#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
GOLGA5	9950	broad.mit.edu	37	14	93264023	93264023	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr14:93264023A>C	ENST00000163416.2	+	2	497	c.241A>C	c.(241-243)Act>Cct	p.T81P	GOLGA5_ENST00000355976.2_Missense_Mutation_p.T81P	NM_005113.2	NP_005104	Q8TBA6	GOGA5_HUMAN	golgin A5	81					Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)	p.T81P(1)		large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		CTTAGCTGGCACTGCAAATGT	0.413			T	RET	papillary thyroid																																	ENST00000163416.2				Dom	yes		14	14q	9950	T	"""golgi autoantigen, golgin subfamily a, 5  (PTC5)"""			E	RET		papillary thyroid		1	Substitution - Missense(1)	p.T81P(1)	prostate(1)	large_intestine(6)|lung(1)|ovary(2)	9						c.(241-243)Act>Cct		golgin A5							112.0	108.0	109.0					14																	93264023		2203	4300	6503	SO:0001583	missense	9950				Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding	g.chr14:93264023A>C	AF085199	CCDS9905.1	14q32.12	2012-05-04	2010-02-12		ENSG00000066455	ENSG00000066455			4428	protein-coding gene	gene with protein product	"""golgi integral membrane protein 5"""	606918	"""golgi autoantigen, golgin subfamily a, 5"""			2734021, 9443391, 15004235	Standard	NM_005113		Approved	ret-II, golgin-84, rfg5, GOLIM5	uc001yaz.1	Q8TBA6	OTTHUMG00000171217	ENST00000163416.2:c.241A>C	14.37:g.93264023A>C	ENSP00000163416:p.Thr81Pro					GOLGA5_ENST00000355976.2_Missense_Mutation_p.T81P	p.T81P	NM_005113.2	NP_005104.2	Q8TBA6	GOGA5_HUMAN		COAD - Colon adenocarcinoma(157;0.222)	2	497	+		all_cancers(154;0.0934)	81					C9JRU1|O95287|Q03962|Q2TS49|Q9UQQ7	Missense_Mutation	SNP	ENST00000163416.2	37	c.241A>C	CCDS9905.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.404860	0.83230	.	.	ENSG00000066455	ENST00000163416;ENST00000355976	T;T	0.38401	1.14;1.14	5.65	5.65	0.86999	.	0.000000	0.50627	D	0.000113	T	0.52338	0.1728	M	0.67953	2.075	0.80722	D	1	D	0.61697	0.99	P	0.54815	0.761	T	0.55661	-0.8106	10	0.62326	D	0.03	-21.4466	16.1778	0.81874	1.0:0.0:0.0:0.0	.	81	Q8TBA6	GOGA5_HUMAN	P	81	ENSP00000163416:T81P;ENSP00000348252:T81P	ENSP00000163416:T81P	T	+	1	0	GOLGA5	92333776	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	6.214000	0.72200	2.279000	0.76181	0.533000	0.62120	ACT		0.413	GOLGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412365.1			10	175	0	0	0	1	0	10	175				
MYH2	4620	broad.mit.edu	37	17	10430104	10430104	+	Silent	SNP	G	G	A			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr17:10430104G>A	ENST00000245503.5	-	30	4383	c.3999C>T	c.(3997-3999)aaC>aaT	p.N1333N	MYH2_ENST00000397183.2_Silent_p.N1333N|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1333					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.N1333N(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCGCCAGGGCGTTCTTGGCCT	0.498																																						ENST00000245503.5																			1	Substitution - coding silent(1)	p.N1333N(1)	prostate(1)	NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(3997-3999)aaC>aaT		myosin, heavy chain 2, skeletal muscle, adult							80.0	78.0	79.0					17																	10430104		2203	4300	6503	SO:0001819	synonymous_variant	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10430104G>A		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.3999C>T	17.37:g.10430104G>A						CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Intron|MYH2_ENST00000397183.2_Silent_p.N1333N	p.N1333N	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			30	4383	-			1333					A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	ENST00000245503.5	37	c.3999C>T	CCDS11156.1																																																																																				0.498	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		5	151	0	0	0	1	0	5	151				
HMCN1	83872	broad.mit.edu	37	1	186094769	186094769	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr1:186094769A>G	ENST00000271588.4	+	82	12762	c.12533A>G	c.(12532-12534)tAc>tGc	p.Y4178C	HMCN1_ENST00000367492.2_Missense_Mutation_p.Y4178C	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4178	Ig-like C2-type 41.				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)	p.Y4178C(1)		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						GAAGGACACTACACGGTCAAT	0.388																																						ENST00000271588.4																			1	Substitution - Missense(1)	p.Y4178C(1)	prostate(1)	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.(12532-12534)tAc>tGc		hemicentin 1							85.0	85.0	85.0					1																	186094769		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186094769A>G	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.12533A>G	1.37:g.186094769A>G	ENSP00000271588:p.Tyr4178Cys					HMCN1_ENST00000367492.2_Missense_Mutation_p.Y4178C	p.Y4178C	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			82	12762	+			4178			Ig-like C2-type 41.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.12533A>G	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	A	16.61	3.170264	0.57584	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.66995	-0.24;-0.24	5.04	3.89	0.44902	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.201533	0.41294	D	0.000907	T	0.65668	0.2713	L	0.28192	0.835	0.27006	N	0.96481	D	0.71674	0.998	D	0.64506	0.926	T	0.56329	-0.7997	10	0.37606	T	0.19	.	7.7084	0.28663	0.7168:0.1448:0.0:0.1384	.	4178	Q96RW7	HMCN1_HUMAN	C	4178	ENSP00000271588:Y4178C;ENSP00000356462:Y4178C	ENSP00000271588:Y4178C	Y	+	2	0	HMCN1	184361392	1.000000	0.71417	0.973000	0.42090	0.967000	0.64934	2.944000	0.49034	0.827000	0.34685	0.528000	0.53228	TAC		0.388	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		5	98	0	0	0	1	0	5	98				
KIAA0556	23247	broad.mit.edu	37	16	27782957	27782957	+	Silent	SNP	G	G	A	rs202124589		TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr16:27782957G>A	ENST00000261588.4	+	22	4201	c.4182G>A	c.(4180-4182)ccG>ccA	p.P1394P		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1394						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.P1394P(4)		breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						ACGAGGCACCGCTGATGCCCT	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		18869	0.001		0.0	False		,,,				2504	0.0					ENST00000261588.4																			4	Substitution - coding silent(4)	p.P1394P(4)	large_intestine(2)|prostate(2)	breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						c.(4180-4182)ccG>ccA		KIAA0556							161.0	126.0	138.0					16																	27782957		2197	4300	6497	SO:0001819	synonymous_variant	23247							g.chr16:27782957G>A	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.4182G>A	16.37:g.27782957G>A							p.P1394P	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN			22	4201	+			1394					A7E2C2	Silent	SNP	ENST00000261588.4	37	c.4182G>A	CCDS32415.1																																																																																				0.607	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		7	134	0	0	0	1	0	7	134				
NCKAP5	344148	broad.mit.edu	37	2	133540002	133540002	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr2:133540002G>A	ENST00000409261.1	-	14	4755	c.4382C>T	c.(4381-4383)gCt>gTt	p.A1461V	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.A1461V|NCKAP5_ENST00000473859.1_5'Flank	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1461								p.A1461V(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TGAACTCACAGCATCAGTCGC	0.502																																						ENST00000409261.1																			1	Substitution - Missense(1)	p.A1461V(1)	prostate(1)	NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						c.(4381-4383)gCt>gTt		NCK-associated protein 5							56.0	55.0	55.0					2																	133540002		1919	4119	6038	SO:0001583	missense	344148						protein binding	g.chr2:133540002G>A	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.4382C>T	2.37:g.133540002G>A	ENSP00000387128:p.Ala1461Val					NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.A1461V	p.A1461V	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN			14	4755	-			1461					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.4382C>T	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	G	0.100	-1.153672	0.01700	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.09538	2.97;2.97	5.5	-0.0545	0.13813	.	1.109510	0.07254	N	0.866385	T	0.03783	0.0107	N	0.03608	-0.345	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.45483	-0.9258	10	0.13108	T	0.6	.	3.2344	0.06760	0.4019:0.0:0.2672:0.3309	.	1461	O14513	NCKP5_HUMAN	V	1461	ENSP00000387128:A1461V;ENSP00000380603:A1461V	ENSP00000380603:A1461V	A	-	2	0	NCKAP5	133256472	0.001000	0.12720	0.002000	0.10522	0.304000	0.27724	0.899000	0.28417	0.101000	0.17610	0.655000	0.94253	GCT		0.502	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		19	68	0	0	0	1	0	19	68				
CCNA1	8900	broad.mit.edu	37	13	37006834	37006834	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr13:37006834G>A	ENST00000255465.4	+	1	340	c.76G>A	c.(76-78)Gaa>Aaa	p.E26K	CCNA1_ENST00000449823.1_Intron|CCNA1_ENST00000440264.1_Intron|CCNA1_ENST00000463403.1_Intron|CCNA1_ENST00000418263.1_Missense_Mutation_p.E26K			P78396	CCNA1_HUMAN	cyclin A1	26					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|male meiosis I (GO:0007141)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)		p.E26K(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		TCTCAGCTGGGAAGGACCGGG	0.552																																						ENST00000418263.1																			1	Substitution - Missense(1)	p.E26K(1)	prostate(1)	breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35						c.(76-78)Gaa>Aaa		cyclin A1							49.0	51.0	50.0					13																	37006834		2203	4300	6503	SO:0001583	missense	8900				cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding	g.chr13:37006834G>A	U66838	CCDS9357.1, CCDS45031.1	13q12.3-q13	2014-01-21			ENSG00000133101	ENSG00000133101			1577	protein-coding gene	gene with protein product		604036				9041194	Standard	NM_003914		Approved	CT146	uc001uvr.4	P78396	OTTHUMG00000016733	ENST00000255465.4:c.76G>A	13.37:g.37006834G>A	ENSP00000255465:p.Glu26Lys					CCNA1_ENST00000449823.1_Intron|CCNA1_ENST00000440264.1_Intron|CCNA1_ENST00000463403.1_Intron|CCNA1_ENST00000255465.4_Missense_Mutation_p.E26K	p.E26K	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)	1	426	+		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	26					B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Missense_Mutation	SNP	ENST00000255465.4	37	c.76G>A	CCDS9357.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.741877	0.30865	.	.	ENSG00000133101	ENST00000418263;ENST00000255465	T;T	0.17370	2.28;2.29	3.31	1.49	0.22878	.	.	.	.	.	T	0.07863	0.0197	N	0.08118	0	0.09310	N	1	B;B	0.19200	0.034;0.02	B;B	0.16722	0.016;0.004	T	0.33752	-0.9856	9	0.42905	T	0.14	.	4.4874	0.11797	0.1328:0.2319:0.6353:0.0	.	26;26	P78396-2;P78396	.;CCNA1_HUMAN	K	26	ENSP00000396479:E26K;ENSP00000255465:E26K	ENSP00000255465:E26K	E	+	1	0	CCNA1	35904834	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.170000	0.09897	0.209000	0.20645	0.561000	0.74099	GAA		0.552	CCNA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044514.2	NM_003914		11	41	0	0	0	1	0	11	41				
GLTSCR1L	23506	broad.mit.edu	37	6	42832484	42832484	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr6:42832484G>A	ENST00000314073.5	+	13	2716	c.2540G>A	c.(2539-2541)aGt>aAt	p.S847N	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.S847N			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	847																	CAGCATGGCAGTAAAGCAAGC	0.507																																						ENST00000314073.5																			0											c.(2539-2541)aGt>aAt		GLTSCR1-like							123.0	104.0	110.0					6																	42832484		2203	4300	6503	SO:0001583	missense	23506							g.chr6:42832484G>A	AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"""KIAA0240"""	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.2540G>A	6.37:g.42832484G>A	ENSP00000313933:p.Ser847Asn					GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.S847N	p.S847N							13	2716	+								A1L3W2|Q5TFZ3|Q92514	Missense_Mutation	SNP	ENST00000314073.5	37	c.2540G>A	CCDS34451.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.615088	0.46631	.	.	ENSG00000112624	ENST00000394167;ENST00000314073;ENST00000394168	T;T	0.52526	0.66;0.66	5.07	5.07	0.68467	.	0.301561	0.33553	N	0.004781	T	0.27489	0.0675	L	0.29908	0.895	0.43103	D	0.994791	B	0.06786	0.001	B	0.09377	0.004	T	0.10132	-1.0643	10	0.62326	D	0.03	-0.2986	18.8118	0.92061	0.0:0.0:1.0:0.0	.	847	Q6AI39	K0240_HUMAN	N	847	ENSP00000313933:S847N;ENSP00000377723:S847N	ENSP00000313933:S847N	S	+	2	0	KIAA0240	42940462	1.000000	0.71417	0.830000	0.32933	0.917000	0.54804	3.912000	0.56386	2.476000	0.83614	0.655000	0.94253	AGT		0.507	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040562.3	NM_015349		3	149	0	0	0	1	0	3	149				
BANF2	140836	broad.mit.edu	37	20	17705710	17705710	+	Missense_Mutation	SNP	G	G	A	rs375278663		TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr20:17705710G>A	ENST00000246090.5	+	3	302	c.40G>A	c.(40-42)Gaa>Aaa	p.E14K	BANF2_ENST00000377805.3_Missense_Mutation_p.E14K|BANF2_ENST00000545418.2_Missense_Mutation_p.E21K	NM_178477.4	NP_848572.3	Q9H503	BAFL_HUMAN	barrier to autointegration factor 2	14						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E14K(1)		large_intestine(1)|lung(1)|prostate(3)|skin(1)	6						CTTCCTCTCCGAACCCATTGG	0.502																																						ENST00000246090.5																			1	Substitution - Missense(1)	p.E14K(1)	prostate(1)	large_intestine(1)|lung(1)|prostate(3)|skin(1)	6						c.(40-42)Gaa>Aaa		barrier to autointegration factor 2							157.0	139.0	145.0					20																	17705710		2203	4300	6503	SO:0001583	missense	140836					cytoplasm|nucleus	DNA binding	g.chr20:17705710G>A	BC054871	CCDS13129.1, CCDS54449.1	20p12.1	2007-12-17	2007-12-17	2007-12-17	ENSG00000125888	ENSG00000125888			16172	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 179"""	C20orf179			Standard	NM_178477		Approved	dJ803K15.1, BAF-L, BAFL, BAF2	uc010zrs.1	Q9H503	OTTHUMG00000031949	ENST00000246090.5:c.40G>A	20.37:g.17705710G>A	ENSP00000246090:p.Glu14Lys					BANF2_ENST00000377805.3_Missense_Mutation_p.E14K|BANF2_ENST00000545418.2_Missense_Mutation_p.E21K	p.E14K	NM_178477.4	NP_848572.3	Q9H503	BAFL_HUMAN			3	302	+			14					D3DW25|F5H3F6|Q7Z4M6	Missense_Mutation	SNP	ENST00000246090.5	37	c.40G>A	CCDS13129.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.944015	0.73672	.	.	ENSG00000125888	ENST00000545418;ENST00000427254;ENST00000377805;ENST00000246090	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	5.05	4.01	0.46588	.	0.000000	0.64402	D	0.000009	T	0.75583	0.3869	.	.	.	0.37140	D	0.901685	D;D	0.89917	1.0;1.0	D;D	0.72338	0.962;0.977	T	0.80412	-0.1393	9	0.87932	D	0	.	10.7237	0.46055	0.0:0.1928:0.8072:0.0	.	21;14	F5H3F6;Q9H503	.;BAFL_HUMAN	K	21;14;14;14	ENSP00000439128:E21K;ENSP00000398738:E14K;ENSP00000367036:E14K;ENSP00000246090:E14K	ENSP00000246090:E14K	E	+	1	0	BANF2	17653710	0.994000	0.37717	0.989000	0.46669	0.467000	0.32768	2.760000	0.47581	2.704000	0.92352	0.655000	0.94253	GAA		0.502	BANF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102261.2	NM_178477		42	161	0	0	0	1	0	42	161				
