#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
OTUD7A	161725	broad.mit.edu	37	15	31779437	31779437	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A3SY-01A-11D-A22Z-08	TCGA-EM-A3SY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4f242f0-59bd-4b86-b0a0-0431a3d0d910	0b976d62-807e-4c82-841d-44273272d2fb	g.chr15:31779437T>C	ENST00000307050.4	-	10	1402	c.1310A>G	c.(1309-1311)tAc>tGc	p.Y437C	OTUD7A_ENST00000382902.1_Missense_Mutation_p.Y444C	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	437	Catalytic. {ECO:0000250}.				protein K11-linked deubiquitination (GO:0035871)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		CACGTTCATGTAGCTGTGCAG	0.567																																						ENST00000382902.1																			0				endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						c.(1330-1332)tAc>tGc		OTU domain containing 7A							131.0	102.0	112.0					15																	31779437		2202	4300	6502	SO:0001583	missense	161725					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding	g.chr15:31779437T>C	AJ430383	CCDS10026.1	15q13.1	2014-02-24	2014-02-24	2006-07-07	ENSG00000169918	ENSG00000169918		"""OTU domain containing"""	20718	protein-coding gene	gene with protein product		612024	"""chromosome 15 open reading frame 16"", ""OTU domain containing 7"", ""OTU domain containing 7A"""	C15orf16, OTUD7		23827681	Standard	NM_130901		Approved	CEZANNE2	uc001zfq.3	Q8TE49	OTTHUMG00000129275	ENST00000307050.4:c.1310A>G	15.37:g.31779437T>C	ENSP00000305926:p.Tyr437Cys					OTUD7A_ENST00000307050.4_Missense_Mutation_p.Y437C	p.Y444C			Q8TE49	OTU7A_HUMAN		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)	10	1423	-		all_lung(180;1.6e-09)	437			Catalytic (By similarity).		Q8IWK5	Missense_Mutation	SNP	ENST00000307050.4	37	c.1331A>G	CCDS10026.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.124480	0.77436	.	.	ENSG00000169918	ENST00000307050;ENST00000382902	T;T	0.55588	0.52;0.51	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.73110	0.3545	M	0.79926	2.475	0.53688	D	0.99997	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.78135	-0.2322	10	0.87932	D	0	-27.3446	14.293	0.66292	0.0:0.0:0.0:1.0	.	444;437	Q8TE49-2;Q8TE49	.;OTU7A_HUMAN	C	437;444	ENSP00000305926:Y437C;ENSP00000372358:Y444C	ENSP00000305926:Y437C	Y	-	2	0	OTUD7A	29566729	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	5.500000	0.66943	1.814000	0.52955	0.459000	0.35465	TAC		0.567	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251393.2	NM_130901		3	35	0	0	0	1	0	3	35				
PLA2G6	8398	broad.mit.edu	37	22	38531030	38531030	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3SY-01A-11D-A22Z-08	TCGA-EM-A3SY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4f242f0-59bd-4b86-b0a0-0431a3d0d910	0b976d62-807e-4c82-841d-44273272d2fb	g.chr22:38531030C>T	ENST00000332509.3	-	6	1042	c.859G>A	c.(859-861)Gga>Aga	p.G287R	PLA2G6_ENST00000335539.3_Missense_Mutation_p.G287R|PLA2G6_ENST00000402064.1_Missense_Mutation_p.G287R	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	287					cardiolipin acyl-chain remodeling (GO:0035965)|cardiolipin biosynthetic process (GO:0032049)|cell death (GO:0008219)|chemotaxis (GO:0006935)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of exocytosis (GO:0045921)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of vasodilation (GO:0045909)|regulation of store-operated calcium channel activity (GO:1901339)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|urinary bladder smooth muscle contraction (GO:0014832)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipase A2 activity (GO:0004623)			breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	GGGCTGGCTCCGTAACGGGGG	0.662																																						ENST00000332509.3																			0				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24						c.(859-861)Gga>Aga		phospholipase A2, group VI (cytosolic, calcium-independent)	Quinacrine(DB01103)						55.0	56.0	56.0					22																	38531030		2203	4300	6503	SO:0001583	missense	8398				cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane		g.chr22:38531030C>T	AF064594	CCDS13967.1, CCDS33645.1	22q13.1	2013-01-10			ENSG00000184381	ENSG00000184381	3.1.1.4	"""Patatin-like phospholipase domain containing"", ""Parkinson disease"", ""Ankyrin repeat domain containing"""	9039	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 2"""	603604				9417066, 16799181, 19029121	Standard	NM_001199562		Approved	iPLA2, PNPLA9, PARK14, iPLA2beta, NBIA2	uc003aux.1	O60733	OTTHUMG00000151246	ENST00000332509.3:c.859G>A	22.37:g.38531030C>T	ENSP00000333142:p.Gly287Arg					PLA2G6_ENST00000335539.3_Missense_Mutation_p.G287R|PLA2G6_ENST00000402064.1_Missense_Mutation_p.G287R	p.G287R	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN			6	1042	-	Melanoma(58;0.045)		287					A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	Missense_Mutation	SNP	ENST00000332509.3	37	c.859G>A	CCDS13967.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.821662	0.90873	.	.	ENSG00000184381	ENST00000332509;ENST00000419848;ENST00000335539;ENST00000402064;ENST00000335538;ENST00000396860;ENST00000451461	T;T;T	0.59772	0.24;0.24;0.24	5.67	5.67	0.87782	Ankyrin repeat-containing domain (3);	0.154883	0.64402	D	0.000018	T	0.77980	0.4212	M	0.85041	2.73	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.70935	0.962;0.884;0.971	T	0.81254	-0.1016	10	0.87932	D	0	-11.6042	15.2807	0.73781	0.0:0.8604:0.1396:0.0	.	252;287;287	B7Z6K3;O60733-2;O60733	.;.;PA2G6_HUMAN	R	287;148;287;287;215;287;252	ENSP00000333142:G287R;ENSP00000335149:G287R;ENSP00000386100:G287R	ENSP00000333142:G287R	G	-	1	0	PLA2G6	36860976	0.994000	0.37717	0.985000	0.45067	0.948000	0.59901	4.085000	0.57657	2.667000	0.90743	0.561000	0.74099	GGA		0.662	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321860.1	NM_001004426		5	36	0	0	0	1	0	5	36				
LYST	1130	broad.mit.edu	37	1	235955049	235955049	+	Missense_Mutation	SNP	T	T	A			TCGA-EM-A3SY-01A-11D-A22Z-08	TCGA-EM-A3SY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4f242f0-59bd-4b86-b0a0-0431a3d0d910	0b976d62-807e-4c82-841d-44273272d2fb	g.chr1:235955049T>A	ENST00000389794.3	-	12	4667	c.4493A>T	c.(4492-4494)aAg>aTg	p.K1498M	LYST_ENST00000536965.1_Intron|LYST_ENST00000389793.2_Missense_Mutation_p.K1498M			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1498					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GTTTCTTTTCTTTATCTTCTT	0.363																																						ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(4492-4494)aAg>aTg		lysosomal trafficking regulator							152.0	149.0	150.0					1																	235955049		2203	4300	6503	SO:0001583	missense	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235955049T>A	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.4493A>T	1.37:g.235955049T>A	ENSP00000374444:p.Lys1498Met					LYST_ENST00000389793.2_Missense_Mutation_p.K1498M|LYST_ENST00000536965.1_Intron	p.K1498M			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		12	4667	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	1498					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.4493A>T	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	T	17.39	3.376735	0.61735	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.64260	-0.09;-0.09	5.76	-0.443	0.12249	.	0.670270	0.16884	N	0.195569	T	0.68833	0.3044	M	0.62723	1.935	0.80722	D	1	D;D	0.69078	0.997;0.98	P;P	0.59761	0.863;0.737	T	0.69109	-0.5232	10	0.72032	D	0.01	.	10.1137	0.42579	0.0:0.3253:0.0:0.6747	.	1498;1498	Q99698-3;Q99698	.;LYST_HUMAN	M	1498	ENSP00000374444:K1498M;ENSP00000374443:K1498M	ENSP00000374443:K1498M	K	-	2	0	LYST	234021672	1.000000	0.71417	0.645000	0.29479	0.587000	0.36485	2.309000	0.43699	-0.036000	0.13669	0.528000	0.53228	AAG		0.363	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			9	43	0	0	0	1	0	9	43				
