#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ELAC2	60528	broad.mit.edu	37	17	12920190	12920190	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr17:12920190C>T	ENST00000338034.4	-	3	595	c.356G>A	c.(355-357)gGg>gAg	p.G119E	ELAC2_ENST00000426905.3_Missense_Mutation_p.G119E|ELAC2_ENST00000609345.1_5'UTR|ELAC2_ENST00000395962.2_Missense_Mutation_p.G100E|ELAC2_ENST00000578071.1_Missense_Mutation_p.G119E	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	119					mitochondrial tRNA 3'-trailer cleavage, endonucleolytic (GO:0072684)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						ACTTAAGCCCCCAACATTAGA	0.438																																						ENST00000338034.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						c.(355-357)gGg>gAg		elaC ribonuclease Z 2							111.0	100.0	104.0					17																	12920190		2203	4300	6503	SO:0001583	missense	60528				tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding	g.chr17:12920190C>T	AF304370	CCDS11164.1, CCDS54093.1	17p11.2	2013-05-24	2013-05-24		ENSG00000006744	ENSG00000006744	3.1.26.11		14198	protein-coding gene	gene with protein product	"""tRNase Z (long form)"""	605367	"""elaC (E. coli) homolog 2"", ""elaC homolog 2 (E. coli)"""			10986046, 16636667, 21559454	Standard	NM_018127		Approved	FLJ10530, HPC2	uc010vvr.2	Q9BQ52	OTTHUMG00000058764	ENST00000338034.4:c.356G>A	17.37:g.12920190C>T	ENSP00000337445:p.Gly119Glu					ELAC2_ENST00000578071.1_5'UTR|ELAC2_ENST00000395962.2_Missense_Mutation_p.G100E|ELAC2_ENST00000426905.3_Missense_Mutation_p.G119E	p.G119E	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN			3	595	-			119					B4DPL9|Q6IA94|Q9HAS8|Q9HAS9|Q9NVT1	Missense_Mutation	SNP	ENST00000338034.4	37	c.356G>A	CCDS11164.1	.	.	.	.	.	.	.	.	.	.	C	12.86	2.063282	0.36373	.	.	ENSG00000006744	ENST00000426905;ENST00000338034;ENST00000395962	T;T;T	0.61859	0.07;0.07;0.07	4.65	4.65	0.58169	.	0.057220	0.64402	D	0.000001	D	0.82540	0.5059	H	0.95328	3.655	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.996;0.996;0.993;0.998	D	0.87905	0.2693	10	0.87932	D	0	-28.2065	15.0938	0.72217	0.0:1.0:0.0:0.0	.	119;102;100;119	B4DPL9;E9PGJ0;G5E9D5;Q9BQ52	.;.;.;RNZ2_HUMAN	E	119;119;100	ENSP00000405223:G119E;ENSP00000337445:G119E;ENSP00000379291:G100E	ENSP00000337445:G119E	G	-	2	0	ELAC2	12860915	1.000000	0.71417	0.998000	0.56505	0.581000	0.36288	6.375000	0.73137	2.413000	0.81919	0.655000	0.94253	GGG		0.438	ELAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129934.5			16	47	0	0	0	1	0	16	47				
SI	6476	broad.mit.edu	37	3	164757760	164757760	+	Splice_Site	SNP	C	C	A			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr3:164757760C>A	ENST00000264382.3	-	19	2222		c.e19-1			NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)						carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	CTCATAAAACCTAAGAACAAT	0.353										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.e19-1		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						99.0	103.0	101.0					3																	164757760		2203	4300	6503	SO:0001630	splice_region_variant	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164757760C>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.2160-1G>T	3.37:g.164757760C>A		HNSCC(35;0.089)						NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			19	2222	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)						A2RUC3|Q1JQ80|Q1RMC2	Splice_Site	SNP	ENST00000264382.3	37		CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.677206	0.68042	.	.	ENSG00000090402	ENST00000264382	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7242	0.91708	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SI	166240454	1.000000	0.71417	0.998000	0.56505	0.751000	0.42716	6.142000	0.71750	2.749000	0.94314	0.644000	0.83932	.		0.353	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041	Intron	22	52	1	0	1.96292e-10	1	1.99797e-10	22	52				
HMCN1	83872	broad.mit.edu	37	1	186114591	186114591	+	Missense_Mutation	SNP	G	G	A	rs147296385	byFrequency	TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr1:186114591G>A	ENST00000271588.4	+	92	14552	c.14323G>A	c.(14323-14325)Gga>Aga	p.G4775R	HMCN1_ENST00000367492.2_Missense_Mutation_p.G4775R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4775	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GACGTGTAACGGAGGGCAGAT	0.552													G|||	4	0.000798722	0.0	0.0014	5008	,	,		14915	0.0		0.0	False		,,,				2504	0.0031					ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(14323-14325)Gga>Aga		hemicentin 1		G	ARG/GLY	0,4406		0,0,2203	96.0	89.0	91.0		14323	5.4	1.0	1	dbSNP_134	91	3,8597	3.0+/-9.4	0,3,4297	yes	missense	HMCN1	NM_031935.2	125	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging	4775/5636	186114591	3,13003	2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186114591G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.14323G>A	1.37:g.186114591G>A	ENSP00000271588:p.Gly4775Arg					HMCN1_ENST00000367492.2_Missense_Mutation_p.G4775R	p.G4775R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			92	14552	+			4775			TSP type-1 5.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.14323G>A	CCDS30956.1	4	0.0018315018315018315	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	G	24.4	4.527629	0.85706	0.0	3.49E-4	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.53206	0.63;0.63	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.65709	0.2717	M	0.67569	2.06	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.68413	-0.5415	10	0.87932	D	0	.	13.5431	0.61686	0.0745:0.0:0.9255:0.0	.	4775	Q96RW7	HMCN1_HUMAN	R	4775	ENSP00000271588:G4775R;ENSP00000356462:G4775R	ENSP00000271588:G4775R	G	+	1	0	HMCN1	184381214	1.000000	0.71417	0.954000	0.39281	0.781000	0.44180	7.526000	0.81920	2.551000	0.86045	0.655000	0.94253	GGA		0.552	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		23	35	0	0	0	1	0	23	35				
STATH	6779	broad.mit.edu	37	4	70865507	70865507	+	Missense_Mutation	SNP	G	G	A	rs181619166	byFrequency	TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr4:70865507G>A	ENST00000246895.4	+	4	194	c.83G>A	c.(82-84)cGt>cAt	p.R28H	STATH_ENST00000381060.2_Intron	NM_003154.2	NP_003145.1	P02808	STAT_HUMAN	statherin	28					biomineral tissue development (GO:0031214)|negative regulation of bone mineralization (GO:0030502)|ossification (GO:0001503)|saliva secretion (GO:0046541)	extracellular region (GO:0005576)	extracellular matrix constituent, lubricant activity (GO:0030197)|hydroxyapatite binding (GO:0046848)|structural constituent of tooth enamel (GO:0030345)			lung(2)|skin(1)	3						AAATTTTTGCGTAGAATTGGA	0.313													G|||	2	0.000399361	0.0008	0.0	5008	,	,		18247	0.001		0.0	False		,,,				2504	0.0					ENST00000246895.4																			0				lung(2)|skin(1)	3						c.(82-84)cGt>cAt		statherin		G	,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	129.0	131.0	130.0		,83	-3.8	0.0	4		130	1,8597	1.2+/-3.3	0,1,4298	yes	intron,missense	STATH	NM_001009181.1,NM_003154.2	,29	0,2,6500	AA,AG,GG		0.0116,0.0227,0.0154	,benign	,28/63	70865507	2,13002	2203	4299	6502	SO:0001583	missense	6779				biomineral tissue development|negative regulation of bone mineralization|ossification|saliva secretion	extracellular region	extracellular matrix constituent, lubricant activity|hydroxyapatite binding|protein binding|structural constituent of tooth enamel	g.chr4:70865507G>A		CCDS3533.1, CCDS33998.1	4q13.3	2012-10-02			ENSG00000126549	ENSG00000126549			11369	protein-coding gene	gene with protein product		184470				3502720	Standard	NM_003154		Approved	STR	uc003heu.1	P02808	OTTHUMG00000129394	ENST00000246895.4:c.83G>A	4.37:g.70865507G>A	ENSP00000246895:p.Arg28His					STATH_ENST00000381060.2_Intron	p.R28H	NM_003154.2	NP_003145.1	P02808	STAT_HUMAN			4	194	+			28		Missing (in statherin variants SV2 and SV3).			A6NKE9|B2R4F8	Missense_Mutation	SNP	ENST00000246895.4	37	c.83G>A	CCDS3533.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	0.668	-0.803100	0.02841	2.27E-4	1.16E-4	ENSG00000126549	ENST00000246895	.	.	.	1.89	-3.77	0.04346	.	.	.	.	.	T	0.25419	0.0618	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.17806	-1.0357	7	0.87932	D	0	.	0.8195	0.01109	0.4182:0.1622:0.258:0.1616	.	28	P02808	STAT_HUMAN	H	28	.	ENSP00000246895:R28H	R	+	2	0	STATH	70900096	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.773000	0.04689	-2.334000	0.00630	-1.002000	0.02502	CGT		0.313	STATH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251550.1	NM_003154		7	27	0	0	0	1	0	7	27				
GPA33	10223	broad.mit.edu	37	1	167042732	167042732	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr1:167042732C>T	ENST00000367868.3	-	2	431	c.88G>A	c.(88-90)Gtt>Att	p.V30I	GPA33_ENST00000527955.1_5'UTR	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)	30	Ig-like V-type.					extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						GCCCGAAGAACGTCCTGCGGA	0.547																																						ENST00000367868.3																			0				endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(88-90)Gtt>Att		glycoprotein A33 (transmembrane)							111.0	88.0	95.0					1																	167042732		2203	4300	6503	SO:0001583	missense	10223					integral to plasma membrane	receptor activity	g.chr1:167042732C>T	U79725	CCDS1258.1	1q24.1	2013-01-29			ENSG00000143167	ENSG00000143167		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	4445	protein-coding gene	gene with protein product		602171				9012807, 9245713	Standard	NM_005814		Approved	A33	uc001gea.1	Q99795	OTTHUMG00000034435	ENST00000367868.3:c.88G>A	1.37:g.167042732C>T	ENSP00000356842:p.Val30Ile					GPA33_ENST00000527955.1_5'UTR	p.V30I	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN			2	431	-			30			Ig-like V-type.		Q5VZP6	Missense_Mutation	SNP	ENST00000367868.3	37	c.88G>A	CCDS1258.1	.	.	.	.	.	.	.	.	.	.	C	9.945	1.218542	0.22373	.	.	ENSG00000143167	ENST00000367868	T	0.66638	-0.22	5.26	2.14	0.27477	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.069830	0.07222	N	0.861053	T	0.27967	0.0689	N	0.25647	0.755	0.09310	N	1	B	0.24576	0.106	B	0.17979	0.02	T	0.17653	-1.0362	10	0.30854	T	0.27	.	5.2453	0.15493	0.0:0.6496:0.1668:0.1836	.	30	Q99795	GPA33_HUMAN	I	30	ENSP00000356842:V30I	ENSP00000356842:V30I	V	-	1	0	GPA33	165309356	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.485000	0.06520	0.575000	0.29434	0.655000	0.94253	GTT		0.547	GPA33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083245.1	NM_005814		8	19	0	0	0	1	0	8	19				
CACNA1S	779	broad.mit.edu	37	1	201035428	201035428	+	Missense_Mutation	SNP	C	C	T	rs146823170		TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr1:201035428C>T	ENST00000362061.3	-	21	2900	c.2674G>A	c.(2674-2676)Gtg>Atg	p.V892M	CACNA1S_ENST00000367338.3_Missense_Mutation_p.V892M	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	892					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	ATCTTCACCACGGAGATGGCA	0.662																																						ENST00000362061.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.(2674-2676)Gtg>Atg		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)	C	MET/VAL	0,4406		0,0,2203	61.0	62.0	61.0		2674	3.9	1.0	1	dbSNP_134	61	1,8599	1.2+/-3.3	0,1,4299	no	missense	CACNA1S	NM_000069.2	21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	892/1874	201035428	1,13005	2203	4300	6503	SO:0001583	missense	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201035428C>T	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.2674G>A	1.37:g.201035428C>T	ENSP00000355192:p.Val892Met					CACNA1S_ENST00000367338.3_Missense_Mutation_p.V892M	p.V892M	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN			21	2900	-			892					A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.2674G>A	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	C	19.76	3.887233	0.72410	0.0	1.16E-4	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.98493	-4.96;-4.96	3.92	3.92	0.45320	Ion transport (1);	0.063680	0.64402	D	0.000008	D	0.98979	0.9652	M	0.88906	2.99	0.58432	D	0.999992	D	0.76494	0.999	D	0.70935	0.971	D	0.99624	1.0984	10	0.87932	D	0	.	16.2686	0.82603	0.0:1.0:0.0:0.0	.	892	Q13698	CAC1S_HUMAN	M	892	ENSP00000355192:V892M;ENSP00000356307:V892M	ENSP00000355192:V892M	V	-	1	0	CACNA1S	199302051	1.000000	0.71417	1.000000	0.80357	0.719000	0.41307	7.740000	0.84986	1.889000	0.54706	0.462000	0.41574	GTG		0.662	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		13	48	0	0	0	1	0	13	48				