TXNDC11	51061	broad.mit.edu	37	16	11785489	11785489	+	Silent	SNP	G	G	A			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr16:11785489G>A	ENST00000356957.3	-	9	1745	c.1638C>T	c.(1636-1638)ttC>ttT	p.F546F	TXNDC11_ENST00000570917.1_5'Flank|TXNDC11_ENST00000283033.5_Silent_p.F519F			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	546					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)	p.F519F(1)		endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						CAGAGTCGATGAAGCCTGACA	0.468																																						ENST00000356957.3																			1	Substitution - coding silent(1)	p.F519F(1)	prostate(1)	endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(1636-1638)ttC>ttT		thioredoxin domain containing 11							122.0	112.0	115.0					16																	11785489		2197	4300	6497	SO:0001819	synonymous_variant	51061				cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane		g.chr16:11785489G>A	BC013727	CCDS32387.1	16p13.13	2008-09-29				ENSG00000153066			28030	protein-coding gene	gene with protein product	"""EF-hand binding protein 1"""					8619474, 9110174	Standard	XM_005255346		Approved	EFP1	uc002dbg.1	Q6PKC3		ENST00000356957.3:c.1638C>T	16.37:g.11785489G>A						TXNDC11_ENST00000283033.5_Silent_p.F519F	p.F546F			Q6PKC3	TXD11_HUMAN			9	1745	-			546					O95887|Q6PJA6|Q8N2Q4|Q96K45|Q96K53	Silent	SNP	ENST00000356957.3	37	c.1638C>T																																																																																					0.468	TXNDC11-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000437057.1	NM_015914		98	205	0	0	0	1	0	98	205				
CHRD	8646	broad.mit.edu	37	3	184104857	184104857	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr3:184104857A>G	ENST00000204604.1	+	18	2555	c.2309A>G	c.(2308-2310)gAc>gGc	p.D770G	CHRD_ENST00000450923.1_Missense_Mutation_p.D770G|CHRD_ENST00000545352.1_Missense_Mutation_p.D312G|CHRD_ENST00000348986.3_Missense_Mutation_p.D730G|EIF2B5_ENST00000444495.1_Intron	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	770					BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)	p.D770G(1)|p.D483G(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GATGTCAGAGACTTGCCAGGG	0.592																																						ENST00000204604.1																			2	Substitution - Missense(2)	p.D770G(1)|p.D483G(1)	prostate(2)	NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(2308-2310)gAc>gGc		chordin							46.0	56.0	53.0					3																	184104857		2203	4300	6503	SO:0001583	missense	8646				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding	g.chr3:184104857A>G	AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.2309A>G	3.37:g.184104857A>G	ENSP00000204604:p.Asp770Gly					CHRD_ENST00000348986.3_Missense_Mutation_p.D730G|CHRD_ENST00000545352.1_Missense_Mutation_p.D312G|CHRD_ENST00000450923.1_Missense_Mutation_p.D770G|EIF2B5_ENST00000444495.1_Intron	p.D770G	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		18	2555	+	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		770					O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Missense_Mutation	SNP	ENST00000204604.1	37	c.2309A>G	CCDS3266.1	.	.	.	.	.	.	.	.	.	.	A	14.26	2.482541	0.44147	.	.	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986;ENST00000545352;ENST00000342610	T;T;T;T	0.46451	2.63;2.41;2.41;0.87	4.87	3.62	0.41486	.	0.166180	0.51477	D	0.000085	T	0.31263	0.0791	L	0.41710	1.295	0.26493	N	0.974909	B;B;B;B	0.33940	0.004;0.433;0.001;0.306	B;B;B;B	0.36845	0.005;0.234;0.011;0.118	T	0.11421	-1.0588	10	0.25106	T	0.35	-15.7703	7.4025	0.26973	0.8064:0.0:0.0:0.1936	.	312;730;770;770	B7Z6F4;Q9H2X0-5;E7ESX1;Q9H2X0	.;.;.;CHRD_HUMAN	G	770;770;730;312;483	ENSP00000204604:D770G;ENSP00000408972:D770G;ENSP00000334036:D730G;ENSP00000442948:D312G	ENSP00000204604:D770G	D	+	2	0	CHRD	185587551	0.988000	0.35896	0.596000	0.28811	0.937000	0.57800	3.176000	0.50863	1.956000	0.56807	0.460000	0.39030	GAC		0.592	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1	NM_003741		20	78	0	0	0	1	0	20	78				
ZC3HAV1	56829	broad.mit.edu	37	7	138764546	138764546	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr7:138764546G>C	ENST00000242351.5	-	4	1457	c.1141C>G	c.(1141-1143)Cta>Gta	p.L381V	ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.L381V|ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.L381V	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	381					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)	p.L381V(1)		cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						GCGGCAGGTAGCGTGGGAGAA	0.532																																						ENST00000242351.5																			1	Substitution - Missense(1)	p.L381V(1)	prostate(1)	cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						c.(1141-1143)Cta>Gta		zinc finger CCCH-type, antiviral 1							116.0	117.0	116.0					7																	138764546		2203	4300	6503	SO:0001583	missense	56829				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding	g.chr7:138764546G>C	BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	23721	protein-coding gene	gene with protein product	"""zinc finger antiviral protein"", "" CCCH-type zinc finger antiviral protein"""	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.1141C>G	7.37:g.138764546G>C	ENSP00000242351:p.Leu381Val					ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.L381V|ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.L381V	p.L381V	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN			4	1457	-			381					A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Missense_Mutation	SNP	ENST00000242351.5	37	c.1141C>G	CCDS5851.1	.	.	.	.	.	.	.	.	.	.	G	5.579	0.291698	0.10567	.	.	ENSG00000105939	ENST00000242351;ENST00000464606;ENST00000471652;ENST00000540247	T;T;T	0.17691	3.3;3.25;2.26	4.65	0.272	0.15645	.	2.458410	0.01766	N	0.030858	T	0.11196	0.0273	N	0.14661	0.345	0.09310	N	1	B;B	0.29805	0.257;0.137	B;B	0.29077	0.098;0.043	T	0.25502	-1.0130	10	0.29301	T	0.29	.	7.0117	0.24865	0.0:0.3186:0.3548:0.3266	.	381;381	Q7Z2W4-2;Q7Z2W4	.;ZCCHV_HUMAN	V	381;381;381;141	ENSP00000242351:L381V;ENSP00000418385:L381V;ENSP00000419855:L381V	ENSP00000242351:L381V	L	-	1	2	ZC3HAV1	138415086	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.125000	0.15749	0.224000	0.20940	0.655000	0.94253	CTA		0.532	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348915.1	NM_020119		68	201	0	0	0	1	0	68	201				
GIMAP1	170575	broad.mit.edu	37	7	150417468	150417468	+	Missense_Mutation	SNP	G	G	T	rs374968861		TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr7:150417468G>T	ENST00000307194.5	+	3	516	c.376G>T	c.(376-378)Gcc>Tcc	p.A126S		NM_130759.3	NP_570115.1	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	126	AIG1-type G.				B cell differentiation (GO:0030183)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)	p.A126T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCGGTTCACCGCCCAGGACCA	0.637																																						ENST00000307194.5																			1	Substitution - Missense(1)	p.A126T(1)	large_intestine(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28						c.(376-378)Gcc>Tcc		GTPase, IMAP family member 1							46.0	45.0	45.0					7																	150417468		2203	4300	6503	SO:0001583	missense	170575							g.chr7:150417468G>T	AJ306287	CCDS5906.1	7q36.1	2014-04-04			ENSG00000213203	ENSG00000213203		"""GTPases, IMAP"""	23237	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 2"""	608084				15474311, 18701445	Standard	NM_130759		Approved	HIMAP1, IMAP38, IMAP1, IAN2		Q8WWP7	OTTHUMG00000157489	ENST00000307194.5:c.376G>T	7.37:g.150417468G>T	ENSP00000302833:p.Ala126Ser						p.A126S	NM_130759.3	NP_570115.1			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	516	+								B2RCI3|Q8NAZ0	Missense_Mutation	SNP	ENST00000307194.5	37	c.376G>T	CCDS5906.1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.640287	0.29157	.	.	ENSG00000213203	ENST00000307194	T	0.61274	0.12	4.72	-4.65	0.03339	AIG1 (1);	3.346840	0.01980	U	0.044724	T	0.47637	0.1456	L	0.41961	1.31	0.09310	N	1	B	0.12013	0.005	B	0.27500	0.08	T	0.24799	-1.0150	10	0.25751	T	0.34	.	6.2026	0.20585	0.5487:0.2703:0.1809:0.0	.	126	Q8WWP7	GIMA1_HUMAN	S	126	ENSP00000302833:A126S	ENSP00000302833:A126S	A	+	1	0	GIMAP1	150048401	0.000000	0.05858	0.001000	0.08648	0.627000	0.37826	-0.026000	0.12392	-0.826000	0.04284	-0.751000	0.03497	GCC		0.637	GIMAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348951.2	NM_130759		3	81	1	0	0.115264	1	0.123616	3	81				
PANK1	53354	broad.mit.edu	37	10	91359112	91359112	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr10:91359112A>T	ENST00000307534.4	-	3	1362	c.1207T>A	c.(1207-1209)Tgc>Agc	p.C403S	PANK1_ENST00000371774.2_Missense_Mutation_p.C205S|PANK1_ENST00000342512.3_Missense_Mutation_p.C178S|PANK1_ENST00000322191.6_Missense_Mutation_p.C178S	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	403					coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell periphery (GO:0071944)|clathrin coat (GO:0030118)|cytosol (GO:0005829)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)	p.C403S(1)		cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11						TTATCAAGGCAGTACGGCTTT	0.448																																						ENST00000307534.4																			1	Substitution - Missense(1)	p.C403S(1)	prostate(1)	cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11						c.(1207-1209)Tgc>Agc		pantothenate kinase 1	Bezafibrate(DB01393)						237.0	214.0	222.0					10																	91359112		2203	4300	6503	SO:0001583	missense	53354				coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity	g.chr10:91359112A>T	AF355198	CCDS7405.1, CCDS7406.1, CCDS31244.1	10q23.31	2008-05-14	2002-11-13	2002-11-15	ENSG00000152782	ENSG00000152782			8598	protein-coding gene	gene with protein product		606160	"""pantothenate kinase"""	PANK		11809413	Standard	NM_148977		Approved	MGC24596, PANK1a, PANK1b	uc001kgp.2	Q8TE04	OTTHUMG00000018718	ENST00000307534.4:c.1207T>A	10.37:g.91359112A>T	ENSP00000302108:p.Cys403Ser					PANK1_ENST00000342512.3_Missense_Mutation_p.C178S|PANK1_ENST00000371774.2_Missense_Mutation_p.C205S|PANK1_ENST00000322191.6_Missense_Mutation_p.C178S	p.C403S	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN			3	1362	-			403					A6NIP0|Q7RTX6|Q7Z495|Q8TBQ8	Missense_Mutation	SNP	ENST00000307534.4	37	c.1207T>A	CCDS31244.1	.	.	.	.	.	.	.	.	.	.	A	8.051	0.766013	0.15983	.	.	ENSG00000152782	ENST00000342512;ENST00000322191;ENST00000371774;ENST00000307534;ENST00000371775	D;D;D;D	0.99454	-5.92;-5.92;-5.92;-5.92	6.02	4.85	0.62838	.	0.152504	0.64402	D	0.000016	D	0.95541	0.8551	N	0.03608	-0.345	0.42059	D	0.991156	B;B;B;B	0.31655	0.0;0.334;0.0;0.0	B;B;B;B	0.24848	0.0;0.056;0.001;0.0	D	0.95499	0.8576	10	0.09338	T	0.73	.	12.4549	0.55697	0.8744:0.0:0.0:0.1256	.	205;403;178;178	Q8TE04-4;Q8TE04;Q8TE04-3;Q8TE04-2	.;PANK1_HUMAN;.;.	S	178;178;205;403;266	ENSP00000345118:C178S;ENSP00000318526:C178S;ENSP00000360839:C205S;ENSP00000302108:C403S	ENSP00000302108:C403S	C	-	1	0	PANK1	91349092	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	3.242000	0.51384	1.042000	0.40150	0.528000	0.53228	TGC		0.448	PANK1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				38	338	0	0	0	1	0	38	338				
PRDM7	11105	broad.mit.edu	37	16	90161168	90161168	+	5'Flank	SNP	T	T	G	rs8055740|rs371109645	byFrequency	TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr16:90161168T>G	ENST00000569206.1	-	0	0				TUBB8P7_ENST00000567960.1_RNA|TUBB8P7_ENST00000564451.1_RNA			Q9NQW5	PRDM7_HUMAN	PR domain containing 7						regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleic acid binding (GO:0003676)			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CCTCCTGTCCTCCGAGTCGAG	0.622													.|||	781	0.15595	0.2186	0.1527	5008	,	,		2545	0.003		0.2684	False		,,,				2504	0.1155					ENST00000567960.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr16:90161168T>G	AF274347	CCDS45557.1	16q24.3	2013-01-09			ENSG00000126856	ENSG00000126856		"""Zinc fingers, C2H2-type"", ""-"""	9351	protein-coding gene	gene with protein product		609759				17916234	Standard	NM_001098173		Approved	ZNF910	uc010cje.3	Q9NQW5	OTTHUMG00000138990		16.37:g.90161168T>G	Exception_encountered					TUBB8P7_ENST00000564451.1_RNA								0	277	+								A4Q9G8|Q08EM4|Q9NQW4	RNA	SNP	ENST00000569206.1	37																																																																																						0.622	PRDM7-009	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000420855.1			3	7	0	0	0	1	0	3	7				
CENPJ	55835	broad.mit.edu	37	13	25486853	25486853	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr13:25486853T>C	ENST00000381884.4	-	2	496	c.311A>G	c.(310-312)aAg>aGg	p.K104R	CENPJ_ENST00000545981.1_Missense_Mutation_p.K104R	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	104					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		CTGTGGTCCCTTTTTAATGCA	0.438																																						ENST00000381884.4																			0				endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(310-312)aAg>aGg		centromere protein J							184.0	169.0	174.0					13																	25486853		2203	4300	6503	SO:0001583	missense	55835				cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding	g.chr13:25486853T>C	AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"""centrosomal P4.1-associated protein"""	609279	"""microcephaly, primary autosomal recessive 6"""	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.311A>G	13.37:g.25486853T>C	ENSP00000371308:p.Lys104Arg					CENPJ_ENST00000545981.1_Missense_Mutation_p.K104R	p.K104R	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)	2	496	-		Lung SC(185;0.0225)|Breast(139;0.0602)	104					Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Missense_Mutation	SNP	ENST00000381884.4	37	c.311A>G	CCDS9310.1	.	.	.	.	.	.	.	.	.	.	T	3.034	-0.199094	0.06219	.	.	ENSG00000151849	ENST00000381884;ENST00000545981;ENST00000445729	T;T	0.18810	2.19;2.19	5.63	-0.0823	0.13698	.	1.383910	0.04132	N	0.318094	T	0.14917	0.0360	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.26155	-1.0111	10	0.26408	T	0.33	.	5.158	0.15046	0.0:0.1578:0.2869:0.5553	.	104	Q9HC77	CENPJ_HUMAN	R	104	ENSP00000371308:K104R;ENSP00000441090:K104R	ENSP00000371308:K104R	K	-	2	0	CENPJ	24384853	0.000000	0.05858	0.001000	0.08648	0.030000	0.12068	-0.053000	0.11846	0.066000	0.16515	0.533000	0.62120	AAG		0.438	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	NM_018451		5	306	0	0	0	1	0	5	306				
ZNF728	388523	broad.mit.edu	37	19	23159308	23159308	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr19:23159308A>T	ENST00000594710.1	-	4	976	c.831T>A	c.(829-831)agT>agA	p.S277R		NM_001267716.1	NP_001254645.1	P0DKX0	ZN728_HUMAN	zinc finger protein 728	277					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)										CTCCAGCATGACTTCTCTTAT	0.418																																						ENST00000594710.1																			0											c.(829-831)agT>agA		zinc finger protein 728																																				SO:0001583	missense	388523							g.chr19:23159308A>T	BC128130	CCDS59370.1	19p12	2014-02-14			ENSG00000269067	ENSG00000269067		"""Zinc fingers, C2H2-type"", ""-"""	32463	protein-coding gene	gene with protein product							Standard	NM_001267716		Approved		uc002nqz.2	P0DKX0	OTTHUMG00000183124	ENST00000594710.1:c.831T>A	19.37:g.23159308A>T	ENSP00000471593:p.Ser277Arg						p.S277R	NM_001267716.1	NP_001254645.1					4	976	-									Missense_Mutation	SNP	ENST00000594710.1	37	c.831T>A	CCDS59370.1																																																																																				0.418	ZNF728-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465176.1	NM_001267716		4	131	0	0	0	1	0	4	131				
