0.51325	0.71	5.92	2.46	0.29980	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000011	T	0.32971	0.0847	N	0.05351	-0.065	0.45056	D	0.998074	P;B	0.45078	0.85;0.051	P;B	0.49140	0.601;0.038	T	0.08827	-1.0703	10	0.35671	T	0.21	.	9.8922	0.41296	0.8126:0.0:0.1874:0.0	.	892;892	C9J5X1;P08069	.;IGF1R_HUMAN	T	892	ENSP00000268035:K892T	ENSP00000268035:K892T	K	+	2	0	IGF1R	97285329	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	3.260000	0.51523	1.079000	0.41038	0.533000	0.62120	AAG		0.498	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		22	64	0	0	0	1	0	22	64				
MXRA5	25878	broad.mit.edu	37	X	3240572	3240572	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chrX:3240572C>T	ENST00000217939.6	-	5	3308	c.3154G>A	c.(3154-3156)Gac>Aac	p.D1052N		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1052						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AGTAAGGTGTCTTGAGTGCTT	0.458																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(3154-3156)Gac>Aac		matrix-remodelling associated 5							173.0	151.0	159.0					X																	3240572		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3240572C>T	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.3154G>A	X.37:g.3240572C>T	ENSP00000217939:p.Asp1052Asn						p.D1052N	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			5	3308	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	1052					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.3154G>A	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	c	0.387	-0.925343	0.02377	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.64991	-0.13	3.29	1.15	0.20763	.	1.143940	0.06774	U	0.784023	T	0.39172	0.1068	N	0.19112	0.55	0.09310	N	1	B	0.29432	0.244	B	0.24006	0.05	T	0.18871	-1.0323	10	0.06494	T	0.89	.	5.9233	0.19094	0.0:0.5163:0.3653:0.1184	.	1052	Q9NR99	MXRA5_HUMAN	N	1052	ENSP00000217939:D1052N	ENSP00000217939:D1052N	D	-	1	0	MXRA5	3250572	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	0.455000	0.21843	0.390000	0.25115	0.522000	0.50473	GAC		0.458	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		6	33	0	0	0	1	0	6	33				
COMMD6	170622	broad.mit.edu	37	13	76104276	76104276	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr13:76104276A>G	ENST00000377615.3	-	4	345	c.181T>C	c.(181-183)Ttt>Ctt	p.F61L	COMMD6_ENST00000460675.1_5'UTR|COMMD6_ENST00000355801.4_Missense_Mutation_p.F61L|COMMD6_ENST00000377619.5_Missense_Mutation_p.F76L|COMMD6_ENST00000406936.3_Missense_Mutation_p.F61L			Q7Z4G1	COMD6_HUMAN	COMM domain containing 6	61	COMM. {ECO:0000255|PROSITE- ProRule:PRU00602}.				negative regulation of NF-kappaB transcription factor activity (GO:0032088)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	NF-kappaB binding (GO:0051059)			breast(1)|lung(1)|urinary_tract(1)	3		Breast(118;0.0979)|Prostate(6;0.122)		GBM - Glioblastoma multiforme(99;0.0104)		GTCATTTCAAAGCACTTGGTC	0.378																																						ENST00000377615.3																			0				breast(1)|lung(1)|urinary_tract(1)	3						c.(181-183)Ttt>Ctt		COMM domain containing 6							151.0	135.0	140.0					13																	76104276		2203	4300	6503	SO:0001583	missense	170622					cytoplasm|nucleus	protein binding	g.chr13:76104276A>G	AY542161	CCDS9451.1, CCDS9452.1	13q22	2004-02-18			ENSG00000188243	ENSG00000188243			24015	protein-coding gene	gene with protein product		612377				15799966	Standard	NM_203497		Approved	Acrg	uc001vjn.1	Q7Z4G1	OTTHUMG00000017089	ENST00000377615.3:c.181T>C	13.37:g.76104276A>G	ENSP00000366841:p.Phe61Leu					COMMD6_ENST00000377619.5_Missense_Mutation_p.F76L|COMMD6_ENST00000460675.1_5'UTR|COMMD6_ENST00000355801.4_Missense_Mutation_p.F61L|COMMD6_ENST00000406936.3_Missense_Mutation_p.F61L	p.F61L			Q7Z4G1	COMD6_HUMAN		GBM - Glioblastoma multiforme(99;0.0104)	4	345	-		Breast(118;0.0979)|Prostate(6;0.122)	61			COMM.		A6NF28|B7ZLN0|Q5TBK4	Missense_Mutation	SNP	ENST00000377615.3	37	c.181T>C	CCDS9451.1	.	.	.	.	.	.	.	.	.	.	A	14.62	2.590628	0.46214	.	.	ENSG00000188243	ENST00000406936;ENST00000377615;ENST00000377619;ENST00000355801	T;T;T;T	0.10192	2.9;2.9;2.9;2.9	5.23	4.02	0.46733	COMM domain (1);	0.050243	0.85682	D	0.000000	T	0.08802	0.0218	.	.	.	0.54753	D	0.999987	B;P	0.34724	0.247;0.465	B;B	0.34590	0.186;0.179	T	0.30966	-0.9960	9	0.23891	T	0.37	.	11.0338	0.47789	0.8562:0.0:0.0:0.1438	.	61;61	Q7Z4G1;Q7Z4G1-2	COMD6_HUMAN;.	L	61;61;76;61	ENSP00000385660:F61L;ENSP00000366841:F61L;ENSP00000366845:F76L;ENSP00000348054:F61L	ENSP00000348054:F61L	F	-	1	0	COMMD6	75002277	1.000000	0.71417	0.989000	0.46669	0.996000	0.88848	5.687000	0.68219	0.897000	0.36392	0.533000	0.62120	TTT		0.378	COMMD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045288.4	XM_085023		4	77	0	0	0	1	0	4	77				
CYP2C19	1557	broad.mit.edu	37	10	96580307	96580307	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr10:96580307G>A	ENST00000371321.3	+	6	956	c.874G>A	c.(874-876)Gct>Act	p.A292T	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	292					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)	p.A292P(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Acenocoumarol(DB01418)|Acetylsalicylic acid(DB00945)|Adinazolam(DB00546)|Almotriptan(DB00918)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Benzatropine(DB00245)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bortezomib(DB00188)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carisoprodol(DB00395)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clevidipine(DB04920)|Clobazam(DB00349)|Clomipramine(DB01242)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enfuvirtide(DB00109)|Enzalutamide(DB08899)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estradiol(DB00783)|Ethanol(DB00898)|Ethotoin(DB00754)|Etoricoxib(DB01628)|Etravirine(DB06414)|Famotidine(DB00927)|Felbamate(DB00949)|Fluconazole(DB00196)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Gliclazide(DB01120)|Glucosamine(DB01296)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Hexobarbital(DB01355)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Indomethacin(DB00328)|Isoniazid(DB00951)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumiracoxib(DB01283)|MACITENTAN(DB08932)|Melatonin(DB01065)|Memantine(DB01043)|Meprobamate(DB00371)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methsuximide(DB05246)|Methylphenobarbital(DB00849)|Metoprolol(DB00264)|Miconazole(DB01110)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nicotine(DB00184)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Norethindrone(DB00717)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ospemifene(DB04938)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Pantoprazole(DB00213)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phensuximide(DB00832)|Phenytoin(DB00252)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Prasugrel(DB06209)|Praziquantel(DB01058)|Prednisone(DB00635)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propofol(DB00818)|Propranolol(DB00571)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Telmisartan(DB00966)|Temazepam(DB00231)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Timolol(DB00373)|Tioconazole(DB01007)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tolbutamide(DB01124)|Tolterodine(DB01036)|Topiramate(DB00273)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zolpidem(DB00425)|Zonisamide(DB00909)	AATCACTGCAGCTGACTTACT	0.418																																						ENST00000371321.3																			1	Substitution - Missense(1)	p.A292P(1)	large_intestine(1)	central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43						c.