#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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_tumor_sample
C8A	731	broad.mit.edu	37	1	57373628	57373628	+	Splice_Site	SNP	G	G	A			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr1:57373628G>A	ENST00000361249.3	+	9	1318		c.e9-1			NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide						complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						CTTGATGGCAGAAAGGGCCAG	0.488																																						uc001cyo.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.e9-1		complement component 8, alpha polypeptide							108.0	103.0	105.0					1																	57373628		2203	4300	6503	SO:0001630	splice_region_variant	731				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		g.chr1:57373628G>A	M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"""Complement system"""	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.1223-1G>A	1.37:g.57373628G>A							p.E408_splice	NM_000562	NP_000553	P07357	CO8A_HUMAN			9	1355	+								A2RUI4|A2RUI5|Q13668|Q9H130	Splice_Site	SNP	ENST00000361249.3	37	c.1223_splice	CCDS606.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.809925	0.31961	.	.	ENSG00000157131	ENST00000361249	.	.	.	6.03	4.99	0.66335	.	.	.	.	.	.	.	.	.	.	.	0.31201	N	0.699767	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.1867	0.31343	0.223:0.0:0.777:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C8A	57146216	0.678000	0.27586	0.019000	0.16419	0.074000	0.17049	2.597000	0.46214	1.206000	0.43276	0.557000	0.71058	.		0.488	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1		NM_000562	Intron	14	38	0	0	0	0.049695	0	14	38		
OR6N2	81442	broad.mit.edu	37	1	158746645	158746645	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr1:158746645G>A	ENST00000339258.1	-	1	780	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					TTCTTTAGCCGCACATACATG	0.433																																						uc010pir.1		NaN																	0					0						c.(781-783)CGG>TGG		olfactory receptor, family 6, subfamily N,							102.0	97.0	98.0					1																	158746645		2203	4300	6503	SO:0001583	missense	81442				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158746645G>A	BK004200	CCDS30906.1	1q23.1	2012-08-09			ENSG00000188340	ENSG00000188340		"""GPCR / Class A : Olfactory receptors"""	15035	protein-coding gene	gene with protein product							Standard	NM_001005278		Approved		uc010pir.2	Q8NGY6	OTTHUMG00000022775	ENST00000339258.1:c.781C>T	1.37:g.158746645G>A	ENSP00000344101:p.Arg261Trp						p.R261W	NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN			1	781	-	all_hematologic(112;0.0378)		261			Extracellular (Potential).		Q6IFR2	Missense_Mutation	SNP	ENST00000339258.1	37	c.781C>T	CCDS30906.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.822416	0.32237	.	.	ENSG00000188340	ENST00000339258	T	0.37915	1.17	4.94	-2.19	0.07015	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33732	N	0.004604	T	0.44644	0.1303	M	0.72118	2.19	0.20307	N	0.999916	D	0.89917	1.0	D	0.91635	0.999	T	0.58967	-0.7542	10	0.66056	D	0.02	-8.2257	18.501	0.90880	0.0:0.0:0.1769:0.8231	.	261	Q8NGY6	OR6N2_HUMAN	W	261	ENSP00000344101:R261W	ENSP00000344101:R261W	R	-	1	2	OR6N2	157013269	0.000000	0.05858	0.168000	0.22838	0.539000	0.34962	-0.709000	0.05030	-0.609000	0.05724	-0.836000	0.03065	CGG		0.433	OR6N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059068.1				12	38	0	0	0	0.09319	0	12	38		
DNM3	26052	broad.mit.edu	37	1	171890908	171890908	+	Missense_Mutation	SNP	C	C	T	rs201627857		TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr1:171890908C>T	ENST00000355305.5	+	2	339	c.182C>T	c.(181-183)tCg>tTg	p.S61L	DNM3_ENST00000367731.1_Missense_Mutation_p.S61L|DNM3_ENST00000520906.1_Missense_Mutation_p.S61L|DNM3_ENST00000358155.4_Missense_Mutation_p.S61L|DNM3_ENST00000367733.2_Missense_Mutation_p.S61L			Q9UQ16	DYN3_HUMAN	dynamin 3	61	Dynamin-type G.				endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416)	dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CCTCGAGGGTCGGGCATTGTA	0.433																																						uc001gie.2		NaN																	0				breast(1)	1						c.(181-183)TCG>TTG		dynamin 3 isoform a		C	LEU/SER,LEU/SER	2,3762		0,2,1880	122.0	119.0	120.0		182,182	5.8	1.0	1		120	1,8211		0,1,4105	yes	missense,missense	DNM3	NM_001136127.1,NM_015569.3	145,145	0,3,5985	TT,TC,CC		0.0122,0.0531,0.0251	probably-damaging,probably-damaging	61/860,61/864	171890908	3,11973	1882	4106	5988	SO:0001583	missense	26052				endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding	g.chr1:171890908C>T	AL136712	CCDS44276.1, CCDS60356.1	1q24.1	2013-01-10			ENSG00000197959	ENSG00000197959		"""Pleckstrin homology (PH) domain containing"""	29125	protein-coding gene	gene with protein product	"""Dyna III"""	611445				10048485	Standard	NM_015569		Approved	KIAA0820	uc001gie.4	Q9UQ16	OTTHUMG00000034913	ENST00000355305.5:c.182C>T	1.37:g.171890908C>T	ENSP00000347457:p.Ser61Leu					DNM3_uc001gid.3_Missense_Mutation_p.S61L|DNM3_uc009wwb.2_Missense_Mutation_p.S61L|DNM3_uc001gif.2_Missense_Mutation_p.S61L	p.S61L	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN			2	358	+			61					A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Missense_Mutation	SNP	ENST00000355305.5	37	c.182C>T		.	.	.	.	.	.	.	.	.	.	C	20.8	4.047270	0.75846	5.31E-4	1.22E-4	ENSG00000197959	ENST00000359070;ENST00000358155;ENST00000367733;ENST00000355305;ENST00000367731;ENST00000520906	D;D;D;D;D	0.97041	-4.22;-4.22;-4.22;-4.22;-4.22	5.81	5.81	0.92471	.	0.068965	0.64402	D	0.000011	D	0.98826	0.9604	H	0.96805	3.885	0.53005	D	0.99996	D;D;D;D	0.76494	0.999;0.999;0.999;0.992	P;P;P;P	0.61132	0.875;0.836;0.884;0.46	D	0.99449	1.0940	10	0.87932	D	0	.	15.5827	0.76459	0.0:1.0:0.0:0.0	.	61;61;61;61	E5RHK8;Q9UQ16-2;Q9UQ16-3;Q6P2G1	.;.;.;.	L	61	ENSP00000350876:S61L;ENSP00000356707:S61L;ENSP00000347457:S61L;ENSP00000356705:S61L;ENSP00000429701:S61L	ENSP00000347457:S61L	S	+	2	0	DNM3	170157531	0.989000	0.36119	0.974000	0.42286	0.989000	0.77384	4.540000	0.60664	2.746000	0.94184	0.655000	0.94253	TCG		0.433	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000084531.1		NM_015569		9	10	0	0	0	0.080935	0	9	10		
PROX1	5629	broad.mit.edu	37	1	214184960	214184960	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr1:214184960A>C	ENST00000366958.4	+	4	2538	c.1930A>C	c.(1930-1932)Aac>Cac	p.N644H	PROX1_ENST00000498508.2_Missense_Mutation_p.N644H|PROX1_ENST00000261454.4_Missense_Mutation_p.N644H|PROX1_ENST00000435016.1_Missense_Mutation_p.N644H	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	644	Prospero-like.				aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TCAAGCCATCAACGATGGGGT	0.443																																						uc001hkh.2		NaN																	0				ovary(3)|lung(1)|central_nervous_system(1)|skin(1)	6						c.(1930-1932)AAC>CAC		prospero homeobox 1							165.0	143.0	150.0					1																	214184960		2203	4300	6503	SO:0001583	missense	5629				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr1:214184960A>C	U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.1930A>C	1.37:g.214184960A>C	ENSP00000355925:p.Asn644His						p.N644H	NM_002763	NP_002754	Q92786	PROX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)	4	2202	+			644			Prospero-like.		A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	ENST00000366958.4	37	c.1930A>C	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.285769	0.80803	.	.	ENSG00000117707	ENST00000541470;ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.73	5.73	0.89815	Homeo-prospero domain (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.63721	0.2535	M	0.65975	2.015	0.80722	D	1	D	0.71674	0.998	D	0.83275	0.996	T	0.64672	-0.6352	10	0.52906	T	0.07	-5.9659	16.3123	0.82883	1.0:0.0:0.0:0.0	.	644	Q92786	PROX1_HUMAN	H	216;644;644;644;644	ENSP00000420283:N644H;ENSP00000355925:N644H;ENSP00000400694:N644H;ENSP00000261454:N644H	ENSP00000261454:N644H	N	+	1	0	PROX1	212251583	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.321000	0.72881	2.308000	0.77769	0.533000	0.62120	AAC		0.443	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6		NM_002763		64	8	0	0	0	0.139131	0	64	8		
ANKRD30A	91074	broad.mit.edu	37	10	37430773	37430773	+	Silent	SNP	G	G	A			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr10:37430773G>A	ENST00000602533.1	+	7	879	c.780G>A	c.(778-780)acG>acA	p.T260T	ANKRD30A_ENST00000374660.1_Silent_p.T260T|ANKRD30A_ENST00000361713.1_Silent_p.T260T			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	316					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CACCTGACACGGCTGAAAGCT	0.493																																						uc001iza.1		NaN																	0				ovary(7)|breast(1)|skin(1)	9						c.(778-780)ACG>ACA		ankyrin repeat domain 30A							54.0	56.0	55.0					10																	37430773		1872	4110	5982	SO:0001819	synonymous_variant	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37430773G>A	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.780G>A	10.37:g.37430773G>A							p.T260T	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			7	879	+			316					Q5W025	Silent	SNP	ENST00000602533.1	37	c.780G>A																																																																																					0.493	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2		NM_052997		3	51	0	0	0	0.115264	0	3	51		
KIF11	3832	broad.mit.edu	37	10	94405356	94405356	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr10:94405356C>G	ENST00000260731.3	+	18	2594	c.2504C>G	c.(2503-2505)tCt>tGt	p.S835C		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	835					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|chromosome segregation (GO:0007059)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|spindle assembly involved in mitosis (GO:0090307)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAGTGGGTATCTTCCTTAAAT	0.343																																					Colon(47;212 1003 2764 4062 8431)	uc001kic.2		NaN																	0				skin(1)	1						c.(2503-2505)TCT>TGT		kinesin family member 11							68.0	73.0	72.0					10																	94405356		2202	4300	6502	SO:0001583	missense	3832				blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding	g.chr10:94405356C>G	X85137	CCDS7422.1	10q24.1	2008-03-03	2003-01-09	2003-01-10	ENSG00000138160	ENSG00000138160		"""Kinesins"""	6388	protein-coding gene	gene with protein product		148760	"""kinesin-like 1"""	KNSL1		1505978, 8548803	Standard	NM_004523		Approved	Eg5, HKSP, TRIP5	uc001kic.3	P52732	OTTHUMG00000018761	ENST00000260731.3:c.2504C>G	10.37:g.94405356C>G	ENSP00000260731:p.Ser835Cys					KIF11_uc010qnq.1_Intron	p.S835C	NM_004523	NP_004514	P52732	KIF11_HUMAN			18	2812	+			835					A0AV49|B2RMV3|Q15716|Q5VWX0	Missense_Mutation	SNP	ENST00000260731.3	37	c.2504C>G	CCDS7422.1	.	.	.	.	.	.	.	.	.	.	C	11.37	1.619812	0.28801	.	.	ENSG00000138160	ENST00000260731	T	0.73575	-0.76	6.17	6.17	0.99709	.	0.376195	0.28312	N	0.015819	T	0.62768	0.2455	N	0.19112	0.55	0.35400	D	0.791516	B	0.13145	0.007	B	0.08055	0.003	T	0.63373	-0.6652	10	0.40728	T	0.16	.	16.3795	0.83443	0.0:1.0:0.0:0.0	.	835	P52732	KIF11_HUMAN	C	835	ENSP00000260731:S835C	ENSP00000260731:S835C	S	+	2	0	KIF11	94395336	0.823000	0.29233	0.948000	0.38648	0.592000	0.36648	2.716000	0.47219	2.941000	0.99782	0.655000	0.94253	TCT		0.343	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049401.1		NM_004523		14	20	0	0	0	0.0333	0	14	20		
PGAM1	5223	broad.mit.edu	37	10	99190742	99190742	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr10:99190742C>G	ENST00000334828.5	+	3	593	c.445C>G	c.(445-447)Cag>Gag	p.Q149E	PGAM1_ENST00000467867.1_3'UTR	NM_002629.2	NP_002620.1	P18669	PGAM1_HUMAN	phosphoglycerate mutase 1 (brain)	149					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|regulation of glycolytic process (GO:0006110)|regulation of pentose-phosphate shunt (GO:0043456)|respiratory burst (GO:0045730)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|phosphoglycerate mutase activity (GO:0004619)|protein kinase binding (GO:0019901)			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6		Colorectal(252;0.162)		Epithelial(162;8.36e-10)|all cancers(201;5.62e-08)		CACAGAAGATCAGCTACCCTC	0.433																																						uc001knh.2		NaN																	0					0						c.(445-447)CAG>GAG		phosphoglycerate mutase 1							92.0	93.0	92.0					10																	99190742		2203	4300	6503	SO:0001583	missense	5223				gluconeogenesis|glycolysis|regulation of glycolysis|regulation of pentose-phosphate shunt|respiratory burst	cytosol	2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity|protein kinase binding	g.chr10:99190742C>G	BC010038	CCDS7458.1	10q25.3	2012-10-02			ENSG00000171314	ENSG00000171314	5.4.2.1		8888	protein-coding gene	gene with protein product	"""Phosphoglycerate mutase A, nonmuscle form"""	172250		PGAMA		2846553	Standard	NM_002629		Approved	PGAM-B	uc001knh.3	P18669	OTTHUMG00000018846	ENST00000334828.5:c.445C>G	10.37:g.99190742C>G	ENSP00000359991:p.Gln149Glu					PGAM1_uc009xvo.2_Intron|PGAM1_uc010qov.1_Missense_Mutation_p.Q134E	p.Q149E	NM_002629	NP_002620	P18669	PGAM1_HUMAN		Epithelial(162;8.36e-10)|all cancers(201;5.62e-08)	3	483	+		Colorectal(252;0.162)	149					Q9BWC0	Missense_Mutation	SNP	ENST00000334828.5	37	c.445C>G	CCDS7458.1	.	.	.	.	.	.	.	.	.	.	C	8.845	0.943253	0.18281	.	.	ENSG00000171314	ENST00000334828;ENST00000425387	T	0.79749	-1.3	5.13	5.13	0.70059	Histidine phosphatase superfamily, clade-1 (2);	0.000000	0.85682	D	0.000000	T	0.51719	0.1691	N	0.00742	-1.23	0.54753	D	0.999989	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.60777	-0.7196	10	0.02654	T	1	-22.7514	18.928	0.92553	0.0:1.0:0.0:0.0	.	134;149	B4DKL5;P18669	.;PGAM1_HUMAN	E	149;39	ENSP00000359991:Q149E	ENSP00000359991:Q149E	Q	+	1	0	PGAM1	99180732	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	3.821000	0.55700	2.549000	0.85964	0.561000	0.74099	CAG		0.433	PGAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049652.1		NM_002629		15	28	0	0	0	0.0918	0	15	28		
SEC23IP	11196	broad.mit.edu	37	10	121663630	121663630	+	Silent	SNP	G	G	A			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr10:121663630G>A	ENST00000369075.3	+	4	1014	c.942G>A	c.(940-942)acG>acA	p.T314T	SEC23IP_ENST00000543134.1_Silent_p.T103T	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	314	Interaction with SEC23A.				acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		TTCTTGGCACGGATGGAGGGC	0.458																																						uc001leu.1		NaN																	0				ovary(3)	3						c.(940-942)ACG>ACA		Sec23-interacting protein p125							111.0	103.0	106.0					10																	121663630		2203	4300	6503	SO:0001819	synonymous_variant	11196				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding	g.chr10:121663630G>A	AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"""Sterile alpha motif (SAM) domain containing"""	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.942G>A	10.37:g.121663630G>A						SEC23IP_uc010qtc.1_Silent_p.T103T	p.T314T	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN		all cancers(201;0.00515)	4	1014	+		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)	314			Interaction with SEC23A.		D3DRD2|Q8IXH5|Q9BUK5	Silent	SNP	ENST00000369075.3	37	c.942G>A	CCDS7618.1	.	.	.	.	.	.	.	.	.	.	G	7.634	0.679411	0.14907	.	.	ENSG00000107651	ENST00000442952	.	.	.	5.33	-10.7	0.00240	.	.	.	.	.	T	0.34716	0.0907	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44221	-0.9342	4	.	.	.	-15.0226	3.9652	0.09428	0.2251:0.071:0.4786:0.2253	.	.	.	.	R	80	.	.	G	+	1	0	SEC23IP	121653620	0.000000	0.05858	0.627000	0.29227	0.785000	0.44390	-3.626000	0.00410	-1.623000	0.01558	-1.008000	0.02478	GGA		0.458	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1				4	53	0	0	0	0.014758	0	4	53		
KRTAP5-5	439915	broad.mit.edu	37	11	1651442	1651442	+	Silent	SNP	G	G	T			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr11:1651442G>T	ENST00000399676.2	+	1	410	c.372G>T	c.(370-372)ggG>ggT	p.G124G		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	124	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.G124G(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCTGTGGGGGGTCCAAGGGGG	0.692																																						uc001lty.2		NaN																	2	Substitution - coding silent(2)		prostate(2)	lung(1)	1						c.(370-372)GGG>GGT		keratin associated protein 5-5																																				SO:0001819	synonymous_variant	439915					keratin filament		g.chr11:1651442G>T	AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"""Keratin associated proteins"""	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.372G>T	11.37:g.1651442G>T							p.G124G	NM_001001480	NP_001001480	Q701N2	KRA55_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	410	+		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	124			8 X 4 AA repeats of C-C-X-P.		A8MWN2	Silent	SNP	ENST00000399676.2	37	c.372G>T	CCDS41592.1																																																																																				0.692	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1				3	21	1	0	0.00116845	0.021553	0.00122948	3	21		
KRTAP5-5	439915	broad.mit.edu	37	11	1651459	1651459	+	Missense_Mutation	SNP	G	G	T	rs201822473		TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr11:1651459G>T	ENST00000399676.2	+	1	427	c.389G>T	c.(388-390)gGc>gTc	p.G130V		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	130	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGGGGCTGTGGCTCCTGTGGG	0.692																																						uc001lty.2		NaN																	0				lung(1)	1						c.(388-390)GGC>GTC		keratin associated protein 5-5							4.0	8.0	7.0					11																	1651459		1294	2900	4194	SO:0001583	missense	439915					keratin filament		g.chr11:1651459G>T	AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"""Keratin associated proteins"""	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.389G>T	11.37:g.1651459G>T	ENSP00000382584:p.Gly130Val						p.G130V	NM_001001480	NP_001001480	Q701N2	KRA55_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	427	+		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	130			8 X 4 AA repeats of C-C-X-P.		A8MWN2	Missense_Mutation	SNP	ENST00000399676.2	37	c.389G>T	CCDS41592.1	.	.	.	.	.	.	.	.	.	.	T	9.031	0.987211	0.18889	.	.	ENSG00000185940	ENST00000399676;ENST00000422553	T	0.01106	5.33	3.66	3.66	0.41972	.	.	.	.	.	T	0.04770	0.0129	M	0.77820	2.39	0.38529	D	0.948932	D	0.59357	0.985	P	0.56434	0.798	T	0.31392	-0.9945	9	0.66056	D	0.02	.	12.8924	0.58080	0.0:0.0:1.0:0.0	.	130	Q701N2	KRA55_HUMAN	V	130;101	ENSP00000382584:G130V	ENSP00000382584:G130V	G	+	2	0	KRTAP5-5	1608035	0.219000	0.23619	0.984000	0.44739	0.599000	0.36880	0.367000	0.20382	1.597000	0.50072	0.550000	0.68814	GGC		0.692	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1				3	18	1	0	0.00116845	0.021553	0.00122948	3	18		
NUP98	4928	broad.mit.edu	37	11	3794864	3794864	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr11:3794864C>G	ENST00000324932.7	-	6	1021	c.601G>C	c.(601-603)Gag>Cag	p.E201Q	NUP98_ENST00000397007.4_Missense_Mutation_p.E201Q|NUP98_ENST00000397004.4_Missense_Mutation_p.E201Q|NUP98_ENST00000355260.3_Missense_Mutation_p.E201Q|NUP98_ENST00000359171.4_Missense_Mutation_p.E201Q	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	201	GLEBS; interaction with RAE1.|Gly/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		TTACTGACCTCTAGTGACTTG	0.343			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																	uc001lyh.2		NaN		Dom	yes		11	11p15	4928	T	nucleoporin 98kDa			L	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11		AML		0				breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)	12						c.(601-603)GAG>CAG		nucleoporin 98kD isoform 1							125.0	108.0	114.0					11																	3794864		2201	4298	6499	SO:0001583	missense	4928				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity	g.chr11:3794864C>G	AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.601G>C	11.37:g.3794864C>G	ENSP00000316032:p.Glu201Gln					NUP98_uc001lyi.2_Missense_Mutation_p.E201Q|NUP98_uc001lyj.1_Missense_Mutation_p.E201Q|NUP98_uc001lyk.1_Missense_Mutation_p.E201Q|NUP98_uc010qxv.1_Missense_Mutation_p.E164Q	p.E201Q	NM_016320	NP_057404	P52948	NUP98_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)	6	892	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	201			Gly/Thr-rich.		Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	ENST00000324932.7	37	c.601G>C	CCDS7746.1	.	.	.	.	.	.	.	.	.	.	C	31	5.063677	0.93898	.	.	ENSG00000110713	ENST00000324932;ENST00000359171;ENST00000355260;ENST00000397004;ENST00000397007	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.83348	0.5235	M	0.82823	2.61	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;0.999;1.0;1.0	D;D;D;D;D	0.91635	0.997;0.994;0.996;0.999;0.999	T	0.83025	-0.0165	9	0.41790	T	0.15	.	18.2634	0.90043	0.0:1.0:0.0:0.0	.	201;201;201;201;201	P52948;P52948-3;P52948-4;P52948-2;P52948-5	NUP98_HUMAN;.;.;.;.	Q	201	.	ENSP00000316032:E201Q	E	-	1	0	NUP98	3751440	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.585000	0.82584	2.662000	0.90505	0.655000	0.94253	GAG		0.343	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3		NM_016320		11	8	0	0	0	0.105934	0	11	8		
OR52B6	340980	broad.mit.edu	37	11	5602231	5602231	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr11:5602231A>C	ENST00000345043.2	+	1	125	c.125A>C	c.(124-126)cAa>cCa	p.Q42P	HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	42						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGCTGGAGCAACTACATATC	0.502																																						uc010qzi.1		NaN																	0				ovary(1)	1						c.(124-126)CAA>CCA		olfactory receptor, family 52, subfamily B,							108.0	108.0	108.0					11																	5602231		2152	4269	6421	SO:0001583	missense	340980				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5602231A>C	AB065858	CCDS41611.1	11p15.4	2012-08-09			ENSG00000187747	ENSG00000187747		"""GPCR / Class A : Olfactory receptors"""	15211	protein-coding gene	gene with protein product							Standard	NM_001005162		Approved		uc010qzi.2	Q8NGF0	OTTHUMG00000066906	ENST00000345043.2:c.125A>C	11.37:g.5602231A>C	ENSP00000341581:p.Gln42Pro					HBG2_uc001mak.1_Intron	p.Q42P	NM_001005162	NP_001005162	Q8NGF0	O52B6_HUMAN		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	125	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	42			Extracellular (Potential).		Q6IFI7	Missense_Mutation	SNP	ENST00000345043.2	37	c.125A>C	CCDS41611.1	.	.	.	.	.	.	.	.	.	.	A	8.788	0.929882	0.18131	.	.	ENSG00000187747	ENST00000345043	T	0.00337	8.05	5.15	3.99	0.46301	.	1.499730	0.04742	U	0.422953	T	0.00328	0.0010	L	0.47190	1.495	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.53056	-0.8492	10	0.45353	T	0.12	.	10.2934	0.43610	0.8341:0.1659:0.0:0.0	.	42	Q8NGF0	O52B6_HUMAN	P	42	ENSP00000341581:Q42P	ENSP00000341581:Q42P	Q	+	2	0	OR52B6	5558807	0.000000	0.05858	0.018000	0.16275	0.706000	0.40770	-0.315000	0.08081	0.941000	0.37499	0.528000	0.53228	CAA		0.502	OR52B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143397.1		NM_001005162		7	12	0	0	0	0.038147	0	7	12		
OR5A2	219981	broad.mit.edu	37	11	59189895	59189895	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr11:59189895A>C	ENST00000302040.4	-	1	554	c.532T>G	c.(532-534)Ttt>Gtt	p.F178V		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	178						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						TCACAGAAAAAGTGGTTGATC	0.483																																						uc010rkt.1		NaN																	0					0						c.(532-534)TTT>GTT		olfactory receptor, family 5, subfamily A,							99.0	89.0	93.0					11																	59189895		2201	4295	6496	SO:0001583	missense	219981				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59189895A>C	AB065805	CCDS31560.1	11q12.1	2012-08-09			ENSG00000172324	ENSG00000172324		"""GPCR / Class A : Olfactory receptors"""	15249	protein-coding gene	gene with protein product							Standard	NM_001001954		Approved		uc010rkt.2	Q8NGI9	OTTHUMG00000167419	ENST00000302040.4:c.532T>G	11.37:g.59189895A>C	ENSP00000303834:p.Phe178Val						p.F178V	NM_001001954	NP_001001954	Q8NGI9	OR5A2_HUMAN			1	532	-			178			Extracellular (Potential).		B9EH21|Q6IFF4|Q96RB0	Missense_Mutation	SNP	ENST00000302040.4	37	c.532T>G	CCDS31560.1	.	.	.	.	.	.	.	.	.	.	A	15.53	2.861070	0.51482	.	.	ENSG00000172324	ENST00000302040	T	0.00350	7.98	5.47	4.34	0.51931	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36778	U	0.002404	T	0.00998	0.0033	M	0.92317	3.295	0.25476	N	0.987781	D	0.89917	1.0	D	0.97110	1.0	T	0.23726	-1.0180	10	0.54805	T	0.06	.	9.7425	0.40427	0.9175:0.0:0.0825:0.0	.	178	Q8NGI9	OR5A2_HUMAN	V	178	ENSP00000303834:F178V	ENSP00000303834:F178V	F	-	1	0	OR5A2	58946471	0.827000	0.29292	1.000000	0.80357	0.972000	0.66771	1.684000	0.37649	1.024000	0.39682	0.477000	0.44152	TTT		0.483	OR5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394552.1		NM_001001954		3	65	0	0	0	0.009096	0	3	65		
OR6X1	390260	broad.mit.edu	37	11	123624493	123624493	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr11:123624493A>G	ENST00000327930.2	-	1	760	c.734T>C	c.(733-735)gTt>gCt	p.V245A		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	245						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CAGGGAGACAACTGTCAGGTG	0.453																																						uc010rzy.1		NaN																	0				ovary(2)|skin(1)	3						c.(733-735)GTT>GCT		olfactory receptor, family 6, subfamily X,							102.0	82.0	89.0					11																	123624493		2202	4299	6501	SO:0001583	missense	390260				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123624493A>G	AB065510	CCDS31695.1	11q24.1	2012-08-09			ENSG00000221931	ENSG00000221931		"""GPCR / Class A : Olfactory receptors"""	14737	protein-coding gene	gene with protein product							Standard	NM_001005188		Approved		uc010rzy.2	Q8NH79	OTTHUMG00000166011	ENST00000327930.2:c.734T>C	11.37:g.123624493A>G	ENSP00000333724:p.Val245Ala						p.V245A	NM_001005188	NP_001005188	Q8NH79	OR6X1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	1	734	-		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	245			Helical; Name=6; (Potential).		B9EGW9|Q6IFA0	Missense_Mutation	SNP	ENST00000327930.2	37	c.734T>C	CCDS31695.1	.	.	.	.	.	.	.	.	.	.	A	14.25	2.480615	0.44044	.	.	ENSG00000221931	ENST00000327930	T	0.00237	8.47	4.2	3.07	0.35406	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00210	0.0006	M	0.71871	2.18	0.09310	N	1	B	0.21688	0.059	B	0.21917	0.037	T	0.42632	-0.9440	9	0.72032	D	0.01	-8.4594	4.3898	0.11334	0.694:0.2007:0.1054:0.0	.	245	Q8NH79	OR6X1_HUMAN	A	245	ENSP00000333724:V245A	ENSP00000333724:V245A	V	-	2	0	OR6X1	123129703	0.000000	0.05858	0.080000	0.20451	0.928000	0.56348	1.294000	0.33365	0.668000	0.31126	0.528000	0.53228	GTT		0.453	OR6X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387436.1		NM_001005188		13	22	0	0	0	0.09319	0	13	22		
SLC37A2	219855	broad.mit.edu	37	11	124952197	124952197	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr11:124952197C>A	ENST00000403796.2	+	10	1244	c.943C>A	c.(943-945)Ctc>Atc	p.L315I	SLC37A2_ENST00000407458.1_Missense_Mutation_p.L315I|SLC37A2_ENST00000298280.5_Missense_Mutation_p.L315I|SLC37A2_ENST00000308074.4_Missense_Mutation_p.L315I	NM_001145290.1	NP_001138762.1	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 2	315					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	27	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		TTACACCTTCCTCTACTGGCT	0.587																																					Melanoma(11;373 620 21213 26083 47768)	uc001qbn.2		NaN																	0				ovary(2)	2						c.(943-945)CTC>ATC		solute carrier family 37 (glycerol-3-phosphate							181.0	157.0	165.0					11																	124952197		2201	4299	6500	SO:0001583	missense	219855				carbohydrate transport|transmembrane transport	integral to membrane		g.chr11:124952197C>A	AK074100	CCDS31714.1, CCDS44757.1	11q24.2	2013-07-17	2013-07-17		ENSG00000134955	ENSG00000134955		"""Solute carriers"""	20644	protein-coding gene	gene with protein product			"""solute carrier family 37 (glycerol-3-phosphate transporter), member 2"""				Standard	NM_198277		Approved	FLJ00171	uc010sau.2	Q8TED4	OTTHUMG00000165879	ENST00000403796.2:c.943C>A	11.37:g.124952197C>A	ENSP00000384407:p.Leu315Ile					SLC37A2_uc010sau.1_Missense_Mutation_p.L315I|SLC37A2_uc010sav.1_5'Flank|SLC37A2_uc001qbp.2_5'Flank	p.L315I	NM_001145290	NP_001138762	Q8TED4	SPX2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)	10	1194	+	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)	315			Helical; (Potential).		A8K2P9|Q6P599|Q7Z7P8|Q8TEM2	Missense_Mutation	SNP	ENST00000403796.2	37	c.943C>A	CCDS44757.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.294283	0.81025	.	.	ENSG00000134955	ENST00000403796;ENST00000407458;ENST00000298280;ENST00000308074	T;T;T;T	0.59502	0.26;0.26;0.26;0.26	4.98	3.99	0.46301	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.76842	0.4044	M	0.88512	2.96	0.47065	D	0.999307	D;D	0.69078	0.997;0.975	D;D	0.67382	0.95;0.951	T	0.79376	-0.1829	10	0.45353	T	0.12	-32.9474	13.6148	0.62101	0.0:0.912:0.0:0.088	.	315;315	Q8TED4-2;Q8TED4	.;SPX2_HUMAN	I	315	ENSP00000384407:L315I;ENSP00000385126:L315I;ENSP00000298280:L315I;ENSP00000311833:L315I	ENSP00000298280:L315I	L	+	1	0	SLC37A2	124457407	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.579000	0.67457	2.595000	0.87683	0.561000	0.74099	CTC		0.587	SLC37A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000386837.1		XM_166184		30	48	1	0	9.45814e-24	0.074837	1.06688e-23	30	48		