CTAGE5	4253	broad.mit.edu	37	14	39818117	39818117	+	Missense_Mutation	SNP	T	T	G			TCGA-EM-A3SY-01A-11D-A22Z-08	TCGA-EM-A3SY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4f242f0-59bd-4b86-b0a0-0431a3d0d910	0b976d62-807e-4c82-841d-44273272d2fb	g.chr14:39818117T>G	ENST00000280083.3	+	23	2498	c.2184T>G	c.(2182-2184)ttT>ttG	p.F728L	CTAGE5_ENST00000553383.1_3'UTR|CTAGE5_ENST00000557038.1_Missense_Mutation_p.F648L|CTAGE5_ENST00000341502.5_Missense_Mutation_p.F728L|RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.F1263L|CTAGE5_ENST00000553352.1_Missense_Mutation_p.F699L|CTAGE5_ENST00000556148.1_Missense_Mutation_p.F653L|CTAGE5_ENST00000396165.4_Missense_Mutation_p.F699L|CTAGE5_ENST00000396158.2_Missense_Mutation_p.F733L|CTAGE5_ENST00000348007.3_Missense_Mutation_p.F685L|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.F699L|CTAGE5_ENST00000341749.3_Missense_Mutation_p.F716L			O15320	CTGE5_HUMAN	CTAGE family, member 5	728	Pro-rich.				positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		GAGCCATGTTTGGAGCTTCTC	0.468																																						ENST00000553728.1																			0											c.(3787-3789)ttT>ttG									87.0	94.0	92.0					14																	39818117		2203	4300	6503	SO:0001583	missense	0							g.chr14:39818117T>G	U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"""meningioma expressed antigen 6 (coiled-coil proline-rich)"""	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.2184T>G	14.37:g.39818117T>G	ENSP00000280083:p.Phe728Leu					CTAGE5_ENST00000348007.3_Missense_Mutation_p.F685L|CTAGE5_ENST00000341502.5_Missense_Mutation_p.F728L|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.F699L|CTAGE5_ENST00000396158.2_Missense_Mutation_p.F733L|CTAGE5_ENST00000553383.1_3'UTR|CTAGE5_ENST00000556148.1_Missense_Mutation_p.F653L|CTAGE5_ENST00000557038.1_Missense_Mutation_p.F648L|CTAGE5_ENST00000396165.4_Missense_Mutation_p.F699L|CTAGE5_ENST00000553352.1_Missense_Mutation_p.F699L|CTAGE5_ENST00000341749.3_Missense_Mutation_p.F716L|CTAGE5_ENST00000280083.3_Missense_Mutation_p.F728L	p.F1263L							27	4002	+								B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Missense_Mutation	SNP	ENST00000280083.3	37	c.3789T>G	CCDS9674.1	.	.	.	.	.	.	.	.	.	.	T	9.961	1.222934	0.22457	.	.	ENSG00000258941;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527	ENST00000553728;ENST00000341749;ENST00000557038;ENST00000396165;ENST00000341502;ENST00000396158;ENST00000280083;ENST00000556148;ENST00000348007;ENST00000553352	T;T;T;T;T;T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55	5.52	-0.884	0.10597	.	0.275573	0.19542	N	0.111771	T	0.43722	0.1260	L	0.55481	1.735	0.20873	N	0.999833	B;B;B;B;B	0.28233	0.204;0.167;0.204;0.167;0.091	B;B;B;B;B	0.30401	0.115;0.085;0.115;0.053;0.073	T	0.35051	-0.9804	9	.	.	.	.	10.325	0.43787	0.0:0.4572:0.0:0.5428	.	733;685;728;656;716	O15320-5;O15320-2;O15320;O15320-7;G3XAC5	.;.;CTGE5_HUMAN;.;.	L	1263;716;648;699;728;733;728;653;685;699	ENSP00000452252:F1263L;ENSP00000343897:F716L;ENSP00000450869:F648L;ENSP00000379468:F699L;ENSP00000339286:F728L;ENSP00000379462:F733L;ENSP00000280083:F728L;ENSP00000452562:F653L;ENSP00000343912:F685L;ENSP00000450449:F699L	.	F	+	3	2	CTAGE5;RP11-407N17.3	38887868	0.998000	0.40836	0.142000	0.22268	0.039000	0.13416	0.188000	0.17018	-0.156000	0.11079	0.533000	0.62120	TTT		0.468	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276771.2	NM_005930		4	80	0	0	0	1	0	4	80				
FRG1B	284802	broad.mit.edu	37	20	29625956	29625956	+	Missense_Mutation	SNP	G	G	A	rs147809085		TCGA-EM-A3SY-01A-11D-A22Z-08	TCGA-EM-A3SY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4f242f0-59bd-4b86-b0a0-0431a3d0d910	0b976d62-807e-4c82-841d-44273272d2fb	g.chr20:29625956G>A	ENST00000278882.3	+	5	580	c.200G>A	c.(199-201)aGa>aAa	p.R67K	FRG1B_ENST00000358464.4_Missense_Mutation_p.R67K|FRG1B_ENST00000439954.2_Missense_Mutation_p.R72K			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	67								p.R67K(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATTGGACCAAGAGAACAATGG	0.338																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.R67K(2)	kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(199-201)aGa>aAa																																						SO:0001583	missense	0							g.chr20:29625956G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.200G>A	20.37:g.29625956G>A	ENSP00000278882:p.Arg67Lys					FRG1B_ENST00000358464.4_Missense_Mutation_p.R67K|FRG1B_ENST00000439954.2_Missense_Mutation_p.R72K	p.R67K							5	580	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.200G>A		.	.	.	.	.	.	.	.	.	.	g	9.648	1.140706	0.21205	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.46063	0.88	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.27241	0.0668	.	.	.	0.46901	D	0.99924	B	0.02656	0.0	B	0.15484	0.013	T	0.07986	-1.0744	9	0.28530	T	0.3	.	9.3557	0.38164	0.0:0.0:1.0:0.0	.	72	F5H5R5	.	K	67;72;67	ENSP00000408863:R72K	ENSP00000278882:R67K	R	+	2	0	FRG1B	28239617	1.000000	0.71417	1.000000	0.80357	0.134000	0.20937	6.360000	0.73064	1.250000	0.43966	0.184000	0.17185	AGA		0.338	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	71	0	0	0	1	0	4	71				
TVP23C	201158	broad.mit.edu	37	17	15441469	15441469	+	Intron	SNP	C	C	T	rs568909748	byFrequency	TCGA-EM-A3SY-01A-11D-A22Z-08	TCGA-EM-A3SY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4f242f0-59bd-4b86-b0a0-0431a3d0d910	0b976d62-807e-4c82-841d-44273272d2fb	g.chr17:15441469C>T	ENST00000225576.3	-	5	558				TVP23C_ENST00000583206.1_5'Flank|TVP23C_ENST00000584811.1_Splice_Site|TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000519970.1_Intron|TVP23C-CDRT4_ENST00000522212.2_Intron	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)							integral component of membrane (GO:0016021)											TCCAGTGTTCCGCAAAAGACA	0.393													c|||	3	0.000599042	0.0015	0.0	5008	,	,		17476	0.001		0.0	False		,,,				2504	0.0					ENST00000584811.1																			0											c.e7-2		trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)																																				SO:0001627	intron_variant	201158							g.chr17:15441469C>T	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B2"""	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.462+7629G>A	17.37:g.15441469C>T						TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000225576.3_Intron								7	1815	-								Q3LIC7	Splice_Site	SNP	ENST00000225576.3	37		CCDS11170.1	.	.	.	.	.	.	.	.	.	.	c	13.58	2.280351	0.40294	.	.	ENSG00000175106	ENST00000438826	.	.	.	4.5	4.5	0.54988	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.0583	0.25111	0.0:0.1033:0.0:0.8967	.	.	.	.	.	-1	.	.	.	-	.	.	FAM18B2	15382194	1.000000	0.71417	0.996000	0.52242	0.698000	0.40448	1.919000	0.40015	0.852000	0.35287	-0.352000	0.07741	.		0.393	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130705.2	NM_145301		4	71	0	0	0	1	0	4	71				
RPTOR	57521	broad.mit.edu	37	17	78796978	78796978	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3SY-01A-11D-A22Z-08	TCGA-EM-A3SY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4f242f0-59bd-4b86-b0a0-0431a3d0d910	0b976d62-807e-4c82-841d-44273272d2fb	g.chr17:78796978C>T	ENST00000306801.3	+	9	1453	c.1091C>T	c.(1090-1092)cCc>cTc	p.P364L	RPTOR_ENST00000537330.1_Missense_Mutation_p.P179L|RPTOR_ENST00000544334.2_Missense_Mutation_p.P364L|RPTOR_ENST00000570891.1_Missense_Mutation_p.P364L|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	364					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						AACTGCACTCCCGTCAGCAGC	0.552																																						ENST00000306801.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						c.(1090-1092)cCc>cTc		regulatory associated protein of MTOR, complex 1							100.0	102.0	102.0					17																	78796978		2203	4300	6503	SO:0001583	missense	57521				cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding	g.chr17:78796978C>T		CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"""WD repeat domain containing"""	30287	protein-coding gene	gene with protein product	"""regulatory associated protein of mTOR"""	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.1091C>T	17.37:g.78796978C>T	ENSP00000307272:p.Pro364Leu					RPTOR_ENST00000570891.1_Missense_Mutation_p.P364L|RPTOR_ENST00000544334.2_Missense_Mutation_p.P364L|RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000537330.1_Missense_Mutation_p.P179L	p.P364L	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN			9	1453	+			364					B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	ENST00000306801.3	37	c.1091C>T	CCDS11773.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.183178	0.78677	.	.	ENSG00000141564	ENST00000537330;ENST00000306801;ENST00000544334	T;T	0.70399	-0.48;-0.45	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.89667	0.6781	H	0.96365	3.81	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.998	D;D;D	0.80764	0.994;0.988;0.928	D	0.92803	0.6258	10	0.87932	D	0	.	19.1163	0.93343	0.0:1.0:0.0:0.0	.	364;179;364	F5H7J5;F5GXV9;Q8N122	.;.;RPTOR_HUMAN	L	179;364;364	ENSP00000307272:P364L;ENSP00000442479:P364L	ENSP00000307272:P364L	P	+	2	0	RPTOR	76411573	1.000000	0.71417	0.905000	0.35620	0.297000	0.27493	7.418000	0.80167	2.513000	0.84729	0.650000	0.86243	CCC		0.552	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761		42	63	0	0	0	1	0	42	63				