(874-876)Gct>Act		cytochrome P450, family 2, subfamily C, polypeptide 19	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)						167.0	152.0	157.0					10																	96580307		2203	4300	6503	SO:0001583	missense	1557				exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96580307G>A	M61854	CCDS7436.1	10q24	2007-12-14	2003-01-14		ENSG00000165841	ENSG00000165841		"""Cytochrome P450s"""	2621	protein-coding gene	gene with protein product		124020	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19"""	CYP2C		2009263, 8530044	Standard	NM_000769		Approved	P450IIC19, CPCJ	uc010qnz.2	P33261	OTTHUMG00000018799	ENST00000371321.3:c.874G>A	10.37:g.96580307G>A	ENSP00000360372:p.Ala292Thr					CYP2C19_ENST00000464755.1_3'UTR	p.A292T	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	6	956	+		Colorectal(252;0.09)	292					P33259|Q8WZB1|Q8WZB2|Q9UCD4	Missense_Mutation	SNP	ENST00000371321.3	37	c.874G>A	CCDS7436.1	.	.	.	.	.	.	.	.	.	.	G	4.025	0.002041	0.07819	.	.	ENSG00000165841	ENST00000371321	T	0.12147	2.71	3.95	-7.89	0.01174	.	0.479979	0.17652	U	0.166646	T	0.04634	0.0126	N	0.16166	0.38	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.19943	-1.0290	10	0.22109	T	0.4	.	5.0567	0.14537	0.2652:0.0892:0.5167:0.1289	.	292	P33261	CP2CJ_HUMAN	T	292	ENSP00000360372:A292T	ENSP00000360372:A292T	A	+	1	0	CYP2C19	96570297	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-7.207000	0.00041	-2.175000	0.00771	-0.755000	0.03482	GCT		0.418	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049490.1	NM_000769		5	80	0	0	0	1	0	5	80				
ZSCAN25	221785	broad.mit.edu	37	7	99217321	99217321	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr7:99217321G>C	ENST00000394152.2	+	4	419	c.92G>C	c.(91-93)aGa>aCa	p.R31T	ZSCAN25_ENST00000334715.3_Missense_Mutation_p.R31T|ZSCAN25_ENST00000262941.6_Missense_Mutation_p.R31T|ZSCAN25_ENST00000466948.1_3'UTR	NM_145115.2	NP_660090.2	Q6NSZ9	ZSC25_HUMAN	zinc finger and SCAN domain containing 25	31					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CCATGGGGCAGAGGAAGGGAG	0.557																																						ENST00000394152.2																			0											c.(91-93)aGa>aCa		zinc finger and SCAN domain containing 25							146.0	164.0	158.0					7																	99217321		2203	4300	6503	SO:0001583	missense	221785							g.chr7:99217321G>C	AK057030	CCDS5671.2	7q22.1	2013-01-09	2013-01-09	2013-01-09	ENSG00000197037	ENSG00000197037		"""-"", ""Zinc fingers, C2H2-type"""	21961	protein-coding gene	gene with protein product			"""zinc finger protein 498"""	ZNF498		11179890	Standard	XM_005250194		Approved	FLJ32468	uc003url.1	Q6NSZ9	OTTHUMG00000074055	ENST00000394152.2:c.92G>C	7.37:g.99217321G>C	ENSP00000377708:p.Arg31Thr					ZSCAN25_ENST00000466948.1_3'UTR|ZSCAN25_ENST00000334715.3_Missense_Mutation_p.R31T|ZSCAN25_ENST00000262941.6_Missense_Mutation_p.R31T	p.R31T	NM_145115.2	NP_660090.2					4	419	+								A4D290|D6W5T5|Q14C82|Q14C99|Q5EBM9|Q6DJZ0|Q6N032|Q6ZML3	Missense_Mutation	SNP	ENST00000394152.2	37	c.92G>C	CCDS5671.2	.	.	.	.	.	.	.	.	.	.	G	5.389	0.257007	0.10239	.	.	ENSG00000197037	ENST00000394152;ENST00000431485;ENST00000334715;ENST00000262941	T;T;T;T	0.08896	3.08;3.05;3.08;3.04	4.4	1.43	0.22495	.	0.283865	0.26038	N	0.026717	T	0.04452	0.0122	N	0.19112	0.55	0.24533	N	0.994106	B;B	0.30281	0.275;0.079	B;B	0.27076	0.076;0.035	T	0.33650	-0.9860	10	0.62326	D	0.03	-19.0159	3.6552	0.08218	0.2468:0.2061:0.5471:0.0	.	31;31	Q6NSZ9-2;Q6NSZ9	.;ZN498_HUMAN	T	31	ENSP00000377708:R31T;ENSP00000413144:R31T;ENSP00000334800:R31T;ENSP00000262941:R31T	ENSP00000262941:R31T	R	+	2	0	ZNF498	99055257	0.978000	0.34361	0.141000	0.22245	0.000000	0.00434	1.305000	0.33493	0.305000	0.22832	-0.916000	0.02749	AGA		0.557	ZSCAN25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157203.4	NM_145115		7	167	0	0	0	1	0	7	167				
MRPS28	28957	broad.mit.edu	37	8	80831351	80831351	+	Missense_Mutation	SNP	C	C	T	rs200994359		TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr8:80831351C>T	ENST00000276585.4	-	3	450	c.428G>A	c.(427-429)cGg>cAg	p.R143Q	MRPS28_ENST00000521605.1_Silent_p.A82A|MRPS28_ENST00000521434.1_Missense_Mutation_p.R81Q	NM_014018.2	NP_054737.1	Q9Y2Q9	RT28_HUMAN	mitochondrial ribosomal protein S28	143						mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(2)|skin(1)	5	Lung NSC(7;1.86e-06)|all_lung(9;6.91e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00769)|Epithelial(68;0.0208)|all cancers(69;0.0805)			ATCTAATAGCCGCAACCGGAC	0.368													C|||	1	0.000199681	0.0	0.0014	5008	,	,		13362	0.0		0.0	False		,,,				2504	0.0					ENST00000276585.4																			0				endometrium(1)|large_intestine(1)|lung(2)|skin(1)	5						c.(427-429)cGg>cAg		mitochondrial ribosomal protein S28							106.0	107.0	107.0					8																	80831351		2203	4300	6503	SO:0001583	missense	28957					mitochondrial small ribosomal subunit		g.chr8:80831351C>T	AB061209	CCDS6226.1	8q21.1-q21.2	2012-09-13			ENSG00000147586	ENSG00000147586		"""Mitochondrial ribosomal proteins / small subunits"""	14513	protein-coding gene	gene with protein product		611990				11279123, 11042152	Standard	NM_014018		Approved	MRP-S28, HSPC007, MRPS35	uc003ybp.3	Q9Y2Q9	OTTHUMG00000164642	ENST00000276585.4:c.428G>A	8.37:g.80831351C>T	ENSP00000276585:p.Arg143Gln					MRPS28_ENST00000521434.1_Missense_Mutation_p.R81Q|MRPS28_ENST00000521605.1_Silent_p.A82A	p.R143Q	NM_014018.2	NP_054737.1	Q9Y2Q9	RT28_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.00769)|Epithelial(68;0.0208)|all cancers(69;0.0805)		3	450	-	Lung NSC(7;1.86e-06)|all_lung(9;6.91e-06)		143					B2RDZ7|Q96Q21	Missense_Mutation	SNP	ENST00000276585.4	37	c.428G>A	CCDS6226.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	25.4	4.631920	0.87660	.	.	ENSG00000147586	ENST00000276585;ENST00000521434;ENST00000519120;ENST00000520946	T;T;T;T	0.60040	0.22;0.22;0.22;0.22	5.78	5.78	0.91487	RNA-binding domain, S1 (1);	0.137366	0.46758	D	0.000273	T	0.77405	0.4125	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.78924	-0.2012	10	0.87932	D	0	.	18.7813	0.91933	0.0:1.0:0.0:0.0	.	143	Q9Y2Q9	RT28_HUMAN	Q	143;81;61;81	ENSP00000276585:R143Q;ENSP00000428880:R81Q;ENSP00000428744:R61Q;ENSP00000430401:R81Q	ENSP00000276585:R143Q	R	-	2	0	MRPS28	80993906	0.988000	0.35896	0.911000	0.35937	0.587000	0.36485	2.796000	0.47869	2.719000	0.93026	0.650000	0.86243	CGG		0.368	MRPS28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379526.1	NM_014018		18	57	0	0	0	1	0	18	57				
NCF2	4688	broad.mit.edu	37	1	183532621	183532621	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr1:183532621G>A	ENST00000367535.3	-	12	1377	c.1126C>T	c.(1126-1128)Cgg>Tgg	p.R376W	NCF2_ENST00000413720.1_Missense_Mutation_p.R331W|NCF2_ENST00000418089.1_Missense_Mutation_p.R295W|NCF2_ENST00000367536.1_Missense_Mutation_p.R376W|NCF2_ENST00000469280.1_5'UTR	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	376	OPR.				aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cellular response to hormone stimulus (GO:0032870)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron apoptotic process (GO:0043525)|respiratory burst (GO:0045730)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hyperoxia (GO:0055093)|response to laminar fluid shear stress (GO:0034616)|response to lipopolysaccharide (GO:0032496)|response to progesterone (GO:0032570)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|NADPH oxidase complex (GO:0043020)|nucleolus (GO:0005730)|phagolysosome (GO:0032010)	electron carrier activity (GO:0009055)|protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30					Dextromethorphan(DB00514)	ACCATGTCCCGGACCTGGCTG	0.567																																						ENST00000413720.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						c.