RNF32	140545	broad.mit.edu	37	7	156437435	156437435	+	Silent	SNP	G	G	A			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr7:156437435G>A	ENST00000405335.1	+	4	667	c.258G>A	c.(256-258)ccG>ccA	p.P86P	RNF32_ENST00000480011.1_3'UTR|RNF32_ENST00000392740.1_Silent_p.P86P|RNF32_ENST00000311822.8_Silent_p.P86P|RNF32_ENST00000432459.2_Silent_p.P86P|RNF32_ENST00000343665.4_Silent_p.P86P|RNF32_ENST00000392743.2_Silent_p.P86P|RNF32_ENST00000392741.2_Silent_p.P86P|RNF32_ENST00000317955.5_Silent_p.P86P			Q9H0A6	RNF32_HUMAN	ring finger protein 32	86						aggresome (GO:0016235)|endosome (GO:0005768)	zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		ATCCCAAACCGCCGCCGTTGA	0.343																																						ENST00000392741.2																			0				cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15						c.(256-258)ccG>ccA		ring finger protein 32							65.0	70.0	68.0					7																	156437435		2203	4300	6503	SO:0001819	synonymous_variant	140545					aggresome|endosome	protein binding|zinc ion binding	g.chr7:156437435G>A		CCDS5944.1	7q36	2013-08-05			ENSG00000105982	ENSG00000105982		"""RING-type (C3HC4) zinc fingers"""	17118	protein-coding gene	gene with protein product		610241				11890671	Standard	NM_001184996		Approved	FKSG33, HSD15, LMBR2	uc003wmr.3	Q9H0A6	OTTHUMG00000151440	ENST00000405335.1:c.258G>A	7.37:g.156437435G>A						RNF32_ENST00000480011.1_3'UTR|RNF32_ENST00000432459.2_Silent_p.P86P|RNF32_ENST00000405335.1_Silent_p.P86P|RNF32_ENST00000392740.1_Silent_p.P86P|RNF32_ENST00000392743.2_Silent_p.P86P|RNF32_ENST00000343665.4_Silent_p.P86P|RNF32_ENST00000317955.5_Silent_p.P86P|RNF32_ENST00000311822.8_Silent_p.P86P	p.P86P			Q9H0A6	RNF32_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)	2	346	+	Ovarian(565;0.218)	all_hematologic(28;0.0592)	86					Q6FIB3|Q6X7T4|Q8N6V8|Q8TDG0|Q96BM5|Q9Y6U1	Silent	SNP	ENST00000405335.1	37	c.258G>A	CCDS5944.1																																																																																				0.343	RNF32-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322660.2	NM_030936		25	119	0	0	0	1	0	25	119				
SEMA4G	57715	broad.mit.edu	37	10	102738982	102738982	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr10:102738982T>C	ENST00000370250.4	+	8	1310	c.937T>C	c.(937-939)Tca>Cca	p.S313P	MRPL43_ENST00000318325.2_3'UTR|SEMA4G_ENST00000519756.1_3'UTR|MRPL43_ENST00000370241.3_Intron|MRPL43_ENST00000370242.4_3'UTR|RP11-108L7.4_ENST00000447344.1_RNA|SEMA4G_ENST00000517724.1_Missense_Mutation_p.S313P|SEMA4G_ENST00000210633.3_Missense_Mutation_p.S313P	NM_017893.3	NP_060363.2	Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	313	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		TGCTGAAACCTCAAGCCGTAC	0.557																																						ENST00000210633.3																			0				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(937-939)Tca>Cca		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G							111.0	91.0	98.0					10																	102738982		2203	4300	6503	SO:0001583	missense	57715				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr10:102738982T>C	AB046839	CCDS7501.1, CCDS55724.1	10q24.31	2013-01-11			ENSG00000095539	ENSG00000095539		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10735	protein-coding gene	gene with protein product							Standard	NM_017893		Approved	FLJ20590, KIAA1619	uc001krw.2	Q9NTN9	OTTHUMG00000018922	ENST00000370250.4:c.937T>C	10.37:g.102738982T>C	ENSP00000359270:p.Ser313Pro					SEMA4G_ENST00000370250.4_Missense_Mutation_p.S313P|MRPL43_ENST00000370241.3_Intron|MRPL43_ENST00000370242.4_3'UTR|MRPL43_ENST00000318325.2_3'UTR|SEMA4G_ENST00000517724.1_Missense_Mutation_p.S313P|SEMA4G_ENST00000519756.1_3'UTR	p.S313P			Q9NTN9	SEM4G_HUMAN		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)	8	1015	+		Colorectal(252;0.234)	313			Sema.		A1A5C6|A6NJY8|Q58EY1|Q9HCF3	Missense_Mutation	SNP	ENST00000370250.4	37	c.937T>C		.	.	.	.	.	.	.	.	.	.	t	10.58	1.391360	0.25118	.	.	ENSG00000095539	ENST00000519649;ENST00000457585;ENST00000370250;ENST00000517724;ENST00000210633	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	5.82	3.44	0.39384	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.936985	0.09250	N	0.828033	T	0.13243	0.0321	N	0.02275	-0.615	0.09310	N	1	B;B;B	0.14805	0.004;0.011;0.001	B;B;B	0.15052	0.01;0.012;0.002	T	0.32188	-0.9916	10	0.28530	T	0.3	.	7.8518	0.29459	0.0:0.0715:0.1388:0.7897	.	313;313;313	Q9NTN9;A1A5C6;Q9NTN9-2	SEM4G_HUMAN;.;.	P	313	ENSP00000428896:S313P;ENSP00000359270:S313P;ENSP00000430175:S313P;ENSP00000210633:S313P	ENSP00000210633:S313P	S	+	1	0	SEMA4G	102728972	0.875000	0.30112	0.008000	0.14137	0.815000	0.46073	2.606000	0.46291	0.449000	0.26747	0.392000	0.25879	TCA		0.557	SEMA4G-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049920.2			3	48	0	0	0	1	0	3	48				
TERF2IP	54386	broad.mit.edu	37	16	75690356	75690356	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr16:75690356C>G	ENST00000300086.4	+	3	1144	c.1047C>G	c.(1045-1047)ttC>ttG	p.F349L		NM_018975.3	NP_061848.2	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting protein	349					negative regulation of DNA recombination at telomere (GO:0048239)|negative regulation of telomere maintenance (GO:0032205)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of transcription, DNA-templated (GO:0006355)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere lengthening (GO:0010833)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear chromosome (GO:0000228)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						CTTCCGCCTTCTTAGCGTCTG	0.443																																						ENST00000300086.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						c.(1045-1047)ttC>ttG		telomeric repeat binding factor 2, interacting protein							173.0	179.0	177.0					16																	75690356		2198	4300	6498	SO:0001583	missense	54386				negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding	g.chr16:75690356C>G	AK000669	CCDS32491.1	16q23.1	2012-10-03			ENSG00000166848	ENSG00000166848			19246	protein-coding gene	gene with protein product		605061				10850490	Standard	NM_018975		Approved	RAP1	uc002fet.2	Q9NYB0	OTTHUMG00000177136	ENST00000300086.4:c.1047C>G	16.37:g.75690356C>G	ENSP00000300086:p.Phe349Leu						p.F349L	NM_018975.3	NP_061848.2	Q9NYB0	TE2IP_HUMAN			3	1144	+			349					B4DQN4|Q4W4Y2|Q8WYZ3|Q9NWR2	Missense_Mutation	SNP	ENST00000300086.4	37	c.1047C>G	CCDS32491.1	.	.	.	.	.	.	.	.	.	.	C	18.88	3.716893	0.68844	.	.	ENSG00000166848	ENST00000300086	T	0.41400	1.0	5.75	1.12	0.20585	.	0.163403	0.53938	D	0.000043	T	0.47303	0.1438	L	0.32530	0.975	0.39543	D	0.96885	D	0.63880	0.993	D	0.72625	0.978	T	0.46789	-0.9166	10	0.72032	D	0.01	-9.8651	8.7418	0.34562	0.0:0.4177:0.0:0.5823	.	349	Q9NYB0	TE2IP_HUMAN	L	349	ENSP00000300086:F349L	ENSP00000300086:F349L	F	+	3	2	TERF2IP	74247857	0.995000	0.38212	1.000000	0.80357	0.918000	0.54935	0.144000	0.16135	0.461000	0.27071	-0.469000	0.05056	TTC		0.443	TERF2IP-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000435519.1	NM_018975		5	245	0	0	0	1	0	5	245				
C9	735	broad.mit.edu	37	5	39308393	39308393	+	Silent	SNP	T	T	C			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr5:39308393T>C	ENST00000263408.4	-	8	1274	c.1179A>G	c.(1177-1179)gaA>gaG	p.E393E		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	393	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			CAACAGAGATTTCAGAGAAAG	0.358																																						ENST00000263408.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32						c.(1177-1179)gaA>gaG		complement component 9							129.0	126.0	127.0					5																	39308393		2203	4300	6503	SO:0001819	synonymous_variant	735				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex		g.chr5:39308393T>C		CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"""Complement system"""	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.1179A>G	5.37:g.39308393T>C							p.E393E	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	Epithelial(62;0.158)		8	1274	-	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	393			MACPF.			Silent	SNP	ENST00000263408.4	37	c.1179A>G	CCDS3929.1																																																																																				0.358	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211576.3			28	45	0	0	0	1	0	28	45				
PDE4D	5144	broad.mit.edu	37	5	59284544	59284544	+	Splice_Site	SNP	C	C	T			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr5:59284544C>T	ENST00000502484.2	-	3	266	c.43G>A	c.(43-45)Gcc>Acc	p.A15T	PDE4D_ENST00000546160.1_Splice_Site_p.A15T	NM_001165899.1	NP_001159371.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	0					adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	TCCTCAGAGGCCTGAGGTAAT	0.373																																						ENST00000502484.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15						c.e3-1		phosphodiesterase 4D, cAMP-specific	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)						78.0	76.0	77.0					5																	59284544		1568	3582	5150	SO:0001630	splice_region_variant	5144				signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr5:59284544C>T		CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"""Phosphodiesterases"""	8783	protein-coding gene	gene with protein product	"""phosphodiesterase E3 dunce homolog (Drosophila)"""	600129	"""phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"""	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000502484.2:c.43-1G>A	5.37:g.59284544C>T						PDE4D_ENST00000546160.1_Splice_Site_p.A15_splice	p.A15_splice	NM_001165899.1	NP_001159371.1	Q08499	PDE4D_HUMAN		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	3	266	-		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)	0					O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Splice_Site	SNP	ENST00000502484.2	37	c.42_splice	CCDS54859.1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.356449	0.61293	.	.	ENSG00000113448	ENST00000502484;ENST00000546160;ENST00000505507;ENST00000514552	T;T	0.67171	-0.25;-0.25	5.34	5.34	0.76211	.	.	.	.	.	T	0.61337	0.2339	.	.	.	0.36898	D	0.890276	P;B	0.42692	0.787;0.03	B;B	0.38428	0.273;0.015	T	0.67444	-0.5669	8	0.39692	T	0.17	.	19.2202	0.93793	0.0:1.0:0.0:0.0	.	15;15	D6RIG1;Q08499-11	.;.	T	15	ENSP00000423094:A15T;ENSP00000442734:A15T	ENSP00000423094:A15T	A	-	1	0	PDE4D	59320301	1.000000	0.71417	1.000000	0.80357	0.534000	0.34807	3.464000	0.53057	2.772000	0.95346	0.585000	0.79938	GCC		0.373	PDE4D-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368094.3		Missense_Mutation	16	34	0	0	0	1	0	16	34				
NLGN2	57555	broad.mit.edu	37	17	7320334	7320334	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr17:7320334G>A	ENST00000302926.2	+	7	1797	c.1724G>A	c.(1723-1725)aGc>aAc	p.S575N	NLGN2_ENST00000575301.1_Missense_Mutation_p.S575N	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	575					cell-cell junction maintenance (GO:0045217)|gephyrin clustering (GO:0097116)|locomotory exploration behavior (GO:0035641)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|sensory perception of pain (GO:0019233)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				AAATTCAACAGCAAGGAGAAG	0.597																																						ENST00000302926.2																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22						c.(1723-1725)aGc>aAc		neuroligin 2							102.0	89.0	93.0					17																	7320334		2203	4300	6503	SO:0001583	missense	57555				cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity	g.chr17:7320334G>A	AB037787	CCDS11103.1	17p13.2	2008-07-18			ENSG00000169992	ENSG00000169992			14290	protein-coding gene	gene with protein product		606479				10767552, 10819331	Standard	NM_020795		Approved	KIAA1366	uc002ggt.1	Q8NFZ4	OTTHUMG00000108138	ENST00000302926.2:c.1724G>A	17.37:g.7320334G>A	ENSP00000305288:p.Ser575Asn					NLGN2_ENST00000575301.1_Missense_Mutation_p.S575N	p.S575N	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN			7	1797	+		Prostate(122;0.157)	575					Q9P2I1	Missense_Mutation	SNP	ENST00000302926.2	37	c.1724G>A	CCDS11103.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.871992	0.51695	.	.	ENSG00000169992	ENST00000302926	T	0.59224	0.28	4.42	4.42	0.53409	Carboxylesterase, type B (1);	0.663946	0.16415	N	0.215420	T	0.43478	0.1249	N	0.25094	0.71	0.42913	D	0.994267	B	0.13594	0.008	B	0.18561	0.022	T	0.40739	-0.9547	10	0.54805	T	0.06	.	10.7107	0.45982	0.0:0.1937:0.8063:0.0	.	575	Q8NFZ4	NLGN2_HUMAN	N	575	ENSP00000305288:S575N	ENSP00000305288:S575N	S	+	2	0	NLGN2	7261058	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.091000	0.50199	2.437000	0.82529	0.561000	0.74099	AGC		0.597	NLGN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226941.2	NM_020795		3	27	0	0	0	1	0	3	27				