WNK4	65266	broad.mit.edu	37	17	40934857	40934857	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr17:40934857G>A	ENST00000246914.5	+	2	721	c.700G>A	c.(700-702)Gtc>Atc	p.V234I		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	234	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)	p.V234I(2)|p.V222I(1)		NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CCCCAACATCGTCCGCTTCTA	0.602																																					Esophageal Squamous(6;201 374 4964 23855 42828)	ENST00000246914.5																			3	Substitution - Missense(3)	p.V234I(2)|p.V222I(1)	prostate(3)	NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35						c.(700-702)Gtc>Atc		WNK lysine deficient protein kinase 4							105.0	91.0	96.0					17																	40934857		2203	4300	6503	SO:0001583	missense	65266				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	g.chr17:40934857G>A	AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"""protein kinase, lysine deficient 4"""	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.700G>A	17.37:g.40934857G>A	ENSP00000246914:p.Val234Ile						p.V234I	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	2	721	+		Breast(137;0.000143)	234			Protein kinase.		B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Missense_Mutation	SNP	ENST00000246914.5	37	c.700G>A	CCDS11439.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.042143	0.93685	.	.	ENSG00000126562	ENST00000246914	T	0.35421	1.31	3.97	3.97	0.46021	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.390131	0.18502	N	0.139314	T	0.48857	0.1523	L	0.33485	1.01	0.42555	D	0.993123	D	0.71674	0.998	D	0.69307	0.963	T	0.54807	-0.8238	10	0.72032	D	0.01	-6.6437	16.2013	0.82084	0.0:0.0:1.0:0.0	.	234	Q96J92	WNK4_HUMAN	I	234	ENSP00000246914:V234I	ENSP00000246914:V234I	V	+	1	0	WNK4	38188383	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.616000	0.98359	2.045000	0.60652	0.462000	0.41574	GTC		0.602	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1			24	60	0	0	0	1	0	24	60				
AHNAK2	113146	broad.mit.edu	37	14	105414189	105414189	+	Silent	SNP	A	A	T	rs533925213	byFrequency	TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr14:105414189A>T	ENST00000333244.5	-	7	7718	c.7599T>A	c.(7597-7599)atT>atA	p.I2533I	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2533						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AAGGGGGCTGAATGCTGAGGT	0.667													.|||	3	0.000599042	0.0008	0.0029	5008	,	,		16754	0.0		0.0	False		,,,				2504	0.0					ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(7597-7599)atT>atA		AHNAK nucleoprotein 2							114.0	128.0	124.0					14																	105414189		1911	4107	6018	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105414189A>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.7599T>A	14.37:g.105414189A>T						AHNAK2_ENST00000557457.1_Intron	p.I2533I	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	7718	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2533					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.7599T>A	CCDS45177.1																																																																																				0.667	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		6	343	0	0	0	1	0	6	343				
CFHR5	81494	broad.mit.edu	37	1	196977769	196977769	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr1:196977769G>A	ENST00000256785.4	+	10	1775	c.1666G>A	c.(1666-1668)Gca>Aca	p.A556T	CFHR5_ENST00000367414.5_Missense_Mutation_p.A580T			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	556	Sushi 9. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						ACCATTTCGAGCAATCTGTCA	0.363																																						ENST00000367414.5																			0				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						c.(1738-1740)Gca>Aca		complement factor H-related 5							113.0	105.0	107.0					1																	196977769		2203	4300	6503	SO:0001583	missense	81494				complement activation, alternative pathway	extracellular region		g.chr1:196977769G>A	AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"""Complement system"""	24668	protein-coding gene	gene with protein product	"""factor H related protein 5"""	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.1666G>A	1.37:g.196977769G>A	ENSP00000256785:p.Ala556Thr					CFHR5_ENST00000256785.4_Missense_Mutation_p.A556T	p.A580T	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN			10	1794	+			556					Q2NKK2	Missense_Mutation	SNP	ENST00000256785.4	37	c.1738G>A	CCDS1387.1	.	.	.	.	.	.	.	.	.	.	G	8.818	0.936874	0.18206	.	.	ENSG00000134389	ENST00000367414;ENST00000256785	D;D	0.82893	-1.66;-1.66	4.62	-1.79	0.07932	Complement control module (1);Sushi/SCR/CCP (1);	.	.	.	.	T	0.63212	0.2492	N	0.16478	0.41	0.09310	N	1	B	0.27971	0.196	B	0.28784	0.094	T	0.50338	-0.8840	9	0.14656	T	0.56	.	4.2478	0.10680	0.4335:0.0:0.4111:0.1554	.	556	Q9BXR6	FHR5_HUMAN	T	580;556	ENSP00000356384:A580T;ENSP00000256785:A556T	ENSP00000256785:A556T	A	+	1	0	CFHR5	195244392	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.711000	0.05019	-0.112000	0.11979	-0.291000	0.09656	GCA		0.363	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088814.2	NM_030787		3	176	0	0	0	1	0	3	176				
TSSK2	23617	broad.mit.edu	37	22	19119550	19119550	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr22:19119550C>A	ENST00000399635.2	+	1	1230	c.638C>A	c.(637-639)tCc>tAc	p.S213Y	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	213	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.S213Y(2)		endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					GTCTGCGGCTCCATGCCCTAT	0.592																																						ENST00000399635.2																			2	Substitution - Missense(2)	p.S213Y(2)	prostate(2)	endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11						c.(637-639)tCc>tAc		testis-specific serine kinase 2							97.0	91.0	93.0					22																	19119550		2203	4300	6503	SO:0001583	missense	23617				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:19119550C>A	AF362953	CCDS13755.1	22q11.21	2007-01-30	2005-03-10	2005-03-12	ENSG00000206203	ENSG00000206203			11401	protein-coding gene	gene with protein product		610710	"""serine/threonine kinase 22B (spermiogenesis associated)"""	STK22B		10591208	Standard	NM_053006		Approved	SPOGA2, FLJ38613	uc002zow.2	Q96PF2	OTTHUMG00000150118	ENST00000399635.2:c.638C>A	22.37:g.19119550C>A	ENSP00000382544:p.Ser213Tyr					DGCR14_ENST00000252137.6_3'UTR	p.S213Y	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN			1	1230	+	Colorectal(54;0.0993)		213			Protein kinase.		Q8IY55	Missense_Mutation	SNP	ENST00000399635.2	37	c.638C>A	CCDS13755.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.126644	0.37533	.	.	ENSG00000206203	ENST00000399635	T	0.66460	-0.21	5.29	4.25	0.50352	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.137828	0.33364	N	0.004995	T	0.43964	0.1271	N	0.02916	-0.46	0.32591	N	0.527201	B	0.17667	0.023	B	0.21546	0.035	T	0.53479	-0.8433	10	0.62326	D	0.03	.	12.9918	0.58622	0.0:0.8373:0.1627:0.0	.	213	Q96PF2	TSSK2_HUMAN	Y	213	ENSP00000382544:S213Y	ENSP00000382544:S213Y	S	+	2	0	TSSK2	17499550	0.003000	0.15002	1.000000	0.80357	0.962000	0.63368	0.393000	0.20817	1.179000	0.42884	0.655000	0.94253	TCC		0.592	TSSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316431.1			87	144	1	0	4.47867e-22	1	5.26066e-22	87	144				
XIRP2	129446	broad.mit.edu	37	2	168106327	168106327	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr2:168106327G>A	ENST00000409195.1	+	9	8514	c.8425G>A	c.(8425-8427)Gga>Aga	p.G2809R	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.G2809R|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.G2587R|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2634					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGAATTTAGCGGATCTGACAG	0.403																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(8425-8427)Gga>Aga		xin actin-binding repeat containing 2							69.0	68.0	68.0					2																	168106327		1854	4096	5950	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168106327G>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.8425G>A	2.37:g.168106327G>A	ENSP00000386840:p.Gly2809Arg					XIRP2_ENST00000295237.9_Missense_Mutation_p.G2809R|XIRP2_ENST00000409273.1_Missense_Mutation_p.G2587R|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron	p.G2809R	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	8514	+			2634					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.8425G>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	2.909	-0.225702	0.06022	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02323	4.34;4.34;4.34	6.02	3.21	0.36854	.	0.737730	0.13531	N	0.380944	T	0.01870	0.0059	N	0.22421	0.69	0.09310	N	1	B;B;B	0.31879	0.233;0.344;0.344	B;B;B	0.22386	0.017;0.039;0.039	T	0.49652	-0.8917	10	0.21014	T	0.42	-2.1874	5.1586	0.15048	0.293:0.1419:0.5652:0.0	.	2634;2634;2587	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	R	2809;2809;2587;223	ENSP00000386840:G2809R;ENSP00000295237:G2809R;ENSP00000387255:G2587R	ENSP00000295237:G2809R	G	+	1	0	XIRP2	167814573	0.077000	0.21312	0.000000	0.03702	0.001000	0.01503	0.738000	0.26158	0.411000	0.25702	0.655000	0.94253	GGA		0.403	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		4	97	0	0	0	1	0	4	97				
TDO2	6999	broad.mit.edu	37	4	156835562	156835562	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr4:156835562C>T	ENST00000536354.2	+	8	878	c.814C>T	c.(814-816)Cgt>Tgt	p.R272C		NM_005651.3	NP_005642.1			tryptophan 2,3-dioxygenase									p.R272C(1)		breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)		TGATGAGAAACGTCATGAACA	0.348																																					Colon(57;928 1036 2595 6946 26094)	ENST00000536354.2																			1	Substitution - Missense(1)	p.R272C(1)	prostate(1)	breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(814-816)Cgt>Tgt		tryptophan 2,3-dioxygenase	L-Tryptophan(DB00150)						110.0	112.0	111.0					4																	156835562		2202	4300	6502	SO:0001583	missense	6999				tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity	g.chr4:156835562C>T		CCDS34086.1	4q31-q32	2008-02-05				ENSG00000151790	1.13.11.11		11708	protein-coding gene	gene with protein product		191070					Standard	NM_005651		Approved	TDO, TPH2	uc003ipf.2	P48775		ENST00000536354.2:c.814C>T	4.37:g.156835562C>T	ENSP00000444788:p.Arg272Cys						p.R272C	NM_005651.3	NP_005642.1	P48775	T23O_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	8	878	+	all_hematologic(180;0.24)	Renal(120;0.0854)	272						Missense_Mutation	SNP	ENST00000536354.2	37	c.814C>T	CCDS34086.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.024566	0.75390	.	.	ENSG00000151790	ENST00000536354	.	.	.	5.66	5.66	0.87406	.	0.046263	0.85682	D	0.000000	T	0.78660	0.4318	M	0.75447	2.3	0.80722	D	1	D	0.71674	0.998	P	0.62740	0.906	T	0.77907	-0.2412	9	0.49607	T	0.09	-17.9098	20.1041	0.97884	0.0:1.0:0.0:0.0	.	272	P48775	T23O_HUMAN	C	272	.	ENSP00000281525:R272C	R	+	1	0	TDO2	157055012	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	4.262000	0.58847	2.826000	0.97356	0.655000	0.94253	CGT		0.348	TDO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366209.3	NM_005651		17	46	0	0	0	1	0	17	46				
PTPRO	5800	broad.mit.edu	37	12	15731856	15731856	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr12:15731856C>T	ENST00000281171.4	+	20	3229	c.2899C>T	c.(2899-2901)Cgt>Tgt	p.R967C	PTPRO_ENST00000544244.1_Missense_Mutation_p.R128C|PTPRO_ENST00000542557.1_Missense_Mutation_p.R128C|PTPRO_ENST00000348962.2_Missense_Mutation_p.R939C|PTPRO_ENST00000445537.2_Missense_Mutation_p.R156C|PTPRO_ENST00000442921.2_Missense_Mutation_p.R156C	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	967	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)	p.R967C(1)		NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				ATGTAAAAACCGTTACACAAA	0.393																																						ENST00000281171.4																			1	Substitution - Missense(1)	p.R967C(1)	prostate(1)	NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74						c.(2899-2901)Cgt>Tgt		protein tyrosine phosphatase, receptor type, O							201.0	178.0	185.0					12																	15731856		2203	4300	6503	SO:0001583	missense	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15731856C>T	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.2899C>T	12.37:g.15731856C>T	ENSP00000281171:p.Arg967Cys					PTPRO_ENST00000442921.2_Missense_Mutation_p.R156C|PTPRO_ENST00000445537.2_Missense_Mutation_p.R156C|PTPRO_ENST00000544244.1_Missense_Mutation_p.R128C|PTPRO_ENST00000348962.2_Missense_Mutation_p.R939C|PTPRO_ENST00000542557.1_Missense_Mutation_p.R128C	p.R967C	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN			20	3229	+		Hepatocellular(102;0.244)	967			Tyrosine-protein phosphatase.		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	37	c.2899C>T	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.505464	0.85282	.	.	ENSG00000151490	ENST00000281171;ENST00000348962;ENST00000442921;ENST00000542557;ENST00000445537;ENST00000544244	T;T;T;T;T;T	0.35789	1.29;1.29;1.29;1.29;1.29;1.29	4.98	4.98	0.66077	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.49305	D	0.000154	T	0.76955	0.4060	H	0.99058	4.415	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.87080	0.2165	10	0.87932	D	0	.	18.4381	0.90653	0.0:1.0:0.0:0.0	.	128;939;967	Q9UBT5;Q16827-2;Q16827	.;.;PTPRO_HUMAN	C	967;939;156;128;156;128	ENSP00000281171:R967C;ENSP00000343434:R939C;ENSP00000404188:R156C;ENSP00000437571:R128C;ENSP00000393449:R156C;ENSP00000439234:R128C	ENSP00000281171:R967C	R	+	1	0	PTPRO	15623123	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.351000	0.59398	2.584000	0.87258	0.650000	0.86243	CGT		0.393	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			21	129	0	0	0	1	0	21	129				
ZNF782	158431	broad.mit.edu	37	9	99580381	99580381	+	Missense_Mutation	SNP	C	C	T	rs566491974		TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr9:99580381C>T	ENST00000481138.1	-	6	2585	c.1924G>A	c.(1924-1926)Ggg>Agg	p.G642R	ZNF782_ENST00000535338.1_Missense_Mutation_p.G510R|ZNF782_ENST00000466833.1_5'Flank	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	642					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G642R(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				GGTTTCTCCCCGGTGTGAGTT	0.433													C|||	1	0.000199681	0.0	0.0	5008	,	,		18270	0.0		0.0	False		,,,				2504	0.001					ENST00000481138.1																			1	Substitution - Missense(1)	p.G642R(1)	prostate(1)	NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33						c.(1924-1926)Ggg>Agg		zinc finger protein 782							115.0	107.0	110.0					9																	99580381		2203	4300	6503	SO:0001583	missense	158431				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:99580381C>T	AK131468	CCDS35075.1	9q22.33	2013-01-08			ENSG00000196597	ENSG00000196597		"""Zinc fingers, C2H2-type"", ""-"""	33110	protein-coding gene	gene with protein product							Standard	NM_001001662		Approved	FLJ16636	uc004awp.1	Q6ZMW2	OTTHUMG00000020310	ENST00000481138.1:c.1924G>A	9.37:g.99580381C>T	ENSP00000419397:p.Gly642Arg					ZNF782_ENST00000535338.1_Missense_Mutation_p.G510R	p.G642R	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN			6	2585	-		Acute lymphoblastic leukemia(62;0.0527)	642					B2RNR0	Missense_Mutation	SNP	ENST00000481138.1	37	c.1924G>A	CCDS35075.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	16.20|16.20	3.054586|3.054586	0.55218|0.55218	.|.	.|.	ENSG00000196597|ENSG00000196597	ENST00000481138;ENST00000535338|ENST00000289032	T;T|.	0.01629|.	4.72;4.72|.	3.06|3.06	2.16|2.16	0.27623|0.27623	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	0.000000|.	0.33438|.	N|.	0.004905|.	T|T	0.51584|0.51584	0.1683|0.1683	M|M	0.66939|0.66939	2.045|2.045	0.28818|0.28818	N|N	0.89787|0.89787	D|.	0.56746|.	0.977|.	P|.	0.45610|.	0.487|.	T|T	0.47509|0.47509	-0.9112|-0.9112	10|5	0.66056|.	D|.	0.02|.	.|.	8.3002|8.3002	0.32010|0.32010	0.0:0.8768:0.0:0.1232|0.0:0.8768:0.0:0.1232	.|.	642|.	Q6ZMW2|.	ZN782_HUMAN|.	R|Q	642;510|630	ENSP00000419397:G642R;ENSP00000440624:G510R|.	ENSP00000419397:G642R|.	G|R	-|-	1|2	0|0	ZNF782|ZNF782	98620202|98620202	0.491000|0.491000	0.26019|0.26019	0.992000|0.992000	0.48379|0.48379	0.686000|0.686000	0.39977|0.39977	3.048000|3.048000	0.49862|0.49862	0.856000|0.856000	0.35383|0.35383	0.655000|0.655000	0.94253|0.94253	GGG|CGG		0.433	ZNF782-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356810.1	NM_001001662		7	233	0	0	0	1	0	7	233				
