#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
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	lincRNA	SNP	A	A	G	rs374719458		TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373																																						ENST00000548109.1																			0																																																			0							g.chr14:19857036A>G																													14.37:g.19857036A>G														0	72	+									RNA	SNP	ENST00000548109.1	37																																																																																						0.373	RP11-146E13.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000409408.1			3	84	0	0	0	1	0	3	84				
TRHDE	29953	broad.mit.edu	37	12	72969157	72969157	+	Missense_Mutation	SNP	C	C	T	rs138433001	byFrequency	TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr12:72969157C>T	ENST00000261180.4	+	11	2215	c.2119C>T	c.(2119-2121)Cgg>Tgg	p.R707W	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	707					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R707W(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TCAATTAATCCGGAATCATGA	0.343																																						ENST00000261180.4																			1	Substitution - Missense(1)	p.R707W(1)	lung(1)	NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						c.(2119-2121)Cgg>Tgg		thyrotropin-releasing hormone degrading enzyme		C	TRP/ARG	0,4406		0,0,2203	98.0	97.0	97.0		2119	3.0	1.0	12	dbSNP_134	97	3,8597	3.0+/-9.4	0,3,4297	no	missense	TRHDE	NM_013381.2	101	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	707/1025	72969157	3,13003	2203	4300	6503	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72969157C>T	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.2119C>T	12.37:g.72969157C>T	ENSP00000261180:p.Arg707Trp					TRHDE_ENST00000549138.1_3'UTR	p.R707W	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN			11	2215	+			707					A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.2119C>T	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.992886	0.54041	0.0	3.49E-4	ENSG00000072657	ENST00000261180	T	0.03496	3.91	5.52	3.0	0.34707	.	0.149026	0.64402	D	0.000011	T	0.11324	0.0276	L	0.52573	1.65	0.53688	D	0.999974	D	0.76494	0.999	D	0.63793	0.918	T	0.01688	-1.1295	10	0.72032	D	0.01	.	12.9458	0.58371	0.7439:0.2561:0.0:0.0	.	707	Q9UKU6	TRHDE_HUMAN	W	707	ENSP00000261180:R707W	ENSP00000261180:R707W	R	+	1	2	TRHDE	71255424	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	2.731000	0.47343	1.032000	0.39892	-0.402000	0.06365	CGG		0.343	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		11	75	0	0	0	1	0	11	75				
DNM1P47	100216544	broad.mit.edu	37	15	102292723	102292723	+	RNA	SNP	A	A	C			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr15:102292723A>C	ENST00000561463.1	+	0	769									DNM1 pseudogene 47																		GCGTGGGAACAAGGAGACACT	0.587																																						ENST00000561463.1																			0																																																			0							g.chr15:102292723A>C	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292723A>C														0	769	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.587	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	24	0	0	0	1	0	3	24				
C6	729	broad.mit.edu	37	5	41172406	41172406	+	Silent	SNP	T	T	A			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr5:41172406T>A	ENST00000263413.3	-	9	1476	c.1212A>T	c.(1210-1212)acA>acT	p.T404T	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Silent_p.T404T	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	404	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CGCGTTTCTTTGTTTCAATCC	0.403																																						ENST00000263413.3																			0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96						c.(1210-1212)acA>acT		complement component 6							240.0	199.0	213.0					5																	41172406		2203	4300	6503	SO:0001819	synonymous_variant	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41172406T>A	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.1212A>T	5.37:g.41172406T>A						C6_ENST00000337836.5_Silent_p.T404T|C6_ENST00000475349.1_5'UTR	p.T404T	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN			9	1476	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	404			MACPF.			Silent	SNP	ENST00000263413.3	37	c.1212A>T	CCDS3936.1																																																																																				0.403	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			5	53	0	0	0	1	0	5	53				
INPP5E	56623	broad.mit.edu	37	9	139326360	139326360	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr9:139326360C>T	ENST00000371712.3	-	7	1867	c.1465G>A	c.(1465-1467)Gtg>Atg	p.V489M		NM_019892.4	NP_063945.2	Q10713	MPPA_HUMAN	inositol polyphosphate-5-phosphatase, 72 kDa	0					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|endometrium(1)|lung(4)|skin(3)	9		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		AGGGCGTCCACGACTGTGCGC	0.667																																						ENST00000371712.3																			0				NS(1)|endometrium(1)|lung(4)|skin(3)	9						c.(1465-1467)Gtg>Atg		inositol polyphosphate-5-phosphatase, 72 kDa							38.0	36.0	37.0					9																	139326360		2200	4299	6499	SO:0001583	missense	56623					cilium axoneme|cytoskeleton|Golgi cisterna membrane	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	g.chr9:139326360C>T	AF187891	CCDS7000.1	9q34.3	2011-02-11			ENSG00000148384	ENSG00000148384			21474	protein-coding gene	gene with protein product		613037	"""Joubert syndrome 1"""	JBTS1		10764818, 10577920, 19668216	Standard	NM_019892		Approved	PPI5PIV, CORS1	uc004cho.3	Q9NRR6	OTTHUMG00000020927	ENST00000371712.3:c.1465G>A	9.37:g.139326360C>T	ENSP00000360777:p.Val489Met						p.V489M	NM_019892.4	NP_063945.2	Q9NRR6	INP5E_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)	7	1867	-		Myeloproliferative disorder(178;0.0511)	489					B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Missense_Mutation	SNP	ENST00000371712.3	37	c.1465G>A	CCDS7000.1	.	.	.	.	.	.	.	.	.	.	c	13.48	2.251155	0.39797	.	.	ENSG00000148384	ENST00000371712	D	0.95980	-3.87	5.11	4.21	0.49690	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.94644	0.8273	M	0.73962	2.25	0.80722	D	1	P;P	0.44659	0.84;0.84	B;B	0.42138	0.255;0.377	D	0.94191	0.7441	10	0.62326	D	0.03	-23.9739	12.9698	0.58505	0.0:0.9211:0.0:0.0789	.	455;489	Q9NRR6-2;Q9NRR6	.;INP5E_HUMAN	M	489	ENSP00000360777:V489M	ENSP00000360777:V489M	V	-	1	0	INPP5E	138446181	1.000000	0.71417	0.818000	0.32626	0.008000	0.06430	3.067000	0.50010	1.286000	0.44565	0.650000	0.86243	GTG		0.667	INPP5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055058.1	NM_019892		6	21	0	0	0	1	0	6	21				
EP400	57634	broad.mit.edu	37	12	132547093	132547093	+	Silent	SNP	A	A	G	rs10902490|rs528214697	byFrequency	TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr12:132547093A>G	ENST00000333577.4	+	48	8398	c.8289A>G	c.(8287-8289)caA>caG	p.Q2763Q	EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000389562.2_Silent_p.Q2726Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2763	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)		agcagcaacaacagcagcagc	0.567																																						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.(8287-8289)caA>caG		E1A binding protein p400							25.0	29.0	28.0					12																	132547093		2173	4217	6390	SO:0001819	synonymous_variant	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.chr12:132547093A>G	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.8289A>G	12.37:g.132547093A>G						EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000330386.6_Silent_p.Q2646Q	p.Q2763Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8398	+	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	Silent	SNP	ENST00000333577.4	37	c.8289A>G																																																																																					0.567	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		7	61	0	0	0	1	0	7	61				
DNM1P47	100216544	broad.mit.edu	37	15	102292785	102292785	+	RNA	SNP	C	C	G	rs61084368|rs143389223	byFrequency	TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr15:102292785C>G	ENST00000561463.1	+	0	831									DNM1 pseudogene 47									p.Q125E(1)									TGCTGCTTCTCAGAGCTGCTG	0.602																																						ENST00000561463.1																			1	Substitution - Missense(1)	p.Q125E(1)	kidney(1)																																																0							g.chr15:102292785C>G	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292785C>G														0	831	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.602	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		5	43	0	0	0	1	0	5	43				