CCDC144A	9720	broad.mit.edu	37	17	16667394	16667394	+	Missense_Mutation	SNP	G	G	A	rs370800974		TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr17:16667394G>A	ENST00000360524.8	+	15	4079	c.4003G>A	c.(4003-4005)Gtt>Att	p.V1335I	CCDC144A_ENST00000456009.1_Missense_Mutation_p.V1101I|CCDC144A_ENST00000399273.1_Missense_Mutation_p.V1335I|CCDC144A_ENST00000443444.2_Missense_Mutation_p.V1335I|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.V1335I	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	1335																	GTCACCTTGCGTTGGAAATCT	0.433																																						ENST00000443444.2																			0											c.(4003-4005)Gtt>Att		coiled-coil domain containing 144A		G	ILE/VAL	1,3561		0,1,1780	33.0	36.0	35.0		4003	1.1	0.0	17		35	0,8056		0,0,4028	no	missense	CCDC144A	NM_014695.1	29	0,1,5808	AA,AG,GG		0.0,0.0281,0.0086	benign	1335/1428	16667394	1,11617	1781	4028	5809	SO:0001583	missense	9720							g.chr17:16667394G>A	BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.4003G>A	17.37:g.16667394G>A	ENSP00000353717:p.Val1335Ile					CCDC144A_ENST00000360524.8_Missense_Mutation_p.V1335I|CCDC144A_ENST00000456009.1_Missense_Mutation_p.V1101I|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.V1335I|CCDC144A_ENST00000399273.1_Missense_Mutation_p.V1335I	p.V1335I			A2RUR9	C144A_HUMAN			15	4143	+			1335					O60311|Q6ZU57	Missense_Mutation	SNP	ENST00000360524.8	37	c.4003G>A	CCDS45621.1	.	.	.	.	.	.	.	.	.	.	.	7.009	0.556489	0.13436	2.81E-4	0.0	ENSG00000170160	ENST00000399273;ENST00000443444;ENST00000360524;ENST00000456009	T;T;T;T	0.38401	1.14;1.14;1.14;1.14	2.1	1.09	0.20402	.	.	.	.	.	T	0.19127	0.0459	L	0.33245	0.995	0.09310	N	1	P;B	0.39352	0.669;0.338	B;B	0.31946	0.138;0.043	T	0.09773	-1.0659	9	0.22706	T	0.39	.	3.9884	0.09525	0.2236:0.0:0.7764:0.0	.	1101;1335	A2RUR9-3;A2RUR9	.;C144A_HUMAN	I	1335;1335;1335;1101	ENSP00000382215:V1335I;ENSP00000439262:V1335I;ENSP00000353717:V1335I;ENSP00000394201:V1101I	ENSP00000353717:V1335I	V	+	1	0	CCDC144A	16608119	0.000000	0.05858	0.018000	0.16275	0.011000	0.07611	0.030000	0.13688	1.160000	0.42584	0.184000	0.17185	GTT		0.433	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444093.1			10	40	0	0	0	1	0	10	40				
OR5V1	81696	broad.mit.edu	37	6	29323500	29323500	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr6:29323500A>G	ENST00000377154.1	-	4	772	c.473T>C	c.(472-474)gTg>gCg	p.V158A	OR5V1_ENST00000543825.1_Missense_Mutation_p.V158A			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	158						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CACTGTATGCACCACTGAGTT	0.443																																					Ovarian(32;43 883 21137 32120 42650)	ENST00000377154.1																			0				breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(472-474)gTg>gCg		olfactory receptor, family 5, subfamily V, member 1							88.0	85.0	86.0					6																	29323500		2203	4299	6502	SO:0001583	missense	81696				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29323500A>G		CCDS4657.1	6p22.1	2013-09-23				ENSG00000243729		"""GPCR / Class A : Olfactory receptors"""	13972	protein-coding gene	gene with protein product							Standard	NM_030876		Approved	hs6M1-21	uc011dlo.2	Q9UGF6		ENST00000377154.1:c.473T>C	6.37:g.29323500A>G	ENSP00000366359:p.Val158Ala					OR5V1_ENST00000543825.1_Missense_Mutation_p.V158A	p.V158A			Q9UGF6	OR5V1_HUMAN			4	772	-			158					A2BDZ0|B0S860|Q5SQI9|Q6NTB5|Q8IVL3	Missense_Mutation	SNP	ENST00000377154.1	37	c.473T>C	CCDS4657.1	.	.	.	.	.	.	.	.	.	.	A	16.38	3.105836	0.56291	.	.	ENSG00000243729	ENST00000377154;ENST00000377151;ENST00000543825	T;T	0.37915	1.17;1.17	4.28	1.81	0.25067	GPCR, rhodopsin-like superfamily (1);	0.719989	0.10748	N	0.638621	T	0.20170	0.0485	L	0.49455	1.56	0.20403	N	0.999906	P	0.48640	0.913	P	0.47744	0.556	T	0.07986	-1.0744	10	0.35671	T	0.21	-10.8388	8.4879	0.33082	0.8335:0.0:0.1665:0.0	.	158	Q9UGF6	OR5V1_HUMAN	A	158	ENSP00000366359:V158A;ENSP00000443309:V158A	ENSP00000366356:V158A	V	-	2	0	OR5V1	29431479	0.000000	0.05858	0.791000	0.31998	0.782000	0.44232	1.397000	0.34543	0.278000	0.22164	0.443000	0.29094	GTG		0.443	OR5V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076398.3			21	42	0	0	0	1	0	21	42				
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	lincRNA	SNP	C	C	G	rs199933143		TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr1:142713773C>G	ENST00000610091.1	-	0	1885																											TCTTTTTCCACATTGTCATTT	0.284																																						ENST00000369381.2																			0																																																			0							g.chr1:142713773C>G																													1.37:g.142713773C>G														0	832	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			3	44	0	0	0	1	0	3	44				
TNS4	84951	broad.mit.edu	37	17	38645093	38645093	+	Missense_Mutation	SNP	C	C	T	rs140343246	byFrequency	TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr17:38645093C>T	ENST00000254051.6	-	3	726	c.568G>A	c.(568-570)Gtc>Atc	p.V190I		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	190	Ser-rich.				apoptotic process (GO:0006915)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			TCTCGGGGGACGTCTCTGGAA	0.667													C|||	3	0.000599042	0.0023	0.0	5008	,	,		16224	0.0		0.0	False		,,,				2504	0.0					ENST00000254051.6																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30						c.(568-570)Gtc>Atc		tensin 4		C	ILE/VAL	5,4395		0,5,2195	46.0	56.0	52.0		568	-9.2	0.0	17	dbSNP_134	52	0,8600		0,0,4300	yes	missense	TNS4	NM_032865.5	29	0,5,6495	TT,TC,CC		0.0,0.1136,0.0385	benign	190/716	38645093	5,12995	2200	4300	6500	SO:0001583	missense	84951				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr17:38645093C>T	AF417488	CCDS11368.1	17q21.2	2013-02-14			ENSG00000131746	ENSG00000131746		"""SH2 domain containing"""	24352	protein-coding gene	gene with protein product	"""C terminal tensin like"""	608385				12154022, 12711115	Standard	NM_032865		Approved	CTEN	uc010cxb.3	Q8IZW8	OTTHUMG00000133330	ENST00000254051.6:c.568G>A	17.37:g.38645093C>T	ENSP00000254051:p.Val190Ile						p.V190I	NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	STAD - Stomach adenocarcinoma(5;5.91e-05)		3	726	-		Breast(137;0.000496)	190			Ser-rich.		A6NMJ7|Q71RB7|Q8WV64|Q96JV4	Missense_Mutation	SNP	ENST00000254051.6	37	c.568G>A	CCDS11368.1	.	.	.	.	.	.	.	.	.	.	C	3.748	-0.052094	0.07362	0.001136	0.0	ENSG00000131746	ENST00000377816;ENST00000254051	T	0.16324	2.35	5.24	-9.18	0.00688	.	1.116300	0.07090	N	0.838654	T	0.05823	0.0152	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.43637	-0.9379	10	0.20519	T	0.43	-2.2738	10.7202	0.46036	0.0:0.1177:0.2031:0.6792	.	190	Q8IZW8	TENS4_HUMAN	I	190	ENSP00000254051:V190I	ENSP00000254051:V190I	V	-	1	0	TNS4	35898619	0.000000	0.05858	0.004000	0.12327	0.977000	0.68977	-0.944000	0.03913	-1.665000	0.01477	0.563000	0.77884	GTC		0.667	TNS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257154.3	NM_032865		26	60	0	0	0	1	0	26	60				
PEAR1	375033	broad.mit.edu	37	1	156876623	156876623	+	Missense_Mutation	SNP	G	G	A	rs267598083		TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr1:156876623G>A	ENST00000338302.3	+	7	820	c.595G>A	c.(595-597)Gat>Aat	p.D199N	PEAR1_ENST00000292357.7_Missense_Mutation_p.D199N			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	199					recognition of apoptotic cell (GO:0043654)	integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGCACCCTGCGATCCCCAGAC	0.622																																						ENST00000338302.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43						c.(595-597)Gat>Aat		platelet endothelial aggregation receptor 1							51.0	50.0	50.0					1																	156876623		2203	4300	6503	SO:0001583	missense	375033					integral to membrane		g.chr1:156876623G>A	AK098809	CCDS30892.1	1q23.1	2008-02-05	2007-10-25	2007-10-25	ENSG00000187800	ENSG00000187800			33631	protein-coding gene	gene with protein product		610278	"""multiple EGF-like-domains 12"""	MEGF12		15851471	Standard	NM_001080471		Approved	JEDI, FLJ00193	uc001fqj.1	Q5VY43	OTTHUMG00000041293	ENST00000338302.3:c.595G>A	1.37:g.156876623G>A	ENSP00000344465:p.Asp199Asn					PEAR1_ENST00000292357.7_Missense_Mutation_p.D199N	p.D199N			Q5VY43	PEAR1_HUMAN			7	820	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		199					Q8TEK2	Missense_Mutation	SNP	ENST00000338302.3	37	c.595G>A	CCDS30892.1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.787332	0.49997	.	.	ENSG00000187800	ENST00000338302;ENST00000292357	T;T	0.54866	0.55;0.55	4.81	1.8	0.24995	.	0.251936	0.27932	N	0.017271	T	0.16128	0.0388	L	0.33093	0.98	0.33648	D	0.608083	B	0.23990	0.095	B	0.14023	0.01	T	0.05869	-1.0859	9	.	.	.	.	6.3964	0.21614	0.1741:0.1509:0.675:0.0	.	199	Q5VY43	PEAR1_HUMAN	N	199	ENSP00000344465:D199N;ENSP00000292357:D199N	.	D	+	1	0	PEAR1	155143247	0.012000	0.17670	0.990000	0.47175	0.953000	0.61014	0.052000	0.14163	0.209000	0.20645	0.561000	0.74099	GAT		0.622	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098937.2	NM_001080471		15	32	0	0	0	1	0	15	32				
CACNA1C	775	broad.mit.edu	37	12	2613704	2613704	+	Splice_Site	SNP	G	G	A			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr12:2613704G>A	ENST00000399617.1	+	8	1216	c.1216G>A	c.(1216-1218)Gga>Aga	p.G406R	CACNA1C_ENST00000335762.5_Intron|CACNA1C_ENST00000399595.1_Intron|CACNA1C_ENST00000327702.7_Intron|CACNA1C_ENST00000399597.1_Intron|CACNA1C_ENST00000399649.1_Intron|CACNA1C_ENST00000402845.3_Intron|CACNA1C_ENST00000347598.4_Intron|CACNA1C_ENST00000399634.1_Splice_Site_p.G406R|CACNA1C_ENST00000406454.3_Splice_Site_p.G406R|CACNA1C_ENST00000399621.1_Intron|CACNA1C_ENST00000399591.1_Intron|CACNA1C_ENST00000399601.1_Intron|CACNA1C_ENST00000399629.1_Intron|CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000399606.1_Intron|CACNA1C_ENST00000399603.1_Splice_Site_p.G406R|CACNA1C_ENST00000344100.3_Intron|CACNA1C_ENST00000480911.1_Intron|CACNA1C_ENST00000399641.1_Splice_Site_p.G406R|CACNA1C_ENST00000399655.1_Intron|CACNA1C_ENST00000399638.1_Intron|CACNA1C_ENST00000399644.1_Intron|CACNA1C_ENST00000399637.1_Intron	NM_001167624.1	NP_001161096.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	406			G -> R (in TS; causes a nearly complete loss of voltage-dependent channel inactivation). {ECO:0000269|PubMed:15454078}.		adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TGTGTTGAGCGGGTAAGCTGA	0.537																																						ENST00000406454.3																			0				NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132						c.e8+1		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						258.0	209.0	224.0					12																	2613704		1568	3582	5150	SO:0001630	splice_region_variant	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2613704G>A	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000399617.1:c.1217+1G>A	12.37:g.2613704G>A						CACNA1C_ENST00000399629.1_Intron|CACNA1C_ENST00000399638.1_Intron|CACNA1C_ENST00000347598.4_Intron|CACNA1C_ENST00000399644.1_Intron|CACNA1C_ENST00000344100.3_Intron|CACNA1C_ENST00000399591.1_Intron|CACNA1C_ENST00000399617.1_Splice_Site_p.G406_splice|CACNA1C_ENST00000399621.1_Intron|CACNA1C_ENST00000399597.1_Intron|CACNA1C_ENST00000335762.5_Intron|CACNA1C_ENST00000399606.1_Intron|CACNA1C_ENST00000399595.1_Intron|CACNA1C_ENST00000399641.1_Splice_Site_p.G406_splice|CACNA1C_ENST00000399637.1_Intron|CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000480911.1_Intron|CACNA1C_ENST00000399603.1_Splice_Site_p.G406_splice|CACNA1C_ENST00000399655.1_Intron|CACNA1C_ENST00000399634.1_Splice_Site_p.G406_splice|CACNA1C_ENST00000402845.3_Intron|CACNA1C_ENST00000399601.1_Intron|CACNA1C_ENST00000327702.7_Intron|CACNA1C_ENST00000399649.1_Intron	p.G406_splice			Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	8	1216	+			406		G -> R (in TS; causes a nearly complete loss of voltage-dependent channel inactivation).			B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Splice_Site	SNP	ENST00000399617.1	37	c.1217_splice	CCDS53733.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.961233	0.92791	.	.	ENSG00000151067	ENST00000399641;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000322367	D;D;D;D;D	0.97430	-4.38;-4.38;-4.38;-4.38;-4.38	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	D	0.98607	0.9534	M	0.87180	2.865	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.925;1.0;0.992;0.999;1.0;0.999	D	0.99589	1.0975	10	0.72032	D	0.01	.	18.3616	0.90376	0.0:0.0:1.0:0.0	.	35;406;377;406;406;406	Q5V9X8;Q13936-23;Q13936-28;E9PDJ1;E9PDJ0;F5GY28	.;.;.;.;.;.	R	406;406;406;406;406;247	ENSP00000382549:G406R;ENSP00000382512:G406R;ENSP00000382542:G406R;ENSP00000382526:G406R;ENSP00000385896:G406R	ENSP00000323129:G247R	G	+	1	0	CACNA1C	2483965	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.601000	0.98297	2.563000	0.86464	0.561000	0.74099	GGA		0.537	CACNA1C-013	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317031.1	NM_000719	Missense_Mutation	18	45	0	0	0	1	0	18	45				