BCORL1	63035	broad.mit.edu	37	X	129155089	129155089	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chrX:129155089C>A	ENST00000218147.7	+	5	3768	c.3571C>A	c.(3571-3573)Cag>Aag	p.Q1191K	BCORL1_ENST00000303743.5_Missense_Mutation_p.Q1191K|BCORL1_ENST00000540052.1_Missense_Mutation_p.Q1191K|BCORL1_ENST00000359304.2_Missense_Mutation_p.Q1191K			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1191					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.Q1191K(1)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GCCGGAGTCCCAGTCTCCAGG	0.622																																						ENST00000540052.1																			1	Substitution - Missense(1)	p.Q1191K(1)	prostate(1)	breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(3571-3573)Cag>Aag		BCL6 corepressor-like 1							34.0	35.0	35.0					X																	129155089		2200	4299	6499	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129155089C>A	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.3571C>A	X.37:g.129155089C>A	ENSP00000218147:p.Gln1191Lys					BCORL1_ENST00000359304.2_Missense_Mutation_p.Q1191K|BCORL1_ENST00000218147.7_Missense_Mutation_p.Q1191K|BCORL1_ENST00000303743.5_Missense_Mutation_p.Q1191K	p.Q1191K	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN			4	3615	+			1191					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.3571C>A	CCDS14616.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.24|19.24	3.789600|3.789600	0.70337|0.70337	.|.	.|.	ENSG00000085185|ENSG00000085185	ENST00000441294|ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822	.|T;T;T;T;T	.|0.39592	.|1.07;1.43;1.07;1.07;1.5	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	.|0.239409	.|0.21703	.|N	.|0.070381	T|T	0.36386|0.36386	0.0965|0.0965	L|L	0.27053|0.27053	0.805|0.805	0.28758|0.28758	N|N	0.901059|0.901059	.|P;B	.|0.52692	.|0.955;0.41	.|P;B	.|0.47162	.|0.54;0.096	T|T	0.20472|0.20472	-1.0274|-1.0274	5|10	.|0.10111	.|T	.|0.7	-6.6112|-6.6112	16.7455|16.7455	0.85470|0.85470	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1191;1191	.|Q5H9F3-2;Q5H9F3	.|.;BCORL_HUMAN	Q|K	626|1191;1191;1191;1191;791	.|ENSP00000218147:Q1191K;ENSP00000307541:Q1191K;ENSP00000352253:Q1191K;ENSP00000437775:Q1191K;ENSP00000399483:Q791K	.|ENSP00000218147:Q1191K	P|Q	+|+	2|1	0|0	BCORL1|BCORL1	128982770|128982770	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	2.168000|2.168000	0.42424|0.42424	2.618000|2.618000	0.88619|0.88619	0.600000|0.600000	0.82982|0.82982	CCA|CAG		0.622	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		3	23	1	0	1	1	1	3	23				
MCM6	4175	broad.mit.edu	37	2	136630397	136630397	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr2:136630397C>A	ENST00000264156.2	-	2	184	c.124G>T	c.(124-126)Gga>Tga	p.G42*		NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	42					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)		TTAATTTCTCCATCGCTGCTC	0.403																																					Ovarian(196;141 2104 8848 24991 25939)	ENST00000264156.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29						c.(124-126)Gga>Tga		minichromosome maintenance complex component 6	Atorvastatin(DB01076)						128.0	119.0	122.0					2																	136630397		2203	4300	6503	SO:0001587	stop_gained	4175				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding	g.chr2:136630397C>A		CCDS2179.1	2q14-q21	2008-02-05	2007-04-04		ENSG00000076003	ENSG00000076003			6949	protein-coding gene	gene with protein product	"""MIS5 homolog (S.pombe)"""	601806	"""minichromosome maintenance deficient (mis5, S. pombe) 6"", ""MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae)"", ""minichromosome maintenance deficient 6 homolog (S. cerevisiae)"""				Standard	NM_005915		Approved	Mis5	uc002tuw.4	Q14566	OTTHUMG00000131739	ENST00000264156.2:c.124G>T	2.37:g.136630397C>A	ENSP00000264156:p.Gly42*						p.G42*	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.166)	2	184	-			42					B2R6H2|Q13504|Q99859	Nonsense_Mutation	SNP	ENST00000264156.2	37	c.124G>T	CCDS2179.1	.	.	.	.	.	.	.	.	.	.	C	37	6.166919	0.97343	.	.	ENSG00000076003	ENST00000264156	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-20.2996	19.7324	0.96188	0.0:1.0:0.0:0.0	.	.	.	.	X	42	.	ENSP00000264156:G42X	G	-	1	0	MCM6	136346867	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	6.031000	0.70911	2.663000	0.90544	0.655000	0.94253	GGA		0.403	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	NM_005915		4	171	1	0	1	1	1	4	171				
TAAR8	83551	broad.mit.edu	37	6	132873901	132873901	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr6:132873901A>G	ENST00000275200.1	+	1	70	c.70A>G	c.(70-72)Act>Gct	p.T24A		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	24					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		TTGTATTGAAACTCCCTATTC	0.428																																						ENST00000275200.1																			0				endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(70-72)Act>Gct		trace amine associated receptor 8							170.0	153.0	158.0					6																	132873901		2203	4300	6503	SO:0001583	missense	83551					plasma membrane	G-protein coupled receptor activity	g.chr6:132873901A>G	AF380193	CCDS5154.1	6q23.2	2014-05-14	2005-02-23	2005-02-24	ENSG00000146385	ENSG00000146385		"""GPCR / Class A : Trace amine associated receptors"""	14964	protein-coding gene	gene with protein product		606927	"""trace amine receptor 5"""	GPR102, TRAR5		11574155, 15718104	Standard	NM_053278		Approved	TA5, TAR5	uc011ecj.2	Q969N4	OTTHUMG00000015586	ENST00000275200.1:c.70A>G	6.37:g.132873901A>G	ENSP00000275200:p.Thr24Ala						p.T24A	NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)	1	70	+	Breast(56;0.112)		24					Q5VUQ0	Missense_Mutation	SNP	ENST00000275200.1	37	c.70A>G	CCDS5154.1	.	.	.	.	.	.	.	.	.	.	A	11.21	1.572699	0.28092	.	.	ENSG00000146385	ENST00000275200	T	0.36520	1.25	4.61	-1.55	0.08558	.	0.734179	0.11262	N	0.582452	T	0.15046	0.0363	M	0.83384	2.64	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.30416	-0.9979	10	0.41790	T	0.15	-3.7586	1.0174	0.01510	0.462:0.11:0.152:0.276	.	24	Q969N4	TAAR8_HUMAN	A	24	ENSP00000275200:T24A	ENSP00000275200:T24A	T	+	1	0	TAAR8	132915594	0.000000	0.05858	0.003000	0.11579	0.029000	0.11900	-0.028000	0.12350	-0.191000	0.10448	0.533000	0.62120	ACT		0.428	TAAR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042262.1	NM_053278		4	309	0	0	0	1	0	4	309				
SPTA1	6708	broad.mit.edu	37	1	158617396	158617396	+	Missense_Mutation	SNP	G	G	A	rs143642542	byFrequency	TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr1:158617396G>A	ENST00000368147.4	-	27	4009	c.3829C>T	c.(3829-3831)Cgt>Tgt	p.R1277C		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1277					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.R1277C(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCCTTTGTACGCCCCTGCAGG	0.562													G|||	8	0.00159744	0.0023	0.0043	5008	,	,		18162	0.001		0.0	False		,,,				2504	0.001					ENST00000368148.3																			1	Substitution - Missense(1)	p.R1277C(1)	prostate(1)	NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(3829-3831)Cgt>Tgt		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)		G	CYS/ARG	2,3948		0,2,1973	113.0	114.0	114.0		3829	-1.1	0.0	1	dbSNP_134	114	0,8296		0,0,4148	yes	missense	SPTA1	NM_003126.2	180	0,2,6121	AA,AG,GG		0.0,0.0506,0.0163	benign	1277/2420	158617396	2,12244	1975	4148	6123	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158617396G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3829C>T	1.37:g.158617396G>A	ENSP00000357129:p.Arg1277Cys					SPTA1_ENST00000368147.3_Missense_Mutation_p.R1277C	p.R1277C	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			27	4009	-	all_hematologic(112;0.0378)		1277					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.3829C>T	CCDS41423.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	5.969	0.362783	0.11296	5.06E-4	0.0	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.52526	0.66;0.66	4.43	-1.13	0.09775	.	.	.	.	.	T	0.17916	0.0430	L	0.45352	1.415	0.09310	N	1	B	0.16396	0.017	B	0.18561	0.022	T	0.37407	-0.9707	9	0.59425	D	0.04	.	7.7532	0.28909	0.1407:0.362:0.4973:0.0	.	1277	P02549	SPTA1_HUMAN	C	1277	ENSP00000357130:R1277C;ENSP00000357129:R1277C	ENSP00000357129:R1277C	R	-	1	0	SPTA1	156884020	0.161000	0.22892	0.000000	0.03702	0.013000	0.08279	2.855000	0.48333	-0.293000	0.08986	0.563000	0.77884	CGT		0.562	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		14	208	0	0	0	1	0	14	208				
NBEA	26960	broad.mit.edu	37	13	36158143	36158143	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr13:36158143G>A	ENST00000400445.3	+	46	7678	c.7144G>A	c.(7144-7146)Gca>Aca	p.A2382T	NBEA_ENST00000537702.1_Missense_Mutation_p.A175T|NBEA_ENST00000379939.2_Missense_Mutation_p.A2379T|NBEA_ENST00000540320.1_Missense_Mutation_p.A2382T|NBEA_ENST00000310336.4_Missense_Mutation_p.A2382T	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2382	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026, ECO:0000305}.				protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TTATTCAACAGCAACATCTAC	0.363																																						ENST00000540320.1																			0				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108						c.(7144-7146)Gca>Aca		neurobeachin							212.0	212.0	212.0					13																	36158143		1866	4105	5971	SO:0001583	missense	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:36158143G>A	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.7144G>A	13.37:g.36158143G>A	ENSP00000383295:p.Ala2382Thr					NBEA_ENST00000400445.3_Missense_Mutation_p.A2382T|NBEA_ENST00000379939.2_Missense_Mutation_p.A2379T|NBEA_ENST00000310336.4_Missense_Mutation_p.A2382T|NBEA_ENST00000537702.1_Missense_Mutation_p.A175T	p.A2382T			Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	46	7678	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	2382			BEACH.		B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	c.7144G>A	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.190335	0.58017	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518;ENST00000543274;ENST00000537702	T;T;T;T;T	0.80653	-1.4;-1.4;-1.4;-1.4;-1.4	5.74	2.74	0.32292	BEACH domain (4);	0.267655	0.43260	D	0.000581	D	0.88640	0.6491	M	0.92691	3.335	0.32299	N	0.565284	P;D	0.54397	0.831;0.966	P;P	0.54140	0.657;0.743	D	0.91986	0.5599	10	0.72032	D	0.01	.	13.4572	0.61206	0.0:0.0:0.4746:0.5254	.	2382;2379	Q8NFP9;Q5T321	NBEA_HUMAN;.	T	2382;2382;2379;2382;1009;175;175	ENSP00000440951:A2382T;ENSP00000383295:A2382T;ENSP00000369271:A2379T;ENSP00000308534:A2382T;ENSP00000440233:A175T	ENSP00000308534:A2382T	A	+	1	0	NBEA	35056143	0.996000	0.38824	0.090000	0.20809	0.535000	0.34838	2.424000	0.44714	1.395000	0.46643	0.650000	0.86243	GCA		0.363	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		5	344	0	0	0	1	0	5	344				
UGP2	7360	broad.mit.edu	37	2	64114692	64114692	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr2:64114692A>T	ENST00000337130.5	+	8	1704	c.1228A>T	c.(1228-1230)Agt>Tgt	p.S410C	UGP2_ENST00000467648.2_Missense_Mutation_p.S399C|UGP2_ENST00000394417.2_Missense_Mutation_p.S399C|UGP2_ENST00000445915.2_Missense_Mutation_p.S419C	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	410					carbohydrate metabolic process (GO:0005975)|cellular glucuronidation (GO:0052695)|glucose 1-phosphate metabolic process (GO:0019255)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	glucose binding (GO:0005536)|metal ion binding (GO:0046872)|pyrimidine ribonucleotide binding (GO:0032557)|UTP:glucose-1-phosphate uridylyltransferase activity (GO:0003983)	p.S410C(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						AAACCTCTATAGTCTTAATGC	0.403																																						ENST00000337130.5																			1	Substitution - Missense(1)	p.S410C(1)	prostate(1)	endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						c.(1228-1230)Agt>Tgt		UDP-glucose pyrophosphorylase 2							142.0	143.0	143.0					2																	64114692		2203	4300	6503	SO:0001583	missense	7360				glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity	g.chr2:64114692A>T		CCDS1875.1, CCDS42690.1	2p14-p13	2012-10-02			ENSG00000169764	ENSG00000169764	2.7.7.9		12527	protein-coding gene	gene with protein product		191760	"""UDP-glucose pyrophosphorylase 1"""	UGP1			Standard	NM_006759		Approved	UGPP1	uc002scm.3	Q16851	OTTHUMG00000129513	ENST00000337130.5:c.1228A>T	2.37:g.64114692A>T	ENSP00000338703:p.Ser410Cys					UGP2_ENST00000467648.2_Missense_Mutation_p.S399C|UGP2_ENST00000445915.2_Missense_Mutation_p.S419C|UGP2_ENST00000394417.2_Missense_Mutation_p.S399C	p.S410C	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN			8	1704	+			410					Q07131|Q0P6K2|Q86Y81|Q9BU15	Missense_Mutation	SNP	ENST00000337130.5	37	c.1228A>T	CCDS1875.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.684678	0.88639	.	.	ENSG00000169764	ENST00000394417;ENST00000467648;ENST00000337130;ENST00000445915	T;T;T;T	0.19105	2.17;2.17;2.17;2.17	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.39600	0.1084	L	0.55103	1.725	0.80722	D	1	D;D	0.63880	0.993;0.987	P;P	0.61275	0.886;0.84	T	0.06807	-1.0806	10	0.45353	T	0.12	-23.1089	16.1536	0.81640	1.0:0.0:0.0:0.0	.	419;410	E7EUC7;Q16851	.;UGPA_HUMAN	C	399;399;410;419	ENSP00000377939:S399C;ENSP00000420793:S399C;ENSP00000338703:S410C;ENSP00000411803:S419C	ENSP00000338703:S410C	S	+	1	0	UGP2	63968196	1.000000	0.71417	0.992000	0.48379	0.974000	0.67602	9.335000	0.96500	2.203000	0.70933	0.528000	0.53228	AGT		0.403	UGP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251688.1	NM_006759		8	246	0	0	0	1	0	8	246				
FYTTD1	84248	broad.mit.edu	37	3	197497068	197497068	+	Silent	SNP	G	G	A			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr3:197497068G>A	ENST00000241502.4	+	4	672	c.450G>A	c.(448-450)caG>caA	p.Q150Q	FYTTD1_ENST00000415708.2_Silent_p.Q124Q|FYTTD1_ENST00000428395.2_Silent_p.Q59Q|FYTTD1_ENST00000424384.2_Silent_p.Q83Q	NM_032288.6	NP_115664.2	Q96QD9	UIF_HUMAN	forty-two-three domain containing 1	150					mRNA export from nucleus (GO:0006406)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)	p.Q150Q(1)		kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.175)		ATGAAGGGCAGAGGAAACCAG	0.348																																						ENST00000428395.2																			1	Substitution - coding silent(1)	p.Q150Q(1)	prostate(1)	kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13						c.(175-177)caG>caA		forty-two-three domain containing 1							70.0	67.0	68.0					3																	197497068		2203	4300	6503	SO:0001819	synonymous_variant	84248				mRNA export from nucleus	nuclear speck	mRNA binding|protein binding	g.chr3:197497068G>A	AJ344094	CCDS3329.1, CCDS43196.1, CCDS43196.2	3q29	2011-03-03			ENSG00000122068	ENSG00000122068			25407	protein-coding gene	gene with protein product	"""UAP56-interacting factor"""					19836239	Standard	NM_001011537		Approved	DKFZp761B1514, UIF	uc003fyi.2	Q96QD9	OTTHUMG00000155453	ENST00000241502.4:c.450G>A	3.37:g.197497068G>A						FYTTD1_ENST00000241502.3_Silent_p.Q150Q|FYTTD1_ENST00000424384.2_Silent_p.Q83Q|FYTTD1_ENST00000415708.2_Silent_p.Q124Q	p.Q59Q	NM_001011537.2	NP_001011537.2	Q96QD9	UIF_HUMAN	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.175)	5	610	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	150					A8MY74|B2RCB2|B7Z3R4|B7Z7V1|B7Z8I0|B7ZAJ3|C9J7P6|C9JNG6|C9JTH3|C9JY50|Q96SL9|Q9BQI8	Silent	SNP	ENST00000241502.4	37	c.177G>A	CCDS3329.1																																																																																				0.348	FYTTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340185.3	NM_032288		4	21	0	0	0	1	0	4	21				