PRB1	5542	broad.mit.edu	37	12	11506602	11506602	+	Intron	SNP	T	T	C			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr12:11506602T>C	ENST00000500254.2	-	3	351				PRB1_ENST00000546254.1_Intron|PRB1_ENST00000545626.1_Intron	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1							extracellular region (GO:0005576)				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGGACTTGTCTCCTTGTGGGG	0.607																																						uc001qzw.1		NaN																	0					0						c.(433-435)GGA>GGG		proline-rich protein BstNI subfamily 1 isoform 1							11.0	7.0	9.0					12																	11506602		1228	2194	3422	SO:0001627	intron_variant	5542					extracellular region		g.chr12:11506602T>C		CCDS8642.1, CCDS55805.1	12p13.2	2012-10-02							9337	protein-coding gene	gene with protein product		180989				8317492	Standard	NM_199353		Approved	PM, PMF, PMS, PRB1M, PRB1L	uc001qzu.1	P04280		ENST00000500254.2:c.313+121A>G	12.37:g.11506602T>C						PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron	p.G145G	NM_005039	NP_005030	P04280	PRP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	472	-			206		Missing (in clone CP-4).|Missing (in clone CP-5).|Missing (in allele S).	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].|8.		Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	Silent	SNP	ENST00000500254.2	37	c.435A>G	CCDS8642.1																																																																																				0.607	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402312.1		NM_005039		4	144	0	0	0	0.009096	0	4	144		
BCL2L14	79370	broad.mit.edu	37	12	12232321	12232321	+	Missense_Mutation	SNP	G	G	A	rs142096906		TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr12:12232321G>A	ENST00000308721.5	+	2	288	c.82G>A	c.(82-84)Gcc>Acc	p.A28T	BCL2L14_ENST00000396369.1_Missense_Mutation_p.A28T|BCL2L14_ENST00000396367.1_Missense_Mutation_p.A28T|BCL2L14_ENST00000586576.1_Missense_Mutation_p.A61T|BCL2L14_ENST00000266434.4_Missense_Mutation_p.A28T|BCL2L14_ENST00000589718.1_Missense_Mutation_p.A28T	NM_138723.1	NP_620049.1	Q9BZR8	B2L14_HUMAN	BCL2-like 14 (apoptosis facilitator)	28					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular organelle (GO:0043229)|membrane (GO:0016020)	protein kinase binding (GO:0019901)			large_intestine(1)|lung(2)|skin(3)	6		Prostate(47;0.0872)		BRCA - Breast invasive adenocarcinoma(232;0.154)		CAAAATCCTCGCCTACTACAC	0.488													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20419	0.0		0.0	False		,,,				2504	0.0					uc001rac.2		NaN																	0				skin(1)	1						c.(82-84)GCC>ACC		BCL2-like 14 isoform 1		G	THR/ALA,THR/ALA,THR/ALA	5,4401	9.9+/-24.2	0,5,2198	140.0	123.0	129.0		82,82,82	2.3	0.8	12	dbSNP_134	129	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense,missense	BCL2L14	NM_030766.1,NM_138722.1,NM_138723.1	58,58,58	0,8,6495	AA,AG,GG		0.0349,0.1135,0.0615	possibly-damaging,possibly-damaging,possibly-damaging	28/253,28/328,28/328	12232321	8,12998	2203	4300	6503	SO:0001583	missense	79370				apoptosis|regulation of apoptosis	cytosol|endomembrane system|intracellular organelle|membrane	protein binding	g.chr12:12232321G>A	AF281254	CCDS8645.1, CCDS8646.1	12p13-p12	2014-03-07			ENSG00000121380	ENSG00000121380			16657	protein-coding gene	gene with protein product		606126				11054413	Standard	NM_030766		Approved	BCLG, BCL-G	uc001rac.3	Q9BZR8	OTTHUMG00000159528	ENST00000308721.5:c.82G>A	12.37:g.12232321G>A	ENSP00000309132:p.Ala28Thr					ETV6_uc001raa.1_Intron|BCL2L14_uc001raf.1_RNA|BCL2L14_uc001rad.2_Missense_Mutation_p.A28T|BCL2L14_uc001rae.2_Missense_Mutation_p.A28T	p.A28T	NM_138723	NP_620049	Q9BZR8	B2L14_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.154)	2	283	+		Prostate(47;0.0872)	28					A8KAD0|Q96QR5|Q9BZR7	Missense_Mutation	SNP	ENST00000308721.5	37	c.82G>A	CCDS8645.1	.	.	.	.	.	.	.	.	.	.	G	6.006	0.369518	0.11352	0.001135	3.49E-4	ENSG00000121380	ENST00000464885;ENST00000461264;ENST00000308721;ENST00000266434;ENST00000396369;ENST00000396367	.	.	.	4.11	2.28	0.28536	.	0.501195	0.18906	N	0.127906	T	0.25382	0.0617	L	0.60455	1.87	0.26253	N	0.978699	B;P	0.36249	0.039;0.545	B;B	0.22386	0.017;0.039	T	0.14392	-1.0474	9	0.41790	T	0.15	-5.9829	6.022	0.19634	0.1036:0.1908:0.7057:0.0	.	28;28	Q9BZR8-2;Q9BZR8	.;B2L14_HUMAN	T	28;31;28;28;28;28	.	ENSP00000266434:A28T	A	+	1	0	BCL2L14	12123588	0.649000	0.27322	0.762000	0.31397	0.007000	0.05969	0.782000	0.26788	0.692000	0.31613	-0.222000	0.12452	GCC		0.488	BCL2L14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355994.3		NM_030766		22	29	0	0	0	0.083992	0	22	29		
PAN2	9924	broad.mit.edu	37	12	56716212	56716212	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr12:56716212C>T	ENST00000425394.2	-	19	3080	c.2704G>A	c.(2704-2706)Gat>Aat	p.D902N	PAN2_ENST00000257931.5_Missense_Mutation_p.D901N|PAN2_ENST00000549090.1_5'Flank|PAN2_ENST00000548043.1_Missense_Mutation_p.D902N|PAN2_ENST00000440411.3_Missense_Mutation_p.D898N	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	CTAACCTTATCAATAGGTTCA	0.408																																						uc001skx.2		NaN																	0				ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						c.(2704-2706)GAT>AAT		PAN2 polyA specific ribonuclease subunit homolog							94.0	89.0	90.0					12																	56716212		2203	4300	6503	SO:0001583	missense	9924				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	g.chr12:56716212C>T	AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"""Ubiquitin-specific peptidases"""	20074	protein-coding gene	gene with protein product	"""PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"""		"""ubiquitin specific protease 52"", ""ubiquitin specific peptidase 52"", ""PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.2704G>A	12.37:g.56716212C>T	ENSP00000401721:p.Asp902Asn					PAN2_uc001skw.2_Missense_Mutation_p.D50N|PAN2_uc001skz.2_Missense_Mutation_p.D901N|PAN2_uc001sky.2_Missense_Mutation_p.D898N	p.D902N	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN			19	3077	-			902						Missense_Mutation	SNP	ENST00000425394.2	37	c.2704G>A	CCDS44922.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.473542	0.63737	.	.	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043	T;T;T;T	0.05996	3.36;3.36;3.36;3.36	5.24	5.24	0.73138	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.10508	0.0257	L	0.53249	1.67	0.80722	D	1	B;B;B	0.26002	0.139;0.139;0.138	B;B;B	0.30179	0.112;0.112;0.052	T	0.09443	-1.0674	10	0.35671	T	0.21	-18.5939	17.9814	0.89143	0.0:1.0:0.0:0.0	.	901;898;902	Q504Q3-3;Q504Q3-2;Q504Q3	.;.;PAN2_HUMAN	N	902;898;901;902	ENSP00000401721:D902N;ENSP00000388231:D898N;ENSP00000257931:D901N;ENSP00000449861:D902N	ENSP00000257931:D901N	D	-	1	0	PAN2	55002479	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.909000	0.69923	2.631000	0.89168	0.305000	0.20034	GAT		0.408	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1		NM_014871		12	42	0	0	0	0.132662	0	12	42		
MTMR6	9107	broad.mit.edu	37	13	25840079	25840079	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr13:25840079C>T	ENST00000381801.5	-	5	1230	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K	MTMR6_ENST00000540661.1_Missense_Mutation_p.E157K	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	157	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|potassium ion transmembrane transport (GO:0071805)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	calcium-activated potassium channel activity (GO:0015269)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		GGGTAAGTTTCACAAATCTGT	0.353																																						uc001uqf.3		NaN																	0				ovary(2)|skin(2)	4						c.(469-471)GAA>AAA		myotubularin related protein 6							79.0	89.0	85.0					13																	25840079		2203	4300	6503	SO:0001583	missense	9107					cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr13:25840079C>T	AF072928	CCDS9313.1	13q12	2011-06-09			ENSG00000139505	ENSG00000139505		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7453	protein-coding gene	gene with protein product		603561				9736772	Standard	NM_004685		Approved		uc001uqf.4	Q9Y217	OTTHUMG00000016606	ENST00000381801.5:c.469G>A	13.37:g.25840079C>T	ENSP00000371221:p.Glu157Lys					MTMR6_uc001uqe.1_Missense_Mutation_p.E157K	p.E157K	NM_004685	NP_004676	Q9Y217	MTMR6_HUMAN		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)	5	788	-		Lung SC(185;0.0225)|Breast(139;0.0351)	157			Myotubularin phosphatase.		B2RBB5|B3KSB4|Q5JRG6|Q86TB7|Q86YH4|Q96P80	Missense_Mutation	SNP	ENST00000381801.5	37	c.469G>A	CCDS9313.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.628569	0.87560	.	.	ENSG00000139505	ENST00000540661;ENST00000541021;ENST00000381801	D;D	0.90324	-2.65;-2.65	5.59	5.59	0.84812	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.043321	0.85682	D	0.000000	D	0.90998	0.7169	L	0.39020	1.185	0.80722	D	1	P;P	0.36162	0.54;0.485	P;B	0.47206	0.541;0.229	D	0.90391	0.4395	10	0.52906	T	0.07	.	19.5935	0.95525	0.0:1.0:0.0:0.0	.	157;157	Q9Y217;Q9Y217-2	MTMR6_HUMAN;.	K	157	ENSP00000443161:E157K;ENSP00000371221:E157K	ENSP00000371221:E157K	E	-	1	0	MTMR6	24738079	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.770000	0.85390	2.647000	0.89833	0.555000	0.69702	GAA		0.353	MTMR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044225.1		NM_004685		11	17	0	0	0	0.09319	0	11	17		
AKAP11	11215	broad.mit.edu	37	13	42876628	42876628	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr13:42876628C>G	ENST00000025301.2	+	8	3921	c.3746C>G	c.(3745-3747)tCa>tGa	p.S1249*		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1249					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TTAAACCCCTCAGACGAAAAT	0.363																																						uc001uys.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(3745-3747)TCA>TGA		A-kinase anchor protein 11							65.0	69.0	68.0					13																	42876628		2203	4300	6503	SO:0001587	stop_gained	11215				intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding	g.chr13:42876628C>G	AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	369	protein-coding gene	gene with protein product	"""AKAP 220"", ""A-kinase anchoring protein, 220kDa"", ""protein kinase A anchoring protein 11"", ""protein phosphatase 1, regulatory subunit 44"""	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.3746C>G	13.37:g.42876628C>G	ENSP00000025301:p.Ser1249*						p.S1249*	NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)	8	3921	+		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)	1249					O75124|Q9NUK7	Nonsense_Mutation	SNP	ENST00000025301.2	37	c.3746C>G	CCDS9383.1	.	.	.	.	.	.	.	.	.	.	C	38	6.694350	0.97768	.	.	ENSG00000023516	ENST00000025301	.	.	.	4.88	3.12	0.35913	.	0.426946	0.20508	N	0.090944	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	12.2864	0.54795	0.0:0.8566:0.0:0.1434	.	.	.	.	X	1249	.	ENSP00000025301:S1249X	S	+	2	0	AKAP11	41774628	0.843000	0.29541	0.008000	0.14137	0.013000	0.08279	3.559000	0.53756	0.710000	0.31997	0.655000	0.94253	TCA		0.363	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2		NM_016248		16	5	0	0	0	0.038395	0	16	5		
IRS2	8660	broad.mit.edu	37	13	110436504	110436504	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr13:110436504C>T	ENST00000375856.3	-	1	2411	c.1897G>A	c.(1897-1899)Gga>Aga	p.G633R		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	633					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid homeostasis (GO:0055088)|mammary gland development (GO:0030879)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of kinase activity (GO:0033673)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mesenchymal cell proliferation (GO:0002053)|regulation of lipid metabolic process (GO:0019216)|response to glucose (GO:0009749)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			TCGATGTCTCCGTAGTCCTCT	0.711																																					Melanoma(100;613 2409 40847)	uc001vqv.2		NaN																	0				large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|skin(1)|ovary(1)|kidney(1)	8						c.(1897-1899)GGA>AGA		insulin receptor substrate 2							21.0	22.0	22.0					13																	110436504		2194	4295	6489	SO:0001583	missense	8660				fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity	g.chr13:110436504C>T	AB000732	CCDS9510.1	13q34	2013-01-10			ENSG00000185950	ENSG00000185950		"""Pleckstrin homology (PH) domain containing"""	6126	protein-coding gene	gene with protein product		600797				9312143	Standard	NM_003749		Approved		uc001vqv.3	Q9Y4H2	OTTHUMG00000017338	ENST00000375856.3:c.1897G>A	13.37:g.110436504C>T	ENSP00000365016:p.Gly633Arg						p.G633R	NM_003749	NP_003740	Q9Y4H2	IRS2_HUMAN	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)		1	2411	-	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	633					Q96RR2|Q9BZG0|Q9Y6I5	Missense_Mutation	SNP	ENST00000375856.3	37	c.1897G>A	CCDS9510.1	.	.	.	.	.	.	.	.	.	.	C	7.488	0.650163	0.14516	.	.	ENSG00000185950	ENST00000375856	T	0.18174	2.23	4.05	4.05	0.47172	.	0.340175	0.29587	U	0.011737	T	0.15132	0.0365	L	0.59436	1.845	0.44042	D	0.996779	P	0.51240	0.943	B	0.35727	0.209	T	0.07195	-1.0785	10	0.34782	T	0.22	-6.8744	12.4191	0.55510	0.1685:0.8315:0.0:0.0	.	633	Q9Y4H2	IRS2_HUMAN	R	633	ENSP00000365016:G633R	ENSP00000365016:G633R	G	-	1	0	IRS2	109234505	0.000000	0.05858	0.931000	0.37212	0.819000	0.46315	-0.183000	0.09712	2.072000	0.62099	0.549000	0.68633	GGA		0.711	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045755.1		NM_003749		5	5	0	0	0	0.047766	0	5	5		
HOMEZ	57594	broad.mit.edu	37	14	23746018	23746018	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr14:23746018G>T	ENST00000357460.5	-	2	583	c.419C>A	c.(418-420)tCt>tAt	p.S140Y	HOMEZ_ENST00000561013.1_Missense_Mutation_p.S142Y|HOMEZ_ENST00000431326.2_Missense_Mutation_p.S142Y	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	140					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		ATGAGTAAAAGAGAGAAGGGA	0.537																																						uc001wja.2		NaN																	0					0						c.(418-420)TCT>TAT		homeodomain leucine zipper protein							128.0	129.0	129.0					14																	23746018		1882	4102	5984	SO:0001583	missense	57594					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:23746018G>T	AB037864	CCDS45085.1	14q11.2	2011-06-20	2007-02-15	2007-02-15		ENSG00000215271		"""Homeoboxes / ZF class"""	20164	protein-coding gene	gene with protein product		608119	"""KIAA1443"""	KIAA1443		12925734	Standard	NM_020834		Approved		uc001wja.2	Q8IX15		ENST00000357460.5:c.419C>A	14.37:g.23746018G>T	ENSP00000350049:p.Ser140Tyr					HOMEZ_uc001wjb.2_Missense_Mutation_p.S142Y	p.S140Y	NM_020834	NP_065885	Q8IX15	HOMEZ_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	2	567	-	all_cancers(95;5.54e-06)		140					A1L445|B4DZ80|F8WCA3|Q6P049|Q86XB6|Q9P2A5	Missense_Mutation	SNP	ENST00000357460.5	37	c.419C>A	CCDS45085.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.769159	0.69992	.	.	ENSG00000215271	ENST00000357460;ENST00000431326	T;T	0.35236	1.32;1.32	6.17	6.17	0.99709	.	0.127692	0.53938	D	0.000052	T	0.48786	0.1519	L	0.32530	0.975	0.47441	D	0.999423	D;D	0.63880	0.993;0.989	P;P	0.59487	0.858;0.726	T	0.37197	-0.9716	10	0.62326	D	0.03	-11.1822	19.6509	0.95805	0.0:0.0:1.0:0.0	.	142;140	F8WCA3;Q8IX15	.;HOMEZ_HUMAN	Y	140;142	ENSP00000350049:S140Y;ENSP00000406579:S142Y	ENSP00000350049:S140Y	S	-	2	0	HOMEZ	22815858	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.458000	0.60095	2.941000	0.99782	0.655000	0.94253	TCT		0.537	HOMEZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000416939.2		NM_020834		34	89	1	0	1.58521e-26	0.080422	1.80253e-26	34	89		
TGM1	7051	broad.mit.edu	37	14	24731538	24731538	+	Silent	SNP	G	G	A	rs150913268		TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr14:24731538G>A	ENST00000206765.6	-	2	144	c.21C>T	c.(19-21)tcC>tcT	p.S7S	TGM1_ENST00000544573.1_5'UTR	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	7	Membrane anchorage region.				cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|organ morphogenesis (GO:0009887)|peptide cross-linking (GO:0018149)	cell-cell adherens junction (GO:0005913)|cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|intrinsic component of membrane (GO:0031224)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	GGCCCACATCGGAACGTGGCC	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		17865	0.001		0.0	False		,,,				2504	0.0					uc001wod.2		NaN																	0				central_nervous_system(2)|ovary(1)	3						c.(19-21)TCC>TCT		transglutaminase 1	L-Glutamine(DB00130)						51.0	43.0	46.0					14																	24731538		2203	4300	6503	SO:0001819	synonymous_variant	7051				cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity	g.chr14:24731538G>A	D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	2.3.2.13	"""Transglutaminases"""	11777	protein-coding gene	gene with protein product	"""K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"""	190195	"""transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)"""	ICR2		11390390	Standard	NM_000359		Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.21C>T	14.37:g.24731538G>A						TGM1_uc010tog.1_5'UTR	p.S7S	NM_000359	NP_000350	P22735	TGM1_HUMAN		GBM - Glioblastoma multiforme(265;0.0186)	2	145	-			7			Membrane anchorage region.		B4DWR7|Q197M4	Silent	SNP	ENST00000206765.6	37	c.21C>T	CCDS9622.1																																																																																				0.632	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073160.6		NM_000359		15	47	0	0	0	0.146539	0	15	47		
GNPNAT1	64841	broad.mit.edu	37	14	53251332	53251332	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr14:53251332G>C	ENST00000216410.3	-	2	224	c.37C>G	c.(37-39)Cta>Gta	p.L13V	GNPNAT1_ENST00000554230.1_Intron|RN7SL588P_ENST00000583393.1_RNA	NM_198066.3	NP_932332.1	Q96EK6	GNA1_HUMAN	glucosamine-phosphate N-acetyltransferase 1	13					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|glucosamine metabolic process (GO:0006041)|liver development (GO:0001889)|N-acetylglucosamine metabolic process (GO:0006044)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|membrane (GO:0016020)	glucosamine 6-phosphate N-acetyltransferase activity (GO:0004343)|monosaccharide binding (GO:0048029)			liver(1)|lung(1)|prostate(1)|skin(1)	4	Breast(41;0.176)					TCTTTGAGTAGACTTGGGTCA	0.363																																						uc001xab.2		NaN																	0					0						c.(37-39)CTA>GTA		glucosamine-phosphate N-acetyltransferase 1							57.0	54.0	55.0					14																	53251332		2203	4300	6503	SO:0001583	missense	64841				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|endosome membrane|Golgi membrane	glucosamine 6-phosphate N-acetyltransferase activity	g.chr14:53251332G>C	AK001469	CCDS9712.1	14q22.1	2011-11-16			ENSG00000100522	ENSG00000100522	2.3.1.4		19980	protein-coding gene	gene with protein product							Standard	NM_198066		Approved	Gpnat1, FLJ10607	uc001xab.3	Q96EK6	OTTHUMG00000152334	ENST00000216410.3:c.37C>G	14.37:g.53251332G>C	ENSP00000216410:p.Leu13Val						p.L13V	NM_198066	NP_932332	Q96EK6	GNA1_HUMAN			2	292	-	Breast(41;0.176)		13						Missense_Mutation	SNP	ENST00000216410.3	37	c.37C>G	CCDS9712.1	.	.	.	.	.	.	.	.	.	.	G	13.00	2.105994	0.37145	.	.	ENSG00000100522	ENST00000216410;ENST00000557604	.	.	.	5.68	3.85	0.44370	.	0.059900	0.64402	D	0.000002	T	0.53932	0.1827	L	0.60904	1.88	0.80722	D	1	B	0.14438	0.01	B	0.18263	0.021	T	0.47368	-0.9123	9	0.30078	T	0.28	-7.654	7.7845	0.29085	0.1461:0.0:0.7146:0.1393	.	13	Q96EK6	GNA1_HUMAN	V	13	.	ENSP00000216410:L13V	L	-	1	2	GNPNAT1	52321082	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.356000	0.44116	0.853000	0.35312	0.591000	0.81541	CTA		0.363	GNPNAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276898.1				13	18	0	0	0	0.038395	0	13	18		
SMOC1	64093	broad.mit.edu	37	14	70418941	70418941	+	Silent	SNP	C	C	A			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr14:70418941C>A	ENST00000381280.4	+	2	439	c.186C>A	c.(184-186)tcC>tcA	p.S62S	SMOC1_ENST00000361956.3_Silent_p.S62S|SMOC1_ENST00000555917.1_3'UTR	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	62	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|eye development (GO:0001654)|limb development (GO:0060173)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of osteoblast differentiation (GO:0045667)|signal transduction (GO:0007165)	basement membrane (GO:0005604)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		ATGGCAGGTCCTACGAGTCCA	0.562																																						uc001xls.1		NaN																	0				upper_aerodigestive_tract(1)|pancreas(1)	2						c.(184-186)TCC>TCA		secreted modular calcium-binding protein 1							139.0	122.0	128.0					14																	70418941		2203	4300	6503	SO:0001819	synonymous_variant	64093				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding	g.chr14:70418941C>A	AJ249900	CCDS9798.1, CCDS32110.1	14q24.1	2010-08-05			ENSG00000198732	ENSG00000198732			20318	protein-coding gene	gene with protein product		608488				12130637	Standard	NM_001034852		Approved		uc001xlt.2	Q9H4F8		ENST00000381280.4:c.186C>A	14.37:g.70418941C>A						SMOC1_uc001xlt.1_Silent_p.S62S	p.S62S	NM_022137	NP_071420	Q9H4F8	SMOC1_HUMAN		all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)	2	439	+			62			Kazal-like.		A8K1S3|B2R7P5|Q96F78	Silent	SNP	ENST00000381280.4	37	c.186C>A	CCDS9798.1																																																																																				0.562	SMOC1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000412467.1				32	75	1	0	9.62906e-15	0.086207	1.07754e-14	32	75		
ADAM20	8748	broad.mit.edu	37	14	70991613	70991613	+	Silent	SNP	G	G	A			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr14:70991613G>A	ENST00000256389.3	-	2	256	c.12C>T	c.(10-12)ctC>ctT	p.L4L	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	0					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		TGTCCTGGTGGAGCTGGACCA	0.522																																						uc001xme.2		NaN																	0				skin(1)	1						c.(10-12)CTC>CTT		ADAM metallopeptidase domain 20 preproprotein							113.0	98.0	103.0					14																	70991613		2197	4286	6483	SO:0001819	synonymous_variant	8748				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70991613G>A	AF029899	CCDS32111.1	14q24.2	2012-04-30	2005-08-18		ENSG00000134007	ENSG00000134007		"""ADAM metallopeptidase domain containing"""	199	protein-coding gene	gene with protein product		603712	"""a disintegrin and metalloproteinase domain 20"""			9469942	Standard	NM_003814		Approved		uc001xme.3	O43506	OTTHUMG00000167548	ENST00000256389.3:c.12C>T	14.37:g.70991613G>A							p.L4L	NM_003814	NP_003805	O43506	ADA20_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)	2	257	-			Error:Variant_position_missing_in_O43506_after_alignment					Q6GTZ1|Q9UKJ9	Silent	SNP	ENST00000256389.3	37	c.12C>T	CCDS32111.1																																																																																				0.522	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395004.2				67	46	0	0	0	0.139131	0	67	46		
MTA1	9112	broad.mit.edu	37	14	105936438	105936438	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr14:105936438G>C	ENST00000331320.7	+	21	2248	c.2034G>C	c.(2032-2034)aaG>aaC	p.K678N	MTA1_ENST00000435036.2_Missense_Mutation_p.K218N|MTA1_ENST00000406191.1_Missense_Mutation_p.K666N|RP11-521B24.5_ENST00000552675.1_RNA|MTA1_ENST00000405646.1_Missense_Mutation_p.K661N|CRIP2_ENST00000483017.3_5'Flank	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	678					circadian regulation of gene expression (GO:0032922)|double-strand break repair (GO:0006302)|entrainment of circadian clock by photoperiod (GO:0043153)|locomotor rhythm (GO:0045475)|positive regulation of protein autoubiquitination (GO:1902499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression, epigenetic (GO:0040029)|regulation of inflammatory response (GO:0050727)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|secretory granule organization (GO:0033363)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		CGGAAACCAAGCGTGCTGCCC	0.716																																						uc001yqx.2		NaN																	0				breast(1)|central_nervous_system(1)	2						c.(2032-2034)AAG>AAC		metastasis associated protein							56.0	46.0	49.0					14																	105936438		2198	4294	6492	SO:0001583	missense	9112				signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:105936438G>C	U35113	CCDS32169.1, CCDS55954.1	14q32.33	2013-01-25			ENSG00000182979	ENSG00000182979		"""GATA zinc finger domain containing"""	7410	protein-coding gene	gene with protein product		603526				8083195, 7607577	Standard	NM_004689		Approved		uc001yqx.3	Q13330	OTTHUMG00000150362	ENST00000331320.7:c.2034G>C	14.37:g.105936438G>C	ENSP00000333633:p.Lys678Asn					MTA1_uc001yqy.2_RNA|MTA1_uc001yrb.2_Missense_Mutation_p.K443N|CRIP2_uc010tyr.1_5'Flank|CRIP2_uc001yrc.2_5'Flank	p.K678N	NM_004689	NP_004680	Q13330	MTA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)	21	2221	+		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	678					A5PLK4|Q86SW2|Q8NFI8|Q96GI8	Missense_Mutation	SNP	ENST00000331320.7	37	c.2034G>C	CCDS32169.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.0|26.0	4.690306|4.690306	0.88735|0.88735	.|.	.|.	ENSG00000182979|ENSG00000182979	ENST00000494981|ENST00000414153;ENST00000331320;ENST00000406191;ENST00000405646;ENST00000434050;ENST00000435036;ENST00000426567	.|T;T;T;T;T;T	.|0.52983	.|1.35;1.31;1.34;1.36;0.75;0.64	4.88|4.88	4.88|4.88	0.63580|0.63580	.|.	.|0.119374	.|0.56097	.|D	.|0.000024	T|T	0.39545|0.39545	0.1082|0.1082	N|N	0.22421|0.22421	0.69|0.69	0.58432|0.58432	D|D	0.999992|0.999992	.|P;P	.|0.46706	.|0.611;0.883	.|B;B	.|0.42851	.|0.075;0.4	T|T	0.46062|0.46062	-0.9218|-0.9218	5|10	.|0.87932	.|D	.|0	-30.6793|-30.6793	16.5695|16.5695	0.84607|0.84607	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|474;678	.|Q59FW1;Q13330	.|.;MTA1_HUMAN	P|N	105|591;678;666;661;474;218;90	.|ENSP00000333633:K678N;ENSP00000385702:K666N;ENSP00000384180:K661N;ENSP00000394106:K474N;ENSP00000389425:K218N;ENSP00000395371:K90N	.|ENSP00000333633:K678N	A|K	+|+	1|3	0|2	MTA1|MTA1	105007483|105007483	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.950000|0.950000	0.60333|0.60333	1.906000|1.906000	0.39887|0.39887	2.272000|2.272000	0.75746|0.75746	0.491000|0.491000	0.48974|0.48974	GCG|AAG		0.716	MTA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317849.15				21	48	0	0	0	0.116897	0	21	48		
HERC2	8924	broad.mit.edu	37	15	28458889	28458889	+	Splice_Site	SNP	G	G	A			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr15:28458889G>A	ENST00000261609.7	-	42	6893	c.6785C>T	c.(6784-6786)cCa>cTa	p.P2262L		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TTCACCTACTGGTTTCAGCTG	0.478																																						uc001zbj.2		NaN																	0				ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(6784-6786)CCA>CTA		hect domain and RLD 2							57.0	57.0	57.0					15																	28458889		2203	4296	6499	SO:0001630	splice_region_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28458889G>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.6786+1C>T	15.37:g.28458889G>A							p.P2262L	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	42	6891	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	2262						Missense_Mutation	SNP	ENST00000261609.7	37	c.6785C>T	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.196533	0.38806	.	.	ENSG00000128731	ENST00000261609	T	0.37915	1.17	5.31	4.4	0.53042	.	0.308748	0.35436	N	0.003201	T	0.32164	0.0820	L	0.47716	1.5	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.07829	-1.0752	10	0.31617	T	0.26	.	13.821	0.63320	0.0732:0.0:0.9268:0.0	.	2262	O95714	HERC2_HUMAN	L	2262	ENSP00000261609:P2262L	ENSP00000261609:P2262L	P	-	2	0	HERC2	26132484	1.000000	0.71417	0.989000	0.46669	0.460000	0.32559	9.238000	0.95380	1.476000	0.48215	0.484000	0.47621	CCA		0.478	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2		NM_004667	Missense_Mutation	14	22	0	0	0	0.146539	0	14	22		
MYO5A	4644	broad.mit.edu	37	15	52632551	52632551	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr15:52632551C>T	ENST00000399231.3	-	32	4324	c.4081G>A	c.(4081-4083)Gag>Aag	p.E1361K	MYO5A_ENST00000553916.1_Missense_Mutation_p.E1334K|MYO5A_ENST00000399233.2_Missense_Mutation_p.E1358K|MYO5A_ENST00000358212.6_Missense_Mutation_p.E1361K|MYO5A_ENST00000356338.6_Missense_Mutation_p.E1334K	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1361					actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GCCTCATTCTCATGGCTCCTC	0.632																																						uc002aby.2		NaN																	0				ovary(3)|central_nervous_system(1)	4						c.(4081-4083)GAG>AAG		myosin VA isoform 1							67.0	68.0	68.0					15																	52632551		1926	4122	6048	SO:0001583	missense	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52632551C>T		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.4081G>A	15.37:g.52632551C>T	ENSP00000382177:p.Glu1361Lys					MYO5A_uc002abx.3_Missense_Mutation_p.E1334K|MYO5A_uc010ugd.1_Missense_Mutation_p.E83K|MYO5A_uc002abz.1_RNA|MYO5A_uc002aca.1_Missense_Mutation_p.E113K|MYO5A_uc002acb.1_Missense_Mutation_p.E86K|MYO5A_uc002acc.1_Missense_Mutation_p.E110K	p.E1361K	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	32	4325	-			1361			Potential.		A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	ENST00000399231.3	37	c.4081G>A	CCDS42037.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.850841	0.71719	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916;ENST00000399228	T;T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01;2.01	6.03	6.03	0.97812	.	0.099061	0.64402	D	0.000002	T	0.17874	0.0429	N	0.19112	0.55	0.53005	D	0.999965	B;P;B;B;B	0.44429	0.002;0.835;0.218;0.0;0.019	B;B;B;B;B	0.42522	0.006;0.39;0.075;0.0;0.022	T	0.03315	-1.1049	10	0.12430	T	0.62	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	91;151;154;1361;1334	B5LY56;Q9UES5;O95317;Q9Y4I1;Q9Y4I1-2	.;.;.;MYO5A_HUMAN;.	K	1361;868;1358;1334;1361;964;1334;151	ENSP00000382177:E1361K;ENSP00000382179:E1358K;ENSP00000348693:E1334K;ENSP00000350945:E1361K;ENSP00000451109:E1334K;ENSP00000382174:E151K	ENSP00000348693:E1334K	E	-	1	0	MYO5A	50419843	0.959000	0.32827	0.995000	0.50966	0.995000	0.86356	2.406000	0.44557	2.861000	0.98227	0.655000	0.94253	GAG		0.632	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1		NM_000259		55	411	0	0	0	0.139131	0	55	411		