TRRAP	8295	broad.mit.edu	37	7	98530949	98530949	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr7:98530949C>T	ENST00000359863.4	+	27	4147	c.3938C>T	c.(3937-3939)aCg>aTg	p.T1313M	TRRAP_ENST00000446306.3_Missense_Mutation_p.T1312M|TRRAP_ENST00000355540.3_Missense_Mutation_p.T1313M	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1313					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GAGGGGAACACGTTCTGTACC	0.587																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(3937-3939)aCg>aTg		transformation/transcription domain-associated protein							169.0	121.0	137.0					7																	98530949		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98530949C>T	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.3938C>T	7.37:g.98530949C>T	ENSP00000352925:p.Thr1313Met					TRRAP_ENST00000355540.3_Missense_Mutation_p.T1313M|TRRAP_ENST00000446306.3_Missense_Mutation_p.T1312M	p.T1313M	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		27	4147	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		1313					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.3938C>T	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.121024|5.121024	0.94385|0.94385	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000456197|ENST00000359863;ENST00000355540;ENST00000446306	.|T;T	.|0.03889	.|3.77;3.77	6.07|6.07	6.07|6.07	0.98685|0.98685	.|Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.29223|0.29223	0.0727|0.0727	M|M	0.86343|0.86343	2.81|2.81	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.79108	.|0.992;0.983;0.981	T|T	0.01232|0.01232	-1.1411|-1.1411	5|10	.|0.87932	.|D	.|0	.|.	20.6439|20.6439	0.99570|0.99570	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1313;1027;1313	.|Q9Y4A5-2;Q59FH1;Q9Y4A5	.|.;.;TRRAP_HUMAN	C|M	1028|1313;1313;1311	.|ENSP00000352925:T1313M;ENSP00000347733:T1313M	.|ENSP00000347733:T1313M	R|T	+|+	1|2	0|0	TRRAP|TRRAP	98368885|98368885	1.000000|1.000000	0.71417|0.71417	0.976000|0.976000	0.42696|0.42696	0.953000|0.953000	0.61014|0.61014	7.459000|7.459000	0.80802|0.80802	2.884000|2.884000	0.98904|0.98904	0.655000|0.655000	0.94253|0.94253	CGT|ACG		0.587	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		7	38	0	0	0	1	0	7	38				
MTPAP	55149	broad.mit.edu	37	10	30602641	30602641	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr10:30602641A>C	ENST00000263063.4	-	9	1689	c.1646T>G	c.(1645-1647)tTt>tGt	p.F549C	MTPAP_ENST00000488290.1_5'UTR|MTPAP_ENST00000358107.4_Missense_Mutation_p.F679C	NM_018109.3	NP_060579.3	Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	549					cell death (GO:0008219)|histone mRNA catabolic process (GO:0071044)|mRNA polyadenylation (GO:0006378)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)|protein homodimerization activity (GO:0042803)|UTP binding (GO:0002134)			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						TTCAATTGCAAACTTATTGCT	0.393																																						ENST00000358107.4																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(2035-2037)tTt>tGt		mitochondrial poly(A) polymerase							172.0	163.0	166.0					10																	30602641		2203	4300	6503	SO:0001583	missense	55149				cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding	g.chr10:30602641A>C	AL122121	CCDS7165.1	10p12.1	2014-01-30	2009-01-12	2009-01-12	ENSG00000107951	ENSG00000107951			25532	protein-coding gene	gene with protein product	"""TUTase1"""	613669	"""PAP associated domain containing 1"""	PAPD1		12239557, 15769737, 15547249	Standard	NM_018109		Approved	FLJ10486, mtPAP, SPAX4	uc001iva.4	Q9NVV4	OTTHUMG00000017895	ENST00000263063.4:c.1646T>G	10.37:g.30602641A>C	ENSP00000263063:p.Phe549Cys					MTPAP_ENST00000263063.3_Missense_Mutation_p.F549C|MTPAP_ENST00000488290.1_5'UTR	p.F679C			Q9NVV4	PAPD1_HUMAN			10	2035	-			549					D3DRX0|Q659E3|Q6P7E5|Q9HA74	Missense_Mutation	SNP	ENST00000263063.4	37	c.2036T>G	CCDS7165.1	.	.	.	.	.	.	.	.	.	.	A	2.687	-0.273940	0.05679	.	.	ENSG00000107951	ENST00000358107;ENST00000263063	T;T	0.29917	2.25;1.55	5.88	0.917	0.19380	.	1.630280	0.03103	N	0.161414	T	0.19967	0.0480	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.08055	0.003;0.001	T	0.31943	-0.9925	10	0.49607	T	0.09	-0.3021	10.5012	0.44806	0.4111:0.0:0.5889:0.0	.	679;549	Q9NVV4-2;Q9NVV4	.;PAPD1_HUMAN	C	679;549	ENSP00000350820:F679C;ENSP00000263063:F549C	ENSP00000263063:F549C	F	-	2	0	MTPAP	30642647	0.201000	0.23410	0.000000	0.03702	0.000000	0.00434	1.007000	0.29860	-0.074000	0.12820	-0.798000	0.03219	TTT		0.393	MTPAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047426.2	NM_018109		18	33	0	0	0	1	0	18	33				
OR2T27	403239	broad.mit.edu	37	1	248813468	248813468	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr1:248813468T>G	ENST00000344889.3	-	1	717	c.718A>C	c.(718-720)Acc>Ccc	p.T240P		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	240						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GAGGAGCAGGTGGCCACAGCC	0.532																																						ENST00000344889.3																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32						c.(718-720)Acc>Ccc		olfactory receptor, family 2, subfamily T, member 27							48.0	32.0	37.0					1																	248813468		2184	4258	6442	SO:0001583	missense	403239				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248813468T>G		CCDS31124.1	1q44	2012-08-09			ENSG00000187701	ENSG00000187701		"""GPCR / Class A : Olfactory receptors"""	31252	protein-coding gene	gene with protein product							Standard	NM_001001824		Approved		uc010pzo.2	Q8NH04	OTTHUMG00000040376	ENST00000344889.3:c.718A>C	1.37:g.248813468T>G	ENSP00000342008:p.Thr240Pro						p.T240P	NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	717	-	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	240						Missense_Mutation	SNP	ENST00000344889.3	37	c.718A>C	CCDS31124.1	.	.	.	.	.	.	.	.	.	.	.	12.83	2.055187	0.36277	.	.	ENSG00000187701	ENST00000344889	T	0.42131	0.98	3.42	2.23	0.28157	GPCR, rhodopsin-like superfamily (1);	0.183072	0.26314	N	0.025096	T	0.73048	0.3537	H	0.98111	4.15	0.28126	N	0.9304	D	0.89917	1.0	D	0.91635	0.999	T	0.67875	-0.5557	10	0.87932	D	0	.	8.1315	0.31029	0.1805:0.0:0.0:0.8195	.	240	Q8NH04	O2T27_HUMAN	P	240	ENSP00000342008:T240P	ENSP00000342008:T240P	T	-	1	0	OR2T27	246880091	1.000000	0.71417	0.980000	0.43619	0.130000	0.20726	6.686000	0.74548	0.466000	0.27193	0.329000	0.21502	ACC		0.532	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097124.1	NM_001001824		5	16	0	0	0	1	0	5	16				
MRGPRE	116534	broad.mit.edu	37	11	3249681	3249681	+	Missense_Mutation	SNP	C	C	T	rs200462560	byFrequency	TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr11:3249681C>T	ENST00000389832.5	-	2	655	c.349G>A	c.(349-351)Gtc>Atc	p.V117I	MRGPRE_ENST00000436689.2_Missense_Mutation_p.V116I|AC109309.4_ENST00000418995.2_RNA			Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCCACGCTGACGGCCGCCAGG	0.687													C|||	6	0.00119808	0.0015	0.0	5008	,	,		16154	0.003		0.001	False		,,,				2504	0.0					ENST00000389832.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19						c.(349-351)Gtc>Atc		MAS-related GPR, member E		C	ILE/VAL	1,4369		0,1,2184	20.0	28.0	25.0		346	-1.3	0.1	11		25	12,8564		0,12,4276	yes	missense	MRGPRE	NM_001039165.2	29	0,13,6460	TT,TC,CC		0.1399,0.0229,0.1004	benign	116/312	3249681	13,12933	2185	4288	6473	SO:0001583	missense	116534					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:3249681C>T	AY255572	CCDS41603.1, CCDS41603.2	11p15.5	2012-08-21	2004-03-25		ENSG00000184350	ENSG00000184350		"""GPCR / Class A : Orphans"""	30694	protein-coding gene	gene with protein product		607232	"""G protein-coupled receptor 167"""	GPR167		11551509	Standard	NM_001039165		Approved	mrgE	uc001lxq.5	Q86SM8	OTTHUMG00000011708	ENST00000389832.5:c.349G>A	11.37:g.3249681C>T	ENSP00000374482:p.Val117Ile					MRGPRE_ENST00000436689.2_Missense_Mutation_p.V116I|AC109309.4_ENST00000418995.2_RNA	p.V117I			Q86SM8	MRGRE_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)	2	655	-		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	116					Q2M1V7	Missense_Mutation	SNP	ENST00000389832.5	37	c.349G>A		2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	c	0.018	-1.487167	0.01018	2.29E-4	0.001399	ENSG00000184350	ENST00000436689;ENST00000389832	.	.	.	3.61	-1.33	0.09172	GPCR, rhodopsin-like superfamily (1);	0.349613	0.19524	N	0.112209	T	0.04588	0.0125	N	0.00263	-1.745	0.22424	N	0.999112	B	0.11235	0.004	B	0.09377	0.004	T	0.34625	-0.9821	9	0.02654	T	1	-11.2746	4.0601	0.09834	0.0:0.2555:0.1706:0.5739	.	116	Q86SM8	MRGRE_HUMAN	I	117;116	.	ENSP00000374482:V116I	V	-	1	0	MRGPRE	3206257	0.900000	0.30661	0.109000	0.21407	0.231000	0.25187	-0.366000	0.07563	-0.493000	0.06678	0.484000	0.47621	GTC		0.687	MRGPRE-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000032346.5	XM_171536		9	23	0	0	0	1	0	9	23				
OR2T8	343172	broad.mit.edu	37	1	248085070	248085070	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr1:248085070G>A	ENST00000319968.4	+	1	751	c.751G>A	c.(751-753)Gga>Aga	p.G251R		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	251						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ACTCTTTTATGGAGCTGCCAT	0.493																																						ENST00000319968.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						c.(751-753)Gga>Aga		olfactory receptor, family 2, subfamily T, member 8							22.0	23.0	23.0					1																	248085070		2192	4277	6469	SO:0001583	missense	343172				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248085070G>A		CCDS31100.1	1q44	2012-08-09		2004-03-10	ENSG00000177462	ENSG00000177462		"""GPCR / Class A : Olfactory receptors"""	15020	protein-coding gene	gene with protein product				OR2T8P			Standard	XM_005273117		Approved		uc010pzc.2	A6NH00	OTTHUMG00000040205	ENST00000319968.4:c.751G>A	1.37:g.248085070G>A	ENSP00000326225:p.Gly251Arg						p.G251R	NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	751	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	251						Missense_Mutation	SNP	ENST00000319968.4	37	c.751G>A	CCDS31100.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.410459	0.42715	.	.	ENSG00000177462	ENST00000319968	T	0.39056	1.1	3.56	3.56	0.40772	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32802	U	0.005637	T	0.70753	0.3260	H	0.96111	3.77	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64326	-0.6434	10	0.87932	D	0	.	7.5454	0.27764	0.1739:0.0:0.8261:0.0	.	251	A6NH00	OR2T8_HUMAN	R	251	ENSP00000326225:G251R	ENSP00000326225:G251R	G	+	1	0	OR2T8	246151693	0.002000	0.14202	0.501000	0.27601	0.916000	0.54674	1.102000	0.31050	1.816000	0.52996	0.404000	0.27445	GGA		0.493	OR2T8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096862.1	NM_001005522		17	29	0	0	0	1	0	17	29				
TMEM132D	121256	broad.mit.edu	37	12	130184843	130184843	+	Silent	SNP	G	G	A	rs201922398		TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr12:130184843G>A	ENST00000422113.2	-	2	806	c.480C>T	c.(478-480)agC>agT	p.S160S	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	160					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TCTCCCCGGCGCTGCGGTCGT	0.642																																						ENST00000422113.2																			0				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(478-480)agC>agT		transmembrane protein 132D							22.0	23.0	23.0					12																	130184843		2203	4300	6503	SO:0001819	synonymous_variant	121256					integral to membrane		g.chr12:130184843G>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.480C>T	12.37:g.130184843G>A							p.S160S	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	2	806	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	160					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	ENST00000422113.2	37	c.480C>T	CCDS9266.1																																																																																				0.642	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		13	21	0	0	0	1	0	13	21				