MUC16	94025	broad.mit.edu	37	19	9074563	9074563	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr19:9074563C>T	ENST00000397910.4	-	3	13086	c.12883G>A	c.(12883-12885)Gag>Aag	p.E4295K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4297	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.E4295K(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCTGTGGTCTCGGAGGAGCCA	0.517																																						ENST00000397910.4																			2	Substitution - Missense(2)	p.E4295K(2)	endometrium(2)	NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(12883-12885)Gag>Aag		mucin 16, cell surface associated							104.0	102.0	103.0					19																	9074563		2035	4183	6218	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9074563C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.12883G>A	19.37:g.9074563C>T	ENSP00000381008:p.Glu4295Lys						p.E4295K	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	13086	-			4297			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.12883G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	5.300	0.240794	0.10077	.	.	ENSG00000181143	ENST00000397910	T	0.40225	1.04	1.98	-0.267	0.12938	.	.	.	.	.	T	0.31358	0.0794	L	0.48642	1.525	.	.	.	B	0.06786	0.001	B	0.08055	0.003	T	0.32534	-0.9903	8	0.87932	D	0	.	4.4423	0.11580	0.0:0.6403:0.0:0.3597	.	4295	B5ME49	.	K	4295	ENSP00000381008:E4295K	ENSP00000381008:E4295K	E	-	1	0	MUC16	8935563	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.096000	0.15147	-0.004000	0.14419	-0.671000	0.03813	GAG		0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		21	35	0	0	0	1	0	21	35				
GLUD2	2747	broad.mit.edu	37	X	120182502	120182502	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chrX:120182502C>T	ENST00000328078.1	+	1	1041	c.964C>T	c.(964-966)Cgt>Tgt	p.R322C		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	322					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						ATATTTACATCGTTTTGGTGC	0.388																																						ENST00000328078.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						c.(964-966)Cgt>Tgt		glutamate dehydrogenase 2	L-Glutamic Acid(DB00142)|NADH(DB00157)						232.0	214.0	220.0					X																	120182502		2203	4298	6501	SO:0001583	missense	2747				glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding	g.chrX:120182502C>T	U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"""glutamate dehydrogenase pseudogene 1"""	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.964C>T	X.37:g.120182502C>T	ENSP00000327589:p.Arg322Cys						p.R322C	NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN			1	1041	+			322					B2R8G0|Q9UDQ4	Missense_Mutation	SNP	ENST00000328078.1	37	c.964C>T	CCDS14603.1	.	.	.	.	.	.	.	.	.	.	C	11.26	1.585948	0.28268	.	.	ENSG00000182890	ENST00000328078	D	0.96619	-4.07	1.61	-3.22	0.05125	Glutamate/phenylalanine/leucine/valine dehydrogenase, C-terminal (2);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.97542	0.9195	H	0.95574	3.69	0.80722	D	1	D	0.89917	1.0	D	0.68765	0.96	D	0.91385	0.5130	10	0.87932	D	0	-23.188	1.1669	0.01817	0.1558:0.3718:0.1544:0.3181	.	322	P49448	DHE4_HUMAN	C	322	ENSP00000327589:R322C	ENSP00000327589:R322C	R	+	1	0	GLUD2	120010183	1.000000	0.71417	0.007000	0.13788	0.878000	0.50629	1.209000	0.32357	-2.136000	0.00810	0.472000	0.43445	CGT		0.388	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058133.1	NM_012084		21	145	0	0	0	1	0	21	145				
PCDHA2	56146	broad.mit.edu	37	5	140175828	140175828	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr5:140175828G>A	ENST00000526136.1	+	1	1279	c.1279G>A	c.(1279-1281)Gca>Aca	p.A427T	PCDHA2_ENST00000520672.2_Missense_Mutation_p.A427T|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A427T|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	427	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGTGACCGCACGGGACGG	0.632																																						ENST00000526136.1																			0				NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71						c.(1279-1281)Gca>Aca									101.0	96.0	98.0					5																	140175828		2203	4300	6503	SO:0001583	missense	0							g.chr5:140175828G>A	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1279G>A	5.37:g.140175828G>A	ENSP00000431748:p.Ala427Thr					PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A427T|PCDHA2_ENST00000520672.2_Missense_Mutation_p.A427T|PCDHA1_ENST00000504120.2_Intron	p.A427T	NM_018905.2	NP_061728.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1279	+								O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	c.1279G>A	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	g	18.42	3.620473	0.66787	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.71341	-0.56;-0.56;-0.56	3.98	3.98	0.46160	Cadherin (5);Cadherin-like (1);	0.000000	0.39475	U	0.001346	D	0.89441	0.6716	H	0.98525	4.255	0.44247	D	0.997095	D;D;D	0.76494	0.993;0.996;0.999	P;P;D	0.63793	0.867;0.884;0.918	D	0.94032	0.7302	10	0.72032	D	0.01	.	16.4215	0.83760	0.0:0.0:1.0:0.0	.	427;427;427	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	T	427	ENSP00000430584:A427T;ENSP00000367372:A427T;ENSP00000431748:A427T	ENSP00000367372:A427T	A	+	1	0	PCDHA2	140156012	1.000000	0.71417	0.094000	0.20943	0.237000	0.25408	9.665000	0.98609	1.920000	0.55613	0.650000	0.86243	GCA		0.632	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		20	106	0	0	0	1	0	20	106				
VPS29	51699	broad.mit.edu	37	12	110930973	110930973	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr12:110930973C>T	ENST00000549578.1	-	3	324	c.259G>A	c.(259-261)Gga>Aga	p.G87R	VPS29_ENST00000360579.7_Missense_Mutation_p.G91R|VPS29_ENST00000549970.1_5'UTR|VPS29_ENST00000552130.2_5'UTR|VPS29_ENST00000447578.2_5'UTR|VPS29_ENST00000546588.1_Missense_Mutation_p.G119R	NM_016226.3	NP_057310.1	Q9UBQ0	VPS29_HUMAN	vacuolar protein sorting 29 homolog (S. cerevisiae)	87					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphoserine phosphatase activity (GO:0004647)			kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						ACTTGATGTCCATGGATCAGA	0.383																																						ENST00000549578.1																			0				kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.(259-261)Gga>Aga		vacuolar protein sorting 29 homolog (S. cerevisiae)							76.0	71.0	73.0					12																	110930973		1876	4110	5986	SO:0001583	missense	51699				protein transport	endosome membrane	metal ion binding|phosphoserine phosphatase activity	g.chr12:110930973C>T	AF193795	CCDS41832.1, CCDS53832.1, CCDS73525.1	12q24	2006-12-19	2006-12-19			ENSG00000111237			14340	protein-coding gene	gene with protein product		606932	"""vacuolar protein sorting 29 (yeast homolog)"", ""vacuolar protein sorting 29 (yeast)"""			11062004	Standard	NM_001282151		Approved	PEP11, DC7, DC15	uc001tqx.3	Q9UBQ0	OTTHUMG00000169527	ENST00000549578.1:c.259G>A	12.37:g.110930973C>T	ENSP00000447058:p.Gly87Arg					VPS29_ENST00000549970.1_5'UTR|VPS29_ENST00000546588.1_Missense_Mutation_p.G119R|VPS29_ENST00000552130.2_5'UTR|VPS29_ENST00000447578.2_5'UTR|VPS29_ENST00000360579.7_Missense_Mutation_p.G91R	p.G87R	NM_016226.3	NP_057310.1	Q9UBQ0	VPS29_HUMAN			3	324	-			87					Q502Y5|Q6FIF8|Q6IAH3|Q9H0W0|Q9NRP1|Q9NRU7	Missense_Mutation	SNP	ENST00000549578.1	37	c.259G>A	CCDS41832.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.386097|5.386097	0.95967|0.95967	.|.	.|.	ENSG00000111237|ENSG00000111237	ENST00000549578;ENST00000397678;ENST00000546588|ENST00000360579	T;T|.	0.25085|.	1.82;1.82|.	6.03|6.03	6.03|6.03	0.97812|0.97812	Calcineurin-like phosphoesterase superfamily domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.88709|.	0.6510|.	H|H	0.96175|0.96175	3.78|3.78	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|.	0.91080|.	0.4899|.	10|.	0.87932|.	D|.	0|.	-5.1632|-5.1632	20.5596|20.5596	0.99324|0.99324	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	87;91|.	Q9UBQ0;Q9UBQ0-2|.	VPS29_HUMAN;.|.	R|X	87;91;119|103	ENSP00000447058:G87R;ENSP00000449044:G119R|.	ENSP00000380795:G91R|.	G|W	-|-	1|2	0|0	VPS29|VPS29	109415356|109415356	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	7.758000|7.758000	0.85224|0.85224	2.868000|2.868000	0.98415|0.98415	0.555000|0.555000	0.69702|0.69702	GGA|TGG		0.383	VPS29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404623.1			3	46	0	0	0	1	0	3	46				
