#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
DVL1	1855	broad.mit.edu	37	1	1275475	1275475	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr1:1275475C>T	ENST00000378888.5	-	8	1136	c.852G>A	c.(850-852)atG>atA	p.M284I	DVL1_ENST00000378891.5_Missense_Mutation_p.M284I			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	284	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|collateral sprouting (GO:0048668)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|cytoplasmic microtubule organization (GO:0031122)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|neural tube development (GO:0021915)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prepulse inhibition (GO:0060134)|protein localization to microtubule (GO:0035372)|protein localization to nucleus (GO:0034504)|receptor clustering (GO:0043113)|regulation of neurotransmitter levels (GO:0001505)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|social behavior (GO:0035176)|synapse organization (GO:0050808)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	axon (GO:0030424)|cell cortex (GO:0005938)|clathrin-coated vesicle (GO:0030136)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|growth cone (GO:0030426)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	enzyme binding (GO:0019899)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|Rac GTPase binding (GO:0048365)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CCCCGCCCTTCATGATGGAGC	0.627																																						uc001aer.3																			0					0						c.(850-852)ATG>ATA		dishevelled 1							47.0	50.0	49.0					1																	1275475		2202	4299	6501	SO:0001583	missense	1855				canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity	g.chr1:1275475C>T	AF006011	CCDS22.1	1p36	2013-05-22	2013-05-22		ENSG00000107404	ENSG00000107404		"""Dishevelled homologs"""	3084	protein-coding gene	gene with protein product		601365	"""dishevelled 1 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 1 (Drosophila)"""			8817329	Standard	NM_004421		Approved		uc001aer.4	O14640	OTTHUMG00000003069	ENST00000378888.5:c.852G>A	1.37:g.1275475C>T	ENSP00000368166:p.Met284Ile					DVL1_uc002quu.2_Missense_Mutation_p.M1I|DVL1_uc009vka.2_5'UTR|DVL1_uc001aeu.1_5'UTR	p.M284I	NM_004421	NP_004412	O14640	DVL1_HUMAN		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	8	899	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	284			PDZ.		Q5TA33|Q5TA35	Missense_Mutation	SNP	ENST00000378888.5	37	c.852G>A		.	.	.	.	.	.	.	.	.	.	C	14.18	2.458139	0.43634	.	.	ENSG00000107404	ENST00000378891;ENST00000378888	T;T	0.28255	1.62;1.62	3.43	3.43	0.39272	PDZ/DHR/GLGF (4);	0.104836	0.64402	D	0.000001	T	0.28632	0.0709	L	0.27053	0.805	0.80722	D	1	P;P	0.49862	0.929;0.777	P;B	0.46585	0.521;0.424	T	0.24941	-1.0146	10	0.87932	D	0	.	15.4663	0.75403	0.0:1.0:0.0:0.0	.	284;284	O14640;O14640-2	DVL1_HUMAN;.	I	284	ENSP00000368169:M284I;ENSP00000368166:M284I	ENSP00000368166:M284I	M	-	3	0	DVL1	1265338	1.000000	0.71417	1.000000	0.80357	0.232000	0.25224	7.483000	0.81158	1.933000	0.56026	0.456000	0.33151	ATG		0.627	DVL1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000008490.1	NM_004421	
AGL	178	broad.mit.edu	37	1	100382185	100382185	+	Missense_Mutation	SNP	G	G	A	rs546855663	byFrequency	TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr1:100382185G>A	ENST00000294724.4	+	33	4857	c.4379G>A	c.(4378-4380)cGt>cAt	p.R1460H	AGL_ENST00000361302.3_Missense_Mutation_p.R1444H|AGL_ENST00000370165.3_Missense_Mutation_p.R1460H|AGL_ENST00000370163.3_Missense_Mutation_p.R1460H|AGL_ENST00000361915.3_Missense_Mutation_p.R1460H|AGL_ENST00000361522.4_Missense_Mutation_p.R1443H|AGL_ENST00000370161.2_Missense_Mutation_p.R1444H	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1460					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TATTTTCTTCGTGCAAAATTA	0.308													G|||	2	0.000399361	0.0	0.0	5008	,	,		15431	0.0		0.0	False		,,,				2504	0.002					uc001dsi.1																			0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(4378-4380)CGT>CAT		amylo-1,6-glucosidase,							67.0	71.0	70.0					1																	100382185		2202	4299	6501	SO:0001583	missense	178				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	g.chr1:100382185G>A	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.4379G>A	1.37:g.100382185G>A	ENSP00000294724:p.Arg1460His					AGL_uc001dsj.1_Missense_Mutation_p.R1460H|AGL_uc001dsk.1_Missense_Mutation_p.R1460H|AGL_uc001dsl.1_Missense_Mutation_p.R1460H|AGL_uc001dsm.1_Missense_Mutation_p.R1444H|AGL_uc001dsn.1_Missense_Mutation_p.R1443H	p.R1460H	NM_000642	NP_000633	P35573	GDE_HUMAN		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	33	4779	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	1460			4-alpha-glucanotransferase.		A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	37	c.4379G>A	CCDS759.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.805304	0.90623	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	T;T;T;T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5	5.89	4.98	0.66077	Six-hairpin glycosidase-like (1);	0.000000	0.85682	D	0.000000	D	0.85531	0.5718	M	0.94101	3.495	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.997;0.998	D	0.89864	0.4018	10	0.87932	D	0	.	15.0055	0.71510	0.068:0.0:0.932:0.0	.	1443;1444;1460	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	H	1460;1460;1460;1460;1444;1444;1443	ENSP00000355106:R1460H;ENSP00000359184:R1460H;ENSP00000359182:R1460H;ENSP00000294724:R1460H;ENSP00000354971:R1444H;ENSP00000359180:R1444H;ENSP00000354635:R1443H	ENSP00000294724:R1460H	R	+	2	0	AGL	100154773	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.658000	0.83755	1.499000	0.48617	0.655000	0.94253	CGT		0.308	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028	
DENND2C	163259	broad.mit.edu	37	1	115143493	115143493	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr1:115143493G>A	ENST00000393274.1	-	14	2529	c.1904C>T	c.(1903-1905)gCt>gTt	p.A635V	DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393276.3_Missense_Mutation_p.A578V|DENND2C_ENST00000393277.1_Missense_Mutation_p.A635V	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	635	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCGTCCAGGAGCTGGGAAAGG	0.448																																						uc001efd.1																			0				skin(3)	3						c.(1903-1905)GCT>GTT		DENN/MADD domain containing 2C							128.0	124.0	125.0					1																	115143493		2203	4300	6503	SO:0001583	missense	163259							g.chr1:115143493G>A		CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"""DENN/MADD domain containing"""	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.1904C>T	1.37:g.115143493G>A	ENSP00000376955:p.Ala635Val					DENND2C_uc001eez.2_RNA|DENND2C_uc001efc.1_Missense_Mutation_p.A578V	p.A635V	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	14	2606	-	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	635			DENN.		B1AL26|Q5TCX6|Q6P3R3	Missense_Mutation	SNP	ENST00000393274.1	37	c.1904C>T	CCDS58018.1	.	.	.	.	.	.	.	.	.	.	G	35	5.559025	0.96514	.	.	ENSG00000175984	ENST00000393276;ENST00000393274;ENST00000369540;ENST00000393277	T;T;T	0.12465	2.68;2.68;2.68	5.18	5.18	0.71444	DENN (3);	0.000000	0.49916	U	0.000121	T	0.31389	0.0795	M	0.72576	2.205	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.986	T	0.08743	-1.0707	10	0.87932	D	0	.	18.7701	0.91888	0.0:0.0:1.0:0.0	.	635;578	Q68D51;Q68D51-3	DEN2C_HUMAN;.	V	578;635;635;635	ENSP00000376957:A578V;ENSP00000376955:A635V;ENSP00000376958:A635V	ENSP00000358553:A635V	A	-	2	0	DENND2C	114945016	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.431000	0.82371	0.650000	0.86243	GCT		0.448	DENND2C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000314822.1	NM_198459	
SPAG17	200162	broad.mit.edu	37	1	118598400	118598400	+	Missense_Mutation	SNP	T	T	A			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr1:118598400T>A	ENST00000336338.5	-	19	2743	c.2678A>T	c.(2677-2679)aAa>aTa	p.K893I		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	893						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		AGAAGTAAGTTTGGCATTAGC	0.323																																						uc001ehk.2																			0				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6						c.(2677-2679)AAA>ATA		sperm associated antigen 17							100.0	102.0	101.0					1																	118598400		2202	4298	6500	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118598400T>A		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.2678A>T	1.37:g.118598400T>A	ENSP00000337804:p.Lys893Ile						p.K893I	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	19	2746	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	893					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.2678A>T	CCDS899.1	.	.	.	.	.	.	.	.	.	.	T	11.54	1.668537	0.29604	.	.	ENSG00000155761	ENST00000336338	T	0.21191	2.02	5.35	0.39	0.16275	.	1.109960	0.06793	N	0.787295	T	0.06962	0.0177	L	0.47716	1.5	0.09310	N	1	B	0.12630	0.006	B	0.17722	0.019	T	0.43669	-0.9377	10	0.62326	D	0.03	.	5.5896	0.17293	0.1207:0.2207:0.0:0.6586	.	893	Q6Q759	SPG17_HUMAN	I	893	ENSP00000337804:K893I	ENSP00000337804:K893I	K	-	2	0	SPAG17	118399923	0.980000	0.34600	0.004000	0.12327	0.001000	0.01503	1.166000	0.31834	-0.346000	0.08312	-1.463000	0.01021	AAA		0.323	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996	
FLG	2312	broad.mit.edu	37	1	152276824	152276824	+	Missense_Mutation	SNP	G	G	A	rs143278829		TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr1:152276824G>A	ENST00000368799.1	-	3	10573	c.10538C>T	c.(10537-10539)gCg>gTg	p.A3513V	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3513	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGAGCTGTCCGCCTGAGTGGA	0.562									Ichthyosis				G|||	1	0.000199681	0.0	0.0	5008	,	,		20254	0.0		0.001	False		,,,				2504	0.0					uc001ezu.1																			0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(10537-10539)GCG>GTG		filaggrin							228.0	222.0	224.0					1																	152276824		2203	4298	6501	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152276824G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10538C>T	1.37:g.152276824G>A	ENSP00000357789:p.Ala3513Val						p.A3513V	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	10574	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3513			Ser-rich.|Filaggrin 21.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.10538C>T	CCDS30860.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	10.44	1.352152	0.24512	.	.	ENSG00000143631	ENST00000368799	T	0.01745	4.66	2.21	1.26	0.21427	.	.	.	.	.	T	0.03305	0.0096	M	0.80616	2.505	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.38243	-0.9670	9	0.39692	T	0.17	.	6.566	0.22513	0.0:0.4624:0.5376:0.0	.	3513	P20930	FILA_HUMAN	V	3513	ENSP00000357789:A3513V	ENSP00000357789:A3513V	A	-	2	0	FLG	150543448	0.038000	0.19896	0.000000	0.03702	0.003000	0.03518	0.711000	0.25764	0.476000	0.27440	0.398000	0.26397	GCG		0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
FLG	2312	broad.mit.edu	37	1	152286487	152286487	+	Missense_Mutation	SNP	C	C	T	rs200504242		TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr1:152286487C>T	ENST00000368799.1	-	3	910	c.875G>A	c.(874-876)cGt>cAt	p.R292H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	292	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGATCCCCTACGCTTTCTTGT	0.502									Ichthyosis				-|||	1	0.000199681	0.0	0.0	5008	,	,		20854	0.001		0.0	False		,,,				2504	0.0					uc001ezu.1																			0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(874-876)CGT>CAT		filaggrin		C	HIS/ARG	0,4406		0,0,2203	256.0	263.0	261.0		875	-3.5	0.0	1		261	1,8599		0,1,4299	yes	missense	FLG	NM_002016.1	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	292/4062	152286487	1,13005	2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152286487C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.875G>A	1.37:g.152286487C>T	ENSP00000357789:p.Arg292His					uc001ezv.2_RNA	p.R292H	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	911	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		292			Filaggrin 1.|Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.875G>A	CCDS30860.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	-	4.817	0.151887	0.09185	0.0	1.16E-4	ENSG00000143631	ENST00000368799	T	0.01335	5.0	2.56	-3.55	0.04639	.	.	.	.	.	T	0.00271	0.0008	N	0.08118	0	0.09310	N	1	P	0.39737	0.685	B	0.27887	0.084	T	0.49513	-0.8932	9	0.56958	D	0.05	-0.0331	8.024	0.30425	0.0:0.5946:0.0:0.4054	.	292	P20930	FILA_HUMAN	H	292	ENSP00000357789:R292H	ENSP00000357789:R292H	R	-	2	0	FLG	150553111	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.849000	0.04322	-0.663000	0.05331	-0.498000	0.04607	CGT		0.502	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
CRNN	49860	broad.mit.edu	37	1	152382849	152382849	+	Missense_Mutation	SNP	C	C	A			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr1:152382849C>A	ENST00000271835.3	-	3	771	c.709G>T	c.(709-711)Ggt>Tgt	p.G237C	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	237	Gln-rich.				response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGGTGGCACCTGCCTGGGTC	0.582																																						uc001ezx.2																			0				ovary(2)|skin(1)	3						c.(709-711)GGT>TGT		cornulin							252.0	255.0	254.0					1																	152382849		2203	4300	6503	SO:0001583	missense	49860				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	g.chr1:152382849C>A	AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"""EF-hand domain containing"""	1230	protein-coding gene	gene with protein product		611312	"""chromosome 1 open reading frame 10"""	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.709G>T	1.37:g.152382849C>A	ENSP00000271835:p.Gly237Cys						p.G237C	NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	783	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		237			Gln-rich.		B2RE60|Q8N613	Missense_Mutation	SNP	ENST00000271835.3	37	c.709G>T	CCDS1010.1	.	.	.	.	.	.	.	.	.	.	C	15.56	2.870141	0.51588	.	.	ENSG00000143536	ENST00000271835	T	0.06218	3.33	4.93	3.07	0.35406	.	0.125783	0.36444	N	0.002587	T	0.04588	0.0125	L	0.34521	1.04	0.09310	N	1	D	0.76494	0.999	P	0.60173	0.87	T	0.27673	-1.0067	10	0.52906	T	0.07	.	7.5832	0.27976	0.0:0.8069:0.0:0.1931	.	237	Q9UBG3	CRNN_HUMAN	C	237	ENSP00000271835:G237C	ENSP00000271835:G237C	G	-	1	0	CRNN	150649473	0.001000	0.12720	0.007000	0.13788	0.047000	0.14425	0.397000	0.20883	0.670000	0.31165	0.585000	0.79938	GGT		0.582	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190	
FCGR3A	2214	broad.mit.edu	37	1	161576598	161576598	+	Intron	SNP	C	C	T	rs558124272	byFrequency	TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr1:161576598C>T	ENST00000540048.1	-	2	94				FCGR2B_ENST00000367962.4_Intron|FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000403078.3_Intron|RP11-25K21.6_ENST00000537821.2_RNA			P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)						Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AAGGTGCTGCCGATCATCAAT	0.657																																						uc010pkp.1																			0					0						c.(517-519)CCG>CTG		RecName: Full=Putative heat shock 70 kDa protein 7; AltName: Full=Heat shock 70 kDa protein B;																																				SO:0001627	intron_variant	3311							g.chr1:161576598C>T	BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3619	protein-coding gene	gene with protein product		146740	"""Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"""	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000540048.1:c.61+23559G>A	1.37:g.161576598C>T							p.P173L	NR_024151						1	750	+								A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Missense_Mutation	SNP	ENST00000540048.1	37	c.518C>T																																																																																					0.657	FCGR3A-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000569	
CACNA1E	777	broad.mit.edu	37	1	181549749	181549749	+	Missense_Mutation	SNP	A	A	T			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr1:181549749A>T	ENST00000367573.2	+	6	788	c.788A>T	c.(787-789)gAc>gTc	p.D263V	CACNA1E_ENST00000367570.1_Missense_Mutation_p.D263V|CACNA1E_ENST00000360108.3_Missense_Mutation_p.D263V|CACNA1E_ENST00000358338.5_Missense_Mutation_p.D214V|CACNA1E_ENST00000357570.5_Missense_Mutation_p.D214V|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000526775.1_Missense_Mutation_p.D263V	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	263					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GAAGGATTTGACCCCCCTCAC	0.507																																						uc001gow.2																			0				ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(787-789)GAC>GTC		calcium channel, voltage-dependent, R type,							189.0	183.0	185.0					1																	181549749		1977	4155	6132	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181549749A>T	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.788A>T	1.37:g.181549749A>T	ENSP00000356545:p.Asp263Val					CACNA1E_uc009wxr.2_Missense_Mutation_p.D170V|CACNA1E_uc009wxs.2_Missense_Mutation_p.D170V	p.D263V	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			6	953	+			263			I.|Extracellular (Potential).		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.788A>T	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	A	19.25	3.791464	0.70452	.	.	ENSG00000198216	ENST00000524607;ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.97575	-4.44;-4.05;-4.04;-4.05;-4.04;-4.05;-4.06	4.97	4.97	0.65823	.	0.155567	0.56097	D	0.000034	D	0.97576	0.9206	L	0.59912	1.85	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	D	0.96888	0.9651	10	0.26408	T	0.33	.	14.3141	0.66437	1.0:0.0:0.0:0.0	.	263;263	Q15878-2;Q15878-3	.;.	V	263;263;263;214;214;263;263	ENSP00000432038:D263V;ENSP00000356542:D263V;ENSP00000434814:D263V;ENSP00000350183:D214V;ENSP00000351101:D214V;ENSP00000353222:D263V;ENSP00000356545:D263V	ENSP00000350183:D214V	D	+	2	0	CACNA1E	179816372	1.000000	0.71417	0.996000	0.52242	0.978000	0.69477	7.737000	0.84957	1.876000	0.54355	0.459000	0.35465	GAC		0.507	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721	