ZNF814	730051	broad.mit.edu	37	19	58385748	58385748	+	Missense_Mutation	SNP	G	G	A	rs145250945		TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr19:58385748G>A	ENST00000435989.2	-	3	1244	c.1010C>T	c.(1009-1011)gCt>gTt	p.A337V	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	337					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A337V(2)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ACTGAAGCTAGCATATTTGCT	0.353																																						ENST00000435989.2																			2	Substitution - Missense(2)	p.A337V(2)	prostate(2)	NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(1009-1011)gCt>gTt		zinc finger protein 814							58.0	51.0	53.0					19																	58385748		692	1591	2283	SO:0001583	missense	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385748G>A		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1010C>T	19.37:g.58385748G>A	ENSP00000410545:p.Ala337Val					ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron	p.A337V	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN			3	1244	-			337					A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	c.1010C>T	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	3.777	-0.046344	0.07407	.	.	ENSG00000204514	ENST00000435989	T	0.15372	2.43	2.11	-4.21	0.03812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07728	0.0194	N	0.21142	0.635	0.09310	N	1	B	0.32781	0.384	B	0.18561	0.022	T	0.05649	-1.0872	9	0.66056	D	0.02	.	3.5015	0.07674	0.0936:0.1206:0.3016:0.4843	.	337	B7Z6K7	ZN814_HUMAN	V	337	ENSP00000410545:A337V	ENSP00000410545:A337V	A	-	2	0	ZNF814	63077560	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.230000	0.01207	-3.525000	0.00147	-3.867000	0.00017	GCT		0.353	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		5	11	0	0	0	1	0	5	11				
LRIG1	26018	broad.mit.edu	37	3	66463350	66463350	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr3:66463350T>G	ENST00000273261.3	-	6	1260	c.736A>C	c.(736-738)Aac>Cac	p.N246H	LRIG1_ENST00000383703.3_Missense_Mutation_p.N246H	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	246					innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)		p.N246H(2)		NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TTGCTGATGTTGTTTCGCTGA	0.532																																						ENST00000383703.3																			2	Substitution - Missense(2)	p.N246H(2)	prostate(2)	NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42						c.(736-738)Aac>Cac		leucine-rich repeats and immunoglobulin-like domains 1							228.0	157.0	181.0					3																	66463350		2203	4300	6503	SO:0001583	missense	26018					integral to membrane		g.chr3:66463350T>G	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"""Immunoglobulin superfamily / I-set domain containing"""	17360	protein-coding gene	gene with protein product	"""ortholog of mouse integral membrane glycoprotein LIG-1"", ""leucine-rich repeat protein LRIG1"""	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.736A>C	3.37:g.66463350T>G	ENSP00000273261:p.Asn246His					LRIG1_ENST00000273261.3_Missense_Mutation_p.N246H	p.N246H			Q96JA1	LRIG1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00047)	6	1339	-		Lung NSC(201;0.0101)	246					Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	ENST00000273261.3	37	c.736A>C	CCDS33783.1	.	.	.	.	.	.	.	.	.	.	T	15.01	2.707218	0.48412	.	.	ENSG00000144749	ENST00000273261;ENST00000383703;ENST00000383702	T;T	0.58358	0.34;0.34	5.69	4.53	0.55603	.	0.186412	0.56097	D	0.000027	T	0.41236	0.1150	N	0.25825	0.765	0.43421	D	0.995577	B;B	0.33000	0.393;0.221	B;B	0.35727	0.142;0.209	T	0.29701	-1.0003	10	0.45353	T	0.12	.	11.366	0.49673	0.0:0.0708:0.0:0.9292	.	246;246	Q96JA1-2;Q96JA1	.;LRIG1_HUMAN	H	246;246;173	ENSP00000273261:N246H;ENSP00000373208:N246H	ENSP00000273261:N246H	N	-	1	0	LRIG1	66546040	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	1.837000	0.39201	0.999000	0.39023	0.402000	0.26972	AAC		0.532	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		16	60	0	0	0	1	0	16	60				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			0							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		5	120	0	0	0	1	0	5	120				
MRGPRX2	117194	broad.mit.edu	37	11	19077003	19077003	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr11:19077003C>A	ENST00000329773.2	-	2	1034	c.947G>T	c.(946-948)tGc>tTc	p.C316F		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	316					positive regulation of cytokinesis (GO:0032467)|sensory perception of pain (GO:0019233)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide binding (GO:0042923)			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						CTGACGGAAGCATCCTTCACT	0.552																																					GBM(198;1966 2199 4849 37227 49954)	ENST00000329773.2																			0				NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						c.(946-948)tGc>tTc		MAS-related GPR, member X2							66.0	67.0	67.0					11																	19077003		2199	4293	6492	SO:0001583	missense	117194				sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding	g.chr11:19077003C>A		CCDS7847.1	11p15.1	2013-10-10			ENSG00000183695	ENSG00000183695		"""GPCR / Class A : Orphans"""	17983	protein-coding gene	gene with protein product		607228				11551509	Standard	NM_054030		Approved	MRGX2	uc001mph.3	Q96LB1	OTTHUMG00000166098	ENST00000329773.2:c.947G>T	11.37:g.19077003C>A	ENSP00000333800:p.Cys316Phe						p.C316F	NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN			2	1034	-			316					B5B0C7|Q4QXW4|Q4QXW7|Q4QXX0|Q4QXX2|Q4QXX3|Q4QXX4|Q4QXX6|Q4QXX7	Missense_Mutation	SNP	ENST00000329773.2	37	c.947G>T	CCDS7847.1	.	.	.	.	.	.	.	.	.	.	.	5.741	0.321201	0.10845	.	.	ENSG00000183695	ENST00000329773	T	0.05513	3.43	4.71	0.58	0.17402	.	1.271040	0.05154	N	0.496474	T	0.04907	0.0132	N	0.22421	0.69	0.09310	N	1	B	0.14438	0.01	B	0.09377	0.004	T	0.42849	-0.9427	10	0.42905	T	0.14	.	3.7135	0.08428	0.1545:0.4124:0.3434:0.0897	.	316	Q96LB1	MRGX2_HUMAN	F	316	ENSP00000333800:C316F	ENSP00000333800:C316F	C	-	2	0	MRGPRX2	19033579	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.039000	0.12124	0.122000	0.18314	0.650000	0.86243	TGC		0.552	MRGPRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387819.1	NM_054030		4	134	1	0	0.150653	1	0.159262	4	134				
USP46	64854	broad.mit.edu	37	4	53468062	53468062	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr4:53468062C>A	ENST00000441222.3	-	7	1065	c.881G>T	c.(880-882)cGc>cTc	p.R294L	USP46_ENST00000451218.2_Missense_Mutation_p.R267L|USP46_ENST00000508499.1_Missense_Mutation_p.R287L	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	ubiquitin specific peptidase 46	294	USP.				adult feeding behavior (GO:0008343)|behavioral fear response (GO:0001662)|behavioral response to ethanol (GO:0048149)|protein deubiquitination (GO:0016579)|regulation of synaptic transmission, GABAergic (GO:0032228)|righting reflex (GO:0060013)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12			LUSC - Lung squamous cell carcinoma(32;0.0295)			GTCATACATGCGGTCCAGGTT	0.537																																						ENST00000441222.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12						c.(880-882)cGc>cTc		ubiquitin specific peptidase 46							107.0	104.0	105.0					4																	53468062		2082	4216	6298	SO:0001583	missense	64854				behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr4:53468062C>A	AK022614	CCDS47053.1, CCDS47054.1	4q12	2008-02-05	2005-08-08		ENSG00000109189	ENSG00000109189		"""Ubiquitin-specific peptidases"""	20075	protein-coding gene	gene with protein product		612849	"""ubiquitin specific protease 46"""			12838346	Standard	NM_022832		Approved	FLJ12552	uc003gzn.3	P62068	OTTHUMG00000160640	ENST00000441222.3:c.881G>T	4.37:g.53468062C>A	ENSP00000407818:p.Arg294Leu					USP46_ENST00000508499.1_Missense_Mutation_p.R287L|USP46_ENST00000451218.2_Missense_Mutation_p.R267L	p.R294L	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.0295)		7	1065	-			294					B7Z3Y7|B7Z675|B7Z7S3|G8ACC7|Q80V95|Q9H7U4|Q9H9T8	Missense_Mutation	SNP	ENST00000441222.3	37	c.881G>T	CCDS47053.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.407845	0.83340	.	.	ENSG00000109189	ENST00000441222;ENST00000451218;ENST00000508499	T;T;T	0.28666	1.6;1.6;1.6	5.32	4.48	0.54585	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.50627	U	0.000118	T	0.34221	0.0890	L	0.31420	0.93	0.80722	D	1	B;B;P;P	0.47604	0.011;0.011;0.898;0.798	B;B;P;P	0.54664	0.024;0.024;0.737;0.758	T	0.03335	-1.1047	10	0.20519	T	0.43	-14.7655	13.5402	0.61671	0.0:0.9246:0.0:0.0754	.	178;282;294;287	P62068-2;P62068-4;P62068;P62068-3	.;.;UBP46_HUMAN;.	L	294;267;287	ENSP00000407818:R294L;ENSP00000390102:R267L;ENSP00000423244:R287L	ENSP00000407818:R294L	R	-	2	0	USP46	53162819	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	7.776000	0.85560	1.371000	0.46172	-0.157000	0.13467	CGC		0.537	USP46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361516.2	NM_022832		3	105	1	0	0.004672	1	0.0052383	3	105				
GRM5	2915	broad.mit.edu	37	11	88583140	88583140	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr11:88583140G>A	ENST00000305447.4	-	2	994	c.845C>T	c.(844-846)aCg>aTg	p.T282M	GRM5_ENST00000418177.2_Missense_Mutation_p.T282M|GRM5_ENST00000455756.2_Missense_Mutation_p.T282M|GRM5_ENST00000393297.1_Missense_Mutation_p.T282M|GRM5_ENST00000305432.5_Missense_Mutation_p.T282M	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	282					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.T282M(2)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	ACCTCTCACCGTCATGCCCTC	0.522																																						ENST00000418177.2																			2	Substitution - Missense(2)	p.T282M(2)	prostate(2)	NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(844-846)aCg>aTg		glutamate receptor, metabotropic 5	Acamprosate(DB00659)						62.0	65.0	64.0					11																	88583140		2201	4299	6500	SO:0001583	missense	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88583140G>A	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.845C>T	11.37:g.88583140G>A	ENSP00000306138:p.Thr282Met					GRM5_ENST00000393297.1_Missense_Mutation_p.T282M|GRM5_ENST00000305447.4_Missense_Mutation_p.T282M|GRM5_ENST00000305432.5_Missense_Mutation_p.T282M|GRM5_ENST00000455756.2_Missense_Mutation_p.T282M	p.T282M			P41594	GRM5_HUMAN			3	1212	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	282					Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	c.845C>T	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.370915	0.82573	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71;-1.71	5.39	5.39	0.77823	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.91033	0.7179	M	0.73962	2.25	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.90474	0.4455	9	.	.	.	.	19.1659	0.93557	0.0:0.0:1.0:0.0	.	282;282	P41594-2;P41594	.;GRM5_HUMAN	M	282	ENSP00000402912:T282M;ENSP00000405690:T282M;ENSP00000305905:T282M;ENSP00000306138:T282M;ENSP00000376975:T282M	.	T	-	2	0	GRM5	88222788	1.000000	0.71417	0.969000	0.41365	0.840000	0.47671	9.033000	0.93741	2.528000	0.85240	0.563000	0.77884	ACG		0.522	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		53	112	0	0	0	1	0	53	112				
PLEKHS1	79949	broad.mit.edu	37	10	115527188	115527188	+	Silent	SNP	C	C	T			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr10:115527188C>T	ENST00000369310.3	+	4	853	c.291C>T	c.(289-291)gtC>gtT	p.V97V	PLEKHS1_ENST00000361048.1_Silent_p.V103V|PLEKHS1_ENST00000369312.4_Silent_p.V15V	NM_182601.1	NP_872407.1	Q5SXH7	PKHS1_HUMAN	pleckstrin homology domain containing, family S member 1	97	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.							p.V103V(1)|p.V15V(1)									CTGATGAGGTCATGTCCATCA	0.403																																						ENST00000361048.1																			2	Substitution - coding silent(2)	p.V103V(1)|p.V15V(1)	prostate(2)								c.(307-309)gtC>gtT		pleckstrin homology domain containing, family S member 1							95.0	93.0	93.0					10																	115527188		2203	4300	6503	SO:0001819	synonymous_variant	79949							g.chr10:115527188C>T	AK027190	CCDS7583.1, CCDS53580.1, CCDS53581.1	10q26.11	2013-01-11	2012-05-31	2012-05-31	ENSG00000148735	ENSG00000148735		"""Pleckstrin homology (PH) domain containing"""	26285	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 81"""	C10orf81		12477932	Standard	NM_024889		Approved	FLJ23537, bA211N11.2	uc001lat.2	Q5SXH7	OTTHUMG00000019074	ENST00000369310.3:c.291C>T	10.37:g.115527188C>T						PLEKHS1_ENST00000369310.3_Silent_p.V97V|PLEKHS1_ENST00000369312.4_Silent_p.V15V	p.V103V	NM_024889.4	NP_079165.3					5	636	+								A8KA02|B3KX00|B6EDE1|Q5SXH8|Q5SXI0|Q6ZQR5|Q8NE42|Q9H5D9	Silent	SNP	ENST00000369310.3	37	c.309C>T	CCDS53580.1																																																																																				0.403	PLEKHS1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050432.1	NM_024889		25	73	0	0	0	1	0	25	73				
CYP21A1P	1590	broad.mit.edu	37	6	31975463	31975463	+	5'Flank	SNP	T	T	C	rs370433041	byFrequency	TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr6:31975463T>C	ENST00000594256.1	-	0	0				CYP21A1P_ENST00000342991.6_RNA																							GCAGCGACTGTAGGAGGAGCT	0.657													C|||	271	0.0541134	0.1324	0.0303	5008	,	,		12708	0.0288		0.0268	False		,,,				2504	0.0194					ENST00000342991.6																			0																																																	SO:0001631	upstream_gene_variant	0						electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr6:31975463T>C																													6.37:g.31975463T>C	Exception_encountered							NR_040090.1		Q5ST44	Q5ST44_HUMAN			0	1386	+									RNA	SNP	ENST00000594256.1	37																																																																																						0.657	AL645922.1-201	NOVEL	basic|appris_principal	protein_coding	protein_coding				3	25	0	0	0	1	0	3	25				
VWA3A	146177	broad.mit.edu	37	16	22120821	22120821	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr16:22120821G>A	ENST00000389398.5	+	7	598	c.502G>A	c.(502-504)Ggg>Agg	p.G168R	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	168						extracellular region (GO:0005576)		p.G168R(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CCTCATCAAAGGGGCCAGAGT	0.512																																						ENST00000389398.5																			1	Substitution - Missense(1)	p.G168R(1)	prostate(1)	haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						c.(502-504)Ggg>Agg		von Willebrand factor A domain containing 3A							101.0	86.0	90.0					16																	22120821		692	1591	2283	SO:0001583	missense	146177					extracellular region		g.chr16:22120821G>A	AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.502G>A	16.37:g.22120821G>A	ENSP00000374049:p.Gly168Arg					VWA3A_ENST00000389397.4_5'UTR	p.G168R	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN		GBM - Glioblastoma multiforme(48;0.0439)	7	598	+			168					A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Missense_Mutation	SNP	ENST00000389398.5	37	c.502G>A	CCDS45441.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.249792	0.80024	.	.	ENSG00000175267	ENST00000310694;ENST00000389398	T	0.14640	2.49	5.29	5.29	0.74685	.	0.000000	0.64402	D	0.000020	T	0.36771	0.0979	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.06734	-1.0810	10	0.72032	D	0.01	.	17.5529	0.87881	0.0:0.0:1.0:0.0	.	168	A6NCI4	VWA3A_HUMAN	R	68;168	ENSP00000374049:G168R	ENSP00000308827:G68R	G	+	1	0	VWA3A	22028322	1.000000	0.71417	0.999000	0.59377	0.824000	0.46624	5.398000	0.66308	2.481000	0.83766	0.650000	0.86243	GGG		0.512	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430052.1			9	16	0	0	0	1	0	9	16				