SORCS1	114815	broad.mit.edu	37	10	108431072	108431072	+	Missense_Mutation	SNP	C	C	G			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr10:108431072C>G	ENST00000263054.6	-	16	2119	c.2112G>C	c.(2110-2112)gaG>gaC	p.E704D	SORCS1_ENST00000344440.6_Missense_Mutation_p.E704D|SORCS1_ENST00000369698.1_Missense_Mutation_p.E239D	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	704					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TACACTTCCGCTCTGATTTTC	0.443																																						ENST00000263054.6																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127						c.(2110-2112)gaG>gaC		sortilin-related VPS10 domain containing receptor 1							257.0	214.0	229.0					10																	108431072		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108431072C>G	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.2112G>C	10.37:g.108431072C>G	ENSP00000263054:p.Glu704Asp					SORCS1_ENST00000369698.1_Missense_Mutation_p.E239D|SORCS1_ENST00000344440.6_Missense_Mutation_p.E704D	p.E704D	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	16	2119	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	704					A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.2112G>C	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	C	7.662	0.685056	0.14973	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	T;T;T	0.29655	1.56;1.56;1.56	5.45	2.46	0.29980	VPS10 (1);	0.178264	0.49305	D	0.000141	T	0.11495	0.0280	N	0.02916	-0.46	0.31775	N	0.631592	B;P;P;P;P	0.37352	0.295;0.458;0.591;0.456;0.591	B;B;B;B;B	0.36186	0.109;0.219;0.219;0.109;0.219	T	0.17048	-1.0382	9	.	.	.	-29.8449	9.0599	0.36427	0.0:0.6902:0.0:0.3098	.	704;704;704;704;704	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	D	239;704;704	ENSP00000358712:E239D;ENSP00000263054:E704D;ENSP00000345964:E704D	.	E	-	3	2	SORCS1	108421062	0.887000	0.30362	1.000000	0.80357	0.989000	0.77384	0.190000	0.17057	0.724000	0.32296	0.655000	0.94253	GAG		0.443	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		5	80	0	0	0	1	0	5	80				
DBT	1629	broad.mit.edu	37	1	100681632	100681632	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr1:100681632G>A	ENST00000370132.4	-	6	692	c.679C>T	c.(679-681)Cca>Tca	p.P227S	DBT_ENST00000370131.3_Missense_Mutation_p.P227S	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	227					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity (GO:0043754)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		GGTGGAGGTGGCATAATTTCA	0.398																																						ENST00000370132.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19						c.(679-681)Cca>Tca		dihydrolipoamide branched chain transacylase E2							262.0	256.0	258.0					1																	100681632		2203	4300	6503	SO:0001583	missense	1629				branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding	g.chr1:100681632G>A	BC016675	CCDS767.1	1p31	2008-02-05	2004-11-15		ENSG00000137992	ENSG00000137992			2698	protein-coding gene	gene with protein product		248610	"""dihydrolipoamide branched chain transacylase (E2 component of branched chain keto acid dehydrogenase complex; maple syrup urine disease)"""			1420314, 1429740	Standard	NM_001918		Approved		uc001dta.3	P11182	OTTHUMG00000010921	ENST00000370132.4:c.679C>T	1.37:g.100681632G>A	ENSP00000359151:p.Pro227Ser					DBT_ENST00000370131.3_Missense_Mutation_p.P227S	p.P227S	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)	6	692	-		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)	227					B2R811|Q5VVL8	Missense_Mutation	SNP	ENST00000370132.4	37	c.679C>T	CCDS767.1	.	.	.	.	.	.	.	.	.	.	g	11.02	1.517223	0.27123	.	.	ENSG00000137992	ENST00000543138;ENST00000370132;ENST00000370131	T;T	0.34667	1.4;1.35	5.66	3.69	0.42338	.	0.164392	0.53938	D	0.000046	T	0.08802	0.0218	N	0.19112	0.55	0.58432	D	0.999991	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.10965	-1.0607	10	0.17369	T	0.5	-4.0862	8.4231	0.32712	0.0652:0.113:0.7052:0.1166	.	46;227	F5H1F9;P11182	.;ODB2_HUMAN	S	46;227;227	ENSP00000359151:P227S;ENSP00000359150:P227S	ENSP00000359150:P227S	P	-	1	0	DBT	100454220	0.994000	0.37717	0.999000	0.59377	0.427000	0.31564	1.602000	0.36783	1.531000	0.49152	0.645000	0.84053	CCA		0.398	DBT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030101.2	NM_001918		5	128	0	0	0	1	0	5	128				
STAT3	6774	broad.mit.edu	37	17	40485979	40485979	+	Missense_Mutation	SNP	C	C	A			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr17:40485979C>A	ENST00000264657.5	-	9	1198	c.886G>T	c.(886-888)Gac>Tac	p.D296Y	STAT3_ENST00000389272.3_Missense_Mutation_p.D198Y|STAT3_ENST00000404395.3_Missense_Mutation_p.D296Y|STAT3_ENST00000588969.1_Missense_Mutation_p.D296Y|STAT3_ENST00000585517.1_Missense_Mutation_p.D296Y	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	296					acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		ACAATGGGGTCCCCTTTGTAG	0.438									Hyperimmunoglobulin E Recurrent Infection Syndrome																													ENST00000264657.5																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(886-888)Gac>Tac		signal transducer and activator of transcription 3 (acute-phase response factor)							69.0	69.0	69.0					17																	40485979		2203	4300	6503	SO:0001583	missense	6774	Hyperimmunoglobulin E Recurrent Infection Syndrome	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	g.chr17:40485979C>A	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"""SH2 domain containing"""	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.886G>T	17.37:g.40485979C>A	ENSP00000264657:p.Asp296Tyr					STAT3_ENST00000404395.3_Missense_Mutation_p.D296Y|STAT3_ENST00000389272.3_Missense_Mutation_p.D198Y|STAT3_ENST00000585517.1_Missense_Mutation_p.D296Y|STAT3_ENST00000588969.1_Missense_Mutation_p.D296Y	p.D296Y	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.139)	9	1198	-		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)	296					A8K7B8|K7ENL3|O14916|Q9BW54	Missense_Mutation	SNP	ENST00000264657.5	37	c.886G>T	CCDS32656.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.978082	0.92982	.	.	ENSG00000168610	ENST00000264657;ENST00000389272;ENST00000404395	T;T;T	0.67523	-0.27;-0.27;-0.27	5.61	5.61	0.85477	STAT transcription factor, all-alpha (2);STAT transcription factor, coiled coil (1);	0.000000	0.85682	D	0.000000	D	0.82742	0.5103	M	0.74467	2.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84100	0.0395	10	0.87932	D	0	-26.9262	19.6394	0.95751	0.0:1.0:0.0:0.0	.	296;296	P40763-2;P40763	.;STAT3_HUMAN	Y	296;198;296	ENSP00000264657:D296Y;ENSP00000373923:D198Y;ENSP00000384943:D296Y	ENSP00000264657:D296Y	D	-	1	0	STAT3	37739505	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	7.783000	0.85696	2.637000	0.89404	0.655000	0.94253	GAC		0.438	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319353.3	NM_139276, NM_003150		22	55	1	0	1.55795e-14	1	1.67125e-14	22	55				
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	lincRNA	SNP	G	G	A			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1				long intergenic non-protein coding RNA 264																		ACCAAGCCCAGTGGACAGATG	0.443																																						ENST00000412114.1																			0																																																			0							g.chr10:26880266G>A			10p12.1	2012-10-12	2011-08-11	2011-08-11	ENSG00000233261	ENSG00000233261		"""Long non-coding RNAs"""	17776	non-coding RNA	RNA, long non-coding			"""chromosome 10 open reading frame 50"", ""non-protein coding RNA 264"""	C10orf50, NCRNA00264			Standard	NR_026793		Approved	bA128B16.2	uc001ist.3		OTTHUMG00000017839		10.37:g.26880266G>A								NR_026793.1						0	501	+									RNA	SNP	ENST00000412114.1	37																																																																																						0.443	LINC00264-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000047265.1	XR_040540		3	40	0	0	0	1	0	3	40				
LGR5	8549	broad.mit.edu	37	12	71978097	71978097	+	Silent	SNP	C	C	A			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr12:71978097C>A	ENST00000266674.5	+	18	2618	c.2307C>A	c.(2305-2307)gcC>gcA	p.A769A	RP11-186F10.2_ENST00000546601.1_RNA|LGR5_ENST00000540815.2_Silent_p.A745A|LGR5_ENST00000536515.1_Silent_p.A697A			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	769					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)	p.A769A(1)	NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						AACACATTGCCCTGTTGCTCT	0.433																																						ENST00000266674.5																		NUP107/LGR5(2)	1	Substitution - coding silent(1)	p.A769A(1)	lung(1)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						c.(2305-2307)gcC>gcA		leucine-rich repeat containing G protein-coupled receptor 5							148.0	144.0	146.0					12																	71978097		2203	4300	6503	SO:0001819	synonymous_variant	8549					integral to plasma membrane	protein-hormone receptor activity	g.chr12:71978097C>A	AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"""GPCR / Class A : Orphans"""	4504	protein-coding gene	gene with protein product		606667	"""G protein-coupled receptor 49"", ""leucine-rich repeat-containing G protein-coupled receptor 5"""	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.2307C>A	12.37:g.71978097C>A						LGR5_ENST00000536515.1_Silent_p.A697A|LGR5_ENST00000540815.2_Silent_p.A745A	p.A769A			O75473	LGR5_HUMAN			18	2618	+			769					D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Silent	SNP	ENST00000266674.5	37	c.2307C>A	CCDS9000.1	.	.	.	.	.	.	.	.	.	.	C	6.362	0.434811	0.12045	.	.	ENSG00000139292	ENST00000451585	.	.	.	5.85	-11.7	0.00046	.	.	.	.	.	T	0.55657	0.1934	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70506	-0.4853	5	0.31617	T	0.26	.	12.05	0.53501	0.0783:0.6226:0.1578:0.1413	.	.	.	.	T	749	.	ENSP00000414152:P749T	P	+	1	0	LGR5	70264364	0.535000	0.26370	0.021000	0.16686	0.976000	0.68499	-0.180000	0.09754	-2.925000	0.00303	0.655000	0.94253	CCT		0.433	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1	NM_003667		24	85	1	0	3.7963e-18	1	4.14781e-18	24	85				