FAM107B	83641	broad.mit.edu	37	10	14564008	14564008	+	Missense_Mutation	SNP	G	G	C			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr10:14564008G>C	ENST00000378470.1	-	3	425	c.139C>G	c.(139-141)Cct>Gct	p.P47A	FAM107B_ENST00000378465.3_Missense_Mutation_p.P47A|FAM107B_ENST00000468747.1_Missense_Mutation_p.P47A|FAM107B_ENST00000496330.1_Missense_Mutation_p.P47A|FAM107B_ENST00000378462.1_Missense_Mutation_p.P47A|FAM107B_ENST00000378458.2_Missense_Mutation_p.P47A|FAM107B_ENST00000181796.2_Missense_Mutation_p.P222A|FAM107B_ENST00000479731.1_Missense_Mutation_p.P47A|FAM107B_ENST00000478076.1_Missense_Mutation_p.P47A|FAM107B_ENST00000378467.4_Missense_Mutation_p.P47A	NM_001282695.1|NM_001282696.1|NM_001282697.1|NM_001282698.1|NM_001282700.1|NM_001282701.1|NM_001282702.1|NM_001282703.1	NP_001269624.1|NP_001269625.1|NP_001269626.1|NP_001269627.1|NP_001269629.1|NP_001269630.1|NP_001269631.1|NP_001269632.1	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	47					sensory perception of sound (GO:0007605)					breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTGTTCTGAGGAGCAAGACCC	0.358																																						uc001imx.1																			0				breast(4)	4						c.(139-141)CCT>GCT		hypothetical protein LOC83641							121.0	113.0	115.0					10																	14564008		2203	4300	6503	SO:0001583	missense	83641							g.chr10:14564008G>C	AK127413	CCDS7102.1, CCDS60486.1	10p14	2006-01-17	2006-01-17	2005-11-20	ENSG00000065809	ENSG00000065809			23726	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 45"""	C10orf45		11230166	Standard	XM_005252616		Approved	FLJ45505, MGC11034	uc001ina.1	Q9H098	OTTHUMG00000017709	ENST00000378470.1:c.139C>G	10.37:g.14564008G>C	ENSP00000367731:p.Pro47Ala					FAM107B_uc001ina.1_Missense_Mutation_p.P222A|FAM107B_uc010qbu.1_RNA|FAM107B_uc009xjg.1_Missense_Mutation_p.P47A|FAM107B_uc001imy.1_Missense_Mutation_p.P47A|FAM107B_uc001imz.1_Missense_Mutation_p.P47A	p.P47A	NM_031453	NP_113641	Q9H098	F107B_HUMAN			3	384	-			47					A8K1P4|D3DRT2|Q5T9K7|Q5T9K8|Q6ZSI4	Missense_Mutation	SNP	ENST00000378470.1	37	c.139C>G		.	.	.	.	.	.	.	.	.	.	G	18.66	3.672159	0.67928	.	.	ENSG00000065809	ENST00000378470;ENST00000181796;ENST00000468747;ENST00000378467;ENST00000378465;ENST00000378458;ENST00000478076;ENST00000378462;ENST00000378461;ENST00000496330;ENST00000479731;ENST00000468492;ENST00000452706;ENST00000489100;ENST00000494865;ENST00000475786;ENST00000488576;ENST00000442012;ENST00000482277;ENST00000472095	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.62563	0.2438	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	1.0;0.986	D;P	0.87578	0.998;0.849	T	0.53711	-0.8400	10	0.31617	T	0.26	-8.3	19.4161	0.94700	0.0:0.0:1.0:0.0	.	222;47	Q9H098-2;Q9H098	.;F107B_HUMAN	A	47;222;47;47;47;47;47;47;47;47;47;47;47;47;47;47;47;47;47;47	ENSP00000367731:P47A;ENSP00000181796:P222A;ENSP00000418120:P47A;ENSP00000367728:P47A;ENSP00000367726:P47A;ENSP00000367719:P47A;ENSP00000417782:P47A;ENSP00000367723:P47A;ENSP00000418330:P47A;ENSP00000419603:P47A;ENSP00000420444:P47A;ENSP00000413676:P47A;ENSP00000420249:P47A;ENSP00000418395:P47A;ENSP00000417242:P47A;ENSP00000420314:P47A;ENSP00000397949:P47A;ENSP00000417845:P47A;ENSP00000419064:P47A	ENSP00000181796:P222A	P	-	1	0	FAM107B	14604014	1.000000	0.71417	0.999000	0.59377	0.928000	0.56348	9.869000	0.99810	2.837000	0.97791	0.655000	0.94253	CCT		0.358	FAM107B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046899.1	NM_031453	
PARD3	56288	broad.mit.edu	37	10	34663908	34663908	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr10:34663908C>T	ENST00000374789.3	-	11	1887	c.1562G>A	c.(1561-1563)gGc>gAc	p.G521D	PARD3_ENST00000374788.3_Missense_Mutation_p.G521D|PARD3_ENST00000544292.1_Missense_Mutation_p.G251D|PARD3_ENST00000346874.4_Missense_Mutation_p.G521D|PARD3_ENST00000374773.1_Missense_Mutation_p.G521D|PARD3_ENST00000545693.1_Missense_Mutation_p.G521D|PARD3_ENST00000374768.1_5'Flank|PARD3_ENST00000545260.1_Missense_Mutation_p.G477D|PARD3_ENST00000374794.3_Missense_Mutation_p.G477D|PARD3_ENST00000340077.5_Missense_Mutation_p.G521D|PARD3_ENST00000374790.3_Missense_Mutation_p.G477D|PARD3_ENST00000350537.4_Missense_Mutation_p.G521D|PARD3_ENST00000374776.1_Missense_Mutation_p.G521D	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	521	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TTGGGATTTGCCCACTAAATC	0.453																																						uc010qej.1																			0				ovary(1)	1						c.(1561-1563)GGC>GAC		partitioning-defective protein 3 homolog							97.0	96.0	96.0					10																	34663908		2203	4300	6503	SO:0001583	missense	56288				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chr10:34663908C>T	AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.1562G>A	10.37:g.34663908C>T	ENSP00000363921:p.Gly521Asp					PARD3_uc010qek.1_Missense_Mutation_p.G521D|PARD3_uc010qel.1_Missense_Mutation_p.G521D|PARD3_uc010qem.1_Missense_Mutation_p.G521D|PARD3_uc010qen.1_Missense_Mutation_p.G521D|PARD3_uc010qeo.1_Missense_Mutation_p.G521D|PARD3_uc010qep.1_Missense_Mutation_p.G477D|PARD3_uc010qeq.1_Missense_Mutation_p.G477D|PARD3_uc001ixo.1_Missense_Mutation_p.G251D|PARD3_uc001ixp.1_Missense_Mutation_p.G386D|PARD3_uc001ixq.1_Missense_Mutation_p.G521D|PARD3_uc001ixr.1_Missense_Mutation_p.G521D|PARD3_uc001ixt.1_Missense_Mutation_p.G342D|PARD3_uc001ixu.1_Missense_Mutation_p.G477D|PARD3_uc001ixs.1_Missense_Mutation_p.G174D	p.G521D	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN			11	1562	-		Breast(68;0.0707)	521			PDZ 2.		F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	ENST00000374789.3	37	c.1562G>A	CCDS7178.1	.	.	.	.	.	.	.	.	.	.	c	31	5.059486	0.93846	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790;ENST00000374776;ENST00000340077;ENST00000374773;ENST00000544292	T;T;T;T;T;T;T;T;T;T;T;T	0.21031	2.03;2.03;2.03;2.03;2.03;2.03;2.03;2.03;2.03;2.03;2.03;2.03	5.82	5.82	0.92795	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.47691	0.1459	M	0.61703	1.905	0.80722	D	1	D;D;D;D;D;D;D;P;P;D;D;B;P;D;B	0.89917	1.0;0.999;0.998;1.0;0.998;0.994;1.0;0.664;0.664;1.0;0.999;0.314;0.911;0.992;0.1	D;P;D;D;D;D;D;B;P;D;D;B;P;D;B	0.97110	1.0;0.895;0.983;0.99;0.983;0.954;0.99;0.398;0.497;0.994;0.987;0.24;0.874;0.944;0.137	T	0.34625	-0.9821	10	0.66056	D	0.02	.	20.088	0.97803	0.0:1.0:0.0:0.0	.	477;477;521;521;521;521;521;521;477;521;521;521;521;521;251	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0;Q5VWV2;Q6IQ47;Q5VWU8;Q8TEW0-8;Q8TEW0-9;Q8TEW0-10;F5GZI3	.;.;.;.;.;.;.;PARD3_HUMAN;.;.;.;.;.;.;.	D	521;477;521;521;521;477;521;477;521;521;521;251	ENSP00000443147:G521D;ENSP00000440857:G477D;ENSP00000363921:G521D;ENSP00000363920:G521D;ENSP00000340591:G521D;ENSP00000363926:G477D;ENSP00000311986:G521D;ENSP00000363922:G477D;ENSP00000363908:G521D;ENSP00000341844:G521D;ENSP00000363905:G521D;ENSP00000444429:G251D	ENSP00000341844:G521D	G	-	2	0	PARD3	34703914	1.000000	0.71417	0.999000	0.59377	0.941000	0.58515	7.451000	0.80668	2.739000	0.93911	0.655000	0.94253	GGC		0.453	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619	
PTEN	5728	broad.mit.edu	37	10	89720676	89720676	+	Missense_Mutation	SNP	A	A	G			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr10:89720676A>G	ENST00000371953.3	+	8	2184	c.827A>G	c.(826-828)aAt>aGt	p.N276S	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	276	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.W274_F341del(1)|p.N276fs*15(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTTTGGGTAAATACATTCTTC	0.279		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.2		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	D|Mis|N|F|S	phosphatase and tensin homolog gene			"""L, E, M, O"""		harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial		51	Whole gene deletion(37)|Deletion - Frameshift(10)|Deletion - In frame(2)|Unknown(2)	p.R55fs*1(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.D268_F279>VGQNVSLLGKYI(2)|p.N276fs*15(2)|p.G165_*404del(1)|p.G165_K342del(1)|p.W274_F341del(1)	prostate(16)|central_nervous_system(12)|skin(6)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)|endometrium(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	GRCh37	CM090487	PTEN	M		c.(826-828)AAT>AGT		phosphatase and tensin homolog							29.0	31.0	30.0					10																	89720676		2192	4281	6473	SO:0001583	missense	5728	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89720676A>G	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.827A>G	10.37:g.89720676A>G	ENSP00000361021:p.Asn276Ser	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.N276S	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	9	1858	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	276			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.827A>G	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.534394	0.85812	.	.	ENSG00000171862	ENST00000371953	D	0.91740	-2.9	5.13	5.13	0.70059	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.96185	0.8756	M	0.86178	2.8	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.96516	0.9382	9	.	.	.	-7.7972	14.9228	0.70854	1.0:0.0:0.0:0.0	.	276	P60484	PTEN_HUMAN	S	276	ENSP00000361021:N276S	.	N	+	2	0	PTEN	89710656	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.918000	0.92759	1.942000	0.56320	0.482000	0.46254	AAT		0.279	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
DNMBP	23268	broad.mit.edu	37	10	101715528	101715528	+	Missense_Mutation	SNP	G	G	C			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr10:101715528G>C	ENST00000324109.4	-	4	1794	c.1703C>G	c.(1702-1704)aCa>aGa	p.T568R	DNMBP-AS1_ENST00000434409.1_RNA|DNMBP_ENST00000342239.3_Missense_Mutation_p.T568R	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	568					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		ATCTGGCTCTGTGCCGGGCCC	0.498																																						uc001kqj.2																			0				ovary(5)|skin(1)	6						c.(1702-1704)ACA>AGA		dynamin binding protein							62.0	65.0	64.0					10																	101715528		2203	4300	6503	SO:0001583	missense	23268				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr10:101715528G>C	AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.1703C>G	10.37:g.101715528G>C	ENSP00000315659:p.Thr568Arg					NCRNA00093_uc001kqk.1_RNA	p.T568R	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)	4	1795	-		Colorectal(252;0.234)	568					Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	ENST00000324109.4	37	c.1703C>G	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	G	11.15	1.555297	0.27739	.	.	ENSG00000107554	ENST00000342239;ENST00000324109	T;T	0.13089	2.66;2.62	6.04	5.14	0.70334	.	0.547135	0.16637	N	0.205806	T	0.15652	0.0377	L	0.47716	1.5	0.22675	N	0.998864	B	0.13594	0.008	B	0.06405	0.002	T	0.09907	-1.0653	10	0.42905	T	0.14	-0.4684	15.3659	0.74523	0.0665:0.0:0.9335:0.0	.	568	Q6XZF7	DNMBP_HUMAN	R	568	ENSP00000344914:T568R;ENSP00000315659:T568R	ENSP00000315659:T568R	T	-	2	0	DNMBP	101705518	0.926000	0.31397	0.236000	0.24074	0.605000	0.37080	2.763000	0.47605	1.573000	0.49748	-0.258000	0.10820	ACA		0.498	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221	
NELL1	4745	broad.mit.edu	37	11	21135236	21135236	+	Missense_Mutation	SNP	C	C	T	rs371025282		TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr11:21135236C>T	ENST00000357134.5	+	13	1554	c.1402C>T	c.(1402-1404)Cgt>Tgt	p.R468C	NELL1_ENST00000298925.5_Missense_Mutation_p.R496C|NELL1_ENST00000532434.1_Missense_Mutation_p.R468C|NELL1_ENST00000325319.5_Missense_Mutation_p.R411C	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	468	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AGGATACATTCGTGTGGATGA	0.403																																						uc001mqe.2																			0				ovary(2)|large_intestine(1)	3						c.(1402-1404)CGT>TGT		nel-like 1 isoform 1 precursor		C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	339.0	284.0	303.0		1402,1402	5.3	1.0	11		303	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	NELL1	NM_006157.3,NM_201551.1	180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	468/811,468/764	21135236	1,13005	2203	4300	6503	SO:0001583	missense	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:21135236C>T	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.1402C>T	11.37:g.21135236C>T	ENSP00000349654:p.Arg468Cys					NELL1_uc001mqf.2_Missense_Mutation_p.R468C|NELL1_uc009yid.2_Missense_Mutation_p.R496C|NELL1_uc010rdo.1_Missense_Mutation_p.R411C|NELL1_uc010rdp.1_Missense_Mutation_p.R228C	p.R468C	NM_006157	NP_006148	Q92832	NELL1_HUMAN			13	1555	+			468			EGF-like 2; calcium-binding (Potential).		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	ENST00000357134.5	37	c.1402C>T	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.595215	0.66219	0.0	1.16E-4	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	D;D;D;D	0.92249	-3.0;-3.0;-3.0;-3.0	5.29	5.29	0.74685	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000001	D	0.95310	0.8478	M	0.62723	1.935	0.80722	D	1	D;D;P;D	0.89917	1.0;1.0;0.562;0.999	D;D;B;D	0.87578	0.996;0.998;0.148;0.99	D	0.95552	0.8621	10	0.66056	D	0.02	-22.1431	17.1145	0.86685	0.0:1.0:0.0:0.0	.	411;496;468;468	F5H6I3;B3KXR2;Q92832-2;Q92832	.;.;.;NELL1_HUMAN	C	496;468;411;468	ENSP00000298925:R496C;ENSP00000349654:R468C;ENSP00000317837:R411C;ENSP00000437170:R468C	ENSP00000298925:R496C	R	+	1	0	NELL1	21091812	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.520000	0.60524	2.470000	0.83445	0.591000	0.81541	CGT		0.403	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157	
OR5M8	219484	broad.mit.edu	37	11	56258155	56258155	+	Missense_Mutation	SNP	T	T	A			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr11:56258155T>A	ENST00000327216.2	-	1	716	c.692A>T	c.(691-693)gAg>gTg	p.E231V		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	231						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					TTGCCTGCCCTCTGTAGAGCG	0.413																																						uc001nix.1																			0				central_nervous_system(1)	1						c.(691-693)GAG>GTG		olfactory receptor, family 5, subfamily M,							38.0	41.0	40.0					11																	56258155		2201	4296	6497	SO:0001583	missense	219484				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56258155T>A	AB065744	CCDS31533.1	11q11	2012-08-09			ENSG00000181371	ENSG00000181371		"""GPCR / Class A : Olfactory receptors"""	14846	protein-coding gene	gene with protein product							Standard	NM_001005282		Approved		uc001nix.1	Q8NGP6	OTTHUMG00000166877	ENST00000327216.2:c.692A>T	11.37:g.56258155T>A	ENSP00000323354:p.Glu231Val						p.E231V	NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN			1	692	-	Esophageal squamous(21;0.00352)		231			Cytoplasmic (Potential).		B2RNM5|Q6IEW3|Q96RB8	Missense_Mutation	SNP	ENST00000327216.2	37	c.692A>T	CCDS31533.1	.	.	.	.	.	.	.	.	.	.	T	9.245	1.039259	0.19669	.	.	ENSG00000181371	ENST00000327216	T	0.00220	8.52	4.35	3.17	0.36434	GPCR, rhodopsin-like superfamily (1);	0.173042	0.27411	N	0.019494	T	0.00328	0.0010	M	0.73598	2.24	0.09310	N	1	P	0.45474	0.859	P	0.52823	0.71	T	0.37314	-0.9711	10	0.72032	D	0.01	-12.0754	5.2142	0.15334	0.1795:0.0:0.1864:0.6341	.	231	Q8NGP6	OR5M8_HUMAN	V	231	ENSP00000323354:E231V	ENSP00000323354:E231V	E	-	2	0	OR5M8	56014731	0.000000	0.05858	0.031000	0.17742	0.011000	0.07611	0.058000	0.14301	0.614000	0.30107	0.514000	0.50259	GAG		0.413	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391641.1	NM_001005282	
MS4A4A	51338	broad.mit.edu	37	11	60075609	60075609	+	Silent	SNP	C	C	T			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr11:60075609C>T	ENST00000337908.4	+	7	768	c.678C>T	c.(676-678)caC>caT	p.H226H	MS4A4A_ENST00000355131.3_Silent_p.H207H|MS4A4A_ENST00000532114.1_Silent_p.H173H|MS4A4A_ENST00000395016.3_Silent_p.H207H	NM_148975.2	NP_683876.1	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	226						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						CACATTCTCACATGGCAGAAA	0.458																																						uc001noz.2																			0					0						c.(676-678)CAC>CAT		membrane-spanning 4-domains, subfamily A, member							219.0	187.0	198.0					11																	60075609		2203	4300	6503	SO:0001819	synonymous_variant	51338					integral to membrane	receptor activity	g.chr11:60075609C>T	AB013102	CCDS7982.1, CCDS58135.1	11q12	2012-02-28	2012-02-28		ENSG00000110079	ENSG00000110079			13371	protein-coding gene	gene with protein product		606547	"""membrane-spanning 4-domains, subfamily A, member 4"""	MS4A4		11245982, 11401424	Standard	NM_148975		Approved	CD20L1, MS4A7	uc001noz.3	Q96JQ5	OTTHUMG00000154949	ENST00000337908.4:c.678C>T	11.37:g.60075609C>T						MS4A4A_uc001npa.2_Silent_p.H207H|MS4A4A_uc001npb.2_Silent_p.H207H|MS4A4A_uc001npc.2_Silent_p.H154H	p.H226H	NM_148975	NP_683876	Q96JQ5	M4A4A_HUMAN			7	688	+			226			Cytoplasmic (Potential).		Q8TEZ6|Q96PG7|Q9BY18|Q9H3V3|Q9P1S3	Silent	SNP	ENST00000337908.4	37	c.678C>T	CCDS7982.1																																																																																				0.458	MS4A4A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337774.2		
CCDC87	55231	broad.mit.edu	37	11	66359836	66359836	+	Silent	SNP	G	G	A	rs17853294		TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr11:66359836G>A	ENST00000333861.3	-	1	718	c.651C>T	c.(649-651)ttC>ttT	p.F217F	CCS_ENST00000533244.1_5'Flank|CCS_ENST00000310190.4_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	217			F -> L (in dbSNP:rs17853294). {ECO:0000269|PubMed:15489334}.		cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCACTTGGGCGAAGCCAGTGC	0.592																																						uc001oiq.3																			0				ovary(1)|skin(1)	2						c.(649-651)TTC>TTT		coiled-coil domain containing 87							70.0	55.0	60.0					11																	66359836		2200	4295	6495	SO:0001819	synonymous_variant	55231							g.chr11:66359836G>A	BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.651C>T	11.37:g.66359836G>A						CCS_uc001oir.2_5'Flank	p.F217F	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN			1	719	-			217					Q8NE76	Silent	SNP	ENST00000333861.3	37	c.651C>T	CCDS8145.1																																																																																				0.592	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393825.1	NM_018219	
CNTN5	53942	broad.mit.edu	37	11	99827702	99827703	+	Frame_Shift_Ins	INS	-	-	TCCTTAGTCC			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr11:99827702_99827703insTCCTTAGTCC	ENST00000524871.1	+	8	1128_1129	c.838_839insTCCTTAGTCC	c.(838-840)gtcfs	p.-283fs	CNTN5_ENST00000418526.2_Frame_Shift_Ins_p.-209fs|CNTN5_ENST00000279463.3_Frame_Shift_Ins_p.-283fs|CNTN5_ENST00000527185.1_Frame_Shift_Ins_p.-283fs|CNTN5_ENST00000528682.1_Frame_Shift_Ins_p.-283fs	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5						cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GAATGCTAGAGTCCTTAGTCCT	0.416																																						uc001pga.2																			0				skin(3)|ovary(2)|pancreas(2)|breast(1)	8						c.(838-840)GTCfs		contactin 5 isoform long																																				SO:0001589	frameshift_variant	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:99827702_99827703insTCCTTAGTCC	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.839_848dupTCCTTAGTCC	11.37:g.99827703_99827712dupTCCTTAGTCC	ENSP00000435637:p.Pro283fs					CNTN5_uc009ywv.1_Frame_Shift_Ins_p.V280fs|CNTN5_uc001pfz.2_Frame_Shift_Ins_p.V280fs|CNTN5_uc001pgb.2_Frame_Shift_Ins_p.V206fs	p.V280fs	NM_014361	NP_055176	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	8	1177_1178	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	280			Ig-like C2-type 2.		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Frame_Shift_Ins	INS	ENST00000524871.1	37	c.838_839insTCCTTAGTCC	CCDS53696.1																																																																																				0.416	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361	