SLC11A1	6556	broad.mit.edu	37	2	219259397	219259397	+	Silent	SNP	C	C	T			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr2:219259397C>T	ENST00000233202.6	+	14	1771	c.1431C>T	c.(1429-1431)tgC>tgT	p.C477C	SLC11A1_ENST00000539932.1_Silent_p.C359C	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	477					activation of protein kinase activity (GO:0032147)|antigen processing and presentation of peptide antigen (GO:0048002)|cadmium ion transmembrane transport (GO:0070574)|cellular cadmium ion homeostasis (GO:0006876)|cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|divalent metal ion export (GO:0070839)|inflammatory response (GO:0006954)|interaction with host (GO:0051701)|interleukin-2 production (GO:0032623)|interleukin-3 production (GO:0032632)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|L-arginine import (GO:0043091)|macrophage activation (GO:0042116)|manganese ion transport (GO:0006828)|MHC class II biosynthetic process (GO:0045342)|mRNA stabilization (GO:0048255)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cytokine production (GO:0001818)|nitrite transport (GO:0015707)|phagocytosis (GO:0006909)|phagosome maturation (GO:0090382)|positive regulation of cytokine production (GO:0001819)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of gene expression (GO:0010628)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus, translocation (GO:0000060)|respiratory burst (GO:0045730)|response to bacterium (GO:0009617)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|T cell cytokine production (GO:0002369)|T cell proliferation involved in immune response (GO:0002309)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|wound healing (GO:0042060)	cell outer membrane (GO:0009279)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosome (GO:0005764)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|tertiary granule membrane (GO:0070821)	manganese ion transmembrane transporter activity (GO:0005384)|metal ion:proton antiporter activity (GO:0051139)|protein homodimerization activity (GO:0042803)|transition metal ion transmembrane transporter activity (GO:0046915)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCTAGTCTGCGCCATCAACC	0.617																																						ENST00000233202.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1429-1431)tgC>tgT		solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1							157.0	141.0	146.0					2																	219259397		2203	4300	6503	SO:0001819	synonymous_variant	6556				activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity	g.chr2:219259397C>T	D38171	CCDS2415.1	2q35	2013-07-18	2013-07-18		ENSG00000018280	ENSG00000018280		"""Solute carriers"""	10907	protein-coding gene	gene with protein product	"""natural resistance-associated macrophage protein 1"""	600266		LSH, NRAMP, NRAMP1		7964458, 7980580	Standard	NM_000578		Approved		uc002vhv.3	P49279	OTTHUMG00000086747	ENST00000233202.6:c.1431C>T	2.37:g.219259397C>T						SLC11A1_ENST00000539932.1_Silent_p.C359C	p.C477C	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	14	1771	+		Renal(207;0.0474)	477					C0H5Y3	Silent	SNP	ENST00000233202.6	37	c.1431C>T	CCDS2415.1																																																																																				0.617	SLC11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195076.2	NM_000578		12	88	0	0	0	1	0	12	88				
MDN1	23195	broad.mit.edu	37	6	90472240	90472240	+	Silent	SNP	C	C	T	rs527741590		TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr6:90472240C>T	ENST00000369393.3	-	16	2269	c.2154G>A	c.(2152-2154)ccG>ccA	p.P718P	MDN1_ENST00000428876.1_Silent_p.P718P			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	718					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TATGGTCCACCGGTTTATAAC	0.413																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(2152-2154)ccG>ccA		MDN1, midasin homolog (yeast)							71.0	66.0	68.0					6																	90472240		2203	4300	6503	SO:0001819	synonymous_variant	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90472240C>T	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.2154G>A	6.37:g.90472240C>T						MDN1_ENST00000428876.1_Silent_p.P718P	p.P718P			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	16	2269	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	718					O15019|Q5T794	Silent	SNP	ENST00000369393.3	37	c.2154G>A	CCDS5024.1																																																																																				0.413	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			11	40	0	0	0	1	0	11	40				
PSAP	5660	broad.mit.edu	37	10	73579488	73579488	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr10:73579488C>T	ENST00000394936.3	-	10	1322	c.1175G>A	c.(1174-1176)cGg>cAg	p.R392Q	PSAP_ENST00000394934.1_Missense_Mutation_p.R394Q			P07602	SAP_HUMAN	prosaposin	392	Saposin B-type 3. {ECO:0000255|PROSITE- ProRule:PRU00415}.				blood coagulation (GO:0007596)|cellular response to organic substance (GO:0071310)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|glycosphingolipid metabolic process (GO:0006687)|lipid transport (GO:0006869)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catalytic activity (GO:0043085)|prostate gland growth (GO:0060736)|regulation of lipid metabolic process (GO:0019216)|regulation of MAPK cascade (GO:0043408)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|lipid binding (GO:0008289)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						TGCAGGCAGCCGCGTGCCAGA	0.677																																						ENST00000394936.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						c.(1174-1176)cGg>cAg		prosaposin							36.0	35.0	35.0					10																	73579488		2203	4300	6503	SO:0001583	missense	5660				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding	g.chr10:73579488C>T	BC004275	CCDS7311.1	10q21-q22	2014-01-30	2008-07-31		ENSG00000197746	ENSG00000197746		"""Endogenous ligands"""	9498	protein-coding gene	gene with protein product	"""variant Gaucher disease and variant metachromatic leukodystrophy"""	176801	"""sphingolipid activator protein-1"""	SAP1, GLBA		2717620	Standard	NM_001042465		Approved		uc001jsm.3	P07602	OTTHUMG00000018429	ENST00000394936.3:c.1175G>A	10.37:g.73579488C>T	ENSP00000378394:p.Arg392Gln					PSAP_ENST00000394934.1_Missense_Mutation_p.R394Q	p.R392Q			P07602	SAP_HUMAN			10	1322	-			392			Saposin B-type 3.		P07292|P15793|P78538|P78541|P78546|P78547|P78558|Q53Y86|Q6IBQ6|Q92739|Q92740|Q92741|Q92742	Missense_Mutation	SNP	ENST00000394936.3	37	c.1175G>A	CCDS7311.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.175553	0.38413	.	.	ENSG00000197746	ENST00000394936;ENST00000373120;ENST00000357471;ENST00000394934;ENST00000394929;ENST00000404083;ENST00000394940	D;D	0.89810	-2.57;-2.57	5.67	0.914	0.19360	Saposin-like (1);Saposin B (1);	0.719951	0.13559	N	0.378917	T	0.78136	0.4236	L	0.38175	1.15	0.09310	N	1	B	0.30033	0.266	B	0.23574	0.047	T	0.61515	-0.7047	10	0.19147	T	0.46	-5.9641	4.3326	0.11071	0.1467:0.4694:0.0:0.3839	.	392	P07602	SAP_HUMAN	Q	392;392;395;394;108;398;318	ENSP00000378394:R392Q;ENSP00000378392:R394Q	ENSP00000350063:R395Q	R	-	2	0	PSAP	73249494	0.000000	0.05858	0.028000	0.17463	0.042000	0.13812	-1.727000	0.01860	0.168000	0.19655	-0.150000	0.13652	CGG		0.677	PSAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048553.1	NM_002778		13	16	0	0	0	1	0	13	16				
CX3CR1	1524	broad.mit.edu	37	3	39307575	39307575	+	Silent	SNP	G	G	A	rs377299023		TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr3:39307575G>A	ENST00000541347.1	-	2	665	c.426C>T	c.(424-426)acC>acT	p.T142T	CX3CR1_ENST00000358309.3_Silent_p.T174T|CX3CR1_ENST00000542107.1_Silent_p.T142T|CX3CR1_ENST00000399220.2_Silent_p.T142T	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	142					cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cerebral cortex cell migration (GO:0021795)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|macrophage chemotaxis (GO:0048246)|microglial cell activation involved in immune response (GO:0002282)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|response to wounding (GO:0009611)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|neuronal cell body membrane (GO:0032809)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-X3-C chemokine receptor activity (GO:0016495)|chemokine receptor activity (GO:0004950)			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		CATGCTGCACGGTCCGGTTGT	0.522																																						ENST00000541347.1																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(424-426)acC>acT		chemokine (C-X3-C motif) receptor 1		G	,,,	0,4192		0,0,2096	94.0	97.0	96.0		426,426,522,426	-11.5	0.0	3		96	1,8449		0,1,4224	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CX3CR1	NM_001171171.1,NM_001171172.1,NM_001171174.1,NM_001337.3	,,,	0,1,6320	AA,AG,GG		0.0118,0.0,0.0079	,,,	142/356,142/356,174/388,142/356	39307575	1,12641	2096	4225	6321	SO:0001819	synonymous_variant	1524				cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity	g.chr3:39307575G>A	BC028078	CCDS43069.1, CCDS54571.1	3p21.3	2012-08-08	2002-08-22		ENSG00000168329	ENSG00000168329		"""GPCR / Class A : Chemokine receptors : C-X-3-C motif"""	2558	protein-coding gene	gene with protein product		601470	"""chemokine (C-X3-C) receptor 1"""	GPR13, CMKBRL1		9726990, 7646814	Standard	NM_001171171		Approved	CMKDR1, V28, CCRL1	uc021wwc.1	P49238	OTTHUMG00000156249	ENST00000541347.1:c.426C>T	3.37:g.39307575G>A						CX3CR1_ENST00000399220.2_Silent_p.T142T|CX3CR1_ENST00000358309.3_Silent_p.T174T|CX3CR1_ENST00000542107.1_Silent_p.T142T	p.T142T	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)	2	665	-			142					A0N0N6|B2R5Z4|J3KP17	Silent	SNP	ENST00000541347.1	37	c.426C>T	CCDS43069.1																																																																																				0.522	CX3CR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343613.1	NM_001337		18	61	0	0	0	1	0	18	61				
ZNF391	346157	broad.mit.edu	37	6	27368400	27368400	+	Missense_Mutation	SNP	C	C	T	rs766091	byFrequency	TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr6:27368400C>T	ENST00000244576.4	+	3	796	c.251C>T	c.(250-252)cCa>cTa	p.P84L		NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	84					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)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						CATGGATCCCCAATATCTAGG	0.378																																						ENST00000244576.4																			0				endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						c.(250-252)cCa>cTa		zinc finger protein 391							73.0	68.0	70.0					6																	27368400		1831	4089	5920	SO:0001583	missense	346157				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27368400C>T	BC132797	CCDS43429.1	6p21	2013-01-08			ENSG00000124613	ENSG00000124613		"""Zinc fingers, C2H2-type"""	18779	protein-coding gene	gene with protein product							Standard	NM_001076781		Approved	dJ153G14.3	uc003njf.1	Q9UJN7	OTTHUMG00000014477	ENST00000244576.4:c.251C>T	6.37:g.27368400C>T	ENSP00000244576:p.Pro84Leu						p.P84L	NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN			3	796	+			84					B4DH77	Missense_Mutation	SNP	ENST00000244576.4	37	c.251C>T	CCDS43429.1	.	.	.	.	.	.	.	.	.	.	C	7.450	0.642408	0.14451	.	.	ENSG00000124613	ENST00000244576;ENST00000461521	T;T	0.08193	3.12;5.97	3.12	-3.92	0.04155	.	.	.	.	.	T	0.01523	0.0049	L	0.49256	1.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48293	-0.9048	9	0.11794	T	0.64	.	3.7931	0.08728	0.3505:0.1926:0.0:0.4569	rs766091;rs766091	84	Q9UJN7	ZN391_HUMAN	L	84	ENSP00000244576:P84L;ENSP00000419498:P84L	ENSP00000244576:P84L	P	+	2	0	ZNF391	27476379	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-1.704000	0.01898	-1.078000	0.03117	-0.136000	0.14681	CCA		0.378	ZNF391-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040145.2	NM_001076781		3	60	0	0	0	1	0	3	60				
PDE8A	5151	broad.mit.edu	37	15	85656622	85656622	+	Nonsense_Mutation	SNP	C	C	T	rs141263963		TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr15:85656622C>T	ENST00000310298.4	+	14	1381	c.1129C>T	c.(1129-1131)Cga>Tga	p.R377*	PDE8A_ENST00000557957.1_Nonsense_Mutation_p.R305*|PDE8A_ENST00000339708.5_Nonsense_Mutation_p.R331*|PDE8A_ENST00000557819.2_3'UTR|PDE8A_ENST00000394553.1_Nonsense_Mutation_p.R377*			O60658	PDE8A_HUMAN	phosphodiesterase 8A	377					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|phosphorelay signal transduction system (GO:0000160)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)		Caffeine(DB00201)|Ketotifen(DB00920)	CAGCCAGAGACGACACTCTTC	0.537																																						ENST00000310298.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25						c.(1129-1131)Cga>Tga		phosphodiesterase 8A		C	stop/ARG,stop/ARG	1,4405	2.1+/-5.4	0,1,2202	161.0	135.0	144.0		1129,991	4.0	1.0	15	dbSNP_134	144	0,8598		0,0,4299	no	stop-gained,stop-gained	PDE8A	NM_002605.2,NM_173454.1	,	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	,	377/830,331/784	85656622	1,13003	2203	4299	6502	SO:0001587	stop_gained	5151				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr15:85656622C>T	AF056490	CCDS10336.1, CCDS10337.1, CCDS58397.1	15q25.3	2008-05-14			ENSG00000073417	ENSG00000073417	3.1.4.17	"""Phosphodiesterases"""	8793	protein-coding gene	gene with protein product		602972				9618252	Standard	NM_001243137		Approved	HsT19550	uc002blh.3	O60658	OTTHUMG00000148670	ENST00000310298.4:c.1129C>T	15.37:g.85656622C>T	ENSP00000311453:p.Arg377*					PDE8A_ENST00000557819.2_3'UTR|PDE8A_ENST00000394553.1_Nonsense_Mutation_p.R377*|PDE8A_ENST00000557957.1_Nonsense_Mutation_p.R305*|PDE8A_ENST00000339708.5_Nonsense_Mutation_p.R331*	p.R377*			O60658	PDE8A_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0608)		14	1381	+	Colorectal(223;0.227)		377					B3KXE6|H0YMZ7|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	Nonsense_Mutation	SNP	ENST00000310298.4	37	c.1129C>T	CCDS10336.1	.	.	.	.	.	.	.	.	.	.	C	37	6.195200	0.97367	2.27E-4	0.0	ENSG00000073417	ENST00000310298;ENST00000394553;ENST00000339708	.	.	.	4.92	3.98	0.46160	.	0.625233	0.14703	N	0.303410	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.9751	0.53087	0.1807:0.8193:0.0:0.0	.	.	.	.	X	377;377;331	.	ENSP00000311453:R377X	R	+	1	2	PDE8A	83457626	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.118000	0.41949	1.233000	0.43693	0.655000	0.94253	CGA		0.537	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309018.1	NM_002605		21	78	0	0	0	1	0	21	78				