(991-993)Cgg>Tgg		neutrophil cytosolic factor 2							113.0	114.0	113.0					1																	183532621		2203	4300	6503	SO:0001583	missense	4688				cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding	g.chr1:183532621G>A	BC001606	CCDS1356.1, CCDS53446.1, CCDS53447.1	1q25	2014-09-17	2008-07-31		ENSG00000116701	ENSG00000116701		"""Tetratricopeptide (TTC) repeat domain containing"""	7661	protein-coding gene	gene with protein product	"""NADPH oxidase activator 2"", ""chronic granulomatous disease, autosomal 2"""	608515	"""neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2)"""				Standard	NM_000433		Approved	p67phox, NOXA2	uc001gqk.4	P19878	OTTHUMG00000035329	ENST00000367535.3:c.1126C>T	1.37:g.183532621G>A	ENSP00000356505:p.Arg376Trp					NCF2_ENST00000469280.1_5'UTR|NCF2_ENST00000367536.1_Missense_Mutation_p.R376W|NCF2_ENST00000418089.1_Missense_Mutation_p.R295W|NCF2_ENST00000367535.3_Missense_Mutation_p.R376W	p.R331W	NM_001190794.1	NP_001177723.1	P19878	NCF2_HUMAN			11	1265	-			376					B2R6Q1|B4DKQ7|B4DQA7|E9PHJ2|E9PHX3|Q2PP06|Q8NFC7|Q9BV51	Missense_Mutation	SNP	ENST00000367535.3	37	c.991C>T	CCDS1356.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.175984	0.38413	.	.	ENSG00000116701	ENST00000367536;ENST00000392014;ENST00000413720;ENST00000418089;ENST00000367535;ENST00000420553;ENST00000419402	T;T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71;1.71	5.47	3.26	0.37387	Phox/Bem1p (2);	0.448192	0.23563	N	0.046831	T	0.20618	0.0496	L	0.44542	1.39	0.09310	N	1	B;B;B	0.18310	0.009;0.027;0.002	B;B;B	0.14578	0.008;0.011;0.007	T	0.13522	-1.0506	10	0.37606	T	0.19	0.9419	9.8752	0.41200	0.2379:0.0:0.7621:0.0	.	295;331;376	E9PHJ2;E9PHX3;P19878	.;.;NCF2_HUMAN	W	376;448;331;295;376;27;115	ENSP00000356506:R376W;ENSP00000399294:R331W;ENSP00000407217:R295W;ENSP00000356505:R376W;ENSP00000397228:R27W;ENSP00000406198:R115W	ENSP00000356505:R376W	R	-	1	2	NCF2	181799244	0.144000	0.22641	0.060000	0.19600	0.964000	0.63967	0.551000	0.23361	1.321000	0.45227	0.650000	0.86243	CGG		0.567	NCF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085483.1	NM_000433		4	89	0	0	0	1	0	4	89				
ITGAX	3687	broad.mit.edu	37	16	31373161	31373161	+	Silent	SNP	G	G	A			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr16:31373161G>A	ENST00000268296.4	+	10	1138	c.1017G>A	c.(1015-1017)acG>acA	p.T339T	ITGAX_ENST00000562522.1_Silent_p.T339T	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	339	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)	p.T339T(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CCCCAGGTACGGAGACCACAA	0.577																																						ENST00000268296.4																			2	Substitution - coding silent(2)	p.T339T(2)	ovary(1)|large_intestine(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						c.(1015-1017)acG>acA		integrin, alpha X (complement component 3 receptor 4 subunit)							134.0	114.0	121.0					16																	31373161		2197	4300	6497	SO:0001819	synonymous_variant	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31373161G>A	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.1017G>A	16.37:g.31373161G>A						ITGAX_ENST00000562522.1_Silent_p.T339T	p.T339T	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN			10	1138	+			339			VWFA.		Q8IVA6	Silent	SNP	ENST00000268296.4	37	c.1017G>A	CCDS10711.1																																																																																				0.577	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		4	68	0	0	0	1	0	4	68				
NEDD4	4734	broad.mit.edu	37	15	56126282	56126282	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr15:56126282T>C	ENST00000508342.1	-	22	3940	c.3641A>G	c.(3640-3642)aAa>aGa	p.K1214R	NEDD4_ENST00000435532.3_Missense_Mutation_p.K795R|NEDD4_ENST00000338963.2_Missense_Mutation_p.K1142R|NEDD4_ENST00000506154.1_Missense_Mutation_p.K1198R	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	1214	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		GTAGCCATTTTTATACTTTGT	0.308																																						ENST00000508342.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(3640-3642)aAa>aGa		neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase							162.0	146.0	152.0					15																	56126282		2193	4292	6485	SO:0001583	missense	4734				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity	g.chr15:56126282T>C	D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"""receptor-potentiating factor 1"""	602278	"""neural precursor cell expressed, developmentally down-regulated 4"""			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.3641A>G	15.37:g.56126282T>C	ENSP00000424827:p.Lys1214Arg					NEDD4_ENST00000435532.3_Missense_Mutation_p.K795R|NEDD4_ENST00000338963.2_Missense_Mutation_p.K1142R|NEDD4_ENST00000506154.1_Missense_Mutation_p.K1198R	p.K1214R			P46934	NEDD4_HUMAN		all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)	22	3940	-			1214			HECT.		A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Missense_Mutation	SNP	ENST00000508342.1	37	c.3641A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.32|13.32	2.201431|2.201431	0.38905|0.38905	.|.	.|.	ENSG00000069869|ENSG00000069869	ENST00000508871|ENST00000508342;ENST00000435532;ENST00000338963;ENST00000506154	T|T;T;T;T	0.57273|0.58652	0.41|0.32;0.32;0.32;0.32	5.54|5.54	5.54|5.54	0.83059|0.83059	.|HECT (4);	0.043563|0.043563	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.59797|0.59797	0.2220|0.2220	N|N	0.20685|0.20685	0.6|0.6	0.80722|0.80722	D|D	1|1	.|D;B;P;B	.|0.76494	.|0.999;0.374;0.486;0.262	.|D;B;B;B	.|0.77004	.|0.989;0.181;0.39;0.152	T|T	0.55042|0.55042	-0.8202|-0.8202	8|10	0.87932|0.12766	D|T	0|0.61	.|.	14.864|14.864	0.70401|0.70401	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1198;795;1214;1142	.|P46934-2;P46934-4;P46934;P46934-3	.|.;.;NEDD4_HUMAN;.	E|R	805|1214;795;1142;1198	ENSP00000422455:K805E|ENSP00000424827:K1214R;ENSP00000410613:K795R;ENSP00000345530:K1142R;ENSP00000422705:K1198R	ENSP00000422455:K805E|ENSP00000345530:K1142R	K|K	-|-	1|2	0|0	NEDD4|NEDD4	53913574|53913574	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.987000|0.987000	0.75469|0.75469	8.036000|8.036000	0.88901|0.88901	2.094000|2.094000	0.63399|0.63399	0.528000|0.528000	0.53228|0.53228	AAA|AAA		0.308	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400		13	59	0	0	0	1	0	13	59				
SLC24A1	9187	broad.mit.edu	37	15	65916488	65916488	+	Missense_Mutation	SNP	C	C	T	rs371550495		TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr15:65916488C>T	ENST00000261892.6	+	2	357	c.70C>T	c.(70-72)Cgc>Tgc	p.R24C	SLC24A1_ENST00000339868.6_Missense_Mutation_p.R24C|SLC24A1_ENST00000544319.2_Missense_Mutation_p.R24C|SLC24A1_ENST00000537259.1_Missense_Mutation_p.R24C|SLC24A1_ENST00000546330.1_Missense_Mutation_p.R24C|SLC24A1_ENST00000399033.4_Missense_Mutation_p.R24C	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	24					calcium ion transport (GO:0006816)|ion transport (GO:0006811)|phototransduction, visible light (GO:0007603)|response to light intensity (GO:0009642)|rhodopsin mediated signaling pathway (GO:0016056)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						TCATTGGAGTCGCCTCCTCTT	0.527																																						ENST00000261892.6																			0				breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(70-72)Cgc>Tgc		solute carrier family 24 (sodium/potassium/calcium exchanger), member 1		C	CYS/ARG	0,3838		0,0,1919	92.0	91.0	91.0		70	4.1	1.0	15		91	1,8277		0,1,4138	no	missense	SLC24A1	NM_004727.2	180	0,1,6057	TT,TC,CC		0.0121,0.0,0.0083	probably-damaging	24/1100	65916488	1,12115	1919	4139	6058	SO:0001583	missense	9187				response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity	g.chr15:65916488C>T	AF062922	CCDS45284.1, CCDS73742.1, CCDS73743.1, CCDS73744.1	15q22.31	2014-01-28			ENSG00000074621	ENSG00000074621		"""Solute carriers"""	10975	protein-coding gene	gene with protein product		603617				9856482	Standard	NM_004727		Approved	NCKX1, NCKX, RODX, KIAA0702, HsT17412, CSNB1D	uc010ujf.2	O60721	OTTHUMG00000167960	ENST00000261892.6:c.70C>T	15.37:g.65916488C>T	ENSP00000261892:p.Arg24Cys					SLC24A1_ENST00000399033.4_Missense_Mutation_p.R24C|SLC24A1_ENST00000537259.1_Missense_Mutation_p.R24C|SLC24A1_ENST00000546330.1_Missense_Mutation_p.R24C|SLC24A1_ENST00000339868.6_Missense_Mutation_p.R24C|SLC24A1_ENST00000544319.2_Missense_Mutation_p.R24C	p.R24C	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN			2	357	+			24					O43485|O75184|Q17RM9	Missense_Mutation	SNP	ENST00000261892.6	37	c.70C>T	CCDS45284.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.102434	0.76983	0.0	1.21E-4	ENSG00000074621	ENST00000537259;ENST00000261892;ENST00000339868;ENST00000544319;ENST00000399033;ENST00000546330	T;D;D;D;D;D	0.83075	-1.35;-1.61;-1.56;-1.68;-1.62;-1.56	5.1	4.14	0.48551	.	0.592892	0.14959	N	0.288457	D	0.87649	0.6230	L	0.49126	1.545	0.37970	D	0.933253	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;0.999;0.998;0.996	D	0.88106	0.2822	10	0.87932	D	0	.	11.1027	0.48184	0.2764:0.7236:0.0:0.0	.	24;24;24;24;24	O60721-2;Q17RM9;O60721;F5H127;B4E1W0	.;.;NCKX1_HUMAN;.;.	C	24	ENSP00000439693:R24C;ENSP00000261892:R24C;ENSP00000341837:R24C;ENSP00000445163:R24C;ENSP00000381991:R24C;ENSP00000439190:R24C	ENSP00000261892:R24C	R	+	1	0	SLC24A1	63703541	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	1.994000	0.40757	2.648000	0.89879	0.655000	0.94253	CGC		0.527	SLC24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397304.1	NM_004727		11	43	0	0	0	1	0	11	43				