CACNG3	10368	broad.mit.edu	37	16	24268126	24268126	+	Silent	SNP	C	C	T			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr16:24268126C>T	ENST00000005284.3	+	1	1253	c.51C>T	c.(49-51)gcC>gcT	p.A17A		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	17					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CTGTAGGAGCCTTTGCCGCTT	0.473																																						uc002dmf.2		NaN																	0					0						c.(49-51)GCC>GCT		voltage-dependent calcium channel gamma-3							199.0	198.0	199.0					16																	24268126		2197	4300	6497	SO:0001819	synonymous_variant	10368				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr16:24268126C>T	AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"""Calcium channel subunits"""	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.51C>T	16.37:g.24268126C>T							p.A17A	NM_006539	NP_006530	O60359	CCG3_HUMAN		GBM - Glioblastoma multiforme(48;0.0809)	1	1251	+			17			Helical; (Potential).			Silent	SNP	ENST00000005284.3	37	c.51C>T	CCDS10620.1																																																																																				0.473	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254548.1		NM_006539		17	801	0	0	0	0.043863	0	17	801		
SEZ6L2	26470	broad.mit.edu	37	16	29883848	29883848	+	Splice_Site	SNP	C	C	G			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr16:29883848C>G	ENST00000308713.5	-	15	3016		c.e15-1		SEZ6L2_ENST00000346932.5_Splice_Site|SEZ6L2_ENST00000537485.1_Splice_Site|SEZ6L2_ENST00000350527.3_Splice_Site	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2						adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTCTGGGTCACTACAGGAGGA	0.657																																						uc002duq.3		NaN																	0				ovary(1)|skin(1)	2						c.e15-1		seizure related 6 homolog (mouse)-like 2 isoform							63.0	72.0	69.0					16																	29883848		2197	4300	6497	SO:0001630	splice_region_variant	26470					endoplasmic reticulum membrane|integral to membrane|plasma membrane		g.chr16:29883848C>G	AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"""type I transmembrane receptor (seizure related protein)"""					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.2489-1G>C	16.37:g.29883848C>G						uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Splice_Site_p.V773_splice|SEZ6L2_uc002dur.3_Splice_Site_p.V760_splice|SEZ6L2_uc002dus.3_Splice_Site_p.V729_splice|SEZ6L2_uc010vec.1_Splice_Site_p.V843_splice|SEZ6L2_uc010ved.1_Splice_Site_p.V799_splice	p.V830_splice	NM_201575	NP_963869	Q6UXD5	SE6L2_HUMAN			15	2729	-								B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Splice_Site	SNP	ENST00000308713.5	37	c.2489_splice	CCDS10659.1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.826321	0.71143	.	.	ENSG00000174938	ENST00000350527;ENST00000308713;ENST00000346932;ENST00000537485	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6625	0.88196	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SEZ6L2	29791349	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	3.704000	0.54815	2.465000	0.83290	0.655000	0.94253	.		0.657	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2		NM_012410	Intron	15	64	0	0	0	0.062417	0	15	64		
DOC2A	8448	broad.mit.edu	37	16	30018508	30018508	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr16:30018508C>T	ENST00000350119.4	-	6	830	c.640G>A	c.(640-642)Gag>Aag	p.E214K	DOC2A_ENST00000564944.1_Missense_Mutation_p.E214K|DOC2A_ENST00000564979.1_Missense_Mutation_p.E214K	NM_001282062.1|NM_001282063.1|NM_001282068.1|NM_003586.2	NP_001268991.1|NP_001268992.1|NP_001268997.1|NP_003577.2	Q14183	DOC2A_HUMAN	double C2-like domains, alpha	214					nervous system development (GO:0007399)|regulation of calcium ion-dependent exocytosis (GO:0017158)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|lysosome (GO:0005764)|membrane (GO:0016020)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)	9						ACCTGGCGCTCGAGGCAGATG	0.627																																						uc002dvm.2		NaN																	0				ovary(2)	2						c.(640-642)GAG>AAG		double C2-like domains, alpha							35.0	37.0	36.0					16																	30018508		2197	4300	6497	SO:0001583	missense	8448				nervous system development|regulation of calcium ion-dependent exocytosis	cell junction|lysosome|synaptic vesicle membrane|synaptosome	calcium-dependent phospholipid binding|protein binding|transporter activity	g.chr16:30018508C>T	D31897	CCDS10666.1	16p11.2	2014-07-02			ENSG00000149927	ENSG00000149927		"""Synaptotagmins"""	2985	protein-coding gene	gene with protein product		604567				7826360, 9736751	Standard	NM_003586		Approved		uc002dvn.3	Q14183	OTTHUMG00000132109	ENST00000350119.4:c.640G>A	16.37:g.30018508C>T	ENSP00000340017:p.Glu214Lys					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|DOC2A_uc002dvl.2_Missense_Mutation_p.E214K|DOC2A_uc002dvn.2_Missense_Mutation_p.E214K|DOC2A_uc010vef.1_RNA|DOC2A_uc002dvo.2_Missense_Mutation_p.E214K|DOC2A_uc002dvp.2_Missense_Mutation_p.E214K|DOC2A_uc002dvq.2_Missense_Mutation_p.E214K	p.E214K	NM_003586	NP_003577	Q14183	DOC2A_HUMAN			6	740	-			214					B4DEJ2|H3BNH6|Q6P4G4|Q7Z5G0|Q8IVX0	Missense_Mutation	SNP	ENST00000350119.4	37	c.640G>A	CCDS10666.1	.	.	.	.	.	.	.	.	.	.	C	31	5.074925	0.94000	.	.	ENSG00000149927	ENST00000350119	T	0.38560	1.13	5.14	5.14	0.70334	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.53938	D	0.000041	T	0.65069	0.2656	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.68765	0.96	T	0.68322	-0.5439	10	0.59425	D	0.04	.	16.433	0.83860	0.0:1.0:0.0:0.0	.	214	Q14183	DOC2A_HUMAN	K	214	ENSP00000340017:E214K	ENSP00000340017:E214K	E	-	1	0	DOC2A	29926009	1.000000	0.71417	0.998000	0.56505	0.962000	0.63368	7.459000	0.80802	2.552000	0.86080	0.491000	0.48974	GAG		0.627	DOC2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255148.2		NM_003586		9	229	0	0	0	0.09319	0	9	229		
ZNF768	79724	broad.mit.edu	37	16	30536523	30536523	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr16:30536523C>T	ENST00000380412.5	-	2	1113	c.938G>A	c.(937-939)gGc>gAc	p.G313D	ZNF768_ENST00000562803.1_Missense_Mutation_p.G282D	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	313					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	DNA-directed RNA polymerase II, core complex (GO:0005665)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GGGCCGCTCGCCAGTGTGGGT	0.607																																						uc002dyk.3		NaN																	0					0						c.(937-939)GGC>GAC		zinc finger protein 768							75.0	75.0	75.0					16																	30536523		2197	4300	6497	SO:0001583	missense	79724				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding	g.chr16:30536523C>T	BC013760	CCDS10681.2	16p11.2	2013-01-08			ENSG00000169957	ENSG00000169957		"""Zinc fingers, C2H2-type"""	26273	protein-coding gene	gene with protein product						12477932	Standard	NM_024671		Approved	FLJ23436	uc002dyk.4	Q9H5H4	OTTHUMG00000132392	ENST00000380412.5:c.938G>A	16.37:g.30536523C>T	ENSP00000369777:p.Gly313Asp					ZNF768_uc010vex.1_Missense_Mutation_p.G282D|uc002dyl.1_5'Flank|ZNF768_uc010vew.1_Missense_Mutation_p.G282D	p.G313D	NM_024671	NP_078947	Q9H5H4	ZN768_HUMAN			2	1114	-			313					Q569L7|Q96CX4	Missense_Mutation	SNP	ENST00000380412.5	37	c.938G>A	CCDS10681.2	.	.	.	.	.	.	.	.	.	.	C	17.11	3.306181	0.60305	.	.	ENSG00000169957	ENST00000380412	T	0.01599	4.74	4.7	4.7	0.59300	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45126	D	0.000400	T	0.06280	0.0162	L	0.33668	1.02	0.40320	D	0.978816	D	0.89917	1.0	D	0.97110	1.0	T	0.42531	-0.9446	10	0.87932	D	0	-14.0911	16.5574	0.84490	0.0:1.0:0.0:0.0	.	313	Q9H5H4	ZN768_HUMAN	D	313	ENSP00000369777:G313D	ENSP00000369777:G313D	G	-	2	0	ZNF768	30444024	0.797000	0.28877	0.995000	0.50966	0.865000	0.49528	2.498000	0.45363	2.448000	0.82819	0.407000	0.27541	GGC		0.607	ZNF768-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255522.2		NM_024671		14	49	0	0	0	0.038395	0	14	49		
ZNF768	79724	broad.mit.edu	37	16	30537018	30537018	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr16:30537018C>A	ENST00000380412.5	-	2	618	c.443G>T	c.(442-444)aGa>aTa	p.R148I	ZNF768_ENST00000562803.1_Missense_Mutation_p.R117I	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	148					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	DNA-directed RNA polymerase II, core complex (GO:0005665)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GGATTCATATCTAGAGCTCTC	0.527																																						uc002dyk.3		NaN																	0					0						c.(442-444)AGA>ATA		zinc finger protein 768							78.0	83.0	81.0					16																	30537018		2197	4300	6497	SO:0001583	missense	79724				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding	g.chr16:30537018C>A	BC013760	CCDS10681.2	16p11.2	2013-01-08			ENSG00000169957	ENSG00000169957		"""Zinc fingers, C2H2-type"""	26273	protein-coding gene	gene with protein product						12477932	Standard	NM_024671		Approved	FLJ23436	uc002dyk.4	Q9H5H4	OTTHUMG00000132392	ENST00000380412.5:c.443G>T	16.37:g.30537018C>A	ENSP00000369777:p.Arg148Ile					ZNF768_uc010vex.1_Missense_Mutation_p.R117I|uc002dyl.1_5'Flank|ZNF768_uc010vew.1_Missense_Mutation_p.R117I	p.R148I	NM_024671	NP_078947	Q9H5H4	ZN768_HUMAN			2	619	-			148					Q569L7|Q96CX4	Missense_Mutation	SNP	ENST00000380412.5	37	c.443G>T	CCDS10681.2	.	.	.	.	.	.	.	.	.	.	C	3.871	-0.027899	0.07589	.	.	ENSG00000169957	ENST00000380412;ENST00000538507	T	0.07327	3.2	3.94	-0.207	0.13189	.	0.663930	0.13264	N	0.401086	T	0.04048	0.0113	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44682	-0.9312	10	0.18276	T	0.48	5.5795	2.9843	0.05963	0.1947:0.4842:0.0:0.3211	.	148	Q9H5H4	ZN768_HUMAN	I	148;117	ENSP00000369777:R148I	ENSP00000369777:R148I	R	-	2	0	ZNF768	30444519	0.000000	0.05858	0.001000	0.08648	0.231000	0.25187	0.369000	0.20416	0.004000	0.14682	0.561000	0.74099	AGA		0.527	ZNF768-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255522.2		NM_024671		22	77	1	0	8.10497e-08	0.055883	8.72367e-08	22	77		
ZNF768	79724	broad.mit.edu	37	16	30537349	30537349	+	Missense_Mutation	SNP	C	C	T	rs370495340		TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr16:30537349C>T	ENST00000380412.5	-	2	287	c.112G>A	c.(112-114)Gag>Aag	p.E38K	ZNF747_ENST00000569360.1_3'UTR|ZNF747_ENST00000535210.1_3'UTR|ZNF768_ENST00000562803.1_Missense_Mutation_p.E7K	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	38	Poly-Glu.				regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	DNA-directed RNA polymerase II, core complex (GO:0005665)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						gaaatttcctctTCCTCATTC	0.507																																						uc002dyk.3		NaN																	0					0						c.(112-114)GAG>AAG		zinc finger protein 768		C	LYS/GLU	0,4394		0,0,2197	118.0	116.0	117.0		112	3.6	1.0	16		117	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF768	NM_024671.3	56	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	benign	38/541	30537349	1,12993	2197	4300	6497	SO:0001583	missense	79724				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding	g.chr16:30537349C>T	BC013760	CCDS10681.2	16p11.2	2013-01-08			ENSG00000169957	ENSG00000169957		"""Zinc fingers, C2H2-type"""	26273	protein-coding gene	gene with protein product						12477932	Standard	NM_024671		Approved	FLJ23436	uc002dyk.4	Q9H5H4	OTTHUMG00000132392	ENST00000380412.5:c.112G>A	16.37:g.30537349C>T	ENSP00000369777:p.Glu38Lys					ZNF768_uc010vex.1_Missense_Mutation_p.E7K|uc002dyl.1_5'Flank|ZNF768_uc010vew.1_Missense_Mutation_p.E7K	p.E38K	NM_024671	NP_078947	Q9H5H4	ZN768_HUMAN			2	288	-			38			Poly-Glu.		Q569L7|Q96CX4	Missense_Mutation	SNP	ENST00000380412.5	37	c.112G>A	CCDS10681.2	.	.	.	.	.	.	.	.	.	.	C	13.91	2.377883	0.42105	0.0	1.16E-4	ENSG00000169957	ENST00000380412;ENST00000538507	T	0.07114	3.22	3.58	3.58	0.41010	.	0.146689	0.31589	N	0.007385	T	0.04407	0.0121	N	0.14661	0.345	0.80722	D	1	D	0.53885	0.963	P	0.44518	0.452	T	0.48364	-0.9042	10	0.12430	T	0.62	-3.9675	5.2759	0.15649	0.0:0.6768:0.2111:0.1121	.	38	Q9H5H4	ZN768_HUMAN	K	38;7	ENSP00000369777:E38K	ENSP00000369777:E38K	E	-	1	0	ZNF768	30444850	0.031000	0.19500	1.000000	0.80357	0.994000	0.84299	1.330000	0.33781	2.287000	0.76781	0.561000	0.74099	GAG		0.507	ZNF768-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255522.2		NM_024671		29	139	0	0	0	0.080422	0	29	139		
ZNF747	65988	broad.mit.edu	37	16	30545884	30545884	+	Silent	SNP	G	G	A			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr16:30545884G>A	ENST00000252799.3	-	1	784	c.117C>T	c.(115-117)ttC>ttT	p.F39F	ZNF747_ENST00000569360.1_Silent_p.F39F|AC002310.13_ENST00000568114.1_Intron|ZNF747_ENST00000535210.1_Silent_p.F39F|AC002310.12_ENST00000457283.3_RNA|ZNF747_ENST00000568028.1_Silent_p.F39F|ZNF747_ENST00000395094.3_Silent_p.F39F|AC002310.12_ENST00000569752.1_RNA	NM_023931.2	NP_076420.1	Q9BV97	ZN747_HUMAN	zinc finger protein 747	39	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)			kidney(1)|lung(3)|prostate(1)	5						CCACGTCGGCGAAGCTCACGG	0.731																																						uc002dyn.2		NaN																	0					0						c.(115-117)TTC>TTT		zinc finger protein 747							12.0	15.0	14.0					16																	30545884		2181	4283	6464	SO:0001819	synonymous_variant	65988				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding	g.chr16:30545884G>A	BC001361	CCDS10682.1	16p11.2	2013-01-08			ENSG00000169955	ENSG00000169955		"""Zinc fingers, C2H2-type"", ""-"""	28350	protein-coding gene	gene with protein product						10493829	Standard	NM_023931		Approved	MGC2474	uc002dyn.3	Q9BV97	OTTHUMG00000132401	ENST00000252799.3:c.117C>T	16.37:g.30545884G>A						ZNF768_uc010vex.1_5'UTR|ZNF747_uc002dyo.1_Silent_p.F39F|ZNF747_uc010vey.1_Silent_p.F39F|uc002dyp.1_5'Flank	p.F39F	NM_023931	NP_076420	Q9BV97	ZN747_HUMAN			1	311	-			39			KRAB.		A8K827|B7WNU3|Q59FB4|Q96NW0	Silent	SNP	ENST00000252799.3	37	c.117C>T	CCDS10682.1																																																																																				0.731	ZNF747-001	KNOWN	NAGNAG_splice_site|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255532.2		NM_023931		5	10	0	0	0	0.047766	0	5	10		
ABCC11	85320	broad.mit.edu	37	16	48234386	48234387	+	Nonsense_Mutation	DNP	CC	CC	TA			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr16:48234386_48234387CC>TA	ENST00000394747.1	-	14	2231_2232	c.1882_1883GG>TA	c.(1882-1884)GGa>TAa	p.G628*	ABCC11_ENST00000356608.2_Nonsense_Mutation_p.G628*|ABCC11_ENST00000537808.1_Nonsense_Mutation_p.G628*|ABCC11_ENST00000394748.1_Nonsense_Mutation_p.G628*|ABCC11_ENST00000353782.5_Nonsense_Mutation_p.G628*	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	628	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	GCCCCGCTCTCCAATCTGCAGA	0.594																																						uc002eff.1		NaN																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1882-1884)GGA>TAA		ATP-binding cassette, sub-family C, member 11																																				SO:0001587	stop_gained	85320	Cerumen_Type				integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48234386_48234387CC>TA	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.1882_1883delinsTA	16.37:g.48234386_48234387delinsTA	ENSP00000378230:p.Gly628*					ABCC11_uc002efg.1_Nonsense_Mutation_p.G628*|ABCC11_uc002efh.1_Nonsense_Mutation_p.G628*|ABCC11_uc010vgk.1_RNA	p.G628*	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN			14	2232_2233	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	628			ABC transporter 1.|Cytoplasmic (Potential).		Q8TDJ0|Q96JA6|Q9BX80	Nonsense_Mutation	DNP	ENST00000394747.1	37	c.1882_1883GG>TA	CCDS10732.1																																																																																				0.594	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1		NM_032583		6	47	0	0	0	0.115264	0	6	47		
CDH13	1012	broad.mit.edu	37	16	83711918	83711918	+	Missense_Mutation	SNP	G	G	A	rs200591230		TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr16:83711918G>A	ENST00000566620.1	+	10	1680	c.1390G>A	c.(1390-1392)Gtc>Atc	p.V464I	CDH13_ENST00000428848.3_Missense_Mutation_p.V425I|CDH13_ENST00000268613.10_Missense_Mutation_p.V511I	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	464	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CACAGCCACCGTCCACATCAC	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		18699	0.0		0.001	False		,,,				2504	0.0					uc002fgx.2		NaN																	0				large_intestine(1)	1						c.(1390-1392)GTC>ATC		cadherin 13 preproprotein		G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,4202		0,0,2101	87.0	94.0	91.0		1531,1273,628,1390	3.8	1.0	16		91	3,8435		0,3,4216	yes	missense,missense,missense,missense	CDH13	NM_001220488.1,NM_001220489.1,NM_001220490.1,NM_001257.4	29,29,29,29	0,3,6317	AA,AG,GG		0.0356,0.0,0.0237	probably-damaging,probably-damaging,probably-damaging,probably-damaging	511/761,425/675,210/460,464/714	83711918	3,12637	2101	4219	6320	SO:0001583	missense	1012				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding	g.chr16:83711918G>A	U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"""Cadherins / Major cadherins"""	1753	protein-coding gene	gene with protein product	"""T-cadherin"", ""H-cadherin (heart)"""	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.1390G>A	16.37:g.83711918G>A	ENSP00000454435:p.Val464Ile					CDH13_uc010vns.1_Missense_Mutation_p.V511I|CDH13_uc010vnt.1_Missense_Mutation_p.V210I|CDH13_uc010vnu.1_Missense_Mutation_p.V425I	p.V464I	NM_001257	NP_001248	P55290	CAD13_HUMAN		COAD - Colon adenocarcinoma(5;0.0268)	10	1510	+		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)	464			Cadherin 3.		A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Missense_Mutation	SNP	ENST00000566620.1	37	c.1390G>A	CCDS58486.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.532132	0.85812	0.0	3.56E-4	ENSG00000140945	ENST00000268613;ENST00000428848;ENST00000536143;ENST00000538855;ENST00000540531	T	0.67523	-0.27	4.81	3.85	0.44370	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.79317	0.4425	M	0.74546	2.27	0.80722	D	1	D;D;D	0.76494	0.994;0.995;0.999	P;D;D	0.71870	0.903;0.932;0.975	T	0.80686	-0.1272	9	0.62326	D	0.03	.	12.1995	0.54317	0.0834:0.0:0.9166:0.0	.	425;511;464	B7Z590;B7Z9B1;P55290	.;.;CAD13_HUMAN	I	511;464;425;166;154	ENSP00000268613:V511I	ENSP00000268613:V511I	V	+	1	0	CDH13	82269419	1.000000	0.71417	0.978000	0.43139	0.902000	0.53008	7.266000	0.78452	1.025000	0.39708	0.591000	0.81541	GTC		0.577	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1		NM_001257		13	69	0	0	0	0.132662	0	13	69		
SGSM2	9905	broad.mit.edu	37	17	2279473	2279473	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr17:2279473G>A	ENST00000426855.2	+	18	2567	c.2392G>A	c.(2392-2394)Gac>Aac	p.D798N	SGSM2_ENST00000268989.3_Missense_Mutation_p.D843N|RP1-59D14.5_ENST00000573007.1_RNA|SGSM2_ENST00000574563.1_Missense_Mutation_p.D798N|RP1-59D14.5_ENST00000574290.1_RNA	NM_001098509.1	NP_001091979.1	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	798	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				late endosome to Golgi transport (GO:0034499)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		GCACCGCATAGACAAGGATGT	0.607																																						uc002fun.3		NaN																	0					0						c.(2392-2394)GAC>AAC		RUN and TBC1 domain containing 1 isoform 2							118.0	98.0	105.0					17																	2279473		2203	4300	6503	SO:0001583	missense	9905					intracellular	Rab GTPase activator activity	g.chr17:2279473G>A	BC039204	CCDS32526.1, CCDS45570.1	17p13.3	2013-07-10	2007-08-14	2007-08-14		ENSG00000141258		"""Small G protein signaling modulators"""	29026	protein-coding gene	gene with protein product		611418	"""RUN and TBC1 domain containing 1"""	RUTBC1		9455477, 17509819, 21808068	Standard	NM_014853		Approved	KIAA0397	uc002fum.4	O43147		ENST00000426855.2:c.2392G>A	17.37:g.2279473G>A	ENSP00000415107:p.Asp798Asn					SGSM2_uc002fum.3_Missense_Mutation_p.D843N|SGSM2_uc010vqw.1_Missense_Mutation_p.D798N|SGSM2_uc002fup.1_5'UTR|SGSM2_uc002fuq.2_5'Flank	p.D798N	NM_001098509	NP_001091979	O43147	SGSM2_HUMAN		Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)	18	2567	+			798			Rab-GAP TBC.		A5LGW2|B4DH69|Q49AC2|Q6ZUY2|Q8IXU4	Missense_Mutation	SNP	ENST00000426855.2	37	c.2392G>A	CCDS45570.1	.	.	.	.	.	.	.	.	.	.	g	35	5.554064	0.96501	.	.	ENSG00000141258	ENST00000268989;ENST00000426855	T;T	0.11385	2.78;2.78	5.3	5.3	0.74995	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.38295	0.1035	M	0.82517	2.595	0.80722	D	1	D;D;D	0.89917	0.999;0.993;1.0	D;D;D	0.80764	0.991;0.911;0.994	T	0.29181	-1.0020	10	0.72032	D	0.01	-18.6313	17.9521	0.89057	0.0:0.0:1.0:0.0	.	798;798;843	O43147-5;O43147;O43147-2	.;SGSM2_HUMAN;.	N	843;798	ENSP00000268989:D843N;ENSP00000415107:D798N	ENSP00000268989:D843N	D	+	1	0	SGSM2	2226223	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.832000	0.99423	2.508000	0.84585	0.651000	0.88453	GAC		0.607	SGSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438186.1		NM_014853		15	76	0	0	0	0.043863	0	15	76		
PLD2	5338	broad.mit.edu	37	17	4718857	4718857	+	Silent	SNP	G	G	A			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr17:4718857G>A	ENST00000263088.6	+	13	1391	c.1260G>A	c.(1258-1260)ctG>ctA	p.L420L	PLD2_ENST00000572940.1_Silent_p.L420L	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	420					cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor internalization (GO:0002031)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	AGAGGGCGCTGATGCTGCTGC	0.577											OREG0024105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002fzc.2		NaN																	0				breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	5						c.(1258-1260)CTG>CTA		phospholipase D2	Choline(DB00122)						248.0	217.0	228.0					17																	4718857		2203	4300	6503	SO:0001819	synonymous_variant	5338				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr17:4718857G>A	AF035483	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			ENSG00000129219	ENSG00000129219	3.1.4.4		9068	protein-coding gene	gene with protein product	"""choline phosphatase 2"""	602384				9858823, 9582313	Standard	NM_002663		Approved		uc002fzc.3	O14939	OTTHUMG00000090779	ENST00000263088.6:c.1260G>A	17.37:g.4718857G>A			OREG0024105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	621	PLD2_uc010vsj.1_Silent_p.L277L|PLD2_uc002fzd.2_Silent_p.L420L	p.L420L	NM_002663	NP_002654	O14939	PLD2_HUMAN			13	1361	+			420					I3L2C9|O43540|O43579|O43580|Q6PGR0|Q96BY3	Silent	SNP	ENST00000263088.6	37	c.1260G>A	CCDS11057.1																																																																																				0.577	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207561.3		NM_002663		47	165	0	0	0	0.139131	0	47	165		
RPAIN	84268	broad.mit.edu	37	17	5331461	5331461	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr17:5331461G>T	ENST00000381209.3	+	6	1130	c.560G>T	c.(559-561)tGt>tTt	p.C187F	RPAIN_ENST00000574003.1_3'UTR|RPAIN_ENST00000405578.4_Missense_Mutation_p.C187F|CTC-524C5.2_ENST00000575890.1_RNA|RPAIN_ENST00000327154.6_Intron|RPAIN_ENST00000536255.2_Intron|RPAIN_ENST00000381208.5_Intron	NM_001033002.3	NP_001028174.2	Q86UA6	RIP_HUMAN	RPA interacting protein	187					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|protein import into nucleus (GO:0006606)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)	metal ion binding (GO:0046872)|protein complex binding (GO:0032403)			breast(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)	6						AGTGCACATTGTCCCCACACA	0.463																																						uc002gbq.2		NaN																	0					0						c.(559-561)TGT>TTT		RPA interacting protein isoform b							147.0	137.0	141.0					17																	5331461		2203	4300	6503	SO:0001583	missense	84268				DNA recombination|DNA repair|DNA-dependent DNA replication|protein import into nucleus|response to UV	cytoplasm|cytoplasm|nucleolus|PML body|PML body	metal ion binding|protein complex binding	g.chr17:5331461G>T	AY775314	CCDS32536.1, CCDS54075.1, CCDS54076.1, CCDS54077.1, CCDS54079.1	17p13.2	2014-02-12	2006-05-08			ENSG00000129197			28641	protein-coding gene	gene with protein product						16135809, 16008515	Standard	NM_001033002		Approved	MGC4189, RIP, hRIP	uc010vsz.1	Q86UA6		ENST00000381209.3:c.560G>T	17.37:g.5331461G>T	ENSP00000370606:p.Cys187Phe					RPAIN_uc010vsz.1_Missense_Mutation_p.C187F|RPAIN_uc002gbp.1_Missense_Mutation_p.C203F|RPAIN_uc010vta.1_3'UTR|RPAIN_uc010vtb.1_Intron|RPAIN_uc002gbs.2_Missense_Mutation_p.C203F|RPAIN_uc002gbt.2_Intron|RPAIN_uc002gbu.2_Intron|RPAIN_uc002gbv.2_RNA|RPAIN_uc002gbr.2_RNA|RPAIN_uc002gbw.2_Intron|RPAIN_uc002gbx.1_5'Flank	p.C187F	NM_001033002	NP_001028174	Q86UA6	RIP_HUMAN			6	1130	+			187			RIP-type.		B4DI36|B4DTX7|E9PES3|J3KNH8|Q4G2Y0|Q4G2Y5|Q4G2Y8|Q6B4V9|Q6B4W0|Q6B4W1|Q6B4W4|Q86X49|Q9BT00	Missense_Mutation	SNP	ENST00000381209.3	37	c.560G>T	CCDS32536.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.640280	0.47153	.	.	ENSG00000129197	ENST00000381209;ENST00000405578	D;D	0.88354	-2.12;-2.37	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	D	0.94656	0.8277	M	0.81942	2.565	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	0.95043	0.8180	10	0.87932	D	0	-23.3721	17.8538	0.88756	0.0:0.0:1.0:0.0	.	187;187;187	E9PES3;Q86UA6;B4DI36	.;RIP_HUMAN;.	F	187	ENSP00000370606:C187F;ENSP00000385814:C187F	ENSP00000370606:C187F	C	+	2	0	RPAIN	5272185	1.000000	0.71417	0.405000	0.26409	0.169000	0.22640	6.863000	0.75489	2.691000	0.91804	0.563000	0.77884	TGT		0.463	RPAIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439373.1		NM_001033002		48	53	1	0	6.3237e-29	0.139131	7.24912e-29	48	53		
TP53	7157	broad.mit.edu	37	17	7578454	7578454	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr17:7578454G>A	ENST00000269305.4	-	5	665	c.476C>T	c.(475-477)gCc>gTc	p.A159V	TP53_ENST00000413465.2_Missense_Mutation_p.A159V|TP53_ENST00000445888.2_Missense_Mutation_p.A159V|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.A159V|TP53_ENST00000455263.2_Missense_Mutation_p.A159V|TP53_ENST00000420246.2_Missense_Mutation_p.A159V	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	159	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		A -> D (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|A -> G (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.A159V(33)|p.0?(8)|p.A159D(7)|p.R158fs(6)|p.R65fs(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.R26fs(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.R158fs*11(1)|p.A66V(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.A27V(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.A159_Q167delAMAIYKQSQ(1)|p.V157fs*21(1)|p.R158fs*8(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GATGGCCATGGCGCGGACGCG	0.627		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		81	Substitution - Missense(42)|Deletion - In frame(12)|Complex(10)|Whole gene deletion(8)|Deletion - Frameshift(7)|Complex - frameshift(2)	p.A159V(30)|p.A159P(13)|p.A159A(8)|p.A159T(7)|p.A159D(7)|p.0?(7)|p.A159fs*11(5)|p.A159S(4)|p.R158_A159insX(4)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.A159fs*21(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.A159_Q167delAMAIYKQSQ(1)|p.V157fs*21(1)|p.R158fs*8(1)	central_nervous_system(15)|large_intestine(13)|lung(13)|stomach(6)|breast(6)|ovary(6)|oesophagus(4)|bone(4)|liver(4)|haematopoietic_and_lymphoid_tissue(3)|pancreas(2)|upper_aerodigestive_tract(1)|endometrium(1)|urinary_tract(1)|skin(1)|prostate(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(475-477)GCC>GTC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							50.0	51.0	51.0					17																	7578454		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578454G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.476C>T	17.37:g.7578454G>A	ENSP00000269305:p.Ala159Val	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.A159V|TP53_uc002gih.2_Missense_Mutation_p.A159V|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.A27V|TP53_uc010cng.1_Missense_Mutation_p.A27V|TP53_uc002gii.1_Missense_Mutation_p.A27V|TP53_uc010cnh.1_Missense_Mutation_p.A159V|TP53_uc010cni.1_Missense_Mutation_p.A159V|TP53_uc002gij.2_Missense_Mutation_p.A159V|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.A66V|TP53_uc002gio.2_Missense_Mutation_p.A27V|TP53_uc010vug.1_Missense_Mutation_p.A120V	p.A159V	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	670	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	159		A -> G (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> D (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.476C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.211949	0.58452	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99859	-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23	5.59	2.42	0.29668	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.053992	0.64402	D	0.000001	D	0.99594	0.9853	L	0.49513	1.565	0.50171	D	0.999855	D;P;B;D;P;P;D	0.67145	0.984;0.881;0.358;0.989;0.832;0.769;0.996	P;P;B;P;P;P;P	0.59703	0.774;0.616;0.255;0.741;0.814;0.632;0.862	D	0.98152	1.0442	10	0.87932	D	0	-9.0177	10.7596	0.46258	0.0:0.2672:0.5942:0.1386	.	120;159;159;66;159;159;159	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	V	159;159;159;159;159;159;148;66;27;66;27;159	ENSP00000410739:A159V;ENSP00000352610:A159V;ENSP00000269305:A159V;ENSP00000398846:A159V;ENSP00000391127:A159V;ENSP00000391478:A159V;ENSP00000425104:A27V;ENSP00000423862:A66V;ENSP00000424104:A159V	ENSP00000269305:A159V	A	-	2	0	TP53	7519179	1.000000	0.71417	0.377000	0.26055	0.171000	0.22731	7.969000	0.87988	0.364000	0.24374	-0.176000	0.13171	GCC		0.627	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546		48	8	0	0	0	0.139131	0	48	8		