GAB4	128954	broad.mit.edu	37	22	17443635	17443635	+	Silent	SNP	G	G	A	rs372257366		TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr22:17443635G>A	ENST00000400588.1	-	10	1820	c.1713C>T	c.(1711-1713)ggC>ggT	p.G571G		NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	571								p.G571G(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				ACAGCTTGGCGCCCCTGGGAG	0.597																																						ENST00000400588.1																			1	Substitution - coding silent(1)	p.G571G(1)	lung(1)	breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(1711-1713)ggC>ggT		GRB2-associated binding protein family, member 4		G		0,4378		0,0,2189	44.0	50.0	48.0		1713	-4.9	0.2	22		48	1,8593		0,1,4296	no	coding-synonymous	GAB4	NM_001037814.1		0,1,6485	AA,AG,GG		0.0116,0.0,0.0077		571/575	17443635	1,12971	2189	4297	6486	SO:0001819	synonymous_variant	128954							g.chr22:17443635G>A	AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"""Pleckstrin homology (PH) domain containing"""	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.1713C>T	22.37:g.17443635G>A							p.G571G	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN			10	1820	-		all_epithelial(15;0.112)|Lung NSC(13;0.248)	571						Silent	SNP	ENST00000400588.1	37	c.1713C>T	CCDS42976.1																																																																																				0.597	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315426.1	XM_372882		8	43	0	0	0	1	0	8	43				
CDK5	1020	broad.mit.edu	37	7	150752140	150752140	+	Silent	SNP	G	G	T			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr7:150752140G>T	ENST00000485972.1	-	9	1305	c.624C>A	c.(622-624)gtC>gtA	p.V208V	CDK5_ENST00000297518.4_Silent_p.V176V	NM_004935.3	NP_004926.1	Q00535	CDK5_HUMAN	cyclin-dependent kinase 5	208	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|behavioral response to cocaine (GO:0048148)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|central nervous system neuron development (GO:0021954)|cerebellar cortex formation (GO:0021697)|corpus callosum development (GO:0022038)|cortical actin cytoskeleton organization (GO:0030866)|dendrite morphogenesis (GO:0048813)|embryo development (GO:0009790)|hippocampus development (GO:0021766)|intracellular protein transport (GO:0006886)|layer formation in cerebral cortex (GO:0021819)|motor neuron axon guidance (GO:0008045)|negative regulation of axon extension (GO:0030517)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron death (GO:1901215)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of proteolysis (GO:0045861)|negative regulation of synaptic plasticity (GO:0031914)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|nucleocytoplasmic transport (GO:0006913)|oligodendrocyte differentiation (GO:0048709)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphorylation (GO:0016310)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein targeting to membrane (GO:0090314)|protein autophosphorylation (GO:0046777)|protein localization to synapse (GO:0035418)|receptor catabolic process (GO:0032801)|receptor clustering (GO:0043113)|regulated secretory pathway (GO:0045055)|regulation of apoptotic process (GO:0042981)|regulation of cell cycle arrest (GO:0071156)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|rhythmic process (GO:0048511)|Schwann cell development (GO:0014044)|sensory perception of pain (GO:0019233)|serine phosphorylation of STAT3 protein (GO:0033136)|skeletal muscle tissue development (GO:0007519)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle exocytosis (GO:0016079)|visual learning (GO:0008542)	axon (GO:0030424)|cell junction (GO:0030054)|cyclin-dependent protein kinase 5 holoenzyme complex (GO:0016533)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|filopodium (GO:0030175)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activator activity (GO:0030549)|ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|ErbB-2 class receptor binding (GO:0005176)|ErbB-3 class receptor binding (GO:0043125)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1)	9		Breast(660;0.159)|Ovarian(593;0.182)	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)		ACTGGTCATCGACATCATTGC	0.552																																						ENST00000485972.1																			0				central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1)	9						c.(622-624)gtC>gtA		cyclin-dependent kinase 5							50.0	53.0	52.0					7																	150752140		1999	4168	6167	SO:0001819	synonymous_variant	1020				activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis	axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body	acetylcholine receptor activator activity|ATP binding|cyclin-dependent protein kinase activity|ErbB-2 class receptor binding|ErbB-3 class receptor binding|tau-protein kinase activity	g.chr7:150752140G>T	X66364	CCDS47748.1, CCDS55184.1	7q36	2011-11-08			ENSG00000164885	ENSG00000164885		"""Cyclin-dependent kinases"""	1774	protein-coding gene	gene with protein product		123831				8275715, 1639063	Standard	NM_001164410		Approved	PSSALRE	uc003wir.2	Q00535	OTTHUMG00000158414	ENST00000485972.1:c.624C>A	7.37:g.150752140G>T						CDK5_ENST00000297518.4_Silent_p.V176V	p.V208V	NM_004935.3	NP_004926.1	Q00535	CDK5_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)	9	1305	-		Breast(660;0.159)|Ovarian(593;0.182)	208			Protein kinase.		A1XKG3	Silent	SNP	ENST00000485972.1	37	c.624C>A	CCDS47748.1																																																																																				0.552	CDK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350965.3			7	28	1	0	0.248553	1	0.252838	7	28				
KIAA1217	56243	broad.mit.edu	37	10	24832821	24832821	+	Missense_Mutation	SNP	C	C	T	rs148213717		TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr10:24832821C>T	ENST00000376454.3	+	19	4652	c.4622C>T	c.(4621-4623)aCg>aTg	p.T1541M	KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000376451.2_Missense_Mutation_p.T1224M	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1541					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						ATGAACAGAACGGAGCTGAAC	0.502													C|||	1	0.000199681	0.0	0.0	5008	,	,		19575	0.001		0.0	False		,,,				2504	0.0					ENST00000376451.2																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(3670-3672)aCg>aTg		KIAA1217		C	,,MET/THR	1,4405	2.1+/-5.4	0,1,2202	78.0	76.0	77.0		,,4622	-1.1	0.0	10	dbSNP_134	77	0,8600		0,0,4300	no	intron,intron,missense	KIAA1217	NM_001098500.1,NM_001098501.1,NM_019590.3	,,81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,possibly-damaging	,,1541/1944	24832821	1,13005	2203	4300	6503	SO:0001583	missense	56243				embryonic skeletal system development	cytoplasm		g.chr10:24832821C>T	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.4622C>T	10.37:g.24832821C>T	ENSP00000365637:p.Thr1541Met					KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000376454.3_Missense_Mutation_p.T1541M	p.T1224M			Q5T5P2	SKT_HUMAN			14	3931	+			1541					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	c.3671C>T	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	C	8.020	0.759463	0.15846	2.27E-4	0.0	ENSG00000120549	ENST00000442879;ENST00000376454;ENST00000450158;ENST00000376451	T;T	0.32753	1.86;1.44	5.46	-1.07	0.09968	.	2.573990	0.01323	N	0.010993	T	0.18593	0.0446	L	0.29908	0.895	0.09310	N	1	B;P;B	0.35982	0.18;0.531;0.087	B;B;B	0.28465	0.057;0.09;0.006	T	0.05146	-1.0903	10	0.29301	T	0.29	.	3.209	0.06676	0.0952:0.392:0.2796:0.2332	.	1224;1224;1541	C9JRK3;Q5T5P2-3;Q5T5P2	.;.;SKT_HUMAN	M	1224;1541;1224;1224	ENSP00000365637:T1541M;ENSP00000365634:T1224M	ENSP00000365634:T1224M	T	+	2	0	KIAA1217	24872827	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.343000	0.07791	-0.854000	0.04131	-1.134000	0.01955	ACG		0.502	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		12	34	0	0	0	1	0	12	34				