WHAMMP3	339005	broad.mit.edu	37	15	23205094	23205094	+	RNA	SNP	G	G	A			TCGA-EM-A3SY-01A-11D-A22Z-08	TCGA-EM-A3SY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4f242f0-59bd-4b86-b0a0-0431a3d0d910	0b976d62-807e-4c82-841d-44273272d2fb	g.chr15:23205094G>A	ENST00000400153.2	-	0	760					NR_003521.1		Q1A5X7	WHAL1_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 3																		AGTACTGGAAGAACGTGGTTG	0.373																																						ENST00000400153.2																			0																																																			0							g.chr15:23205094G>A	BC048987		15q11.2	2014-03-20	2011-06-24	2011-06-24	ENSG00000187667	ENSG00000276141			27892	pseudogene	pseudogene			"""WAS protein homology region 2 domain containing 1-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1 (pseudogene)"""	WHDC1L1, WHAMML1		18226259	Standard	NR_003521		Approved		uc001yvg.3	Q1A5X7	OTTHUMG00000171921		15.37:g.23205094G>A								NR_003521.1						0	760	-								Q1A5X8|Q52M16|Q52M18	RNA	SNP	ENST00000400153.2	37																																																																																						0.373	WHAMMP3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415907.1	NR_003521		3	11	0	0	0	1	0	3	11				
OR5B17	219965	broad.mit.edu	37	11	58126103	58126103	+	Missense_Mutation	SNP	T	T	A			TCGA-EM-A3SY-01A-11D-A22Z-08	TCGA-EM-A3SY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4f242f0-59bd-4b86-b0a0-0431a3d0d910	0b976d62-807e-4c82-841d-44273272d2fb	g.chr11:58126103T>A	ENST00000357377.3	-	1	439	c.440A>T	c.(439-441)tAt>tTt	p.Y147F		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	147						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ACCAATGACATAACAGCCTAT	0.443																																						ENST00000357377.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(439-441)tAt>tTt		olfactory receptor, family 5, subfamily B, member 17							99.0	93.0	95.0					11																	58126103		2201	4295	6496	SO:0001583	missense	219965				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58126103T>A	AB065849	CCDS31548.1	11q12.1	2012-08-09			ENSG00000197786	ENSG00000197786		"""GPCR / Class A : Olfactory receptors"""	15267	protein-coding gene	gene with protein product				OR5B20P			Standard	NM_001005489		Approved		uc010rke.2	Q8NGF7	OTTHUMG00000167465	ENST00000357377.3:c.440A>T	11.37:g.58126103T>A	ENSP00000349945:p.Tyr147Phe						p.Y147F	NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN			1	439	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	147					Q6IEX1	Missense_Mutation	SNP	ENST00000357377.3	37	c.440A>T	CCDS31548.1	.	.	.	.	.	.	.	.	.	.	t	12.93	2.084460	0.36758	.	.	ENSG00000197786	ENST00000357377	T	0.37411	1.2	3.27	3.27	0.37495	GPCR, rhodopsin-like superfamily (1);	0.239938	0.21518	U	0.073264	T	0.40670	0.1126	M	0.66297	2.02	0.09310	N	1	P	0.49185	0.92	P	0.51742	0.678	T	0.31475	-0.9942	10	0.45353	T	0.12	.	2.6908	0.05120	0.2274:0.1256:0.0:0.647	.	147	Q8NGF7	OR5BH_HUMAN	F	147	ENSP00000349945:Y147F	ENSP00000349945:Y147F	Y	-	2	0	OR5B17	57882679	0.000000	0.05858	0.006000	0.13384	0.008000	0.06430	-0.177000	0.09796	1.363000	0.46019	0.378000	0.23410	TAT		0.443	OR5B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394708.2	NM_001005489		26	49	0	0	0	1	0	26	49				
CTAGE5	4253	broad.mit.edu	37	14	39818109	39818109	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3SY-01A-11D-A22Z-08	TCGA-EM-A3SY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4f242f0-59bd-4b86-b0a0-0431a3d0d910	0b976d62-807e-4c82-841d-44273272d2fb	g.chr14:39818109G>A	ENST00000280083.3	+	23	2490	c.2176G>A	c.(2176-2178)Gcc>Acc	p.A726T	CTAGE5_ENST00000553383.1_3'UTR|CTAGE5_ENST00000557038.1_Missense_Mutation_p.A646T|CTAGE5_ENST00000341502.5_Missense_Mutation_p.A726T|RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.A1261T|CTAGE5_ENST00000553352.1_Missense_Mutation_p.A697T|CTAGE5_ENST00000556148.1_Missense_Mutation_p.A651T|CTAGE5_ENST00000396165.4_Missense_Mutation_p.A697T|CTAGE5_ENST00000396158.2_Missense_Mutation_p.A731T|CTAGE5_ENST00000348007.3_Missense_Mutation_p.A683T|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.A697T|CTAGE5_ENST00000341749.3_Missense_Mutation_p.A714T			O15320	CTGE5_HUMAN	CTAGE family, member 5	726	Pro-rich.				positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		TCCTCCAGGAGCCATGTTTGG	0.478																																						ENST00000553728.1																			0											c.(3781-3783)Gcc>Acc									89.0	96.0	94.0					14																	39818109		2203	4299	6502	SO:0001583	missense	0							g.chr14:39818109G>A	U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"""meningioma expressed antigen 6 (coiled-coil proline-rich)"""	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.2176G>A	14.37:g.39818109G>A	ENSP00000280083:p.Ala726Thr					CTAGE5_ENST00000348007.3_Missense_Mutation_p.A683T|CTAGE5_ENST00000341502.5_Missense_Mutation_p.A726T|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.A697T|CTAGE5_ENST00000396158.2_Missense_Mutation_p.A731T|CTAGE5_ENST00000553383.1_3'UTR|CTAGE5_ENST00000556148.1_Missense_Mutation_p.A651T|CTAGE5_ENST00000557038.1_Missense_Mutation_p.A646T|CTAGE5_ENST00000396165.4_Missense_Mutation_p.A697T|CTAGE5_ENST00000553352.1_Missense_Mutation_p.A697T|CTAGE5_ENST00000341749.3_Missense_Mutation_p.A714T|CTAGE5_ENST00000280083.3_Missense_Mutation_p.A726T	p.A1261T							27	3994	+								B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Missense_Mutation	SNP	ENST00000280083.3	37	c.3781G>A	CCDS9674.1	.	.	.	.	.	.	.	.	.	.	G	0.017	-1.501682	0.01001	.	.	ENSG00000258941;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527	ENST00000553728;ENST00000341749;ENST00000557038;ENST00000396165;ENST00000341502;ENST00000396158;ENST00000280083;ENST00000556148;ENST00000348007;ENST00000553352	T;T;T;T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95	5.52	-1.53	0.08611	.	1.365090	0.05232	N	0.510506	T	0.09379	0.0231	N	0.00116	-2.08	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.001;0.001;0.0;0.001	T	0.25047	-1.0143	9	.	.	.	.	6.8506	0.24012	0.4417:0.135:0.4233:0.0	.	731;683;726;654;714	O15320-5;O15320-2;O15320;O15320-7;G3XAC5	.;.;CTGE5_HUMAN;.;.	T	1261;714;646;697;726;731;726;651;683;697	ENSP00000452252:A1261T;ENSP00000343897:A714T;ENSP00000450869:A646T;ENSP00000379468:A697T;ENSP00000339286:A726T;ENSP00000379462:A731T;ENSP00000280083:A726T;ENSP00000452562:A651T;ENSP00000343912:A683T;ENSP00000450449:A697T	.	A	+	1	0	CTAGE5;RP11-407N17.3	38887860	0.138000	0.22547	0.013000	0.15412	0.031000	0.12232	0.085000	0.14912	-0.161000	0.10983	-0.290000	0.09829	GCC		0.478	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276771.2	NM_005930		4	81	0	0	0	1	0	4	81				
ARRB2	409	broad.mit.edu	37	17	4619828	4619828	+	Silent	SNP	A	A	C			TCGA-EM-A3SY-01A-11D-A22Z-08	TCGA-EM-A3SY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4f242f0-59bd-4b86-b0a0-0431a3d0d910	0b976d62-807e-4c82-841d-44273272d2fb	g.chr17:4619828A>C	ENST00000269260.2	+	5	515	c.282A>C	c.(280-282)ccA>ccC	p.P94P	ARRB2_ENST00000381488.6_Silent_p.P79P|ARRB2_ENST00000570718.1_3'UTR|ARRB2_ENST00000575877.1_Silent_p.P94P|ARRB2_ENST00000412477.3_Silent_p.P94P|ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000346341.2_Silent_p.P79P|ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000572457.1_5'UTR	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	94					adult walking behavior (GO:0007628)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell chemotaxis (GO:0060326)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|Notch signaling pathway (GO:0007219)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|receptor internalization (GO:0031623)|regulation of androgen receptor signaling pathway (GO:0060765)|transcription from RNA polymerase II promoter (GO:0006366)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	angiotensin receptor binding (GO:0031701)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)|ubiquitin protein ligase binding (GO:0031625)			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						TGCCCAACCCACCCCGGCCCC	0.667																																						ENST00000269260.2																			0				large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						c.(280-282)ccA>ccC		arrestin, beta 2							30.0	25.0	26.0					17																	4619828		2203	4298	6501	SO:0001819	synonymous_variant	409				cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding	g.chr17:4619828A>C		CCDS11050.1, CCDS11051.1, CCDS58504.1, CCDS58505.1, CCDS59276.1	17p13	2008-12-11			ENSG00000141480	ENSG00000141480			712	protein-coding gene	gene with protein product	"""arrestin 3"""	107941		ARR2		7695743	Standard	NM_001257329		Approved	BARR2, DKFZp686L0365	uc002fyl.3	P32121	OTTHUMG00000090759	ENST00000269260.2:c.282A>C	17.37:g.4619828A>C						ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000570718.1_3'UTR|ARRB2_ENST00000412477.3_Silent_p.P94P|ARRB2_ENST00000381488.6_Silent_p.P79P|ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000346341.2_Silent_p.P79P|ARRB2_ENST00000575877.1_Silent_p.P94P	p.P94P	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN			5	515	+			94					B4DLW0|B5B0C0|B7WPL3|D3DTK2|H0Y688|Q0Z8D3|Q2PP19|Q6ICT3|Q8N7Y2|Q9UEQ6	Silent	SNP	ENST00000269260.2	37	c.282A>C	CCDS11050.1																																																																																				0.667	ARRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439552.1	NM_004313		6	22	0	0	0	1	0	6	22				