FLII	2314	broad.mit.edu	37	17	18155374	18155374	+	Silent	SNP	C	C	T	rs145214604	byFrequency	TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr17:18155374C>T	ENST00000327031.4	-	11	1410	c.1185G>A	c.(1183-1185)tcG>tcA	p.S395S	FLII_ENST00000379450.4_Silent_p.S310S|FLII_ENST00000578558.1_Silent_p.S395S|FLII_ENST00000579294.1_Silent_p.S384S|FLII_ENST00000584444.1_5'Flank|FLII_ENST00000545457.2_Silent_p.S341S	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	395	Interaction with LRRFIP1 and LRRFIP2.				multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					GGTTCTGCAGCGAGAAGTCGA	0.652													c|||	2	0.000399361	0.0008	0.0	5008	,	,		19766	0.0		0.001	False		,,,				2504	0.0					uc002gsr.1		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(1183-1185)TCG>TCA		flightless I homolog		T		3,4403	6.2+/-15.9	0,3,2200	66.0	69.0	68.0		1185	-11.6	0.4	17	dbSNP_134	68	0,8600		0,0,4300	no	coding-synonymous	FLII	NM_002018.2		0,3,6500	TT,TC,CC		0.0,0.0681,0.0231		395/1270	18155374	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	2314				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding	g.chr17:18155374C>T	U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731			3750	protein-coding gene	gene with protein product		600362	"""flightless I (Drosophila) homolog"""			7825574	Standard	NM_002018		Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.1185G>A	17.37:g.18155374C>T						FLII_uc002gsq.1_Silent_p.S267S|FLII_uc010cpy.1_Silent_p.S384S|FLII_uc010vxn.1_Silent_p.S364S|FLII_uc010vxo.1_Silent_p.S341S|FLII_uc002gss.1_Silent_p.S395S	p.S395S	NM_002018	NP_002009	Q13045	FLII_HUMAN			11	1236	-	all_neural(463;0.228)		395			Interaction with LRRFIP1 and LRRFIP2.		B4DIL0|F5H407|J3QLG3	Silent	SNP	ENST00000327031.4	37	c.1185G>A	CCDS11192.1																																																																																				0.652	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132032.2		NM_002018		43	43	0	0	0	0.139131	0	43	43		
SLFN13	146857	broad.mit.edu	37	17	33769022	33769022	+	Silent	SNP	C	C	T			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr17:33769022C>T	ENST00000285013.6	-	5	1757	c.1482G>A	c.(1480-1482)ttG>ttA	p.L494L	SLFN13_ENST00000534689.1_Silent_p.L176L|SLFN13_ENST00000542635.1_Silent_p.L494L|SLFN13_ENST00000526861.1_Silent_p.L494L|SLFN13_ENST00000360502.2_Silent_p.L176L|SLFN13_ENST00000533791.1_Silent_p.L494L	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	494						intracellular (GO:0005622)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GCTTCTGCTTCAAAGTAAAGG	0.582																																						uc002hjk.1		NaN																	0				ovary(1)|breast(1)	2						c.(1480-1482)TTG>TTA		schlafen family member 13							71.0	62.0	65.0					17																	33769022		2203	4297	6500	SO:0001819	synonymous_variant	146857					intracellular	ATP binding	g.chr17:33769022C>T	AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.1482G>A	17.37:g.33769022C>T						SLFN13_uc010wch.1_Silent_p.L494L|SLFN13_uc002hjl.2_Silent_p.L494L|SLFN13_uc010ctt.2_Silent_p.L176L|SLFN13_uc002hjm.2_Silent_p.L163L	p.L494L	NM_144682	NP_653283	Q68D06	SLN13_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	3	1812	-			494					E1P645|Q658M1|Q6ZS51|Q96A81	Silent	SNP	ENST00000285013.6	37	c.1482G>A	CCDS32620.1																																																																																				0.582	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381883.1		NM_144682		5	67	0	0	0	0.069234	0	5	67		
ITGA3	3675	broad.mit.edu	37	17	48155574	48155574	+	Silent	SNP	G	G	A			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr17:48155574G>A	ENST00000320031.8	+	18	2553	c.2223G>A	c.(2221-2223)tcG>tcA	p.S741S	ITGA3_ENST00000007722.7_Silent_p.S741S	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	741					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|lung development (GO:0030324)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|negative regulation of cell projection organization (GO:0031345)|nephron development (GO:0072006)|neuron migration (GO:0001764)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|regulation of BMP signaling pathway (GO:0030510)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of Wnt signaling pathway (GO:0030111)|renal filtration (GO:0097205)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|skin development (GO:0043588)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integrin alpha3-beta1 complex (GO:0034667)|integrin complex (GO:0008305)|invadopodium membrane (GO:0071438)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	glycoprotein binding (GO:0001948)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						TCCCAAGGTCGAGTCACCAGG	0.572																																						uc010dbl.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(2221-2223)TCG>TCA		integrin alpha 3 isoform a precursor							242.0	176.0	198.0					17																	48155574		2203	4300	6503	SO:0001819	synonymous_variant	3675				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity	g.chr17:48155574G>A	M59911	CCDS11557.1, CCDS11558.1	17q21.33	2010-03-23	2003-10-13		ENSG00000005884	ENSG00000005884		"""CD molecules"", ""Integrins"""	6139	protein-coding gene	gene with protein product		605025	"""antigen identified by monoclonal antibody J143"""	MSK18		1655803, 9704023	Standard	NM_005501		Approved	CD49c, VLA3a, VCA-2, GAP-B3	uc010dbm.3	P26006	OTTHUMG00000161890	ENST00000320031.8:c.2223G>A	17.37:g.48155574G>A						ITGA3_uc010dbm.2_Silent_p.S741S	p.S741S	NM_002204	NP_002195	P26006	ITA3_HUMAN			18	2687	+			741			Extracellular (Potential).		A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Silent	SNP	ENST00000320031.8	37	c.2223G>A	CCDS11558.1	.	.	.	.	.	.	.	.	.	.	G	8.015	0.758439	0.15846	.	.	ENSG00000005884	ENST00000506827	.	.	.	5.35	-10.6	0.00265	.	.	.	.	.	T	0.32041	0.0816	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39482	-0.9612	4	.	.	.	.	2.1319	0.03752	0.2476:0.3801:0.2088:0.1635	.	.	.	.	K	120	.	.	E	+	1	0	ITGA3	45510573	0.000000	0.05858	0.657000	0.29651	0.727000	0.41649	-2.706000	0.00821	-2.147000	0.00799	-0.294000	0.09567	GAG		0.572	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000366298.1		NM_005501		5	87	0	0	0	0.021553	0	5	87		
TEX2	55852	broad.mit.edu	37	17	62230483	62230483	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr17:62230483T>G	ENST00000583097.1	-	10	3134	c.2962A>C	c.(2962-2964)Atg>Ctg	p.M988L	TEX2_ENST00000581812.1_5'UTR|TEX2_ENST00000584379.1_Missense_Mutation_p.M988L|TEX2_ENST00000258991.3_Missense_Mutation_p.M995L			Q8IWB9	TEX2_HUMAN	testis expressed 2	988					signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		ACAAACCTCATAATCTTACTT	0.383																																						uc002jec.2		NaN																	0				ovary(1)	1						c.(2962-2964)ATG>CTG		testis expressed sequence 2							96.0	97.0	97.0					17																	62230483		2203	4300	6503	SO:0001583	missense	55852				signal transduction|sphingolipid metabolic process	integral to membrane		g.chr17:62230483T>G	AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"""transmembrane protein 96"""		"""testis expressed sequence 2"""			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.2962A>C	17.37:g.62230483T>G	ENSP00000462665:p.Met988Leu					TEX2_uc002jed.2_Missense_Mutation_p.M995L|TEX2_uc002jee.2_Missense_Mutation_p.M988L	p.M988L	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)	10	3135	-			988					Q6AHZ5|Q8N3L0|Q9C0C5	Missense_Mutation	SNP	ENST00000583097.1	37	c.2962A>C		.	.	.	.	.	.	.	.	.	.	T	16.04	3.010456	0.54361	.	.	ENSG00000136478	ENST00000258991	T	0.38560	1.13	6.17	6.17	0.99709	.	0.038649	0.85682	D	0.000000	T	0.30792	0.0776	N	0.25060	0.705	0.80722	D	1	B;B	0.19583	0.037;0.022	B;B	0.22386	0.039;0.023	T	0.13683	-1.0500	10	0.10636	T	0.68	-26.6399	16.8222	0.85835	0.0:0.0:0.0:1.0	.	995;988	Q8IWB9-2;Q8IWB9	.;TEX2_HUMAN	L	995	ENSP00000258991:M995L	ENSP00000258991:M995L	M	-	1	0	TEX2	59584215	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.698000	0.84413	2.371000	0.80710	0.533000	0.62120	ATG		0.383	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1		NM_018469		6	31	0	0	0	0.038147	0	6	31		
BPTF	2186	broad.mit.edu	37	17	65941562	65941562	+	Silent	SNP	G	G	A			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr17:65941562G>A	ENST00000321892.4	+	23	7177	c.7116G>A	c.(7114-7116)caG>caA	p.Q2372Q	BPTF_ENST00000424123.3_Silent_p.Q2233Q|BPTF_ENST00000335221.5_Silent_p.Q2372Q|BPTF_ENST00000306378.6_Silent_p.Q2246Q			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2372					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TGTCACCCCAGATGCAGGTAC	0.478																																						uc002jgf.2		NaN																	0				ovary(2)|skin(2)	4						c.(6736-6738)CAG>CAA		bromodomain PHD finger transcription factor							80.0	74.0	76.0					17																	65941562		2203	4300	6503	SO:0001819	synonymous_variant	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65941562G>A	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.7116G>A	17.37:g.65941562G>A						BPTF_uc002jge.2_Silent_p.Q2372Q|BPTF_uc002jgg.2_Silent_p.Q46Q|BPTF_uc002jgh.2_5'Flank	p.Q2246Q	NM_182641	NP_872579	Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		21	6799	+	all_cancers(12;6e-11)		2372					Q6NX67|Q7Z7D6|Q9UIG2	Silent	SNP	ENST00000321892.4	37	c.6738G>A		.	.	.	.	.	.	.	.	.	.	G	0.123	-1.123492	0.01770	.	.	ENSG00000171634	ENST00000424123	.	.	.	5.46	3.34	0.38264	.	.	.	.	.	T	0.31979	0.0814	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.08229	-1.0732	5	0.05833	T	0.94	-0.2293	9.2115	0.37322	0.1786:0.0:0.8214:0.0	.	.	.	.	K	44	.	ENSP00000388405:R44K	R	+	2	0	BPTF	63372024	0.987000	0.35691	0.992000	0.48379	0.310000	0.27922	1.124000	0.31320	0.681000	0.31386	0.650000	0.86243	AGA		0.478	BPTF-201	KNOWN	basic	protein_coding	protein_coding			NM_182641, NM_004459		27	58	0	0	0	0.064281	0	27	58		
UTS2R	2837	broad.mit.edu	37	17	80333364	80333364	+	Silent	SNP	G	G	A			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr17:80333364G>A	ENST00000313135.2	+	1	1212	c.1164G>A	c.(1162-1164)ccG>ccA	p.P388P		NM_018949.1	NP_061822.1	Q9UKP6	UR2R_HUMAN	urotensin 2 receptor	388					blood circulation (GO:0008015)|negative regulation of blood pressure (GO:0045776)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of urine volume (GO:0035811)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cell growth (GO:0030307)|positive regulation of circadian sleep/wake cycle, REM sleep (GO:0046005)|positive regulation of circadian sleep/wake cycle, wakefulness (GO:0010841)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of vasoconstriction (GO:0045907)|regulation of vasodilation (GO:0042312)|response to drug (GO:0042493)|signal transduction (GO:0007165)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)|urotensin II receptor activity (GO:0001604)			breast(1)|endometrium(4)|kidney(1)|lung(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			CCAGGGCCCCGGCGTGAGCAC	0.761																																						uc010wvl.1		NaN																	0				breast(1)	1						c.(1162-1164)CCG>CCA		urotensin 2 receptor							4.0	5.0	4.0					17																	80333364		1084	2304	3388	SO:0001819	synonymous_variant	2837					integral to membrane|plasma membrane		g.chr17:80333364G>A	AF140631	CCDS11810.1	17q25.3	2013-04-30	2004-07-13	2004-07-13		ENSG00000181408			4468	protein-coding gene	gene with protein product		600896	"""G protein-coupled receptor 14"""	GPR14		8666380, 10499587	Standard	NM_018949		Approved		uc010wvl.2	Q9UKP6		ENST00000313135.2:c.1164G>A	17.37:g.80333364G>A							p.P388P	NM_018949	NP_061822	Q9UKP6	UR2R_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)		1	1164	+	Breast(20;0.00106)|all_neural(118;0.0804)		388			Cytoplasmic (Potential).		B2RMV8	Silent	SNP	ENST00000313135.2	37	c.1164G>A	CCDS11810.1																																																																																				0.761	UTS2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443506.1		NM_018949		5	8	0	0	0	0.021553	0	5	8		
RAB12	201475	broad.mit.edu	37	18	8624998	8624998	+	Splice_Site	SNP	T	T	C			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr18:8624998T>C	ENST00000329286.6	+	2	570		c.e2+2			NM_001025300.2	NP_001020471.2	Q6IQ22	RAB12_HUMAN	RAB12, member RAS oncogene family						autophagy (GO:0006914)|cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|recycling endosome membrane (GO:0055038)|secretory granule (GO:0030141)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			breast(1)|lung(4)|prostate(1)|urinary_tract(1)	7						ACAGATCTGGTAAGTGGGAGA	0.358																																						uc002knp.2		NaN																	0					0						c.e2+2		RAB12, member RAS oncogene family							201.0	191.0	194.0					18																	8624998		1878	4116	5994	SO:0001630	splice_region_variant	201475				protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding	g.chr18:8624998T>C		CCDS42410.1	18p11.22	2006-12-18				ENSG00000206418		"""RAB, member RAS oncogene"""	31332	protein-coding gene	gene with protein product							Standard	NM_001025300		Approved		uc002knp.3	Q6IQ22		ENST00000329286.6:c.287+2T>C	18.37:g.8624998T>C							p.W96_splice	NM_001025300	NP_001020471	Q6IQ22	RAB12_HUMAN			2	570	+								A6NEF5|Q4KMQ3	Splice_Site	SNP	ENST00000329286.6	37	c.287_splice	CCDS42410.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.063680	0.76187	.	.	ENSG00000206418	ENST00000329286	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1193	0.81336	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	RAB12	8614998	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	7.476000	0.81055	2.201000	0.70794	0.533000	0.62120	.		0.358	RAB12-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444080.1		XM_113967	Intron	45	96	0	0	0	0.139131	0	45	96		
CD209	30835	broad.mit.edu	37	19	7810561	7810561	+	Silent	SNP	G	G	A			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr19:7810561G>A	ENST00000315599.7	-	4	613	c.591C>T	c.(589-591)acC>acT	p.T197T	CD209_ENST00000601256.1_Silent_p.T173T|CD209_ENST00000301357.8_Intron|CD209_ENST00000315591.8_Silent_p.T173T|CD209_ENST00000601951.1_Silent_p.T173T|CD209_ENST00000602261.1_Intron|CD209_ENST00000394161.5_Intron|CD209_ENST00000394173.4_Intron|CD209_ENST00000204801.8_Silent_p.T153T|CD209_ENST00000593660.1_Silent_p.T173T|CD209_ENST00000593821.1_Intron|CD209_ENST00000354397.6_Silent_p.T197T	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	197	7 X approximate tandem repeats.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCTTCAGCCGGGTCAGCTCCT	0.567																																						uc002mht.2		NaN																	0				skin(1)	1						c.(589-591)ACC>ACT		CD209 molecule isoform 1							27.0	28.0	28.0					19																	7810561		1854	3859	5713	SO:0001819	synonymous_variant	30835				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	g.chr19:7810561G>A	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"""C-type lectin domain containing"", ""CD molecules"""	1641	protein-coding gene	gene with protein product		604672	"""CD209 antigen"""			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.591C>T	19.37:g.7810561G>A						CD209_uc010xju.1_Intron|CD209_uc010dvp.2_Silent_p.T173T|CD209_uc002mhr.2_Silent_p.T173T|CD209_uc002mhs.2_Silent_p.T173T|CD209_uc002mhu.2_Intron|CD209_uc010dvq.2_Silent_p.T197T|CD209_uc002mhq.2_Silent_p.T197T|CD209_uc002mhv.2_Silent_p.T173T|CD209_uc002mhx.2_Silent_p.T153T|CD209_uc002mhw.2_Intron|CD209_uc010dvr.2_Intron	p.T197T	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN			4	658	-			197			Extracellular (Probable).|5.|7 X approximate tandem repeats.		A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Silent	SNP	ENST00000315599.7	37	c.591C>T	CCDS12186.1																																																																																				0.567	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1		NM_021155		5	174	0	0	0	0.02938	0	5	174		
CD209	30835	broad.mit.edu	37	19	7810767	7810767	+	Missense_Mutation	SNP	G	G	A	rs146082308		TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr19:7810767G>A	ENST00000315599.7	-	4	407	c.385C>T	c.(385-387)Cgg>Tgg	p.R129W	CD209_ENST00000601256.1_Missense_Mutation_p.R105W|CD209_ENST00000301357.8_Missense_Mutation_p.R85W|CD209_ENST00000315591.8_Missense_Mutation_p.R105W|CD209_ENST00000601951.1_Missense_Mutation_p.R105W|CD209_ENST00000602261.1_Missense_Mutation_p.R129W|CD209_ENST00000394161.5_Intron|CD209_ENST00000394173.4_Intron|CD209_ENST00000204801.8_Missense_Mutation_p.R85W|CD209_ENST00000593660.1_Missense_Mutation_p.R105W|CD209_ENST00000593821.1_Missense_Mutation_p.R85W|CD209_ENST00000354397.6_Missense_Mutation_p.R129W	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	129	7 X approximate tandem repeats.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)	p.R129W(4)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCCTTCAGCCGGGTCAGCTCC	0.567																																						uc002mht.2		NaN																	4	Substitution - Missense(4)		endometrium(4)	skin(1)	1						c.(385-387)CGG>TGG		CD209 molecule isoform 1							89.0	92.0	91.0					19																	7810767		2202	4297	6499	SO:0001583	missense	30835				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	g.chr19:7810767G>A	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"""C-type lectin domain containing"", ""CD molecules"""	1641	protein-coding gene	gene with protein product		604672	"""CD209 antigen"""			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.385C>T	19.37:g.7810767G>A	ENSP00000315477:p.Arg129Trp					CD209_uc010xju.1_Intron|CD209_uc010dvp.2_Missense_Mutation_p.R105W|CD209_uc002mhr.2_Missense_Mutation_p.R105W|CD209_uc002mhs.2_Missense_Mutation_p.R105W|CD209_uc002mhu.2_Missense_Mutation_p.R129W|CD209_uc010dvq.2_Missense_Mutation_p.R129W|CD209_uc002mhq.2_Missense_Mutation_p.R129W|CD209_uc002mhv.2_Missense_Mutation_p.R105W|CD209_uc002mhx.2_Missense_Mutation_p.R85W|CD209_uc002mhw.2_Missense_Mutation_p.R85W|CD209_uc010dvr.2_Intron	p.R129W	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN			4	452	-			129			Extracellular (Probable).|2.|7 X approximate tandem repeats.		A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Missense_Mutation	SNP	ENST00000315599.7	37	c.385C>T	CCDS12186.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.167766	0.38315	.	.	ENSG00000090659	ENST00000315599;ENST00000354397;ENST00000315591;ENST00000204801;ENST00000394173;ENST00000301357;ENST00000540789	T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;2.27	1.37	0.149	0.14863	.	.	.	.	.	T	0.24236	0.0587	L	0.28192	0.835	0.09310	N	1	B;B;D;D;B;D;B;B;B;B	0.64830	0.021;0.005;0.968;0.994;0.012;0.985;0.007;0.011;0.01;0.012	B;B;P;P;B;P;B;B;B;B	0.54815	0.008;0.008;0.534;0.761;0.005;0.663;0.002;0.006;0.003;0.009	T	0.12016	-1.0564	9	0.56958	D	0.05	.	4.5792	0.12250	0.0:0.0:0.6254:0.3746	.	129;105;85;85;105;129;129;105;105;129	Q9NNX6-2;Q9NNX6-12;Q9NNX6-7;Q9NNX6-8;Q9NNX6-6;G5E9C4;Q9NNX6;Q9NNX6-11;Q9NNX6-10;Q9NNX6-5	.;.;.;.;.;.;CD209_HUMAN;.;.;.	W	129;129;105;85;129;85;113	ENSP00000315477:R129W;ENSP00000346373:R129W;ENSP00000315407:R105W;ENSP00000204801:R85W;ENSP00000301357:R85W	ENSP00000204801:R85W	R	-	1	2	CD209	7716767	0.000000	0.05858	0.010000	0.14722	0.462000	0.32619	-0.010000	0.12743	0.103000	0.17682	0.449000	0.29647	CGG		0.567	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1		NM_021155		5	292	0	0	0	0.02938	0	5	292		
ICAM5	7087	broad.mit.edu	37	19	10402342	10402342	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr19:10402342G>A	ENST00000221980.4	+	3	593	c.530G>A	c.(529-531)cGg>cAg	p.R177Q	CTD-2369P2.8_ENST00000589379.1_RNA|ICAM5_ENST00000586004.1_3'UTR	NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	177	Ig-like C2-type 2.				phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			CCCCGAGCGCGGGGCGCGGTG	0.736																																						uc002mnu.3		NaN																	0				breast(3)	3						c.(529-531)CGG>CAG		intercellular adhesion molecule 5 precursor							14.0	17.0	16.0					19																	10402342		2156	4243	6399	SO:0001583	missense	7087				cell-cell adhesion	integral to plasma membrane		g.chr19:10402342G>A	U72671	CCDS12233.1	19p13.2	2013-01-14				ENSG00000105376		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5348	protein-coding gene	gene with protein product	"""telencephalin"""	601852		TLCN		8995416, 9828136	Standard	NM_003259		Approved	TLN	uc002mnu.4	Q9UMF0		ENST00000221980.4:c.530G>A	19.37:g.10402342G>A	ENSP00000221980:p.Arg177Gln					ICAM5_uc002mnv.3_Missense_Mutation_p.R52Q	p.R177Q	NM_003259	NP_003250	Q9UMF0	ICAM5_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)		3	595	+			177			Extracellular (Potential).|Ig-like C2-type 2.		Q9Y6F3	Missense_Mutation	SNP	ENST00000221980.4	37	c.530G>A	CCDS12233.1	.	.	.	.	.	.	.	.	.	.	g	17.29	3.352125	0.61183	.	.	ENSG00000105376	ENST00000221980	T	0.05258	3.47	5.33	4.29	0.51040	Immunoglobulin-like fold (1);	0.384441	0.23951	N	0.042955	T	0.03095	0.0091	N	0.11560	0.145	0.25026	N	0.991306	P	0.51449	0.945	B	0.38985	0.287	T	0.47799	-0.9089	10	0.23891	T	0.37	-31.864	8.9935	0.36039	0.0989:0.0:0.9011:0.0	.	177	Q9UMF0	ICAM5_HUMAN	Q	177	ENSP00000221980:R177Q	ENSP00000221980:R177Q	R	+	2	0	ICAM5	10263342	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.457000	0.45005	2.519000	0.84933	0.466000	0.42574	CGG		0.736	ICAM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451217.1		NM_003259		7	23	0	0	0	0.080935	0	7	23		
ZNF878	729747	broad.mit.edu	37	19	12155673	12155673	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr19:12155673A>C	ENST00000547628.1	-	4	680	c.543T>G	c.(541-543)agT>agG	p.S181R	CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|ZNF878_ENST00000602107.1_Missense_Mutation_p.S228R|CTD-2006C1.2_ENST00000476474.1_RNA	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	181					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AACTGGGAAAACTGAATGCTT	0.403																																						uc002mta.1		NaN																	0					0						c.(682-684)AGT>AGG		zinc finger protein 878							189.0	199.0	196.0					19																	12155673		2112	4260	6372	SO:0001583	missense	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12155673A>C		CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"""Zinc fingers, C2H2-type"", ""-"""	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.543T>G	19.37:g.12155673A>C	ENSP00000447931:p.Ser181Arg						p.S228R	NM_001080404	NP_001073873	C9JN71	ZN878_HUMAN			5	684	-			181			C2H2-type 3.			Missense_Mutation	SNP	ENST00000547628.1	37	c.684T>G	CCDS45984.2	.	.	.	.	.	.	.	.	.	.	a	0	-2.730166	0.00089	.	.	ENSG00000257446;ENSG00000232371	ENST00000547628;ENST00000440730	T	0.07216	3.21	1.24	-2.47	0.06442	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03871	0.0109	N	0.12831	0.26	0.09310	N	1	B	0.11235	0.004	B	0.15484	0.013	T	0.39231	-0.9624	9	0.21540	T	0.41	.	5.2308	0.15420	0.5561:0.2971:0.0:0.1468	.	181	C9JN71	ZN878_HUMAN	R	181;228	ENSP00000447931:S181R	ENSP00000447931:S181R	S	-	3	2	AC022415.4;ZNF878	12016673	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.404000	0.07205	-2.785000	0.00359	-2.885000	0.00097	AGT		0.403	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1		NM_001080404		4	158	0	0	0	0.021553	0	4	158		
ZNF799	90576	broad.mit.edu	37	19	12501446	12501446	+	Missense_Mutation	SNP	T	T	C	rs201078380		TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr19:12501446T>C	ENST00000430385.3	-	4	1966	c.1766A>G	c.(1765-1767)gAa>gGa	p.E589G	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000419318.1_Missense_Mutation_p.E557G	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	589					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TTCCTTACATTCATACGGGTT	0.413													T|||	1	0.000199681	0.0	0.0	5008	,	,		22235	0.0		0.0	False		,,,				2504	0.001					uc010dyt.2		NaN																	0				breast(3)|ovary(2)|skin(1)	6						c.(1765-1767)GAA>GGA		zinc finger protein 799							71.0	74.0	73.0					19																	12501446		2202	4278	6480	SO:0001583	missense	90576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12501446T>C	BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"""Zinc fingers, C2H2-type"", ""-"""	28071	protein-coding gene	gene with protein product			"""zinc finger protein 842"""	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.1766A>G	19.37:g.12501446T>C	ENSP00000411084:p.Glu589Gly					ZNF799_uc002mts.3_Intron	p.E589G	NM_001080821	NP_001074290	Q96GE5	ZN799_HUMAN			4	1916	-			589			C2H2-type 17.			Missense_Mutation	SNP	ENST00000430385.3	37	c.1766A>G	CCDS45989.1	.	.	.	.	.	.	.	.	.	.	T	10.35	1.326777	0.24080	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.22743	1.94;1.94	1.27	1.27	0.21489	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26629	0.0651	L	0.45228	1.405	0.09310	N	1	P	0.42692	0.787	P	0.53760	0.734	T	0.11446	-1.0587	9	0.49607	T	0.09	.	5.3684	0.16127	0.0:0.0:0.2914:0.7086	.	589	Q96GE5	ZN799_HUMAN	G	557;589	ENSP00000415278:E557G;ENSP00000411084:E589G	ENSP00000415278:E557G	E	-	2	0	ZNF799	12362446	0.000000	0.05858	0.018000	0.16275	0.046000	0.14306	-0.655000	0.05348	0.842000	0.35045	0.347000	0.21830	GAA		0.413	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2		NM_001080821		3	41	0	0	0	0.115264	0	3	41		
KLHL26	55295	broad.mit.edu	37	19	18778894	18778894	+	Silent	SNP	G	G	A	rs150852328	byFrequency	TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr19:18778894G>A	ENST00000300976.4	+	3	777	c.687G>A	c.(685-687)gcG>gcA	p.A229A	KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	229	BACK.									breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						TGTTCCGCGCGGCCGTCCGCT	0.692																																						uc002njz.1		NaN																	0				ovary(1)	1						c.(685-687)GCG>GCA		kelch-like 26		G		2,4404		0,2,2201	28.0	28.0	28.0		687	-10.1	0.0	19	dbSNP_134	28	0,8594		0,0,4297	no	coding-synonymous	KLHL26	NM_018316.1		0,2,6498	AA,AG,GG		0.0,0.0454,0.0154		229/616	18778894	2,12998	2203	4297	6500	SO:0001819	synonymous_variant	55295							g.chr19:18778894G>A		CCDS12384.1	19p13.11	2013-10-15	2013-02-22		ENSG00000167487	ENSG00000167487		"""Kelch-like"", ""BTB/POZ domain containing"""	25623	protein-coding gene	gene with protein product			"""kelch-like 26 (Drosophila)"""				Standard	XM_006722785		Approved		uc002njz.1	Q53HC5	OTTHUMG00000183114	ENST00000300976.4:c.687G>A	19.37:g.18778894G>A							p.A229A	NM_018316	NP_060786	Q53HC5	KLH26_HUMAN			3	714	+			229			BACK.		Q8TAP0|Q9NUX3	Silent	SNP	ENST00000300976.4	37	c.687G>A	CCDS12384.1																																																																																				0.692	KLHL26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465145.1		NM_018316		14	22	0	0	0	0.11911	0	14	22		
ZNF208	7757	broad.mit.edu	37	19	22155282	22155282	+	Missense_Mutation	SNP	T	T	C	rs536562250		TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr19:22155282T>C	ENST00000397126.4	-	4	2702	c.2554A>G	c.(2554-2556)Aag>Gag	p.K852E	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	852					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGAATTACCTTATGTTTAGTA	0.373																																						uc002nqp.2		NaN																	0				ovary(5)|skin(2)	7						c.(2254-2256)AAG>GAG		zinc finger protein 208							39.0	42.0	41.0					19																	22155282		2007	4203	6210	SO:0001583	missense	7757							g.chr19:22155282T>C	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2554A>G	19.37:g.22155282T>C	ENSP00000380315:p.Lys852Glu					ZNF208_uc002nqo.1_Intron	p.K752E	NM_007153	NP_009084					5	2403	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.2254A>G	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	T	10.63	1.403420	0.25291	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.07567	3.18	2.51	1.32	0.21799	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17662	0.0424	.	.	.	0.22034	N	0.999408	D	0.67145	0.996	P	0.62014	0.897	T	0.12344	-1.0551	8	0.35671	T	0.21	.	8.7226	0.34449	0.0:0.0:0.3314:0.6686	.	752	O43345	ZN208_HUMAN	E	852;752	ENSP00000380315:K852E	ENSP00000380315:K852E	K	-	1	0	ZNF208	21947122	0.000000	0.05858	0.003000	0.11579	0.355000	0.29361	-3.695000	0.00391	-0.120000	0.11809	0.102000	0.15555	AAG		0.373	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1		NM_007153		3	58	0	0	0	0.115264	0	3	58		
ZNF91	7644	broad.mit.edu	37	19	23544867	23544867	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr19:23544867T>C	ENST00000300619.7	-	4	1119	c.914A>G	c.(913-915)cAt>cGt	p.H305R	ZNF91_ENST00000397082.2_Missense_Mutation_p.H273R|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	305					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GGTTGAAGAATGGCTAAAAGC	0.413																																						uc002nre.2		NaN																	0					0						c.(913-915)CAT>CGT		zinc finger protein 91							78.0	82.0	81.0					19																	23544867		2175	4288	6463	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23544867T>C	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.914A>G	19.37:g.23544867T>C	ENSP00000300619:p.His305Arg					ZNF91_uc010xrj.1_Missense_Mutation_p.H273R	p.H305R	NM_003430	NP_003421	Q05481	ZNF91_HUMAN			4	1027	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	305			C2H2-type 6.		A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.914A>G	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	T	0.014	-1.588219	0.00872	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.17691	2.26;2.26	2.03	0.954	0.19595	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05640	0.0148	N	0.04043	-0.29	0.09310	N	1	B;B	0.26081	0.116;0.141	B;B	0.15484	0.007;0.013	T	0.41251	-0.9519	9	0.07030	T	0.85	.	6.7777	0.23628	0.0:0.1365:0.0:0.8635	.	273;305	Q05481-2;Q05481	.;ZNF91_HUMAN	R	305;273	ENSP00000300619:H305R;ENSP00000380272:H273R	ENSP00000300619:H305R	H	-	2	0	ZNF91	23336707	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.802000	0.00184	-0.005000	0.14395	-1.601000	0.00813	CAT		0.413	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1		NM_003430		6	151	0	0	0	0.021553	0	6	151		