BAZ1B	9031	broad.mit.edu	37	7	72858424	72858424	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr7:72858424C>A	ENST00000339594.4	-	17	4218	c.3880G>T	c.(3880-3882)Gtc>Ttc	p.V1294F	BAZ1B_ENST00000404251.1_Missense_Mutation_p.V1294F	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1294					cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)	p.V1294I(1)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGGGGGATGACGCTGTGCTTG	0.562																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)	ENST00000339594.4																			1	Substitution - Missense(1)	p.V1294I(1)	prostate(1)	NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(3880-3882)Gtc>Ttc		bromodomain adjacent to zinc finger domain, 1B							99.0	94.0	95.0					7																	72858424		2203	4300	6503	SO:0001583	missense	9031				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding	g.chr7:72858424C>A	AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.3880G>T	7.37:g.72858424C>A	ENSP00000342434:p.Val1294Phe					BAZ1B_ENST00000404251.1_Missense_Mutation_p.V1294F	p.V1294F	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN			17	4218	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	1294					B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	ENST00000339594.4	37	c.3880G>T	CCDS5549.1	.	.	.	.	.	.	.	.	.	.	C	10.07	1.248718	0.22880	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.59502	0.26;0.26	5.74	2.9	0.33743	.	0.704169	0.13234	N	0.403361	T	0.33702	0.0872	N	0.14661	0.345	0.09310	N	1	P	0.34724	0.465	B	0.29077	0.098	T	0.10314	-1.0635	10	0.18710	T	0.47	-4.1079	8.4813	0.33045	0.0:0.7477:0.0:0.2523	.	1294	Q9UIG0	BAZ1B_HUMAN	F	1294	ENSP00000342434:V1294F;ENSP00000385442:V1294F	ENSP00000342434:V1294F	V	-	1	0	BAZ1B	72496360	0.000000	0.05858	0.410000	0.26471	0.409000	0.31022	0.009000	0.13219	0.412000	0.25729	0.563000	0.77884	GTC		0.562	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408		5	219	1	0	0.000602214	1	0.00069631	5	219				
LRRC8E	80131	broad.mit.edu	37	19	7964266	7964266	+	Silent	SNP	A	A	C			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr19:7964266A>C	ENST00000306708.6	+	3	960	c.859A>C	c.(859-861)Agg>Cgg	p.R287R	RN7SL115P_ENST00000392196.5_RNA|AC010336.1_ENST00000539278.1_3'UTR	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	287					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						GGTGGCCTGTAGGGTGGAGAC	0.542																																						ENST00000306708.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						c.(859-861)Agg>Cgg		leucine rich repeat containing 8 family, member E							123.0	102.0	109.0					19																	7964266		2203	4300	6503	SO:0001819	synonymous_variant	80131					integral to membrane		g.chr19:7964266A>C		CCDS12189.1	19p13.2	2008-02-05				ENSG00000171017			26272	protein-coding gene	gene with protein product		612891				12477932	Standard	NM_025061		Approved	FLJ23420	uc002mir.3	Q6NSJ5		ENST00000306708.6:c.859A>C	19.37:g.7964266A>C						AC010336.1_ENST00000539278.1_3'UTR	p.R287R	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN			3	960	+			287					B3KR78|Q2YDY3|Q7L236|Q8N3B0|Q9H5H8	Silent	SNP	ENST00000306708.6	37	c.859A>C	CCDS12189.1																																																																																				0.542	LRRC8E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461354.1	NM_025061		3	93	0	0	0	1	0	3	93				
NRP1	8829	broad.mit.edu	37	10	33469152	33469152	+	Missense_Mutation	SNP	C	C	T	rs142822518		TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr10:33469152C>T	ENST00000265371.4	-	18	3149	c.2624G>A	c.(2623-2625)tGt>tAt	p.C875Y	NRP1_ENST00000374867.2_Missense_Mutation_p.C875Y|NRP1_ENST00000395995.1_Missense_Mutation_p.C858Y|NRP1_ENST00000374875.1_Missense_Mutation_p.C687Y			O14786	NRP1_HUMAN	neuropilin 1	875					angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	CACGACCCCACAGACAGCCCC	0.517																																					Melanoma(104;886 1489 44640 45944 51153)	ENST00000265371.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48						c.(2623-2625)tGt>tAt		neuropilin 1	Palifermin(DB00039)|Pegaptanib(DB04895)						159.0	153.0	155.0					10																	33469152		2203	4300	6503	SO:0001583	missense	8829				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity	g.chr10:33469152C>T	AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"""CD molecules"""	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.2624G>A	10.37:g.33469152C>T	ENSP00000265371:p.Cys875Tyr					NRP1_ENST00000374867.2_Missense_Mutation_p.C875Y|NRP1_ENST00000395995.1_Missense_Mutation_p.C858Y	p.C875Y			O14786	NRP1_HUMAN			18	3149	-			875					B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Missense_Mutation	SNP	ENST00000265371.4	37	c.2624G>A	CCDS7177.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.154509	0.57259	.	.	ENSG00000099250	ENST00000265371;ENST00000374875;ENST00000374867;ENST00000413802;ENST00000395995	D;D;D;D	0.97279	-3.2;-4.32;-3.2;-2.6	5.84	5.84	0.93424	Neuropilin-1, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97601	0.9214	L	0.36672	1.1	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;0.999	D	0.98543	1.0633	10	0.87932	D	0	-24.0673	20.1551	0.98106	0.0:1.0:0.0:0.0	.	869;875;875;687;858	A8K9V7;Q68DN3;O14786;Q5JWQ6;E9PEP6	.;.;NRP1_HUMAN;.;.	Y	875;687;875;57;858	ENSP00000265371:C875Y;ENSP00000364009:C687Y;ENSP00000364001:C875Y;ENSP00000379317:C858Y	ENSP00000265371:C875Y	C	-	2	0	NRP1	33509158	1.000000	0.71417	0.313000	0.25210	0.265000	0.26407	7.487000	0.81328	2.760000	0.94817	0.655000	0.94253	TGT		0.517	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051203.2			6	335	0	0	0	1	0	6	335				
LOXL3	84695	broad.mit.edu	37	2	74763166	74763166	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr2:74763166G>A	ENST00000264094.3	-	7	1276	c.1205C>T	c.(1204-1206)gCc>gTc	p.A402V	LOXL3_ENST00000409549.1_Missense_Mutation_p.A402V|LOXL3_ENST00000409986.1_Missense_Mutation_p.A257V|LOXL3_ENST00000409249.1_Intron|LOXL3_ENST00000393937.2_Missense_Mutation_p.A257V	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	402	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)	p.A402V(1)		endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						CCGGACCCCGGCATCCTGGCT	0.552																																						ENST00000264094.3																			1	Substitution - Missense(1)	p.A402V(1)	prostate(1)	endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						c.(1204-1206)gCc>gTc		lysyl oxidase-like 3							96.0	95.0	95.0					2																	74763166		2203	4300	6503	SO:0001583	missense	84695					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity	g.chr2:74763166G>A	AF282619	CCDS1953.1, CCDS74527.1	2p13	2008-05-23			ENSG00000115318	ENSG00000115318			13869	protein-coding gene	gene with protein product		607163				11386757	Standard	NM_032603		Approved		uc002smp.1	P58215	OTTHUMG00000129953	ENST00000264094.3:c.1205C>T	2.37:g.74763166G>A	ENSP00000264094:p.Ala402Val					LOXL3_ENST00000393937.2_Missense_Mutation_p.A257V|LOXL3_ENST00000409549.1_Missense_Mutation_p.A402V|LOXL3_ENST00000409986.1_Missense_Mutation_p.A257V|LOXL3_ENST00000409249.1_Intron	p.A402V	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN			7	1276	-			402			SRCR 3.		D6W5J1|Q2EHP2|Q6IPL7|Q96RS1	Missense_Mutation	SNP	ENST00000264094.3	37	c.1205C>T	CCDS1953.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.528667	0.85706	.	.	ENSG00000115318	ENST00000264094;ENST00000393937;ENST00000409549;ENST00000409986	T;T;T;T	0.36878	1.23;1.23;1.23;1.23	5.09	5.09	0.68999	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	0.000000	0.85682	D	0.000000	T	0.53318	0.1789	L	0.48877	1.53	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;0.995;0.995;0.999	D;D;D;D	0.97110	1.0;0.98;0.951;0.998	T	0.45234	-0.9275	10	0.42905	T	0.14	.	16.3805	0.83460	0.0:0.0:1.0:0.0	.	257;402;257;402	B9A025;E7END4;Q6IPL7;P58215	.;.;.;LOXL3_HUMAN	V	402;257;402;257	ENSP00000264094:A402V;ENSP00000377512:A257V;ENSP00000386696:A402V;ENSP00000386545:A257V	ENSP00000264094:A402V	A	-	2	0	LOXL3	74616674	1.000000	0.71417	0.966000	0.40874	0.757000	0.42996	5.383000	0.66219	2.806000	0.96561	0.551000	0.68910	GCC		0.552	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252215.1	NM_032603		5	162	0	0	0	1	0	5	162				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																0							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		3	93	0	0	0	1	0	3	93				
PLEC	5339	broad.mit.edu	37	8	144995013	144995013	+	Silent	SNP	G	G	T	rs375914011	byFrequency	TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr8:144995013G>T	ENST00000322810.4	-	32	9556	c.9387C>A	c.(9385-9387)atC>atA	p.I3129I	PLEC_ENST00000398774.2_Silent_p.I2960I|PLEC_ENST00000354589.3_Silent_p.I2992I|PLEC_ENST00000354958.2_Silent_p.I2970I|PLEC_ENST00000356346.3_Silent_p.I2978I|PLEC_ENST00000436759.2_Silent_p.I3019I|PLEC_ENST00000357649.2_Silent_p.I2996I|PLEC_ENST00000527096.1_Silent_p.I3015I|PLEC_ENST00000345136.3_Silent_p.I2992I	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3129	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)	p.I3019I(1)|p.I3129I(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCTCGCGGTCGATGACCCTGC	0.672																																						ENST00000322810.4																			2	Substitution - coding silent(2)	p.I3019I(1)|p.I3129I(1)	prostate(2)	NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(9385-9387)atC>atA		plectin							14.0	17.0	16.0					8																	144995013		2006	4092	6098	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144995013G>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.9387C>A	8.37:g.144995013G>T						PLEC_ENST00000398774.2_Silent_p.I2960I|PLEC_ENST00000354589.3_Silent_p.I2992I|PLEC_ENST00000527096.1_Silent_p.I3015I|PLEC_ENST00000436759.2_Silent_p.I3019I|PLEC_ENST00000354958.2_Silent_p.I2970I|PLEC_ENST00000356346.3_Silent_p.I2978I|PLEC_ENST00000345136.3_Silent_p.I2992I|PLEC_ENST00000357649.2_Silent_p.I2996I	p.I3129I	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	9556	-			3129			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.9387C>A	CCDS43772.1																																																																																				0.672	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		3	32	1	0	0.115264	1	0.123616	3	32				
NMT1	4836	broad.mit.edu	37	17	43138780	43138780	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr17:43138780A>T	ENST00000592782.1	+	2	214	c.83A>T	c.(82-84)gAg>gTg	p.E28V	DCAKD_ENST00000342350.5_5'Flank|NMT1_ENST00000258960.2_Missense_Mutation_p.E28V|DCAKD_ENST00000310604.4_5'Flank|NMT1_ENST00000590114.1_3'UTR			P30419	NMT1_HUMAN	N-myristoyltransferase 1	28					apoptotic process (GO:0006915)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)	p.E28V(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				AACGGCCATGAGCACTGCAGC	0.602																																						ENST00000592782.1																			1	Substitution - Missense(1)	p.E28V(1)	prostate(1)	breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8						c.(82-84)gAg>gTg		N-myristoyltransferase 1							79.0	65.0	69.0					17																	43138780		2203	4300	6503	SO:0001583	missense	4836				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity	g.chr17:43138780A>T		CCDS11494.1	17q21.31	2012-10-02			ENSG00000136448	ENSG00000136448			7857	protein-coding gene	gene with protein product	"""alternative, short form NMT-S"", ""myristoyl-CoA:protein N-myristoyltransferase"", ""long form, NMT-L"""	160993				1570339	Standard	NM_021079		Approved	NMT	uc002ihz.3	P30419	OTTHUMG00000180003	ENST00000592782.1:c.83A>T	17.37:g.43138780A>T	ENSP00000468424:p.Glu28Val					NMT1_ENST00000258960.2_Missense_Mutation_p.E28V|NMT1_ENST00000590114.1_3'UTR	p.E28V			P30419	NMT1_HUMAN			2	214	+		Prostate(33;0.155)	28					A8K7C1|Q9UE09	Missense_Mutation	SNP	ENST00000592782.1	37	c.83A>T	CCDS11494.1	.	.	.	.	.	.	.	.	.	.	A	17.45	3.391600	0.62066	.	.	ENSG00000136448	ENST00000258960;ENST00000543908	T;T	0.51071	0.82;0.72	5.93	5.93	0.95920	.	0.210315	0.49916	D	0.000136	T	0.28566	0.0707	N	0.08118	0	0.35717	D	0.816855	B	0.16396	0.017	B	0.13407	0.009	T	0.30794	-0.9966	10	0.66056	D	0.02	-13.7864	10.4216	0.44354	0.9272:0.0:0.0728:0.0	.	28	P30419	NMT1_HUMAN	V	28	ENSP00000258960:E28V;ENSP00000439263:E28V	ENSP00000258960:E28V	E	+	2	0	NMT1	40494306	1.000000	0.71417	0.981000	0.43875	0.983000	0.72400	2.666000	0.46799	2.281000	0.76405	0.533000	0.62120	GAG		0.602	NMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449239.1	NM_021079		3	36	0	0	0	1	0	3	36				
PARP16	54956	broad.mit.edu	37	15	65559013	65559013	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr15:65559013C>T	ENST00000261888.6	-	3	851	c.406G>A	c.(406-408)Gcc>Acc	p.A136T	PARP16_ENST00000444347.2_Intron|PARP16_ENST00000558873.1_5'UTR	NM_017851.4	NP_060321.3	Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	136	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cell death (GO:0060548)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum tubular network (GO:0071782)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)	kinase binding (GO:0019900)|NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|protein serine/threonine kinase activator activity (GO:0043539)	p.A136T(1)		kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						TAAAATTTGGCGTTGGCTGGG	0.458																																					NSCLC(50;885 1163 13509 21242 41978)	ENST00000261888.6																			1	Substitution - Missense(1)	p.A136T(1)	prostate(1)	kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						c.(406-408)Gcc>Acc		poly (ADP-ribose) polymerase family, member 16							132.0	121.0	125.0					15																	65559013		2201	4299	6500	SO:0001583	missense	54956					integral to membrane	NAD+ ADP-ribosyltransferase activity	g.chr15:65559013C>T	AK000516	CCDS10204.1	15q22.2	2010-02-16	2004-08-25	2004-08-25	ENSG00000138617	ENSG00000138617		"""Poly (ADP-ribose) polymerases"""	26040	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 30"""	C15orf30		15273990	Standard	NM_017851		Approved	FLJ20509, FLJ25281, pART15	uc002aoq.3	Q8N5Y8	OTTHUMG00000133138	ENST00000261888.6:c.406G>A	15.37:g.65559013C>T	ENSP00000261888:p.Ala136Thr					PARP16_ENST00000444347.2_Intron|PARP16_ENST00000558873.1_5'UTR	p.A136T	NM_017851.4	NP_060321.3	Q8N5Y8	PAR16_HUMAN			3	851	-			136			PARP catalytic.		Q6PK64|Q9NX03	Missense_Mutation	SNP	ENST00000261888.6	37	c.406G>A	CCDS10204.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.792235	0.50102	.	.	ENSG00000138617	ENST00000261888	T	0.13657	2.57	5.58	3.69	0.42338	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.160845	0.53938	N	0.000041	T	0.14787	0.0357	M	0.69823	2.125	0.80722	D	1	B;B	0.15473	0.011;0.013	B;B	0.17098	0.01;0.017	T	0.05649	-1.0872	10	0.19147	T	0.46	-13.0677	7.9807	0.30181	0.1312:0.7265:0.0:0.1423	.	136;136	Q8N5Y8-3;Q8N5Y8	.;PAR16_HUMAN	T	136	ENSP00000261888:A136T	ENSP00000261888:A136T	A	-	1	0	PARP16	63346066	0.301000	0.24444	0.882000	0.34594	0.986000	0.74619	0.755000	0.26405	0.706000	0.31912	0.462000	0.41574	GCC		0.458	PARP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256827.2	NM_017851		4	86	0	0	0	1	0	4	86				