MGAT4A	11320	broad.mit.edu	37	2	99256429	99256429	+	Silent	SNP	G	G	A			TCGA-EM-A3SY-01A-11D-A22Z-08	TCGA-EM-A3SY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4f242f0-59bd-4b86-b0a0-0431a3d0d910	0b976d62-807e-4c82-841d-44273272d2fb	g.chr2:99256429G>A	ENST00000264968.3	-	11	1527	c.1164C>T	c.(1162-1164)atC>atT	p.I388I	MGAT4A_ENST00000414521.2_Silent_p.I260I|MGAT4A_ENST00000393487.1_Silent_p.I388I|MGAT4A_ENST00000409391.1_Silent_p.I388I			Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A	388					cellular protein metabolic process (GO:0044267)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						GGTTTACATGGATTTTAAGAA	0.363																																						ENST00000393487.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						c.(1162-1164)atC>atT		mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A							69.0	73.0	72.0					2																	99256429		2203	4300	6503	SO:0001819	synonymous_variant	11320				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr2:99256429G>A	AB000616	CCDS2036.1, CCDS54380.1	2q12	2013-02-25	2005-11-16		ENSG00000071073	ENSG00000071073	2.4.1.145	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7047	protein-coding gene	gene with protein product		604623	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme A"""			10024668	Standard	NM_001160154		Approved	GnT-Iva, GnT-4a	uc002sze.3	Q9UM21	OTTHUMG00000130563	ENST00000264968.3:c.1164C>T	2.37:g.99256429G>A						MGAT4A_ENST00000264968.2_Silent_p.I388I|MGAT4A_ENST00000414521.2_Silent_p.I260I|MGAT4A_ENST00000409391.1_Silent_p.I388I	p.I388I	NM_012214.2	NP_036346.1	Q9UM21	MGT4A_HUMAN			12	1477	-			388					B4E2R6|D3DVH6|E9PEN2|Q53S97|Q86Z15	Silent	SNP	ENST00000264968.3	37	c.1164C>T	CCDS2036.1																																																																																				0.363	MGAT4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252988.2	NM_012214		10	25	0	0	0	1	0	10	25				
ZEB2	9839	broad.mit.edu	37	2	145161544	145161544	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3SY-01A-11D-A22Z-08	TCGA-EM-A3SY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4f242f0-59bd-4b86-b0a0-0431a3d0d910	0b976d62-807e-4c82-841d-44273272d2fb	g.chr2:145161544G>A	ENST00000558170.2	-	6	1930	c.746C>T	c.(745-747)aCg>aTg	p.T249M	ZEB2_ENST00000303660.4_Missense_Mutation_p.T249M|ZEB2_ENST00000539609.3_Missense_Mutation_p.T225M|ZEB2_ENST00000409487.3_Missense_Mutation_p.T249M	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	249					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GTAGGCAAACGTGTAGCTACA	0.512																																					Melanoma(33;1235 1264 5755 16332)	ENST00000558170.2																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107						c.(745-747)aCg>aTg		zinc finger E-box binding homeobox 2							237.0	228.0	231.0					2																	145161544		2203	4300	6503	SO:0001583	missense	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145161544G>A	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.746C>T	2.37:g.145161544G>A	ENSP00000454157:p.Thr249Met					ZEB2_ENST00000539609.3_Missense_Mutation_p.T225M|ZEB2_ENST00000409487.3_Missense_Mutation_p.T249M|ZEB2_ENST00000303660.4_Missense_Mutation_p.T249M	p.T249M	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	6	1930	-			249					A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	c.746C>T	CCDS2186.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.8|20.8	4.050891|4.050891	0.75960|0.75960	.|.	.|.	ENSG00000169554|ENSG00000169554	ENST00000419938|ENST00000392860;ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902;ENST00000392861	.|T;T;T;T;T	.|0.29917	.|1.55;1.55;1.55;1.55;1.55	5.65|5.65	5.65|5.65	0.86999|0.86999	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.55321|0.55321	0.1913|0.1913	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;0.999;1.0;1.0;1.0	.|D;D;D;D;D	.|0.87578	.|0.984;0.964;0.998;0.998;0.998	T|T	0.55315|0.55315	-0.8160|-0.8160	5|10	.|0.87932	.|D	.|0	-8.6697|-8.6697	19.7329|19.7329	0.96190|0.96190	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|225;114;225;248;249	.|F5H814;Q53TD9;B7Z2P2;A0JP08;O60315	.|.;.;.;.;ZEB2_HUMAN	C|M	138|244;225;249;249;249;249	.|ENSP00000443792:T225M;ENSP00000302501:T249M;ENSP00000386854:T249M;ENSP00000395496:T249M;ENSP00000376601:T249M	.|ENSP00000302501:T249M	R|T	-|-	1|2	0|0	ZEB2|ZEB2	144878014|144878014	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.476000|9.476000	0.97823|0.97823	2.663000|2.663000	0.90544|0.90544	0.655000|0.655000	0.94253|0.94253	CGT|ACG		0.512	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		27	46	0	0	0	1	0	27	46				
CTAGE5	4253	broad.mit.edu	37	14	39818104	39818104	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3SY-01A-11D-A22Z-08	TCGA-EM-A3SY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4f242f0-59bd-4b86-b0a0-0431a3d0d910	0b976d62-807e-4c82-841d-44273272d2fb	g.chr14:39818104C>T	ENST00000280083.3	+	23	2485	c.2171C>T	c.(2170-2172)cCa>cTa	p.P724L	CTAGE5_ENST00000553383.1_3'UTR|CTAGE5_ENST00000557038.1_Missense_Mutation_p.P644L|CTAGE5_ENST00000341502.5_Missense_Mutation_p.P724L|RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.P1259L|CTAGE5_ENST00000553352.1_Missense_Mutation_p.P695L|CTAGE5_ENST00000556148.1_Missense_Mutation_p.P649L|CTAGE5_ENST00000396165.4_Missense_Mutation_p.P695L|CTAGE5_ENST00000396158.2_Missense_Mutation_p.P729L|CTAGE5_ENST00000348007.3_Missense_Mutation_p.P681L|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.P695L|CTAGE5_ENST00000341749.3_Missense_Mutation_p.P712L			O15320	CTGE5_HUMAN	CTAGE family, member 5	724	Pro-rich.				positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		CCACCTCCTCCAGGAGCCATG	0.483																																						ENST00000553728.1																			0											c.(3775-3777)cCa>cTa									91.0	97.0	95.0					14																	39818104		2203	4300	6503	SO:0001583	missense	0							g.chr14:39818104C>T	U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"""meningioma expressed antigen 6 (coiled-coil proline-rich)"""	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.2171C>T	14.37:g.39818104C>T	ENSP00000280083:p.Pro724Leu					CTAGE5_ENST00000348007.3_Missense_Mutation_p.P681L|CTAGE5_ENST00000341502.5_Missense_Mutation_p.P724L|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.P695L|CTAGE5_ENST00000396158.2_Missense_Mutation_p.P729L|CTAGE5_ENST00000553383.1_3'UTR|CTAGE5_ENST00000556148.1_Missense_Mutation_p.P649L|CTAGE5_ENST00000557038.1_Missense_Mutation_p.P644L|CTAGE5_ENST00000396165.4_Missense_Mutation_p.P695L|CTAGE5_ENST00000553352.1_Missense_Mutation_p.P695L|CTAGE5_ENST00000341749.3_Missense_Mutation_p.P712L|CTAGE5_ENST00000280083.3_Missense_Mutation_p.P724L	p.P1259L							27	3989	+								B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Missense_Mutation	SNP	ENST00000280083.3	37	c.3776C>T	CCDS9674.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.242730	0.58995	.	.	ENSG00000258941;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527	ENST00000553728;ENST00000341749;ENST00000557038;ENST00000396165;ENST00000341502;ENST00000396158;ENST00000280083;ENST00000556148;ENST00000348007;ENST00000553352	T;T;T;T;T;T;T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47	5.4	5.4	0.78164	.	0.242308	0.21599	N	0.071969	T	0.81772	0.4893	M	0.83312	2.635	0.50313	D	0.999861	D;P;D;P;D	0.53151	0.958;0.867;0.958;0.947;0.958	P;P;P;P;P	0.54140	0.743;0.564;0.743;0.676;0.743	T	0.83353	-0.0002	9	.	.	.	.	16.934	0.86198	0.0:1.0:0.0:0.0	.	729;681;724;652;712	O15320-5;O15320-2;O15320;O15320-7;G3XAC5	.;.;CTGE5_HUMAN;.;.	L	1259;712;644;695;724;729;724;649;681;695	ENSP00000452252:P1259L;ENSP00000343897:P712L;ENSP00000450869:P644L;ENSP00000379468:P695L;ENSP00000339286:P724L;ENSP00000379462:P729L;ENSP00000280083:P724L;ENSP00000452562:P649L;ENSP00000343912:P681L;ENSP00000450449:P695L	.	P	+	2	0	CTAGE5;RP11-407N17.3	38887855	1.000000	0.71417	0.986000	0.45419	0.101000	0.19017	4.442000	0.59988	2.524000	0.85096	0.655000	0.94253	CCA		0.483	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276771.2	NM_005930		4	87	0	0	0	1	0	4	87				