SLC8A2	6543	broad.mit.edu	37	19	47935695	47935695	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr19:47935695C>G	ENST00000236877.6	-	9	2513	c.2118G>C	c.(2116-2118)gaG>gaC	p.E706D	SLC8A2_ENST00000542837.1_Missense_Mutation_p.E462D|SLC8A2_ENST00000539381.1_Missense_Mutation_p.E169D|SLC8A2_ENST00000601757.1_5'UTR	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	706					blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)	p.E706D(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CCTCCTCCTCCTCGTCCCCTG	0.602																																						uc002pgx.2		NaN																	1	Substitution - Missense(1)		endometrium(1)	skin(3)|ovary(1)	4						c.(2116-2118)GAG>GAC		solute carrier family 8 member 2 precursor							64.0	68.0	67.0					19																	47935695		2203	4300	6503	SO:0001583	missense	6543				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr19:47935695C>G	AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"""Solute carriers"""	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.2118G>C	19.37:g.47935695C>G	ENSP00000236877:p.Glu706Asp					SLC8A2_uc010xyq.1_Missense_Mutation_p.E462D|SLC8A2_uc010xyr.1_Missense_Mutation_p.E169D|SLC8A2_uc010ele.2_Missense_Mutation_p.E706D	p.E706D	NM_015063	NP_055878	Q9UPR5	NAC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)	9	2396	-		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)	706			Cytoplasmic (Potential).		B4DYQ9	Missense_Mutation	SNP	ENST00000236877.6	37	c.2118G>C	CCDS33065.1	.	.	.	.	.	.	.	.	.	.	C	2.181	-0.387578	0.04932	.	.	ENSG00000118160	ENST00000391903;ENST00000236877;ENST00000539381;ENST00000542837	T;T;T	0.63580	1.47;-0.05;1.33	4.23	2.08	0.27032	.	0.322833	0.27881	N	0.017466	T	0.26629	0.0651	N	0.01631	-0.79	0.40805	D	0.983371	B;B	0.16166	0.016;0.0	B;B	0.12156	0.007;0.001	T	0.23547	-1.0185	10	0.05959	T	0.93	.	9.1071	0.36705	0.0:0.8153:0.0:0.1847	.	534;706	E9PGS7;Q9UPR5	.;NAC2_HUMAN	D	534;706;169;462	ENSP00000236877:E706D;ENSP00000440588:E169D;ENSP00000437536:E462D	ENSP00000236877:E706D	E	-	3	2	SLC8A2	52627507	0.985000	0.35326	1.000000	0.80357	0.958000	0.62258	0.125000	0.15749	0.550000	0.28991	0.558000	0.71614	GAG		0.602	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466997.1				5	144	0	0	0	0.021553	0	5	144		
CPT1C	126129	broad.mit.edu	37	19	50216744	50216744	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr19:50216744G>A	ENST00000392518.4	+	20	2666	c.2294G>A	c.(2293-2295)gGa>gAa	p.G765E	CPT1C_ENST00000405931.2_Missense_Mutation_p.G754E|CPT1C_ENST00000598293.1_Missense_Mutation_p.G765E|CPT1C_ENST00000354199.5_Missense_Mutation_p.G676E|CPT1C_ENST00000323446.5_Missense_Mutation_p.G765E	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	765					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		TTCCAGGCGGGACAGCATTTT	0.607																																						uc002ppj.2		NaN																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(2293-2295)GGA>GAA		carnitine palmitoyltransferase 1C isoform 2							92.0	80.0	84.0					19																	50216744		2203	4300	6503	SO:0001583	missense	126129				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr19:50216744G>A	AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.2294G>A	19.37:g.50216744G>A	ENSP00000376303:p.Gly765Glu					CPT1C_uc002ppk.2_Missense_Mutation_p.G754E|CPT1C_uc010eng.2_Missense_Mutation_p.G765E|CPT1C_uc010enh.2_Missense_Mutation_p.G765E|CPT1C_uc010eni.1_Missense_Mutation_p.G333E	p.G765E	NM_152359	NP_689572	Q8TCG5	CPT1C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)	19	2499	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	765			Cytoplasmic (Potential).		A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Missense_Mutation	SNP	ENST00000392518.4	37	c.2294G>A	CCDS12779.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.608288	0.28623	.	.	ENSG00000169169	ENST00000392518;ENST00000354199;ENST00000405931;ENST00000323446	D;D;D;D	0.84146	-1.81;-1.75;-1.81;-1.81	3.76	1.6	0.23607	.	0.383814	0.19165	N	0.121087	T	0.61776	0.2374	N	0.08118	0	0.09310	N	1	B;B	0.30709	0.291;0.093	B;B	0.29267	0.1;0.017	T	0.56347	-0.7994	10	0.02654	T	1	.	6.1609	0.20364	0.2336:0.0:0.7664:0.0	.	754;765	Q8TCG5-2;Q8TCG5	.;CPT1C_HUMAN	E	765;676;754;765	ENSP00000376303:G765E;ENSP00000346138:G676E;ENSP00000384465:G754E;ENSP00000319343:G765E	ENSP00000319343:G765E	G	+	2	0	CPT1C	54908556	0.973000	0.33851	0.002000	0.10522	0.408000	0.30992	3.524000	0.53495	0.570000	0.29347	0.313000	0.20887	GGA		0.607	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465873.1		NM_152359		23	101	0	0	0	0.125774	0	23	101		
ZNF836	162962	broad.mit.edu	37	19	52659075	52659075	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr19:52659075C>A	ENST00000322146.8	-	5	2382	c.1861G>T	c.(1861-1863)Gac>Tac	p.D621Y	CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Missense_Mutation_p.D621Y	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	621					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TTTCCACTGTCATTGAAGACC	0.423																																						uc010ydi.1		NaN																	0					0						c.(1861-1863)GAC>TAC		zinc finger protein 836							121.0	132.0	128.0					19																	52659075		2129	4272	6401	SO:0001583	missense	162962				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52659075C>A	BC011784	CCDS46162.1	19q13.33	2013-01-08			ENSG00000196267	ENSG00000196267		"""Zinc fingers, C2H2-type"", ""-"""	34333	protein-coding gene	gene with protein product							Standard	NM_001102657		Approved	FLJ16287	uc010ydj.2	Q6ZNA1		ENST00000322146.8:c.1861G>T	19.37:g.52659075C>A	ENSP00000325038:p.Asp621Tyr					ZNF836_uc010ydj.1_Missense_Mutation_p.D621Y	p.D621Y	NM_001102657	NP_001096127	Q6ZNA1	ZN836_HUMAN			5	2235	-			621			C2H2-type 15.			Missense_Mutation	SNP	ENST00000322146.8	37	c.1861G>T	CCDS46162.1	.	.	.	.	.	.	.	.	.	.	C	7.946	0.743917	0.15642	.	.	ENSG00000196267	ENST00000322146	T	0.55052	0.54	2.09	-4.17	0.03857	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.25717	0.0626	N	0.04320	-0.23	0.09310	N	1	P	0.51147	0.942	P	0.51866	0.682	T	0.18967	-1.0320	9	0.02654	T	1	.	1.3539	0.02178	0.1848:0.3995:0.1578:0.2579	.	621	Q6ZNA1	ZN836_HUMAN	Y	621	ENSP00000325038:D621Y	ENSP00000325038:D621Y	D	-	1	0	ZNF836	57350887	0.000000	0.05858	0.000000	0.03702	0.391000	0.30476	-6.708000	0.00056	-1.108000	0.03000	-0.516000	0.04426	GAC		0.423	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462456.1		NM_001102657		4	148	1	0	3.59834e-05	0.021553	3.84368e-05	4	148		
ZNF83	55769	broad.mit.edu	37	19	53116804	53116804	+	Silent	SNP	G	G	A	rs192432041	byFrequency	TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr19:53116804G>A	ENST00000597597.1	-	2	3267	c.1014C>T	c.(1012-1014)atC>atT	p.I338I	ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000391789.4_Silent_p.I310I|ZNF83_ENST00000545872.1_Silent_p.I338I|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000541777.2_Silent_p.I338I|ZNF83_ENST00000544146.1_Silent_p.I338I|ZNF83_ENST00000301096.3_Silent_p.I338I|ZNF83_ENST00000536937.1_Silent_p.I338I			P51522	ZNF83_HUMAN	zinc finger protein 83	338					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I338I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		CTCCAGTGTGGATTCTCCAGT	0.413													A|||	3	0.000599042	0.0	0.0014	5008	,	,		22957	0.001		0.001	False		,,,				2504	0.0					uc002pzu.3		NaN																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1012-1014)ATC>ATT		zinc finger protein 83 isoform a							120.0	122.0	121.0					19																	53116804		2203	4300	6503	SO:0001819	synonymous_variant	55769					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:53116804G>A	M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"""Zinc fingers, C2H2-type"""	13158	protein-coding gene	gene with protein product		194558	"""zinc finger protein 83 (HPF1)"", ""zinc finger protein 816B"""	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000597597.1:c.1014C>T	19.37:g.53116804G>A						ZNF83_uc002pzv.3_Silent_p.I338I|ZNF83_uc010eps.2_Silent_p.I310I|ZNF83_uc010ept.2_Silent_p.I338I|ZNF83_uc010epu.2_Silent_p.I338I|ZNF83_uc010epv.2_Silent_p.I338I|ZNF83_uc010epw.2_Silent_p.I338I|ZNF83_uc010epx.2_Silent_p.I310I|ZNF83_uc010epy.2_Silent_p.I338I|ZNF83_uc010epz.2_Silent_p.I310I	p.I338I	NM_018300	NP_060770	P51522	ZNF83_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)	2	2258	-			338			C2H2-type 9.		A8MT75|Q3ZCX0|Q6PI08	Silent	SNP	ENST00000597597.1	37	c.1014C>T	CCDS12854.1																																																																																				0.413	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463700.1		NM_018300		5	205	0	0	0	0.021553	0	5	205		
ZNF347	84671	broad.mit.edu	37	19	53644380	53644380	+	Silent	SNP	T	T	C			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr19:53644380T>C	ENST00000334197.7	-	5	1769	c.1701A>G	c.(1699-1701)aaA>aaG	p.K567K	ZNF347_ENST00000452676.2_Silent_p.K568K|ZNF347_ENST00000601469.2_Silent_p.K568K|ZNF347_ENST00000601804.1_Intron	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	567					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		ATTTGTAAGGTTTTTCTCCAG	0.413																																					Melanoma(64;205 1597 17324 45721)	uc002qbb.1		NaN																	0					0						c.(1699-1701)AAA>AAG		zinc finger protein 347							156.0	149.0	152.0					19																	53644380		2203	4298	6501	SO:0001819	synonymous_variant	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53644380T>C	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.1701A>G	19.37:g.53644380T>C						ZNF347_uc010eql.1_Silent_p.K568K|ZNF347_uc002qbc.1_Silent_p.K568K	p.K567K	NM_032584	NP_115973	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	1770	-			567					B3KU77|B9EG59|G5E9N4|Q8TCN1	Silent	SNP	ENST00000334197.7	37	c.1701A>G	CCDS33097.1																																																																																				0.413	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1		NM_032584		6	250	0	0	0	0.02938	0	6	250		
ZNF761	388561	broad.mit.edu	37	19	53958826	53958826	+	RNA	SNP	G	G	A			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr19:53958826G>A	ENST00000454407.1	+	0	1518							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		AACCTTACAAGTGTAATGAGT	0.418																																						uc010eqp.2		NaN																	0				ovary(1)	1						c.(1063-1065)AAG>AAA		zinc finger protein 761							152.0	151.0	151.0					19																	53958826		2203	4300	6503			388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53958826G>A	AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"""Zinc fingers, C2H2-type"""	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53958826G>A						ZNF761_uc010ydy.1_Silent_p.K301K|ZNF761_uc002qbt.1_Silent_p.K301K	p.K355K	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	7	1523	+			355			C2H2-type 6.		Q6ZNB9	Silent	SNP	ENST00000454407.1	37	c.1065G>A																																																																																					0.418	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript			NM_001008401		6	263	0	0	0	0.038147	0	6	263		
ZNF329	79673	broad.mit.edu	37	19	58639722	58639722	+	Silent	SNP	G	G	A			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr19:58639722G>A	ENST00000598312.1	-	4	1382	c.1149C>T	c.(1147-1149)aaC>aaT	p.N383N	ZNF329_ENST00000358067.4_Silent_p.N383N	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	383					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		TGAGGTGAGAGTTTCTGTTGA	0.498																																						uc002qrn.2		NaN																	0				skin(1)	1						c.(1147-1149)AAC>AAT		zinc finger protein 329							86.0	81.0	83.0					19																	58639722		2203	4300	6503	SO:0001819	synonymous_variant	79673				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58639722G>A	AK022648	CCDS12972.1	19q13.43	2013-01-08				ENSG00000181894		"""Zinc fingers, C2H2-type"""	14209	protein-coding gene	gene with protein product							Standard	XM_006723381		Approved	FLJ12586	uc002qrn.3	Q86UD4		ENST00000598312.1:c.1149C>T	19.37:g.58639722G>A						ZNF329_uc010euk.1_RNA|ZNF329_uc002qro.1_RNA|ZNF329_uc002qrp.1_RNA	p.N383N	NM_024620	NP_078896	Q86UD4	ZN329_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)	4	1386	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)	383			C2H2-type 7.		B3KR32|Q9H9R7	Silent	SNP	ENST00000598312.1	37	c.1149C>T	CCDS12972.1																																																																																				0.498	ZNF329-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466724.1		NM_024620		35	102	0	0	0	0.09836	0	35	102		
GPAT2	150763	broad.mit.edu	37	2	96698049	96698049	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr2:96698049C>T	ENST00000434632.1	-	3	518	c.59G>A	c.(58-60)cGa>cAa	p.R20Q	GPAT2_ENST00000488515.1_5'Flank|GPAT2_ENST00000359548.4_Missense_Mutation_p.R20Q|GPAT2_ENST00000453542.1_Missense_Mutation_p.R20Q|GPAT2_ENST00000377137.3_Missense_Mutation_p.R20Q			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	20					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerol-3-phosphate metabolic process (GO:0006072)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						CATTACCTCTCGGCCACTGGG	0.572																																						uc002svf.2		NaN																	0					0						c.(58-60)CGA>CAA		glycerol-3-phosphate acyltransferase 2,							35.0	40.0	38.0					2																	96698049		1892	3970	5862	SO:0001583	missense	150763				glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr2:96698049C>T	BC042847	CCDS42714.1	2q11.2	2010-05-04			ENSG00000186281	ENSG00000186281			27168	protein-coding gene	gene with protein product	"""cancer/testis antigen 123"""					12477932	Standard	NM_207328		Approved	CT123	uc010yuf.1	Q6NUI2	OTTHUMG00000155208	ENST00000434632.1:c.59G>A	2.37:g.96698049C>T	ENSP00000389395:p.Arg20Gln					GPAT2_uc002svg.2_5'UTR|GPAT2_uc010yuh.1_Missense_Mutation_p.R20Q|GPAT2_uc002svh.2_Missense_Mutation_p.R20Q	p.R20Q	NM_207328	NP_997211	Q6NUI2	GPAT2_HUMAN			2	282	-			20					Q6P2E4|Q6ZNI3|Q6ZNI5|Q6ZWJ4	Missense_Mutation	SNP	ENST00000434632.1	37	c.59G>A	CCDS42714.1	.	.	.	.	.	.	.	.	.	.	C	0.877	-0.729908	0.03135	.	.	ENSG00000186281	ENST00000359548;ENST00000434632;ENST00000453542;ENST00000377137;ENST00000439254	T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06	3.62	-7.25	0.01470	.	1.148190	0.06517	N	0.738951	T	0.47173	0.1431	N	0.02315	-0.6	0.09310	N	1	B;B;B	0.12013	0.005;0.003;0.002	B;B;B	0.04013	0.001;0.001;0.001	T	0.44065	-0.9352	10	0.17369	T	0.5	.	9.1936	0.37215	0.0:0.1553:0.1138:0.7309	.	20;20;20	E9PE95;Q6NUI2-3;Q6NUI2	.;.;GPAT2_HUMAN	Q	20	ENSP00000352547:R20Q;ENSP00000389395:R20Q;ENSP00000393770:R20Q;ENSP00000366341:R20Q;ENSP00000401334:R20Q	ENSP00000352547:R20Q	R	-	2	0	GPAT2	96061776	0.000000	0.05858	0.007000	0.13788	0.045000	0.14185	-1.981000	0.01490	-2.004000	0.00961	0.444000	0.29173	CGA		0.572	GPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338786.1		NM_207328		6	44	0	0	0	0.058154	0	6	44		
IL18R1	8809	broad.mit.edu	37	2	103013325	103013325	+	Silent	SNP	G	G	A			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr2:103013325G>A	ENST00000409599.1	+	12	1961	c.1605G>A	c.(1603-1605)ttG>ttA	p.L535L	IL18R1_ENST00000233957.1_Silent_p.L535L			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	535					immune response (GO:0006955)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|signal transduction (GO:0007165)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-18 receptor activity (GO:0042008)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CGGAAGTCTTGCCTGTTCTTT	0.413																																						uc002tbw.3		NaN																	0				ovary(2)|pancreas(1)	3						c.(1603-1605)TTG>TTA		interleukin 18 receptor 1 precursor							38.0	41.0	40.0					2																	103013325		2203	4300	6503	SO:0001819	synonymous_variant	8809				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity	g.chr2:103013325G>A	U43672	CCDS2060.1	2q12	2013-01-29			ENSG00000115604	ENSG00000115604		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5988	protein-coding gene	gene with protein product		604494				8626725, 10191101	Standard	NM_003855		Approved	IL1RRP, IL-1Rrp, CD218a	uc010fiy.3	Q13478	OTTHUMG00000130780	ENST00000409599.1:c.1605G>A	2.37:g.103013325G>A						IL18R1_uc010ywc.1_Silent_p.L534L|IL18R1_uc010ywd.1_Silent_p.L379L|IL18R1_uc010fiy.2_Silent_p.L535L	p.L535L	NM_003855	NP_003846	Q13478	IL18R_HUMAN			11	1755	+			535			Cytoplasmic (Potential).		B2R9Y5|Q52LC9	Silent	SNP	ENST00000409599.1	37	c.1605G>A	CCDS2060.1																																																																																				0.413	IL18R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253294.2		NM_003855		9	21	0	0	0	0.080935	0	9	21		
SULT1C4	27233	broad.mit.edu	37	2	108994731	108994731	+	5'UTR	SNP	C	C	T			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr2:108994731C>T	ENST00000272452.2	+	0	264				SULT1C4_ENST00000409309.3_5'UTR	NM_006588.2	NP_006579.2	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 4						3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						CTATCCACAACGCAGCCATAT	0.488																																						uc002tea.1		NaN																	0					0						c.(-64--60)AACGC>AATGC		sulfotransferase family, cytosolic, 1C, member																																				SO:0001623	5_prime_UTR_variant	27233				3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity	g.chr2:108994731C>T	AF055584	CCDS2077.1	2q12.3	2008-09-04	2007-03-16	2007-03-16	ENSG00000198075	ENSG00000198075		"""Sulfotransferases, cytosolic"""	11457	protein-coding gene	gene with protein product		608357	"""sulfotransferase family, cytosolic, 1C, member 2"""	SULT1C2		10783263, 9852044	Standard	NM_006588		Approved	SULT1C	uc002tea.1	O75897	OTTHUMG00000130958	ENST00000272452.2:c.-63C>T	2.37:g.108994731C>T						SULT1C4_uc002tdz.2_Translation_Start_Site|SULT1C4_uc010ywr.1_RNA|SULT1C4_uc002teb.1_Translation_Start_Site		NM_006588	NP_006579	O75897	ST1C4_HUMAN			1	311	+								Q069I8|Q08AS5|Q53S63	Translation_Start_Site	SNP	ENST00000272452.2	37	c.-62C>T	CCDS2077.1																																																																																				0.488	SULT1C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253561.1		NM_006588		7	29	0	0	0	0.02938	0	7	29		
CHD6	84181	broad.mit.edu	37	20	40049547	40049547	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr20:40049547C>G	ENST00000373233.3	-	31	5905	c.5728G>C	c.(5728-5730)Gat>Cat	p.D1910H		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1910					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TTGGTTTCATCTTGGAAGCCT	0.522																																						uc002xka.1		NaN																	0				ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14						c.(5728-5730)GAT>CAT		chromodomain helicase DNA binding protein 6							151.0	145.0	147.0					20																	40049547		2203	4300	6503	SO:0001583	missense	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40049547C>G	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.5728G>C	20.37:g.40049547C>G	ENSP00000362330:p.Asp1910His						p.D1910H	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN			31	5906	-		Myeloproliferative disorder(115;0.00425)	1910					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.5728G>C	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	C	2.077	-0.411569	0.04799	.	.	ENSG00000124177	ENST00000373233	D	0.85861	-2.04	5.86	3.84	0.44239	.	1.187760	0.05884	N	0.626922	T	0.81113	0.4755	L	0.44542	1.39	0.09310	N	0.999998	B	0.02656	0.0	B	0.04013	0.001	T	0.67405	-0.5679	10	0.59425	D	0.04	-0.3724	7.7399	0.28835	0.0:0.717:0.1292:0.1538	.	1910	Q8TD26	CHD6_HUMAN	H	1910	ENSP00000362330:D1910H	ENSP00000362330:D1910H	D	-	1	0	CHD6	39482961	0.000000	0.05858	0.005000	0.12908	0.008000	0.06430	0.188000	0.17018	1.392000	0.46585	-0.345000	0.07892	GAT		0.522	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1				23	42	0	0	0	0.125774	0	23	42		
PREX1	57580	broad.mit.edu	37	20	47266680	47266680	+	Missense_Mutation	SNP	G	G	A	rs41283554	byFrequency	TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr20:47266680G>A	ENST00000371941.3	-	24	2904	c.2882C>T	c.(2881-2883)cCg>cTg	p.P961L	PREX1_ENST00000396220.1_Missense_Mutation_p.P961L	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	961					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GCCACACAGCGGGTGGGGCTC	0.592													G|||	2	0.000399361	0.0	0.0029	5008	,	,		18960	0.0		0.0	False		,,,				2504	0.0					uc002xtw.1		NaN																	0				lung(3)|ovary(2)|pancreas(1)	6						c.(2881-2883)CCG>CTG		phosphatidylinositol-3,4,		G	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	79.0	89.0	86.0		2882	3.7	0.1	20	dbSNP_127	86	1,8599	2.2+/-6.3	0,1,4299	yes	missense	PREX1	NM_020820.3	98	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	961/1660	47266680	2,13004	2203	4300	6503	SO:0001583	missense	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47266680G>A	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.2882C>T	20.37:g.47266680G>A	ENSP00000361009:p.Pro961Leu					PREX1_uc002xtv.1_Missense_Mutation_p.P258L	p.P961L	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		24	2905	-			961					E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	c.2882C>T	CCDS13410.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	14.21	2.466617	0.43839	2.27E-4	1.16E-4	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.39229	1.09;1.09	5.71	3.72	0.42706	.	0.534996	0.16146	U	0.227508	T	0.29524	0.0736	N	0.20986	0.625	0.29996	N	0.816476	B;B	0.18741	0.03;0.004	B;B	0.15052	0.012;0.006	T	0.24799	-1.0150	10	0.56958	D	0.05	.	11.002	0.47611	0.1536:0.0:0.8464:0.0	rs41283554	961;258	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	L	961	ENSP00000361009:P961L;ENSP00000379522:P961L	ENSP00000361009:P961L	P	-	2	0	PREX1	46700087	0.818000	0.29161	0.117000	0.21633	0.711000	0.40976	2.330000	0.43885	1.373000	0.46208	0.655000	0.94253	CCG		0.592	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1		NM_020820		33	132	0	0	0	0.124865	0	33	132		
IFNAR2	3455	broad.mit.edu	37	21	34621017	34621017	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr21:34621017C>G	ENST00000342136.4	+	6	724	c.398C>G	c.(397-399)tCt>tGt	p.S133C	IFNAR2_ENST00000404220.3_Missense_Mutation_p.S133C|AP000295.9_ENST00000433395.2_Missense_Mutation_p.L41V|IFNAR2_ENST00000382264.3_Missense_Mutation_p.S133C|IFNAR2_ENST00000382241.3_Missense_Mutation_p.S133C|IFNAR2_ENST00000342101.3_Missense_Mutation_p.S133C|IFNAR2_ENST00000413881.1_Missense_Mutation_p.S61C			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2	133					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|type I interferon binding (GO:0019962)|type I interferon receptor activity (GO:0004905)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					"""""""Interferon Alfa-2a(DB00034)|""""Interferon Alfa-2b(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)"""	tGCACAGTGTCTTTTGAACCA	0.373																																						uc002yrd.2		NaN																	0					0						c.(397-399)TCT>TGT		interferon alpha/beta receptor 2 isoform a	Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)						124.0	120.0	121.0					21																	34621017		2203	4300	6503	SO:0001583	missense	3455				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity	g.chr21:34621017C>G		CCDS13621.1, CCDS13622.1, CCDS74782.1	21q22.1	2010-08-17			ENSG00000159110	ENSG00000159110		"""Interferons"""	5433	protein-coding gene	gene with protein product		602376		IFNABR		8181059	Standard	NM_207585		Approved		uc002yrd.3	P48551	OTTHUMG00000065127	ENST00000342136.4:c.398C>G	21.37:g.34621017C>G	ENSP00000343957:p.Ser133Cys					IFNAR2_uc002yrb.2_Missense_Mutation_p.S133C|IFNAR2_uc002yrc.2_Missense_Mutation_p.S133C|IFNAR2_uc002yre.2_Missense_Mutation_p.S133C|IFNAR2_uc002yrf.2_Missense_Mutation_p.S133C|IFNAR2_uc002yrg.2_Missense_Mutation_p.S2C|IL10RB_uc002yrh.1_5'UTR|IL10RB_uc002yri.1_5'UTR	p.S133C	NM_207585	NP_997468	P48551	INAR2_HUMAN			6	726	+			133			Extracellular (Potential).		A8KAJ4|D3DSE8|D3DSE9|Q15467|Q6FHD7	Missense_Mutation	SNP	ENST00000342136.4	37	c.398C>G	CCDS13621.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.32|14.32	2.500981|2.500981	0.44455|0.44455	.|.	.|.	ENSG00000249624|ENSG00000159110	ENST00000433395|ENST00000382264;ENST00000404220;ENST00000382241;ENST00000342136;ENST00000342101;ENST00000413881;ENST00000443073;ENST00000447980	.|T;T;T;T;T;T;T;T	.|0.32988	.|1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.43	4.26|4.26	0.158|0.158	0.14942|0.14942	.|Fibronectin, type III (1);Interferon alpha/beta receptor, beta chain (1);	.|2.091690	.|0.01855	.|N	.|0.036220	T|T	0.42832|0.42832	0.1220|0.1220	L|L	0.54323|0.54323	1.7|1.7	0.09310|0.09310	N|N	1|1	.|D;D;D	.|0.67145	.|0.974;0.973;0.996	.|P;P;P	.|0.62435	.|0.842;0.902;0.901	T|T	0.15809|0.15809	-1.0424|-1.0424	5|10	.|0.39692	.|T	.|0.17	.|.	0.8236|0.8236	0.01116|0.01116	0.2094:0.4054:0.1717:0.2135|0.2094:0.4054:0.1717:0.2135	.|.	.|133;133;133	.|P48551-3;P48551;P48551-2	.|.;INAR2_HUMAN;.	V|C	41|133;133;133;133;133;61;61;157	.|ENSP00000371699:S133C;ENSP00000384309:S133C;ENSP00000371676:S133C;ENSP00000343957:S133C;ENSP00000343289:S133C;ENSP00000413160:S61C;ENSP00000403569:S61C;ENSP00000402311:S157C	.|ENSP00000343289:S133C	L|S	+|+	1|2	0|0	AP000295.9|IFNAR2	33542887|33542887	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.279000|0.279000	0.26890|0.26890	-1.110000|-1.110000	0.03306|0.03306	0.131000|0.131000	0.18576|0.18576	0.573000|0.573000	0.79308|0.79308	CTT|TCT		0.373	IFNAR2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139825.1				17	80	0	0	0	0.043863	0	17	80		
EDEM1	9695	broad.mit.edu	37	3	5249807	5249807	+	Silent	SNP	C	C	T			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr3:5249807C>T	ENST00000256497.4	+	8	1501	c.1368C>T	c.(1366-1368)atC>atT	p.I456I	EDEM1_ENST00000445686.1_Silent_p.I261I	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	456					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	calcium ion binding (GO:0005509)|misfolded protein binding (GO:0051787)	p.I456M(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		AAGATGCCATCTGCCTTCATG	0.512																																						uc003bqi.2		NaN																	1	Substitution - Missense(1)		NS(1)	ovary(2)|breast(1)	3						c.(1366-1368)ATC>ATT		ER degradation enhancer, mannosidase alpha-like							255.0	212.0	227.0					3																	5249807		2203	4300	6503	SO:0001819	synonymous_variant	9695				ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr3:5249807C>T	D86967	CCDS33686.1	3p26.1	2008-02-05			ENSG00000134109	ENSG00000134109			18967	protein-coding gene	gene with protein product		607673				12610306	Standard	NM_014674		Approved	KIAA0212, EDEM	uc003bqi.3	Q92611	OTTHUMG00000154896	ENST00000256497.4:c.1368C>T	3.37:g.5249807C>T						EDEM1_uc011asz.1_Silent_p.I234I|EDEM1_uc003bqh.2_Silent_p.I456I	p.I456I	NM_014674	NP_055489	Q92611	EDEM1_HUMAN		Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)	8	1500	+			456			Lumenal (Potential).		A8K9C8|B4DXP3	Silent	SNP	ENST00000256497.4	37	c.1368C>T	CCDS33686.1																																																																																				0.512	EDEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337566.2		NM_014674		47	93	0	0	0	0.139131	0	47	93		
IRAK2	3656	broad.mit.edu	37	3	10264330	10264330	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr3:10264330T>G	ENST00000256458.4	+	9	1114	c.1024T>G	c.(1024-1026)Ttg>Gtg	p.L342V		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	342	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						CTCTAATGTCTTGCTGGACCA	0.453																																						uc003bve.1		NaN																	0				lung(5)|breast(3)	8						c.(1024-1026)TTG>GTG		interleukin-1 receptor-associated kinase 2							171.0	160.0	164.0					3																	10264330		2203	4300	6503	SO:0001583	missense	3656				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity	g.chr3:10264330T>G	AF026273	CCDS33697.1	3p25.2	2008-08-18			ENSG00000134070	ENSG00000134070			6113	protein-coding gene	gene with protein product		603304				9374458	Standard	XR_245126		Approved		uc003bve.1	O43187	OTTHUMG00000155358	ENST00000256458.4:c.1024T>G	3.37:g.10264330T>G	ENSP00000256458:p.Leu342Val						p.L342V	NM_001570	NP_001561	O43187	IRAK2_HUMAN			9	1100	+			342			Protein kinase.		B4DQZ6|Q08AG6|Q5K546	Missense_Mutation	SNP	ENST00000256458.4	37	c.1024T>G	CCDS33697.1	.	.	.	.	.	.	.	.	.	.	T	13.31	2.197671	0.38806	.	.	ENSG00000134070	ENST00000256458	T	0.64260	-0.09	5.28	-3.22	0.05125	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.37857	N	0.001912	D	0.84092	0.5396	H	0.98866	4.355	0.27596	N	0.949139	D	0.89917	1.0	D	0.87578	0.998	T	0.77864	-0.2429	10	0.87932	D	0	-14.9463	11.5611	0.50776	0.0:0.5571:0.0:0.4429	.	342	O43187	IRAK2_HUMAN	V	342	ENSP00000256458:L342V	ENSP00000256458:L342V	L	+	1	2	IRAK2	10239330	0.972000	0.33761	0.252000	0.24328	0.340000	0.28889	0.337000	0.19841	-0.478000	0.06823	-0.290000	0.09829	TTG		0.453	IRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339623.1				64	259	0	0	0	0.139131	0	64	259		