EVI5	7813	broad.mit.edu	37	1	92979231	92979231	+	Silent	SNP	C	C	T	rs200686753		TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr1:92979231C>T	ENST00000370331.1	-	18	2424	c.2415G>A	c.(2413-2415)tcG>tcA	p.S805S	EVI5_ENST00000543509.1_Silent_p.S816S|EVI5_ENST00000540033.1_Silent_p.S805S	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	805	Interaction with AURKB and INCENP.|Targeting to the centrosomes.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|retrograde transport, endosome to Golgi (GO:0042147)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		TGGTTGAATACGACTCTCTTC	0.443																																						ENST00000370331.1																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38						c.(2413-2415)tcG>tcA		ecotropic viral integration site 5							154.0	155.0	155.0					1																	92979231		2203	4300	6503	SO:0001819	synonymous_variant	7813				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity	g.chr1:92979231C>T	AF008915	CCDS30774.1	1p22	2013-07-09			ENSG00000067208	ENSG00000067208			3501	protein-coding gene	gene with protein product	"""neuroblastoma stage 4S gene"""	602942				9618176	Standard	XM_005271180		Approved	NB4S	uc001dox.3	O60447	OTTHUMG00000010895	ENST00000370331.1:c.2415G>A	1.37:g.92979231C>T						EVI5_ENST00000543509.1_Silent_p.S816S|EVI5_ENST00000540033.1_Silent_p.S805S	p.S805S	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)	18	2424	-		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)	805			Interaction with AURKB and INCENP.|Targeting to the centrosomes.		A6NKX8|B9A6J0|Q9H1Y9	Silent	SNP	ENST00000370331.1	37	c.2415G>A	CCDS30774.1																																																																																				0.443	EVI5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030047.1	NM_005665		6	113	0	0	0	1	0	6	113				
REC8	9985	broad.mit.edu	37	14	24642195	24642195	+	Silent	SNP	C	C	T			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr14:24642195C>T	ENST00000311457.3	+	4	812	c.213C>T	c.(211-213)gcC>gcT	p.A71A	REC8_ENST00000559919.1_Silent_p.A71A			O95072	REC8_HUMAN	REC8 meiotic recombination protein	71					double-strand break repair via homologous recombination (GO:0000724)|fertilization (GO:0009566)|linear element assembly (GO:0030999)|male meiosis I (GO:0007141)|meiotic nuclear division (GO:0007126)|oocyte maturation (GO:0001556)|reciprocal meiotic recombination (GO:0007131)|seminiferous tubule development (GO:0072520)|sister chromatid cohesion (GO:0007062)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)	condensed nuclear chromosome kinetochore (GO:0000778)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear meiotic cohesin complex (GO:0034991)|nucleus (GO:0005634)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		ATCTCTCAGCCCAACTTCAGA	0.602																																					NSCLC(139;1764 2537 12868 49041)	ENST00000311457.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						c.(211-213)gcC>gcT		REC8 meiotic recombination protein							83.0	91.0	89.0					14																	24642195		1973	4145	6118	SO:0001819	synonymous_variant	9985				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm		g.chr14:24642195C>T	AF006264	CCDS41932.1	14q11.2-q12	2013-08-06	2013-08-06	2007-04-03		ENSG00000100918			16879	protein-coding gene	gene with protein product		608193	"""REC8-like 1 (yeast)"", ""REC8 homolog (yeast)"""	REC8L1		10207075, 15935783, 12759374	Standard	NM_005132		Approved	Rec8p, kleisin-alpha	uc001wms.3	O95072		ENST00000311457.3:c.213C>T	14.37:g.24642195C>T						REC8_ENST00000559919.1_Silent_p.A71A	p.A71A			O95072	REC8_HUMAN		GBM - Glioblastoma multiforme(265;0.00839)	4	812	+			71					A8K576|D3DS62|Q658V5|Q6IA92|Q8WUV8|Q9BTF2|Q9NVQ9	Silent	SNP	ENST00000311457.3	37	c.213C>T	CCDS41932.1																																																																																				0.602	REC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415889.3	NM_005132		6	36	0	0	0	1	0	6	36				
C11orf42	160298	broad.mit.edu	37	11	6231080	6231080	+	Splice_Site	SNP	G	G	A			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr11:6231080G>A	ENST00000316375.2	+	2	123	c.73G>A	c.(73-75)Gtc>Atc	p.V25I	FAM160A2_ENST00000529360.1_5'Flank	NM_173525.2	NP_775796.2	Q8N5U0	CK042_HUMAN	chromosome 11 open reading frame 42	25										endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCACCTGCAGGTCATCGAGGA	0.507																																						ENST00000316375.2																			0				endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1)	15						c.e2-1		chromosome 11 open reading frame 42							160.0	134.0	143.0					11																	6231080		2201	4296	6497	SO:0001630	splice_region_variant	160298							g.chr11:6231080G>A	BC031612	CCDS7759.1	11p15.4	2012-08-09			ENSG00000180878	ENSG00000180878			28541	protein-coding gene	gene with protein product						12477932	Standard	NM_173525		Approved	MGC34805	uc001mcj.3	Q8N5U0	OTTHUMG00000133377	ENST00000316375.2:c.73-1G>A	11.37:g.6231080G>A							p.V25_splice	NM_173525.2	NP_775796.2	Q8N5U0	CK042_HUMAN		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	123	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	25						Splice_Site	SNP	ENST00000316375.2	37	c.72_splice	CCDS7759.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.245567	0.59103	.	.	ENSG00000180878	ENST00000316375	T	0.60299	0.2	5.1	5.1	0.69264	.	0.000000	0.47455	D	0.000227	T	0.61565	0.2357	N	0.24115	0.695	0.35074	D	0.762793	D	0.61697	0.99	D	0.73380	0.98	T	0.66488	-0.5911	9	.	.	.	-12.088	13.8814	0.63684	0.0:0.0:1.0:0.0	.	25	Q8N5U0	CK042_HUMAN	I	25	ENSP00000321021:V25I	.	V	+	1	0	C11orf42	6187656	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.841000	0.62824	2.659000	0.90383	0.585000	0.79938	GTC		0.507	C11orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257227.2	NM_173525	Missense_Mutation	5	68	0	0	0	1	0	5	68				