FAM179B	23116	broad.mit.edu	37	14	45432836	45432836	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr14:45432836C>G	ENST00000361577.3	+	1	1426	c.1212C>G	c.(1210-1212)gaC>gaG	p.D404E	KLHL28_ENST00000355081.2_5'Flank|FAM179B_ENST00000382233.2_Missense_Mutation_p.D404E|KLHL28_ENST00000553817.1_5'Flank|FAM179B_ENST00000361462.2_Missense_Mutation_p.D404E|KLHL28_ENST00000396128.4_5'Flank	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	404										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						ATTTGTTAGACGATTCTAACT	0.423																																						ENST00000361462.2																			0				endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						c.(1210-1212)gaC>gaG		family with sequence similarity 179, member B							81.0	83.0	82.0					14																	45432836		2203	4300	6503	SO:0001583	missense	23116						binding	g.chr14:45432836C>G	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.1212C>G	14.37:g.45432836C>G	ENSP00000355045:p.Asp404Glu					FAM179B_ENST00000361577.3_Missense_Mutation_p.D404E|FAM179B_ENST00000382233.2_Missense_Mutation_p.D404E	p.D404E			Q9Y4F4	F179B_HUMAN			1	1395	+			404					Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	c.1212C>G	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.321189	0.41096	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	T;T;T	0.63744	0.77;0.77;-0.06	4.28	-2.02	0.07388	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000004	T	0.66218	0.2767	L	0.42245	1.32	0.31711	N	0.639561	P;D;D;P	0.89917	0.657;0.999;1.0;0.657	P;D;D;P	0.87578	0.715;0.995;0.998;0.715	T	0.67546	-0.5643	10	0.44086	T	0.13	-12.2817	10.4726	0.44646	0.0:0.3936:0.0:0.6064	.	404;404;404;404	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	E	404	ENSP00000355045:D404E;ENSP00000354917:D404E;ENSP00000371668:D404E	ENSP00000354917:D404E	D	+	3	2	FAM179B	44502586	0.946000	0.32159	0.991000	0.47740	0.906000	0.53458	-0.021000	0.12504	-0.347000	0.08299	-1.090000	0.02178	GAC		0.423	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		23	26	0	0	0	1	0	23	26				
FSCN3	29999	broad.mit.edu	37	7	127235509	127235509	+	Missense_Mutation	SNP	G	G	A	rs35505193	byFrequency	TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr7:127235509G>A	ENST00000265825.5	+	2	512	c.293G>A	c.(292-294)cGt>cAt	p.R98H	FSCN3_ENST00000478328.1_3'UTR|FSCN3_ENST00000420086.2_5'UTR|GCC1_ENST00000497650.1_5'Flank	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin actin-bundling protein 3, testicular	98						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						TTTCTACTGCGTTTCCACCGG	0.557													G|||	4	0.000798722	0.003	0.0	5008	,	,		19973	0.0		0.0	False		,,,				2504	0.0					ENST00000265825.5																			0				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(292-294)cGt>cAt		fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)		G	HIS/ARG	18,4388	26.2+/-53.5	0,18,2185	151.0	115.0	127.0		293	3.8	0.8	7	dbSNP_126	127	1,8599	1.2+/-3.3	0,1,4299	yes	missense	FSCN3	NM_020369.2	29	0,19,6484	AA,AG,GG		0.0116,0.4085,0.1461	probably-damaging	98/499	127235509	19,12987	2203	4300	6503	SO:0001583	missense	29999					actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging	g.chr7:127235509G>A		CCDS34746.1	7q31.3	2014-02-03	2014-02-03		ENSG00000106328	ENSG00000106328		"""Fascins"""	3961	protein-coding gene	gene with protein product		615800	"""fascin (Strongylocentrotus purpuratus) homolog 3 (actin-bundling protein, testicular)"", ""fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)"""			11925108	Standard	NM_020369		Approved		uc003vmd.2	Q9NQT6	OTTHUMG00000022935	ENST00000265825.5:c.293G>A	7.37:g.127235509G>A	ENSP00000265825:p.Arg98His					FSCN3_ENST00000420086.2_5'UTR|FSCN3_ENST00000478328.1_3'UTR	p.R98H	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN			2	512	+			98					A4D0Z2|A6NLL7|B2RA62|B4DU68	Missense_Mutation	SNP	ENST00000265825.5	37	c.293G>A	CCDS34746.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	14.58	2.577970	0.45902	0.004085	1.16E-4	ENSG00000106328	ENST00000265825	T	0.22539	1.95	5.59	3.8	0.43715	Fascin domain (1);Actin cross-linking (1);	0.093074	0.48286	N	0.000190	T	0.30947	0.0781	M	0.63428	1.95	0.80722	D	1	D	0.61080	0.989	P	0.53490	0.727	T	0.02307	-1.1179	10	0.38643	T	0.18	-34.499	9.2398	0.37489	0.1683:0.0:0.8317:0.0	rs35505193	98	Q9NQT6	FSCN3_HUMAN	H	98	ENSP00000265825:R98H	ENSP00000265825:R98H	R	+	2	0	FSCN3	127022745	0.286000	0.24305	0.820000	0.32676	0.316000	0.28119	1.492000	0.35594	0.842000	0.35045	-0.150000	0.13652	CGT		0.557	FSCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059256.2	NM_020369		14	37	0	0	0	1	0	14	37				
PTPRM	5797	broad.mit.edu	37	18	7949214	7949214	+	Silent	SNP	C	C	T			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr18:7949214C>T	ENST00000332175.8	+	6	1736	c.699C>T	c.(697-699)atC>atT	p.I233I	PTPRM_ENST00000400053.4_Silent_p.I171I|PTPRM_ENST00000444013.1_Silent_p.I20I|PTPRM_ENST00000400060.4_Silent_p.I233I|PTPRM_ENST00000580170.1_Silent_p.I233I	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	233	Ig-like C2-type.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TGAAGGAAATCAAGGTGACCA	0.473																																						ENST00000332175.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90						c.(697-699)atC>atT		protein tyrosine phosphatase, receptor type, M							132.0	117.0	122.0					18																	7949214		2203	4300	6503	SO:0001819	synonymous_variant	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:7949214C>T	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.699C>T	18.37:g.7949214C>T						PTPRM_ENST00000400053.4_Silent_p.I171I|PTPRM_ENST00000400060.4_Silent_p.I233I|PTPRM_ENST00000580170.1_Silent_p.I233I|PTPRM_ENST00000444013.1_Silent_p.I20I	p.I233I	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN			6	1736	+		Colorectal(10;0.234)	233			Ig-like C2-type.		A7MBN1|D3DUH8|J3QL11	Silent	SNP	ENST00000332175.8	37	c.699C>T	CCDS11840.1																																																																																				0.473	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			12	64	0	0	0	1	0	12	64				
CCSER1	401145	broad.mit.edu	37	4	91229626	91229626	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr4:91229626G>A	ENST00000509176.1	+	2	479	c.191G>A	c.(190-192)cGt>cAt	p.R64H	CCSER1_ENST00000333691.8_Missense_Mutation_p.R64H|CCSER1_ENST00000432775.2_Missense_Mutation_p.R64H	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	64	Ser-rich.																AGCATATTCCGTACTCCTTCC	0.478																																						ENST00000509176.1																			0											c.(190-192)cGt>cAt		coiled-coil serine-rich protein 1							149.0	140.0	143.0					4																	91229626		1997	4160	6157	SO:0001583	missense	401145							g.chr4:91229626G>A		CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"""family with sequence similarity 190, member A"""	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.191G>A	4.37:g.91229626G>A	ENSP00000425040:p.Arg64His					CCSER1_ENST00000333691.8_Missense_Mutation_p.R64H|CCSER1_ENST00000432775.2_Missense_Mutation_p.R64H	p.R64H	NM_001145065.1	NP_001138537.1					2	479	+								Q4W5M0|Q86V57	Missense_Mutation	SNP	ENST00000509176.1	37	c.191G>A	CCDS47099.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.766545	0.90020	.	.	ENSG00000184305	ENST00000509176;ENST00000432775;ENST00000333691;ENST00000458365	T;T;T	0.65916	0.25;-0.18;0.25	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.75591	0.3870	L	0.48642	1.525	0.48975	D	0.999732	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.77013	-0.2745	10	0.87932	D	0	-18.1716	19.5936	0.95526	0.0:0.0:1.0:0.0	.	64;64;64	Q9C0I3-2;Q9C0I3;E7EUW0	.;F190A_HUMAN;.	H	64	ENSP00000425040:R64H;ENSP00000389283:R64H;ENSP00000329482:R64H	ENSP00000329482:R64H	R	+	2	0	FAM190A	91448649	1.000000	0.71417	0.973000	0.42090	0.976000	0.68499	9.125000	0.94402	2.793000	0.96121	0.655000	0.94253	CGT		0.478	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065		14	41	0	0	0	1	0	14	41				
SMYD5	10322	broad.mit.edu	37	2	73441468	73441468	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr2:73441468T>C	ENST00000389501.4	+	1	119	c.74T>C	c.(73-75)gTc>gCc	p.V25A		NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	25	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						TCCGTGGAAGTCCGTTTCGTG	0.716																																						ENST00000389501.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						c.(73-75)gTc>gCc		SMYD family member 5							66.0	79.0	75.0					2																	73441468		1960	4139	6099	SO:0001583	missense	10322						metal ion binding	g.chr2:73441468T>C	U50383	CCDS33221.2	2p12	2007-02-09	2003-05-14	2003-05-16	ENSG00000135632	ENSG00000135632		"""Zinc fingers, MYND-type"""	16258	protein-coding gene	gene with protein product			"""retinoic acid induced 15"""	RAI15		8754834	Standard	NM_006062		Approved	RRG1, NN8-4AG, ZMYND23	uc002siw.2	Q6GMV2	OTTHUMG00000150482	ENST00000389501.4:c.74T>C	2.37:g.73441468T>C	ENSP00000374152:p.Val25Ala						p.V25A	NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN			1	119	+			25					D6W5H3|Q13558	Missense_Mutation	SNP	ENST00000389501.4	37	c.74T>C	CCDS33221.2	.	.	.	.	.	.	.	.	.	.	T	22.0	4.227379	0.79576	.	.	ENSG00000135632	ENST00000389501	T	0.55413	0.52	5.46	5.46	0.80206	SET domain (1);	0.144578	0.46442	D	0.000290	T	0.33876	0.0878	N	0.14661	0.345	0.47407	D	0.999419	P	0.36027	0.533	B	0.28709	0.093	T	0.35126	-0.9801	10	0.62326	D	0.03	-17.8646	13.4696	0.61276	0.0:0.0:0.0:1.0	.	25	Q6GMV2	SMYD5_HUMAN	A	25	ENSP00000374152:V25A	ENSP00000258100:V25A	V	+	2	0	SMYD5	73294976	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.237000	0.58681	2.066000	0.61787	0.533000	0.62120	GTC		0.716	SMYD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318301.1	NM_006062		55	142	0	0	0	1	0	55	142				
LCE3A	353142	broad.mit.edu	37	1	152595412	152595412	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr1:152595412C>A	ENST00000335674.1	-	1	167	c.168G>T	c.(166-168)agG>agT	p.R56S		NM_178431.1	NP_848518.1	Q5TA76	LCE3A_HUMAN	late cornified envelope 3A	56					keratinization (GO:0031424)					endometrium(1)|lung(5)	6	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AACGGTGAGACCTGCGGCATC	0.652																																						ENST00000335674.1																			0				endometrium(1)|lung(5)	6						c.(166-168)agG>agT		late cornified envelope 3A							50.0	53.0	52.0					1																	152595412		2203	4300	6503	SO:0001583	missense	353142				keratinization			g.chr1:152595412C>A		CCDS1017.1	1q21.3	2008-02-05			ENSG00000185962	ENSG00000185962		"""Late cornified envelopes"""	29461	protein-coding gene	gene with protein product		612613				11698679	Standard	NM_178431		Approved	LEP13	uc010pdt.2	Q5TA76	OTTHUMG00000012397	ENST00000335674.1:c.168G>T	1.37:g.152595412C>A	ENSP00000335006:p.Arg56Ser						p.R56S	NM_178431.1	NP_848518.1	Q5TA76	LCE3A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		1	167	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		56						Missense_Mutation	SNP	ENST00000335674.1	37	c.168G>T	CCDS1017.1	.	.	.	.	.	.	.	.	.	.	C	6.434	0.448255	0.12223	.	.	ENSG00000185962	ENST00000335674	T	0.05081	3.5	3.48	-0.81	0.10860	.	.	.	.	.	T	0.01454	0.0047	.	.	.	0.09310	N	1	P	0.36535	0.557	B	0.31191	0.125	T	0.44922	-0.9296	8	0.87932	D	0	.	6.33	0.21264	0.0:0.4727:0.0:0.5273	.	56	Q5TA76	LCE3A_HUMAN	S	56	ENSP00000335006:R56S	ENSP00000335006:R56S	R	-	3	2	LCE3A	150862036	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	-0.450000	0.06803	-0.040000	0.13580	-0.182000	0.12963	AGG		0.652	LCE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034517.2	NM_178431		20	52	1	0	1.33834e-09	1	1.33834e-09	20	52				
EDAR	10913	broad.mit.edu	37	2	109527350	109527350	+	Intron	SNP	G	G	A	rs540285589		TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr2:109527350G>A	ENST00000258443.2	-	8	1086				EDAR_ENST00000376651.1_Silent_p.P236P|EDAR_ENST00000409271.1_Silent_p.P236P	NM_022336.3	NP_071731.1	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor						apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|epidermis development (GO:0008544)|hair follicle development (GO:0001942)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|salivary gland cavitation (GO:0060662)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						CTCCGACAGGGGGAGTTGACG	0.637																																						ENST00000409271.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						c.(706-708)ccC>ccT		ectodysplasin A receptor							55.0	55.0	55.0					2																	109527350		2203	4300	6503	SO:0001627	intron_variant	10913				apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity	g.chr2:109527350G>A	AF130988	CCDS2081.1	2q13	2013-05-22	2004-08-09		ENSG00000135960	ENSG00000135960		"""Tumor necrosis factor receptor superfamily"""	2895	protein-coding gene	gene with protein product		604095	"""ectodysplasin 1, anhidrotic receptor"""	ED3, DL		10431241, 9375732	Standard	NM_022336		Approved	ED5, EDA3, Edar, ED1R, EDA1R	uc002teq.4	Q9UNE0	OTTHUMG00000130982	ENST00000258443.2:c.656-44C>T	2.37:g.109527350G>A						EDAR_ENST00000376651.1_Silent_p.P236P|EDAR_ENST00000258443.2_Intron	p.P236P			Q9UNE0	EDAR_HUMAN			8	1151	-			217					B2R9H2|B4DLC5|D3DX74|E9PC98|Q52LL5|Q9UND9	Silent	SNP	ENST00000258443.2	37	c.708C>T	CCDS2081.1																																																																																				0.637	EDAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253595.1			11	16	0	0	0	1	0	11	16				