SEC13	6396	broad.mit.edu	37	3	10342968	10342968	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr3:10342968C>G	ENST00000350697.3	-	9	1071	c.946G>C	c.(946-948)Gag>Cag	p.E316Q	SEC13_ENST00000397109.3_Missense_Mutation_p.E302Q|SEC13_ENST00000397117.1_Intron|SEC13_ENST00000492602.1_Intron|SEC13_ENST00000337354.4_Missense_Mutation_p.E319Q|SEC13_ENST00000383801.2_Missense_Mutation_p.E362Q	NM_183352.1	NP_899195.1	P55735	SEC13_HUMAN	SEC13 homolog (S. cerevisiae)	316					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						TGCTGGCCCTCTGTCACTGAT	0.607																																						uc003bvn.2		NaN																	0				ovary(1)	1						c.(946-948)GAG>CAG		SEC13 protein isoform 1							120.0	96.0	104.0					3																	10342968		2203	4300	6503	SO:0001583	missense	6396				COPII vesicle coating|intracellular protein transport|mitotic prometaphase|mRNA transport|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport	cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Nup107-160 complex	protein binding	g.chr3:10342968C>G		CCDS2599.1, CCDS46751.1, CCDS63540.1	3p25-p24	2013-01-10	2006-11-07	2006-11-07	ENSG00000157020	ENSG00000157020		"""WD repeat domain containing"""	10697	protein-coding gene	gene with protein product		600152	"""SEC13 (S. cerevisiae)-like 1"", ""SEC13-like 1 (S. cerevisiae)"""	D3S1231E, SEC13L1		7987303	Standard	NM_183352		Approved	SEC13R, npp-20	uc003bvn.3	P55735	OTTHUMG00000128671	ENST00000350697.3:c.946G>C	3.37:g.10342968C>G	ENSP00000312122:p.Glu316Gln					SEC13_uc003bvl.2_Missense_Mutation_p.E248Q|SEC13_uc003bvm.2_Missense_Mutation_p.E302Q|SEC13_uc003bvp.2_Missense_Mutation_p.E319Q|SEC13_uc003bvo.2_Missense_Mutation_p.E362Q|SEC13_uc003bvq.1_Intron	p.E316Q	NM_183352	NP_899195	P55735	SEC13_HUMAN			9	1065	-			316					A8MV37|B4DXJ1|Q5BJF0|Q9BRM6|Q9BUG7	Missense_Mutation	SNP	ENST00000350697.3	37	c.946G>C	CCDS2599.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.345435	0.61073	.	.	ENSG00000157020	ENST00000397109;ENST00000337354;ENST00000350697;ENST00000383801	T;T;T;T	0.69306	0.88;-0.26;-0.39;-0.32	5.23	5.23	0.72850	.	0.288120	0.41001	D	0.000976	T	0.51924	0.1703	N	0.25647	0.755	0.53688	D	0.999979	P;B	0.38395	0.629;0.0	B;B	0.32465	0.146;0.001	T	0.53056	-0.8492	10	0.29301	T	0.29	.	16.3231	0.82958	0.0:1.0:0.0:0.0	.	362;316	B4DXJ1;P55735	.;SEC13_HUMAN	Q	302;319;316;362	ENSP00000380298:E302Q;ENSP00000336566:E319Q;ENSP00000312122:E316Q;ENSP00000373312:E362Q	ENSP00000336566:E319Q	E	-	1	0	SEC13	10317968	1.000000	0.71417	0.998000	0.56505	0.843000	0.47879	7.696000	0.84270	2.433000	0.82419	0.655000	0.94253	GAG		0.607	SEC13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250563.3				24	236	0	0	0	0.125774	0	24	236		
ZNF860	344787	broad.mit.edu	37	3	32031962	32031962	+	Missense_Mutation	SNP	A	A	G	rs1808125	byFrequency	TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr3:32031962A>G	ENST00000360311.4	+	2	1940	c.1391A>G	c.(1390-1392)cAt>cGt	p.H464R		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	464					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|lung(4)|ovary(1)	8						AAGACCTTCCATCACAATTCA	0.418													a|||	3114	0.621805	0.9054	0.4813	5008	,	,		19471	0.7599		0.2773	False		,,,				2504	0.5501					uc011axg.1		NaN																	0				ovary(1)	1						c.(1390-1392)CAT>CGT		zinc finger protein 860							22.0	58.0	48.0					3																	32031962		627	1568	2195	SO:0001583	missense	344787				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:32031962A>G	AK294003	CCDS46784.1	3p24.1	2013-01-08			ENSG00000197385	ENSG00000197385		"""Zinc fingers, C2H2-type"", ""-"""	34513	protein-coding gene	gene with protein product							Standard	NM_001137674		Approved		uc011axg.2	A6NHJ4	OTTHUMG00000155838	ENST00000360311.4:c.1391A>G	3.37:g.32031962A>G	ENSP00000373274:p.His464Arg						p.H464R	NM_001137674	NP_001131146	A6NHJ4	ZN860_HUMAN			2	1940	+			464			C2H2-type 9.		B4DFA4	Missense_Mutation	SNP	ENST00000360311.4	37	c.1391A>G	CCDS46784.1	991	0.45375457875457875	324	0.6585365853658537	145	0.4005524861878453	368	0.6433566433566433	154	0.20316622691292877	a	0.169	-1.073378	0.01918	.	.	ENSG00000197385	ENST00000360311	T	0.17370	2.28	0.3	-0.599	0.11645	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00012	0.0000	N	0.00399	-1.545	0.80722	P	0.0	B	0.11235	0.004	B	0.04013	0.001	T	0.42032	-0.9475	7	.	.	.	.	4.0852	0.09943	0.2146:0.4157:0.3696:0.0	rs1808125;rs60384157	464	A6NHJ4	ZN860_HUMAN	R	464	ENSP00000373274:H464R	.	H	+	2	0	ZNF860	32006966	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.083000	0.03397	-3.961000	0.00087	-3.988000	0.00014	CAT		0.418	ZNF860-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341957.1				4	110	0	0	0	0.021553	0	4	110		
PDCD6IP	10015	broad.mit.edu	37	3	33870428	33870428	+	Silent	SNP	G	G	A			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr3:33870428G>A	ENST00000307296.3	+	7	1178	c.801G>A	c.(799-801)caG>caA	p.Q267Q	PDCD6IP_ENST00000457054.2_Silent_p.Q272Q			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	267	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.|Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						CAAAACAGCAGAAGAAATTTG	0.388																																						uc003cfx.2		NaN																	0				ovary(1)|skin(1)	2						c.(799-801)CAG>CAA		programmed cell death 6 interacting protein							109.0	108.0	108.0					3																	33870428		2203	4300	6503	SO:0001819	synonymous_variant	10015				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding	g.chr3:33870428G>A	BC020066	CCDS2660.1, CCDS54561.1	3p22.3	2012-08-30	2001-11-29		ENSG00000170248	ENSG00000170248			8766	protein-coding gene	gene with protein product	"""ALG-2 interacting protein X"""	608074	"""programmed cell death 6-interacting protein"""			9880530	Standard	NM_001162429		Approved	Alix, AIP1, Hp95	uc003cfy.4	Q8WUM4	OTTHUMG00000130751	ENST00000307296.3:c.801G>A	3.37:g.33870428G>A						PDCD6IP_uc003cfy.2_Silent_p.Q272Q|PDCD6IP_uc011axw.1_Silent_p.Q48Q	p.Q267Q	NM_013374	NP_037506	Q8WUM4	PDC6I_HUMAN			7	956	+			267			Interaction with EIAV p9.|Interaction with CHMP4A, CHMP4B and CHMP4C.|BRO1.		C5MQH7|E9PFU1|Q6NUS1|Q9BX86|Q9NUN0|Q9P2H2|Q9UKL5	Silent	SNP	ENST00000307296.3	37	c.801G>A	CCDS2660.1																																																																																				0.388	PDCD6IP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253251.2				13	43	0	0	0	0.0333	0	13	43		
COL6A6	131873	broad.mit.edu	37	3	130285707	130285707	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr3:130285707G>A	ENST00000358511.6	+	4	1475	c.1444G>A	c.(1444-1446)Gac>Aac	p.D482N	COL6A6_ENST00000453409.2_Missense_Mutation_p.D482N	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	482	Nonhelical region.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TCAGTATGCTGACAGCTGGGA	0.478																																						uc010htl.2		NaN																	0				ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.(1444-1446)GAC>AAC		collagen type VI alpha 6 precursor							129.0	131.0	130.0					3																	130285707		1921	4116	6037	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130285707G>A	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.1444G>A	3.37:g.130285707G>A	ENSP00000351310:p.Asp482Asn						p.D482N	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			4	1475	+			482			VWFA 3.|Nonhelical region.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.1444G>A	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	12.20	1.866494	0.32977	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	T;T	0.79749	-1.3;-1.3	5.18	2.06	0.26882	von Willebrand factor, type A (3);	0.394611	0.24222	N	0.040437	T	0.72503	0.3468	L	0.60067	1.865	0.09310	N	1	B	0.30763	0.294	B	0.29942	0.109	T	0.60772	-0.7197	10	0.32370	T	0.25	.	7.71	0.28671	0.1499:0.2283:0.6218:0.0	.	482	A6NMZ7	CO6A6_HUMAN	N	482	ENSP00000351310:D482N;ENSP00000399236:D482N	ENSP00000351310:D482N	D	+	1	0	COL6A6	131768397	0.001000	0.12720	0.120000	0.21714	0.975000	0.68041	0.447000	0.21710	1.154000	0.42482	0.561000	0.74099	GAC		0.478	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5		NM_001102608		27	124	0	0	0	0.059317	0	27	124		
PXYLP1	92370	broad.mit.edu	37	3	141011518	141011518	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr3:141011518A>G	ENST00000286353.4	+	6	1051	c.914A>G	c.(913-915)aAt>aGt	p.N305S	ACPL2_ENST00000393010.2_Missense_Mutation_p.N305S|RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000393007.1_Missense_Mutation_p.N289S|ACPL2_ENST00000502783.1_Missense_Mutation_p.N267S|ACPL2_ENST00000504264.1_Missense_Mutation_p.N288S|ACPL2_ENST00000508812.1_Missense_Mutation_p.N296S	NM_001037172.1|NM_001282728.1	NP_001032249.1|NP_001269657.1	Q8TE99	PXYP1_HUMAN		305						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						TTCTGCCACAATGTCAGCTTT	0.517																																						uc003etu.2		NaN																	0				skin(1)	1						c.(913-915)AAT>AGT		acid phosphatase-like 2 precursor							79.0	79.0	79.0					3																	141011518		2203	4300	6503	SO:0001583	missense	92370					extracellular region	acid phosphatase activity	g.chr3:141011518A>G																												ENST00000286353.4:c.914A>G	3.37:g.141011518A>G	ENSP00000286353:p.Asn305Ser					ACPL2_uc003etv.2_Missense_Mutation_p.N305S|ACPL2_uc011bna.1_Missense_Mutation_p.N267S|ACPL2_uc011bnb.1_Missense_Mutation_p.N288S	p.N305S	NM_152282	NP_689495	Q8TE99	ACPL2_HUMAN			8	1213	+			305					D3DNF5|Q49AJ2|W0TR04	Missense_Mutation	SNP	ENST00000286353.4	37	c.914A>G	CCDS3116.1	.	.	.	.	.	.	.	.	.	.	A	18.00	3.524784	0.64747	.	.	ENSG00000155893	ENST00000286353;ENST00000502783;ENST00000393010;ENST00000504264;ENST00000508812;ENST00000393007;ENST00000332228	T;T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2;-1.2;-1.2	5.58	5.58	0.84498	.	0.100586	0.64402	D	0.000001	D	0.83271	0.5218	M	0.67953	2.075	0.44000	D	0.996709	P;D	0.56968	0.826;0.978	P;P	0.57911	0.551;0.829	T	0.81616	-0.0852	10	0.27785	T	0.31	.	13.7103	0.62665	1.0:0.0:0.0:0.0	.	288;305	B7Z3R9;Q8TE99	.;ACPL2_HUMAN	S	305;267;305;288;296;289;113	ENSP00000286353:N305S;ENSP00000422558:N267S;ENSP00000376733:N305S;ENSP00000426877:N288S;ENSP00000422901:N296S;ENSP00000376731:N289S	ENSP00000286353:N305S	N	+	2	0	ACPL2	142494208	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.930000	0.70104	2.116000	0.64780	0.454000	0.30748	AAT		0.517	ACPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359533.2				12	79	0	0	0	0.105934	0	12	79		
LSG1	55341	broad.mit.edu	37	3	194373664	194373664	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr3:194373664C>T	ENST00000265245.5	-	8	1281	c.967G>A	c.(967-969)Gaa>Aaa	p.E323K		NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	323	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				GTP catabolic process (GO:0006184)|nuclear export (GO:0051168)|protein transport (GO:0015031)|ribosome biogenesis (GO:0042254)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		CCGTCTTCTTCTGAGCACGTC	0.527																																						uc003fui.2		NaN																	0					0						c.(967-969)GAA>AAA		large subunit GTPase 1							146.0	140.0	142.0					3																	194373664		2203	4300	6503	SO:0001583	missense	55341				nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity	g.chr3:194373664C>T		CCDS33922.1	3q29	2013-08-21	2013-08-21		ENSG00000041802	ENSG00000041802			25652	protein-coding gene	gene with protein product		610780	"""large subunit GTPase 1 homolog (S. cerevisiae)"""			11230166	Standard	NM_018385		Approved	FLJ11301	uc003fui.3	Q9H089	OTTHUMG00000156021	ENST00000265245.5:c.967G>A	3.37:g.194373664C>T	ENSP00000265245:p.Glu323Lys						p.E323K	NM_018385	NP_060855	Q9H089	LSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)	8	1282	-	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		323					A0JLT4|A0PJK3|A6NI18|Q7L9H8|Q9NUK8	Missense_Mutation	SNP	ENST00000265245.5	37	c.967G>A	CCDS33922.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.379168	0.82682	.	.	ENSG00000041802	ENST00000265245	T	0.14391	2.51	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.30417	0.0764	L	0.49778	1.585	0.53688	D	0.999975	D	0.89917	1.0	D	0.69142	0.962	T	0.01114	-1.1447	10	0.13108	T	0.6	.	19.0415	0.93002	0.0:1.0:0.0:0.0	.	323	Q9H089	LSG1_HUMAN	K	323	ENSP00000265245:E323K	ENSP00000265245:E323K	E	-	1	0	LSG1	195854953	1.000000	0.71417	0.990000	0.47175	0.188000	0.23474	7.019000	0.76412	2.840000	0.97914	0.655000	0.94253	GAA		0.527	LSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342740.1		NM_018385		4	70	0	0	0	0.009096	0	4	70		
MUC4	4585	broad.mit.edu	37	3	195512118	195512118	+	Silent	SNP	G	G	A	rs199976782		TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr3:195512118G>A	ENST00000463781.3	-	2	6792	c.6333C>T	c.(6331-6333)acC>acT	p.T2111T	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.T2111T|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CATGAAGAGCGGTGGCGTGAC	0.572																																						uc011bto.1		NaN																	0					0						c.(6331-6333)ACC>ACT		mucin 4 isoform a		G	,,	7,1375		0,7,684	72.0	61.0	64.0		,6333,		0.0	3		64	76,3104		0,76,1514	no	intron,coding-synonymous,intron	MUC4	NM_004532.5,NM_018406.6,NM_138297.4	,,	0,83,2198	AA,AG,GG		2.3899,0.5065,1.8194	,,	,2111/5413,	195512118	83,4479	691	1590	2281	SO:0001819	synonymous_variant	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195512118G>A	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.6333C>T	3.37:g.195512118G>A						MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron	p.T2111T	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	6793	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	886			Ser-rich.		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	c.6333C>T	CCDS54700.1																																																																																				0.572	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406		3	5	0	0	0	0.115264	0	3	5		
BMP2K	55589	broad.mit.edu	37	4	79832995	79832995	+	Silent	SNP	C	C	T			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr4:79832995C>T	ENST00000335016.5	+	16	3460	c.3294C>T	c.(3292-3294)gtC>gtT	p.V1098V	PAQR3_ENST00000295462.3_Intron|PAQR3_ENST00000515541.1_5'Flank	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	1098					regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						ACAATACTGTCCTGCCAGGGC	0.517																																						uc003hlk.2		NaN																	0				lung(1)	1						c.(3292-3294)GTC>GTT		BMP-2 inducible kinase isoform a							84.0	80.0	82.0					4																	79832995		1969	4168	6137	SO:0001819	synonymous_variant	55589					nucleus	ATP binding|protein serine/threonine kinase activity	g.chr4:79832995C>T	AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.3294C>T	4.37:g.79832995C>T						PAQR3_uc003hlm.2_Intron|PAQR3_uc003hln.2_Intron|uc010ijm.1_5'Flank	p.V1098V	NM_198892	NP_942595	Q9NSY1	BMP2K_HUMAN			16	3460	+			1098					O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Silent	SNP	ENST00000335016.5	37	c.3294C>T	CCDS47083.1	.	.	.	.	.	.	.	.	.	.	C	3.517	-0.098656	0.07010	.	.	ENSG00000138756	ENST00000502613	.	.	.	5.41	-0.457	0.12186	.	.	.	.	.	T	0.23846	0.0577	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.27123	-1.0083	4	.	.	.	-3.0925	4.9029	0.13784	0.118:0.547:0.1885:0.1465	.	.	.	.	S	791	.	.	P	+	1	0	BMP2K	80052019	0.002000	0.14202	0.103000	0.21229	0.970000	0.65996	-0.452000	0.06787	-0.046000	0.13446	0.484000	0.47621	CCT		0.517	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_017593		5	46	0	0	0	0.02938	0	5	46		
HNRNPDL	9987	broad.mit.edu	37	4	83348369	83348369	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr4:83348369C>T	ENST00000295470.5	-	5	1170	c.995G>A	c.(994-996)cGa>cAa	p.R332Q	HNRNPDL_ENST00000602300.1_Missense_Mutation_p.R213Q|HNRNPDL_ENST00000514511.1_5'UTR|HNRNPDL_ENST00000349655.4_Missense_Mutation_p.R213Q|HNRNPDL_ENST00000502762.1_Missense_Mutation_p.R332Q	NM_001207000.1|NM_031372.3	NP_001193929.1|NP_112740.1	O14979	HNRDL_HUMAN	heterogeneous nuclear ribonucleoprotein D-like	332	Gly-rich.				regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|single-stranded DNA binding (GO:0003697)										CGTACCACCTCGTCCACCAGC	0.438																																						uc003hmr.2		NaN																	0				skin(1)	1						c.(994-996)CGA>CAA		heterogeneous nuclear ribonucleoprotein D-like							165.0	176.0	172.0					4																	83348369		2203	4300	6503	SO:0001583	missense	9987				regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	cytoplasm|heterogeneous nuclear ribonucleoprotein complex	double-stranded DNA binding|nucleotide binding|poly(A) RNA binding|protein binding|single-stranded DNA binding	g.chr4:83348369C>T	D89092	CCDS3593.1, CCDS75153.1	4q21.22	2013-06-12		2013-06-12	ENSG00000152795	ENSG00000152795		"""RNA binding motif (RRM) containing"""	5037	protein-coding gene	gene with protein product		607137		HNRPDL		10072754, 9524220	Standard	NM_001207000		Approved	JKTBP, laAUF1	uc003hmr.3	O14979	OTTHUMG00000130299	ENST00000295470.5:c.995G>A	4.37:g.83348369C>T	ENSP00000295470:p.Arg332Gln					HNRPDL_uc003hmq.2_RNA|HNRPDL_uc003hms.2_RNA|HNRPDL_uc003hmt.2_Missense_Mutation_p.R332Q	p.R332Q	NM_031372	NP_112740	O14979	HNRDL_HUMAN			5	1530	-		Hepatocellular(203;0.114)	332			Gly-rich.		Q6SPF2|Q7KZ74|Q7KZ75|Q96IM0|Q96S43	Missense_Mutation	SNP	ENST00000295470.5	37	c.995G>A	CCDS3593.1	.	.	.	.	.	.	.	.	.	.	c	17.44	3.389535	0.61956	.	.	ENSG00000152795	ENST00000295470;ENST00000502762;ENST00000349655	T;T;D	0.84660	-0.92;-0.92;-1.88	5.74	5.74	0.90152	.	0.000000	0.56097	D	0.000023	D	0.85673	0.5751	L	0.54323	1.7	0.58432	D	0.999996	D;D	0.65815	0.988;0.995	B;P	0.47864	0.294;0.559	T	0.81940	-0.0703	10	0.19147	T	0.46	.	20.2825	0.98528	0.0:1.0:0.0:0.0	.	213;332	O14979-3;O14979	.;HNRDL_HUMAN	Q	332;332;213	ENSP00000295470:R332Q;ENSP00000422040:R332Q;ENSP00000338552:R213Q	ENSP00000295470:R332Q	R	-	2	0	HNRPDL	83567393	1.000000	0.71417	0.990000	0.47175	0.049000	0.14656	7.345000	0.79337	2.873000	0.98535	0.561000	0.74099	CGA		0.438	HNRNPDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252644.1		NM_005463		66	165	0	0	0	0.139131	0	66	165		
OTUD4	54726	broad.mit.edu	37	4	146059006	146059006	+	Missense_Mutation	SNP	G	G	A	rs558808115		TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr4:146059006G>A	ENST00000447906.2	-	21	3108	c.2921C>T	c.(2920-2922)aCt>aTt	p.T974I	OTUD4_ENST00000454497.2_Missense_Mutation_p.T909I|OTUD4_ENST00000455611.2_Intron			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	974					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					AACAGGCACAGTTTCTCTCTC	0.463																																						uc003ika.3		NaN																	0				ovary(2)|breast(1)	3						c.(2725-2727)ACT>ATT		OTU domain containing 4 protein isoform 3							128.0	133.0	131.0					4																	146059006		2203	4300	6503	SO:0001583	missense	54726						protein binding	g.chr4:146059006G>A		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.2921C>T	4.37:g.146059006G>A	ENSP00000395487:p.Thr974Ile					OTUD4_uc003ijz.3_Missense_Mutation_p.T908I	p.T909I	NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN			21	2864	-	all_hematologic(180;0.151)		973					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	ENST00000447906.2	37	c.2726C>T		.	.	.	.	.	.	.	.	.	.	G	13.28	2.191504	0.38707	.	.	ENSG00000164164	ENST00000454497;ENST00000447906	T;T	0.34275	1.37;1.37	6.17	5.33	0.75918	.	1.059000	0.07258	N	0.867023	T	0.32793	0.0841	N	0.24115	0.695	0.80722	D	1	B;B	0.13145	0.007;0.004	B;B	0.14023	0.01;0.004	T	0.02275	-1.1184	10	0.59425	D	0.04	-0.3286	15.5098	0.75772	0.0658:0.0:0.9342:0.0	.	974;973	G3V0I6;Q01804	.;OTUD4_HUMAN	I	909;974	ENSP00000409279:T909I;ENSP00000395487:T974I	ENSP00000395487:T974I	T	-	2	0	OTUD4	146278456	0.027000	0.19231	0.108000	0.21378	0.880000	0.50808	2.210000	0.42816	1.621000	0.50320	0.655000	0.94253	ACT		0.463	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2		NM_017493		10	71	0	0	0	0.09319	0	10	71		
OTUD4	54726	broad.mit.edu	37	4	146059041	146059041	+	Silent	SNP	A	A	G			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr4:146059041A>G	ENST00000447906.2	-	21	3073	c.2886T>C	c.(2884-2886)caT>caC	p.H962H	OTUD4_ENST00000454497.2_Silent_p.H897H|OTUD4_ENST00000455611.2_Intron			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	962					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					GAGTGGGAGGATGAGCCTTTC	0.478																																						uc003ika.3		NaN																	0				ovary(2)|breast(1)	3						c.(2689-2691)CAT>CAC		OTU domain containing 4 protein isoform 3							118.0	118.0	118.0					4																	146059041		2203	4300	6503	SO:0001819	synonymous_variant	54726						protein binding	g.chr4:146059041A>G		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.2886T>C	4.37:g.146059041A>G						OTUD4_uc003ijz.3_Silent_p.H896H	p.H897H	NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN			21	2829	-	all_hematologic(180;0.151)		961					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Silent	SNP	ENST00000447906.2	37	c.2691T>C																																																																																					0.478	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2		NM_017493		9	86	0	0	0	0.080935	0	9	86		
HCN1	348980	broad.mit.edu	37	5	45262592	45262592	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr5:45262592C>T	ENST00000303230.4	-	8	2161	c.2104G>A	c.(2104-2106)Gcg>Acg	p.A702T		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	702					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CTGCAGACCGCGGTGGTGTAG	0.642																																						uc003jok.2		NaN																	0				ovary(1)	1						c.(2104-2106)GCG>ACG		hyperpolarization activated cyclic							65.0	63.0	64.0					5																	45262592		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262592C>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2104G>A	5.37:g.45262592C>T	ENSP00000307342:p.Ala702Thr						p.A702T	NM_021072	NP_066550	O60741	HCN1_HUMAN			8	2129	-			702			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000303230.4	37	c.2104G>A	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.112593	0.56398	.	.	ENSG00000164588	ENST00000303230	T	0.76448	-1.02	5.39	5.39	0.77823	.	0.292882	0.27991	N	0.017024	T	0.70176	0.3194	L	0.55481	1.735	0.51233	D	0.999911	P	0.40144	0.704	B	0.28139	0.086	T	0.69910	-0.5017	10	0.18710	T	0.47	.	19.1659	0.93557	0.0:1.0:0.0:0.0	.	702	O60741	HCN1_HUMAN	T	702	ENSP00000307342:A702T	ENSP00000307342:A702T	A	-	1	0	HCN1	45298349	0.998000	0.40836	0.159000	0.22649	0.977000	0.68977	3.853000	0.55941	2.528000	0.85240	0.563000	0.77884	GCG		0.642	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1		NM_021072		15	4	0	0	0	0.0333	0	15	4		
DDX4	54514	broad.mit.edu	37	5	55088541	55088541	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr5:55088541G>A	ENST00000505374.1	+	17	1467	c.1375G>A	c.(1375-1377)Gaa>Aaa	p.E459K	DDX4_ENST00000511853.1_Missense_Mutation_p.E310K|DDX4_ENST00000353507.5_Missense_Mutation_p.E425K|DDX4_ENST00000514278.2_Missense_Mutation_p.E439K|DDX4_ENST00000354991.5_Missense_Mutation_p.E425K	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	459	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				TTTTGGTCCAGAAATGAAGAA	0.378																																						uc003jqg.3		NaN																	0				ovary(1)|skin(1)	2						c.(1375-1377)GAA>AAA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 isoform							77.0	75.0	76.0					5																	55088541		2203	4300	6503	SO:0001583	missense	54514				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:55088541G>A	AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670		"""DEAD-boxes"""	18700	protein-coding gene	gene with protein product		605281	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4"""			10920202, 11850529	Standard	NM_001142549		Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.1375G>A	5.37:g.55088541G>A	ENSP00000424838:p.Glu459Lys					DDX4_uc010ivz.2_Missense_Mutation_p.E439K|DDX4_uc003jqh.3_Missense_Mutation_p.E425K|DDX4_uc003jqj.2_Missense_Mutation_p.E310K	p.E459K	NM_001136034	NP_001129506	Q9NQI0	DDX4_HUMAN			17	1449	+		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)	459			Helicase ATP-binding.		A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Missense_Mutation	SNP	ENST00000505374.1	37	c.1375G>A	CCDS3969.1	.	.	.	.	.	.	.	.	.	.	g	26.1	4.701018	0.88924	.	.	ENSG00000152670	ENST00000353507;ENST00000514278;ENST00000505374;ENST00000506511;ENST00000354991;ENST00000511853	T;T;T;T;T;T	0.15139	2.45;2.45;2.45;2.45;2.45;2.45	5.39	4.53	0.55603	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.204868	0.50627	N	0.000107	T	0.33527	0.0866	L	0.47190	1.495	0.32798	N	0.500295	P;P;P;D	0.71674	0.605;0.741;0.864;0.998	P;P;P;D	0.67382	0.503;0.665;0.494;0.951	T	0.47086	-0.9144	10	0.62326	D	0.03	-11.8146	14.6727	0.68956	0.0701:0.0:0.9299:0.0	.	439;310;425;459	D6RDK4;E9PCD8;Q9NQI0-2;Q9NQI0	.;.;.;DDX4_HUMAN	K	425;439;459;439;425;310	ENSP00000334167:E425K;ENSP00000425359:E439K;ENSP00000424838:E459K;ENSP00000427167:E439K;ENSP00000347087:E425K;ENSP00000423123:E310K	ENSP00000334167:E425K	E	+	1	0	DDX4	55124298	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.336000	0.72954	1.427000	0.47276	-0.215000	0.12644	GAA		0.378	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2		NM_024415		16	24	0	0	0	0.062417	0	16	24		
DDX4	54514	broad.mit.edu	37	5	55094390	55094390	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr5:55094390C>G	ENST00000505374.1	+	18	1698	c.1606C>G	c.(1606-1608)Cga>Gga	p.R536G	DDX4_ENST00000511853.1_Missense_Mutation_p.R387G|DDX4_ENST00000353507.5_Missense_Mutation_p.R502G|DDX4_ENST00000514278.2_Missense_Mutation_p.R516G|DDX4_ENST00000354991.5_Missense_Mutation_p.R502G	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	536	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				TGAAATTCTGCGAAACATAGG	0.348																																						uc003jqg.3		NaN																	0				ovary(1)|skin(1)	2						c.(1606-1608)CGA>GGA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 isoform							101.0	100.0	101.0					5																	55094390		2203	4300	6503	SO:0001583	missense	54514				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:55094390C>G	AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670		"""DEAD-boxes"""	18700	protein-coding gene	gene with protein product		605281	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4"""			10920202, 11850529	Standard	NM_001142549		Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.1606C>G	5.37:g.55094390C>G	ENSP00000424838:p.Arg536Gly					DDX4_uc010ivz.2_Missense_Mutation_p.R516G|DDX4_uc003jqh.3_Missense_Mutation_p.R502G|DDX4_uc003jqj.2_Missense_Mutation_p.R387G	p.R536G	NM_001136034	NP_001129506	Q9NQI0	DDX4_HUMAN			18	1680	+		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)	536			Helicase C-terminal.		A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Missense_Mutation	SNP	ENST00000505374.1	37	c.1606C>G	CCDS3969.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.723566	0.48728	.	.	ENSG00000152670	ENST00000353507;ENST00000514278;ENST00000505374;ENST00000506511;ENST00000354991;ENST00000511853	D;D;D;T;D;D	0.92647	-3.08;-3.08;-3.08;3.45;-3.08;-3.08	5.58	4.71	0.59529	Helicase, C-terminal (1);	0.254026	0.37809	N	0.001926	D	0.86879	0.6039	N	0.25094	0.71	0.31284	N	0.69025	B;P;B;D	0.60160	0.05;0.582;0.004;0.987	B;B;B;P	0.46758	0.123;0.173;0.01;0.526	D	0.85881	0.1422	10	0.39692	T	0.17	-19.965	10.4916	0.44754	0.1315:0.7981:0.0:0.0704	.	516;387;502;536	D6RDK4;E9PCD8;Q9NQI0-2;Q9NQI0	.;.;.;DDX4_HUMAN	G	502;516;536;516;502;387	ENSP00000334167:R502G;ENSP00000425359:R516G;ENSP00000424838:R536G;ENSP00000427167:R516G;ENSP00000347087:R502G;ENSP00000423123:R387G	ENSP00000334167:R502G	R	+	1	2	DDX4	55130147	0.865000	0.29922	0.995000	0.50966	0.547000	0.35210	3.698000	0.54771	2.631000	0.89168	0.655000	0.94253	CGA		0.348	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2		NM_024415		12	18	0	0	0	0.105934	0	12	18		
ADAMTS6	11174	broad.mit.edu	37	5	64756014	64756014	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr5:64756014G>C	ENST00000536360.1	-	4	1427	c.614C>G	c.(613-615)tCt>tGt	p.S205C				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	205						proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		CCCACAATGAGAGTGATCATA	0.408																																						uc003jtp.2		NaN																	0					0						c.(613-615)TCT>TGT		ADAM metallopeptidase with thrombospondin type 1							149.0	144.0	146.0					5																	64756014		2203	4300	6503	SO:0001583	missense	11174				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:64756014G>C	AF140674	CCDS3983.2	5q13	2008-07-18	2005-08-19		ENSG00000049192	ENSG00000049192		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	222	protein-coding gene	gene with protein product	"""a disintegrin and metalloproteinase with thrombospondin motifs 6"""	605008	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6"""			10464288	Standard	NM_197941		Approved	ADAM-TS6	uc003jtp.3	Q9UKP5	OTTHUMG00000074079	ENST00000536360.1:c.614C>G	5.37:g.64756014G>C	ENSP00000440995:p.Ser205Cys					ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA|ADAMTS6_uc003jtr.1_5'UTR	p.S205C	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN		Lung(70;0.00942)	4	1428	-		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)	205					Q59EX6|Q5IR87|Q5IR88|Q5IR89|Q68DL1	Missense_Mutation	SNP	ENST00000536360.1	37	c.614C>G		.	.	.	.	.	.	.	.	.	.	G	19.08	3.758444	0.69763	.	.	ENSG00000049192	ENST00000381055;ENST00000261306;ENST00000464680;ENST00000536360	T;T;T	0.61158	0.17;0.3;0.13	6.06	6.06	0.98353	.	0.269234	0.43919	D	0.000520	T	0.50718	0.1632	L	0.27053	0.805	0.31882	N	0.61837	P	0.51537	0.946	P	0.48227	0.571	T	0.62364	-0.6870	10	0.66056	D	0.02	.	10.9062	0.47081	0.0711:0.1411:0.7877:0.0	.	205	Q9UKP5	ATS6_HUMAN	C	205	ENSP00000370443:S205C;ENSP00000423551:S205C;ENSP00000440995:S205C	ENSP00000261306:S205C	S	-	2	0	ADAMTS6	64791770	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.962000	0.56766	2.880000	0.98712	0.650000	0.86243	TCT		0.408	ADAMTS6-201	KNOWN	basic	protein_coding	protein_coding			NM_197941		24	29	0	0	0	0.144211	0	24	29		