KPNA1	3836	broad.mit.edu	37	3	122180094	122180094	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr3:122180094G>A	ENST00000344337.6	-	5	585	c.409C>T	c.(409-411)Cga>Tga	p.R137*	KPNA1_ENST00000466923.1_5'Flank	NM_002264.3	NP_002255.3	P52294	IMA5_HUMAN	karyopherin alpha 1 (importin alpha 5)	137					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|regulation of DNA recombination (GO:0000018)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		TTCTCTTTTCGTTTGAGGAAC	0.333																																					Melanoma(12;340 801 11196 19797)	ENST00000344337.6																			0				NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21						c.(409-411)Cga>Tga		karyopherin alpha 1 (importin alpha 5)							71.0	70.0	71.0					3																	122180094		2203	4300	6503	SO:0001587	stop_gained	3836				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr3:122180094G>A	S75295	CCDS3013.1	3q21	2013-02-14			ENSG00000114030	ENSG00000114030		"""Importins"", ""Armadillo repeat containing"""	6394	protein-coding gene	gene with protein product		600686				8052633	Standard	NM_002264		Approved	SRP1, RCH2, NPI-1, IPOA5	uc003efe.2	P52294	OTTHUMG00000159487	ENST00000344337.6:c.409C>T	3.37:g.122180094G>A	ENSP00000343701:p.Arg137*						p.R137*	NM_002264.3	NP_002255.3	P52294	IMA1_HUMAN		GBM - Glioblastoma multiforme(114;0.0898)	5	585	-			137					D3DN93|Q6IBQ9|Q9BQ56	Nonsense_Mutation	SNP	ENST00000344337.6	37	c.409C>T	CCDS3013.1	.	.	.	.	.	.	.	.	.	.	G	37	6.437515	0.97568	.	.	ENSG00000114030	ENST00000344337;ENST00000465882;ENST00000482287;ENST00000476916;ENST00000493510	.	.	.	5.2	4.3	0.51218	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.014	14.4618	0.67456	0.0:0.0:0.8519:0.1481	.	.	.	.	X	137	.	ENSP00000343701:R137X	R	-	1	2	KPNA1	123662784	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.623000	0.46435	1.515000	0.48885	0.655000	0.94253	CGA		0.333	KPNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355740.1	NM_002264		22	56	0	0	0	1	0	22	56				
SIPA1L1	26037	broad.mit.edu	37	14	72054926	72054926	+	Missense_Mutation	SNP	A	A	T			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr14:72054926A>T	ENST00000555818.1	+	2	685	c.337A>T	c.(337-339)Agc>Tgc	p.S113C	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.S113C|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.S113C	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	113	Ser-rich.				actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GTCCTCCAAAAGCAGTCCTGT	0.453																																						ENST00000555818.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(337-339)Agc>Tgc		signal-induced proliferation-associated 1 like 1							146.0	152.0	150.0					14																	72054926		2203	4300	6503	SO:0001583	missense	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72054926A>T	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.337A>T	14.37:g.72054926A>T	ENSP00000450832:p.Ser113Cys					SIPA1L1_ENST00000381232.3_Missense_Mutation_p.S113C|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.S113C	p.S113C	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	2	685	+			113			Ser-rich.		J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	c.337A>T	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	A	16.90	3.250860	0.59212	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550	T;T;T	0.78246	-1.16;-1.16;-1.16	5.93	3.3	0.37823	.	0.322816	0.41500	D	0.000862	T	0.80138	0.4568	L	0.36672	1.1	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.997	P;D;P	0.66847	0.808;0.947;0.808	T	0.80473	-0.1367	10	0.66056	D	0.02	-17.9926	10.537	0.45009	0.8454:0.0:0.1546:0.0	.	113;113;113	A6H8W6;O43166-2;O43166	.;.;SI1L1_HUMAN	C	113	ENSP00000370630:S113C;ENSP00000450832:S113C;ENSP00000351352:S113C	ENSP00000351352:S113C	S	+	1	0	SIPA1L1	71124679	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.533000	0.67160	1.074000	0.40909	0.533000	0.62120	AGC		0.453	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		7	84	0	0	0	1	0	7	84				
PARS2	25973	broad.mit.edu	37	1	55224300	55224300	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr1:55224300A>G	ENST00000371279.3	-	2	617	c.535T>C	c.(535-537)Ttc>Ctc	p.F179L		NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase 2, mitochondrial (putative)	179					gene expression (GO:0010467)|prolyl-tRNA aminoacylation (GO:0006433)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|proline-tRNA ligase activity (GO:0004827)			breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	TACAGCAGGAAGGGAAGCTGC	0.512																																						ENST00000371279.3																			0				breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15						c.(535-537)Ttc>Ctc		prolyl-tRNA synthetase 2, mitochondrial (putative)	L-Proline(DB00172)						143.0	143.0	143.0					1																	55224300		2203	4300	6503	SO:0001583	missense	25973				prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity	g.chr1:55224300A>G	AK025585	CCDS597.1	1p32.2	2011-07-01	2007-02-23		ENSG00000162396	ENSG00000162396	6.1.1.15	"""Aminoacyl tRNA synthetases / Class II"""	30563	protein-coding gene	gene with protein product	"""proline tRNA ligase 2, mitochondrial (putative)"""	612036				15779907	Standard	NM_152268		Approved	DKFZp727A071	uc001cxy.3	Q7L3T8	OTTHUMG00000009915	ENST00000371279.3:c.535T>C	1.37:g.55224300A>G	ENSP00000360327:p.Phe179Leu						p.F179L	NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN			2	617	-			179					A8K0W4|Q9H6S5|Q9UFT1	Missense_Mutation	SNP	ENST00000371279.3	37	c.535T>C	CCDS597.1	.	.	.	.	.	.	.	.	.	.	A	1.909	-0.451122	0.04572	.	.	ENSG00000162396	ENST00000371279	T	0.66460	-0.21	5.15	1.65	0.23941	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.343534	0.27946	N	0.017212	T	0.16171	0.0389	N	0.00055	-2.37	0.25650	N	0.986109	B	0.02656	0.0	B	0.01281	0.0	T	0.43376	-0.9395	10	0.02654	T	1	-4.7859	3.4917	0.07639	0.4165:0.0:0.3961:0.1874	.	179	Q7L3T8	SYPM_HUMAN	L	179	ENSP00000360327:F179L	ENSP00000360327:F179L	F	-	1	0	PARS2	54996888	0.354000	0.24912	0.299000	0.25016	0.860000	0.49131	0.833000	0.27504	0.308000	0.22923	-0.371000	0.07208	TTC		0.512	PARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027436.1	NM_152268		4	91	0	0	0	1	0	4	91				
MAP7D3	79649	broad.mit.edu	37	X	135314095	135314095	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chrX:135314095C>A	ENST00000316077.9	-	8	1241	c.1021G>T	c.(1021-1023)Gtg>Ttg	p.V341L	MAP7D3_ENST00000370663.5_Missense_Mutation_p.V323L|MAP7D3_ENST00000495432.1_5'Flank|MAP7D3_ENST00000370661.1_Missense_Mutation_p.V306L	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	341					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					TCCACGCTCACCACAGGGAAT	0.572																																						ENST00000316077.9																			0				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44						c.(1021-1023)Gtg>Ttg		MAP7 domain containing 3							110.0	113.0	112.0					X																	135314095		2185	4251	6436	SO:0001583	missense	79649					cytoplasm|spindle		g.chrX:135314095C>A	AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.1021G>T	X.37:g.135314095C>A	ENSP00000318086:p.Val341Leu					MAP7D3_ENST00000370661.1_Missense_Mutation_p.V306L|MAP7D3_ENST00000370663.5_Missense_Mutation_p.V323L	p.V341L	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN			8	1241	-	Acute lymphoblastic leukemia(192;0.000127)		341					A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Missense_Mutation	SNP	ENST00000316077.9	37	c.1021G>T	CCDS44004.1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.287057	0.23478	.	.	ENSG00000129680	ENST00000370661;ENST00000316077;ENST00000370663;ENST00000370660	T;T;T;T	0.07908	3.15;3.15;3.15;3.15	4.19	3.31	0.37934	.	.	.	.	.	T	0.07908	0.0198	L	0.38175	1.15	0.09310	N	1	B;B;B;B	0.18013	0.025;0.021;0.005;0.004	B;B;B;B	0.23852	0.031;0.049;0.01;0.022	T	0.36311	-0.9753	9	0.24483	T	0.36	-0.2888	9.9478	0.41621	0.0:0.8906:0.0:0.1094	.	323;300;341;306	B4DWD2;Q8IWC1-2;Q8IWC1;Q8IWC1-3	.;.;MA7D3_HUMAN;.	L	306;341;323;300	ENSP00000359695:V306L;ENSP00000318086:V341L;ENSP00000359697:V323L;ENSP00000359694:V300L	ENSP00000318086:V341L	V	-	1	0	MAP7D3	135141761	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.235000	0.09016	0.840000	0.34995	0.600000	0.82982	GTG		0.572	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2			8	35	1	0	0.0477658	1	0.0515121	8	35				