AGGF1	55109	broad.mit.edu	37	5	76332448	76332448	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr5:76332448G>A	ENST00000312916.7	+	4	966	c.584G>A	c.(583-585)aGa>aAa	p.R195K		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	195					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|RNA processing (GO:0006396)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	nucleic acid binding (GO:0003676)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		GAAAGTTTGAGAGCTGCAGCA	0.393																																						ENST00000312916.7																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20						c.(583-585)aGa>aAa		angiogenic factor with G patch and FHA domains 1							85.0	86.0	86.0					5																	76332448		2203	4300	6503	SO:0001583	missense	55109				angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding	g.chr5:76332448G>A	AK001145	CCDS4035.1	5q13.3	2013-10-11			ENSG00000164252	ENSG00000164252		"""G patch domain containing"""	24684	protein-coding gene	gene with protein product		608464				18564129, 17103452	Standard	NM_018046		Approved	VG5Q, HSU84971, FLJ10283, GPATC7, GPATCH7	uc003ket.3	Q8N302	OTTHUMG00000102132	ENST00000312916.7:c.584G>A	5.37:g.76332448G>A	ENSP00000316109:p.Arg195Lys						p.R195K	NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)	4	966	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	195					O00581|Q53YS3|Q9BU84|Q9NW66	Missense_Mutation	SNP	ENST00000312916.7	37	c.584G>A	CCDS4035.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.599327	0.87055	.	.	ENSG00000164252	ENST00000312916	D	0.86097	-2.07	5.09	5.09	0.68999	.	0.105838	0.64402	D	0.000004	D	0.91078	0.7192	M	0.63843	1.955	0.80722	D	1	D	0.69078	0.997	D	0.72625	0.978	D	0.90581	0.4529	9	.	.	.	-7.9691	18.4903	0.90844	0.0:0.0:1.0:0.0	.	195	Q8N302	AGGF1_HUMAN	K	195	ENSP00000316109:R195K	.	R	+	2	0	AGGF1	76368204	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.833000	0.92089	2.363000	0.80096	0.585000	0.79938	AGA		0.393	AGGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219971.2	NM_018046		4	141	0	0	0	1	0	4	141				
ALPK3	57538	broad.mit.edu	37	15	85403112	85403112	+	Silent	SNP	C	C	T	rs145385507	byFrequency	TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr15:85403112C>T	ENST00000258888.5	+	8	4844	c.4677C>T	c.(4675-4677)acC>acT	p.T1559T		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1559	Ig-like 2.				heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CGGCCTCCACCGACTTCTGCC	0.677																																						ENST00000258888.5																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(4675-4677)acC>acT		alpha-kinase 3		C		10,4396	17.9+/-39.9	0,10,2193	57.0	55.0	56.0		4677	-11.0	0.0	15	dbSNP_134	56	0,8598		0,0,4299	no	coding-synonymous	ALPK3	NM_020778.4		0,10,6492	TT,TC,CC		0.0,0.227,0.0769		1559/1908	85403112	10,12994	2203	4299	6502	SO:0001819	synonymous_variant	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85403112C>T	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.4677C>T	15.37:g.85403112C>T							p.T1559T	NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		8	4844	+			1559			Ig-like 2.		Q9P2L6	Silent	SNP	ENST00000258888.5	37	c.4677C>T	CCDS10333.1																																																																																				0.677	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		24	70	0	0	0	1	0	24	70				
BACH2	60468	broad.mit.edu	37	6	90660405	90660405	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr6:90660405G>A	ENST00000257749.4	-	7	2127	c.1420C>T	c.(1420-1422)Ctc>Ttc	p.L474F	BACH2_ENST00000343122.3_Missense_Mutation_p.L474F|RP3-512E2.2_ENST00000445838.1_RNA|RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000537989.1_Missense_Mutation_p.L474F	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	474						cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		GAGCTGGGGAGGGACTGGCCG	0.617																																						ENST00000257749.4																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45						c.(1420-1422)Ctc>Ttc		BTB and CNC homology 1, basic leucine zipper transcription factor 2							42.0	48.0	46.0					6																	90660405		2203	4300	6503	SO:0001583	missense	60468					nucleus	protein dimerization activity|sequence-specific DNA binding	g.chr6:90660405G>A	AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.1420C>T	6.37:g.90660405G>A	ENSP00000257749:p.Leu474Phe					BACH2_ENST00000343122.3_Missense_Mutation_p.L474F|BACH2_ENST00000537989.1_Missense_Mutation_p.L474F|RP3-512E2.2_ENST00000445838.1_RNA|RP3-512E2.2_ENST00000413986.1_RNA	p.L474F	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0799)	7	2127	-		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)	474					E1P518|Q59H70|Q5T793|Q9NTS5	Missense_Mutation	SNP	ENST00000257749.4	37	c.1420C>T	CCDS5026.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.295449	0.40594	.	.	ENSG00000112182	ENST00000257749;ENST00000537989;ENST00000343122	T;T;T	0.55588	0.51;0.51;0.51	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.26702	0.0653	L	0.29908	0.895	0.58432	D	0.999994	P	0.42409	0.779	B	0.35182	0.197	T	0.07829	-1.0752	10	0.29301	T	0.29	-13.2298	17.8011	0.88587	0.0:0.0:1.0:0.0	.	474	Q9BYV9	BACH2_HUMAN	F	474	ENSP00000257749:L474F;ENSP00000437473:L474F;ENSP00000345642:L474F	ENSP00000257749:L474F	L	-	1	0	BACH2	90717126	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.013000	0.93629	2.428000	0.82296	0.557000	0.71058	CTC		0.617	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2	NM_021813		17	31	0	0	0	1	0	17	31				
FGFR2	2263	broad.mit.edu	37	10	123325040	123325040	+	Silent	SNP	G	G	A	rs55806379		TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr10:123325040G>A	ENST00000358487.5	-	3	560	c.288C>T	c.(286-288)ggC>ggT	p.G96G	FGFR2_ENST00000346997.2_Silent_p.G96G|FGFR2_ENST00000369059.1_Intron|FGFR2_ENST00000351936.6_Silent_p.G96G|FGFR2_ENST00000357555.5_Intron|FGFR2_ENST00000360144.3_Intron|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000369061.4_Silent_p.G96G|FGFR2_ENST00000359354.2_Silent_p.G96G|FGFR2_ENST00000369056.1_Silent_p.G96G|FGFR2_ENST00000369060.4_Silent_p.G96G|FGFR2_ENST00000457416.2_Silent_p.G96G|FGFR2_ENST00000356226.4_Intron	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	96	Ig-like C2-type 1.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	TAGGCGTGGCGCCCTTTATCT	0.522		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				G|||	1	0.000199681	0.0008	0.0	5008	,	,		17730	0.0		0.0	False		,,,				2504	0.0					ENST00000358487.5		5		Dom	yes		10	10q26	2263	Mis	fibroblast growth factor receptor 2	yes	"""Crouzon, Pfeiffer, and Apert syndromes"""	E			"""gastric. NSCLC, endometrial"""		0				breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181						c.(286-288)ggC>ggT		fibroblast growth factor receptor 2	Palifermin(DB00039)						182.0	154.0	164.0					10																	123325040		2203	4300	6503	SO:0001819	synonymous_variant	2263	Saethre-Chotzen syndrome;Apert syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	g.chr10:123325040G>A	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3689	protein-coding gene	gene with protein product	"""Crouzon syndrome"", ""Pfeiffer syndrome"""	176943	"""bacteria-expressed kinase"", ""keratinocyte growth factor receptor"", ""craniofacial dysostosis 1"", ""Jackson-Weiss syndrome"""	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.288C>T	10.37:g.123325040G>A						FGFR2_ENST00000357555.5_Intron|FGFR2_ENST00000369059.1_Intron|FGFR2_ENST00000457416.2_Silent_p.G96G|FGFR2_ENST00000360144.3_Intron|FGFR2_ENST00000346997.2_Silent_p.G96G|FGFR2_ENST00000359354.2_Silent_p.G96G|FGFR2_ENST00000369056.1_Silent_p.G96G|FGFR2_ENST00000369060.4_Silent_p.G96G|FGFR2_ENST00000369061.4_Silent_p.G96G|FGFR2_ENST00000356226.4_Intron|FGFR2_ENST00000351936.6_Silent_p.G96G|FGFR2_ENST00000490349.1_5'UTR	p.G96G	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	3	560	-		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	96			Ig-like C2-type 1.		B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Silent	SNP	ENST00000358487.5	37	c.288C>T	CCDS31298.1																																																																																				0.522	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1	NM_022976, NM_000141		6	123	0	0	0	1	0	6	123				
TCP11	6954	broad.mit.edu	37	6	35089986	35089986	+	Silent	SNP	G	G	A	rs144798611		TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr6:35089986G>A	ENST00000512012.1	-	4	642	c.486C>T	c.(484-486)taC>taT	p.Y162Y	TCP11_ENST00000412155.2_Silent_p.Y124Y|TCP11_ENST00000444780.2_Silent_p.Y170Y|TCP11_ENST00000373979.2_Silent_p.Y100Y|TCP11_ENST00000311875.5_Silent_p.Y175Y|TCP11_ENST00000373974.4_Silent_p.Y129Y|TCP11_ENST00000418521.2_Silent_p.Y99Y|TCP11_ENST00000244645.3_Silent_p.Y100Y			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	162					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						TGTTGAGAACGTACTTAGAGA	0.468																																						ENST00000311875.5																			0				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						c.(523-525)taC>taT		t-complex 11, testis-specific		G	,	0,4406		0,0,2203	150.0	135.0	140.0		525,300	-1.4	0.6	6	dbSNP_134	140	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	TCP11	NM_001093728.1,NM_018679.4	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	175/517,100/442	35089986	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6954				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr6:35089986G>A		CCDS4799.1, CCDS47413.1, CCDS59015.1, CCDS59016.1, CCDS59017.1, CCDS59018.1	6p21.31	2012-09-20	2012-09-20		ENSG00000124678	ENSG00000124678			11658	protein-coding gene	gene with protein product	"""fertilization-promoting peptide receptor"""	186982	"""t-complex 11 (a murine tcp homolog)"", ""t-complex 11 homolog (mouse)"""	D6S230E		1427894, 11756566, 21597245	Standard	NM_001093728		Approved	KIAA0229, FPPR	uc003okd.2	Q8WWU5	OTTHUMG00000014560	ENST00000512012.1:c.486C>T	6.37:g.35089986G>A						TCP11_ENST00000412155.2_Silent_p.Y124Y|TCP11_ENST00000244645.3_Silent_p.Y100Y|TCP11_ENST00000512012.1_Silent_p.Y162Y|TCP11_ENST00000373979.2_Silent_p.Y100Y|TCP11_ENST00000373974.4_Silent_p.Y129Y|TCP11_ENST00000418521.2_Silent_p.Y99Y|TCP11_ENST00000444780.2_Silent_p.Y170Y	p.Y175Y			Q8WWU5	TCP11_HUMAN			5	942	-			162					B2RCE9|B3KQ27|B7Z7B5|B7Z7G1|B7Z7H4|B7Z7S8|E7EP29|J3KNG1|Q8NF85|Q9NQZ9|Q9NR39	Silent	SNP	ENST00000512012.1	37	c.525C>T																																																																																					0.468	TCP11-014	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000370354.1	NM_001093728		4	129	0	0	0	1	0	4	129				