OPCML	4978	broad.mit.edu	37	11	132527102	132527102	+	Missense_Mutation	SNP	T	T	A			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr11:132527102T>A	ENST00000331898.7	-	2	858	c.280A>T	c.(280-282)Aca>Tca	p.T94S	OPCML_ENST00000541867.1_Missense_Mutation_p.T94S|OPCML_ENST00000524381.1_Missense_Mutation_p.T87S|OPCML_ENST00000374778.4_Missense_Mutation_p.T53S|OPCML_ENST00000529038.1_5'UTR	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	94	Ig-like C2-type 1.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		TGGGTTGGTGTATTGACCAGG	0.532																																						uc001qgs.2																			0				ovary(2)|skin(1)	3						c.(280-282)ACA>TCA		opioid binding protein/cell adhesion							247.0	183.0	205.0					11																	132527102		2201	4297	6498	SO:0001583	missense	4978				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	g.chr11:132527102T>A	BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"""Immunoglobulin superfamily / I-set domain containing"""	8143	protein-coding gene	gene with protein product	"""IgLON family member 1"""	600632	"""opioid-binding protein/cell adhesion molecule-like"""			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.280A>T	11.37:g.132527102T>A	ENSP00000330862:p.Thr94Ser					OPCML_uc001qgu.2_Missense_Mutation_p.T87S|OPCML_uc010sck.1_Missense_Mutation_p.T94S|OPCML_uc001qgt.2_Missense_Mutation_p.T94S|OPCML_uc010scl.1_Missense_Mutation_p.T53S	p.T94S	NM_002545	NP_002536	Q14982	OPCM_HUMAN		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)	2	330	-	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)	94			Ig-like C2-type 1.		B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Missense_Mutation	SNP	ENST00000331898.7	37	c.280A>T	CCDS8492.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.547092	0.45383	.	.	ENSG00000183715	ENST00000331898;ENST00000524381;ENST00000374778;ENST00000541867	T;T;T;T	0.26373	1.74;1.74;1.74;1.74	5.83	5.83	0.93111	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.33813	N	0.004526	T	0.14960	0.0361	N	0.05158	-0.105	0.46749	D	0.999181	B;P;B;B	0.37207	0.048;0.587;0.056;0.024	B;B;B;B	0.37091	0.241;0.241;0.206;0.145	T	0.17289	-1.0374	10	0.25751	T	0.34	-11.0398	16.1846	0.81942	0.0:0.0:0.0:1.0	.	94;87;94;94	B7ZLQ1;Q7Z3W6;B7ZLQ0;Q14982	.;.;.;OPCM_HUMAN	S	94;87;53;94	ENSP00000330862:T94S;ENSP00000434750:T87S;ENSP00000363910:T53S;ENSP00000445496:T94S	ENSP00000330862:T94S	T	-	1	0	OPCML	132032312	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.859000	0.62954	2.229000	0.72834	0.533000	0.62120	ACA		0.532	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3	NM_001012393	
DDX12P	440081	broad.mit.edu	37	12	9578354	9578354	+	IGR	SNP	A	A	C			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr12:9578354A>C								RP13-735L24.1 (28141 upstream) : SNORA75 (19299 downstream)																							AATTGCTGAAACCCAGCCAGT	0.597																																						uc010sgs.1																			0					0						c.(1588-1590)TTT>GTT		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12							7.0	10.0	9.0					12																	9578354		685	1572	2257	SO:0001628	intergenic_variant	440081							g.chr12:9578354A>C																													12.37:g.9578354A>C							p.F530V	NM_004400	NP_004391					16	1783	-									Missense_Mutation	SNP		37	c.1588T>G																																																																																				0	0.597								
MVK	4598	broad.mit.edu	37	12	110023885	110023885	+	Missense_Mutation	SNP	A	A	G			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr12:110023885A>G	ENST00000228510.3	+	6	662	c.586A>G	c.(586-588)Att>Gtt	p.I196V	MVK_ENST00000539575.1_Missense_Mutation_p.I144V|MVK_ENST00000541384.1_Missense_Mutation_p.I2V|MVK_ENST00000539696.1_Intron|MVK_ENST00000392727.3_Missense_Mutation_p.I144V|MVK_ENST00000535044.1_3'UTR	NM_000431.2|NM_001114185.1	NP_000422.1|NP_001107657.1	Q03426	KIME_HUMAN	mevalonate kinase	196					cholesterol biosynthetic process (GO:0006695)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|isoprenoid biosynthetic process (GO:0008299)|negative regulation of inflammatory response (GO:0050728)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|mevalonate kinase activity (GO:0004496)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						GGAGAGAATGATTCACGGGAA	0.453																																						uc001toy.3																			0					0						c.(586-588)ATT>GTT		mevalonate kinase							86.0	81.0	83.0					12																	110023885		2203	4300	6503	SO:0001583	missense	4598				cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|peroxisome	ATP binding|identical protein binding|mevalonate kinase activity	g.chr12:110023885A>G	M88468	CCDS9132.1, CCDS73522.1	12q24	2014-09-17	2008-01-30		ENSG00000110921	ENSG00000110921	2.7.1.36		7530	protein-coding gene	gene with protein product	"""LH receptor mRNA-binding protein"", ""mevalonic aciduria"""	251170	"""mevalonate kinase (mevalonic aciduria)"""			1377680	Standard	XM_005253883		Approved	LRBP, MK	uc001toy.4	Q03426	OTTHUMG00000169256	ENST00000228510.3:c.586A>G	12.37:g.110023885A>G	ENSP00000228510:p.Ile196Val					MVK_uc009zvk.2_Missense_Mutation_p.I196V|MVK_uc010sxr.1_Missense_Mutation_p.I144V|MVK_uc001toz.3_Missense_Mutation_p.I2V|MVK_uc001tpc.3_RNA	p.I196V	NM_001114185	NP_001107657	Q03426	KIME_HUMAN			6	770	+			196						Missense_Mutation	SNP	ENST00000228510.3	37	c.586A>G	CCDS9132.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.968839	0.74131	.	.	ENSG00000110921	ENST00000546277;ENST00000228510;ENST00000392727;ENST00000539575;ENST00000541384	D;D;D;D;D	0.97688	-2.14;-2.14;-2.14;-2.14;-4.49	5.12	5.12	0.69794	Ribosomal protein S5 domain 2-type fold (1);GHMP kinase (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.000000	0.85682	D	0.000000	D	0.96565	0.8879	L	0.39633	1.23	0.58432	D	0.999999	B;P	0.51933	0.328;0.949	B;P	0.56398	0.111;0.797	D	0.94643	0.7832	10	0.13470	T	0.59	-12.5897	11.3032	0.49318	1.0:0.0:0.0:0.0	.	144;196	F5H8H2;Q03426	.;KIME_HUMAN	V	196;196;144;144;2	ENSP00000438153:I196V;ENSP00000228510:I196V;ENSP00000376487:I144V;ENSP00000443551:I144V;ENSP00000443182:I2V	ENSP00000228510:I196V	I	+	1	0	MVK	108508268	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.029000	0.88807	1.921000	0.55644	0.528000	0.53228	ATT		0.453	MVK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403143.1	NM_000431	
FZD10	11211	broad.mit.edu	37	12	130647861	130647861	+	Missense_Mutation	SNP	A	A	T			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr12:130647861A>T	ENST00000229030.4	+	1	858	c.374A>T	c.(373-375)aAc>aTc	p.N125I	FZD10-AS1_ENST00000505807.2_RNA|FZD10_ENST00000539839.1_Missense_Mutation_p.Q92H			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	125	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	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)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		GAGCAGTTCAACTTCAAGTGG	0.642																																						uc001uii.2																			0				lung(3)|breast(1)|central_nervous_system(1)	5						c.(373-375)AAC>ATC		frizzled 10 precursor							97.0	94.0	95.0					12																	130647861		2203	4300	6503	SO:0001583	missense	11211				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr12:130647861A>T	AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4039	protein-coding gene	gene with protein product		606147	"""frizzled (Drosophila) homolog 10"", ""frizzled homolog 10 (Drosophila)"", ""frizzled 10, seven transmembrane spanning receptor"", ""frizzled family receptor 10"""			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.374A>T	12.37:g.130647861A>T	ENSP00000229030:p.Asn125Ile					uc001uig.1_5'Flank|uc001uih.1_5'Flank	p.N125I	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)	1	830	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		125			FZ.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000229030.4	37	c.374A>T	CCDS9267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.21|10.21	1.287538|1.287538	0.23478|0.23478	.|.	.|.	ENSG00000111432|ENSG00000111432	ENST00000229030|ENST00000539839	T|.	0.80214|.	-1.35|.	4.81|4.81	3.66|3.66	0.41972|0.41972	Frizzled domain (5);|.	0.117466|.	0.53938|.	U|.	0.000044|.	T|T	0.66436|0.66436	0.2789|0.2789	M|M	0.76838|0.76838	2.35|2.35	0.44595|0.44595	D|D	0.997564|0.997564	B|.	0.26876|.	0.162|.	B|.	0.31245|.	0.126|.	T|T	0.66606|0.66606	-0.5881|-0.5881	10|6	0.87932|0.87932	D|D	0|0	.|.	6.9193|6.9193	0.24378|0.24378	0.7696:0.1504:0.08:0.0|0.7696:0.1504:0.08:0.0	.|.	125|.	Q9ULW2|.	FZD10_HUMAN|.	I|H	125|92	ENSP00000229030:N125I|.	ENSP00000229030:N125I|ENSP00000438460:Q92H	N|Q	+|+	2|3	0|2	FZD10|FZD10	129213814|129213814	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.489000|3.489000	0.53237|0.53237	0.690000|0.690000	0.31570|0.31570	0.459000|0.459000	0.35465|0.35465	AAC|CAA		0.642	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
OLFM4	10562	broad.mit.edu	37	13	53624555	53624555	+	Silent	SNP	T	T	A			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr13:53624555T>A	ENST00000219022.2	+	5	1260	c.1182T>A	c.(1180-1182)gtT>gtA	p.V394V		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	394	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				cell adhesion (GO:0007155)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein homooligomerization (GO:0051260)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	cadherin binding (GO:0045296)|catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		GATTGTGGGTTATTTATTCAA	0.398																																						uc001vhl.2																			0				skin(1)	1						c.(1180-1182)GTT>GTA		olfactomedin 4 precursor							178.0	173.0	175.0					13																	53624555		2203	4300	6503	SO:0001819	synonymous_variant	10562				cell adhesion	extracellular space		g.chr13:53624555T>A	AY358567	CCDS9440.1	13q14	2004-06-25			ENSG00000102837	ENSG00000102837			17190	protein-coding gene	gene with protein product		614061					Standard	NM_006418		Approved	OlfD, GW112, GC1	uc001vhl.3	Q6UX06	OTTHUMG00000016981	ENST00000219022.2:c.1182T>A	13.37:g.53624555T>A						OLFM4_uc001vhk.1_3'UTR	p.V394V	NM_006418	NP_006409	Q6UX06	OLFM4_HUMAN		GBM - Glioblastoma multiforme(99;3.13e-08)	5	1182	+		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	394			Olfactomedin-like.		O95362|Q5VWG0|Q86T22	Silent	SNP	ENST00000219022.2	37	c.1182T>A	CCDS9440.1																																																																																				0.398	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045112.2	NM_006418	
OR10G2	26534	broad.mit.edu	37	14	22102705	22102705	+	Silent	SNP	C	C	T			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr14:22102705C>T	ENST00000542433.1	-	1	391	c.294G>A	c.(292-294)ccG>ccA	p.P98P		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	98						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		AGCCACCAAACGGGATAGCCT	0.493																																						uc010tmc.1																			0				skin(1)	1						c.(292-294)CCG>CCA		olfactory receptor, family 10, subfamily G,							54.0	52.0	53.0					14																	22102705		2203	4300	6503	SO:0001819	synonymous_variant	26534				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22102705C>T		CCDS32047.1	14q11.2	2013-09-24			ENSG00000255582	ENSG00000255582		"""GPCR / Class A : Olfactory receptors"""	8170	protein-coding gene	gene with protein product						8188290	Standard	NM_001005466		Approved		uc010tmc.2	Q8NGC3	OTTHUMG00000168890	ENST00000542433.1:c.294G>A	14.37:g.22102705C>T							p.P98P	NM_001005466	NP_001005466	Q8NGC3	O10G2_HUMAN		GBM - Glioblastoma multiforme(265;0.0142)	1	294	-	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)	98			Extracellular (Potential).		B2RPD0	Silent	SNP	ENST00000542433.1	37	c.294G>A	CCDS32047.1																																																																																				0.493	OR10G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401525.1		
FOXA1	3169	broad.mit.edu	37	14	38060669	38060669	+	Silent	SNP	G	G	A			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr14:38060669G>A	ENST00000250448.2	-	2	1381	c.1320C>T	c.(1318-1320)ggC>ggT	p.G440G	FOXA1_ENST00000540786.1_Silent_p.G407G|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	440					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CCGAGGCGCTGCCTAGAGGCA	0.607																																						uc001wuf.2																			0					0						c.(1318-1320)GGC>GGT		forkhead box A1							64.0	64.0	64.0					14																	38060669		2203	4300	6503	SO:0001819	synonymous_variant	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38060669G>A	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.1320C>T	14.37:g.38060669G>A						FOXA1_uc010tpz.1_Silent_p.G407G	p.G440G	NM_004496	NP_004487	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	1632	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		440					B2R9H6|B7ZAP5|Q9H2A0	Silent	SNP	ENST00000250448.2	37	c.1320C>T	CCDS9665.1																																																																																				0.607	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1		
ZNF839	55778	broad.mit.edu	37	14	102792551	102792551	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr14:102792551C>T	ENST00000558850.1	+	2	520	c.170C>T	c.(169-171)cCt>cTt	p.P57L	ZNF839_ENST00000442396.2_Missense_Mutation_p.P173L|ZNF839_ENST00000262236.5_Missense_Mutation_p.P57L|ZNF839_ENST00000559185.1_Missense_Mutation_p.P57L	NM_001267827.1	NP_001254756.1	A8K0R7	ZN839_HUMAN	zinc finger protein 839	57							metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						TGCCAACCTCCTGCTCAGGGG	0.597																																						uc001ylo.2																			0				ovary(1)|central_nervous_system(1)	2						c.(169-171)CCT>CTT		zinc finger protein 839							42.0	45.0	44.0					14																	102792551		1937	4145	6082	SO:0001583	missense	55778					intracellular	zinc ion binding	g.chr14:102792551C>T	AK093342	CCDS45164.1, CCDS58336.1	14q32.32	2010-05-06	2008-06-23	2008-06-23	ENSG00000022976	ENSG00000022976			20345	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 131"""	C14orf131			Standard	NM_018335		Approved		uc010awk.2	A8K0R7		ENST00000558850.1:c.170C>T	14.37:g.102792551C>T	ENSP00000453363:p.Pro57Leu					ZNF839_uc010awk.1_Missense_Mutation_p.P173L|ZNF839_uc001ylp.2_RNA|ZNF839_uc001ylq.1_Missense_Mutation_p.P57L|ZNF839_uc001ylr.2_Missense_Mutation_p.P57L	p.P57L	NM_018335	NP_060805	A8K0R7	ZN839_HUMAN			2	520	+			57					B3KSD2|Q53FH5|Q6GPI5|Q86TU1|Q9BQ86|Q9NUU3	Missense_Mutation	SNP	ENST00000558850.1	37	c.170C>T	CCDS58336.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.864702	0.51482	.	.	ENSG00000022976	ENST00000442396;ENST00000262236	T;T	0.68479	-0.33;-0.33	5.06	3.15	0.36227	.	.	.	.	.	T	0.75148	0.3810	L	0.53249	1.67	0.41102	D	0.985672	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.66351	0.943;0.943;0.943	T	0.76217	-0.3040	9	0.87932	D	0	.	12.2574	0.54631	0.309:0.691:0.0:0.0	.	173;57;57	A8K0R7-5;A8K0R7-2;A8K0R7	.;.;ZN839_HUMAN	L	173;57	ENSP00000399863:P173L;ENSP00000262236:P57L	ENSP00000262236:P57L	P	+	2	0	ZNF839	101862304	0.180000	0.23148	0.337000	0.25536	0.418000	0.31294	1.071000	0.30666	0.496000	0.27904	0.556000	0.70494	CCT		0.597	ZNF839-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415492.2	NM_018335	
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A	rs201972834		TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652																																						uc002cdi.2																			10	Substitution - Missense(10)		kidney(7)|prostate(2)|endometrium(1)		0						c.(523-525)GGC>AGC		RecName: Full=WAS protein family homolog 2; AltName: Full=Protein FAM39B; AltName: Full=CXYorf1-like protein on chromosome 2;																																						374666							g.chr15:102515299G>A			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102515299G>A						WASH3P_uc002cdl.2_Missense_Mutation_p.G175S|WASH3P_uc002cdk.2_RNA|WASH3P_uc002cdp.2_Missense_Mutation_p.G175S|WASH3P_uc010bpo.2_RNA|WASH3P_uc002cdq.2_RNA|WASH3P_uc002cdr.2_RNA	p.G175S	NR_003659						9	1943	+									Missense_Mutation	SNP	ENST00000557932.1	37	c.523G>A		.	.	.	.	.	.	.	.	.	.	g	2.376	-0.343229	0.05243	.	.	ENSG00000185596	ENST00000338304;ENST00000398121	.	.	.	1.01	1.01	0.19927	.	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	.	.	.	.	.	.	.	.	.	.	.	.	T	0.51044	-0.8755	4	.	.	.	-23.1056	7.9382	0.29941	0.0:0.0:1.0:0.0	.	.	.	.	S	383;374	.	.	G	+	1	0	WASH3P	100332822	1.000000	0.71417	0.997000	0.53966	0.230000	0.25150	8.205000	0.89743	0.863000	0.35553	0.184000	0.17185	GGC		0.652	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163	
ANKS4B	257629	broad.mit.edu	37	16	21261689	21261689	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr16:21261689C>T	ENST00000311620.5	+	2	875	c.802C>T	c.(802-804)Cgt>Tgt	p.R268C		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	268					response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		CATTCTCAATCGTCCAGGTCT	0.468																																						uc010bwp.1																			0				ovary(2)	2						c.(802-804)CGT>TGT		harmonin-interacting ankyrin-repeat containing							97.0	102.0	100.0					16																	21261689		2042	4201	6243	SO:0001583	missense	257629							g.chr16:21261689C>T	AK096138	CCDS42130.1	16p12.2	2013-01-10				ENSG00000175311		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	26795	protein-coding gene	gene with protein product		609901					Standard	NM_145865		Approved	FLJ38819, HARP	uc010bwp.1	Q8N8V4		ENST00000311620.5:c.802C>T	16.37:g.21261689C>T	ENSP00000308772:p.Arg268Cys					CRYM_uc010bwq.1_Intron	p.R268C	NM_145865	NP_665872	Q8N8V4	ANS4B_HUMAN		GBM - Glioblastoma multiforme(48;0.0565)	2	845	+			268						Missense_Mutation	SNP	ENST00000311620.5	37	c.802C>T	CCDS42130.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.314570	0.60524	.	.	ENSG00000175311	ENST00000311620	T	0.64438	-0.1	5.77	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.60143	0.2246	M	0.78801	2.425	0.80722	D	1	P	0.36909	0.573	B	0.25987	0.065	T	0.66763	-0.5841	10	0.87932	D	0	-12.0527	14.0004	0.64431	0.0:0.9272:0.0:0.0728	.	268	Q8N8V4	ANS4B_HUMAN	C	268	ENSP00000308772:R268C	ENSP00000308772:R268C	R	+	1	0	ANKS4B	21169190	0.906000	0.30813	0.964000	0.40570	0.619000	0.37552	1.882000	0.39648	1.439000	0.47511	0.591000	0.81541	CGT		0.468	ANKS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436535.1	NM_145865	