RPS12	6206	broad.mit.edu	37	6	133138134	133138134	+	Silent	SNP	C	C	G			TCGA-EM-A3SY-01A-11D-A22Z-08	TCGA-EM-A3SY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4f242f0-59bd-4b86-b0a0-0431a3d0d910	0b976d62-807e-4c82-841d-44273272d2fb	g.chr6:133138134C>G	ENST00000230050.3	+	5	480	c.270C>G	c.(268-270)ggC>ggG	p.G90G	SNORD100_ENST00000408573.1_RNA|SNORA33_ENST00000363664.1_RNA|SNORD101_ENST00000384027.1_RNA	NM_001016.3	NP_001007.2	P25398	RS12_HUMAN	ribosomal protein S12	90					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(13)|lung(3)|urinary_tract(1)	18	Breast(56;0.214)			OV - Ovarian serous cystadenocarcinoma(155;0.00284)|GBM - Glioblastoma multiforme(226;0.0256)		AATGGGTAGGCCTTTGTAAAA	0.358																																						ENST00000230050.3																			0				endometrium(1)|kidney(13)|lung(3)|urinary_tract(1)	18						c.(268-270)ggC>ggG		ribosomal protein S12							69.0	67.0	67.0					6																	133138134		2203	4300	6503	SO:0001819	synonymous_variant	6206				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	structural constituent of ribosome	g.chr6:133138134C>G	X53505	CCDS5164.1	6q23	2011-04-05			ENSG00000112306	ENSG00000112306		"""S ribosomal proteins"""	10385	protein-coding gene	gene with protein product		603660				1861993, 9582194	Standard	NM_001016		Approved	S12	uc003qdx.3	P25398	OTTHUMG00000015593	ENST00000230050.3:c.270C>G	6.37:g.133138134C>G							p.G90G	NM_001016.3	NP_001007.2	P25398	RS12_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00284)|GBM - Glioblastoma multiforme(226;0.0256)	5	480	+	Breast(56;0.214)		90					Q76M58	Silent	SNP	ENST00000230050.3	37	c.270C>G	CCDS5164.1																																																																																				0.358	RPS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042270.2	NM_001016		5	55	0	0	0	1	0	5	55				
ESPNP	284729	broad.mit.edu	37	1	17034146	17034146	+	RNA	SNP	C	C	T			TCGA-EM-A3SY-01A-11D-A22Z-08	TCGA-EM-A3SY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4f242f0-59bd-4b86-b0a0-0431a3d0d910	0b976d62-807e-4c82-841d-44273272d2fb	g.chr1:17034146C>T	ENST00000492551.1	-	0	457					NR_026567.1				espin pseudogene																		CTTGCTGTGGCCGCGGCTCGC	0.721																																						ENST00000492551.1																			0																																																			0							g.chr1:17034146C>T	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17034146C>T								NR_026567.1						0	457	-									RNA	SNP	ENST00000492551.1	37																																																																																						0.721	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			3	8	0	0	0	1	0	3	8				
COL5A3	50509	broad.mit.edu	37	19	10108796	10108796	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A3SY-01A-11D-A22Z-08	TCGA-EM-A3SY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4f242f0-59bd-4b86-b0a0-0431a3d0d910	0b976d62-807e-4c82-841d-44273272d2fb	g.chr19:10108796C>A	ENST00000264828.3	-	9	1225	c.1140G>T	c.(1138-1140)gaG>gaT	p.E380D	CTD-2553C6.1_ENST00000592332.1_RNA	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	380	Nonhelical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TCACTGCGGGCTCTCCTTTTG	0.537																																						ENST00000264828.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116						c.(1138-1140)gaG>gaT		collagen, type V, alpha 3							228.0	212.0	217.0					19																	10108796		2203	4300	6503	SO:0001583	missense	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10108796C>A	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.1140G>T	19.37:g.10108796C>A	ENSP00000264828:p.Glu380Asp						p.E380D	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		9	1225	-			380			Nonhelical region.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.1140G>T	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.124701	0.56613	.	.	ENSG00000080573	ENST00000264828	D	0.91295	-2.82	4.75	-6.21	0.02065	.	0.000000	0.64402	D	0.000001	D	0.92289	0.7554	L	0.61036	1.89	0.36290	D	0.856372	D	0.69078	0.997	D	0.79108	0.992	D	0.91288	0.5057	10	0.40728	T	0.16	.	15.6478	0.77068	0.0:0.702:0.0:0.298	.	380	P25940	CO5A3_HUMAN	D	380	ENSP00000264828:E380D	ENSP00000264828:E380D	E	-	3	2	COL5A3	9969796	0.015000	0.18098	0.575000	0.28536	0.786000	0.44442	-1.543000	0.02194	-1.279000	0.02405	0.306000	0.20318	GAG		0.537	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		5	331	1	0	0.248553	1	0.248553	5	331				
HS6ST1	9394	broad.mit.edu	37	2	129026419	129026419	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EM-A3SY-01A-11D-A22Z-08	TCGA-EM-A3SY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4f242f0-59bd-4b86-b0a0-0431a3d0d910	0b976d62-807e-4c82-841d-44273272d2fb	g.chr2:129026419G>A	ENST00000259241.6	-	2	566	c.553C>T	c.(553-555)Cga>Tga	p.R185*		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	185	3'-phosphate binding. {ECO:0000255}.				angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|labyrinthine layer blood vessel development (GO:0060716)|lung alveolus development (GO:0048286)|neuron development (GO:0048666)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)|sulfotransferase activity (GO:0008146)	p.R185*(2)		endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		ACGGGGTCTCGTAGCAGGGTG	0.627																																						ENST00000259241.6																			2	Substitution - Nonsense(2)	p.R185*(2)	prostate(1)|pancreas(1)	endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15						c.(553-555)Cga>Tga		heparan sulfate 6-O-sulfotransferase 1																																				SO:0001587	stop_gained	9394				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity	g.chr2:129026419G>A	AB006179	CCDS42748.1	2q21	2010-03-19		2002-08-23	ENSG00000136720	ENSG00000136720		"""Sulfotransferases, membrane-bound"""	5201	protein-coding gene	gene with protein product		604846		HS6ST		9535912	Standard	NM_004807		Approved		uc002tpt.4	O60243	OTTHUMG00000153542	ENST00000259241.6:c.553C>T	2.37:g.129026419G>A	ENSP00000259241:p.Arg185*						p.R185*	NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	2	566	-	Colorectal(110;0.1)		185			3'-phosphate binding (Potential).		B4DEP2|B4DJ29|Q53SL2|Q9BVI1	Nonsense_Mutation	SNP	ENST00000259241.6	37	c.553C>T	CCDS42748.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.065652	0.76187	.	.	ENSG00000136720	ENST00000259241	.	.	.	4.85	2.8	0.32819	.	0.051973	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.284	0.49212	0.0:0.0:0.3759:0.6241	.	.	.	.	X	185	.	.	R	-	1	2	HS6ST1	128742889	1.000000	0.71417	0.985000	0.45067	0.971000	0.66376	1.846000	0.39289	1.015000	0.39444	0.462000	0.41574	CGA		0.627	HS6ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331572.1	NM_004807		3	22	0	0	0	1	0	3	22				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-EM-A3SY-01A-11D-A22Z-08	TCGA-EM-A3SY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4f242f0-59bd-4b86-b0a0-0431a3d0d910	0b976d62-807e-4c82-841d-44273272d2fb	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		5	31	0	0	0	1	0	5	31				