DNM1P47	100216544	broad.mit.edu	37	15	102292767	102292767	+	RNA	SNP	C	C	T	rs113047734		TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr15:102292767C>T	ENST00000561463.1	+	0	813									DNM1 pseudogene 47																		CACAGCGGCGCGACGAGATGC	0.597																																						ENST00000561463.1																			0																																																			0							g.chr15:102292767C>T	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292767C>T														0	813	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.597	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		8	23	0	0	0	1	0	8	23				
CPNE9	151835	broad.mit.edu	37	3	9754692	9754692	+	Missense_Mutation	SNP	A	A	C			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr3:9754692A>C	ENST00000383832.3	+	10	769	c.579A>C	c.(577-579)aaA>aaC	p.K193N	CPNE9_ENST00000383831.3_Missense_Mutation_p.K193N	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	193	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					AGGTTGTGAAAAACACGCTGA	0.527																																						ENST00000383832.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(577-579)aaA>aaC		copine family member IX							43.0	43.0	43.0					3																	9754692		2040	4223	6263	SO:0001583	missense	151835							g.chr3:9754692A>C		CCDS2574.2	3p25.3	2008-10-30			ENSG00000144550	ENSG00000144550			24336	protein-coding gene	gene with protein product						9430674	Standard	XM_006712990		Approved	KIAA4217	uc003bsd.3	Q8IYJ1	OTTHUMG00000128418	ENST00000383832.3:c.579A>C	3.37:g.9754692A>C	ENSP00000373343:p.Lys193Asn					CPNE9_ENST00000383831.3_Missense_Mutation_p.K193N	p.K193N	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN			10	769	+	Medulloblastoma(99;0.227)		193			C2 2.		A1L430|A6NDX6|A8MSP8	Missense_Mutation	SNP	ENST00000383832.3	37	c.579A>C	CCDS2574.2	.	.	.	.	.	.	.	.	.	.	A	19.96	3.924258	0.73213	.	.	ENSG00000144550	ENST00000383832;ENST00000383831	T;T	0.71579	-0.58;-0.58	4.76	-0.84	0.10755	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.056776	0.64402	D	0.000002	T	0.79470	0.4451	M	0.84773	2.715	0.44067	D	0.99681	P	0.45011	0.848	P	0.56278	0.795	T	0.78420	-0.2211	10	0.54805	T	0.06	.	9.952	0.41645	0.4031:0.0:0.5969:0.0	.	193	Q8IYJ1	CPNE9_HUMAN	N	193	ENSP00000373343:K193N;ENSP00000373342:K193N	ENSP00000373342:K193N	K	+	3	2	CPNE9	9729692	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	0.615000	0.24329	-0.102000	0.12197	0.260000	0.18958	AAA		0.527	CPNE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250205.4	NM_001033755		6	19	0	0	0	1	0	6	19				
COIL	8161	broad.mit.edu	37	17	55028138	55028138	+	Missense_Mutation	SNP	A	A	C			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr17:55028138A>C	ENST00000240316.4	-	2	499	c.465T>G	c.(463-465)gaT>gaG	p.D155E		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	155						Cajal body (GO:0015030)|cytoplasm (GO:0005737)|female germ cell nucleus (GO:0001674)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	disulfide oxidoreductase activity (GO:0015036)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					TGACAGTCTGATCTGTGACAG	0.388																																						ENST00000240316.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15						c.(463-465)gaT>gaG		coilin							154.0	146.0	148.0					17																	55028138		2203	4300	6503	SO:0001583	missense	8161					Cajal body|nucleolus	protein C-terminus binding	g.chr17:55028138A>C	U06632	CCDS11592.1	17q22	2012-10-02			ENSG00000121058	ENSG00000121058			2184	protein-coding gene	gene with protein product		600272				7971277	Standard	NM_004645		Approved	CLN80, p80-coilin	uc002iuu.3	P38432	OTTHUMG00000178126	ENST00000240316.4:c.465T>G	17.37:g.55028138A>C	ENSP00000240316:p.Asp155Glu						p.D155E	NM_004645.2	NP_004636.1	P38432	COIL_HUMAN			2	499	-	Breast(9;6.15e-08)		155					B2R931	Missense_Mutation	SNP	ENST00000240316.4	37	c.465T>G	CCDS11592.1	.	.	.	.	.	.	.	.	.	.	A	13.44	2.238436	0.39598	.	.	ENSG00000121058	ENST00000240316	T	0.39406	1.08	5.66	-5.36	0.02689	.	1.028920	0.07634	N	0.929089	T	0.22898	0.0553	L	0.29908	0.895	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.20907	-1.0261	10	0.28530	T	0.3	-1.6388	2.5299	0.04700	0.2851:0.4181:0.1398:0.1569	.	155	P38432	COIL_HUMAN	E	155	ENSP00000240316:D155E	ENSP00000240316:D155E	D	-	3	2	COIL	52383137	0.001000	0.12720	0.000000	0.03702	0.686000	0.39977	-0.307000	0.08167	-0.982000	0.03515	0.528000	0.53228	GAT		0.388	COIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440618.1			4	165	0	0	0	1	0	4	165				
POU2F2	5452	broad.mit.edu	37	19	42597984	42597984	+	Missense_Mutation	SNP	T	T	G			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr19:42597984T>G	ENST00000526816.2	-	12	1210	c.1195A>C	c.(1195-1197)Aca>Cca	p.T399P	POU2F2_ENST00000533720.1_Missense_Mutation_p.T383P|POU2F2_ENST00000560558.1_Missense_Mutation_p.T344P|POU2F2_ENST00000529952.1_Missense_Mutation_p.T399P|POU2F2_ENST00000342301.4_Missense_Mutation_p.T399P|POU2F2_ENST00000529067.1_Missense_Mutation_p.T383P|POU2F2_ENST00000389341.5_Missense_Mutation_p.T383P|POU2F2_ENST00000560398.1_Missense_Mutation_p.T405P			P09086	PO2F2_HUMAN	POU class 2 homeobox 2	399	Leucine-zipper.				cell maturation (GO:0048469)|humoral immune response (GO:0006959)|immunoglobulin secretion involved in immune response (GO:0002380)|mature B cell differentiation (GO:0002335)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)			Dolutegravir(DB08930)	CCCTGACCTGTTGTGCTCAGA	0.607																																						ENST00000389341.5																			0				kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1147-1149)Aca>Cca		POU class 2 homeobox 2							155.0	142.0	146.0					19																	42597984		2203	4300	6503	SO:0001583	missense	5452				humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:42597984T>G		CCDS33035.1, CCDS56094.1, CCDS56095.1, CCDS58665.1	19q13.2	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9213	protein-coding gene	gene with protein product		164176	"""POU domain class 2, transcription factor 2"""	OTF2			Standard	NM_001207026		Approved	OCT2	uc002osp.3	P09086		ENST00000526816.2:c.1195A>C	19.37:g.42597984T>G	ENSP00000431603:p.Thr399Pro					POU2F2_ENST00000560558.1_Missense_Mutation_p.T344P|POU2F2_ENST00000560398.1_Missense_Mutation_p.T405P|POU2F2_ENST00000533720.1_Missense_Mutation_p.T383P|POU2F2_ENST00000342301.4_Missense_Mutation_p.T399P|POU2F2_ENST00000526816.2_Missense_Mutation_p.T399P|POU2F2_ENST00000529067.1_Missense_Mutation_p.T383P|POU2F2_ENST00000529952.1_Missense_Mutation_p.T399P	p.T383P	NM_001207025.2|NM_001247994.1|NM_002698.4	NP_001193954.1|NP_001234923.1|NP_002689.1	P09086	PO2F2_HUMAN			12	1213	-		Prostate(69;0.059)	399					Q16648|Q7M4M8|Q9BRS4	Missense_Mutation	SNP	ENST00000526816.2	37	c.1147A>C	CCDS56095.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.058355	0.76074	.	.	ENSG00000028277	ENST00000389341;ENST00000342301;ENST00000292077;ENST00000533720;ENST00000526816;ENST00000529067;ENST00000529952	D;D;D;D;D;D	0.84442	-1.73;-1.85;-1.84;-1.66;-1.51;-1.72	3.98	3.98	0.46160	.	7.719930	0.00166	N	0.000001	D	0.88629	0.6488	N	0.19112	0.55	0.51767	D	0.999938	D;P;D	0.76494	0.997;0.932;0.999	D;P;D	0.78314	0.986;0.84;0.991	T	0.77832	-0.2441	10	0.66056	D	0.02	.	12.2972	0.54854	0.0:0.0:0.0:1.0	.	383;399;383	P09086-4;P09086;P09086-3	.;PO2F2_HUMAN;.	P	383;399;399;383;398;383;399	ENSP00000373992:T383P;ENSP00000339369:T399P;ENSP00000437221:T383P;ENSP00000431603:T398P;ENSP00000437224:T383P;ENSP00000436988:T399P	ENSP00000292077:T399P	T	-	1	0	POU2F2	47289824	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.719000	0.68462	1.815000	0.52974	0.459000	0.35465	ACA		0.607	POU2F2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387329.3			5	142	0	0	0	1	0	5	142				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522815	95522815	+	RNA	SNP	A	A	G	rs372261324		TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr2:95522815A>G	ENST00000432432.2	-	0	212					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene																		ATCTTCTGCAATTCGGAGTCC	0.652																																						ENST00000432432.2																			0																																																			0							g.chr2:95522815A>G			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522815A>G								NR_040113.1						0	212	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.652	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			4	68	0	0	0	1	0	4	68				