MRGPRX1	259249	broad.mit.edu	37	11	18956163	18956163	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr11:18956163G>A	ENST00000302797.3	-	1	393	c.169C>T	c.(169-171)Cgc>Tgc	p.R57C	RP11-583F24.8_ENST00000528646.1_RNA|MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	57					acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GCGTTCCTGCGCATGCGGCAG	0.557																																						ENST00000302797.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(169-171)Cgc>Tgc		MAS-related GPR, member X1							146.0	141.0	143.0					11																	18956163		2194	4286	6480	SO:0001583	missense	259249				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18956163G>A		CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255		"""GPCR / Class A : Orphans"""	17962	protein-coding gene	gene with protein product		607227				11551509	Standard	NM_147199		Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.169C>T	11.37:g.18956163G>A	ENSP00000305766:p.Arg57Cys					MRGPRX1_ENST00000526914.1_5'UTR	p.R57C	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN			1	393	-			57					Q4V9L2|Q8TDD8|Q8TDD9	Missense_Mutation	SNP	ENST00000302797.3	37	c.169C>T	CCDS7846.1	.	.	.	.	.	.	.	.	.	.	.	9.146	1.015153	0.19355	.	.	ENSG00000170255	ENST00000302797	T	0.10960	2.82	2.43	1.47	0.22746	GPCR, rhodopsin-like superfamily (1);	0.831486	0.10560	N	0.660392	T	0.14743	0.0356	M	0.83118	2.625	0.09310	N	1	B	0.26935	0.164	B	0.24269	0.052	T	0.24083	-1.0170	10	0.51188	T	0.08	.	4.9666	0.14094	0.0:0.2369:0.521:0.2421	.	57	Q96LB2	MRGX1_HUMAN	C	57	ENSP00000305766:R57C	ENSP00000305766:R57C	R	-	1	0	MRGPRX1	18912739	0.000000	0.05858	0.038000	0.18304	0.029000	0.11900	-0.661000	0.05311	0.548000	0.28955	0.491000	0.48974	CGC		0.557	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369913.1	NM_147199		4	150	0	0	0	1	0	4	150				
USP34	9736	broad.mit.edu	37	2	61456734	61456734	+	Missense_Mutation	SNP	C	C	G			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr2:61456734C>G	ENST00000398571.2	-	59	7224	c.7148G>C	c.(7147-7149)aGg>aCg	p.R2383T		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2383					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			AGGTCTCAGCCTCTGAATCAC	0.388																																						ENST00000398571.2																			0				autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138						c.(7147-7149)aGg>aCg		ubiquitin specific peptidase 34							215.0	207.0	210.0					2																	61456734		1933	4145	6078	SO:0001583	missense	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61456734C>G	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.7148G>C	2.37:g.61456734C>G	ENSP00000381577:p.Arg2383Thr						p.R2383T	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		59	7224	-			2383					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.7148G>C	CCDS42686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.52|16.52	3.147399|3.147399	0.57151|0.57151	.|.	.|.	ENSG00000115464|ENSG00000115464	ENST00000411912|ENST00000263989;ENST00000398569;ENST00000398571;ENST00000453734	.|T;T	.|0.65364	.|-0.15;3.77	5.65|5.65	5.65|5.65	0.86999|0.86999	.|Armadillo-type fold (1);	.|0.056520	.|0.85682	.|D	.|0.000000	T|T	0.63827|0.63827	0.2544|0.2544	L|L	0.42245|0.42245	1.32|1.32	0.51482|0.51482	D|D	0.999928|0.999928	.|B	.|0.25351	.|0.124	.|B	.|0.36418	.|0.224	T|T	0.59048|0.59048	-0.7527|-0.7527	5|10	.|0.44086	.|T	.|0.13	.|.	20.156|20.156	0.98114|0.98114	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|2383	.|Q70CQ2	.|UBP34_HUMAN	D|T	142|2231;2231;2383;661	.|ENSP00000381577:R2383T;ENSP00000410559:R661T	.|ENSP00000263989:R2231T	E|R	-|-	3|2	2|0	USP34|USP34	61310238|61310238	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.992000|0.992000	0.81027|0.81027	6.013000|6.013000	0.70776|0.70776	2.843000|2.843000	0.97960|0.97960	0.603000|0.603000	0.83216|0.83216	GAG|AGG		0.388	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			5	141	0	0	0	1	0	5	141				
ZNF563	147837	broad.mit.edu	37	19	12430555	12430555	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr19:12430555C>A	ENST00000293725.5	-	4	489	c.284G>T	c.(283-285)aGc>aTc	p.S95I	ZNF563_ENST00000595977.1_Missense_Mutation_p.S95I	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	95	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AGGACAAATGCTGTTGTTCAC	0.398																																					GBM(39;623 795 5132 29510 31476)	ENST00000293725.5																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(283-285)aGc>aTc		zinc finger protein 563							196.0	182.0	186.0					19																	12430555		2203	4300	6503	SO:0001583	missense	147837				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12430555C>A	BC022523	CCDS12270.1	19p13.2	2013-09-20			ENSG00000188868	ENSG00000188868		"""Zinc fingers, C2H2-type"", ""-"""	30498	protein-coding gene	gene with protein product							Standard	NM_145276		Approved	FLJ34797	uc002mtp.3	Q8TA94	OTTHUMG00000156413	ENST00000293725.5:c.284G>T	19.37:g.12430555C>A	ENSP00000293725:p.Ser95Ile					ZNF563_ENST00000595977.1_Missense_Mutation_p.S95I	p.S95I	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN			4	489	-			95			KRAB.		B2R9E7|Q8NAT7	Missense_Mutation	SNP	ENST00000293725.5	37	c.284G>T	CCDS12270.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.383819	0.25031	.	.	ENSG00000188868	ENST00000293725;ENST00000318168	T	0.14640	2.49	0.715	-0.657	0.11432	Krueppel-associated box (1);	.	.	.	.	T	0.07773	0.0195	N	0.08118	0	0.09310	N	0.999998	D;P	0.56287	0.975;0.725	P;B	0.47430	0.547;0.327	T	0.24621	-1.0155	9	0.49607	T	0.09	.	4.5201	0.11956	0.0:0.62:0.0:0.38	.	95;95	Q8TA94-2;Q8TA94	.;ZN563_HUMAN	I	95	ENSP00000293725:S95I	ENSP00000293725:S95I	S	-	2	0	ZNF563	12291555	0.000000	0.05858	0.019000	0.16419	0.292000	0.27327	-0.134000	0.10436	-0.284000	0.09102	0.305000	0.20034	AGC		0.398	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344114.1	NM_145276		4	129	1	0	0.217242	1	0.22544	4	129				
MARCH1	55016	broad.mit.edu	37	4	164506987	164506987	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr4:164506987G>T	ENST00000503008.1	-	6	1313	c.337C>A	c.(337-339)Cag>Aag	p.Q113K	MARCH1_ENST00000339875.5_Missense_Mutation_p.Q96K|MARCH1_ENST00000274056.7_Missense_Mutation_p.Q113K|MARCH1_ENST00000514618.1_Missense_Mutation_p.Q369K	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	113					antigen processing and presentation of peptide antigen via MHC class II (GO:0002495)|immune response (GO:0006955)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	ligase activity (GO:0016874)|MHC protein binding (GO:0042287)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TTTATCCACTGGTGGAGGCAG	0.537																																						ENST00000503008.1																			0				endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						c.(337-339)Cag>Aag		membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase							106.0	96.0	100.0					4																	164506987		2203	4300	6503	SO:0001583	missense	55016				antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr4:164506987G>T	AK000675	CCDS3806.1, CCDS54814.1	4q32.2	2013-01-09	2012-02-23			ENSG00000145416		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	26077	protein-coding gene	gene with protein product		613331	"""membrane-associated ring finger (C3HC4) 1"""			14722266	Standard	NM_017923		Approved	FLJ20668, MARCH-I, RNF171	uc003iqs.2	Q8TCQ1		ENST00000503008.1:c.337C>A	4.37:g.164506987G>T	ENSP00000427223:p.Gln113Lys					MARCH1_ENST00000339875.5_Missense_Mutation_p.Q96K|MARCH1_ENST00000514618.1_Missense_Mutation_p.Q369K|MARCH1_ENST00000274056.7_Missense_Mutation_p.Q113K	p.Q113K	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN			6	1313	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	113					D3DP29|Q9NWR0	Missense_Mutation	SNP	ENST00000503008.1	37	c.337C>A	CCDS54814.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.167347	0.57476	.	.	ENSG00000145416	ENST00000274056;ENST00000503008;ENST00000514618;ENST00000339875;ENST00000507270	T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06	5.27	4.44	0.53790	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-CH-type (2);	0.173564	0.40385	N	0.001103	T	0.32102	0.0818	N	0.25485	0.75	0.58432	D	0.999992	P;B	0.42123	0.771;0.34	B;B	0.41135	0.348;0.155	T	0.04413	-1.0953	10	0.25106	T	0.35	-26.415	14.1435	0.65334	0.0726:0.0:0.9274:0.0	.	113;96	Q8TCQ1;Q8TCQ1-2	MARH1_HUMAN;.	K	113;113;369;96;113	ENSP00000274056:Q113K;ENSP00000427223:Q113K;ENSP00000421322:Q369K;ENSP00000345676:Q96K;ENSP00000426731:Q113K	ENSP00000274056:Q113K	Q	-	1	0	MARCH1	164726437	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	1.367000	0.46095	0.585000	0.79938	CAG		0.537	MARCH1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364493.2	NM_017923		6	52	1	0	1	1	1	6	52				