DMGDH	29958	broad.mit.edu	37	5	78294073	78294073	+	Missense_Mutation	SNP	C	C	G	rs200584827		TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr5:78294073C>G	ENST00000255189.3	-	16	2461	c.2433G>C	c.(2431-2433)aaG>aaC	p.K811N		NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	811					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		AAGCCAGACTCTTCTGGATGC	0.473																																						uc003kfs.2		NaN																	0				ovary(2)|liver(1)|skin(1)	4						c.(2431-2433)AAG>AAC		dimethylglycine dehydrogenase precursor							109.0	95.0	100.0					5																	78294073		2203	4300	6503	SO:0001583	missense	29958				choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity	g.chr5:78294073C>G	AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.2433G>C	5.37:g.78294073C>G	ENSP00000255189:p.Lys811Asn						p.K811N	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)	16	2439	-		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)	811					B2RBN0|B4E1J9	Missense_Mutation	SNP	ENST00000255189.3	37	c.2433G>C	CCDS4044.1	.	.	.	.	.	.	.	.	.	.	C	18.96	3.733970	0.69189	.	.	ENSG00000132837	ENST00000255189	T	0.79247	-1.25	6.17	5.31	0.75309	Glycine cleavage T-protein, C-terminal barrel (1);	0.243327	0.42682	D	0.000676	D	0.87716	0.6247	M	0.93763	3.455	0.80722	D	1	P	0.48294	0.908	P	0.55161	0.77	D	0.88989	0.3413	10	0.52906	T	0.07	.	9.8719	0.41180	0.0:0.7969:0.0:0.2031	.	811	Q9UI17	M2GD_HUMAN	N	811	ENSP00000255189:K811N	ENSP00000255189:K811N	K	-	3	2	DMGDH	78329829	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	1.633000	0.37113	1.628000	0.50416	-0.150000	0.13652	AAG		0.473	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3		NM_013391		7	11	0	0	0	0.02938	0	7	11		
TSSK1B	83942	broad.mit.edu	37	5	112769745	112769745	+	Silent	SNP	G	G	A	rs370148342		TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr5:112769745G>A	ENST00000390666.3	-	1	983	c.792C>T	c.(790-792)gaC>gaT	p.D264D	CTD-2201G3.1_ENST00000416046.2_RNA|MCC_ENST00000408903.3_Intron|CTD-2201G3.1_ENST00000383058.4_RNA|CTD-2201G3.1_ENST00000510381.2_RNA	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	264	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	cytoplasmic vesicle (GO:0031410)|motile cilium (GO:0031514)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		TGAGGATCTCGTCGATGTGGA	0.617																																						uc003kqm.2		NaN																	0				ovary(2)|skin(2)|stomach(1)	5						c.(790-792)GAC>GAT		testis-specific serine kinase 1		G	,	0,4404		0,0,2202	44.0	42.0	42.0		,792	-0.4	0.1	5		42	2,8598	2.2+/-6.3	0,2,4298	no	intron,coding-synonymous	MCC,TSSK1B	NM_001085377.1,NM_032028.3	,	0,2,6500	AA,AG,GG		0.0233,0.0,0.0154	,	,264/368	112769745	2,13002	2202	4300	6502	SO:0001819	synonymous_variant	83942				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:112769745G>A	AF348076	CCDS4112.1	5q22.2	2008-10-23	2007-01-30	2007-01-30	ENSG00000212122	ENSG00000212122			14968	protein-coding gene	gene with protein product		610709	"""serine/threonine kinase 22D (spermiogenesis associated)"", ""testis-specific serine kinase 1"""	STK22D, TSSK1		15044604	Standard	NM_032028		Approved	SPOGA4, FKSG81	uc003kqm.2	Q9BXA7	OTTHUMG00000128835	ENST00000390666.3:c.792C>T	5.37:g.112769745G>A						MCC_uc003kql.3_Intron	p.D264D	NM_032028	NP_114417	Q9BXA7	TSSK1_HUMAN		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)	1	984	-		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)	264			Protein kinase.		B2R8D9	Silent	SNP	ENST00000390666.3	37	c.792C>T	CCDS4112.1																																																																																				0.617	TSSK1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250774.2		NM_032028		4	32	0	0	0	0.014758	0	4	32		
PCDHA2	56146	broad.mit.edu	37	5	140175132	140175132	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr5:140175132G>A	ENST00000526136.1	+	1	583	c.583G>A	c.(583-585)Gtg>Atg	p.V195M	PCDHA2_ENST00000520672.2_Missense_Mutation_p.V195M|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.V195M|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	195	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTGTCTCTCGTGCTGGGGAA	0.463																																						uc003lhd.2		NaN																	0				ovary(4)	4						c.(583-585)GTG>ATG		protocadherin alpha 2 isoform 1 precursor							94.0	102.0	99.0					5																	140175132		2203	4300	6503	SO:0001583	missense	56146				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140175132G>A	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.583G>A	5.37:g.140175132G>A	ENSP00000431748:p.Val195Met					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.V195M|PCDHA2_uc011czy.1_Missense_Mutation_p.V195M	p.V195M	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	689	+			195			Extracellular (Potential).|Cadherin 2.		O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	c.583G>A	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	g	8.341	0.828714	0.16749	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.52057	0.68;0.68;0.68	4.02	2.19	0.27852	Cadherin (4);Cadherin-like (1);	0.456909	0.15639	U	0.251986	T	0.67050	0.2852	M	0.89478	3.035	0.09310	N	1	D;D;D	0.63880	0.993;0.983;0.993	P;D;P	0.64687	0.736;0.928;0.805	T	0.56432	-0.7980	10	0.87932	D	0	.	6.7604	0.23538	0.1661:0.1471:0.6867:0.0	.	195;195;195	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	M	195	ENSP00000430584:V195M;ENSP00000367372:V195M;ENSP00000431748:V195M	ENSP00000367372:V195M	V	+	1	0	PCDHA2	140155316	1.000000	0.71417	0.001000	0.08648	0.004000	0.04260	3.205000	0.51090	0.454000	0.26884	-0.182000	0.12963	GTG		0.463	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3		NM_018905		24	34	0	0	0	0.116897	0	24	34		
PCDHGA9	56107	broad.mit.edu	37	5	140784367	140784367	+	Silent	SNP	C	C	T	rs369141362		TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr5:140784367C>T	ENST00000573521.1	+	1	1848	c.1848C>T	c.(1846-1848)ctC>ctT	p.L616L	PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	616	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCAGGGCTCTTCTCGGTGG	0.597																																						uc003lkh.1		NaN																	0					0						c.(1846-1848)CTC>CTT		protocadherin gamma subfamily A, 9 isoform 1		C	,,,,,,,,,,,,,,	0,4384		0,0,2192	50.0	57.0	55.0		,,,,,,,,1848,,,,,,1848	-1.3	0.4	5		55	1,8599	1.2+/-3.3	0,1,4299	no	intron,intron,intron,intron,intron,intron,intron,intron,coding-synonymous,intron,intron,intron,intron,intron,coding-synonymous	PCDHGB4,PCDHGA8,PCDHGB5,PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA9,PCDHGA7,PCDHGA6,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_003736.2,NM_018912.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018919.2,NM_018920.2,NM_018921.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_018925.2,NM_032088.1,NM_032089.1	,,,,,,,,,,,,,,	0,1,6491	TT,TC,CC		0.0116,0.0,0.0077	,,,,,,,,,,,,,,	,,,,,,,,616/933,,,,,,616/829	140784367	1,12983	2192	4300	6492	SO:0001819	synonymous_variant	56107				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140784367C>T	AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.1848C>T	5.37:g.140784367C>T						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Silent_p.L616L	p.L616L	NM_018921	NP_061744	Q9Y5G4	PCDG9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1848	+			616			Cadherin 6.|Extracellular (Potential).		A2RU65|Q9Y5C9	Silent	SNP	ENST00000573521.1	37	c.1848C>T	CCDS58981.1																																																																																				0.597	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1		NM_018921		21	20	0	0	0	0.076483	0	21	20		
TCOF1	6949	broad.mit.edu	37	5	149755460	149755460	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr5:149755460G>C	ENST00000504761.2	+	12	1881	c.1881G>C	c.(1879-1881)atG>atC	p.M627I	TCOF1_ENST00000451292.1_Missense_Mutation_p.M627I|TCOF1_ENST00000445265.2_Missense_Mutation_p.M550I|TCOF1_ENST00000513346.1_Missense_Mutation_p.M627I|TCOF1_ENST00000377797.3_Missense_Mutation_p.M627I|TCOF1_ENST00000394269.3_Missense_Mutation_p.M627I|TCOF1_ENST00000323668.7_Missense_Mutation_p.M550I|TCOF1_ENST00000439160.2_Missense_Mutation_p.M627I			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	627					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGCAGCCATGACTGCAGCTC	0.627																																						uc003lry.2		NaN																	0				ovary(2)|large_intestine(1)	3						c.(1879-1881)ATG>ATC		Treacher Collins-Franceschetti syndrome 1							45.0	47.0	46.0					5																	149755460		2203	4300	6503	SO:0001583	missense	6949				skeletal system development	nucleolus	protein binding|transporter activity	g.chr5:149755460G>C		CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.1881G>C	5.37:g.149755460G>C	ENSP00000421655:p.Met627Ile					TCOF1_uc003lrw.2_Missense_Mutation_p.M627I|TCOF1_uc011dch.1_Missense_Mutation_p.M627I|TCOF1_uc003lrz.2_Missense_Mutation_p.M627I|TCOF1_uc003lrx.2_Missense_Mutation_p.M550I|TCOF1_uc003lsa.2_Missense_Mutation_p.M550I|TCOF1_uc011dci.1_Missense_Mutation_p.M116I	p.M627I	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		12	1989	+		all_hematologic(541;0.224)	627					A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Missense_Mutation	SNP	ENST00000504761.2	37	c.1881G>C	CCDS54936.1	.	.	.	.	.	.	.	.	.	.	G	9.339	1.062534	0.19987	.	.	ENSG00000070814	ENST00000451292;ENST00000377797;ENST00000445265;ENST00000323668;ENST00000439160;ENST00000394269;ENST00000427724;ENST00000504761;ENST00000513346	T;T;T;T;T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07	3.47	-4.73	0.03259	Treacher Collins syndrome, treacle (1);	2.945220	0.01204	N	0.007664	T	0.44767	0.1309	L	0.34521	1.04	0.09310	N	1	B;B;B;B;B;B;B	0.13594	0.001;0.001;0.001;0.001;0.008;0.001;0.003	B;B;B;B;B;B;B	0.16722	0.006;0.004;0.004;0.004;0.016;0.004;0.004	T	0.08411	-1.0723	10	0.34782	T	0.22	4.7331	0.4663	0.00525	0.3787:0.1331:0.2203:0.268	.	136;627;550;627;627;550;627	B4DRA2;Q13428-7;Q13428-2;Q13428-6;Q13428;Q13428-8;Q13428-5	.;.;.;.;TCOF_HUMAN;.;.	I	627;627;550;550;627;627;627;627;627	ENSP00000400939:M627I;ENSP00000367028:M627I;ENSP00000409944:M550I;ENSP00000325223:M550I;ENSP00000406888:M627I;ENSP00000377811:M627I;ENSP00000390717:M627I;ENSP00000421655:M627I;ENSP00000427484:M627I	ENSP00000325223:M550I	M	+	3	0	TCOF1	149735653	0.000000	0.05858	0.000000	0.03702	0.364000	0.29643	-0.844000	0.04345	-1.270000	0.02433	0.313000	0.20887	ATG		0.627	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1		NM_001008656		7	18	0	0	0	0.058154	0	7	18		
NHLRC1	378884	broad.mit.edu	37	6	18121856	18121856	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr6:18121856C>G	ENST00000340650.3	-	1	995	c.982G>C	c.(982-984)Gat>Cat	p.D328H		NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	NHL repeat containing E3 ubiquitin protein ligase 1	328					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|positive regulation of protein ubiquitination (GO:0031398)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			CCCTGGTGATCAAAGGTCACA	0.483																																						uc003ncl.1		NaN																	0					0						c.(982-984)GAT>CAT		NHL repeat containing 1							100.0	94.0	97.0					6																	18121856		2203	4300	6503	SO:0001583	missense	378884				proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:18121856C>G	AY324849	CCDS4542.1	6p22.3	2014-01-28	2013-12-12		ENSG00000187566	ENSG00000187566			21576	protein-coding gene	gene with protein product	"""epilepsy, progressive myoclonus type 2B"""	608072	"""NHL repeat containing 1"""			12958597	Standard	NM_198586		Approved	bA204B7.2, EPM2B, malin	uc003ncl.1	Q6VVB1	OTTHUMG00000014315	ENST00000340650.3:c.982G>C	6.37:g.18121856C>G	ENSP00000345464:p.Asp328His						p.D328H	NM_198586	NP_940988	Q6VVB1	NHLC1_HUMAN	all cancers(50;0.0451)|Epithelial(50;0.0493)		1	996	-	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	328			NHL 5.		Q3SYB1|Q5VUK7|Q6IMH1	Missense_Mutation	SNP	ENST00000340650.3	37	c.982G>C	CCDS4542.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.974805	0.74360	.	.	ENSG00000187566	ENST00000340650	D	0.94138	-3.36	5.76	5.76	0.90799	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.96078	0.8722	M	0.81802	2.56	0.52501	D	0.999954	D	0.89917	1.0	D	0.74023	0.982	D	0.96298	0.9219	10	0.87932	D	0	-14.76	14.1707	0.65508	0.0:0.9289:0.0:0.0711	.	328	Q6VVB1	NHLC1_HUMAN	H	328	ENSP00000345464:D328H	ENSP00000345464:D328H	D	-	1	0	NHLRC1	18229835	1.000000	0.71417	0.989000	0.46669	0.988000	0.76386	4.450000	0.60041	2.706000	0.92434	0.655000	0.94253	GAT		0.483	NHLRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039958.1				61	76	0	0	0	0.139131	0	61	76		
NHLRC1	378884	broad.mit.edu	37	6	18122765	18122765	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr6:18122765C>A	ENST00000340650.3	-	1	86	c.73G>T	c.(73-75)Gag>Tag	p.E25*		NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	NHL repeat containing E3 ubiquitin protein ligase 1	25					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|positive regulation of protein ubiquitination (GO:0031398)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			ACCTTGCACTCGAGCAGGCTG	0.711																																						uc003ncl.1		NaN																	0					0						c.(73-75)GAG>TAG		NHL repeat containing 1							23.0	23.0	23.0					6																	18122765		2124	4156	6280	SO:0001587	stop_gained	378884				proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:18122765C>A	AY324849	CCDS4542.1	6p22.3	2014-01-28	2013-12-12		ENSG00000187566	ENSG00000187566			21576	protein-coding gene	gene with protein product	"""epilepsy, progressive myoclonus type 2B"""	608072	"""NHL repeat containing 1"""			12958597	Standard	NM_198586		Approved	bA204B7.2, EPM2B, malin	uc003ncl.1	Q6VVB1	OTTHUMG00000014315	ENST00000340650.3:c.73G>T	6.37:g.18122765C>A	ENSP00000345464:p.Glu25*						p.E25*	NM_198586	NP_940988	Q6VVB1	NHLC1_HUMAN	all cancers(50;0.0451)|Epithelial(50;0.0493)		1	87	-	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	25					Q3SYB1|Q5VUK7|Q6IMH1	Nonsense_Mutation	SNP	ENST00000340650.3	37	c.73G>T	CCDS4542.1	.	.	.	.	.	.	.	.	.	.	C	37	6.197543	0.97367	.	.	ENSG00000187566	ENST00000340650	.	.	.	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-23.8752	18.3523	0.90342	0.0:1.0:0.0:0.0	.	.	.	.	X	25	.	ENSP00000345464:E25X	E	-	1	0	NHLRC1	18230744	1.000000	0.71417	0.976000	0.42696	0.977000	0.68977	6.620000	0.74224	2.306000	0.77630	0.655000	0.94253	GAG		0.711	NHLRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039958.1				22	40	1	0	9.39395e-14	0.116897	1.0348e-13	22	40		
NHLRC1	378884	broad.mit.edu	37	6	18122786	18122786	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr6:18122786C>T	ENST00000340650.3	-	1	65	c.52G>A	c.(52-54)Gag>Aag	p.E18K		NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	NHL repeat containing E3 ubiquitin protein ligase 1	18					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|positive regulation of protein ubiquitination (GO:0031398)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E18*(1)		breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			ATCTCCGCCTCGCGCATGAGC	0.711																																						uc003ncl.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)		0						c.(52-54)GAG>AAG		NHL repeat containing 1							20.0	19.0	20.0					6																	18122786		2071	4080	6151	SO:0001583	missense	378884				proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:18122786C>T	AY324849	CCDS4542.1	6p22.3	2014-01-28	2013-12-12		ENSG00000187566	ENSG00000187566			21576	protein-coding gene	gene with protein product	"""epilepsy, progressive myoclonus type 2B"""	608072	"""NHL repeat containing 1"""			12958597	Standard	NM_198586		Approved	bA204B7.2, EPM2B, malin	uc003ncl.1	Q6VVB1	OTTHUMG00000014315	ENST00000340650.3:c.52G>A	6.37:g.18122786C>T	ENSP00000345464:p.Glu18Lys						p.E18K	NM_198586	NP_940988	Q6VVB1	NHLC1_HUMAN	all cancers(50;0.0451)|Epithelial(50;0.0493)		1	66	-	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	18					Q3SYB1|Q5VUK7|Q6IMH1	Missense_Mutation	SNP	ENST00000340650.3	37	c.52G>A	CCDS4542.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.894619	0.91962	.	.	ENSG00000187566	ENST00000340650	D	0.97352	-4.35	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	D	0.95137	0.8424	M	0.67700	2.07	0.42499	D	0.992928	D	0.53151	0.958	B	0.44315	0.446	D	0.94841	0.8005	10	0.46703	T	0.11	-23.4335	14.8033	0.69932	0.0:0.8553:0.1446:0.0	.	18	Q6VVB1	NHLC1_HUMAN	K	18	ENSP00000345464:E18K	ENSP00000345464:E18K	E	-	1	0	NHLRC1	18230765	1.000000	0.71417	0.929000	0.37066	0.868000	0.49771	4.583000	0.60964	2.306000	0.77630	0.655000	0.94253	GAG		0.711	NHLRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039958.1				18	33	0	0	0	0.083992	0	18	33		
CPVL	54504	broad.mit.edu	37	7	29070210	29070210	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr7:29070210C>G	ENST00000409850.1	-	16	1949	c.1303G>C	c.(1303-1305)Gcg>Ccg	p.A435P	CPVL_ENST00000396276.3_Missense_Mutation_p.A435P|CPVL_ENST00000265394.5_Missense_Mutation_p.A435P			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	435			A -> V (in dbSNP:rs7313). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16303743}.			extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						AAGTCACCCGCTTGCCGGATG	0.478																																						uc003szv.2		NaN																	0				ovary(2)	2						c.(1303-1305)GCG>CCG		serine carboxypeptidase vitellogenic-like							145.0	142.0	143.0					7																	29070210		2203	4300	6503	SO:0001583	missense	54504				proteolysis		protein binding|serine-type carboxypeptidase activity	g.chr7:29070210C>G	AF106704	CCDS5419.1	7p15.1	2012-02-10			ENSG00000106066	ENSG00000106066			14399	protein-coding gene	gene with protein product	"""carboxypeptidase WUG"", ""vitellogenic carboxypeptidase-like protein"", ""CP-Mac carboxypeptidase"""	609780				11401439	Standard	XM_005249786		Approved		uc003szw.3	Q9H3G5	OTTHUMG00000023669	ENST00000409850.1:c.1303G>C	7.37:g.29070210C>G	ENSP00000387164:p.Ala435Pro					CPVL_uc003szw.2_Missense_Mutation_p.A435P|CPVL_uc003szx.2_Missense_Mutation_p.A435P	p.A435P	NM_031311	NP_112601	Q9H3G5	CPVL_HUMAN			12	1422	-			435					A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41	Missense_Mutation	SNP	ENST00000409850.1	37	c.1303G>C	CCDS5419.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.96|19.96	3.923671|3.923671	0.73213|0.73213	.|.	.|.	ENSG00000106066|ENSG00000106066	ENST00000265394;ENST00000396276;ENST00000455893;ENST00000409850|ENST00000432534	T;T;T;T|.	0.31510|.	1.49;1.49;1.49;1.49|.	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	0.118062|.	0.56097|.	D|.	0.000025|.	T|T	0.56746|0.56746	0.2006|0.2006	M|M	0.66506|0.66506	2.035|2.035	0.23546|0.23546	N|N	0.997443|0.997443	P|.	0.41524|.	0.753|.	P|.	0.48089|.	0.566|.	T|T	0.52682|0.52682	-0.8543|-0.8543	10|5	0.54805|.	T|.	0.06|.	-15.4544|-15.4544	12.3029|12.3029	0.54884|0.54884	0.0:0.9183:0.0:0.0817|0.0:0.9183:0.0:0.0817	.|.	435|.	Q9H3G5|.	CPVL_HUMAN|.	P|T	435;435;100;435|138	ENSP00000265394:A435P;ENSP00000379572:A435P;ENSP00000403580:A100P;ENSP00000387164:A435P|.	ENSP00000265394:A435P|.	A|S	-|-	1|2	0|0	CPVL|CPVL	29036735|29036735	1.000000|1.000000	0.71417|0.71417	0.944000|0.944000	0.38274|0.38274	0.796000|0.796000	0.44982|0.44982	4.343000|4.343000	0.59348|0.59348	2.575000|2.575000	0.86900|0.86900	0.585000|0.585000	0.79938|0.79938	GCG|AGC		0.478	CPVL-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328305.1		NM_019029		167	185	0	0	0	0.139131	0	167	185		
NOD1	10392	broad.mit.edu	37	7	30485764	30485764	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr7:30485764C>G	ENST00000222823.4	-	9	2971	c.2446G>C	c.(2446-2448)Gag>Cag	p.E816Q		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	816					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						CACCCAACCTCAGAGATTGAT	0.488																																						uc003tav.2		NaN																	0				ovary(1)|skin(1)	2						c.(2446-2448)GAG>CAG		nucleotide-binding oligomerization domain							343.0	273.0	297.0					7																	30485764		2203	4300	6503	SO:0001583	missense	10392				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity	g.chr7:30485764C>G	AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"""Nucleotide-binding domain and leucine rich repeat containing"""	16390	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1"", ""NLR family, CARD domain containing 1"""	605980	"""caspase recruitment domain family, member 4"""	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.2446G>C	7.37:g.30485764C>G	ENSP00000222823:p.Glu816Gln						p.E816Q	NM_006092	NP_006083	Q9Y239	NOD1_HUMAN			9	2969	-			816					B4DTU3|Q549U4|Q8IWF5	Missense_Mutation	SNP	ENST00000222823.4	37	c.2446G>C	CCDS5427.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.027630	0.54790	.	.	ENSG00000106100	ENST00000222823	T	0.55930	0.49	5.38	5.38	0.77491	.	0.426223	0.28958	N	0.013591	T	0.46034	0.1372	N	0.20445	0.575	0.80722	D	1	B	0.25048	0.117	B	0.35655	0.207	T	0.37197	-0.9716	10	0.33940	T	0.23	.	18.1152	0.89552	0.0:1.0:0.0:0.0	.	816	Q9Y239	NOD1_HUMAN	Q	816	ENSP00000222823:E816Q	ENSP00000222823:E816Q	E	-	1	0	NOD1	30452289	1.000000	0.71417	0.051000	0.19133	0.129000	0.20672	6.981000	0.76166	2.509000	0.84616	0.655000	0.94253	GAG		0.488	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2				29	398	0	0	0	0.074837	0	29	398		
AOAH	313	broad.mit.edu	37	7	36657936	36657936	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr7:36657936C>G	ENST00000258749.5	-	10	1117	c.718G>C	c.(718-720)Gat>Cat	p.D240H	AOAH_ENST00000431169.1_Missense_Mutation_p.D240H|AOAH_ENST00000535891.1_Missense_Mutation_p.D208H	NM_001637.3	NP_001628.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	240					inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|lipopolysaccharide metabolic process (GO:0008653)|negative regulation of inflammatory response (GO:0050728)	extracellular region (GO:0005576)	acyloxyacyl hydrolase activity (GO:0050528)|catalytic activity (GO:0003824)|lipoprotein lipase activity (GO:0004465)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						GGAACTCCATCTTTTGGATCG	0.308																																						uc003tfh.3		NaN																	0				skin(1)	1						c.(718-720)GAT>CAT		acyloxyacyl hydrolase precursor							110.0	105.0	107.0					7																	36657936		2203	4300	6503	SO:0001583	missense	313				inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity	g.chr7:36657936C>G	BC025698	CCDS5448.1, CCDS55102.1, CCDS75584.1	7p14-p12	2014-03-14			ENSG00000136250	ENSG00000136250	3.1.1.77		548	protein-coding gene	gene with protein product		102593				1883828	Standard	NM_001637		Approved		uc022abu.1	P28039	OTTHUMG00000023566	ENST00000258749.5:c.718G>C	7.37:g.36657936C>G	ENSP00000258749:p.Asp240His					AOAH_uc010kxf.2_Missense_Mutation_p.D240H|AOAH_uc011kba.1_Missense_Mutation_p.D208H	p.D240H	NM_001637	NP_001628	P28039	AOAH_HUMAN			10	1119	-			240					A4D1Y5|B7Z490|Q53F13	Missense_Mutation	SNP	ENST00000258749.5	37	c.718G>C	CCDS5448.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.593141	0.66219	.	.	ENSG00000136250	ENST00000535891;ENST00000258749;ENST00000431169;ENST00000544647	T;T;T	0.77877	1.9;-1.1;-1.13	5.23	5.23	0.72850	.	0.000000	0.64402	D	0.000001	D	0.87892	0.6292	.	.	.	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.947;0.998	D	0.88696	0.3212	9	0.66056	D	0.02	.	15.8241	0.78683	0.0:1.0:0.0:0.0	.	208;240;240	B7Z490;C9J8T1;P28039	.;.;AOAH_HUMAN	H	208;240;240;240	ENSP00000441101:D208H;ENSP00000258749:D240H;ENSP00000405683:D240H	ENSP00000258749:D240H	D	-	1	0	AOAH	36624461	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	4.074000	0.57577	2.719000	0.93026	0.655000	0.94253	GAT		0.308	AOAH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219829.2		NM_001637		10	71	0	0	0	0.09319	0	10	71		
ZNF92	168374	broad.mit.edu	37	7	64863839	64863840	+	Missense_Mutation	DNP	CC	CC	AT	rs551782702|rs528765754		TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr7:64863839_64863840CC>AT	ENST00000328747.7	+	4	1011_1012	c.812_813CC>AT	c.(811-813)aCC>aAT	p.T271N	ZNF92_ENST00000450302.2_Missense_Mutation_p.T202N|ZNF92_ENST00000357512.2_Missense_Mutation_p.T239N|ZNF92_ENST00000431504.1_Missense_Mutation_p.T195N	NM_152626.2	NP_689839.1	Q03936	ZNF92_HUMAN	zinc finger protein 92	271					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13		Lung NSC(55;0.159)				CGGTCCTCAACCCTTACTAAAC	0.351																																						uc003ttz.2		NaN																	0					0						c.(811-813)ACC>AAT		zinc finger protein 92 isoform 2																																				SO:0001583	missense	168374					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:64863839_64863840CC>AT	M61872	CCDS34646.1, CCDS47596.1, CCDS75608.1, CCDS75609.1	7q11.21	2013-01-08	2006-05-12		ENSG00000146757	ENSG00000146757		"""Zinc fingers, C2H2-type"", ""-"""	13168	protein-coding gene	gene with protein product		603974	"""zinc finger protein 92 (HTF12)"""			8467795	Standard	NM_001287533		Approved	HPF12, TF12	uc003ttz.3	Q03936	OTTHUMG00000156557	Exception_encountered	7.37:g.64863839_64863840delinsAT	ENSP00000332595:p.Thr271Asn					ZNF92_uc003tua.2_Missense_Mutation_p.T202N|ZNF92_uc010kzu.2_Missense_Mutation_p.T239N|ZNF92_uc003tub.2_Missense_Mutation_p.T195N	p.T271N	NM_152626	NP_689839	Q03936	ZNF92_HUMAN			4	955_956	+		Lung NSC(55;0.159)	271			C2H2-type 5.		A6NNF9|Q8N492|Q8NB35	Missense_Mutation	DNP	ENST00000328747.7	37	c.812_813CC>AT	CCDS34646.1																																																																																				0.351	ZNF92-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344589.2		NM_152626		3	53	0	0	0	0.115264	0	3	53		
CYP3A7	1551	broad.mit.edu	37	7	99308460	99308460	+	Nonsense_Mutation	SNP	A	A	C			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr7:99308460A>C	ENST00000336374.2	-	10	923	c.921T>G	c.(919-921)taT>taG	p.Y307*	AC069294.1_ENST00000408560.1_RNA	NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	307					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)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Alfentanil(DB00802)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amlodipine(DB00381)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atorvastatin(DB01076)|Buprenorphine(DB00921)|Buspirone(DB00490)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clotrimazole(DB00257)|Cocaine(DB00907)|Codeine(DB00318)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diltiazem(DB00343)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Eplerenone(DB00700)|Erythromycin(DB00199)|Estradiol(DB00783)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluticasone Propionate(DB00588)|Fluvoxamine(DB00176)|Gestodene(DB06730)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nifedipine(DB01115)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Testosterone(DB00624)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	TCGTGGTTTCATAGCCAGCAA	0.413																																						uc003uru.2		NaN																	0				ovary(1)	1						c.(919-921)TAT>TAG		cytochrome P450, family 3, subfamily A,							92.0	84.0	87.0					7																	99308460		2203	4300	6503	SO:0001587	stop_gained	1551				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr7:99308460A>C	AF315325	CCDS5673.1	7q21-q22.1	2007-12-14	2003-01-14		ENSG00000160870	ENSG00000160870		"""Cytochrome P450s"""	2640	protein-coding gene	gene with protein product		605340	"""cytochrome P450, subfamily IIIA, polypeptide 7"""			2722762	Standard	NM_000765		Approved	CP37, P450-HFLA		P24462	OTTHUMG00000156726	ENST00000336374.2:c.921T>G	7.37:g.99308460A>C	ENSP00000337450:p.Tyr307*					ZNF498_uc003urn.2_Intron|CYP3A5_uc003urs.2_Intron|CYP3A5_uc010lgg.2_Intron	p.Y307*	NM_000765	NP_000756	P24462	CP3A7_HUMAN			10	1026	-	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)		307					A4D288|Q9H241	Nonsense_Mutation	SNP	ENST00000336374.2	37	c.921T>G	CCDS5673.1	.	.	.	.	.	.	.	.	.	.	a	16.04	3.010759	0.54361	.	.	ENSG00000160870	ENST00000292414;ENST00000336374	.	.	.	3.99	1.44	0.22558	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.0504	0.14505	0.7103:0.1845:0.1052:0.0	.	.	.	.	X	307	.	ENSP00000292414:Y307X	Y	-	3	2	CYP3A7	99146396	0.040000	0.19996	0.994000	0.49952	0.403000	0.30841	-0.433000	0.06948	0.059000	0.16252	0.374000	0.22700	TAT		0.413	CYP3A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345484.1				24	40	0	0	0	0.108266	0	24	40		
MUC17	140453	broad.mit.edu	37	7	100682156	100682156	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr7:100682156A>G	ENST00000306151.4	+	3	7523	c.7459A>G	c.(7459-7461)Atg>Gtg	p.M2487V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2487	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGCACACCTATGACCACTTC	0.493																																						uc003uxp.1		NaN																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(7459-7461)ATG>GTG		mucin 17 precursor							285.0	288.0	287.0					7																	100682156		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100682156A>G	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.7459A>G	7.37:g.100682156A>G	ENSP00000302716:p.Met2487Val					MUC17_uc010lho.1_RNA	p.M2487V	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	7512	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2487			Extracellular (Potential).|40.|59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.7459A>G	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	N	0.296	-0.976703	0.02215	.	.	ENSG00000169876	ENST00000306151	T	0.02032	4.49	1.06	-2.02	0.07388	.	.	.	.	.	T	0.00906	0.0030	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46261	-0.9204	9	0.15952	T	0.53	.	4.2578	0.10726	0.345:0.2168:0.4382:0.0	.	2487	Q685J3	MUC17_HUMAN	V	2487	ENSP00000302716:M2487V	ENSP00000302716:M2487V	M	+	1	0	MUC17	100468876	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-3.180000	0.00569	-1.550000	0.01708	-1.389000	0.01157	ATG		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1		NM_001040105		6	428	0	0	0	0.132662	0	6	428		