PRKCB	5579	broad.mit.edu	37	16	24185839	24185839	+	Splice_Site	SNP	A	A	T			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr16:24185839A>T	ENST00000321728.7	+	12	1507	c.1332A>T	c.(1330-1332)gtA>gtT	p.V444V	PRKCB_ENST00000303531.7_Splice_Site_p.V444V	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	444	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	TTAATTTCAGATTTTACGCTG	0.383																																						uc002dmd.2																			0				ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1)	9						c.(1330-1332)GTA>GTT		protein kinase C, beta isoform 1	Vitamin E(DB00163)						60.0	61.0	61.0					16																	24185839		2197	4300	6497	SO:0001630	splice_region_variant	5579				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	g.chr16:24185839A>T	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.1332-1A>T	16.37:g.24185839A>T						PRKCB_uc002dme.2_Silent_p.V444V	p.V444V	NM_212535	NP_997700	P05771	KPCB_HUMAN			12	1529	+			444			Protein kinase.		C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Silent	SNP	ENST00000321728.7	37	c.1332A>T	CCDS10618.1																																																																																				0.383	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535	Silent
CHD9	80205	broad.mit.edu	37	16	53337839	53337839	+	Missense_Mutation	SNP	C	C	T	rs201408451		TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr16:53337839C>T	ENST00000398510.3	+	30	6008	c.5921C>T	c.(5920-5922)gCt>gTt	p.A1974V	CHD9_ENST00000447540.1_Missense_Mutation_p.A1974V|CHD9_ENST00000566029.1_Missense_Mutation_p.A1974V|CHD9_ENST00000564845.1_Missense_Mutation_p.A1974V			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1974					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				CTTATTGGTGCTGCCAAACAC	0.468																																						uc002ehb.2																			0				lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7						c.(5920-5922)GCT>GTT		chromodomain helicase DNA binding protein 9							116.0	112.0	113.0					16																	53337839		1980	4152	6132	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53337839C>T	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.5921C>T	16.37:g.53337839C>T	ENSP00000381522:p.Ala1974Val					CHD9_uc002egy.2_Missense_Mutation_p.A1974V|CHD9_uc002ehc.2_Missense_Mutation_p.A1974V|CHD9_uc002ehf.2_Missense_Mutation_p.A1088V|CHD9_uc010cbw.2_Intron|CHD9_uc002ehg.1_5'UTR	p.A1974V	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN			30	6085	+		all_cancers(37;0.0212)	1974					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.5921C>T		.	.	.	.	.	.	.	.	.	.	C	19.54	3.847448	0.71603	.	.	ENSG00000177200	ENST00000447540;ENST00000398510	D;D	0.87966	-2.32;-2.32	6.16	6.16	0.99307	.	0.000000	0.64402	D	0.000009	D	0.91236	0.7238	L	0.39898	1.24	0.80722	D	1	P;D;D	0.89917	0.678;0.999;1.0	B;D;D	0.85130	0.421;0.994;0.997	D	0.88549	0.3115	10	0.33141	T	0.24	-18.4112	20.8598	0.99761	0.0:1.0:0.0:0.0	.	1974;1974;1974	Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;CHD9_HUMAN;.	V	1974	ENSP00000396345:A1974V;ENSP00000381522:A1974V	ENSP00000381522:A1974V	A	+	2	0	CHD9	51895340	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.770000	0.85390	2.937000	0.99478	0.650000	0.86243	GCT		0.468	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134	
SEZ6	124925	broad.mit.edu	37	17	27308674	27308674	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr17:27308674G>A	ENST00000317338.12	-	2	867	c.439C>T	c.(439-441)Cct>Tct	p.P147S	SEZ6_ENST00000335960.6_Missense_Mutation_p.P147S|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000442608.3_Missense_Mutation_p.P147S|SEZ6_ENST00000360295.9_Missense_Mutation_p.P147S			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	147	Pro-rich.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|negative regulation of dendrite development (GO:2000171)|positive regulation of dendrite development (GO:1900006)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	apical dendrite (GO:0097440)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			CGAAGCATAGGGGACTCTGAC	0.652																																						uc002hdp.2																			0				large_intestine(1)|central_nervous_system(1)	2						c.(439-441)CCT>TCT		seizure related 6 homolog isoform 1							38.0	42.0	40.0					17																	27308674		2203	4300	6503	SO:0001583	missense	124925					integral to membrane|plasma membrane		g.chr17:27308674G>A	AY038048	CCDS45638.1, CCDS45639.1	17q11.2	2008-03-06	2001-11-28		ENSG00000063015	ENSG00000063015			15955	protein-coding gene	gene with protein product			"""seizure related gene 6 (mouse) homolog"""			17086543	Standard	NM_178860		Approved		uc002hdp.2	Q53EL9	OTTHUMG00000168010	ENST00000317338.12:c.439C>T	17.37:g.27308674G>A	ENSP00000312942:p.Pro147Ser					SEZ6_uc002hdm.2_RNA|SEZ6_uc010cry.1_Missense_Mutation_p.P147S|SEZ6_uc002hdq.1_Missense_Mutation_p.P22S|SEZ6_uc010crz.1_Missense_Mutation_p.P147S	p.P147S	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)		2	633	-	Lung NSC(42;0.0137)		147			Pro-rich.|Extracellular (Potential).		B6ZDN1|Q8N701|Q8NB57|Q8ND50|Q8TD25|Q96NI5|Q96NQ3	Missense_Mutation	SNP	ENST00000317338.12	37	c.439C>T	CCDS45639.1	.	.	.	.	.	.	.	.	.	.	G	8.155	0.788152	0.16258	.	.	ENSG00000063015	ENST00000442608;ENST00000360295;ENST00000317338;ENST00000335960;ENST00000541381	T;T;T	0.26957	1.74;1.7;2.62	4.84	0.464	0.16706	.	0.267871	0.25222	N	0.032231	T	0.14787	0.0357	N	0.19112	0.55	0.21719	N	0.999575	B;P;B	0.44478	0.015;0.836;0.018	B;B;B	0.44085	0.021;0.44;0.021	T	0.10894	-1.0610	10	0.49607	T	0.09	.	3.7746	0.08654	0.284:0.0:0.5471:0.1689	.	147;147;147	F5GZF9;Q53EL9-3;Q53EL9	.;.;SEZ6_HUMAN	S	147;147;22;147;147	ENSP00000403784:P147S;ENSP00000353440:P147S;ENSP00000337407:P147S	ENSP00000312942:P22S	P	-	1	0	SEZ6	24332800	0.053000	0.20554	0.281000	0.24762	0.373000	0.29922	0.630000	0.24553	-0.122000	0.11766	0.462000	0.41574	CCT		0.652	SEZ6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397475.3		
PPM1D	8493	broad.mit.edu	37	17	58678099	58678099	+	Silent	SNP	C	C	T			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr17:58678099C>T	ENST00000305921.3	+	1	556	c.324C>T	c.(322-324)ggC>ggT	p.G108G		NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	108	PP2C-like.				G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of cell proliferation (GO:0008285)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			ACGGGCACGGCGGGCGGGAGG	0.692																																						uc002iyt.1																			0				upper_aerodigestive_tract(1)	1						c.(322-324)GGC>GGT		protein phosphatase 1D							20.0	17.0	18.0					17																	58678099		1936	3902	5838	SO:0001819	synonymous_variant	8493				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr17:58678099C>T	U78305	CCDS11625.1	17q23.3	2014-09-17	2010-03-05		ENSG00000170836	ENSG00000170836		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9277	protein-coding gene	gene with protein product	"""wild-type p53-induced phosphatase 1"", ""protein phosphatase 2C, delta isoform"""	605100	"""protein phosphatase 1D magnesium-dependent, delta isoform"""			9177166	Standard	NM_003620		Approved	Wip1, PP2C-DELTA	uc002iyt.2	O15297		ENST00000305921.3:c.324C>T	17.37:g.58678099C>T						PPM1D_uc010ddm.1_RNA	p.G108G	NM_003620	NP_003611	O15297	PPM1D_HUMAN	Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)		1	546	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		108			PP2C-like.		Q53XP4|Q6P991|Q8IVR6	Silent	SNP	ENST00000305921.3	37	c.324C>T	CCDS11625.1																																																																																				0.692	PPM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449474.1	NM_003620	
SLC39A11	201266	broad.mit.edu	37	17	70644980	70644980	+	Silent	SNP	G	G	A	rs146713017		TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr17:70644980G>A	ENST00000542342.2	-	9	1000	c.912C>T	c.(910-912)taC>taT	p.Y304Y	SLC39A11_ENST00000579988.1_5'UTR|SLC39A11_ENST00000255559.3_Silent_p.Y297Y	NM_001159770.1	NP_001153242.1	Q8N1S5	S39AB_HUMAN	solute carrier family 39, member 11	304					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			endometrium(1)|large_intestine(4)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						CCATGACCACGTAGACCATGG	0.642																																					NSCLC(95;736 1527 12296 39625 41839)	uc002jjb.2																			0				ovary(1)	1						c.(910-912)TAC>TAT		solute carrier family 39, member 11 isoform 1		G	,	1,4405	2.1+/-5.4	0,1,2202	72.0	70.0	70.0		912,891	-3.3	1.0	17	dbSNP_134	70	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SLC39A11	NM_001159770.1,NM_139177.3	,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,	304/343,297/336	70644980	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	201266				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr17:70644980G>A	AF331643	CCDS11690.1, CCDS54160.1	17q24.3-q25.1	2014-08-12	2013-07-17	2003-10-24	ENSG00000133195	ENSG00000133195		"""Solute carriers"""	14463	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 26"""	C17orf26		11707075	Standard	NM_139177		Approved		uc002jjb.3	Q8N1S5	OTTHUMG00000178306	ENST00000542342.2:c.912C>T	17.37:g.70644980G>A						SLC39A11_uc002jja.2_Silent_p.Y297Y	p.Y304Y	NM_001159770	NP_001153242	Q8N1S5	S39AB_HUMAN			9	1027	-			304			Helical; (Potential).		B2R8H7|Q8WZ81	Silent	SNP	ENST00000542342.2	37	c.912C>T	CCDS54160.1																																																																																				0.642	SLC39A11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441442.1		
TBC1D16	125058	broad.mit.edu	37	17	77915925	77915925	+	Silent	SNP	C	C	T	rs149251119	byFrequency	TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr17:77915925C>T	ENST00000310924.2	-	11	2104	c.1989G>A	c.(1987-1989)acG>acA	p.T663T	TBC1D16_ENST00000576768.1_Silent_p.T288T|TBC1D16_ENST00000340848.7_Silent_p.T301T	NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	663							Rab GTPase activator activity (GO:0005097)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			GCATCTGGTCCGTGGCCAGCT	0.622													C|||	2	0.000399361	0.0	0.0	5008	,	,		11668	0.0		0.002	False		,,,				2504	0.0				Ovarian(14;397 562 4850 31922 49378)	uc002jxj.2																			0					0						c.(1987-1989)ACG>ACA		TBC1 domain family, member 16		C		0,4404		0,0,2202	72.0	46.0	55.0		1989	-9.1	0.6	17	dbSNP_134	55	5,8595	3.0+/-9.4	1,3,4296	no	coding-synonymous	TBC1D16	NM_019020.2		1,3,6498	TT,TC,CC		0.0581,0.0,0.0384		663/768	77915925	5,12999	2202	4300	6502	SO:0001819	synonymous_variant	125058					intracellular	Rab GTPase activator activity	g.chr17:77915925C>T	AL157485	CCDS11766.1, CCDS62351.1, CCDS62352.1, CCDS62353.1	17q25.3	2013-07-10				ENSG00000167291			28356	protein-coding gene	gene with protein product						23019362	Standard	NM_019020		Approved	MGC25062, FLJ20748	uc002jxj.4	Q8TBP0		ENST00000310924.2:c.1989G>A	17.37:g.77915925C>T						TBC1D16_uc002jxh.2_Silent_p.T301T|TBC1D16_uc002jxi.2_Silent_p.T288T	p.T663T	NM_019020	NP_061893	Q8TBP0	TBC16_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)		11	2105	-	all_neural(118;0.167)		663					B9A6L7|I3L1E0|I3L4U2|Q8N3Z4|Q96DH7	Silent	SNP	ENST00000310924.2	37	c.1989G>A	CCDS11766.1																																																																																				0.622	TBC1D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437145.1	NM_019020	
CYP2A13	1553	broad.mit.edu	37	19	41597775	41597775	+	Missense_Mutation	SNP	C	C	T	rs143140637	byFrequency	TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr19:41597775C>T	ENST00000330436.3	+	5	793	c.793C>T	c.(793-795)Cgg>Tgg	p.R265W		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	265					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	CAATTCCCCACGGGACTTCAT	0.582													c|||	2	0.000399361	0.0015	0.0	5008	,	,		19160	0.0		0.0	False		,,,				2504	0.0					uc002opt.2																			0				ovary(2)|skin(1)	3						c.(793-795)CGG>TGG		cytochrome P450, family 2, subfamily A,	Clomipramine(DB01242)|Nicotine(DB00184)	C	TRP/ARG	2,4404		0,2,2201	158.0	123.0	135.0		793	0.5	0.9	19	dbSNP_134	135	0,8600		0,0,4300	no	missense	CYP2A13	NM_000766.3	101	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	265/495	41597775	2,13004	2203	4300	6503	SO:0001583	missense	1553				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	g.chr19:41597775C>T	U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"""Cytochrome P450s"""	2608	protein-coding gene	gene with protein product		608055	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"""			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.793C>T	19.37:g.41597775C>T	ENSP00000332679:p.Arg265Trp						p.R265W	NM_000766	NP_000757	Q16696	CP2AD_HUMAN			5	802	+			265					Q53YR8|Q6R569|Q6R570|Q9H2X2	Missense_Mutation	SNP	ENST00000330436.3	37	c.793C>T	CCDS12571.1	.	.	.	.	.	.	.	.	.	.	.	13.26	2.183220	0.38511	4.54E-4	0.0	ENSG00000197838	ENST00000330436	T	0.71461	-0.57	4.24	0.54	0.17163	.	0.117466	0.53938	N	0.000048	T	0.75810	0.3900	H	0.96080	3.765	0.21675	N	0.999595	P	0.48503	0.911	B	0.37650	0.255	T	0.73588	-0.3935	10	0.87932	D	0	.	12.1887	0.54254	0.5573:0.4427:0.0:0.0	.	265	Q16696	CP2AD_HUMAN	W	265	ENSP00000332679:R265W	ENSP00000332679:R265W	R	+	1	2	CYP2A13	46289615	0.029000	0.19370	0.948000	0.38648	0.820000	0.46376	0.343000	0.19944	0.026000	0.15269	0.484000	0.47621	CGG		0.582	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1	NM_000766	
LHCGR	3973	broad.mit.edu	37	2	48958384	48958384	+	Missense_Mutation	SNP	A	A	T			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr2:48958384A>T	ENST00000294954.7	-	2	236	c.215T>A	c.(214-216)cTt>cAt	p.L72H	LHCGR_ENST00000401907.1_Missense_Mutation_p.L72H|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000344775.3_Missense_Mutation_p.L72H|LHCGR_ENST00000403273.1_Missense_Mutation_p.L72H|LHCGR_ENST00000405626.1_Missense_Mutation_p.L72H	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	72					activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	GACCTCATTAAGTCCTCTGAA	0.338																																						uc002rwu.3																			0				ovary(3)|lung(2)|breast(2)|skin(1)	8						c.(214-216)CTT>CAT		luteinizing hormone/choriogonadotropin receptor	Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)						90.0	92.0	91.0					2																	48958384		2203	4300	6503	SO:0001583	missense	3973	Familial_Male-Limited_Precocious_Puberty			male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	g.chr2:48958384A>T		CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"""GPCR / Class A : Gonadotropin and TSH receptors"""	6585	protein-coding gene	gene with protein product		152790	"""hypergonadotropic hypogonadism"""	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.215T>A	2.37:g.48958384A>T	ENSP00000294954:p.Leu72His					GTF2A1L_uc002rwt.2_Intron|LHCGR_uc002rwv.2_RNA	p.L72H	NM_000233	NP_000224	P22888	LSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		2	285	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	72			Extracellular (Potential).		Q14751|Q15996|Q9UEW9	Missense_Mutation	SNP	ENST00000294954.7	37	c.215T>A	CCDS1842.1	.	.	.	.	.	.	.	.	.	.	A	18.93	3.726706	0.69074	.	.	ENSG00000138039	ENST00000344775;ENST00000294954;ENST00000405626;ENST00000403273;ENST00000401907;ENST00000428232	D;D;D;D;D;D	0.91843	-2.92;-2.88;-2.92;-2.92;-2.88;-2.14	5.89	5.89	0.94794	.	0.066878	0.64402	D	0.000009	D	0.97514	0.9186	H	0.97732	4.065	0.47123	D	0.999321	D	0.89917	1.0	D	0.97110	1.0	D	0.98669	1.0687	9	.	.	.	.	14.0313	0.64617	1.0:0.0:0.0:0.0	.	72	P22888	LSHR_HUMAN	H	72;72;72;72;72;38	ENSP00000344301:L72H;ENSP00000294954:L72H;ENSP00000386033:L72H;ENSP00000385847:L72H;ENSP00000385406:L72H;ENSP00000403748:L38H	.	L	-	2	0	LHCGR	48811888	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.613000	0.67688	2.247000	0.74100	0.482000	0.46254	CTT		0.338	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251364.4	NM_000233.3	
TSGA10	80705	broad.mit.edu	37	2	99636771	99636771	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr2:99636771C>T	ENST00000393483.3	-	18	2633	c.1789G>A	c.(1789-1791)Gaa>Aaa	p.E597K	TSGA10_ENST00000410001.1_Missense_Mutation_p.E597K|TSGA10_ENST00000355053.4_Missense_Mutation_p.E597K|TSGA10_ENST00000539964.1_Missense_Mutation_p.E597K	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	597	Interaction with HIF1A. {ECO:0000250}.				cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						CAAAGGTGTTCTTTAAGAAGC	0.323																																						uc002szg.3																			0				ovary(1)|central_nervous_system(1)	2						c.(1789-1791)GAA>AAA		testis specific, 10							73.0	71.0	72.0					2																	99636771		2203	4300	6503	SO:0001583	missense	80705				spermatogenesis	cytoplasm|nuclear membrane		g.chr2:99636771C>T	AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"""cancer/testis antigen 79"""	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.1789G>A	2.37:g.99636771C>T	ENSP00000377123:p.Glu597Lys					TSGA10_uc002szh.3_Missense_Mutation_p.E597K|TSGA10_uc002szi.3_Missense_Mutation_p.E597K|TSGA10_uc010fin.1_Missense_Mutation_p.E597K	p.E597K	NM_182911	NP_878915	Q9BZW7	TSG10_HUMAN			16	2417	-			597			Interaction with HIF1A (By similarity).		B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Missense_Mutation	SNP	ENST00000393483.3	37	c.1789G>A	CCDS2037.1	.	.	.	.	.	.	.	.	.	.	C	32	5.172336	0.94807	.	.	ENSG00000135951	ENST00000393483;ENST00000410001;ENST00000355053;ENST00000539964;ENST00000409564;ENST00000393482	T;T;T;T;T;T	0.79454	2.61;2.61;2.61;2.61;-1.27;2.61	5.3	5.3	0.74995	.	0.067785	0.64402	D	0.000020	T	0.81039	0.4740	L	0.48642	1.525	0.80722	D	1	D	0.58268	0.982	P	0.54965	0.765	T	0.77427	-0.2592	10	0.27785	T	0.31	-16.3931	18.1183	0.89563	0.0:1.0:0.0:0.0	.	597	Q9BZW7	TSG10_HUMAN	K	597;597;597;597;527;597	ENSP00000377123:E597K;ENSP00000386956:E597K;ENSP00000347161:E597K;ENSP00000444419:E597K;ENSP00000386508:E527K;ENSP00000377122:E597K	ENSP00000347161:E597K	E	-	1	0	TSGA10	99003203	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.601000	0.67606	2.759000	0.94783	0.650000	0.86243	GAA		0.323	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253125.1	NM_182911	