LRRN1	57633	broad.mit.edu	37	3	3887996	3887996	+	Silent	SNP	G	G	T			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr3:3887996G>T	ENST00000319331.3	+	2	2432	c.1671G>T	c.(1669-1671)tcG>tcT	p.S557S	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	557	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of membrane (GO:0016021)				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TAAAATGGTCGTCTGCCACCA	0.443																																						ENST00000319331.3																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26						c.(1669-1671)tcG>tcT		leucine rich repeat neuronal 1							202.0	205.0	204.0					3																	3887996		2203	4300	6503	SO:0001819	synonymous_variant	57633					integral to membrane		g.chr3:3887996G>T	AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928		"""Immunoglobulin superfamily / I-set domain containing"""	20980	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 3"""					10819331	Standard	NM_020873		Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.1671G>T	3.37:g.3887996G>T						SUMF1_ENST00000534863.1_Intron	p.S557S	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN		Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)	2	2432	+			557			Fibronectin type-III.		Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Silent	SNP	ENST00000319331.3	37	c.1671G>T	CCDS33685.1																																																																																				0.443	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337704.2	NM_020873		9	191	1	0	1.58986e-06	1	1.86048e-06	9	191				
HIST1H2AE	3012	broad.mit.edu	37	6	26217407	26217407	+	Missense_Mutation	SNP	A	A	C			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr6:26217407A>C	ENST00000303910.2	+	1	243	c.205A>C	c.(205-207)Aac>Cac	p.N69H	HIST1H2BG_ENST00000244601.3_5'Flank	NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	69						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				GCTAGCTGGCAACGCGGCTCG	0.602																																						ENST00000303910.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10						c.(205-207)Aac>Cac		histone cluster 1, H2ae							61.0	61.0	61.0					6																	26217407		2203	4300	6503	SO:0001583	missense	3012				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26217407A>C	M60752	CCDS4595.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000168274	ENSG00000277075		"""Histones / Replication-dependent"""	4724	protein-coding gene	gene with protein product		602786	"""H2A histone family, member A"", ""histone 1, H2ae"""	H2AFA		9119399, 1916825, 12408966	Standard	NM_021052		Approved	H2A/a, H2A.1	uc003nha.1	P04908	OTTHUMG00000014440	ENST00000303910.2:c.205A>C	6.37:g.26217407A>C	ENSP00000303373:p.Asn69His						p.N69H	NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN			1	243	+		all_hematologic(11;0.196)	69					P28001|Q76P63	Missense_Mutation	SNP	ENST00000303910.2	37	c.205A>C	CCDS4595.1	.	.	.	.	.	.	.	.	.	.	.	13.83	2.352765	0.41700	.	.	ENSG00000168274	ENST00000303910	T	0.69926	-0.44	4.07	4.07	0.47477	.	0.000000	0.36740	U	0.002429	D	0.86573	0.5965	H	0.99042	4.41	0.46356	D	0.999004	.	.	.	.	.	.	D	0.91107	0.4919	8	0.87932	D	0	.	12.6507	0.56759	1.0:0.0:0.0:0.0	.	.	.	.	H	69	ENSP00000303373:N69H	ENSP00000303373:N69H	N	+	1	0	HIST1H2AE	26325386	1.000000	0.71417	1.000000	0.80357	0.341000	0.28922	8.908000	0.92640	1.834000	0.53371	0.528000	0.53228	AAC		0.602	HIST1H2AE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040103.1	NM_021052		5	32	0	0	0	1	0	5	32				
OC90	729330	broad.mit.edu	37	8	133053367	133053367	+	Silent	SNP	G	G	A	rs368734460		TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr8:133053367G>A	ENST00000443356.2	-	6	467	c.381C>T	c.(379-381)gcC>gcT	p.A127A	OC90_ENST00000262283.5_Silent_p.A323A|OC90_ENST00000254627.3_Silent_p.A127A|OC90_ENST00000603859.1_Silent_p.A127A			Q02509	OC90_HUMAN	otoconin 90	127	Phospholipase A2-like 1.				lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)	p.A133A(1)|p.A323A(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			CCATCTCAGCGGCCTCCTCAT	0.577																																						ENST00000262283.5																			2	Substitution - coding silent(2)	p.A133A(1)|p.A323A(1)	large_intestine(2)	NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37						c.(967-969)gcC>gcT		otoconin 90		G		0,3930		0,0,1965	108.0	107.0	107.0		381	-11.2	0.0	8		107	1,8323		0,1,4161	no	coding-synonymous	OC90	NM_001080399.2		0,1,6126	AA,AG,GG		0.012,0.0,0.0082		127/478	133053367	1,12253	1965	4162	6127	SO:0001819	synonymous_variant	729330				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	g.chr8:133053367G>A	Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.381C>T	8.37:g.133053367G>A						OC90_ENST00000254627.3_Silent_p.A127A|OC90_ENST00000603859.1_Silent_p.A127A|OC90_ENST00000443356.2_Silent_p.A127A	p.A323A			Q02509	OC90_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)		9	1068	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		127			Phospholipase A2-like 2.		B4DNG8	Silent	SNP	ENST00000443356.2	37	c.969C>T																																																																																					0.577	OC90-201	KNOWN	basic	protein_coding	protein_coding		NM_001080399		14	87	0	0	0	1	0	14	87				
RIMS3	9783	broad.mit.edu	37	1	41098808	41098808	+	Silent	SNP	G	G	A	rs371406864		TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr1:41098808G>A	ENST00000372684.3	-	5	874	c.405C>T	c.(403-405)agC>agT	p.S135S	RIMS3_ENST00000372683.1_Silent_p.S135S	NM_014747.2	NP_055562.2	Q9UJD0	RIMS3_HUMAN	regulating synaptic membrane exocytosis 3	135					calcium ion-dependent exocytosis (GO:0017156)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)			CCAGGAAATCGCTGAACTGGC	0.587																																						ENST00000372684.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(403-405)agC>agT		regulating synaptic membrane exocytosis 3		G		0,4406		0,0,2203	122.0	115.0	117.0		405	-3.0	1.0	1		117	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RIMS3	NM_014747.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		135/309	41098808	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9783				neurotransmitter transport	cell junction|synapse		g.chr1:41098808G>A	BC003103	CCDS30687.1	1p34.2	2013-09-19			ENSG00000117016	ENSG00000117016			21292	protein-coding gene	gene with protein product		611600				12620390, 10748113	Standard	NM_014747		Approved	RIM3, NIM3	uc001cfu.1	Q9UJD0	OTTHUMG00000007453	ENST00000372684.3:c.405C>T	1.37:g.41098808G>A						RIMS3_ENST00000372683.1_Silent_p.S135S	p.S135S	NM_014747.2	NP_055562.2	Q9UJD0	RIMS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)		5	874	-	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	135					D3DPV8|Q92511|X5D7U7	Silent	SNP	ENST00000372684.3	37	c.405C>T	CCDS30687.1																																																																																				0.587	RIMS3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019585.1	NM_014747		7	65	0	0	0	1	0	7	65				
IL12A-AS1	101928376	broad.mit.edu	37	3	159820697	159820698	+	RNA	INS	-	-	A	rs527889186|rs113756526	byFrequency	TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr3:159820697_159820698insA	ENST00000497452.1	-	0	517									IL12A antisense RNA 1																		TTGGAacagtgaaaaaaaaaag	0.277													|||unknown(HR)	612	0.122204	0.261	0.0533	5008	,	,		18975	0.0923		0.0815	False		,,,				2504	0.0562					ENST00000497452.1																			0																																																			0							g.chr3:159820697_159820698insA	AK097161		3q25.33	2013-09-02			ENSG00000244040	ENSG00000244040		"""Long non-coding RNAs"""	49094	non-coding RNA	RNA, long non-coding							Standard	NR_108088		Approved				OTTHUMG00000158951		3.37:g.159820707_159820707dupA														0	517	-									RNA	INS	ENST00000497452.1	37																																																																																						0.277	IL12A-AS1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000352647.1			3	4						3	4	---	---	---	---