MUC17	140453	broad.mit.edu	37	7	100682158	100682158	+	Missense_Mutation	SNP	G	G	C	rs147944556		TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr7:100682158G>C	ENST00000306151.4	+	3	7525	c.7461G>C	c.(7459-7461)atG>atC	p.M2487I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2487	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCACACCTATGACCACTTCTA	0.493													g|||	1	0.000199681	0.0	0.0	5008	,	,		28800	0.001		0.0	False		,,,				2504	0.0					uc003uxp.1		NaN																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(7459-7461)ATG>ATC		mucin 17 precursor							284.0	287.0	286.0					7																	100682158		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100682158G>C	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.7461G>C	7.37:g.100682158G>C	ENSP00000302716:p.Met2487Ile					MUC17_uc010lho.1_RNA	p.M2487I	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	7514	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2487			Extracellular (Potential).|40.|59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.7461G>C	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	N	1.247	-0.619700	0.03636	.	.	ENSG00000169876	ENST00000306151	T	0.02032	4.49	1.06	1.06	0.20224	.	.	.	.	.	T	0.01454	0.0047	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48305	-0.9047	9	0.23891	T	0.37	.	5.1654	0.15082	0.0:0.3773:0.6226:0.0	.	2487	Q685J3	MUC17_HUMAN	I	2487	ENSP00000302716:M2487I	ENSP00000302716:M2487I	M	+	3	0	MUC17	100468878	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-1.026000	0.03596	0.910000	0.36722	0.134000	0.15878	ATG		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1		NM_001040105		6	416	0	0	0	0.132662	0	6	416		
CAV2	858	broad.mit.edu	37	7	116139888	116139888	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr7:116139888C>G	ENST00000222693.4	+	1	445	c.53C>G	c.(52-54)tCc>tGc	p.S18C	CAV2_ENST00000393480.2_Missense_Mutation_p.S18C|CAV2_ENST00000462876.1_Intron|CAV2_ENST00000343213.2_Missense_Mutation_p.S18C|AC002066.1_ENST00000446355.2_RNA	NM_001206747.1|NM_001206748.1|NM_001233.4	NP_001193676.1|NP_001193677.1|NP_001224.1	P51636	CAV2_HUMAN	caveolin 2	18					caveola assembly (GO:0070836)|endoplasmic reticulum organization (GO:0007029)|mitochondrion organization (GO:0007005)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of endothelial cell proliferation (GO:0001938)|protein oligomerization (GO:0051259)|regulation of mitosis (GO:0007088)|skeletal muscle fiber development (GO:0048741)|synaptic transmission (GO:0007268)|vesicle docking (GO:0048278)|vesicle fusion (GO:0006906)|vesicle organization (GO:0016050)	acrosomal membrane (GO:0002080)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lipid particle (GO:0005811)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	D1 dopamine receptor binding (GO:0031748)|protein homodimerization activity (GO:0042803)			large_intestine(1)|lung(1)|skin(1)	3	all_epithelial(6;1.53e-06)|Lung NSC(10;0.00592)|all_lung(10;0.00642)		STAD - Stomach adenocarcinoma(10;0.00878)			GACGACGACTCCTACAGCCAC	0.682																																						uc003vid.2		NaN																	0					0						c.(52-54)TCC>TGC		caveolin 2 isoform a and b							25.0	24.0	24.0					7																	116139888		2201	4298	6499	SO:0001583	missense	858				caveola assembly|endoplasmic reticulum organization|mitochondrion organization|negative regulation of endothelial cell proliferation|positive regulation of dopamine receptor signaling pathway|regulation of mitosis|skeletal muscle fiber development|vesicle docking|vesicle fusion	caveola|extrinsic to internal side of plasma membrane|Golgi membrane|integral to plasma membrane|membrane fraction|nucleus|perinuclear region of cytoplasm|transport vesicle	D1 dopamine receptor binding|protein homodimerization activity	g.chr7:116139888C>G	AF035752	CCDS5765.1, CCDS5766.1	7q31	2006-02-09			ENSG00000105971	ENSG00000105971			1528	protein-coding gene	gene with protein product		601048				8552590, 10087206	Standard	NM_001233		Approved	CAV	uc003vid.3	P51636	OTTHUMG00000023414	ENST00000222693.4:c.53C>G	7.37:g.116139888C>G	ENSP00000222693:p.Ser18Cys					CAV2_uc003vhv.2_Intron|CAV2_uc003vhw.2_Intron|CAV2_uc003vhx.2_Intron|CAV2_uc010lkb.1_Intron|CAV2_uc010lkc.2_Intron|CAV2_uc003vib.2_Intron|CAV2_uc003vhz.2_Intron|CAV2_uc003via.2_Intron|CAV1_uc010lkd.1_Intron|CAV1_uc010lke.1_Intron|CAV2_uc003vie.2_Missense_Mutation_p.S18C	p.S18C	NM_001233	NP_001224	P51636	CAV2_HUMAN	STAD - Stomach adenocarcinoma(10;0.00878)		1	445	+	all_epithelial(6;1.53e-06)|Lung NSC(10;0.00592)|all_lung(10;0.00642)		18			Cytoplasmic (Potential).		A4D0U2|Q9UGM7	Missense_Mutation	SNP	ENST00000222693.4	37	c.53C>G	CCDS5766.1	.	.	.	.	.	.	.	.	.	.	c	19.78	3.891583	0.72524	.	.	ENSG00000105971	ENST00000222693;ENST00000343213;ENST00000393480	D;D	0.92752	-3.1;-3.1	3.79	2.86	0.33363	.	0.557051	0.18321	N	0.144804	D	0.89532	0.6742	L	0.57536	1.79	0.21220	N	0.999757	P;P	0.43094	0.799;0.658	P;B	0.45138	0.471;0.409	T	0.82820	-0.0268	10	0.66056	D	0.02	-6.377	4.3984	0.11374	0.3376:0.5417:0.0:0.1207	.	18;18	P51636-3;P51636	.;CAV2_HUMAN	C	18	ENSP00000222693:S18C;ENSP00000377120:S18C	ENSP00000222693:S18C	S	+	2	0	CAV2	115927124	0.758000	0.28405	1.000000	0.80357	0.979000	0.70002	0.968000	0.29357	0.858000	0.35431	0.450000	0.29827	TCC		0.682	CAV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059735.4		NM_001233		2	2	0	0	0	0.115264	0	2	2		
RP1L1	94137	broad.mit.edu	37	8	10466059	10466059	+	Missense_Mutation	SNP	C	C	T	rs200646824		TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr8:10466059C>T	ENST00000382483.3	-	4	5772	c.5549G>A	c.(5548-5550)gGt>gAt	p.G1850D		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1930					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GGCCTCTACACCTTCTGACTC	0.642																																						uc003wtc.2		NaN																	0				ovary(4)|breast(3)|central_nervous_system(1)	8						c.(5548-5550)GGT>GAT		retinitis pigmentosa 1-like 1							161.0	175.0	170.0					8																	10466059		1931	4121	6052	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10466059C>T	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.5549G>A	8.37:g.10466059C>T	ENSP00000371923:p.Gly1850Asp						p.G1850D	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	5778	-			1850					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.5549G>A	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	7.404	0.633294	0.14322	.	.	ENSG00000183638	ENST00000382483	T	0.07800	3.16	3.37	2.48	0.30137	.	.	.	.	.	T	0.03434	0.0099	N	0.08118	0	0.09310	N	1	B	0.32893	0.389	B	0.21546	0.035	T	0.42582	-0.9443	9	0.35671	T	0.21	.	4.9671	0.14096	0.2063:0.6755:0.0:0.1182	.	1850	A6NKC6	.	D	1850	ENSP00000371923:G1850D	ENSP00000371923:G1850D	G	-	2	0	RP1L1	10503469	0.000000	0.05858	0.002000	0.10522	0.008000	0.06430	-2.579000	0.00907	0.390000	0.25115	0.400000	0.26472	GGT		0.642	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1				6	197	0	0	0	0.02938	0	6	197		
ZNF395	55893	broad.mit.edu	37	8	28210752	28210752	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr8:28210752G>A	ENST00000344423.5	-	5	888	c.757C>T	c.(757-759)Cat>Tat	p.H253Y	ZNF395_ENST00000523095.1_Missense_Mutation_p.H253Y|ZNF395_ENST00000523202.1_Missense_Mutation_p.H253Y	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	253					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		TCAAAGCCATGATCAGTTTGG	0.587																																						uc003xgq.2		NaN																	0					0						c.(757-759)CAT>TAT		zinc finger protein 395							53.0	57.0	56.0					8																	28210752		2203	4299	6502	SO:0001583	missense	55893				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr8:28210752G>A	AB044750	CCDS6067.1	8p21	2008-05-02			ENSG00000186918	ENSG00000186918		"""Zinc fingers, C2H2-type"""	18737	protein-coding gene	gene with protein product		609494				14625278	Standard	NM_018660		Approved	PRF-1, HDBP2, PBF, DKFZp434K1210	uc003xgr.3	Q9H8N7	OTTHUMG00000102137	ENST00000344423.5:c.757C>T	8.37:g.28210752G>A	ENSP00000340494:p.His253Tyr					ZNF395_uc003xgt.2_Missense_Mutation_p.H253Y|ZNF395_uc003xgr.2_Missense_Mutation_p.H253Y|ZNF395_uc003xgs.2_Missense_Mutation_p.H253Y	p.H253Y	NM_018660	NP_061130	Q9H8N7	ZN395_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)	5	845	-		Ovarian(32;2.06e-05)	253					B3KUY7|D3DST4|Q6F6H2|Q9BY72|Q9NPB2|Q9NS57|Q9NS58|Q9NS59	Missense_Mutation	SNP	ENST00000344423.5	37	c.757C>T	CCDS6067.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.917129	0.52546	.	.	ENSG00000186918	ENST00000344423;ENST00000523202;ENST00000523095	T;T;T	0.54279	0.58;0.58;0.58	5.4	-2.53	0.06326	.	0.541446	0.21489	N	0.073703	T	0.29817	0.0745	N	0.22421	0.69	0.80722	D	1	P	0.41041	0.736	B	0.34652	0.187	T	0.09058	-1.0692	10	0.62326	D	0.03	-0.0823	8.9284	0.35655	0.0:0.2323:0.5995:0.1681	.	253	Q9H8N7	ZN395_HUMAN	Y	253	ENSP00000340494:H253Y;ENSP00000429640:H253Y;ENSP00000428452:H253Y	ENSP00000340494:H253Y	H	-	1	0	ZNF395	28266671	0.992000	0.36948	0.910000	0.35882	0.996000	0.88848	0.383000	0.20651	-0.094000	0.12374	0.561000	0.74099	CAT		0.587	ZNF395-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219976.1				23	21	0	0	0	0.045705	0	23	21		
ENPP2	5168	broad.mit.edu	37	8	120598469	120598469	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr8:120598469C>G	ENST00000075322.6	-	15	1382	c.1324G>C	c.(1324-1326)Gag>Cag	p.E442Q	ENPP2_ENST00000259486.6_Missense_Mutation_p.E494Q|ENPP2_ENST00000427067.2_Missense_Mutation_p.E438Q|ENPP2_ENST00000522167.1_Missense_Mutation_p.E81Q|ENPP2_ENST00000522826.1_Missense_Mutation_p.E442Q	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	442					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TGGATATCCTCAATTCTTCTG	0.413																																					Melanoma(20;305 879 2501 4818 31020)	uc003yot.1		NaN																	0				ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1)	7						c.(1324-1326)GAG>CAG		autotaxin isoform 2 preproprotein							205.0	179.0	188.0					8																	120598469		2203	4300	6503	SO:0001583	missense	5168				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120598469C>G	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.1324G>C	8.37:g.120598469C>G	ENSP00000075322:p.Glu442Gln					ENPP2_uc011lic.1_5'Flank|ENPP2_uc003yor.1_Missense_Mutation_p.E81Q|ENPP2_uc003yos.1_Missense_Mutation_p.E494Q|ENPP2_uc010mdd.1_Missense_Mutation_p.E442Q	p.E442Q	NM_001040092	NP_001035181	Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		15	1410	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		442					A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	37	c.1324G>C	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	C	34	5.292905	0.95546	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522167;ENST00000522826;ENST00000075322	T;T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88;-0.88	5.64	5.64	0.86602	Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	T	0.80444	0.4624	L	0.28649	0.875	0.80722	D	1	B;D;D;D	0.67145	0.136;0.996;0.968;0.996	B;D;P;D	0.67103	0.345;0.949;0.897;0.949	T	0.82299	-0.0526	10	0.87932	D	0	-17.0125	19.6837	0.95973	0.0:1.0:0.0:0.0	.	442;442;494;81	E9PHP7;Q13822;Q13822-2;E5RIA2	.;ENPP2_HUMAN;.;.	Q	494;438;81;442;442	ENSP00000259486:E494Q;ENSP00000403315:E438Q;ENSP00000429476:E81Q;ENSP00000428291:E442Q;ENSP00000075322:E442Q	ENSP00000075322:E442Q	E	-	1	0	ENPP2	120667650	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.782000	0.85680	2.660000	0.90430	0.555000	0.69702	GAG		0.413	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1				25	60	0	0	0	0.108266	0	25	60		
KIAA0368	23392	broad.mit.edu	37	9	114206748	114206748	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr9:114206748A>C	ENST00000338205.5	-	3	399	c.180T>G	c.(178-180)aaT>aaG	p.N60K	KIAA0368_ENST00000259335.4_Missense_Mutation_p.N238K			Q5VYK3	ECM29_HUMAN	KIAA0368	66					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						TTATACGTTTATTCAGATGGA	0.388																																						uc004bfe.1		NaN																	0					0						c.(712-714)AAT>AAG		KIAA0368 protein							118.0	111.0	113.0					9																	114206748		1810	4071	5881	SO:0001583	missense	23392							g.chr9:114206748A>C	AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"""ECM29 homolog (S. cerevisiae)"""					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.180T>G	9.37:g.114206748A>C	ENSP00000339889:p.Asn60Lys					KIAA0368_uc010muc.1_Missense_Mutation_p.N60K	p.N238K	NM_001080398	NP_001073867					5	714	-								O15074|Q8WU82	Missense_Mutation	SNP	ENST00000338205.5	37	c.714T>G		.	.	.	.	.	.	.	.	.	.	A	21.3	4.135347	0.77662	.	.	ENSG00000136813	ENST00000338205;ENST00000259335	T	0.53640	0.61	5.41	4.16	0.48862	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.55194	0.1905	L	0.42487	1.325	0.80722	D	1	D	0.62365	0.991	D	0.74023	0.982	T	0.47898	-0.9081	10	0.24483	T	0.36	-16.4547	9.3803	0.38309	0.896:0.0:0.104:0.0	.	66	Q5VYK3	ECM29_HUMAN	K	60;238	ENSP00000259335:N238K	ENSP00000259335:N238K	N	-	3	2	KIAA0368	113246569	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	1.289000	0.33307	0.764000	0.33197	0.377000	0.23210	AAT		0.388	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2		NM_014686		9	35	0	0	0	0.080935	0	9	35		
C5	727	broad.mit.edu	37	9	123742496	123742496	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr9:123742496G>T	ENST00000223642.1	-	28	3552	c.3523C>A	c.(3523-3525)Ctg>Atg	p.L1175M		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1175					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	TTTTCAAGCAGAAAGTTGTCA	0.408																																						uc004bkv.2		NaN																	0				ovary(2)	2						c.(3523-3525)CTG>ATG		complement component 5 preproprotein	Eculizumab(DB01257)						130.0	132.0	131.0					9																	123742496		2203	4300	6503	SO:0001583	missense	727				activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity	g.chr9:123742496G>T	M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"""Complement system"", ""Endogenous ligands"""	1331	protein-coding gene	gene with protein product	"""prepro-C5"", ""C5a anaphylatoxin"""	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.3523C>A	9.37:g.123742496G>T	ENSP00000223642:p.Leu1175Met						p.L1175M	NM_001735	NP_001726	P01031	CO5_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	28	3553	-			1175					Q14CJ0|Q27I61	Missense_Mutation	SNP	ENST00000223642.1	37	c.3523C>A	CCDS6826.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.347626	0.41599	.	.	ENSG00000106804	ENST00000223642	T	0.56776	0.44	5.13	4.2	0.49525	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.150896	0.43416	D	0.000567	T	0.69342	0.3100	M	0.87381	2.88	0.09310	N	0.999998	D	0.53462	0.96	P	0.62089	0.898	T	0.62305	-0.6882	10	0.51188	T	0.08	.	6.9063	0.24311	0.2264:0.0:0.7736:0.0	.	1175	P01031	CO5_HUMAN	M	1175	ENSP00000223642:L1175M	ENSP00000223642:L1175M	L	-	1	2	C5	122782317	1.000000	0.71417	0.867000	0.34043	0.528000	0.34623	2.180000	0.42537	1.101000	0.41535	0.655000	0.94253	CTG		0.408	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1		NM_001735		7	50	1	0	1.04858e-14	0.058154	1.16417e-14	7	50		
ZNF79	7633	broad.mit.edu	37	9	130207140	130207140	+	Silent	SNP	A	A	G			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr9:130207140A>G	ENST00000342483.5	+	5	1567	c.1161A>G	c.(1159-1161)aaA>aaG	p.K387K	ZNF79_ENST00000543471.1_Silent_p.K363K|RPL12_ENST00000497322.1_5'Flank	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	387					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						CTGGGGAGAAACCCTACAAGT	0.532																																						uc004bqw.3		NaN																	0				central_nervous_system(1)	1						c.(1159-1161)AAA>AAG		zinc finger protein 79							75.0	72.0	73.0					9																	130207140		2203	4300	6503	SO:0001819	synonymous_variant	7633				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:130207140A>G	X65232	CCDS6871.1, CCDS69664.1, CCDS75904.1	9q34	2013-01-08	2006-05-12		ENSG00000196152	ENSG00000196152		"""Zinc fingers, C2H2-type"""	13153	protein-coding gene	gene with protein product		194552	"""zinc finger protein 79 (pT7)"""			8478004	Standard	NM_007135		Approved	pT7	uc004bqw.4	Q15937	OTTHUMG00000020703	ENST00000342483.5:c.1161A>G	9.37:g.130207140A>G						ZNF79_uc011maf.1_Silent_p.K363K|ZNF79_uc011mag.1_Silent_p.K363K	p.K387K	NM_007135	NP_009066	Q15937	ZNF79_HUMAN			5	1575	+			387					Q5VVW1|Q96NV1	Silent	SNP	ENST00000342483.5	37	c.1161A>G	CCDS6871.1																																																																																				0.532	ZNF79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054188.1		NM_007135		3	72	0	0	0	0.02938	0	3	72		
SWI5	375757	broad.mit.edu	37	9	131038427	131038427	+	Start_Codon_SNP	SNP	G	G	A			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr9:131038427G>A	ENST00000320188.5	+	1	3	c.3G>A	c.(1-3)atG>atA	p.M1I	SWI5_ENST00000495313.1_Intron|GOLGA2_ENST00000609374.1_5'Flank|SWI5_ENST00000608796.1_5'Flank|SWI5_ENST00000418976.1_5'Flank|GOLGA2_ENST00000490628.1_5'Flank|SWI5_ENST00000419867.2_5'Flank|GOLGA2_ENST00000421699.2_5'Flank	NM_001040011.1	NP_001035100.1	Q1ZZU3	SWI5_HUMAN	SWI5 recombination repair homolog (yeast)	1					cellular response to ionizing radiation (GO:0071479)|double-strand break repair via homologous recombination (GO:0000724)	nucleus (GO:0005634)|Swi5-Sfr1 complex (GO:0032798)											GCGTGGCTATGCAGCGGCGTG	0.627																																						uc004bup.2		NaN																	0					0						c.(1-3)ATG>ATA		hypothetical protein LOC375757							51.0	61.0	58.0					9																	131038427		2060	4148	6208	SO:0001582	initiator_codon_variant	375757				double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding	g.chr9:131038427G>A	BC029911	CCDS43883.1	9q34.13	2011-07-29	2011-07-29	2011-07-29	ENSG00000175854	ENSG00000175854			31412	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 119"""	C9orf119		21252223, 20976249	Standard	NM_001040011		Approved	bA395P17.9	uc004bup.3	Q1ZZU3	OTTHUMG00000020729	ENST00000320188.5:c.3G>A	9.37:g.131038427G>A	ENSP00000316609:p.Met1Ile					GOLGA2_uc011maw.1_5'Flank|GOLGA2_uc010mxw.2_5'Flank|GOLGA2_uc004bul.1_5'Flank|C9orf119_uc010mxx.1_Missense_Mutation_p.M1I	p.M1I	NM_001040011	NP_001035100	Q1ZZU3	SWI5_HUMAN			1	3	+			1					Q5SYX7|Q5SYX8|Q8N2W6	Missense_Mutation	SNP	ENST00000320188.5	37	c.3G>A	CCDS43883.1	.	.	.	.	.	.	.	.	.	.	G	10.29	1.310414	0.23821	.	.	ENSG00000175854	ENST00000320188	.	.	.	4.75	-2.3	0.06785	.	.	.	.	.	T	0.41971	0.1182	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18461	-1.0336	7	0.87932	D	0	.	6.042	0.19740	0.4719:0.1354:0.3927:0.0	.	1	Q1ZZU3	SWI5_HUMAN	I	1	.	ENSP00000316609:M1I	M	+	3	0	SWI5	130078248	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-4.187000	0.00278	-0.296000	0.08947	0.650000	0.86243	ATG		0.627	SWI5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_001040011	Missense_Mutation	45	57	0	0	0	0.139131	0	45	57		
WDR34	89891	broad.mit.edu	37	9	131397988	131397988	+	Silent	SNP	C	C	A			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr9:131397988C>A	ENST00000372715.2	-	5	822	c.762G>T	c.(760-762)ctG>ctT	p.L254L	WDR34_ENST00000483181.1_5'UTR	NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN	WD repeat domain 34	254						axoneme (GO:0005930)|centriole (GO:0005814)|ciliary basal body (GO:0036064)				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						TGCGCCACAGCAGCGGGTCCT	0.692																																						uc004bvq.1		NaN																	0				central_nervous_system(2)|skin(1)	3						c.(760-762)CTG>CTT		WD repeat domain 34							73.0	61.0	65.0					9																	131397988		2203	4300	6503	SO:0001819	synonymous_variant	89891					cytoplasm		g.chr9:131397988C>A	BC011874	CCDS6906.2	9q34.11	2013-11-15	2013-02-19	2013-02-19	ENSG00000119333	ENSG00000119333		"""WD repeat domain containing"""	28296	protein-coding gene	gene with protein product		613363				19521662, 21953912, 24183451	Standard	NM_052844		Approved	DIC5, MGC20486, bA216B9.3, FAP133	uc004bvq.1	Q96EX3	OTTHUMG00000020750	ENST00000372715.2:c.762G>T	9.37:g.131397988C>A						WDR34_uc004bvs.1_Silent_p.L245L|WDR34_uc004bvr.1_Silent_p.L254L	p.L254L	NM_052844	NP_443076	Q96EX3	WDR34_HUMAN			5	886	-			254			WD 1.		Q5VXV4|Q9BV46	Silent	SNP	ENST00000372715.2	37	c.762G>T	CCDS6906.2																																																																																				0.692	WDR34-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054463.1		NM_052844		3	38	1	0	0.00909568	0.009096	0.00949993	3	38		
WNK3	65267	broad.mit.edu	37	X	54321158	54321158	+	Missense_Mutation	SNP	C	C	G	rs149832313	byFrequency	TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chrX:54321158C>G	ENST00000375159.2	-	7	1520	c.1521G>C	c.(1519-1521)agG>agC	p.R507S	WNK3_ENST00000354646.2_Missense_Mutation_p.R507S|WNK3_ENST00000375169.3_Missense_Mutation_p.R507S			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	507					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						ACTGAGAATCCCTGCGTTCTT	0.478																																						uc004dtd.1		NaN																	0				lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11						c.(1519-1521)AGG>AGC		WNK lysine deficient protein kinase 3 isoform 2							90.0	82.0	84.0					X																	54321158		2203	4300	6503	SO:0001583	missense	65267				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	g.chrX:54321158C>G	AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.1521G>C	X.37:g.54321158C>G	ENSP00000364301:p.Arg507Ser					WNK3_uc004dtc.1_Missense_Mutation_p.R507S	p.R507S	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN			8	1960	-			507					B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	ENST00000375159.2	37	c.1521G>C	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	C	8.384	0.838222	0.16891	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.72167	-0.6;-0.63;-0.63	5.04	-1.03	0.10102	.	0.269373	0.25520	N	0.030106	T	0.54046	0.1834	L	0.36672	1.1	0.19945	N	0.999946	P;B	0.35542	0.508;0.374	B;B	0.40782	0.34;0.082	T	0.48456	-0.9034	10	0.11182	T	0.66	-1.8668	5.9345	0.19158	0.1262:0.397:0.0:0.4768	.	507;507	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	S	507	ENSP00000364312:R507S;ENSP00000346667:R507S;ENSP00000364301:R507S	ENSP00000346667:R507S	R	-	3	2	WNK3	54337883	0.000000	0.05858	0.305000	0.25099	0.395000	0.30598	-1.814000	0.01723	-0.178000	0.10672	-0.215000	0.12644	AGG		0.478	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2		NM_020922		27	2	0	0	0	0.134883	0	27	2		
MAGEC1	9947	broad.mit.edu	37	X	140994960	140994960	+	Silent	SNP	G	G	A			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chrX:140994960G>A	ENST00000285879.4	+	4	2056	c.1770G>A	c.(1768-1770)ctG>ctA	p.L590L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	590										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGGACTCCCTGTCTCCTCACT	0.567										HNSCC(15;0.026)																												uc004fbt.2		NaN																	0				ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(1768-1770)CTG>CTA		melanoma antigen family C, 1							229.0	245.0	240.0					X																	140994960		2203	4300	6503	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140994960G>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1770G>A	X.37:g.140994960G>A		HNSCC(15;0.026)				MAGEC1_uc010nsl.1_Intron	p.L590L	NM_005462	NP_005453	O60732	MAGC1_HUMAN			4	2056	+	Acute lymphoblastic leukemia(192;6.56e-05)		590					A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.1770G>A	CCDS35417.1																																																																																				0.567	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1		NM_005462		6	249	0	0	0	0.02938	0	6	249		
SLC5A11	115584	broad.mit.edu	37	16	24921737	24921739	+	In_Frame_Del	DEL	CAG	CAG	-	rs140499762		TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr16:24921737_24921739delCAG	ENST00000347898.3	+	15	2383_2385	c.1761_1763delCAG	c.(1759-1764)gccagc>gcc	p.S592del	SLC5A11_ENST00000545376.1_In_Frame_Del_p.S522del|SLC5A11_ENST00000569071.1_In_Frame_Del_p.S436del|SLC5A11_ENST00000565769.1_In_Frame_Del_p.S528del|SLC5A11_ENST00000449109.2_In_Frame_Del_p.S436del|SLC5A11_ENST00000567758.1_In_Frame_Del_p.S557del|SLC5A11_ENST00000539472.1_In_Frame_Del_p.S528del|SLC5A11_ENST00000568579.1_In_Frame_Del_p.S522del|SLC5A11_ENST00000424767.2_In_Frame_Del_p.S557del	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		TGCCAGAGGCCAGCAGCAGCAGC	0.542																																						uc002dmu.2		NaN																	0				ovary(2)	2						c.(1759-1764)GCCAGC>GCC		solute carrier family 5 (sodium/glucose				0,59,4205		0,0,0,0,59,2073						2.3	0.0		dbSNP_134	91	12,151,8089		0,0,12,0,151,3963	no	codingComplex	SLC5A11	NM_052944.2		0,0,12,0,210,6036	A1A1,A1A2,A1R,A2A2,A2R,RR		1.9753,1.3837,1.7737				12,210,12294				SO:0001651	inframe_deletion	115584				apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity	g.chr16:24921737_24921739delCAG	AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"""Solute carriers"""	23091	protein-coding gene	gene with protein product		610238	"""solute carrier family 5 (sodium/glucose cotransporter), member 11"""			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.1761_1763delCAG	16.37:g.24921746_24921748delCAG	ENSP00000289932:p.Ser592del					SLC5A11_uc002dms.2_In_Frame_Del_p.S528del|SLC5A11_uc010vcd.1_In_Frame_Del_p.S557del|SLC5A11_uc002dmt.2_In_Frame_Del_p.S436del|SLC5A11_uc010vce.1_In_Frame_Del_p.S522del|SLC5A11_uc010bxt.2_In_Frame_Del_p.S528del|SLC5A11_uc002dmv.2_In_Frame_Del_p.S215del	p.S592del	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN		GBM - Glioblastoma multiforme(48;0.0365)	15	1993_1995	+			592			Cytoplasmic (Potential).			In_Frame_Del	DEL	ENST00000347898.3	37	c.1761_1763delCAG	CCDS10625.1																																																																																				0.542	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214091.3		NM_052944		18	826	NaN	NaN	NaN	NaN	NaN	18	826	---	---
TAOK2	9344	broad.mit.edu	37	16	29998498	29998500	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr16:29998498_29998500delCTG	ENST00000308893.4	+	16	3948_3950	c.2905_2907delCTG	c.(2905-2907)ctgdel	p.L974del	TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000416441.2_In_Frame_Del_p.L801del|TAOK2_ENST00000543033.1_In_Frame_Del_p.L861del	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	974	Leu-rich.				actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CCTGCCCCTCCTGCTGCTGCTGC	0.709																																						uc002dva.1		NaN																	0				ovary(1)	1						c.(2905-2907)CTGdel		TAO kinase 2 isoform 2			,	25,3845		3,19,1913					,	-6.7	0.0			32	41,7581		7,27,3777	no	coding,intron	TAOK2	NM_016151.2,NM_004783.2	,	10,46,5690	A1A1,A1R,RR		0.5379,0.646,0.5743	,	,		66,11426				SO:0001651	inframe_deletion	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29998498_29998500delCTG	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.2905_2907delCTG	16.37:g.29998507_29998509delCTG	ENSP00000310094:p.Leu974del					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Intron|TAOK2_uc002dvc.1_Intron|TAOK2_uc010bzm.1_In_Frame_Del_p.L981del|TAOK2_uc002dvd.1_In_Frame_Del_p.L801del	p.L974del	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN			16	3688_3690	+			974			Leu-rich.|Helical; (Potential).		A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	In_Frame_Del	DEL	ENST00000308893.4	37	c.2905_2907delCTG	CCDS10663.1																																																																																				0.709	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2		NM_016151		7	435	NaN	NaN	NaN	NaN	NaN	7	435	---	---
ZNF513	130557	broad.mit.edu	37	2	27600891	27600892	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr2:27600891_27600892delTG	ENST00000323703.6	-	4	1344_1345	c.1146_1147delCA	c.(1144-1149)cacagtfs	p.HS382fs	ZNF513_ENST00000491924.1_5'UTR|ZNF513_ENST00000407879.1_Frame_Shift_Del_p.HS320fs	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	382					regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)	p.S383C(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCTCACCACTGTGTGTCTTCA	0.609																																						uc002rkk.2		NaN																	1	Substitution - Missense(1)	p.S383C(1)	ovary(1)	ovary(1)	1						c.(1144-1149)CACAGTfs		zinc finger protein 513																																				SO:0001589	frameshift_variant	130557				regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr2:27600891_27600892delTG	AL833946	CCDS1751.1, CCDS56114.1	2p23.3	2014-01-28			ENSG00000163795	ENSG00000163795		"""Zinc fingers, C2H2-type"""	26498	protein-coding gene	gene with protein product		613598				12477932	Standard	NM_001201459		Approved	FLJ32203, RP58	uc002rkk.3	Q8N8E2	OTTHUMG00000097783	ENST00000323703.6:c.1146_1147delCA	2.37:g.27600895_27600896delTG	ENSP00000318373:p.His382fs					ZNF513_uc002rkj.2_Frame_Shift_Del_p.H320fs	p.H382fs	NM_144631	NP_653232	Q8N8E2	ZN513_HUMAN			4	1346_1347	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		382_383					A8K3S5|B7WP71|Q3ZCU1|Q68CJ1|Q86UZ3|Q8NDL8|Q96ML3	Frame_Shift_Del	DEL	ENST00000323703.6	37	c.1146_1147delCA	CCDS1751.1																																																																																				0.609	ZNF513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215026.2		NM_144631		57	160	NaN	NaN	NaN	NaN	NaN	57	160	---	---