GPD2	2820	broad.mit.edu	37	2	157439407	157439407	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr2:157439407G>A	ENST00000310454.6	+	17	2533	c.2161G>A	c.(2161-2163)Gac>Aac	p.D721N	GPD2_ENST00000409125.4_Missense_Mutation_p.D494N|GPD2_ENST00000540309.1_3'UTR|GPD2_ENST00000496190.1_3'UTR|GPD2_ENST00000438166.2_Missense_Mutation_p.D721N|GPD2_ENST00000409674.1_Missense_Mutation_p.D721N	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	721					camera-type eye development (GO:0043010)|cellular lipid metabolic process (GO:0044255)|gluconeogenesis (GO:0006094)|glycerol catabolic process (GO:0019563)|glycerol-3-phosphate metabolic process (GO:0006072)|multicellular organism growth (GO:0035264)|small molecule metabolic process (GO:0044281)	glycerol-3-phosphate dehydrogenase complex (GO:0009331)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|glycerol-3-phosphate dehydrogenase activity (GO:0004368)|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity (GO:0052591)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						AATTCCAGTGGACCGTAGTTG	0.443																																						uc002tzf.3																			0				ovary(1)	1						c.(2161-2163)GAC>AAC		glycerol-3-phosphate dehydrogenase 2,							88.0	83.0	85.0					2																	157439407		2203	4300	6503	SO:0001583	missense	2820				cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity	g.chr2:157439407G>A		CCDS2202.1	2q24.1	2013-01-10			ENSG00000115159	ENSG00000115159	1.1.1.8	"""EF-hand domain containing"""	4456	protein-coding gene	gene with protein product		138430					Standard	NM_001083112		Approved		uc002tzd.4	P43304	OTTHUMG00000131951	ENST00000310454.6:c.2161G>A	2.37:g.157439407G>A	ENSP00000308610:p.Asp721Asn					GPD2_uc010zch.1_Missense_Mutation_p.D494N|GPD2_uc002tzd.3_Missense_Mutation_p.D721N|GPD2_uc002tze.1_RNA	p.D721N	NM_001083112	NP_001076581	P43304	GPDM_HUMAN			17	2521	+			721					A8K4V0|B3KSA9|Q59FR1|Q9HAP9	Missense_Mutation	SNP	ENST00000310454.6	37	c.2161G>A	CCDS2202.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.291372	0.59976	.	.	ENSG00000115159	ENST00000310454;ENST00000409125;ENST00000438166;ENST00000409674	T;T;T;T	0.58210	0.35;0.59;0.35;0.35	5.22	5.22	0.72569	.	0.045098	0.85682	D	0.000000	T	0.48466	0.1501	L	0.49126	1.545	0.58432	D	0.999995	B	0.15141	0.012	B	0.18561	0.022	T	0.42565	-0.9444	10	0.41790	T	0.15	.	14.3866	0.66949	0.0:0.1478:0.8522:0.0	.	721	P43304	GPDM_HUMAN	N	721;494;721;721	ENSP00000308610:D721N;ENSP00000386484:D494N;ENSP00000409708:D721N;ENSP00000386425:D721N	ENSP00000308610:D721N	D	+	1	0	GPD2	157147653	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.412000	0.80091	2.436000	0.82500	0.313000	0.20887	GAC		0.443	GPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254910.3		
XIRP2	129446	broad.mit.edu	37	2	168098387	168098387	+	Silent	SNP	C	C	T			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr2:168098387C>T	ENST00000409728.1	+	9	1331	c.1242C>T	c.(1240-1242)gaC>gaT	p.D414D	XIRP2_ENST00000420519.1_Silent_p.D414D|XIRP2_ENST00000409195.1_Silent_p.D381D|XIRP2_ENST00000409273.1_Silent_p.D159D|XIRP2_ENST00000409756.2_Silent_p.D381D|XIRP2_ENST00000295237.9_Silent_p.D381D|XIRP2_ENST00000409043.1_Silent_p.D381D|XIRP2_ENST00000409605.1_Silent_p.D159D	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	206					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTTATTCTGACAAAGAGATGA	0.368																																						uc002udx.2																			0				skin(7)|ovary(6)|pancreas(1)	14						c.(1141-1143)GAC>GAT		xin actin-binding repeat containing 2 isoform 1							123.0	117.0	119.0					2																	168098387		1834	4078	5912	SO:0001819	synonymous_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168098387C>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.1242C>T	2.37:g.168098387C>T						XIRP2_uc010fpn.2_Silent_p.D414D|XIRP2_uc010fpo.2_Silent_p.D381D|XIRP2_uc010fpp.2_Silent_p.D381D|XIRP2_uc002udy.2_Silent_p.D206D|XIRP2_uc010fpq.2_Silent_p.D159D|XIRP2_uc010fpr.2_Silent_p.D159D	p.D381D	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			7	1161	+			206					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409728.1	37	c.1143C>T	CCDS56143.1																																																																																				0.368	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381	
CARF	79800	broad.mit.edu	37	2	203846966	203846966	+	Missense_Mutation	SNP	T	T	C			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr2:203846966T>C	ENST00000402905.3	+	15	2182	c.1861T>C	c.(1861-1863)Tgc>Cgc	p.C621R	CARF_ENST00000545262.1_Missense_Mutation_p.C545R|CARF_ENST00000320443.8_Missense_Mutation_p.C621R|CARF_ENST00000414439.1_Missense_Mutation_p.C519R|CARF_ENST00000428585.1_Missense_Mutation_p.C545R|CARF_ENST00000438828.2_Missense_Mutation_p.C621R|CARF_ENST00000545253.1_Missense_Mutation_p.C533R|WDR12_ENST00000477723.1_Intron	NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1	NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1	Q8N187	CARTF_HUMAN	calcium responsive transcription factor	621					cellular response to calcium ion (GO:0071277)|cellular response to potassium ion (GO:0035865)|positive regulation of transcription from RNA polymerase II promoter in response to calcium ion (GO:0061400)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)										AAGAGATACATGCTTAACCCA	0.418																																						uc002uzo.2																			0				large_intestine(1)|ovary(1)	2						c.(1861-1863)TGC>CGC		amyotrophic lateral sclerosis 2 (juvenile)							107.0	98.0	101.0					2																	203846966		1908	4126	6034	SO:0001583	missense	79800							g.chr2:203846966T>C	AB053309	CCDS42801.1, CCDS63091.1	2q33.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000138380	ENSG00000138380			14435	protein-coding gene	gene with protein product	"""calcium-response factor"""	607586	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8"""	ALS2CR8		11586298, 11832226	Standard	XM_005246858		Approved	FLJ21579, CaRF, NYD-SP24	uc002uzo.2	Q8N187	OTTHUMG00000154528	ENST00000402905.3:c.1861T>C	2.37:g.203846966T>C	ENSP00000384006:p.Cys621Arg					ALS2CR8_uc010zia.1_Missense_Mutation_p.C545R|ALS2CR8_uc010zib.1_Missense_Mutation_p.C545R|ALS2CR8_uc010zic.1_Missense_Mutation_p.C533R|ALS2CR8_uc002uzp.2_Missense_Mutation_p.C621R	p.C621R	NM_001104586	NP_001098056	Q8N187	AL2S8_HUMAN			15	2141	+			621					B4E1W7|G3V1K7|Q8ND29|Q8WXC0|Q96J78|Q96Q38|Q96Q39|Q9H712	Missense_Mutation	SNP	ENST00000402905.3	37	c.1861T>C	CCDS42801.1	.	.	.	.	.	.	.	.	.	.	T	16.94	3.261723	0.59431	.	.	ENSG00000138380	ENST00000402905;ENST00000414439;ENST00000428585;ENST00000545253;ENST00000545262;ENST00000320443;ENST00000438828	.	.	.	5.67	4.52	0.55395	.	0.271843	0.36303	N	0.002680	T	0.53481	0.1799	L	0.55481	1.735	0.49915	D	0.999834	D;D;P	0.53151	0.958;0.958;0.928	P;P;P	0.51135	0.568;0.66;0.549	T	0.54807	-0.8238	9	0.59425	D	0.04	-0.3984	6.3597	0.21420	0.0:0.0827:0.1715:0.7458	.	533;545;621	B4DIA7;G3V1K7;Q8N187	.;.;AL2S8_HUMAN	R	621;519;545;533;545;621;621	.	ENSP00000316224:C621R	C	+	1	0	ALS2CR8	203555211	0.991000	0.36638	0.997000	0.53966	0.995000	0.86356	1.339000	0.33885	0.991000	0.38814	0.533000	0.62120	TGC		0.418	CARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335768.5	NM_001104586	
EPHA4	2043	broad.mit.edu	37	2	222428934	222428934	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr2:222428934C>T	ENST00000281821.2	-	3	381	c.340G>A	c.(340-342)Gtc>Atc	p.V114I	EPHA4_ENST00000409854.1_Missense_Mutation_p.V114I|EPHA4_ENST00000392071.4_Missense_Mutation_p.V63I|EPHA4_ENST00000409938.1_Missense_Mutation_p.V114I	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	114	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GTCCCCATGACGCCCGGAAGA	0.453																																						uc002vmq.2																			0				lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	12						c.(340-342)GTC>ATC		ephrin receptor EphA4 precursor							128.0	124.0	125.0					2																	222428934		2203	4300	6503	SO:0001583	missense	2043					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr2:222428934C>T	L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3388	protein-coding gene	gene with protein product		602188	"""EphA4"""	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.340G>A	2.37:g.222428934C>T	ENSP00000281821:p.Val114Ile					EPHA4_uc002vmr.2_Missense_Mutation_p.V114I|EPHA4_uc010zlm.1_Missense_Mutation_p.V55I|EPHA4_uc010zln.1_Missense_Mutation_p.V114I	p.V114I	NM_004438	NP_004429	P54764	EPHA4_HUMAN		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)	3	382	-		Renal(207;0.0183)	114			Extracellular (Potential).		A8K2P1|B2R601|B7Z6Q8|Q2M380	Missense_Mutation	SNP	ENST00000281821.2	37	c.340G>A	CCDS2447.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.316897	0.60524	.	.	ENSG00000116106	ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071;ENST00000419964;ENST00000541600	T;T;T;T;T;T	0.03717	3.83;3.83;3.83;3.83;3.83;3.83	6.17	6.17	0.99709	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.054165	0.64402	D	0.000001	T	0.10852	0.0265	M	0.70275	2.135	0.80722	D	1	D	0.55385	0.971	P	0.46659	0.523	T	0.00872	-1.1532	10	0.41790	T	0.15	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	114	P54764	EPHA4_HUMAN	I	114;114;114;63;55;114	ENSP00000281821:V114I;ENSP00000386276:V114I;ENSP00000386829:V114I;ENSP00000375923:V63I;ENSP00000410158:V55I;ENSP00000444085:V114I	ENSP00000281821:V114I	V	-	1	0	EPHA4	222137178	1.000000	0.71417	0.968000	0.41197	0.167000	0.22549	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GTC		0.453	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3		
HAO1	54363	broad.mit.edu	37	20	7915230	7915230	+	Missense_Mutation	SNP	T	T	G			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr20:7915230T>G	ENST00000378789.3	-	2	241	c.190A>C	c.(190-192)Act>Cct	p.T64P		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	64	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				cellular nitrogen compound metabolic process (GO:0034641)|fatty acid alpha-oxidation (GO:0001561)|glycolate catabolic process (GO:0046296)|glyoxylate metabolic process (GO:0046487)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|glycolate oxidase activity (GO:0008891)|glyoxylate oxidase activity (GO:0047969)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AAAACAGAAGTCGACAGATCT	0.458																																						uc002wmw.1																			0				ovary(3)	3						c.(190-192)ACT>CCT		hydroxyacid oxidase 1							76.0	67.0	70.0					20																	7915230		2203	4300	6503	SO:0001583	missense	54363				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity	g.chr20:7915230T>G	AL021879	CCDS13100.1	20p12	2005-01-10			ENSG00000101323	ENSG00000101323	1.1.3.15		4809	protein-coding gene	gene with protein product		605023		GOX1		9891009	Standard	NM_017545		Approved	GOX	uc002wmw.1	Q9UJM8	OTTHUMG00000031841	ENST00000378789.3:c.190A>C	20.37:g.7915230T>G	ENSP00000368066:p.Thr64Pro					HAO1_uc010gbu.2_Missense_Mutation_p.T64P	p.T64P	NM_017545	NP_060015	Q9UJM8	HAOX1_HUMAN			2	214	-			64			FMN hydroxy acid dehydrogenase.		Q14CQ0|Q9UPZ0|Q9Y3I7	Missense_Mutation	SNP	ENST00000378789.3	37	c.190A>C	CCDS13100.1	.	.	.	.	.	.	.	.	.	.	T	19.09	3.760524	0.69763	.	.	ENSG00000101323	ENST00000378789	T	0.38560	1.13	5.87	4.77	0.60923	Aldolase-type TIM barrel (1);FMN-dependent dehydrogenase (1);	0.143969	0.64402	D	0.000005	T	0.73202	0.3557	H	0.96048	3.76	0.52099	D	0.99994	D;D	0.60575	0.988;0.988	D;D	0.77557	0.99;0.99	T	0.79533	-0.1764	10	0.87932	D	0	0.5862	10.7813	0.46379	0.0:0.075:0.0:0.925	.	64;64	A8K058;Q9UJM8	.;HAOX1_HUMAN	P	64	ENSP00000368066:T64P	ENSP00000368066:T64P	T	-	1	0	HAO1	7863230	0.992000	0.36948	0.982000	0.44146	0.899000	0.52679	2.329000	0.43876	1.059000	0.40554	0.533000	0.62120	ACT		0.458	HAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077926.2		
CSTF1	1477	broad.mit.edu	37	20	54978729	54978729	+	Silent	SNP	G	G	A			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr20:54978729G>A	ENST00000217109.4	+	6	1594	c.1242G>A	c.(1240-1242)acG>acA	p.T414T	CSTF1_ENST00000493039.1_3'UTR	NM_001033521.1|NM_001324.2	NP_001028693.1|NP_001315.1	Q05048	CSTF1_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa	414					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15			Colorectal(105;0.202)			GGTTCATGACGTGCAGCGATG	0.587																																						uc002xxl.1																			0				central_nervous_system(1)	1						c.(1240-1242)ACG>ACA		cleavage stimulation factor subunit 1							136.0	122.0	127.0					20																	54978729		2203	4300	6503	SO:0001819	synonymous_variant	1477				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding	g.chr20:54978729G>A		CCDS13452.1	20q13.31	2013-01-10	2002-08-29		ENSG00000101138	ENSG00000101138		"""WD repeat domain containing"""	2483	protein-coding gene	gene with protein product		600369	"""cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kD"""			1358884, 11257228	Standard	NM_001033521		Approved		uc002xxl.1	Q05048	OTTHUMG00000032791	ENST00000217109.4:c.1242G>A	20.37:g.54978729G>A						CSTF1_uc002xxm.1_Silent_p.T414T|CSTF1_uc002xxn.1_Silent_p.T414T|CSTF1_uc002xxo.1_Silent_p.T357T	p.T414T	NM_001033521	NP_001028693	Q05048	CSTF1_HUMAN	Colorectal(105;0.202)		6	1442	+			414			WD 6.		Q5QPD8	Silent	SNP	ENST00000217109.4	37	c.1242G>A	CCDS13452.1																																																																																				0.587	CSTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079794.2	NM_001033521	
COL6A2	1292	broad.mit.edu	37	21	47545941	47545941	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr21:47545941C>T	ENST00000300527.4	+	26	2316	c.2212C>T	c.(2212-2214)Cgg>Tgg	p.R738W	COL6A2_ENST00000409416.1_Missense_Mutation_p.R738W|COL6A2_ENST00000310645.5_Missense_Mutation_p.R738W|COL6A2_ENST00000397763.1_Missense_Mutation_p.R738W|COL6A2_ENST00000357838.4_Missense_Mutation_p.R738W	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	738	Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)		p.R738W(3)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CCACGACCCTCGGGACGATGA	0.622																																						uc002zia.1																			3	Substitution - Missense(3)		kidney(3)	central_nervous_system(7)|ovary(1)	8						c.(2212-2214)CGG>TGG		alpha 2 type VI collagen isoform 2C2 precursor							83.0	81.0	81.0					21																	47545941		2203	4300	6503	SO:0001583	missense	1292				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47545941C>T	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.2212C>T	21.37:g.47545941C>T	ENSP00000300527:p.Arg738Trp					COL6A2_uc002zhy.1_Missense_Mutation_p.R738W|COL6A2_uc002zhz.1_Missense_Mutation_p.R738W|COL6A2_uc002zib.1_Missense_Mutation_p.R144W|COL6A2_uc002zic.1_5'Flank	p.R738W	NM_001849	NP_001840	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	26	2294	+	Breast(49;0.245)		738			VWFA 2.|Nonhelical region.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	c.2212C>T	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.417810	0.42918	.	.	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000409416;ENST00000397763	T;T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18;-1.18	4.05	4.05	0.47172	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.88533	0.6462	M	0.83384	2.64	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.90778	0.4677	10	0.72032	D	0.01	-13.324	16.2114	0.82164	0.0:1.0:0.0:0.0	.	738;738;738	P12110;P12110-2;P12110-3	CO6A2_HUMAN;.;.	W	738	ENSP00000300527:R738W;ENSP00000350497:R738W;ENSP00000312529:R738W;ENSP00000387115:R738W;ENSP00000380870:R738W	ENSP00000300527:R738W	R	+	1	2	COL6A2	46370369	0.998000	0.40836	0.100000	0.21137	0.479000	0.33129	3.914000	0.56401	1.808000	0.52836	0.491000	0.48974	CGG		0.622	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1		
RPL32	6161	broad.mit.edu	37	3	12881707	12881707	+	Silent	SNP	G	G	A	rs144517633		TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr3:12881707G>A	ENST00000429711.2	-	2	129	c.30C>T	c.(28-30)ccC>ccT	p.P10P	RPL32_ENST00000396953.2_Silent_p.P10P|RPL32_ENST00000435983.1_Silent_p.P10P|RPL32_ENST00000396957.1_Silent_p.P10P|SNORA7A_ENST00000384765.1_RNA|RPL32_ENST00000273223.6_Silent_p.P10P	NM_000994.3	NP_000985.1	P62910	RL32_HUMAN	ribosomal protein L32	10					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						TGACGATCTTGGGCTTCACAA	0.537																																						uc003bxl.2																			0				ovary(1)	1						c.(28-30)CCC>CCT		ribosomal protein L32		G	,,	1,4405	2.1+/-5.4	0,1,2202	140.0	157.0	151.0		30,30,30	3.3	1.0	3	dbSNP_134	151	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	RPL32	NM_000994.3,NM_001007073.1,NM_001007074.1	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	10/136,10/136,10/136	12881707	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6161				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome	g.chr3:12881707G>A	CA436299, CF124158, CR608027	CCDS2614.1	3q13.3-q21	2011-04-06			ENSG00000144713	ENSG00000144713		"""L ribosomal proteins"""	10336	protein-coding gene	gene with protein product						9284913	Standard	NM_001007073		Approved	L32	uc003bxl.3	P62910	OTTHUMG00000129804	ENST00000429711.2:c.30C>T	3.37:g.12881707G>A						RPL32_uc003bxm.2_Silent_p.P10P|RPL32_uc003bxn.2_Silent_p.P10P	p.P10P	NM_001007074	NP_001007075	P62910	RL32_HUMAN			1	243	-			10					B2R4Q3|P02433	Silent	SNP	ENST00000429711.2	37	c.30C>T	CCDS2614.1																																																																																				0.537	RPL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252032.2	NM_000994	
CELSR3	1951	broad.mit.edu	37	3	48697393	48697393	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr3:48697393C>T	ENST00000164024.4	-	1	2955	c.2675G>A	c.(2674-2676)cGt>cAt	p.R892H	CELSR3_ENST00000544264.1_Missense_Mutation_p.R892H	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	892	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ATAGGTGATACGAGCATTCTC	0.517																																						uc003cul.2																			0				ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11						c.(2674-2676)CGT>CAT		cadherin EGF LAG seven-pass G-type receptor 3							106.0	92.0	97.0					3																	48697393		2203	4300	6503	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48697393C>T	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.2675G>A	3.37:g.48697393C>T	ENSP00000164024:p.Arg892His					CELSR3_uc003cuf.1_Missense_Mutation_p.R962H	p.R892H	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	1	2956	-			892			Extracellular (Potential).|Cadherin 6.		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.2675G>A	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.230138	0.79688	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.54479	0.57;0.57	5.67	5.67	0.87782	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.72277	0.3440	M	0.62088	1.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	T	0.73616	-0.3926	9	0.87932	D	0	.	19.7626	0.96329	0.0:1.0:0.0:0.0	.	892;962	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	H	892	ENSP00000164024:R892H;ENSP00000445694:R892H	ENSP00000164024:R892H	R	-	2	0	CELSR3	48672397	1.000000	0.71417	0.939000	0.37840	0.958000	0.62258	5.920000	0.70017	2.676000	0.91093	0.561000	0.74099	CGT		0.517	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407	