OR5D16	390144	broad.mit.edu	37	11	55606429	55606429	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr11:55606429C>A	ENST00000378396.1	+	1	202	c.202C>A	c.(202-204)Ctc>Atc	p.L68I		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	68						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L68I(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				CCTCAACCACCTCTCCTTTGT	0.433																																						ENST00000378396.1																			1	Substitution - Missense(1)	p.L68I(1)	prostate(1)	cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44						c.(202-204)Ctc>Atc		olfactory receptor, family 5, subfamily D, member 16							192.0	188.0	189.0					11																	55606429		2201	4296	6497	SO:0001583	missense	390144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55606429C>A	AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"""GPCR / Class A : Olfactory receptors"""	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.202C>A	11.37:g.55606429C>A	ENSP00000367649:p.Leu68Ile						p.L68I	NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN			1	202	+		all_epithelial(135;0.208)	68					Q6IF65|Q96RB4	Missense_Mutation	SNP	ENST00000378396.1	37	c.202C>A	CCDS31512.1	.	.	.	.	.	.	.	.	.	.	.	17.13	3.309555	0.60414	.	.	ENSG00000205029	ENST00000378396	T	0.00502	6.95	4.05	1.65	0.23941	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.02848	0.0085	H	0.97962	4.115	0.24703	N	0.99324	D	0.89917	1.0	D	0.87578	0.998	T	0.19976	-1.0289	9	0.87932	D	0	-37.5826	6.2733	0.20966	0.0:0.6452:0.0:0.3548	.	68	Q8NGK9	OR5DG_HUMAN	I	68	ENSP00000367649:L68I	ENSP00000367649:L68I	L	+	1	0	OR5D16	55363005	0.000000	0.05858	0.379000	0.26080	0.974000	0.67602	-0.235000	0.09016	0.856000	0.35383	0.530000	0.56133	CTC		0.433	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496		77	475	1	0	3.1711e-36	1	3.78486e-36	77	475				
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C	rs370761877		TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	1760				P -> A (in Ref. 3; CAI56757). {ECO:0000305}.	protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)	p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308																																						ENST00000302558.3																			12	Substitution - Missense(12)	p.P1760A(12)	prostate(6)|urinary_tract(2)|endometrium(2)|kidney(2)	endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						c.(5278-5280)Cct>Gct		RANBP2-like and GRIP domain containing 8							235.0	168.0	189.0					2																	113127775		686	1558	2244	SO:0001583	missense	727851							g.chr2:113127775G>C	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"""Tetratricopeptide (TTC) repeat domain containing"""	9849	protein-coding gene	gene with protein product		602752	"""RAN binding protein 2-like 1"""	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.5278C>G	2.37:g.113127775G>C	ENSP00000306637:p.Pro1760Ala					RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	p.P1760A	NM_001164463.1	NP_001157935.1					23	5469	-								Q5CZA8	Missense_Mutation	SNP	ENST00000302558.3	37	c.5278C>G	CCDS46394.1	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.892319	0.00522	.	.	ENSG00000169629	ENST00000302558;ENST00000409750	T;T	0.36520	1.25;1.25	0.719	0.719	0.18208	.	.	.	.	.	T	0.11239	0.0274	N	0.02011	-0.69	0.58432	D	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.18650	-1.0330	9	0.10902	T	0.67	-6.3628	6.3935	0.21599	0.0:0.6881:0.3119:0.0	.	1760	O14715	RGPD8_HUMAN	A	1760;1620	ENSP00000306637:P1760A;ENSP00000386511:P1620A	ENSP00000306637:P1760A	P	-	1	0	RGPD8	112844246	0.746000	0.28272	0.842000	0.33263	0.015000	0.08874	0.243000	0.18106	-0.105000	0.12132	-1.123000	0.02005	CCT		0.308	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279		3	125	0	0	0	1	0	3	125				
PGAP3	93210	broad.mit.edu	37	17	37830251	37830251	+	Silent	SNP	G	G	A	rs147768703	byFrequency	TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr17:37830251G>A	ENST00000300658.4	-	5	644	c.552C>T	c.(550-552)tgC>tgT	p.C184C	PGAP3_ENST00000429199.2_Silent_p.C163C|PGAP3_ENST00000378011.4_Silent_p.C133C|PGAP3_ENST00000579146.1_Intron	NM_033419.3	NP_219487.3	Q96FM1	PGAP3_HUMAN	post-GPI attachment to proteins 3	184					GPI anchor biosynthetic process (GO:0006506)|GPI anchor metabolic process (GO:0006505)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	hydrolase activity, acting on ester bonds (GO:0016788)	p.C184C(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						CTCACCTGACGCAGCACAGGT	0.587													G|||	2	0.000399361	0.0	0.0014	5008	,	,		19262	0.001		0.0	False		,,,				2504	0.0					ENST00000300658.4																			1	Substitution - coding silent(1)	p.C184C(1)	prostate(1)	breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(550-552)tgC>tgT		post-GPI attachment to proteins 3		G		0,4406		0,0,2203	109.0	90.0	96.0		552	-3.0	1.0	17	dbSNP_134	96	12,8588	9.1+/-34.3	0,12,4288	no	coding-synonymous	PGAP3	NM_033419.3		0,12,6491	AA,AG,GG		0.1395,0.0,0.0923		184/321	37830251	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	93210				GPI anchor biosynthetic process	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	hydrolase activity, acting on ester bonds	g.chr17:37830251G>A	AB088396	CCDS32641.1	17q21.2	2009-06-02	2009-06-02	2009-06-02		ENSG00000161395			23719	protein-coding gene	gene with protein product	"""post-GPI attachment to proteins 3"""	611801	"""per1-like domain containing 1"""	PERLD1		15010812, 17021251, 17314402	Standard	NM_001291728		Approved	MGC9753, CAB2, PP1498, PER1	uc002hsj.3	Q96FM1		ENST00000300658.4:c.552C>T	17.37:g.37830251G>A						PGAP3_ENST00000429199.2_Silent_p.C163C|PGAP3_ENST00000579146.1_Intron|PGAP3_ENST00000378011.4_Silent_p.C133C	p.C184C	NM_033419.3	NP_219487.3	Q96FM1	PGAP3_HUMAN			5	644	-			184					B4DGK7|Q86Z03|Q8NBJ8	Silent	SNP	ENST00000300658.4	37	c.552C>T	CCDS32641.1																																																																																				0.587	PGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444825.2	NM_033419		20	36	0	0	0	1	0	20	36				
INO80	54617	broad.mit.edu	37	15	41384239	41384239	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr15:41384239T>G	ENST00000361937.3	-	5	947	c.523A>C	c.(523-525)Agt>Cgt	p.S175R	INO80_ENST00000401393.3_Missense_Mutation_p.S175R			Q9ULG1	INO80_HUMAN	INO80 complex subunit	175	Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.S175R(2)		NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TTGTCTTTACTATACTTATTT	0.373																																						ENST00000361937.3																			2	Substitution - Missense(2)	p.S175R(2)	prostate(2)	NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(523-525)Agt>Cgt		INO80 complex subunit							175.0	173.0	174.0					15																	41384239		2203	4299	6502	SO:0001583	missense	54617				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity	g.chr15:41384239T>G	AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.523A>C	15.37:g.41384239T>G	ENSP00000355205:p.Ser175Arg					INO80_ENST00000401393.3_Missense_Mutation_p.S175R	p.S175R			Q9ULG1	INO80_HUMAN			5	947	-			175			Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D.		A6H8X4|Q9NTG6	Missense_Mutation	SNP	ENST00000361937.3	37	c.523A>C	CCDS10071.1	.	.	.	.	.	.	.	.	.	.	T	10.94	1.492916	0.26774	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	D;D	0.90676	-2.71;-2.71	5.28	5.28	0.74379	.	0.139415	0.64402	D	0.000003	T	0.81607	0.4858	N	0.19112	0.55	0.32789	N	0.501386	B	0.29432	0.244	B	0.21917	0.037	T	0.82250	-0.0550	10	0.27785	T	0.31	.	11.3783	0.49741	0.0:0.0:0.1513:0.8487	.	175	Q9ULG1	INO80_HUMAN	R	175	ENSP00000355205:S175R;ENSP00000384686:S175R	ENSP00000355205:S175R	S	-	1	0	INO80	39171531	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.631000	0.54280	2.222000	0.72286	0.374000	0.22700	AGT		0.373	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553		57	184	0	0	0	1	0	57	184				
GABRP	2568	broad.mit.edu	37	5	170216165	170216165	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr5:170216165A>G	ENST00000518525.1	+	4	550	c.86A>G	c.(85-87)gAg>gGg	p.E29G	GABRP_ENST00000519598.1_Missense_Mutation_p.E29G|GABRP_ENST00000265294.4_Missense_Mutation_p.E29G|MIR4454_ENST00000518172.1_RNA|GABRP_ENST00000519385.1_Missense_Mutation_p.E29G			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	29					signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTCAACGTCGAGGTCGGCAGA	0.473																																						ENST00000518525.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29						c.(85-87)gAg>gGg		gamma-aminobutyric acid (GABA) A receptor, pi							142.0	132.0	136.0					5																	170216165		2203	4300	6503	SO:0001583	missense	2568					cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:170216165A>G	U95367	CCDS4375.1, CCDS75368.1	5q35.1	2012-06-22			ENSG00000094755	ENSG00000094755		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4089	protein-coding gene	gene with protein product	"""GABA(A) receptor, pi"""	602729				9182563	Standard	NM_014211		Approved		uc003mau.3	O00591	OTTHUMG00000130443	ENST00000518525.1:c.86A>G	5.37:g.170216165A>G	ENSP00000430100:p.Glu29Gly					GABRP_ENST00000519598.1_Missense_Mutation_p.E29G|GABRP_ENST00000519385.1_Missense_Mutation_p.E29G|GABRP_ENST00000265294.4_Missense_Mutation_p.E29G	p.E29G			O00591	GBRP_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		4	550	+	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	29					A8KA36|D3DQL2|Q32MJ1	Missense_Mutation	SNP	ENST00000518525.1	37	c.86A>G	CCDS4375.1	.	.	.	.	.	.	.	.	.	.	A	14.00	2.404381	0.42613	.	.	ENSG00000094755	ENST00000521481;ENST00000521009;ENST00000519196;ENST00000522868;ENST00000518525;ENST00000518122;ENST00000265294;ENST00000519385;ENST00000519598	T;D;T;T;T;T;T	0.87179	0.52;-2.22;0.09;-1.31;-1.31;-0.85;-1.47	5.1	3.91	0.45181	.	0.458825	0.24303	N	0.039701	T	0.70859	0.3272	N	0.08118	0	0.20489	N	0.999895	B;B	0.19817	0.039;0.016	B;B	0.19391	0.025;0.011	T	0.57619	-0.7780	10	0.30078	T	0.28	.	5.6283	0.17495	0.5534:0.1525:0.0:0.294	.	29;29	E7EWG0;O00591	.;GBRP_HUMAN	G	29	ENSP00000428804:E29G;ENSP00000428103:E29G;ENSP00000430188:E29G;ENSP00000430100:E29G;ENSP00000265294:E29G;ENSP00000430727:E29G;ENSP00000430772:E29G	ENSP00000265294:E29G	E	+	2	0	GABRP	170148743	1.000000	0.71417	0.283000	0.24790	0.357000	0.29423	2.648000	0.46647	0.859000	0.35456	0.459000	0.35465	GAG		0.473	GABRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252834.3	NM_014211		3	165	0	0	0	1	0	3	165				
FAM50B	26240	broad.mit.edu	37	6	3850735	3850735	+	Silent	SNP	C	C	T			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr6:3850735C>T	ENST00000380274.1	+	1	1116	c.690C>T	c.(688-690)gcC>gcT	p.A230A	FAM50B_ENST00000380272.3_Silent_p.A230A			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	230						nucleus (GO:0005634)		p.A230A(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				TGCGCTCCGCCGGCGTGGAGC	0.652																																						ENST00000380274.1																			1	Substitution - coding silent(1)	p.A230A(1)	prostate(1)	cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17						c.(688-690)gcC>gcT		family with sequence similarity 50, member B							53.0	50.0	51.0					6																	3850735		2203	4300	6503	SO:0001819	synonymous_variant	26240					nucleus		g.chr6:3850735C>T	Y18504	CCDS4487.1	6p25.2	2008-05-15			ENSG00000145945	ENSG00000145945			18789	protein-coding gene	gene with protein product		614686				10534398	Standard	NM_012135		Approved	D6S2654E, X5L	uc003mvu.3	Q9Y247	OTTHUMG00000014147	ENST00000380274.1:c.690C>T	6.37:g.3850735C>T						FAM50B_ENST00000380272.3_Silent_p.A230A	p.A230A			Q9Y247	FA50B_HUMAN			1	1116	+	Ovarian(93;0.0925)	all_hematologic(90;0.108)	230					Q5T2L6	Silent	SNP	ENST00000380274.1	37	c.690C>T	CCDS4487.1																																																																																				0.652	FAM50B-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039693.1	NM_012135		3	66	0	0	0	1	0	3	66				
TRPM6	140803	broad.mit.edu	37	9	77448986	77448986	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr9:77448986C>A	ENST00000360774.1	-	6	834	c.597G>T	c.(595-597)ttG>ttT	p.L199F	TRPM6_ENST00000359047.2_Missense_Mutation_p.L199F|TRPM6_ENST00000376871.3_Missense_Mutation_p.L199F|TRPM6_ENST00000376864.4_Missense_Mutation_p.L199F|TRPM6_ENST00000361255.3_Missense_Mutation_p.L194F|TRPM6_ENST00000449912.2_Missense_Mutation_p.L194F|TRPM6_ENST00000451710.3_Missense_Mutation_p.L199F|TRPM6_ENST00000483186.1_5'Flank|TRPM6_ENST00000376872.3_Missense_Mutation_p.L199F	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	199					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						AGATTTTTCTCAAGGAATGAG	0.403																																						ENST00000451710.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(595-597)ttG>ttT		transient receptor potential cation channel, subfamily M, member 6							135.0	125.0	128.0					9																	77448986		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77448986C>A	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.597G>T	9.37:g.77448986C>A	ENSP00000354006:p.Leu199Phe					TRPM6_ENST00000360774.1_Missense_Mutation_p.L199F|TRPM6_ENST00000359047.2_Missense_Mutation_p.L199F|TRPM6_ENST00000376864.4_Missense_Mutation_p.L199F|TRPM6_ENST00000449912.2_Missense_Mutation_p.L194F|TRPM6_ENST00000376871.3_Missense_Mutation_p.L199F|TRPM6_ENST00000376872.3_Missense_Mutation_p.L199F|TRPM6_ENST00000361255.3_Missense_Mutation_p.L194F	p.L199F			Q9BX84	TRPM6_HUMAN			6	834	-			199					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.597G>T	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.426378	0.62733	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376870;ENST00000376864;ENST00000359047	T;T;T;T;T;T;T;T	0.62639	4.07;4.07;0.01;0.01;4.07;4.07;4.07;0.01	5.69	4.74	0.60224	.	0.066774	0.64402	D	0.000008	T	0.73931	0.3650	M	0.62723	1.935	0.42234	D	0.9919	D;D;D;D;P;P	0.76494	0.999;0.999;0.999;0.993;0.76;0.931	D;D;D;P;B;P	0.67548	0.952;0.952;0.952;0.863;0.379;0.789	T	0.76231	-0.3035	10	0.72032	D	0.01	.	12.6224	0.56610	0.0:0.799:0.1296:0.0713	.	199;199;199;199;199;194	Q9BX84-7;Q9BX84-6;Q9BX84-5;Q96LV9;Q9BX84;Q9BX84-3	.;.;.;.;TRPM6_HUMAN;.	F	199;199;199;199;194;194;198;199;199	ENSP00000354006:L199F;ENSP00000407341:L199F;ENSP00000366068:L199F;ENSP00000366067:L199F;ENSP00000396672:L194F;ENSP00000354962:L194F;ENSP00000366060:L199F;ENSP00000351942:L199F	ENSP00000351942:L199F	L	-	3	2	TRPM6	76638806	0.032000	0.19561	1.000000	0.80357	0.985000	0.73830	0.899000	0.28417	2.692000	0.91855	0.491000	0.48974	TTG		0.403	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		4	190	1	0	0.184627	1	0.192428	4	190				
SLC1A6	6511	broad.mit.edu	37	19	15067354	15067354	+	Missense_Mutation	SNP	C	C	T	rs188504788	byFrequency	TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr19:15067354C>T	ENST00000221742.3	-	6	1110	c.1103G>A	c.(1102-1104)cGg>cAg	p.R368Q	SLC1A6_ENST00000600144.1_Intron|SLC1A6_ENST00000430939.2_Missense_Mutation_p.R304Q	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	368					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.R368Q(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						GAAGGGGTTCCGGTGAGTGAC	0.607													N|||	3	0.000599042	0.0	0.0	5008	,	,		20247	0.0		0.003	False		,,,				2504	0.0					ENST00000430939.2																			1	Substitution - Missense(1)	p.R368Q(1)	prostate(1)	breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						c.(910-912)cGg>cAg		solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	L-Glutamic Acid(DB00142)						164.0	126.0	139.0					19																	15067354		2203	4300	6503	SO:0001583	missense	6511				synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr19:15067354C>T		CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"""Solute carriers"""	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.1103G>A	19.37:g.15067354C>T	ENSP00000221742:p.Arg368Gln					SLC1A6_ENST00000600144.1_Intron|SLC1A6_ENST00000221742.3_Missense_Mutation_p.R368Q	p.R304Q			P48664	EAA4_HUMAN			6	1040	-			368					Q8N753	Missense_Mutation	SNP	ENST00000221742.3	37	c.911G>A	CCDS12321.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	c	17.34	3.365056	0.61513	.	.	ENSG00000105143	ENST00000430939;ENST00000221742	T;T	0.59364	0.27;0.27	3.96	2.92	0.33932	.	0.217737	0.46442	D	0.000300	T	0.45216	0.1331	L	0.41710	1.295	0.80722	D	1	P;B	0.36282	0.546;0.169	B;B	0.38803	0.282;0.017	T	0.50127	-0.8864	10	0.72032	D	0.01	-12.7596	5.41	0.16342	0.0:0.7728:0.0:0.2272	.	304;368	E7EV13;P48664	.;EAA4_HUMAN	Q	304;368	ENSP00000409386:R304Q;ENSP00000221742:R368Q	ENSP00000221742:R368Q	R	-	2	0	SLC1A6	14928354	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.110000	0.50352	2.225000	0.72522	0.591000	0.81541	CGG		0.607	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071		3	59	0	0	0	1	0	3	59				