DEPDC1	55635	broad.mit.edu	37	1	68947217	68947217	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr1:68947217C>T	ENST00000456315.2	-	9	1955	c.1841G>A	c.(1840-1842)cGt>cAt	p.R614H	DEPDC1_ENST00000370966.5_Missense_Mutation_p.R330H|RP4-694A7.2_ENST00000425820.1_RNA	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	614	Interaction with ZNF224.				intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase activator activity (GO:0005096)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		AAGCTTTCTACGATTTGGTGG	0.423																																						ENST00000456315.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(1840-1842)cGt>cAt		DEP domain containing 1							76.0	72.0	73.0					1																	68947217		2203	4300	6503	SO:0001583	missense	55635				intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding	g.chr1:68947217C>T	AK000361	CCDS644.1, CCDS44159.1	1p31.2	2008-08-19			ENSG00000024526	ENSG00000024526			22949	protein-coding gene	gene with protein product		612002					Standard	NM_001114120		Approved	DEP.8, FLJ20354, SDP35, DEPDC1A	uc001dem.4	Q5TB30	OTTHUMG00000009212	ENST00000456315.2:c.1841G>A	1.37:g.68947217C>T	ENSP00000412292:p.Arg614His					DEPDC1_ENST00000370966.5_Missense_Mutation_p.R330H|RP4-694A7.2_ENST00000425820.1_RNA	p.R614H	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)	9	1955	-			614			Interaction with ZNF224.		A8QXE0|A8QXE1|Q05DU3|Q5TB28|Q9H9I3|Q9NX21|Q9NXZ0	Missense_Mutation	SNP	ENST00000456315.2	37	c.1841G>A	CCDS44159.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.219046	0.79464	.	.	ENSG00000024526	ENST00000456315;ENST00000370966	D;D	0.91686	-2.89;-2.89	5.72	4.81	0.61882	Rho GTPase-activating protein domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	D	0.95149	0.8428	M	0.84326	2.69	0.36853	D	0.888028	D;P	0.89917	1.0;0.925	D;B	0.70487	0.969;0.406	D	0.96309	0.9227	10	0.87932	D	0	-6.098	14.9184	0.70815	0.0:0.9314:0.0:0.0686	.	614;330	Q5TB30;Q5TB30-2	DEP1A_HUMAN;.	H	614;330	ENSP00000412292:R614H;ENSP00000360005:R330H	ENSP00000360005:R330H	R	-	2	0	DEPDC1	68719805	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.299000	0.78831	1.413000	0.46997	0.655000	0.94253	CGT		0.423	DEPDC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025514.2	NM_017779		8	18	0	0	0	1	0	8	18				
MYO7A	4647	broad.mit.edu	37	11	76903158	76903158	+	Silent	SNP	C	C	T	rs560284703		TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr11:76903158C>T	ENST00000409709.3	+	31	4259	c.3987C>T	c.(3985-3987)taC>taT	p.Y1329Y	MYO7A_ENST00000458637.2_Silent_p.Y1329Y|MYO7A_ENST00000409619.2_Silent_p.Y1318Y	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1329	FERM 1. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GCGAGCAGTACGCCAAGGAGC	0.667											OREG0021258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000409709.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(3985-3987)taC>taT		myosin VIIA							47.0	55.0	53.0					11																	76903158		2116	4213	6329	SO:0001819	synonymous_variant	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76903158C>T	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.3987C>T	11.37:g.76903158C>T			OREG0021258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1171	MYO7A_ENST00000458637.2_Silent_p.Y1329Y|MYO7A_ENST00000409619.2_Silent_p.Y1318Y	p.Y1329Y	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN			31	4259	+			1329			FERM 1.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Silent	SNP	ENST00000409709.3	37	c.3987C>T	CCDS53683.1																																																																																				0.667	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		8	25	0	0	0	1	0	8	25				
RARB	5915	broad.mit.edu	37	3	25215976	25215976	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr3:25215976C>G	ENST00000404969.1	+	1	88	c.88C>G	c.(88-90)Cca>Gca	p.P30A	AC133680.1_ENST00000455576.1_lincRNA			P10826	RARB_HUMAN	retinoic acid receptor, beta	30	Modulating.				embryonic digestive tract development (GO:0048566)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|retinal pigment epithelium development (GO:0003406)|signal transduction (GO:0007165)|striatum development (GO:0021756)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tamibarotene(DB04942)|Tazarotene(DB00799)	GTTACTCTTTCCACCTGTCAT	0.607																																						ENST00000404969.1																			0				breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28						c.(88-90)Cca>Gca		retinoic acid receptor, beta	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)						162.0	141.0	147.0					3																	25215976		876	1991	2867	SO:0001583	missense	5915				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr3:25215976C>G	Y00291	CCDS2642.1, CCDS46775.1	3p24	2013-01-16			ENSG00000077092	ENSG00000077092		"""Nuclear hormone receptors"""	9865	protein-coding gene	gene with protein product		180220					Standard	NM_016152		Approved	HAP, NR1B2, RRB2	uc003cdh.3	P10826	OTTHUMG00000130480	ENST00000404969.1:c.88C>G	3.37:g.25215976C>G	ENSP00000385865:p.Pro30Ala						p.P30A			P10826	RARB_HUMAN			1	88	+			30			Modulating.		P12891|Q00989|Q15298|Q9UN48	Missense_Mutation	SNP	ENST00000404969.1	37	c.88C>G		.	.	.	.	.	.	.	.	.	.	C	23.8	4.458271	0.84317	.	.	ENSG00000077092	ENST00000383772;ENST00000404969;ENST00000538226	D;D	0.92199	-2.77;-2.99	5.88	5.88	0.94601	.	.	.	.	.	D	0.90229	0.6945	.	.	.	0.40568	D	0.981278	B	0.23540	0.087	B	0.21151	0.033	D	0.86052	0.1526	8	0.45353	T	0.12	.	20.2187	0.98312	0.0:1.0:0.0:0.0	.	30	P10826	RARB_HUMAN	A	30	ENSP00000373282:P30A;ENSP00000385865:P30A	ENSP00000373282:P30A	P	+	1	0	RARB	25190980	1.000000	0.71417	0.644000	0.29465	0.750000	0.42670	5.359000	0.66074	2.780000	0.95670	0.655000	0.94253	CCA		0.607	RARB-201	KNOWN	basic	protein_coding	protein_coding		NM_000965, NM_016152		31	66	0	0	0	1	0	31	66				
HCAR3	8843	broad.mit.edu	37	12	123201016	123201016	+	Missense_Mutation	SNP	C	C	T	rs373921960		TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr12:123201016C>T	ENST00000528880.2	-	1	423	c.269G>A	c.(268-270)cGt>cAt	p.R90H	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN	hydroxycarboxylic acid receptor 3	90					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Niacin(DB00627)	CCAGTCTGAACGCCGCACATA	0.537													C|||	1	0.000199681	0.0	0.0	5008	,	,		21431	0.001		0.0	False		,,,				2504	0.0					ENST00000528880.2																			0				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9						c.(268-270)cGt>cAt		hydroxycarboxylic acid receptor 3	Mepenzolate(DB04843)|Niacin(DB00627)	C	HIS/ARG	9,4397	15.5+/-35.6	0,9,2194	59.0	60.0	60.0		269	0.3	0.0	12	dbSNP_132	60	2,8598	2.2+/-6.3	0,2,4298	no	missense	HCAR3	NM_006018.2	29	0,11,6492	TT,TC,CC		0.0233,0.2043,0.0846	benign	90/388	123201016	11,12995	2203	4300	6503	SO:0001583	missense	8843					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr12:123201016C>T	D10923	CCDS53842.1	12q24.31	2012-08-08	2011-05-30	2011-05-30		ENSG00000255398		"""GPCR / Class A : Hydroxy-carboxylic acid receptors"""	16824	protein-coding gene	gene with protein product		606039	"""G protein-coupled receptor 109B"""	GPR109B		7505609, 9205127, 18983141, 21454438	Standard	NM_006018		Approved	HCA3, HM74	uc001ucy.4	P49019		ENST00000528880.2:c.269G>A	12.37:g.123201016C>T	ENSP00000436714:p.Arg90His					HCAR1_ENST00000356987.2_Intron	p.R90H	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN			1	423	-			90					A8K4G5|B2R830|E9PI97|Q8NGE4	Missense_Mutation	SNP	ENST00000528880.2	37	c.269G>A	CCDS53842.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.822880	0.00589	0.002043	2.33E-4	ENSG00000255398	ENST00000528880	T	0.37058	1.22	2.87	0.315	0.15852	.	.	.	.	.	T	0.17365	0.0417	N	0.11064	0.09	0.09310	N	1	B	0.14012	0.009	B	0.12156	0.007	T	0.22417	-1.0217	9	0.33141	T	0.24	.	5.7776	0.18287	0.0:0.2703:0.0:0.7297	.	90	E9PI97	.	H	90	ENSP00000436714:R90H	ENSP00000436714:R90H	R	-	2	0	HCAR3	121766969	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.911000	0.28584	-0.182000	0.10602	0.184000	0.17185	CGT		0.537	HCAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387549.2	NM_006018		11	22	0	0	0	1	0	11	22				
PCDHGB3	56102	broad.mit.edu	37	5	140751398	140751398	+	Silent	SNP	C	C	T	rs374832321		TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr5:140751398C>T	ENST00000576222.1	+	1	1568	c.1437C>T	c.(1435-1437)ccC>ccT	p.P479P	PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_5'Flank|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	479	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCGGATCCCGACTTGGGAC	0.617																																						ENST00000576222.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(1435-1437)ccC>ccT									91.0	94.0	93.0					5																	140751398		2082	4226	6308	SO:0001819	synonymous_variant	0							g.chr5:140751398C>T	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.1437C>T	5.37:g.140751398C>T						PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron	p.P479P	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1568	+								A7E229|Q9Y5C7	Silent	SNP	ENST00000576222.1	37	c.1437C>T	CCDS58980.1																																																																																				0.617	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		38	59	0	0	0	1	0	38	59				
HLTF	6596	broad.mit.edu	37	3	148756906	148756906	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr3:148756906A>C	ENST00000310053.5	-	23	2919	c.2726T>G	c.(2725-2727)cTt>cGt	p.L909R	HLTF_ENST00000465259.1_Missense_Mutation_p.L908R|HLTF_ENST00000392912.2_Missense_Mutation_p.L909R|HLTF_ENST00000494055.1_Missense_Mutation_p.L909R	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	909	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				chromatin modification (GO:0016568)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TAAGGACAGAAGCATTATAGT	0.378																																						ENST00000310053.5																			0				breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47						c.(2725-2727)cTt>cGt		helicase-like transcription factor							80.0	80.0	80.0					3																	148756906		2203	4300	6503	SO:0001583	missense	6596				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr3:148756906A>C	L34673	CCDS33875.1	3q25.1-q26.1	2006-11-09	2006-11-09	2006-11-09	ENSG00000071794	ENSG00000071794		"""RING-type (C3HC4) zinc fingers"""	11099	protein-coding gene	gene with protein product		603257	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3"""	SNF2L3, SMARCA3		7558014	Standard	NM_139048		Approved	HIP116A, HLTF1, RNF80	uc003ewr.1	Q14527	OTTHUMG00000159534	ENST00000310053.5:c.2726T>G	3.37:g.148756906A>C	ENSP00000308944:p.Leu909Arg					HLTF_ENST00000392912.2_Missense_Mutation_p.L909R|HLTF_ENST00000494055.1_Missense_Mutation_p.L909R|HLTF_ENST00000465259.1_Missense_Mutation_p.L908R	p.L909R	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		23	2919	-			909			Helicase C-terminal.		D3DNH3|Q14536|Q16051|Q7KYJ6|Q86YA5|Q92652|Q96KM9	Missense_Mutation	SNP	ENST00000310053.5	37	c.2726T>G	CCDS33875.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.638257	0.87760	.	.	ENSG00000071794	ENST00000465259;ENST00000310053;ENST00000392912;ENST00000494055;ENST00000467858	D;D;D;D;D	0.86097	-2.07;-2.07;-2.07;-2.07;-2.07	5.98	5.98	0.97165	Helicase, C-terminal (3);	.	.	.	.	D	0.95526	0.8546	H	0.97983	4.12	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.97172	0.9845	9	0.87932	D	0	-19.2515	16.1515	0.81626	1.0:0.0:0.0:0.0	.	909;909;909	Q59GQ7;A8K5B6;Q14527	.;.;HLTF_HUMAN	R	908;909;909;909;377	ENSP00000420745:L908R;ENSP00000308944:L909R;ENSP00000376644:L909R;ENSP00000420429:L909R;ENSP00000420106:L377R	ENSP00000308944:L909R	L	-	2	0	HLTF	150239596	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.628000	0.90979	2.288000	0.76882	0.528000	0.53228	CTT		0.378	HLTF-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356064.1			7	24	0	0	0	1	0	7	24				