MYH15	22989	broad.mit.edu	37	3	108189636	108189636	+	Missense_Mutation	SNP	A	A	G			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr3:108189636A>G	ENST00000273353.3	-	14	1408	c.1352T>C	c.(1351-1353)cTa>cCa	p.L451P		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	451	Myosin motor.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CCGTGCCACTAGCCACTTAAA	0.458																																						uc003dxa.1																			0				ovary(5)|central_nervous_system(2)	7						c.(1351-1353)CTA>CCA		myosin, heavy polypeptide 15							100.0	92.0	94.0					3																	108189636		1994	4161	6155	SO:0001583	missense	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108189636A>G	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.1352T>C	3.37:g.108189636A>G	ENSP00000273353:p.Leu451Pro						p.L451P	NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN			14	1409	-			451			Myosin head-like.			Missense_Mutation	SNP	ENST00000273353.3	37	c.1352T>C	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.235467	0.79800	.	.	ENSG00000144821	ENST00000273353	D	0.90004	-2.6	5.77	4.59	0.56863	Myosin head, motor domain (2);	.	.	.	.	D	0.96965	0.9009	H	0.99425	4.56	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97297	0.9928	9	0.87932	D	0	.	12.8976	0.58108	0.8641:0.1359:0.0:0.0	.	451	Q9Y2K3	MYH15_HUMAN	P	451	ENSP00000273353:L451P	ENSP00000273353:L451P	L	-	2	0	MYH15	109672326	1.000000	0.71417	0.991000	0.47740	0.989000	0.77384	6.078000	0.71282	0.970000	0.38263	0.528000	0.53228	CTA		0.458	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988	
PHLDB2	90102	broad.mit.edu	37	3	111604066	111604066	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr3:111604066G>A	ENST00000431670.2	+	2	1553	c.1142G>A	c.(1141-1143)aGg>aAg	p.R381K	PHLDB2_ENST00000481953.1_Missense_Mutation_p.R381K|PHLDB2_ENST00000478922.1_Missense_Mutation_p.R381K|PHLDB2_ENST00000412622.1_Missense_Mutation_p.R381K|PHLDB2_ENST00000393923.3_Missense_Mutation_p.R408K|PHLDB2_ENST00000477695.1_Missense_Mutation_p.R381K|PHLDB2_ENST00000393925.3_Missense_Mutation_p.R381K	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	381						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GCGACCAGGAGGAACTTCTCT	0.517																																						uc010hqa.2																			0				ovary(4)|skin(2)	6						c.(1141-1143)AGG>AAG		pleckstrin homology-like domain, family B,							85.0	85.0	85.0					3																	111604066		2203	4300	6503	SO:0001583	missense	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111604066G>A		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.1142G>A	3.37:g.111604066G>A	ENSP00000405405:p.Arg381Lys					PHLDB2_uc003dyc.2_Missense_Mutation_p.R408K|PHLDB2_uc003dyd.2_Missense_Mutation_p.R381K|PHLDB2_uc003dyg.2_Missense_Mutation_p.R381K|PHLDB2_uc003dyh.2_Missense_Mutation_p.R381K|PHLDB2_uc003dye.3_Missense_Mutation_p.R381K|PHLDB2_uc003dyf.3_Missense_Mutation_p.R381K	p.R381K	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN			2	1553	+			381					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	ENST00000431670.2	37	c.1142G>A	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.971428	0.74246	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000478922;ENST00000477695;ENST00000393925;ENST00000481953	T;T;T;T;T;T	0.35048	1.33;1.38;1.34;1.35;1.38;1.34	5.78	5.78	0.91487	.	0.090924	0.85682	D	0.000000	T	0.46190	0.1380	L	0.31420	0.93	0.44036	D	0.996768	D;D;D;D;D	0.71674	0.965;0.998;0.998;0.99;0.99	B;D;D;P;P	0.77557	0.437;0.99;0.99;0.789;0.789	T	0.09907	-1.0653	10	0.11485	T	0.65	.	17.2809	0.87128	0.0:0.0:1.0:0.0	.	381;381;381;381;408	Q86SQ0;G5E9V3;E9PDY7;Q86SQ0-2;Q86SQ0-3	PHLB2_HUMAN;.;.;.;.	K	408;408;381;381;381;381;381;381;381	ENSP00000377500:R408K;ENSP00000405405:R381K;ENSP00000405292:R381K;ENSP00000418296:R381K;ENSP00000377502:R381K;ENSP00000418319:R381K	ENSP00000352764:R408K	R	+	2	0	PHLDB2	113086756	1.000000	0.71417	1.000000	0.80357	0.643000	0.38383	6.369000	0.73109	2.894000	0.99253	0.655000	0.94253	AGG		0.517	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753	
EPHB1	2047	broad.mit.edu	37	3	134920351	134920351	+	Silent	SNP	G	G	T			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr3:134920351G>T	ENST00000398015.3	+	12	2536	c.2166G>T	c.(2164-2166)gtG>gtT	p.V722V	EPHB1_ENST00000493838.1_Silent_p.V283V	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	722	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TCCAGCTTGTGGGTATGCTCA	0.507																																						uc003eqt.2																			0				lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						c.(2164-2166)GTG>GTT		ephrin receptor EphB1 precursor							222.0	221.0	221.0					3																	134920351		2203	4300	6503	SO:0001819	synonymous_variant	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134920351G>T	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.2166G>T	3.37:g.134920351G>T						EPHB1_uc003equ.2_Silent_p.V283V	p.V722V	NM_004441	NP_004432	P54762	EPHB1_HUMAN			12	2386	+			722			Cytoplasmic (Potential).|Protein kinase.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Silent	SNP	ENST00000398015.3	37	c.2166G>T	CCDS46921.1																																																																																				0.507	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441	
PRR23C	389152	broad.mit.edu	37	3	138763141	138763141	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr3:138763141C>T	ENST00000413199.1	-	1	593	c.322G>A	c.(322-324)Gtc>Atc	p.V108I	MRPS22_ENST00000495075.1_Intron|PRR23C_ENST00000502927.2_Missense_Mutation_p.V108I	NM_001134657.1	NP_001128129.1	Q6ZRP0	PR23C_HUMAN	proline rich 23C	108										breast(2)|lung(7)|skin(2)	11						CATTCGTCGACGGAGCTCAGG	0.642																																						uc011bmt.1																			0				skin(1)	1						c.(322-324)GTC>ATC		proline rich 23C							30.0	31.0	31.0					3																	138763141		692	1591	2283	SO:0001583	missense	389152							g.chr3:138763141C>T		CCDS46924.1	3q22.3	2014-06-03				ENSG00000233701			37173	protein-coding gene	gene with protein product							Standard	NM_001134657		Approved	FLJ46210	uc011bmt.1	Q6ZRP0		ENST00000413199.1:c.322G>A	3.37:g.138763141C>T	ENSP00000396648:p.Val108Ile						p.V108I	NM_001134657	NP_001128129	Q6ZRP0	PR23C_HUMAN			1	594	-			108						Missense_Mutation	SNP	ENST00000413199.1	37	c.322G>A	CCDS46924.1	.	.	.	.	.	.	.	.	.	.	C	8.173	0.792077	0.16258	.	.	ENSG00000233701	ENST00000413199;ENST00000502927	.	.	.	2.87	-0.651	0.11454	.	3.370080	0.02661	U	0.107497	T	0.27594	0.0678	L	0.51422	1.61	0.09310	N	1	P	0.42973	0.796	B	0.34991	0.193	T	0.19063	-1.0317	9	0.34782	T	0.22	.	3.1267	0.06409	0.0:0.4306:0.2195:0.3498	.	108	Q6ZRP0	PR23C_HUMAN	I	108	.	ENSP00000396648:V108I	V	-	1	0	PRR23C	140245831	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.495000	0.06443	-0.145000	0.11294	-0.834000	0.03071	GTC		0.642	PRR23C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361502.1	NM_001134657	
MBNL1	4154	broad.mit.edu	37	3	152018056	152018056	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr3:152018056G>A	ENST00000463374.1	+	1	585	c.74G>A	c.(73-75)gGg>gAg	p.G25E	MBNL1_ENST00000282488.7_Missense_Mutation_p.G25E|MBNL1_ENST00000493459.1_Intron|MBNL1_ENST00000355460.2_Missense_Mutation_p.G25E|MBNL1_ENST00000492948.1_Missense_Mutation_p.G25E|MBNL1_ENST00000485910.1_Missense_Mutation_p.G25E|MBNL1_ENST00000324196.5_Missense_Mutation_p.G25E|MBNL1_ENST00000324210.5_Missense_Mutation_p.G25E|MBNL1_ENST00000545754.1_Missense_Mutation_p.G25E|MBNL1_ENST00000485509.1_Missense_Mutation_p.G25E|MBNL1_ENST00000498502.1_Missense_Mutation_p.G25E|MBNL1_ENST00000282486.6_Missense_Mutation_p.G25E|MBNL1_ENST00000357472.3_Missense_Mutation_p.G25E|MBNL1_ENST00000461436.1_3'UTR	NM_207293.1	NP_997176.1	Q9NR56	MBNL1_HUMAN	muscleblind-like splicing regulator 1	25					alternative mRNA splicing, via spliceosome (GO:0000380)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|mRNA splice site selection (GO:0006376)|myoblast differentiation (GO:0045445)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|skeletal muscle tissue development (GO:0007519)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TTCCAGAGGGGGACTTGCTCA	0.428																																						uc003ezm.2																			0				ovary(1)	1						c.(73-75)GGG>GAG		muscleblind-like 1 isoform c							107.0	102.0	104.0					3																	152018056		2203	4300	6503	SO:0001583	missense	4154				embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding	g.chr3:152018056G>A	Y13829	CCDS3163.1, CCDS3164.1, CCDS3165.1, CCDS3166.1, CCDS3167.1, CCDS3168.1, CCDS54656.1	3q25	2013-01-18	2012-02-23	2003-03-14	ENSG00000152601	ENSG00000152601		"""Zinc fingers, CCCH-type domain containing"""	6923	protein-coding gene	gene with protein product		606516	"""muscleblind (Drosophila)-like"", ""muscleblind-like (Drosophila)"""	MBNL			Standard	NM_021038		Approved	KIAA0428, EXP42, EXP40, EXP35, EXP	uc003ezm.3	Q9NR56	OTTHUMG00000159163	ENST00000463374.1:c.74G>A	3.37:g.152018056G>A	ENSP00000418108:p.Gly25Glu					MBNL1_uc003ezh.2_Missense_Mutation_p.G25E|MBNL1_uc003ezi.2_Missense_Mutation_p.G25E|MBNL1_uc003ezj.2_Intron|MBNL1_uc003ezl.2_Missense_Mutation_p.G25E|MBNL1_uc003ezp.2_Missense_Mutation_p.G25E|MBNL1_uc003ezn.2_Missense_Mutation_p.G25E|MBNL1_uc003ezo.2_Missense_Mutation_p.G25E|MBNL1_uc003ezg.1_RNA|MBNL1_uc003ezk.1_RNA	p.G25E	NM_207293	NP_997176	Q9NR56	MBNL1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		1	863	+			25			C3H1-type 1.		E9PBW7|O43311|O43797|Q86UV8|Q86UV9|Q96P92|Q96RE3	Missense_Mutation	SNP	ENST00000463374.1	37	c.74G>A	CCDS3165.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.75|19.75	3.884843|3.884843	0.72410|0.72410	.|.	.|.	ENSG00000152601|ENSG00000152601	ENST00000282486;ENST00000282488;ENST00000355460;ENST00000324210;ENST00000498502;ENST00000324196;ENST00000545754;ENST00000357472;ENST00000485910;ENST00000463374;ENST00000465907;ENST00000492948;ENST00000485509|ENST00000464596	T;T;T;T;T;T;T;T;T;T;T;T;T|T	0.69435|0.69561	-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4|-0.41	5.43|5.43	5.43|5.43	0.79202|0.79202	Zinc finger, CCCH-type (2);|.	0.052436|0.052436	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.87148|0.87148	0.6105|0.6105	M|M	0.93462|0.93462	3.42|3.42	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D|.	0.89917|.	0.999;1.0;1.0;0.996;0.996;0.998;0.996|.	D;D;D;D;D;D;D|.	0.97110|.	0.978;1.0;1.0;0.969;0.931;0.987;0.953|.	D|D	0.90235|0.90235	0.4282|0.4282	10|8	0.87932|0.87932	D|D	0|0	.|.	19.297|19.297	0.94126|0.94126	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	25;25;25;25;25;25;25|.	E9PBW7;Q9NR56-3;Q96RE3;Q9NR56;Q86UV8;Q9NR56-2;Q96P92|.	.;.;.;MBNL1_HUMAN;.;.;.|.	E|R	25|24	ENSP00000282486:G25E;ENSP00000282488:G25E;ENSP00000347637:G25E;ENSP00000319429:G25E;ENSP00000420327:G25E;ENSP00000319374:G25E;ENSP00000437491:G25E;ENSP00000350064:G25E;ENSP00000418427:G25E;ENSP00000418108:G25E;ENSP00000417630:G25E;ENSP00000420103:G25E;ENSP00000418876:G25E|ENSP00000418109:G24R	ENSP00000282486:G25E|ENSP00000418109:G24R	G|G	+|+	2|1	0|0	MBNL1|MBNL1	153500746|153500746	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.662000|9.662000	0.98603|0.98603	2.561000|2.561000	0.86390|0.86390	0.586000|0.586000	0.80456|0.80456	GGG|GGA		0.428	MBNL1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353604.1	NM_021038	
MBNL1	4154	broad.mit.edu	37	3	152132751	152132751	+	Missense_Mutation	SNP	T	T	A			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr3:152132751T>A	ENST00000463374.1	+	2	707	c.196T>A	c.(196-198)Tgc>Agc	p.C66S	MBNL1_ENST00000282488.7_Missense_Mutation_p.C66S|MBNL1_ENST00000493459.1_Missense_Mutation_p.C9S|MBNL1_ENST00000355460.2_Missense_Mutation_p.C66S|MBNL1_ENST00000492948.1_Missense_Mutation_p.C66S|MBNL1_ENST00000485910.1_Missense_Mutation_p.C66S|MBNL1_ENST00000324196.5_Missense_Mutation_p.C66S|MBNL1_ENST00000324210.5_Missense_Mutation_p.C66S|MBNL1_ENST00000545754.1_Missense_Mutation_p.C66S|MBNL1_ENST00000485509.1_Missense_Mutation_p.C66S|MBNL1_ENST00000498502.1_Missense_Mutation_p.C66S|MBNL1_ENST00000282486.6_Missense_Mutation_p.C66S|MBNL1_ENST00000357472.3_Missense_Mutation_p.C66S	NM_207293.1	NP_997176.1	Q9NR56	MBNL1_HUMAN	muscleblind-like splicing regulator 1	66					alternative mRNA splicing, via spliceosome (GO:0000380)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|mRNA splice site selection (GO:0006376)|myoblast differentiation (GO:0045445)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|skeletal muscle tissue development (GO:0007519)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CAGGGAGAACTGCAAATATCT	0.393																																						uc003ezm.2																			0				ovary(1)	1						c.(196-198)TGC>AGC		muscleblind-like 1 isoform c							111.0	106.0	108.0					3																	152132751		2203	4300	6503	SO:0001583	missense	4154				embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding	g.chr3:152132751T>A	Y13829	CCDS3163.1, CCDS3164.1, CCDS3165.1, CCDS3166.1, CCDS3167.1, CCDS3168.1, CCDS54656.1	3q25	2013-01-18	2012-02-23	2003-03-14	ENSG00000152601	ENSG00000152601		"""Zinc fingers, CCCH-type domain containing"""	6923	protein-coding gene	gene with protein product		606516	"""muscleblind (Drosophila)-like"", ""muscleblind-like (Drosophila)"""	MBNL			Standard	NM_021038		Approved	KIAA0428, EXP42, EXP40, EXP35, EXP	uc003ezm.3	Q9NR56	OTTHUMG00000159163	ENST00000463374.1:c.196T>A	3.37:g.152132751T>A	ENSP00000418108:p.Cys66Ser					MBNL1_uc003ezh.2_Missense_Mutation_p.C66S|MBNL1_uc003ezi.2_Missense_Mutation_p.C66S|MBNL1_uc003ezj.2_Missense_Mutation_p.C9S|MBNL1_uc003ezl.2_Missense_Mutation_p.C66S|MBNL1_uc003ezp.2_Missense_Mutation_p.C66S|MBNL1_uc003ezn.2_Missense_Mutation_p.C66S|MBNL1_uc003ezo.2_Missense_Mutation_p.C66S|MBNL1_uc010hvp.2_5'UTR	p.C66S	NM_207293	NP_997176	Q9NR56	MBNL1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		2	985	+			66			C3H1-type 2.		E9PBW7|O43311|O43797|Q86UV8|Q86UV9|Q96P92|Q96RE3	Missense_Mutation	SNP	ENST00000463374.1	37	c.196T>A	CCDS3165.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.251015	0.80135	.	.	ENSG00000152601	ENST00000282486;ENST00000282488;ENST00000355460;ENST00000493459;ENST00000324210;ENST00000459747;ENST00000498502;ENST00000324196;ENST00000545754;ENST00000357472;ENST00000485910;ENST00000463374;ENST00000465907;ENST00000492948;ENST00000485509	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7	5.8	5.8	0.92144	Zinc finger, CCCH-type (2);	0.000000	0.85682	D	0.000000	T	0.77844	0.4191	H	0.94264	3.515	0.80722	D	1	D;B;B;D;D;P;D;D	0.89917	1.0;0.265;0.265;0.957;1.0;0.928;1.0;1.0	D;B;B;D;D;P;D;D	0.91635	0.98;0.236;0.236;0.913;0.999;0.806;0.999;0.999	D	0.84536	0.0636	10	0.87932	D	0	.	16.1606	0.81704	0.0:0.0:0.0:1.0	.	66;66;66;66;66;9;66;66	E9PBW7;Q9NR56-3;Q96RE3;Q9NR56;Q86UV8;Q86VM6;Q9NR56-2;Q96P92	.;.;.;MBNL1_HUMAN;.;.;.;.	S	66;66;66;9;66;10;66;66;66;66;66;66;66;66;66	ENSP00000282486:C66S;ENSP00000282488:C66S;ENSP00000347637:C66S;ENSP00000419347:C9S;ENSP00000319429:C66S;ENSP00000417169:C10S;ENSP00000420327:C66S;ENSP00000319374:C66S;ENSP00000437491:C66S;ENSP00000350064:C66S;ENSP00000418427:C66S;ENSP00000418108:C66S;ENSP00000417630:C66S;ENSP00000420103:C66S;ENSP00000418876:C66S	ENSP00000282486:C66S	C	+	1	0	MBNL1	153615441	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.930000	0.87610	2.227000	0.72691	0.460000	0.39030	TGC		0.393	MBNL1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353604.1	NM_021038	
ALG3	10195	broad.mit.edu	37	3	183960423	183960423	+	Missense_Mutation	SNP	T	T	G			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr3:183960423T>G	ENST00000397676.3	-	9	1226	c.1196A>C	c.(1195-1197)tAc>tCc	p.Y399S	EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000455059.1_Missense_Mutation_p.Y359S|ALG3_ENST00000463495.1_5'Flank|ALG3_ENST00000418734.2_Missense_Mutation_p.Y343S|ALG3_ENST00000445626.2_Missense_Mutation_p.Y351S|MIR1224_ENST00000408193.1_RNA	NM_005787.5	NP_005778.1	Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	399					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-1,3-mannosyltransferase activity (GO:0000033)|dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activity (GO:0052925)			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGTGGAAGGGTATGTGTTCCA	0.587																																						uc003fne.2																			0					0						c.(1195-1197)TAC>TCC		alpha-1,3-mannosyltransferase ALG3 isoform a							59.0	64.0	63.0					3																	183960423		2073	4221	6294	SO:0001583	missense	10195				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity	g.chr3:183960423T>G	BC002839	CCDS46967.1, CCDS46968.1	3q27.3	2013-02-26	2013-02-26		ENSG00000214160	ENSG00000214160	2.4.1.258	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	23056	protein-coding gene	gene with protein product	"""carbohydrate deficient glycoprotein syndrome type IV"", ""dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase"", ""dol-P-Man dependent alpha-1,3- mannosyltransferase"""	608750	"""asparagine-linked glycosylation 3 homolog (yeast, alpha-1,3-mannosyltransferase)"", ""asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae)"""			1058125	Standard	NM_005787		Approved	NOT56L, Not56, CDGS4, D16Ertd36e	uc003fne.2	Q92685	OTTHUMG00000156823	ENST00000397676.3:c.1196A>C	3.37:g.183960423T>G	ENSP00000380793:p.Tyr399Ser					ALG3_uc011brc.1_Missense_Mutation_p.Y364S|ALG3_uc011brd.1_Missense_Mutation_p.Y343S|ALG3_uc011bre.1_Missense_Mutation_p.Y351S	p.Y399S	NM_005787	NP_005778	Q92685	ALG3_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		9	1227	-	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		399					A8JZZ6|Q9BT71	Missense_Mutation	SNP	ENST00000397676.3	37	c.1196A>C	CCDS46968.1	.	.	.	.	.	.	.	.	.	.	T	18.75	3.690069	0.68271	.	.	ENSG00000214160	ENST00000418734;ENST00000397676;ENST00000445626;ENST00000455059	D;D;D;D	0.90324	-2.65;-2.65;-2.65;-2.65	5.62	5.62	0.85841	.	0.076131	0.56097	U	0.000039	D	0.96018	0.8703	M	0.93420	3.415	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.78314	0.955;0.991;0.991;0.991	D	0.96424	0.9314	10	0.72032	D	0.01	-14.634	10.2738	0.43497	0.1473:0.0:0.0:0.8527	.	351;343;359;399	A8JZZ6;B4DS50;C9J7S5;Q92685	.;.;.;ALG3_HUMAN	S	343;399;351;359	ENSP00000402976:Y343S;ENSP00000380793:Y399S;ENSP00000402744:Y351S;ENSP00000397613:Y359S	ENSP00000380793:Y399S	Y	-	2	0	ALG3	185443117	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.116000	0.71571	2.137000	0.66172	0.379000	0.24179	TAC		0.587	ALG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346033.1	NM_005787	
FRAS1	80144	broad.mit.edu	37	4	79400664	79400664	+	Silent	SNP	G	G	A			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr4:79400664G>A	ENST00000264895.6	+	56	8675	c.8235G>A	c.(8233-8235)ggG>ggA	p.G2745G		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2741	Calx-beta 2.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGATATTCGGGCCTGGTGTGA	0.483																																						uc003hlb.2																			0				large_intestine(5)	5						c.(8233-8235)GGG>GGA		Fraser syndrome 1							111.0	110.0	110.0					4																	79400664		2109	4228	6337	SO:0001819	synonymous_variant	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79400664G>A	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.8235G>A	4.37:g.79400664G>A							p.G2745G	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			56	8675	+			2740			Extracellular (Potential).|Calx-beta 2.		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000264895.6	37	c.8235G>A	CCDS54771.1	.	.	.	.	.	.	.	.	.	.	G	0.064	-1.217926	0.01542	.	.	ENSG00000138759	ENST00000512123	.	.	.	5.72	0.715	0.18186	.	.	.	.	.	T	0.43545	0.1252	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21690	-1.0238	4	.	.	.	.	2.8996	0.05701	0.314:0.1091:0.4657:0.1112	.	.	.	.	T	974	.	.	A	+	1	0	FRAS1	79619688	0.526000	0.26298	0.952000	0.39060	0.009000	0.06853	-0.388000	0.07352	0.101000	0.17610	0.644000	0.83932	GCC		0.483	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