SNX19	399979	broad.mit.edu	37	11	130785254	130785254	+	Missense_Mutation	SNP	C	C	T	rs181345241		TCGA-EM-A3SY-01A-11D-A22Z-08	TCGA-EM-A3SY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4f242f0-59bd-4b86-b0a0-0431a3d0d910	0b976d62-807e-4c82-841d-44273272d2fb	g.chr11:130785254C>T	ENST00000265909.4	-	1	1150	c.581G>A	c.(580-582)cGg>cAg	p.R194Q	SNX19_ENST00000528555.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000533214.1_Missense_Mutation_p.R194Q|SNX19_ENST00000539184.1_Intron	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	194	PXA. {ECO:0000255|PROSITE- ProRule:PRU00147, ECO:0000255|PROSITE- ProRule:PRU00553}.				protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		GGCAGTCGCCCGGCAGTAAGC	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		20811	0.001		0.0	False		,,,				2504	0.0					ENST00000265909.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35						c.(580-582)cGg>cAg		sorting nexin 19							36.0	35.0	35.0					11																	130785254		2201	4297	6498	SO:0001583	missense	399979				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	g.chr11:130785254C>T	D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"""Sorting nexins"""	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.581G>A	11.37:g.130785254C>T	ENSP00000265909:p.Arg194Gln					SNX19_ENST00000530356.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000533214.1_Missense_Mutation_p.R194Q|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000528555.1_Intron	p.R194Q	NM_014758.2	NP_055573.2	Q92543	SNX19_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)	1	1150	-	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)	194			PXA.		E9PKB9|Q8IV55	Missense_Mutation	SNP	ENST00000265909.4	37	c.581G>A	CCDS31721.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	4.630	0.117063	0.08881	.	.	ENSG00000120451	ENST00000265909;ENST00000533214	T;T	0.15139	2.83;2.45	5.21	-8.07	0.01098	Phox-associated domain (2);PX-associated, sorting nexin 13 (1);	1.011150	0.07907	N	0.973648	T	0.10121	0.0248	N	0.17082	0.46	0.19775	N	0.99995	B;B	0.15473	0.013;0.0	B;B	0.08055	0.003;0.001	T	0.27054	-1.0085	10	0.34782	T	0.22	-1.0503	16.2974	0.82783	0.0:0.5533:0.0:0.4467	.	194;194	E9PKB9;Q92543	.;SNX19_HUMAN	Q	194	ENSP00000265909:R194Q;ENSP00000435390:R194Q	ENSP00000265909:R194Q	R	-	2	0	SNX19	130290464	0.000000	0.05858	0.001000	0.08648	0.489000	0.33432	-1.363000	0.02592	-1.576000	0.01652	-0.474000	0.04947	CGG		0.592	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385649.1	NM_014758		6	33	0	0	0	1	0	6	33				
F8	2157	broad.mit.edu	37	X	154197827	154197827	+	Splice_Site	SNP	C	C	G			TCGA-EM-A3SY-01A-11D-A22Z-08	TCGA-EM-A3SY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4f242f0-59bd-4b86-b0a0-0431a3d0d910	0b976d62-807e-4c82-841d-44273272d2fb	g.chrX:154197827C>G	ENST00000360256.4	-	7	988	c.788G>C	c.(787-789)gGt>gCt	p.G263A		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	263	F5/8 type A 1.|Plastocyanin-like 2.		G -> S (in HEMA). {ECO:0000269|PubMed:8639447}.		acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TCCAATCAGACCTGTAAAGTA	0.408																																						ENST00000360256.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	GRCh37	CM070106	F8	M		c.e7-1		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						101.0	87.0	91.0					X																	154197827		2203	4300	6503	SO:0001630	splice_region_variant	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154197827C>G	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.788-1G>C	X.37:g.154197827C>G							p.G263_splice	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			7	988	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		263		G -> S (in HEMA).	F5/8 type A 1.|Plastocyanin-like 2.		Q14286|Q5HY69	Splice_Site	SNP	ENST00000360256.4	37	c.787_splice	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.093148	0.56075	.	.	ENSG00000185010	ENST00000360256	D	0.99769	-6.7	5.51	4.53	0.55603	Cupredoxin (2);Multicopper oxidase, type 1 (1);	0.170332	0.51477	D	0.000095	D	0.99641	0.9868	M	0.82517	2.595	0.35282	D	0.781386	D	0.71674	0.998	D	0.74348	0.983	D	0.98290	1.0513	10	0.66056	D	0.02	.	7.7439	0.28858	0.0:0.8338:0.0:0.1662	.	263	P00451	FA8_HUMAN	A	263	ENSP00000353393:G263A	ENSP00000353393:G263A	G	-	2	0	F8	153851021	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	1.973000	0.40550	2.305000	0.77605	0.544000	0.68410	GGT		0.408	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4		Missense_Mutation	13	28	0	0	0	1	0	13	28				
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs2684618	byFrequency	TCGA-EM-A3SY-01A-11D-A22Z-08	TCGA-EM-A3SY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4f242f0-59bd-4b86-b0a0-0431a3d0d910	0b976d62-807e-4c82-841d-44273272d2fb	g.chr17:43587576A>G	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		tctgaaaagaaaagaaaaaaa	0.428													A|||	308	0.0615016	0.0204	0.0548	5008	,	,		16882	0.0685		0.1113	False		,,,				2504	0.0634					ENST00000253803.2																			0																																																			0							g.chr17:43587576A>G	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.43587576A>G						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.428	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		6	62	0	0	0	1	0	6	62				
POM121L9P	29774	broad.mit.edu	37	22	24659578	24659578	+	RNA	SNP	A	A	G			TCGA-EM-A3SY-01A-11D-A22Z-08	TCGA-EM-A3SY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4f242f0-59bd-4b86-b0a0-0431a3d0d910	0b976d62-807e-4c82-841d-44273272d2fb	g.chr22:24659578A>G	ENST00000414583.2	+	0	3103					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		TGCGCAGGCCAACACTCACTG	0.617																																						ENST00000414583.2																			0																																																			0							g.chr22:24659578A>G	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659578A>G								NR_003714.1						0	3103	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.617	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		3	13	0	0	0	1	0	3	13				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-EM-A3SY-01A-11D-A22Z-08	TCGA-EM-A3SY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4f242f0-59bd-4b86-b0a0-0431a3d0d910	0b976d62-807e-4c82-841d-44273272d2fb	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		4	48	0	0	0	1	0	4	48				
SCN5A	6331	broad.mit.edu	37	3	38592647	38592647	+	Missense_Mutation	SNP	C	C	T	rs200217157		TCGA-EM-A3SY-01A-11D-A22Z-08	TCGA-EM-A3SY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4f242f0-59bd-4b86-b0a0-0431a3d0d910	0b976d62-807e-4c82-841d-44273272d2fb	g.chr3:38592647C>T	ENST00000333535.4	-	28	5365	c.5216G>A	c.(5215-5217)cGg>cAg	p.R1739Q	SCN5A_ENST00000449557.2_Missense_Mutation_p.R1685Q|SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000414099.2_Missense_Mutation_p.R1721Q|SCN5A_ENST00000443581.1_Missense_Mutation_p.R1738Q|SCN5A_ENST00000425664.1_Missense_Mutation_p.R1721Q|SCN5A_ENST00000450102.2_Missense_Mutation_p.R1685Q|SCN5A_ENST00000451551.2_Missense_Mutation_p.R1685Q|SCN5A_ENST00000413689.1_Missense_Mutation_p.R1739Q|SCN5A_ENST00000423572.2_Missense_Mutation_p.R1738Q|SCN5A_ENST00000455624.2_Missense_Mutation_p.R1706Q			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1739					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GCAGTCCCCCCGAGAGCCATT	0.612																																						ENST00000413689.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(5215-5217)cGg>cAg		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						64.0	69.0	68.0					3																	38592647		2203	4300	6503	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38592647C>T	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.5216G>A	3.37:g.38592647C>T	ENSP00000328968:p.Arg1739Gln					SCN5A_ENST00000455624.2_Missense_Mutation_p.R1706Q|SCN5A_ENST00000451551.2_Missense_Mutation_p.R1685Q|SCN5A_ENST00000450102.2_Missense_Mutation_p.R1685Q|SCN5A_ENST00000449557.2_Missense_Mutation_p.R1685Q|SCN5A_ENST00000423572.2_Missense_Mutation_p.R1738Q|SCN5A_ENST00000443581.1_Missense_Mutation_p.R1738Q|SCN5A_ENST00000333535.4_Missense_Mutation_p.R1739Q|SCN5A_ENST00000425664.1_Missense_Mutation_p.R1721Q|SCN5A_ENST00000414099.2_Missense_Mutation_p.R1721Q	p.R1739Q	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	28	5409	-	Medulloblastoma(35;0.163)		1739					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.5216G>A	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.573662	0.65765	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.95756	-3.71;-3.74;-3.74;-3.76;-3.74;-3.71;-3.74;-3.8;-3.76;-3.76	4.95	4.95	0.65309	Ion transport (1);	0.144183	0.50627	D	0.000113	D	0.92734	0.7690	L	0.35854	1.095	0.35399	D	0.791442	B;D;P;D;P;P	0.56968	0.381;0.958;0.784;0.978;0.583;0.81	B;B;B;P;B;B	0.50934	0.149;0.37;0.274;0.654;0.146;0.212	D	0.93067	0.6479	10	0.59425	D	0.04	.	4.6104	0.12399	0.2159:0.6564:0.0:0.1276	.	1685;1706;1721;1739;1738;1739	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	Q	1721;1738;1739;1685;1738;1721;1739;1706;1685;1685	ENSP00000398962:R1721Q;ENSP00000398266:R1738Q;ENSP00000410257:R1739Q;ENSP00000388797:R1685Q;ENSP00000397915:R1738Q;ENSP00000416634:R1721Q;ENSP00000328968:R1739Q;ENSP00000399524:R1706Q;ENSP00000403355:R1685Q;ENSP00000413996:R1685Q	ENSP00000328968:R1739Q	R	-	2	0	SCN5A	38567651	0.999000	0.42202	1.000000	0.80357	0.833000	0.47200	2.333000	0.43912	2.573000	0.86826	0.655000	0.94253	CGG		0.612	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		26	57	0	0	0	1	0	26	57				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-EM-A3SY-01A-11D-A22Z-08	TCGA-EM-A3SY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4f242f0-59bd-4b86-b0a0-0431a3d0d910	0b976d62-807e-4c82-841d-44273272d2fb	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	54	0	0	0	1	0	5	54				