CREBBP	1387	broad.mit.edu	37	16	3817735	3817735	+	Missense_Mutation	SNP	T	T	C			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr16:3817735T>C	ENST00000262367.5	-	16	4045	c.3236A>G	c.(3235-3237)cAg>cGg	p.Q1079R	CREBBP_ENST00000382070.3_Missense_Mutation_p.Q1041R	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1079					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TTTGCGCGGCTGCGAAGGAGA	0.418			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"""T, N, F, Mis, O"""	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"""MLL, MORF, RUNXBP2"""		"""ALL, AML, DLBCL, B-NHL """		0				NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(3235-3237)cAg>cGg		CREB binding protein							185.0	170.0	175.0					16																	3817735		2197	4300	6497	SO:0001583	missense	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3817735T>C	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.3236A>G	16.37:g.3817735T>C	ENSP00000262367:p.Gln1079Arg					CREBBP_ENST00000382070.3_Missense_Mutation_p.Q1041R	p.Q1079R	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	16	4045	-		Ovarian(90;0.0266)	1079					D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.3236A>G	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	T	10.53	1.375527	0.24857	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	T;T	0.16597	2.33;2.33	5.61	5.61	0.85477	Bromodomain (1);	0.000000	0.64402	D	0.000001	T	0.37404	0.1002	M	0.62723	1.935	0.80722	D	1	D;D	0.54601	0.967;0.967	D;D	0.65140	0.932;0.932	T	0.02774	-1.1112	10	0.31617	T	0.26	-12.9594	16.1054	0.81216	0.0:0.0:0.0:1.0	.	1109;1079	Q4LE28;Q92793	.;CBP_HUMAN	R	1079;1109;1041	ENSP00000262367:Q1079R;ENSP00000371502:Q1041R	ENSP00000262367:Q1079R	Q	-	2	0	CREBBP	3757736	1.000000	0.71417	0.997000	0.53966	0.031000	0.12232	7.158000	0.77470	2.266000	0.75297	0.533000	0.62120	CAG		0.418	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		5	110	0	0	0	1	0	5	110				
PNMAL2	57469	broad.mit.edu	37	19	46997772	46997772	+	Intron	SNP	C	C	T			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr19:46997772C>T	ENST00000377655.2	-	1	734				AC011484.1_ENST00000377652.3_5'UTR|PNMAL2_ENST00000594749.1_Intron|PNMAL2_ENST00000599531.1_Silent_p.Q317Q			Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2											central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		CCCCACTTTCCTGCGAGTCGC	0.597																																						ENST00000599531.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8						c.(949-951)caG>caA		paraneoplastic Ma antigen family-like 2							73.0	81.0	78.0					19																	46997772		2192	4291	6483	SO:0001627	intron_variant	57469							g.chr19:46997772C>T	AB033009	CCDS59400.1	19q13.32	2014-02-12	2012-02-09		ENSG00000204851	ENSG00000204851		"""Paraneoplastic Ma antigens"""	29206	protein-coding gene	gene with protein product			"""PNMA-like 2"""			10574461	Standard	NM_020709		Approved	KIAA1183	uc002pes.2	Q9ULN7		ENST00000377655.2:c.734+216G>A	19.37:g.46997772C>T						PNMAL2_ENST00000594749.1_Intron|PNMAL2_ENST00000377655.2_Intron|AC011484.1_ENST00000377652.3_5'UTR	p.Q317Q	NM_020709.1	NP_065760.1	Q9ULN7	PNML2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)	1	1983	-		Ovarian(192;0.00965)|all_neural(266;0.0459)	317					C9JGD5|M0R374|Q08E79|Q0D2F9|Q6ZVD1	Silent	SNP	ENST00000377655.2	37	c.951G>A																																																																																					0.597	PNMAL2-201	KNOWN	basic	protein_coding	protein_coding		NM_020709		10	86	0	0	0	1	0	10	86				
ARNT2	9915	broad.mit.edu	37	15	80806707	80806707	+	Missense_Mutation	SNP	G	G	C			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr15:80806707G>C	ENST00000303329.4	+	8	1003	c.838G>C	c.(838-840)Gtc>Ctc	p.V280L	ARNT2_ENST00000527771.1_Missense_Mutation_p.V269L|ARNT2_ENST00000533983.1_Missense_Mutation_p.V269L	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	280					central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			ATATGCTGTGGTCCACTGTAC	0.488																																						ENST00000533983.1																			0				NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35						c.(805-807)Gtc>Ctc		aryl-hydrocarbon receptor nuclear translocator 2							181.0	176.0	178.0					15																	80806707		2203	4300	6503	SO:0001583	missense	9915				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr15:80806707G>C	AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379		"""Basic helix-loop-helix proteins"""	16876	protein-coding gene	gene with protein product		606036				11247670	Standard	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.838G>C	15.37:g.80806707G>C	ENSP00000307479:p.Val280Leu					ARNT2_ENST00000527771.1_Missense_Mutation_p.V269L|ARNT2_ENST00000303329.4_Missense_Mutation_p.V280L	p.V269L			Q9HBZ2	ARNT2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.134)		9	1144	+			280					B4DIS7|O15024|Q8IYC2	Missense_Mutation	SNP	ENST00000303329.4	37	c.805G>C	CCDS32307.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.800120	0.90538	.	.	ENSG00000172379	ENST00000360062;ENST00000303329;ENST00000540859	T	0.17370	2.28	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.38772	0.1053	M	0.85945	2.785	0.80722	D	1	P	0.39094	0.659	P	0.50136	0.632	T	0.16453	-1.0402	10	0.33141	T	0.24	.	16.9578	0.86264	0.0:0.0:1.0:0.0	.	280	Q9HBZ2	ARNT2_HUMAN	L	269;280;280	ENSP00000307479:V280L	ENSP00000307479:V280L	V	+	1	0	ARNT2	78593762	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.170000	0.89673	2.614000	0.88457	0.585000	0.79938	GTC		0.488	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384389.2			55	121	0	0	0	1	0	55	121				
HIST1H1D	3007	broad.mit.edu	37	6	26235094	26235094	+	Missense_Mutation	SNP	T	T	C			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr6:26235094T>C	ENST00000244534.5	-	1	122	c.68A>G	c.(67-69)aAg>aGg	p.K23R		NM_005320.2	NP_005311.1	P16402	H13_HUMAN	histone cluster 1, H1d	23					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				CTTCTTCGCCTTTTTCTTCAC	0.507																																						ENST00000244534.5																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						c.(67-69)aAg>aGg		histone cluster 1, H1d							70.0	65.0	67.0					6																	26235094		2203	4300	6503	SO:0001583	missense	3007				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26235094T>C	M60747	CCDS4597.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000124575	ENSG00000124575		"""Histones / Replication-dependent"""	4717	protein-coding gene	gene with protein product		142210	"""H1 histone family, member 3"", ""histone 1, H1d"""	H1F3		1916825, 12408966	Standard	NM_005320		Approved	H1.3, H1d, H1s-2	uc003nhd.3	P16402	OTTHUMG00000014432	ENST00000244534.5:c.68A>G	6.37:g.26235094T>C	ENSP00000244534:p.Lys23Arg						p.K23R	NM_005320.2	NP_005311.1	P16402	H13_HUMAN			1	122	-		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)	23					B2R751|Q2M2I2	Missense_Mutation	SNP	ENST00000244534.5	37	c.68A>G	CCDS4597.1	.	.	.	.	.	.	.	.	.	.	.	3.225	-0.158697	0.06544	.	.	ENSG00000124575	ENST00000244534	T	0.10960	2.82	5.12	5.12	0.69794	.	0.338812	0.27464	N	0.019249	T	0.02083	0.0065	N	0.08118	0	0.46376	D	0.99901	B	0.28512	0.214	B	0.24269	0.052	T	0.47471	-0.9115	10	0.15499	T	0.54	-8.8832	14.3897	0.66970	0.0:0.0:0.0:1.0	.	23	P16402	H13_HUMAN	R	23	ENSP00000244534:K23R	ENSP00000244534:K23R	K	-	2	0	HIST1H1D	26343073	0.998000	0.40836	0.998000	0.56505	0.073000	0.16967	3.034000	0.49751	2.072000	0.62099	0.533000	0.62120	AAG		0.507	HIST1H1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040095.1	NM_005320		4	80	0	0	0	1	0	4	80				
HS6ST1	9394	broad.mit.edu	37	2	129026419	129026419	+	Nonsense_Mutation	SNP	G	G	A			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	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	42	0	0	0	1	0	3	42				
LRP1B	53353	broad.mit.edu	37	2	141739814	141739814	+	Silent	SNP	G	G	A	rs138953199	byFrequency	TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr2:141739814G>A	ENST00000389484.3	-	18	3773	c.2802C>T	c.(2800-2802)tgC>tgT	p.C934C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	934	LDL-receptor class A 5. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCCCATTTCCGCAAGAAAACT	0.418										TSP Lung(27;0.18)			G|||	2	0.000399361	0.0015	0.0	5008	,	,		17110	0.0		0.0	False		,,,				2504	0.0				Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(2800-2802)tgC>tgT		low density lipoprotein receptor-related protein 1B		G		11,4395	17.9+/-39.9	0,11,2192	118.0	105.0	109.0		2802	3.0	1.0	2	dbSNP_134	109	0,8600		0,0,4300	no	coding-synonymous	LRP1B	NM_018557.2		0,11,6492	AA,AG,GG		0.0,0.2497,0.0846		934/4600	141739814	11,12995	2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141739814G>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.2802C>T	2.37:g.141739814G>A		TSP Lung(27;0.18)					p.C934C	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	18	3773	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	934			LDL-receptor class A 5.		Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.2802C>T	CCDS2182.1																																																																																				0.418	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		13	30	0	0	0	1	0	13	30				