ENPEP	2028	broad.mit.edu	37	4	111474494	111474494	+	Missense_Mutation	SNP	C	C	T	rs200338472		TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr4:111474494C>T	ENST00000265162.5	+	18	2867	c.2525C>T	c.(2524-2526)aCg>aTg	p.T842M		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	842					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		CTCAAGGACACGAACCTTATT	0.353																																						uc003iab.3																			0				skin(3)|ovary(1)|breast(1)	5						c.(2524-2526)ACG>ATG		glutamyl aminopeptidase	L-Glutamic Acid(DB00142)						179.0	176.0	177.0					4																	111474494		2203	4300	6503	SO:0001583	missense	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111474494C>T	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.2525C>T	4.37:g.111474494C>T	ENSP00000265162:p.Thr842Met						p.T842M	NM_001977	NP_001968	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	18	2867	+		Hepatocellular(203;0.217)	842			Extracellular (Potential).		Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	c.2525C>T	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	C	19.87	3.906547	0.72868	.	.	ENSG00000138792	ENST00000265162	T	0.05580	3.42	5.4	5.4	0.78164	.	0.673920	0.16064	N	0.231330	T	0.20577	0.0495	L	0.55481	1.735	0.09310	N	0.999997	D	0.76494	0.999	P	0.60886	0.88	T	0.02015	-1.1229	10	0.54805	T	0.06	.	19.1712	0.93578	0.0:1.0:0.0:0.0	.	842	Q07075	AMPE_HUMAN	M	842	ENSP00000265162:T842M	ENSP00000265162:T842M	T	+	2	0	ENPEP	111693943	0.980000	0.34600	0.044000	0.18714	0.978000	0.69477	5.916000	0.69981	2.524000	0.85096	0.650000	0.86243	ACG		0.353	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2		
NR3C2	4306	broad.mit.edu	37	4	149357361	149357361	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr4:149357361C>T	ENST00000358102.3	-	2	1014	c.652G>A	c.(652-654)Gcc>Acc	p.A218T	NR3C2_ENST00000511528.1_Missense_Mutation_p.A218T|NR3C2_ENST00000512865.1_Missense_Mutation_p.A218T|NR3C2_ENST00000344721.4_Missense_Mutation_p.A218T|NR3C2_ENST00000355292.3_Missense_Mutation_p.A218T	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	218	Modulating.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	CCAAAGCTGGCTGTGGTGGAG	0.532																																					Melanoma(27;428 957 40335 51025 51111)	uc003ilj.3																			0				large_intestine(1)	1						c.(652-654)GCC>ACC		nuclear receptor subfamily 3, group C, member 2	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)						53.0	55.0	54.0					4																	149357361		2203	4300	6503	SO:0001583	missense	4306				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr4:149357361C>T	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"""Nuclear hormone receptors"""	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.652G>A	4.37:g.149357361C>T	ENSP00000350815:p.Ala218Thr					NR3C2_uc003ilk.3_Missense_Mutation_p.A218T|NR3C2_uc010iph.2_RNA	p.A218T	NM_000901	NP_000892	P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	2	986	-	all_hematologic(180;0.151)		218			Modulating.		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Missense_Mutation	SNP	ENST00000358102.3	37	c.652G>A	CCDS3772.1	.	.	.	.	.	.	.	.	.	.	C	7.012	0.556993	0.13436	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000512865;ENST00000544252;ENST00000342437;ENST00000511528	D;D;D;D;D;D	0.91068	-2.78;-2.78;-2.78;-2.35;-2.35;-2.78	5.13	1.43	0.22495	.	0.518629	0.23189	N	0.050939	T	0.78181	0.4243	N	0.12182	0.205	0.22401	N	0.999139	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.61431	-0.7064	9	.	.	.	.	8.7142	0.34401	0.0:0.6248:0.0:0.3752	.	218;218	B0ZBF5;B0ZBF6	.;.	T	218	ENSP00000341390:A218T;ENSP00000347441:A218T;ENSP00000350815:A218T;ENSP00000423510:A218T;ENSP00000343907:A218T;ENSP00000421481:A218T	.	A	-	1	0	NR3C2	149576811	0.640000	0.27243	0.097000	0.21041	0.984000	0.73092	0.761000	0.26489	0.016000	0.14998	0.591000	0.81541	GCC		0.532	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1		
SOX30	11063	broad.mit.edu	37	5	157078493	157078493	+	Silent	SNP	G	G	A	rs371262922		TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr5:157078493G>A	ENST00000265007.6	-	1	935	c.594C>T	c.(592-594)ggC>ggT	p.G198G	SOX30_ENST00000519442.1_Intron|SOX30_ENST00000311371.5_Silent_p.G198G	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	198					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to corticosteroid (GO:0031960)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGCCTGCCCCGCCTTGCATCG	0.657																																					Esophageal Squamous(31;525 799 19355 21125 41744)	uc003lxb.1																			0				ovary(1)|central_nervous_system(1)	2						c.(592-594)GGC>GGT		SRY (sex determining region Y)-box 30 isoform a							64.0	75.0	71.0					5																	157078493		2197	4289	6486	SO:0001819	synonymous_variant	11063				regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus|nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr5:157078493G>A	AB022083	CCDS4339.1, CCDS4340.1	5q33	2010-10-21			ENSG00000039600	ENSG00000039600		"""SRY (sex determining region Y)-boxes"""	30635	protein-coding gene	gene with protein product		606698				15019997, 11678506	Standard	NM_178424		Approved		uc003lxb.1	O94993	OTTHUMG00000130247	ENST00000265007.6:c.594C>T	5.37:g.157078493G>A						SOX30_uc003lxc.1_Silent_p.G198G|SOX30_uc011dds.1_Intron	p.G198G	NM_178424	NP_848511	O94993	SOX30_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		1	936	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	198					O94995|Q8IYX6	Silent	SNP	ENST00000265007.6	37	c.594C>T	CCDS4339.1																																																																																				0.657	SOX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252571.2	NM_007017	
DDR1	780	broad.mit.edu	37	6	30861171	30861171	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr6:30861171C>T	ENST00000324771.8	+	12	1866	c.1318C>T	c.(1318-1320)Cgg>Tgg	p.R440W	DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000418800.2_Missense_Mutation_p.R440W|MIR4640_ENST00000581824.1_RNA|DDR1_ENST00000376567.2_Missense_Mutation_p.R440W|DDR1_ENST00000376570.4_Missense_Mutation_p.R440W|DDR1_ENST00000361741.4_Missense_Mutation_p.R171W|DDR1_ENST00000513240.1_Missense_Mutation_p.R440W|DDR1_ENST00000452441.1_Missense_Mutation_p.R440W|DDR1_ENST00000376575.3_Missense_Mutation_p.R440W|DDR1_ENST00000376568.3_Missense_Mutation_p.R440W|DDR1_ENST00000376569.3_Missense_Mutation_p.R440W|DDR1_ENST00000454612.2_Missense_Mutation_p.R440W|DDR1_ENST00000508312.1_Missense_Mutation_p.R458W			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	440					branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CATGCTCTGGCGGCTGCACTG	0.697																																						uc003nrr.2																			0				lung(4)|central_nervous_system(3)|large_intestine(1)|ovary(1)	9						c.(1318-1320)CGG>TGG		discoidin domain receptor family, member 1	Imatinib(DB00619)						43.0	32.0	36.0					6																	30861171		2203	4300	6503	SO:0001583	missense	780				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:30861171C>T	X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"""CD molecules"""	2730	protein-coding gene	gene with protein product		600408	"""discoidin domain receptor family, member 1"""	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.1318C>T	6.37:g.30861171C>T	ENSP00000318217:p.Arg440Trp					DDR1_uc010jse.2_Missense_Mutation_p.R440W|DDR1_uc003nrq.2_Missense_Mutation_p.R440W|DDR1_uc003nrs.2_Missense_Mutation_p.R440W|DDR1_uc003nrt.2_Missense_Mutation_p.R440W|DDR1_uc011dms.1_Missense_Mutation_p.R458W|DDR1_uc003nru.2_Missense_Mutation_p.R440W|DDR1_uc003nrv.2_Missense_Mutation_p.R440W|DDR1_uc003nrw.1_Missense_Mutation_p.R239W|DDR1_uc003nry.1_RNA|DDR1_uc003nrx.1_RNA	p.R440W	NM_013993	NP_054699	Q08345	DDR1_HUMAN			11	1577	+			440			Helical; (Potential).		B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Missense_Mutation	SNP	ENST00000324771.8	37	c.1318C>T	CCDS34385.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.054937	0.75960	.	.	ENSG00000204580	ENST00000324771;ENST00000418800;ENST00000454612;ENST00000376569;ENST00000376575;ENST00000376570;ENST00000376568;ENST00000452441;ENST00000508312;ENST00000376567;ENST00000513240;ENST00000417521;ENST00000361741;ENST00000451954	T;T;T;T;T;T;T;T;T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13	5.39	0.776	0.18532	.	0.000000	0.85682	D	0.000000	T	0.78509	0.4294	L	0.52011	1.625	0.46678	D	0.999153	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.984;0.972;0.999;0.998	T	0.80476	-0.1366	10	0.87932	D	0	.	13.3602	0.60652	0.7462:0.2538:0.0:0.0	.	458;236;440;440	B7Z2K0;A2ABM8;Q08345-5;Q08345	.;.;.;DDR1_HUMAN	W	440;440;440;440;440;440;440;440;458;440;440;236;171;123	ENSP00000318217:R440W;ENSP00000407699:R440W;ENSP00000406091:R440W;ENSP00000365753:R440W;ENSP00000365759:R440W;ENSP00000365754:R440W;ENSP00000365752:R440W;ENSP00000405039:R440W;ENSP00000422442:R458W;ENSP00000365751:R440W;ENSP00000427552:R440W;ENSP00000398682:R236W;ENSP00000354844:R171W	ENSP00000318217:R440W	R	+	1	2	DDR1	30969150	0.908000	0.30866	1.000000	0.80357	0.996000	0.88848	0.038000	0.13862	0.194000	0.20326	0.561000	0.74099	CGG		0.697	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076494.3	NM_013994	
THSD7A	221981	broad.mit.edu	37	7	11514021	11514021	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr7:11514021C>T	ENST00000423059.4	-	8	2443	c.2192G>A	c.(2191-2193)gGc>gAc	p.G731D	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	731	TSP type-1 7. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TGTCTGCATGCCGACAGAGCA	0.512										HNSCC(18;0.044)																												uc003ssf.3																			0				ovary(3)	3						c.(2191-2193)GGC>GAC		thrombospondin, type I, domain containing 7A							103.0	102.0	103.0					7																	11514021		2031	4197	6228	SO:0001583	missense	221981					integral to membrane		g.chr7:11514021C>T		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.2192G>A	7.37:g.11514021C>T	ENSP00000406482:p.Gly731Asp	HNSCC(18;0.044)					p.G731D	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	8	2444	-			731			TSP type-1 7.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000423059.4	37	c.2192G>A	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.469926	0.84533	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.71817	-0.6	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.90225	0.6944	H	0.97758	4.07	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93308	0.6682	10	0.62326	D	0.03	.	18.9303	0.92563	0.0:1.0:0.0:0.0	.	731	Q9UPZ6	THS7A_HUMAN	D	731	ENSP00000406482:G731D	ENSP00000262042:G731D	G	-	2	0	THSD7A	11480546	1.000000	0.71417	0.998000	0.56505	0.674000	0.39518	7.776000	0.85560	2.550000	0.86006	0.563000	0.77884	GGC		0.512	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2	
IGF2BP3	10643	broad.mit.edu	37	7	23509595	23509595	+	Silent	SNP	C	C	T			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr7:23509595C>T	ENST00000258729.3	-	1	491	c.135G>A	c.(133-135)ccG>ccA	p.P45P	IGF2BP3_ENST00000491719.1_5'Flank	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	45	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation regulator activity (GO:0045182)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						AGCTCTCGTCCGGGCAGTCCA	0.697																																						uc003swg.2																			0				ovary(2)	2						c.(133-135)CCG>CCA		insulin-like growth factor 2 mRNA binding							40.0	46.0	44.0					7																	23509595		2203	4300	6503	SO:0001819	synonymous_variant	10643				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr7:23509595C>T	AF117108	CCDS5382.1	7p15.3	2014-02-19			ENSG00000136231	ENSG00000136231		"""RNA binding motif (RRM) containing"""	28868	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 3"", ""cancer/testis antigen 98"""	608259				9891060, 9178771	Standard	NM_006547		Approved	IMP-3, CT98, IMP3	uc003swg.3	O00425	OTTHUMG00000128445	ENST00000258729.3:c.135G>A	7.37:g.23509595C>T						IGF2BP3_uc003swh.1_RNA	p.P45P	NM_006547	NP_006538	O00425	IF2B3_HUMAN			1	401	-			45			RRM 1.		A0A4Z5|Q63HM0|Q6MZZ2|Q86VB1	Silent	SNP	ENST00000258729.3	37	c.135G>A	CCDS5382.1																																																																																				0.697	IGF2BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250243.2	NM_006547	
GNAT3	346562	broad.mit.edu	37	7	80117947	80117947	+	Silent	SNP	G	G	A			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr7:80117947G>A	ENST00000398291.3	-	3	300	c.207C>T	c.(205-207)ttC>ttT	p.F69F	CD36_ENST00000435819.1_Intron	NM_001102386.1	NP_001095856.1	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha transducing 3	69					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of visible light (GO:0009584)|platelet activation (GO:0030168)|response to nicotine (GO:0035094)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|synaptic transmission (GO:0007268)	acrosomal vesicle (GO:0001669)|apical plasma membrane (GO:0016324)|axoneme (GO:0005930)|heterotrimeric G-protein complex (GO:0005834)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						TTACTGCTTTGAACTCCATGC	0.338																																						uc011kgu.1																			0				ovary(1)	1						c.(205-207)TTC>TTT		guanine nucleotide binding protein, alpha							147.0	126.0	133.0					7																	80117947		1878	4108	5986	SO:0001819	synonymous_variant	346562				detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr7:80117947G>A		CCDS47625.1	7q21.11	2007-06-13			ENSG00000214415	ENSG00000214415			22800	protein-coding gene	gene with protein product		139395					Standard	NM_001102386		Approved	gustducin, GDCA	uc011kgu.2	A8MTJ3	OTTHUMG00000155401	ENST00000398291.3:c.207C>T	7.37:g.80117947G>A						CD36_uc003uhc.2_Intron	p.F69F	NM_001102386	NP_001095856	A8MTJ3	GNAT3_HUMAN			3	207	-			69					A4D1B2|A4D1B3|B9EJG5	Silent	SNP	ENST00000398291.3	37	c.207C>T	CCDS47625.1																																																																																				0.338	GNAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339909.3	XM_294370	
PEX1	5189	broad.mit.edu	37	7	92146721	92146721	+	Frame_Shift_Del	DEL	T	T	-			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr7:92146721delT	ENST00000248633.4	-	5	1203	c.1108delA	c.(1108-1110)attfs	p.I370fs	PEX1_ENST00000438045.1_Intron|PEX1_ENST00000541751.1_5'UTR|PEX1_ENST00000428214.1_Frame_Shift_Del_p.I370fs	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	370					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TCTGACCTAATTTTTTTTTGA	0.353																																						uc003uly.2																			0				ovary(1)|central_nervous_system(1)	2						c.(1108-1110)ATTfs		peroxin1							125.0	126.0	126.0					7																	92146721		2203	4300	6503	SO:0001589	frameshift_variant	5189				microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr7:92146721delT	AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"""ATPases / AAA-type"""	8850	protein-coding gene	gene with protein product		602136	"""peroxisome biogenesis factor 1"", ""Zellweger syndrome 1"", ""Zellweger syndrome"""	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.1108delA	7.37:g.92146721delT	ENSP00000248633:p.Ile370fs					PEX1_uc011khr.1_Frame_Shift_Del_p.I162fs|PEX1_uc010ley.2_Frame_Shift_Del_p.I370fs|PEX1_uc011khs.1_Intron|PEX1_uc011kht.1_RNA	p.I370fs	NM_000466	NP_000457	O43933	PEX1_HUMAN	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		5	1204	-	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	370					A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Frame_Shift_Del	DEL	ENST00000248633.4	37	c.1108delA	CCDS5627.1																																																																																				0.353	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466	
TRRAP	8295	broad.mit.edu	37	7	98554147	98554147	+	Silent	SNP	C	C	T			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr7:98554147C>T	ENST00000359863.4	+	42	6410	c.6201C>T	c.(6199-6201)gcC>gcT	p.A2067A	TRRAP_ENST00000446306.3_Silent_p.A2048A|TRRAP_ENST00000355540.3_Silent_p.A2049A	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2067	Interaction with TP53.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCACCGGAGCCATCAGTGCAG	0.512																																						uc003upp.2																			0				ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37						c.(6199-6201)GCC>GCT		transformation/transcription domain-associated							101.0	93.0	95.0					7																	98554147		2203	4300	6503	SO:0001819	synonymous_variant	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98554147C>T	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.6201C>T	7.37:g.98554147C>T						TRRAP_uc011kis.1_Silent_p.A2049A|TRRAP_uc003upr.2_Silent_p.A1766A	p.A2067A	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		42	6410	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		2067			Interaction with TP53.		A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	c.6201C>T	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	10.32	1.318172	0.23994	.	.	ENSG00000196367	ENST00000456197	.	.	.	5.69	-2.91	0.05631	.	.	.	.	.	T	0.47192	0.1432	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40251	-0.9573	4	.	.	.	.	4.5407	0.12056	0.3795:0.4104:0.0754:0.1347	.	.	.	.	L	1789	.	.	P	+	2	0	TRRAP	98392083	0.958000	0.32768	0.960000	0.40013	0.942000	0.58702	0.004000	0.13106	-0.389000	0.07786	-0.940000	0.02684	CCA		0.512	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496	
TRRAP	8295	broad.mit.edu	37	7	98567836	98567836	+	Silent	SNP	C	C	T			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr7:98567836C>T	ENST00000359863.4	+	51	7802	c.7593C>T	c.(7591-7593)caC>caT	p.H2531H	TRRAP_ENST00000446306.3_Silent_p.H2513H|TRRAP_ENST00000355540.3_Silent_p.H2513H	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2531					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCGATAGCCACGACCGTGCCG	0.632																																						uc003upp.2																			0				ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37						c.(7591-7593)CAC>CAT		transformation/transcription domain-associated							105.0	95.0	99.0					7																	98567836		2203	4300	6503	SO:0001819	synonymous_variant	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98567836C>T	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.7593C>T	7.37:g.98567836C>T						TRRAP_uc011kis.1_Silent_p.H2513H|TRRAP_uc003upr.2_Silent_p.H2230H	p.H2531H	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		51	7802	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		2531					A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	c.7593C>T	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	1.785	-0.480942	0.04383	.	.	ENSG00000196367	ENST00000456197	.	.	.	5.85	-10.1	0.00402	.	.	.	.	.	T	0.65450	0.2692	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.77731	-0.2478	4	.	.	.	.	20.2145	0.98293	0.0:0.4002:0.0:0.5998	.	.	.	.	M	2253	.	.	T	+	2	0	TRRAP	98405772	0.000000	0.05858	0.043000	0.18650	0.404000	0.30871	-2.377000	0.01069	-2.901000	0.00312	-2.929000	0.00088	ACG		0.632	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496	