LYRM7	90624	broad.mit.edu	37	5	130517950	130517951	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EM-A3SY-01A-11D-A22Z-08	TCGA-EM-A3SY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4f242f0-59bd-4b86-b0a0-0431a3d0d910	0b976d62-807e-4c82-841d-44273272d2fb	g.chr5:130517950_130517951insA	ENST00000379380.4	+	3	331_332	c.120_121insA	c.(121-123)aaafs	p.K41fs	LYRM7_ENST00000510516.1_Intron|LYRM7_ENST00000507584.1_Frame_Shift_Ins_p.K41fs	NM_181705.2	NP_859056.2	Q5U5X0	LYRM7_HUMAN	LYR motif containing 7	41						mitochondrion (GO:0005739)				upper_aerodigestive_tract(1)	1		all_cancers(142;0.0377)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATGAAGAATTCAAAAATAATAA	0.243																																						ENST00000379380.4																			0				upper_aerodigestive_tract(1)	1						c.(118-123)ttaaaafs		LYR motif containing 7																																				SO:0001589	frameshift_variant	90624							g.chr5:130517950_130517951insA	BC047079	CCDS4148.1	5q31.1	2013-05-24	2012-10-23	2006-10-17	ENSG00000186687	ENSG00000186687		"""LYR motif containing"""	28072	protein-coding gene	gene with protein product		615831	"""chromosome 5 open reading frame 31"", ""Lyrm7 homolog (mouse)"""	C5orf31		23168492	Standard	NM_181705		Approved	FLJ20796, MZM1L	uc003kvg.1	Q5U5X0	OTTHUMG00000128994	ENST00000379380.4:c.125dupA	5.37:g.130517955_130517955dupA	ENSP00000368688:p.Lys41fs					LYRM7_ENST00000507584.1_Frame_Shift_Ins_p.LK40fs|LYRM7_ENST00000510516.1_Intron	p.LK40fs	NM_181705.2	NP_859056.2	Q5U5X0	LYRM7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		3	331_332	+		all_cancers(142;0.0377)|Breast(839;0.198)	40					A8MPQ9|Q86Y68	Frame_Shift_Ins	INS	ENST00000379380.4	37	c.120_121insA	CCDS4148.1																																																																																				0.243	LYRM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250983.1	NM_181705		2	4						2	4	---	---	---	---
TMEM184A	202915	broad.mit.edu	37	7	1586662	1586663	+	In_Frame_Ins	INS	-	-	GCC	rs3837151|rs3779607	byFrequency	TCGA-EM-A3SY-01A-11D-A22Z-08	TCGA-EM-A3SY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4f242f0-59bd-4b86-b0a0-0431a3d0d910	0b976d62-807e-4c82-841d-44273272d2fb	g.chr7:1586662_1586663insGCC	ENST00000297477.5	-	9	1483_1484	c.1167_1168insGGC	c.(1165-1170)cccagc>cccGGCagc	p.389_390PS>PGS	TMEM184A_ENST00000449955.1_5'Flank	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	389			S -> G (in dbSNP:rs3779607). {ECO:0000269|PubMed:15489334}.		germ-line sex determination (GO:0018992)|regulation of protein localization (GO:0032880)|regulation of secretion (GO:0051046)	early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GAGCCGCCGCTGGGGTGGGTGC	0.703																																						ENST00000297477.5																			0				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12						c.(1165-1170)ccgcgg>ccGGCgcgg		transmembrane protein 184A				1912,2170		535,842,664						-3.6	0.0		dbSNP_132	17	3872,4214		1028,1816,1199	no	coding	TMEM184A	NM_001097620.1		1563,2658,1863	A1A1,A1R,RR		47.8852,46.8398,47.5345				5784,6384				SO:0001652	inframe_insertion	202915					integral to membrane		g.chr7:1586662_1586663insGCC		CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855			28797	protein-coding gene	gene with protein product						12477932	Standard	NM_001097620		Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.1167_1168insGGC	7.37:g.1586662_1586663insGCC	ENSP00000297477:p.Pro389_Ser390insGly						p.389_390PR>PAR	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)	9	1483_1484	-		Ovarian(82;0.0253)	389					Q8TBQ6	In_Frame_Ins	INS	ENST00000297477.5	37	c.1167_1168insGGC	CCDS43537.1																																																																																				0.703	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239229.4	NM_152689		7	28						7	28	---	---	---	---
ATAD2	29028	broad.mit.edu	37	8	124351559	124351559	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EM-A3SY-01A-11D-A22Z-08	TCGA-EM-A3SY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4f242f0-59bd-4b86-b0a0-0431a3d0d910	0b976d62-807e-4c82-841d-44273272d2fb	g.chr8:124351559delT	ENST00000287394.5	-	20	2953	c.2846delA	c.(2845-2847)aagfs	p.K950fs	ATAD2_ENST00000521903.1_Frame_Shift_Del_p.K268fs	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	950					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			ACCTGCTTTCTTTTTTGATAT	0.299																																						ENST00000287394.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48						c.(2845-2847)agfs		ATPase family, AAA domain containing 2							39.0	38.0	39.0					8																	124351559		2196	4290	6486	SO:0001589	frameshift_variant	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124351559delT	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.2846delA	8.37:g.124351559delT	ENSP00000287394:p.Lys950fs					ATAD2_ENST00000521903.1_Frame_Shift_Del_p.K268fs	p.K950fs	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		20	2953	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		950					Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Frame_Shift_Del	DEL	ENST00000287394.5	37	c.2846delA	CCDS6343.1																																																																																				0.299	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		2	4						2	4	---	---	---	---
KRTAP5-2	440021	broad.mit.edu	37	11	1619173	1619202	+	In_Frame_Del	DEL	CCCCCACAGGAGCCACAGCCCCCCTTGGAG	CCCCCACAGGAGCCACAGCCCCCCTTGGAG	-	rs61869706|rs199811378|rs36134435|rs61869704|rs59506446	byFrequency	TCGA-EM-A3SY-01A-11D-A22Z-08	TCGA-EM-A3SY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4f242f0-59bd-4b86-b0a0-0431a3d0d910	0b976d62-807e-4c82-841d-44273272d2fb	g.chr11:1619173_1619202delCCCCCACAGGAGCCACAGCCCCCCTTGGAG	ENST00000412090.1	-	1	322_351	c.279_308delCTCCAAGGGGGGCTGTGGCTCCTGTGGGGG	c.(277-309)ggctccaaggggggctgtggctcctgtgggggt>ggt	p.93_103GSKGGCGSCGG>G	KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN	keratin associated protein 5-2	93	6 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				large_intestine(1)|lung(2)|skin(1)	4		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCCTTGGAACCCCCACAGGAGCCACAGCCCCCCTTGGAGCCCCCACAGG	0.657																																						ENST00000412090.1																			0				large_intestine(1)|lung(2)|skin(1)	4						c.(277-309)ggt>gg		keratin associated protein 5-2																																				SO:0001651	inframe_deletion	440021					keratin filament		g.chr11:1619173_1619202delCCCCCACAGGAGCCACAGCCCCCCTTGGAG	AB126071	CCDS31331.1	11p15.5	2008-02-05				ENSG00000205867		"""Keratin associated proteins"""	23597	protein-coding gene	gene with protein product						15144888	Standard	NM_001004325		Approved	KRTAP5.2, KRTAP5-8	uc001ltv.3	Q701N4		ENST00000412090.1:c.279_308delCTCCAAGGGGGGCTGTGGCTCCTGTGGGGG	11.37:g.1619173_1619202delCCCCCACAGGAGCCACAGCCCCCCTTGGAG	ENSP00000400041:p.Gly103_Gly112del					KRTAP5-AS1_ENST00000424148.1_RNA	p.GSKGGCGSCGG93del	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	322_351	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	93			6 X 4 AA repeats of C-C-X-P.		A9JTZ1	In_Frame_Del	DEL	ENST00000412090.1	37	c.279_308delCTCCAAGGGGGGCTGTGGCTCCTGTGGGGG	CCDS31331.1																																																																																				0.657	KRTAP5-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384775.1	NM_001004325		63	345						63	345	---	---	---	---