GABRR1	2569	broad.mit.edu	37	6	89890145	89890145	+	Missense_Mutation	SNP	C	C	T	rs192148367		TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr6:89890145C>T	ENST00000454853.2	-	9	1122	c.1012G>A	c.(1012-1014)Gtc>Atc	p.V338I	GABRR1_ENST00000435811.1_Missense_Mutation_p.V321I|GABRR1_ENST00000369451.3_Missense_Mutation_p.V251I	NM_001256704.1|NM_002042.4	NP_001243633.1|NP_002033.2	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	338					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	ATGTAGGAGACGCGCGGCATG	0.537													C|||	1	0.000199681	0.0	0.0014	5008	,	,		23063	0.0		0.0	False		,,,				2504	0.0					ENST00000435811.1																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35						c.(961-963)Gtc>Atc		gamma-aminobutyric acid (GABA) A receptor, rho 1	Picrotoxin(DB00466)						160.0	127.0	138.0					6																	89890145		2203	4300	6503	SO:0001583	missense	2569				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr6:89890145C>T		CCDS5019.2, CCDS59028.1, CCDS59029.1	6q15	2012-06-22	2012-02-03		ENSG00000146276	ENSG00000146276		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4090	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 1"""	137161	"""gamma-aminobutyric acid (GABA) receptor, rho 1"""			1849271, 1315307	Standard	NM_002042		Approved		uc003pna.2	P24046	OTTHUMG00000015195	ENST00000454853.2:c.1012G>A	6.37:g.89890145C>T	ENSP00000412673:p.Val338Ile					GABRR1_ENST00000369451.3_Missense_Mutation_p.V251I|GABRR1_ENST00000454853.2_Missense_Mutation_p.V338I	p.V321I	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.00917)	8	1415	-		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)	338					A1L401|B4DJK8|B4DQT5|B7ZBQ7|Q9BX06	Missense_Mutation	SNP	ENST00000454853.2	37	c.961G>A	CCDS5019.2	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	10.49	1.365216	0.24684	.	.	ENSG00000146276	ENST00000454853;ENST00000435811;ENST00000369451;ENST00000436331	D;D;D	0.85773	-2.03;-2.03;-2.03	5.25	5.25	0.73442	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.90827	0.7119	M	0.73598	2.24	0.54753	D	0.99998	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.984	D	0.90139	0.4212	9	.	.	.	-17.4466	18.8726	0.92322	0.0:1.0:0.0:0.0	.	321;338	P24046-2;P24046	.;GBRR1_HUMAN	I	338;321;251;251	ENSP00000412673:V338I;ENSP00000394687:V321I;ENSP00000358463:V251I	.	V	-	1	0	GABRR1	89946864	1.000000	0.71417	0.827000	0.32855	0.388000	0.30384	6.089000	0.71384	2.435000	0.82474	0.557000	0.71058	GTC		0.537	GABRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041479.2			18	31	0	0	0	1	0	18	31				
PRPF8	10594	broad.mit.edu	37	17	1576707	1576707	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr17:1576707G>A	ENST00000572621.1	-	22	3866	c.3601C>T	c.(3601-3603)Cgc>Tgc	p.R1201C	PRPF8_ENST00000304992.6_Missense_Mutation_p.R1201C			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1201	Reverse transcriptase homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TAGCTGGTGCGGCACTTAGGC	0.577																																						ENST00000572621.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(3601-3603)Cgc>Tgc		pre-mRNA processing factor 8							117.0	96.0	103.0					17																	1576707		2203	4300	6503	SO:0001583	missense	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1576707G>A	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.3601C>T	17.37:g.1576707G>A	ENSP00000460348:p.Arg1201Cys					PRPF8_ENST00000304992.6_Missense_Mutation_p.R1201C	p.R1201C			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	22	3866	-			1201					O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.3601C>T	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	G	31	5.098856	0.94197	.	.	ENSG00000174231	ENST00000304992	D	0.83506	-1.73	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.93377	0.7888	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.70716	0.97	D	0.93726	0.7037	10	0.87932	D	0	-13.3679	20.6243	0.99512	0.0:0.0:1.0:0.0	.	1201	Q6P2Q9	PRP8_HUMAN	C	1201	ENSP00000304350:R1201C	ENSP00000304350:R1201C	R	-	1	0	PRPF8	1523457	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	9.864000	0.99589	2.879000	0.98667	0.650000	0.86243	CGC		0.577	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			11	38	0	0	0	1	0	11	38				
LVRN	206338	broad.mit.edu	37	5	115319115	115319115	+	Missense_Mutation	SNP	T	T	C	rs369192779		TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr5:115319115T>C	ENST00000357872.4	+	2	951	c.827T>C	c.(826-828)aTg>aCg	p.M276T	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		276						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)										CTTTCCAACATGCCAAAGCTA	0.368																																						ENST00000357872.4																			0											c.(826-828)aTg>aCg				T	THR/MET	1,4403	2.1+/-5.4	0,1,2201	102.0	103.0	103.0		827	5.5	1.0	5		103	0,8600		0,0,4300	no	missense	AQPEP	NM_173800.4	81	0,1,6501	CC,CT,TT		0.0,0.0227,0.0077	probably-damaging	276/991	115319115	1,13003	2202	4300	6502	SO:0001583	missense	0				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding	g.chr5:115319115T>C																												ENST00000357872.4:c.827T>C	5.37:g.115319115T>C	ENSP00000350541:p.Met276Thr					AQPEP_ENST00000395528.2_5'UTR	p.M276T	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN			2	951	+			276					A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Missense_Mutation	SNP	ENST00000357872.4	37	c.827T>C	CCDS4124.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.005601	0.74932	2.27E-4	0.0	ENSG00000172901	ENST00000357872;ENST00000379578	T	0.04758	3.56	5.54	5.54	0.83059	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.20333	0.0489	M	0.72118	2.19	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.00137	-1.2004	10	0.56958	D	0.05	.	14.9544	0.71101	0.0:0.0:0.0:1.0	.	276	Q6Q4G3	AMPQ_HUMAN	T	276;265	ENSP00000350541:M276T	ENSP00000350541:M276T	M	+	2	0	AC010282.1	115347014	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.860000	0.55995	2.234000	0.73211	0.528000	0.53228	ATG		0.368	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1			13	19	0	0	0	1	0	13	19				
PDILT	204474	broad.mit.edu	37	16	20396139	20396139	+	Silent	SNP	C	C	T	rs555849933		TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr16:20396139C>T	ENST00000302451.4	-	3	485	c.237G>A	c.(235-237)gcG>gcA	p.A79A	RP11-429K17.1_ENST00000577173.1_RNA	NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	79					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						CCAGCTCTTCCGCCAAGTTCC	0.483													C|||	1	0.000199681	0.0	0.0	5008	,	,		20245	0.0		0.0	False		,,,				2504	0.001					ENST00000302451.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						c.(235-237)gcG>gcA		protein disulfide isomerase-like, testis expressed							274.0	268.0	270.0					16																	20396139		2203	4300	6503	SO:0001819	synonymous_variant	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20396139C>T		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.237G>A	16.37:g.20396139C>T							p.A79A	NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN			3	485	-			79					Q8IVQ5	Silent	SNP	ENST00000302451.4	37	c.237G>A	CCDS10584.1																																																																																				0.483	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		104	225	0	0	0	1	0	104	225				
GPRIN3	285513	broad.mit.edu	37	4	90170394	90170394	+	Missense_Mutation	SNP	G	G	A	rs187145478		TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr4:90170394G>A	ENST00000609438.1	-	2	1386	c.868C>T	c.(868-870)Cgt>Tgt	p.R290C	GPRIN3_ENST00000333209.4_Missense_Mutation_p.R290C	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	290										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		GACATCTGACGCTGTGCTGGC	0.562													G|||	1	0.000199681	0.0	0.0	5008	,	,		18580	0.001		0.0	False		,,,				2504	0.0					ENST00000333209.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36						c.(868-870)Cgt>Tgt		GPRIN family member 3							100.0	102.0	101.0					4																	90170394		2203	4300	6503	SO:0001583	missense	285513							g.chr4:90170394G>A	AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.868C>T	4.37:g.90170394G>A	ENSP00000476603:p.Arg290Cys						p.R290C	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)	2	1386	-		Hepatocellular(203;0.114)	290					Q8IVE4	Missense_Mutation	SNP	ENST00000609438.1	37	c.868C>T	CCDS34030.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	11.76	1.736196	0.30774	.	.	ENSG00000185477	ENST00000333209	T	0.10099	2.91	5.55	2.87	0.33458	.	1.201620	0.06521	N	0.739671	T	0.06462	0.0166	N	0.08118	0	0.09310	N	1	P	0.45078	0.85	B	0.40782	0.34	T	0.32241	-0.9914	10	0.39692	T	0.17	0.4432	5.9888	0.19450	0.1648:0.155:0.6802:0.0	.	290	Q6ZVF9	GRIN3_HUMAN	C	290	ENSP00000328672:R290C	ENSP00000328672:R290C	R	-	1	0	GPRIN3	90389417	0.026000	0.19158	0.004000	0.12327	0.005000	0.04900	0.900000	0.28431	0.432000	0.26286	0.655000	0.94253	CGT		0.562	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363540.2	NM_198281		44	92	0	0	0	1	0	44	92				
ELMOD2	255520	broad.mit.edu	37	4	141446584	141446587	+	Start_Codon_Del	DEL	TGTT	TGTT	-			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr4:141446584_141446587delTGTT	ENST00000323570.3	+	0	134_137				ELMOD2_ENST00000511887.2_Start_Codon_Del	NM_153702.3	NP_714913.1	Q8IZ81	ELMD2_HUMAN	ELMO/CED-12 domain containing 2						defense response to virus (GO:0051607)|phagocytosis (GO:0006909)|positive regulation of GTPase activity (GO:0043547)|regulation of defense response to virus (GO:0050688)	cytoskeleton (GO:0005856)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7	all_hematologic(180;0.162)					GAAAAAAAAATGTTTATTTCTTTG	0.324																																						ENST00000323570.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7								ELMO/CED-12 domain containing 2																																				SO:0001582	initiator_codon_variant	255520				phagocytosis|regulation of defense response to virus|response to virus	cytoskeleton	GTPase activator activity	g.chr4:141446584_141446587delTGTT	BX648349	CCDS3752.1	4q31.1	2006-10-24	2006-01-20		ENSG00000179387	ENSG00000179387			28111	protein-coding gene	gene with protein product		610196	"""ELMO domain containing 2"""			16773575	Standard	NM_153702		Approved	MGC10084	uc003iik.3	Q8IZ81	OTTHUMG00000133417		4.37:g.141446584_141446587delTGTT								NM_153702.3	NP_714913.1	Q8IZ81	ELMD2_HUMAN			0	134_137	+	all_hematologic(180;0.162)							B2R712|D3DNZ0	Translation_Start_Site	DEL	ENST00000323570.3	37		CCDS3752.1																																																																																				0.324	ELMOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257277.2	NM_153702		47	122						47	122	---	---	---	---
GS1-124K5.2	0	broad.mit.edu	37	7	65888987	65888987	+	RNA	DEL	C	C	-	rs77289928|rs199834994|rs559767770		TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr7:65888987delC	ENST00000442578.1	-	0	826																											Ctttttttttctttttttttt	0.483																																						ENST00000442578.1																			0																																																			0							g.chr7:65888987delC																													7.37:g.65888987delC														0	826	-									RNA	DEL	ENST00000442578.1	37																																																																																						0.483	GS1-124K5.2-001	KNOWN	basic|readthrough_transcript	processed_transcript	pseudogene	OTTHUMT00000344730.1			4	6						4	6	---	---	---	---
NF1	4763	broad.mit.edu	37	17	29550493	29550497	+	Frame_Shift_Del	DEL	TTAAC	TTAAC	-			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr17:29550493_29550497delTTAAC	ENST00000358273.4	+	16	2136_2140	c.1753_1757delTTAAC	c.(1753-1758)ttaactfs	p.LT585fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.LT585fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	585					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CTGCAAGAAATTAACTAGTCATCAA	0.327			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(4)	p.0?(8)|p.?(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599	GRCh37	CD032129|CD082158|CD982825	NF1	D		c.(1753-1758)tfs		neurofibromin 1																																				SO:0001589	frameshift_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29550493_29550497delTTAAC		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.1753_1757delTTAAC	17.37:g.29550493_29550497delTTAAC	ENSP00000351015:p.Leu585fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Frame_Shift_Del_p.LT585fs	p.LT585fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	16	2136_2140	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	585					O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	ENST00000358273.4	37	c.1753_1757delTTAAC	CCDS42292.1																																																																																				0.327	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		15	47						15	47	---	---	---	---