CLCN1	1180	broad.mit.edu	37	7	143043325	143043325	+	Silent	SNP	G	G	A			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr7:143043325G>A	ENST00000343257.2	+	18	2352	c.2265G>A	c.(2263-2265)ccG>ccA	p.P755P		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	755					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					AACAGCAGCCGGAAGCACCAG	0.602																																						uc003wcr.1																			0				ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(2263-2265)CCG>CCA		chloride channel 1, skeletal muscle							53.0	52.0	52.0					7																	143043325		2203	4300	6503	SO:0001819	synonymous_variant	1180				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr7:143043325G>A	Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"""Ion channels / Chloride channels : Voltage-sensitive"""	2019	protein-coding gene	gene with protein product	"""Thomsen disease, autosomal dominant"""	118425	"""chloride channel 1, skeletal muscle"""			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.2265G>A	7.37:g.143043325G>A						CLCN1_uc011ktc.1_Silent_p.P367P	p.P755P	NM_000083	NP_000074	P35523	CLCN1_HUMAN			18	2352	+	Melanoma(164;0.205)		755			Cytoplasmic (By similarity).		A4D2H5|Q2M202	Silent	SNP	ENST00000343257.2	37	c.2265G>A	CCDS5881.1																																																																																				0.602	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083	
OR6B1	135946	broad.mit.edu	37	7	143701705	143701705	+	Missense_Mutation	SNP	A	A	G			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr7:143701705A>G	ENST00000408922.2	+	1	684	c.616A>G	c.(616-618)Atc>Gtc	p.I206V		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	206						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					GGCACTGGTCATCTTCCTATT	0.458																																						uc003wdt.1																			0				ovary(1)	1						c.(616-618)ATC>GTC		olfactory receptor, family 6, subfamily B,							206.0	197.0	200.0					7																	143701705		2019	4190	6209	SO:0001583	missense	135946				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143701705A>G		CCDS43667.1	7q33-q35	2012-08-09			ENSG00000221813	ENSG00000221813		"""GPCR / Class A : Olfactory receptors"""	8354	protein-coding gene	gene with protein product							Standard	NM_001005281		Approved	OR7-3	uc003wdt.1	O95007	OTTHUMG00000157765	ENST00000408922.2:c.616A>G	7.37:g.143701705A>G	ENSP00000386151:p.Ile206Val						p.I206V	NM_001005281	NP_001005281	O95007	OR6B1_HUMAN			1	616	+	Melanoma(164;0.0783)		206			Helical; Name=5; (Potential).		A4D2G2|B9EH47|Q6IFP6|Q96R38	Missense_Mutation	SNP	ENST00000408922.2	37	c.616A>G	CCDS43667.1	.	.	.	.	.	.	.	.	.	.	A	0.007	-2.012047	0.00422	.	.	ENSG00000221813	ENST00000408922	T	0.00044	8.83	5.17	2.8	0.32819	GPCR, rhodopsin-like superfamily (1);	0.198595	0.23951	N	0.042948	T	0.00073	0.0002	N	0.05050	-0.12	0.21861	N	0.999502	B	0.02656	0.0	B	0.04013	0.001	T	0.01702	-1.1292	10	0.14252	T	0.57	.	8.6768	0.34185	0.8581:0.0:0.1419:0.0	.	206	O95007	OR6B1_HUMAN	V	206	ENSP00000386151:I206V	ENSP00000386151:I206V	I	+	1	0	OR6B1	143332638	0.000000	0.05858	0.994000	0.49952	0.032000	0.12392	0.072000	0.14617	0.423000	0.26033	-1.150000	0.01838	ATC		0.458	OR6B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349566.1		
HR	55806	broad.mit.edu	37	8	21983183	21983183	+	Missense_Mutation	SNP	G	G	T			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr8:21983183G>T	ENST00000381418.4	-	4	2948	c.1468C>A	c.(1468-1470)Ctc>Atc	p.L490I	HR_ENST00000312841.8_Missense_Mutation_p.L490I	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	490					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		TTTGCAGGGAGAGCCAGGCAT	0.602																																						uc003xas.2																			0				large_intestine(1)|ovary(1)	2						c.(1468-1470)CTC>ATC		hairless protein isoform a							67.0	58.0	61.0					8																	21983183		2203	4300	6503	SO:0001583	missense	55806						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr8:21983183G>T	AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"""hairless (mouse) homolog"", ""hairless homolog (mouse)"""	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.1468C>A	8.37:g.21983183G>T	ENSP00000370826:p.Leu490Ile					HR_uc003xat.2_Missense_Mutation_p.L490I	p.L490I	NM_005144	NP_005135	O43593	HAIR_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	4	2133	-		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)	490					Q6GS30|Q96H33|Q9NPE1	Missense_Mutation	SNP	ENST00000381418.4	37	c.1468C>A	CCDS6022.1	.	.	.	.	.	.	.	.	.	.	G	6.098	0.386384	0.11524	.	.	ENSG00000168453	ENST00000381418;ENST00000312841	T;T	0.71817	-0.6;-0.6	5.3	2.46	0.29980	.	0.366842	0.23494	N	0.047561	T	0.42337	0.1198	N	0.19112	0.55	0.09310	N	1	B;P	0.36048	0.096;0.534	B;B	0.32211	0.026;0.142	T	0.44050	-0.9353	10	0.02654	T	1	-0.1612	4.2115	0.10514	0.0863:0.1575:0.593:0.1632	.	490;490	O43593-2;O43593	.;HAIR_HUMAN	I	490	ENSP00000370826:L490I;ENSP00000326765:L490I	ENSP00000326765:L490I	L	-	1	0	HR	22039128	0.005000	0.15991	0.000000	0.03702	0.001000	0.01503	0.753000	0.26376	0.295000	0.22570	-0.339000	0.08088	CTC		0.602	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1		
CYP11B2	1585	broad.mit.edu	37	8	143994857	143994857	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr8:143994857G>A	ENST00000323110.2	-	6	967	c.965C>T	c.(964-966)cCc>cTc	p.P322L		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	322					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	CATCAGCAAGGGAAACGCTGT	0.632									Familial Hyperaldosteronism type I																													uc003yxk.1																			0					0						c.(964-966)CCC>CTC		cytochrome P450, family 11, subfamily B,	Candesartan(DB00796)|Metyrapone(DB01011)						73.0	68.0	70.0					8																	143994857		2203	4300	6503	SO:0001583	missense	1585	Familial_Hyperaldosteronism_type_I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143994857G>A	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"""Cytochrome P450s"""	2592	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	124080	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"""	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.965C>T	8.37:g.143994857G>A	ENSP00000325822:p.Pro322Leu						p.P322L	NM_000498	NP_000489	P19099	C11B2_HUMAN			6	968	-	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		322					B0ZBE4|Q16726	Missense_Mutation	SNP	ENST00000323110.2	37	c.965C>T	CCDS6393.1	.	.	.	.	.	.	.	.	.	.	.	14.89	2.670306	0.47677	.	.	ENSG00000179142	ENST00000323110	T	0.68624	-0.34	3.88	2.96	0.34315	.	0.571285	0.15782	N	0.244900	T	0.60495	0.2273	L	0.39514	1.22	0.51233	D	0.999913	B	0.32382	0.368	B	0.38327	0.271	T	0.60047	-0.7339	10	0.59425	D	0.04	.	10.8429	0.46726	0.0:0.1938:0.8062:0.0	.	322	P19099	C11B2_HUMAN	L	322	ENSP00000325822:P322L	ENSP00000325822:P322L	P	-	2	0	CYP11B2	143991859	0.992000	0.36948	0.559000	0.28332	0.197000	0.23852	7.454000	0.80714	0.783000	0.33636	0.558000	0.71614	CCC		0.632	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359904.1		
IFNB1	3456	broad.mit.edu	37	9	21077465	21077465	+	Missense_Mutation	SNP	C	C	A			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr9:21077465C>A	ENST00000380232.2	-	1	478	c.404G>T	c.(403-405)gGa>gTa	p.G135V		NM_002176.2	NP_002167.1	P01574	IFNB_HUMAN	interferon, beta 1, fibroblast	135					adaptive immune response (GO:0002250)|B cell activation involved in immune response (GO:0002312)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation (GO:0030101)|natural killer cell activation involved in immune response (GO:0002323)|negative regulation of T cell differentiation (GO:0045581)|negative regulation of T-helper 2 cell cytokine production (GO:2000552)|negative regulation of viral genome replication (GO:0045071)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of innate immune response (GO:0045089)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	12				GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)		CATGAGTTTTCCCCTGGTGAA	0.443																																						uc003zok.2																			0				ovary(1)|breast(1)|kidney(1)	3						c.(403-405)GGA>GTA		interferon, beta 1, fibroblast precursor	Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)						188.0	194.0	192.0					9																	21077465		2203	4300	6503	SO:0001583	missense	3456				activation of caspase activity|B cell proliferation|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of cell proliferation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity	g.chr9:21077465C>A		CCDS6495.1	9p22	2008-07-21			ENSG00000171855	ENSG00000171855		"""Interferons"""	5434	protein-coding gene	gene with protein product		147640		IFNB			Standard	NM_002176		Approved	IFB, IFF	uc003zok.3	P01574	OTTHUMG00000019652	ENST00000380232.2:c.404G>T	9.37:g.21077465C>A	ENSP00000369581:p.Gly135Val						p.G135V	NM_002176	NP_002167	P01574	IFNB_HUMAN		GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)	1	479	-			135					Q5VWC9	Missense_Mutation	SNP	ENST00000380232.2	37	c.404G>T	CCDS6495.1	.	.	.	.	.	.	.	.	.	.	C	8.483	0.860215	0.17178	.	.	ENSG00000171855	ENST00000380232	T	0.18810	2.19	5.19	-5.4	0.02656	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	2.550580	0.01329	N	0.011198	T	0.15782	0.0380	M	0.67397	2.05	0.09310	N	1	P	0.44877	0.845	B	0.34991	0.193	T	0.37663	-0.9696	10	0.29301	T	0.29	1.1575	1.2456	0.01972	0.2299:0.2187:0.1134:0.438	.	135	P01574	IFNB_HUMAN	V	135	ENSP00000369581:G135V	ENSP00000369581:G135V	G	-	2	0	IFNB1	21067465	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-2.771000	0.00779	-1.015000	0.03375	0.650000	0.86243	GGA		0.443	IFNB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051881.1	NM_002176	
OR1J4	26219	broad.mit.edu	37	9	125281885	125281885	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr9:125281885G>A	ENST00000340750.1	+	1	466	c.466G>A	c.(466-468)Gcc>Acc	p.A156T		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	156						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						CTGTACCAATGCCCTGTCTCA	0.517																																						uc011lyw.1																			0					0						c.(466-468)GCC>ACC		olfactory receptor, family 1, subfamily J,							212.0	165.0	181.0					9																	125281885		2203	4300	6503	SO:0001583	missense	26219				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125281885G>A	X64979	CCDS35122.1	9q33.2	2013-09-20			ENSG00000239590	ENSG00000239590		"""GPCR / Class A : Olfactory receptors"""	8211	protein-coding gene	gene with protein product						1370859	Standard	NM_001004452		Approved	HTPCRX01, HSHTPCRX01	uc011lyw.2	Q8NGS1	OTTHUMG00000020606	ENST00000340750.1:c.466G>A	9.37:g.125281885G>A	ENSP00000343521:p.Ala156Thr						p.A156T	NM_001004452	NP_001004452	Q8NGS1	OR1J4_HUMAN			1	466	+			156			Helical; Name=4; (Potential).		A3KFM0|Q6IEZ3|Q96R89	Missense_Mutation	SNP	ENST00000340750.1	37	c.466G>A	CCDS35122.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.672994	0.29693	.	.	ENSG00000239590	ENST00000340750	T	0.39056	1.1	5.22	3.25	0.37280	GPCR, rhodopsin-like superfamily (1);	0.245446	0.20433	U	0.092421	T	0.40815	0.1132	L	0.45744	1.44	0.21473	N	0.999677	P	0.38440	0.631	P	0.44811	0.461	T	0.31392	-0.9945	10	0.66056	D	0.02	.	8.2074	0.31463	0.0:0.1371:0.4802:0.3827	.	156	Q8NGS1	OR1J4_HUMAN	T	156	ENSP00000343521:A156T	ENSP00000343521:A156T	A	+	1	0	OR1J4	124321706	0.000000	0.05858	0.597000	0.28824	0.013000	0.08279	0.515000	0.22801	1.582000	0.49881	-0.175000	0.13238	GCC		0.517	OR1J4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053936.1		
GTF3C4	9329	broad.mit.edu	37	9	135546145	135546145	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr9:135546145C>T	ENST00000372146.4	+	1	724	c.160C>T	c.(160-162)Cgg>Tgg	p.R54W	DDX31_ENST00000372159.3_5'Flank|DDX31_ENST00000372153.1_5'Flank|DDX31_ENST00000544003.1_5'Flank|DDX31_ENST00000480876.1_5'Flank|DDX31_ENST00000310532.2_5'Flank|GTF3C4_ENST00000483873.2_Missense_Mutation_p.R54W	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	54					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|positive regulation of catalytic activity (GO:0043085)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)|enzyme activator activity (GO:0008047)|histone acetyltransferase activity (GO:0004402)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		GGTGACTCGGCGGGAGCCGGC	0.736																																					Pancreas(142;417 1875 11086 31973 47667)	uc010mzv.2																			0				ovary(1)|central_nervous_system(1)	2						c.(160-162)CGG>TGG		general transcription factor IIIC 4							8.0	10.0	9.0					9																	135546145		2154	4247	6401	SO:0001583	missense	9329				transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding	g.chr9:135546145C>T	AF142328	CCDS6953.1	9q34.3	2011-07-01	2002-08-29		ENSG00000125484	ENSG00000125484		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""General transcription factors"""	4667	protein-coding gene	gene with protein product		604892	"""general transcription factor IIIC, polypeptide 4 (90kD)"""			10523658	Standard	NM_012204		Approved	TFIIIC90, KAT12	uc010mzv.3	Q9UKN8	OTTHUMG00000020842	ENST00000372146.4:c.160C>T	9.37:g.135546145C>T	ENSP00000361219:p.Arg54Trp					DDX31_uc004cbq.1_5'Flank|DDX31_uc010mzu.1_5'Flank|DDX31_uc004cbr.1_5'Flank|DDX31_uc004cbs.1_5'Flank|GTF3C4_uc010mzw.2_RNA	p.R54W	NM_012204	NP_036336	Q9UKN8	TF3C4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)	1	418	+			54					Q5VZJ7	Missense_Mutation	SNP	ENST00000372146.4	37	c.160C>T	CCDS6953.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.630496	0.87660	.	.	ENSG00000125484	ENST00000372146	T	0.60672	0.17	3.67	3.67	0.42095	Transcription factor IIIC, 90kDa subunit, N-terminal (1);	0.000000	0.64402	D	0.000003	T	0.54791	0.1880	N	0.08118	0	0.45295	D	0.998299	D	0.89917	1.0	D	0.83275	0.996	T	0.62835	-0.6770	10	0.87932	D	0	-17.6321	10.854	0.46786	0.2029:0.7971:0.0:0.0	.	54	Q9UKN8	TF3C4_HUMAN	W	54	ENSP00000361219:R54W	ENSP00000361219:R54W	R	+	1	2	GTF3C4	134535966	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.030000	0.30153	2.043000	0.60533	0.455000	0.32223	CGG		0.736	GTF3C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054792.1		
C9orf116	138162	broad.mit.edu	37	9	138387358	138387358	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr9:138387358G>A	ENST00000429260.2	-	3	346	c.326C>T	c.(325-327)aCt>aTt	p.T109I	C9orf116_ENST00000371789.3_3'UTR|C9orf116_ENST00000371791.1_3'UTR	NM_001048265.1|NM_144654.2	NP_001041730.1|NP_653255.1	Q5BN46	CI116_HUMAN	chromosome 9 open reading frame 116	109															OV - Ovarian serous cystadenocarcinoma(145;7.39e-08)|Epithelial(140;5.19e-07)|all cancers(34;1.04e-05)		ATCGGGGCCAGTCACGATGCT	0.478																																						uc004cft.1																			0					0						c.(325-327)ACT>ATT		hypothetical protein LOC138162 isoform 1							200.0	165.0	177.0					9																	138387358		2203	4300	6503	SO:0001583	missense	138162							g.chr9:138387358G>A	BC021261	CCDS6989.1, CCDS43899.1	9q34.3	2012-04-02			ENSG00000160345	ENSG00000160345			28435	protein-coding gene	gene with protein product	"""p53-induced expression 1 in Rb&#8722;/&#8722; cells"""	614502				12477932	Standard	NM_144654		Approved	MGC29761, RbEST47, PIERCE1	uc004cft.1	Q5BN46	OTTHUMG00000020902	ENST00000429260.2:c.326C>T	9.37:g.138387358G>A	ENSP00000395281:p.Thr109Ile					C9orf116_uc004cfs.1_3'UTR|C9orf116_uc004cfu.1_RNA	p.T109I	NM_001048265	NP_001041730	Q5BN46	CI116_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;7.39e-08)|Epithelial(140;5.19e-07)|all cancers(34;1.04e-05)	3	390	-			109					Q5T897|Q8WU44	Missense_Mutation	SNP	ENST00000429260.2	37	c.326C>T	CCDS43899.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.965278	0.53507	.	.	ENSG00000160345	ENST00000429260	.	.	.	5.03	5.03	0.67393	.	0.104262	0.39985	N	0.001212	T	0.76456	0.3990	M	0.62723	1.935	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.78979	-0.1990	9	0.72032	D	0.01	-19.003	15.5759	0.76387	0.0:0.0:1.0:0.0	.	109	Q5BN46	CI116_HUMAN	I	109	.	ENSP00000395281:T109I	T	-	2	0	C9orf116	137527179	1.000000	0.71417	0.883000	0.34634	0.211000	0.24417	4.797000	0.62503	2.339000	0.79563	0.650000	0.86243	ACT		0.478	C9orf116-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054985.2	NM_144654	
CSF2RA	1438	broad.mit.edu	37	X	1407665	1407665	+	Silent	SNP	C	C	T			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chrX:1407665C>T	ENST00000381524.3	+	6	543	c.357C>T	c.(355-357)acC>acT	p.T119T	BX649553.3_ENST00000581137.1_RNA|CSF2RA_ENST00000355805.2_Silent_p.T119T|CSF2RA_ENST00000355432.3_Silent_p.T119T|CSF2RA_ENST00000501036.2_5'UTR|CSF2RA_ENST00000381500.1_Silent_p.T119T|CSF2RA_ENST00000432318.2_Silent_p.T119T|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000417535.2_Silent_p.T119T|CSF2RA_ENST00000361536.3_Silent_p.T119T|CSF2RA_ENST00000381509.3_Silent_p.T119T|CSF2RA_ENST00000381529.3_Silent_p.T119T			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	119					response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GGGAGGGTACCGCTGCTCAGA	0.517																																					Esophageal Squamous(131;723 1707 25334 40494 41806)	uc010nct.2																			0				ovary(2)	2						c.(355-357)ACC>ACT		colony stimulating factor 2 receptor alpha chain	Sargramostim(DB00020)						188.0	197.0	194.0					X																	1407665		2203	4296	6499	SO:0001819	synonymous_variant	1438					extracellular region|integral to plasma membrane	cytokine receptor activity	g.chrX:1407665C>T	M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"""CD molecules"", ""Pseudoautosomal regions / PAR1"""	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.357C>T	X.37:g.1407665C>T						CSF2RA_uc011mhb.1_Silent_p.T119T|CSF2RA_uc004cpq.2_Silent_p.T119T|CSF2RA_uc004cpn.2_Silent_p.T119T|CSF2RA_uc004cpo.2_Silent_p.T119T|CSF2RA_uc010ncu.2_RNA|CSF2RA_uc011mhc.1_5'UTR|CSF2RA_uc004cpp.2_Silent_p.T119T|CSF2RA_uc010ncv.2_Silent_p.T119T|CSF2RA_uc004cpr.2_Silent_p.T119T	p.T119T	NM_001161529	NP_001155001	P15509	CSF2R_HUMAN			7	679	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	119			Extracellular (Potential).		A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Silent	SNP	ENST00000381524.3	37	c.357C>T	CCDS35191.1																																																																																				0.517	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2		