GPRC5D	55507	broad.mit.edu	37	12	13102506	13102514	+	In_Frame_Del	DEL	CTGTCTACA	CTGTCTACA	-			TCGA-EM-A3SY-01A-11D-A22Z-08	TCGA-EM-A3SY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4f242f0-59bd-4b86-b0a0-0431a3d0d910	0b976d62-807e-4c82-841d-44273272d2fb	g.chr12:13102506_13102514delCTGTCTACA	ENST00000228887.1	-	1	804_812	c.805_813delTGTAGACAG	c.(805-813)tgtagacagdel	p.CRQ269del	RP11-392P7.6_ENST00000542078.1_RNA|GPRC5D_ENST00000396333.3_In_Frame_Del_p.CRQ269del|RP11-392P7.6_ENST00000545914.1_RNA|RP11-392P7.6_ENST00000540198.1_RNA|RP11-392P7.6_ENST00000543515.2_RNA|RP11-392P7.6_ENST00000394742.3_RNA|RP11-392P7.6_ENST00000536029.1_RNA|RP11-392P7.6_ENST00000538231.1_RNA	NM_018654.1	NP_061124.1	Q9NZD1	GPC5D_HUMAN	G protein-coupled receptor, class C, group 5, member D	269						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			kidney(2)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		AAGGGCACTCCTGTCTACACGATCTGTAG	0.56																																						ENST00000228887.1																			0				kidney(2)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(805-813)del		G protein-coupled receptor, family C, group 5, member D																																				SO:0001651	inframe_deletion	55507					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:13102506_13102514delCTGTCTACA	AF209923	CCDS8658.1	12p13.3	2014-01-30	2014-01-30		ENSG00000111291	ENSG00000111291		"""GPCR / Class C : Orphans"""	13310	protein-coding gene	gene with protein product		607437	"""G protein-coupled receptor, family C, group 5, member D"""				Standard	XM_005253421		Approved		uc010shp.2	Q9NZD1	OTTHUMG00000168711	ENST00000228887.1:c.805_813delTGTAGACAG	12.37:g.13102506_13102514delCTGTCTACA	ENSP00000228887:p.Cys269_Gln271del					RP11-392P7.6_ENST00000543515.2_RNA|RP11-392P7.6_ENST00000542078.1_RNA|RP11-392P7.6_ENST00000394742.3_RNA|RP11-392P7.6_ENST00000540198.1_RNA|RP11-392P7.6_ENST00000536029.1_RNA|GPRC5D_ENST00000396333.3_In_Frame_Del_p.CRQ269del|RP11-392P7.6_ENST00000545914.1_RNA	p.CRQ269del	NM_018654.1	NP_061124.1	Q9NZD1	GPC5D_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.15)	1	804_812	-		Prostate(47;0.183)	269					Q3KNV3|Q7Z5J9|Q8TDS6	In_Frame_Del	DEL	ENST00000228887.1	37	c.805_813delTGTAGACAG	CCDS8658.1																																																																																				0.560	GPRC5D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400687.1			11	125						11	125	---	---	---	---
EP400	57634	broad.mit.edu	37	12	132547093	132547094	+	In_Frame_Ins	INS	-	-	CAG	rs10902490|rs113304321|rs528214697	byFrequency	TCGA-EM-A3SY-01A-11D-A22Z-08	TCGA-EM-A3SY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4f242f0-59bd-4b86-b0a0-0431a3d0d910	0b976d62-807e-4c82-841d-44273272d2fb	g.chr12:132547093_132547094insCAG	ENST00000333577.4	+	48	8398_8399	c.8289_8290insCAG	c.(8290-8292)cag>CAGcag	p.2764_2764Q>QQ	EP400_ENST00000332482.4_In_Frame_Ins_p.2691_2691Q>QQ|EP400_ENST00000389561.2_In_Frame_Ins_p.2728_2728Q>QQ|EP400_ENST00000330386.6_In_Frame_Ins_p.2647_2647Q>QQ|EP400_ENST00000389562.2_In_Frame_Ins_p.2727_2727Q>QQ			Q96L91	EP400_HUMAN	E1A binding protein p400	2764	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagca	0.564														1869	0.373203	0.3427	0.513	5008	,	,		15674	0.2391		0.4722	False		,,,				2504	0.3517					ENST00000333577.4																			9	Substitution - coding silent(9)	p.Q2726Q(9)	lung(3)|kidney(2)|endometrium(2)|central_nervous_system(2)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8287-8292)caagca>caCAGagca		E1A binding protein p400																																				SO:0001652	inframe_insertion	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547093_132547094insCAG	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8329_8331dupCAG	12.37:g.132547100_132547102dupCAG	ENSP00000333602:p.Gln2784dup					EP400_ENST00000330386.6_In_Frame_Ins_p.2646_2646Q>HR|EP400_ENST00000389561.2_In_Frame_Ins_p.2727_2727Q>HR|EP400_ENST00000332482.4_In_Frame_Ins_p.2690_2690Q>HR|EP400_ENST00000389562.2_In_Frame_Ins_p.2726_2726Q>HR	p.2763_2763Q>HR			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8398_8399	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2763			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	In_Frame_Ins	INS	ENST00000333577.4	37	c.8289_8290insCAG																																																																																					0.564	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		13	48						13	48	---	---	---	---
IGHV3-21	28444	broad.mit.edu	37	14	106691798	106691800	+	RNA	DEL	AAC	AAC	-	rs553767931	byFrequency	TCGA-EM-A3SY-01A-11D-A22Z-08	TCGA-EM-A3SY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4f242f0-59bd-4b86-b0a0-0431a3d0d910	0b976d62-807e-4c82-841d-44273272d2fb	g.chr14:106691798_106691800delAAC	ENST00000390607.2	-	0	302_304									immunoglobulin heavy variable 3-21																		TAGTATATGTAACTACTACTACT	0.517																																						ENST00000390607.2																			0																																																			0							g.chr14:106691798_106691800delAAC	Z14073		14q32.33	2012-02-08			ENSG00000211947	ENSG00000211947		"""Immunoglobulins / IGH locus"""	5586	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152279		14.37:g.106691798_106691800delAAC														0	302_304	-									RNA	DEL	ENST00000390607.2	37																																																																																						0.517	IGHV3-21-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325667.1	NG_001019		8	104						8	104	---	---	---	---
ZNF544	27300	broad.mit.edu	37	19	58772400	58772402	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-EM-A3SY-01A-11D-A22Z-08	TCGA-EM-A3SY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4f242f0-59bd-4b86-b0a0-0431a3d0d910	0b976d62-807e-4c82-841d-44273272d2fb	g.chr19:58772400_58772402delTGG	ENST00000596652.1	+	6	662_664	c.428_430delTGG	c.(427-432)atggta>ata	p.143_144MV>I	ZNF544_ENST00000415203.2_In_Frame_Del_p.115_116MV>I|ZNF544_ENST00000600220.1_In_Frame_Del_p.115_116MV>I|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000595981.1_Intron|CTD-3138B18.5_ENST00000597230.1_RNA|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000269829.4_In_Frame_Del_p.143_144MV>I|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000600044.1_In_Frame_Del_p.115_116MV>I|ZNF544_ENST00000599953.1_Start_Codon_Del|ZNF544_ENST00000599227.1_3'UTR			Q6NX49	ZN544_HUMAN	zinc finger protein 544	143					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)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		TTGAGGTTCATGGTACTCACCTC	0.473																																						ENST00000269829.4																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18						c.(427-432)ata>a		zinc finger protein 544																																				SO:0001651	inframe_deletion	27300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58772400_58772402delTGG	AF020591	CCDS12973.1	19q13.43	2013-01-08				ENSG00000198131		"""Zinc fingers, C2H2-type"", ""-"""	16759	protein-coding gene	gene with protein product	"""zinc finger protein AF020591"""						Standard	NM_014480		Approved	AF020591	uc010euo.3	Q6NX49		ENST00000596652.1:c.428_430delTGG	19.37:g.58772400_58772402delTGG	ENSP00000469635:p.Met143_Val144delinsIle					CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000599227.1_3'UTR|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000596652.1_In_Frame_Del_p.MV143del|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000600044.1_In_Frame_Del_p.MV115del|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000599953.1_Start_Codon_Del|ZNF544_ENST00000600220.1_In_Frame_Del_p.MV115del|ZNF544_ENST00000415203.2_In_Frame_Del_p.MV115del|ZNF544_ENST00000596825.1_3'UTR	p.MV143del	NM_014480.2	NP_055295.2	Q6NX49	ZN544_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)	7	902_904	+		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	143					A8K6J1|Q9UEX4	In_Frame_Del	DEL	ENST00000596652.1	37	c.428_430delTGG	CCDS12973.1																																																																																				0.473	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466754.1	NM_014480		20	53						20	53	---	---	---	---
BRWD3	254065	broad.mit.edu	37	X	79951458	79951458	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EM-A3SY-01A-11D-A22Z-08	TCGA-EM-A3SY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4f242f0-59bd-4b86-b0a0-0431a3d0d910	0b976d62-807e-4c82-841d-44273272d2fb	g.chrX:79951458delG	ENST00000373275.4	-	27	3316	c.3100delC	c.(3100-3102)cttfs	p.L1034fs	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1034					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TGTAGCACAAGGAAGTCAATG	0.308																																						ENST00000373275.4																			0				breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						c.(3100-3102)ttfs		bromodomain and WD repeat domain containing 3							76.0	69.0	71.0					X																	79951458		2203	4295	6498	SO:0001589	frameshift_variant	254065							g.chrX:79951458delG		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.3100delC	X.37:g.79951458delG	ENSP00000362372:p.Leu1034fs					BRWD3_ENST00000473691.1_5'UTR	p.L1034fs	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN			27	3316	-			1034					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Frame_Shift_Del	DEL	ENST00000373275.4	37	c.3100delC	CCDS14447.1																																																																																				0.308	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		7	8						7	8	---	---	---	---