LACE1	246269	broad.mit.edu	37	6	108768474	108768474	+	Frame_Shift_Del	DEL	C	C	-			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr6:108768474delC	ENST00000368977.4	+	8	1051	c.865delC	c.(865-867)cctfs	p.P289fs		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	289						mitochondrion (GO:0005739)	ATP binding (GO:0005524)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		AAGGGAACTTCCTGCTGCAGG	0.328																																						ENST00000368977.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15						c.(865-867)ctfs		lactation elevated 1							103.0	106.0	105.0					6																	108768474		2203	4300	6503	SO:0001589	frameshift_variant	246269						ATP binding	g.chr6:108768474delC	AF520418	CCDS5067.1	6q22.1	2006-11-10			ENSG00000135537	ENSG00000135537			16411	protein-coding gene	gene with protein product	"""ATPase family gene 1 homolog (S. cerevisiae)"""					12079282	Standard	XM_005266885		Approved	AFG1	uc003psj.3	Q8WV93	OTTHUMG00000015324	ENST00000368977.4:c.865delC	6.37:g.108768474delC	ENSP00000357973:p.Pro289fs						p.P289fs	NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)	8	1051	+		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)	289					Q8N6A3	Frame_Shift_Del	DEL	ENST00000368977.4	37	c.865delC	CCDS5067.1																																																																																				0.328	LACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041719.4	NM_145315		7	92						7	92	---	---	---	---
HDAC2	3066	broad.mit.edu	37	6	114292110	114292112	+	5'UTR	DEL	CTG	CTG	-			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr6:114292110_114292112delCTG	ENST00000519065.1	-	0	337_339				RP3-399L15.3_ENST00000520891.1_RNA|HDAC2_ENST00000519108.1_5'Flank|RP3-399L15.3_ENST00000520554.1_RNA|HDAC2_ENST00000398283.2_In_Frame_Del_p.S81del|RP3-399L15.3_ENST00000449620.2_RNA|RP3-399L15.3_ENST00000522844.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000521888.1_RNA|HDAC2_ENST00000368632.2_5'UTR|RP3-399L15.3_ENST00000436876.2_RNA			Q92769	HDAC2_HUMAN	histone deacetylase 2						ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|cardiac muscle cell development (GO:0055013)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|dendrite development (GO:0016358)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|hair follicle placode formation (GO:0060789)|hippocampus development (GO:0021766)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|maintenance of chromatin silencing (GO:0006344)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell cycle (GO:0045786)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of neuron projection development (GO:0010977)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of proteolysis (GO:0045862)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein deacetylation (GO:0090311)|regulation of protein kinase B signaling (GO:0051896)|regulation of sarcomere organization (GO:0060297)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|replication fork (GO:0005657)|Sin3 complex (GO:0016580)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|poly(A) RNA binding (GO:0044822)|protein deacetylase activity (GO:0033558)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.S81R(1)		biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Aminophylline(DB01223)|Lovastatin(DB00227)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Valproic Acid(DB00313)|Vorinostat(DB02546)	GCTCCTCCTCctgctgctgctgc	0.685																																						ENST00000398283.2																			1	Substitution - Missense(1)	p.S81R(1)	prostate(1)	biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27						c.(241-246)agg>ag		histone deacetylase 2	Vorinostat(DB02546)																																			SO:0001623	5_prime_UTR_variant	3066				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding	g.chr6:114292110_114292112delCTG	U31814	CCDS43493.1, CCDS43493.2	6q21	2008-08-29			ENSG00000196591	ENSG00000196591			4853	protein-coding gene	gene with protein product		605164				9782097	Standard	NM_001527		Approved	RPD3, YAF1	uc003pwd.2	Q92769	OTTHUMG00000015411	ENST00000519065.1:c.-40CAG>-	6.37:g.114292119_114292121delCTG						RP3-399L15.3_ENST00000519104.1_RNA|HDAC2_ENST00000519065.1_5'UTR|RP3-399L15.3_ENST00000520554.1_RNA|RP3-399L15.3_ENST00000449620.2_RNA|RP3-399L15.3_ENST00000436876.2_RNA|HDAC2_ENST00000368632.2_5'UTR	p.SR81del	NM_001527.3	NP_001518.3	Q92769	HDAC2_HUMAN		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	1	247_249	-		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)	0			Histone deacetylase.		B3KRS5|B4DL58|E1P561|Q5SRI8|Q5SZ86|Q8NEH4	In_Frame_Del	DEL	ENST00000519065.1	37	c.243_245delCAG	CCDS43493.2																																																																																				0.685	HDAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041909.2			2	4						2	4	---	---	---	---
NEURL4	84461	broad.mit.edu	37	17	7227518	7227519	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr17:7227518_7227519delCT	ENST00000399464.2	-	11	1985_1986	c.1970_1971delAG	c.(1969-1971)cagfs	p.Q657fs	NEURL4_ENST00000570460.1_Frame_Shift_Del_p.Q635fs|NEURL4_ENST00000315614.7_Frame_Shift_Del_p.Q657fs	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	657	NHR 3. {ECO:0000255|PROSITE- ProRule:PRU00400}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CAGCAGGGCCCTGAGTCATCCC	0.653											OREG0024134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000399464.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1969-1971)cfs		neuralized E3 ubiquitin protein ligase 4																																				SO:0001589	frameshift_variant	84461							g.chr17:7227518_7227519delCT		CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"""neuralized homolog 4 (Drosophila)"""			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.1970_1971delAG	17.37:g.7227518_7227519delCT	ENSP00000382390:p.Gln657fs		OREG0024134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	640	NEURL4_ENST00000570460.1_Frame_Shift_Del_p.Q635fs|NEURL4_ENST00000315614.7_Frame_Shift_Del_p.Q657fs	p.Q657fs	NM_032442.2	NP_115818.2					11	1985_1986	-								Q6GPI8|Q96IU9|Q9H0B0	Frame_Shift_Del	DEL	ENST00000399464.2	37	c.1970_1971delAG	CCDS42251.1																																																																																				0.653	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442		7	57						7	57	---	---	---	---
UPF3AP2	147150	broad.mit.edu	37	17	20279212	20279213	+	RNA	DEL	TC	TC	-	rs545213851	byFrequency	TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr17:20279212_20279213delTC	ENST00000578315.1	-	0	263									UPF3A pseudogene 2																		CTCTTCCCAGTCTCTCCATGGC	0.614														61	0.0121805	0.0446	0.0029	5008	,	,		20391	0.0		0.0	False		,,,				2504	0.0					ENST00000578315.1																			0																																																			0							g.chr17:20279212_20279213delTC			17p11.2	2013-09-13	2013-09-13			ENSG00000214832			30567	pseudogene	pseudogene			"""UPF3 regulator of nonsense transcripts homolog A (yeast) pseudogene 2"""			11997339	Standard	NG_001546		Approved						17.37:g.20279216_20279217delTC														0	263	-									RNA	DEL	ENST00000578315.1	37																																																																																						0.614	UPF3AP2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000443627.1	NG_001546		5	5						5	5	---	---	---	---