PIKFYVE	200576	broad.mit.edu	37	2	209212747	209212747	+	Splice_Site	SNP	G	G	A			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr2:209212747G>A	ENST00000264380.4	+	35	5532	c.5374G>A	c.(5374-5376)Gat>Aat	p.D1792N		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1792	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)	p.D1792N(2)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TGAGCCTCAAGGTGTGTTAAA	0.408																																						ENST00000264380.4																			2	Substitution - Missense(2)	p.D1792N(2)	prostate(2)	NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						c.e35+1		phosphoinositide kinase, FYVE finger containing							103.0	101.0	102.0					2																	209212747		2203	4300	6503	SO:0001630	splice_region_variant	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209212747G>A	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.5374+1G>A	2.37:g.209212747G>A							p.D1792_splice	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN			35	5532	+			1792			PIPK.		Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Splice_Site	SNP	ENST00000264380.4	37	c.5374_splice	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.542378	0.65198	.	.	ENSG00000115020	ENST00000264380	T	0.29655	1.56	5.58	5.58	0.84498	Phosphatidylinositol-4-phosphate 5-kinase, core (1);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.206161	0.50627	D	0.000101	T	0.25269	0.0614	L	0.27053	0.805	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.04440	-1.0951	10	0.21014	T	0.42	-19.5415	19.5735	0.95432	0.0:0.0:1.0:0.0	.	1792	Q9Y2I7	FYV1_HUMAN	N	1792	ENSP00000264380:D1792N	ENSP00000264380:D1792N	D	+	1	0	PIKFYVE	208920992	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	7.235000	0.78143	2.636000	0.89361	0.655000	0.94253	GAT		0.408	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040	Missense_Mutation	5	172	0	0	0	1	0	5	172				
HBG2	3048	broad.mit.edu	37	11	5275542	5275542	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr11:5275542C>T	ENST00000380259.2	-	7	1535	c.295G>A	c.(295-297)Gtg>Atg	p.V99M	HBG2_ENST00000380252.1_Missense_Mutation_p.V89M|HBG2_ENST00000336906.4_Missense_Mutation_p.V99M			P69892	HBG2_HUMAN	hemoglobin, gamma G	99					blood coagulation (GO:0007596)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)	p.V99M(1)		endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCAGGATCCACATGCAGCTTG	0.498																																						ENST00000380259.2																			1	Substitution - Missense(1)	p.V99M(1)	prostate(1)	endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13						c.(295-297)Gtg>Atg		hemoglobin, gamma G							166.0	129.0	141.0					11																	5275542		2201	4296	6497	SO:0001583	missense	3048							g.chr11:5275542C>T	BC029387	CCDS7755.1	11p15.5	2014-05-19			ENSG00000196565	ENSG00000196565			4832	protein-coding gene	gene with protein product		142250				2649166	Standard	NM_000184		Approved	HBG-T1		P69892	OTTHUMG00000066673	ENST00000380259.2:c.295G>A	11.37:g.5275542C>T	ENSP00000369609:p.Val99Met					HBG2_ENST00000336906.4_Missense_Mutation_p.V99M|HBG2_ENST00000380252.1_Missense_Mutation_p.V89M	p.V99M						Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	7	1535	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)						A8MZE0|P02096|P62027|Q14491|Q68NH9|Q96FH6|Q96FH7	Missense_Mutation	SNP	ENST00000380259.2	37	c.295G>A	CCDS7755.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808955	0.70797	.	.	ENSG00000196565	ENST00000380252;ENST00000380259;ENST00000336906;ENST00000380247	D;D;D	0.96940	-4.18;-4.18;-4.18	3.41	2.46	0.29980	Globin-like (2);Globin, structural domain (2);	0.071029	0.56097	U	0.000034	D	0.98150	0.9389	M	0.92367	3.3	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.79784	0.989;0.993	D	0.98198	1.0466	10	0.87932	D	0	.	10.6932	0.45884	0.0:0.8991:0.0:0.1009	.	99;99	P69892;P69891	HBG2_HUMAN;HBG1_HUMAN	M	89;99;99;99	ENSP00000369602:V89M;ENSP00000369609:V99M;ENSP00000338082:V99M	ENSP00000338082:V99M	V	-	1	0	HBG2	5232118	1.000000	0.71417	0.852000	0.33557	0.981000	0.71138	5.473000	0.66774	0.956000	0.37904	0.650000	0.86243	GTG		0.498	HBG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142967.2	NM_000184		46	276	0	0	0	1	0	46	276				
TMEM258	746	broad.mit.edu	37	11	61563030	61563030	+	5'Flank	SNP	G	G	A			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr11:61563030G>A	ENST00000537328.1	-	0	0				MIR611_ENST00000384869.1_RNA|FADS2_ENST00000574708.1_Intron|TMEM258_ENST00000543510.1_5'Flank|FEN1_ENST00000305885.2_Missense_Mutation_p.G66D	NM_014206.3	NP_055021.1	P61165	TM258_HUMAN	transmembrane protein 258							integral component of membrane (GO:0016021)											CACCTGATGGGCATGTTCTAC	0.542																																						ENST00000305885.2																			0				endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						c.(196-198)gGc>gAc	Editing and processing nucleases	flap structure-specific endonuclease 1							94.0	82.0	86.0					11																	61563030		2202	4299	6501	SO:0001631	upstream_gene_variant	2237				base-excision repair|DNA replication, removal of RNA primer|double-strand break repair|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|UV protection	mitochondrion|nucleolus|nucleoplasm	5'-3' exonuclease activity|5'-flap endonuclease activity|damaged DNA binding|double-stranded DNA binding|double-stranded DNA specific exodeoxyribonuclease activity|metal ion binding|protein binding|ribonuclease H activity	g.chr11:61563030G>A		CCDS8009.1	11q12.2	2012-12-03	2012-12-03	2012-12-03	ENSG00000134825	ENSG00000134825			1164	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 10"""	C11orf10		12427278	Standard	NM_014206		Approved		uc001nsf.3	P61165	OTTHUMG00000168172		11.37:g.61563030G>A	Exception_encountered					FADS2_ENST00000574708.1_Intron	p.G66D	NM_004111.5	NP_004102.1	P39748	FEN1_HUMAN			2	610	+			66			N-domain.		A8K6L8|Q9D953|Q9Y2Q7	Missense_Mutation	SNP	ENST00000537328.1	37	c.197G>A	CCDS8009.1	.	.	.	.	.	.	.	.	.	.	G	19.41	3.822793	0.71028	.	.	ENSG00000168496	ENST00000305885;ENST00000535723	T;T	0.52983	0.64;0.64	5.44	5.44	0.79542	XPG N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.83225	0.5208	H	0.99336	4.52	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90227	0.4276	10	0.87932	D	0	-24.1451	19.6661	0.95893	0.0:0.0:1.0:0.0	.	66	P39748	FEN1_HUMAN	D	66	ENSP00000305480:G66D;ENSP00000445692:G66D	ENSP00000305480:G66D	G	+	2	0	FEN1	61319606	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.348000	0.97062	2.724000	0.93272	0.561000	0.74099	GGC		0.542	TMEM258-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398577.1	NM_014206		4	118	0	0	0	1	0	4	118				
HCG22	285834	broad.mit.edu	37	6	31023076	31023078	+	lincRNA	DEL	GAG	GAG	-			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr6:31023076_31023078delGAG	ENST00000426185.1	+	0	310					NR_003948.2		E2RYF7	PBMU2_HUMAN	HLA complex group 22							extracellular region (GO:0005576)											aaaaaaaaaaGAGAGAGAGAGAG	0.478																																						ENST00000426185.1																			0																																																			0							g.chr6:31023076_31023078delGAG	AK094433		6p21.32	2013-12-20	2013-12-20		ENSG00000228789	ENSG00000228789		"""Long non-coding RNAs"""	27780	protein-coding gene	gene with protein product	"""panbronchiolitis related mucin-like 2"""	613918	"""HLA complex group 22 (non-protein coding)"""			14702039	Standard	NR_003948		Approved	FLJ37114, PBMUCL2	uc003nsj.2	E2RYF7	OTTHUMG00000031179		6.37:g.31023076_31023078delGAG								NR_003948.2						0	310	+									RNA	DEL	ENST00000426185.1	37																																																																																						0.478	HCG22-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000076351.4	NR_003948		5	4						5	4	---	---	---	---
NKX3-1	4824	broad.mit.edu	37	8	23539135	23539135	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr8:23539135delA	ENST00000380871.4	-	2	341	c.304delT	c.(304-306)tatfs	p.Y102fs	NKX3-1_ENST00000523261.1_Frame_Shift_Del_p.Y27fs	NM_006167.3	NP_006158.2	Q99801	NKX31_HUMAN	NK3 homeobox 1	102					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|androgen receptor signaling pathway (GO:0030521)|branching involved in prostate gland morphogenesis (GO:0060442)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to drug (GO:0035690)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to steroid hormone stimulus (GO:0071383)|cellular response to tumor necrosis factor (GO:0071356)|dorsal aorta development (GO:0035907)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|heart development (GO:0007507)|male gonad development (GO:0008584)|metanephros development (GO:0001656)|mitotic cell cycle arrest (GO:0071850)|multicellular organismal development (GO:0007275)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of estrogen receptor binding (GO:0071899)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of transcription, DNA-templated (GO:0045892)|pharyngeal system development (GO:0060037)|positive regulation of androgen secretion (GO:2000836)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell death (GO:0010942)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of gene expression (GO:0010628)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein kinase B signaling (GO:0043491)|regulation of transcription, DNA-templated (GO:0006355)|response to testosterone (GO:0033574)|salivary gland development (GO:0007431)|somitogenesis (GO:0001756)|steroid hormone mediated signaling pathway (GO:0043401)	intracellular (GO:0005622)|nucleus (GO:0005634)	androgen receptor activity (GO:0004882)|core promoter binding (GO:0001047)|estrogen receptor activity (GO:0030284)|estrogen receptor binding (GO:0030331)|histone deacetylase binding (GO:0042826)|protein kinase activator activity (GO:0030295)|protein self-association (GO:0043621)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			large_intestine(3)|lung(4)|prostate(5)|skin(2)	14		Prostate(55;0.114)		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)		TCCAACAGATAAGACCCCAAG	0.527																																						ENST00000380871.4																			0				large_intestine(3)|lung(4)|prostate(5)|skin(2)	14						c.(304-306)atfs		NK3 homeobox 1							57.0	63.0	61.0					8																	23539135		2203	4300	6503	SO:0001589	frameshift_variant	4824				negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter	nucleus	estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding	g.chr8:23539135delA		CCDS6042.1, CCDS59095.1	8p21.2	2012-03-09	2007-07-09	2002-10-04	ENSG00000167034	ENSG00000167034		"""Homeoboxes / ANTP class : NKL subclass"""	7838	protein-coding gene	gene with protein product		602041	"""NK homeobox (Drosophila), family 3, A"", ""NK3 transcription factor related, locus 1 (Drosophila)"""	NKX3A		9226374	Standard	NM_006167		Approved	NKX3.1, BAPX2	uc011kzx.2	Q99801	OTTHUMG00000097851	ENST00000380871.4:c.304delT	8.37:g.23539135delA	ENSP00000370253:p.Tyr102fs					NKX3-1_ENST00000523261.1_Frame_Shift_Del_p.Y27fs	p.Y102fs	NM_006167.3	NP_006158.2	Q99801	NKX31_HUMAN		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)	2	341	-		Prostate(55;0.114)	102					O15465|Q9H2P4|Q9H2P5|Q9H2P6|Q9H2P7|Q9HBG0	Frame_Shift_Del	DEL	ENST00000380871.4	37	c.304delT	CCDS6042.1																																																																																				0.527	NKX3-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215141.2			55	178						55	178	---	---	---	---
ZNF395	55893	broad.mit.edu	37	8	28209153	28209154	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr8:28209153_28209154insA	ENST00000344423.5	-	7	1222_1223	c.1091_1092insT	c.(1090-1092)ctgfs	p.L364fs	ZNF395_ENST00000523202.1_Frame_Shift_Ins_p.L364fs|ZNF395_ENST00000523095.1_Frame_Shift_Ins_p.L364fs	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	364					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		GAAGAGCAGACAGAGGCAGGCC	0.663																																						ENST00000344423.5																			0				cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1090-1092)ctcfs		zinc finger protein 395																																				SO:0001589	frameshift_variant	55893				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr8:28209153_28209154insA	AB044750	CCDS6067.1	8p21	2008-05-02			ENSG00000186918	ENSG00000186918		"""Zinc fingers, C2H2-type"""	18737	protein-coding gene	gene with protein product		609494				14625278	Standard	NM_018660		Approved	PRF-1, HDBP2, PBF, DKFZp434K1210	uc003xgr.3	Q9H8N7	OTTHUMG00000102137	ENST00000344423.5:c.1092dupT	8.37:g.28209154_28209154dupA	ENSP00000340494:p.Leu364fs					ZNF395_ENST00000523202.1_Frame_Shift_Ins_p.L364fs|ZNF395_ENST00000523095.1_Frame_Shift_Ins_p.L364fs	p.L364fs	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)	7	1222_1223	-		Ovarian(32;2.06e-05)	364					B3KUY7|D3DST4|Q6F6H2|Q9BY72|Q9NPB2|Q9NS57|Q9NS58|Q9NS59	Frame_Shift_Ins	INS	ENST00000344423.5	37	c.1091_1092insT	CCDS6067.1																																																																																				0.663	ZNF395-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219976.1			13	257						13	257	---	---	---	---
TCTN2	79867	broad.mit.edu	37	12	124171487	124171488	+	Frame_Shift_Ins	INS	-	-	ACGAC	rs199981419		TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr12:124171487_124171488insACGAC	ENST00000303372.5	+	6	797_798	c.669_670insACGAC	c.(670-672)acgfs	p.T224fs	TCTN2_ENST00000426174.2_Frame_Shift_Ins_p.T223fs	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	224					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		CTGCTGGGACGACGACACGTGG	0.525																																						ENST00000303372.5																			0				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(667-672)accgacfs		tectonic family member 2																																				SO:0001589	frameshift_variant	79867				cilium assembly|smoothened signaling pathway	integral to membrane		g.chr12:124171487_124171488insACGAC	AK056924	CCDS9253.1, CCDS45007.1	12q24.31	2011-04-12	2007-08-20	2007-08-20	ENSG00000168778	ENSG00000168778		"""Tectonic proteins"""	25774	protein-coding gene	gene with protein product	"""Meckel syndrome, type 8"""	613846	"""chromosome 12 open reading frame 38"""	C12orf38		21462283	Standard	NM_024809		Approved	FLJ12975, TECT2, MKS8	uc001ufp.3	Q96GX1	OTTHUMG00000168700	ENST00000303372.5:c.670_674dupACGAC	12.37:g.124171488_124171492dupACGAC	ENSP00000304941:p.Thr224fs					TCTN2_ENST00000426174.2_Frame_Shift_Ins_p.D223fs	p.D224fs	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)	6	797_798	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		224					A8K7Y8|B3KPW5|Q9H966	Frame_Shift_Ins	INS	ENST00000303372.5	37	c.669_670insACGAC	CCDS9253.1																																																																																				0.525	TCTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400652.1	NM_024809		7	798						7	798	---	---	---	---