C10orf54	64115	broad.mit.edu	37	10	73521442	73521442	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr10:73521442C>T	ENST00000394957.3	-	2	482	c.424G>A	c.(424-426)Ggc>Agc	p.G142S	CDH23_ENST00000224721.6_Intron|C10orf54_ENST00000481568.2_5'UTR	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN	chromosome 10 open reading frame 54	142	Ig-like.				BMP signaling pathway (GO:0030509)|negative regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000562)|negative regulation of T cell cytokine production (GO:0002725)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of stem cell differentiation (GO:2000738)|stem cell differentiation (GO:0048863)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						CAGTAGAGGCCGCTATCCAGC	0.642																																						ENST00000394957.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						c.(424-426)Ggc>Agc		chromosome 10 open reading frame 54							57.0	52.0	54.0					10																	73521442		2203	4300	6503	SO:0001583	missense	64115					integral to membrane	receptor activity	g.chr10:73521442C>T	AF193048	CCDS31218.1	10q22.1	2013-11-28			ENSG00000107738	ENSG00000107738		"""Immunoglobulin superfamily / V-set domain containing"""	30085	protein-coding gene	gene with protein product	"""stress induced secreted protein 1"""	615608				12975309	Standard	NM_022153		Approved	SISP1, GI24, B7-H5, B7H5	uc001jsd.3	Q9H7M9	OTTHUMG00000018426	ENST00000394957.3:c.424G>A	10.37:g.73521442C>T	ENSP00000378409:p.Gly142Ser					CDH23_ENST00000224721.6_Intron|C10orf54_ENST00000481568.1_5'UTR	p.G142S	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN			2	482	-			142			Ig-like.		A1L0X9|A4ZYV1|A8MVH5|Q6UXF3|Q8WUG3|Q8WYZ8	Missense_Mutation	SNP	ENST00000394957.3	37	c.424G>A	CCDS31218.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.043517	0.93685	.	.	ENSG00000107738	ENST00000394957;ENST00000263569	T	0.14144	2.53	5.75	5.75	0.90469	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.40767	0.1130	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.12372	-1.0550	10	0.87932	D	0	-16.6049	19.9417	0.97165	0.0:1.0:0.0:0.0	.	138;142	Q2TA85;Q9H7M9	.;GI24_HUMAN	S	142;138	ENSP00000378409:G142S	ENSP00000263569:G138S	G	-	1	0	C10orf54	73191448	1.000000	0.71417	0.965000	0.40720	0.689000	0.40095	5.617000	0.67716	2.720000	0.93068	0.655000	0.94253	GGC		0.642	C10orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048548.1	NM_022153		3	21	0	0	0	1	0	3	21				
POU2F2	5452	broad.mit.edu	37	19	42597985	42597985	+	Silent	SNP	T	T	C			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr19:42597985T>C	ENST00000526816.2	-	12	1209	c.1194A>G	c.(1192-1194)acA>acG	p.T398T	POU2F2_ENST00000533720.1_Silent_p.T382T|POU2F2_ENST00000560558.1_Silent_p.T343T|POU2F2_ENST00000529952.1_Silent_p.T398T|POU2F2_ENST00000342301.4_Silent_p.T398T|POU2F2_ENST00000529067.1_Silent_p.T382T|POU2F2_ENST00000389341.5_Silent_p.T382T|POU2F2_ENST00000560398.1_Silent_p.T404T			P09086	PO2F2_HUMAN	POU class 2 homeobox 2	398	Leucine-zipper.				cell maturation (GO:0048469)|humoral immune response (GO:0006959)|immunoglobulin secretion involved in immune response (GO:0002380)|mature B cell differentiation (GO:0002335)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)			Dolutegravir(DB08930)	CCTGACCTGTTGTGCTCAGAC	0.612																																						ENST00000389341.5																			0				kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1144-1146)acA>acG		POU class 2 homeobox 2							156.0	142.0	147.0					19																	42597985		2203	4300	6503	SO:0001819	synonymous_variant	5452				humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:42597985T>C		CCDS33035.1, CCDS56094.1, CCDS56095.1, CCDS58665.1	19q13.2	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9213	protein-coding gene	gene with protein product		164176	"""POU domain class 2, transcription factor 2"""	OTF2			Standard	NM_001207026		Approved	OCT2	uc002osp.3	P09086		ENST00000526816.2:c.1194A>G	19.37:g.42597985T>C						POU2F2_ENST00000560558.1_Silent_p.T343T|POU2F2_ENST00000560398.1_Silent_p.T404T|POU2F2_ENST00000533720.1_Silent_p.T382T|POU2F2_ENST00000342301.4_Silent_p.T398T|POU2F2_ENST00000526816.2_Silent_p.T398T|POU2F2_ENST00000529067.1_Silent_p.T382T|POU2F2_ENST00000529952.1_Silent_p.T398T	p.T382T	NM_001207025.2|NM_001247994.1|NM_002698.4	NP_001193954.1|NP_001234923.1|NP_002689.1	P09086	PO2F2_HUMAN			12	1212	-		Prostate(69;0.059)	398					Q16648|Q7M4M8|Q9BRS4	Silent	SNP	ENST00000526816.2	37	c.1146A>G	CCDS56095.1																																																																																				0.612	POU2F2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387329.3			5	141	0	0	0	1	0	5	141				
DEFB118	117285	broad.mit.edu	37	20	29960700	29960700	+	Missense_Mutation	SNP	C	C	G			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr20:29960700C>G	ENST00000253381.2	+	2	132	c.99C>G	c.(97-99)caC>caG	p.H33Q		NM_054112.2	NP_473453.1	Q96PH6	DB118_HUMAN	defensin, beta 118	33					cell-matrix adhesion (GO:0007160)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GATCAGGGCACTGCAGGAAAC	0.418																																						ENST00000253381.2																			0				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14						c.(97-99)caC>caG		defensin, beta 118							104.0	95.0	98.0					20																	29960700		2203	4300	6503	SO:0001583	missense	117285				cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region		g.chr20:29960700C>G	AF347073	CCDS13177.1	20q11.21	2008-02-01	2002-05-09	2002-05-10	ENSG00000131068	ENSG00000131068		"""Defensins, beta"""	16196	protein-coding gene	gene with protein product		607650	"""chromosome 20 open reading frame 63"""	C20orf63		11564719, 15033915	Standard	NM_054112		Approved	dJ1018D12.3, DEFB-18, ESC42	uc002wvr.3	Q96PH6	OTTHUMG00000032161	ENST00000253381.2:c.99C>G	20.37:g.29960700C>G	ENSP00000253381:p.His33Gln						p.H33Q	NM_054112.2	NP_473453.1	Q96PH6	DB118_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		2	132	+	all_hematologic(12;0.158)		33					Q17RC4|Q8N691|Q9NUH0	Missense_Mutation	SNP	ENST00000253381.2	37	c.99C>G	CCDS13177.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.129565	0.37630	.	.	ENSG00000131068	ENST00000253381	T	0.12672	2.66	3.82	0.672	0.17935	.	1.667740	0.03442	N	0.209430	T	0.13415	0.0325	L	0.47190	1.495	0.21553	N	0.999644	B	0.34349	0.45	B	0.34180	0.177	T	0.28004	-1.0057	10	0.72032	D	0.01	-8.9027	2.3709	0.04331	0.1974:0.502:0.1916:0.109	.	33	Q96PH6	DB118_HUMAN	Q	33	ENSP00000253381:H33Q	ENSP00000253381:H33Q	H	+	3	2	DEFB118	29424361	0.165000	0.22948	0.208000	0.23602	0.047000	0.14425	0.138000	0.16016	0.171000	0.19730	-0.136000	0.14681	CAC		0.418	DEFB118-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078501.2	NM_054112		4	43	0	0	0	1	0	4	43				
ZSCAN16	80345	broad.mit.edu	37	6	28097612	28097612	+	Nonsense_Mutation	SNP	C	C	T			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr6:28097612C>T	ENST00000340487.4	+	4	1080	c.931C>T	c.(931-933)Cag>Tag	p.Q311*	ZSCAN16-AS1_ENST00000602810.1_RNA|ZSCAN16-AS1_ENST00000600652.1_RNA	NM_025231.1	NP_079507.1	Q9H4T2	ZSC16_HUMAN	zinc finger and SCAN domain containing 16	311					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)			large_intestine(5)|liver(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						TATTCAGCATCAGAGAATCCA	0.423																																						ENST00000340487.4																			0				large_intestine(5)|liver(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(931-933)Cag>Tag		zinc finger and SCAN domain containing 16							63.0	61.0	61.0					6																	28097612		2203	4300	6503	SO:0001587	stop_gained	80345				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28097612C>T	AK025844	CCDS4644.1	6p21.33	2013-01-08	2007-02-20	2007-02-20	ENSG00000196812	ENSG00000196812		"""-"", ""Zinc fingers, C2H2-type"""	20813	protein-coding gene	gene with protein product			"""zinc finger protein 392"", ""zinc finger protein 435"""	ZNF392, ZNF435			Standard	NM_025231		Approved	FLJ22191, dJ265C24.3	uc003nkm.3	Q9H4T2	OTTHUMG00000014509	ENST00000340487.4:c.931C>T	6.37:g.28097612C>T	ENSP00000366527:p.Gln311*					RP1-265C24.9_ENST00000600652.1_RNA|RP1-265C24.9_ENST00000602810.1_RNA	p.Q311*	NM_025231.1	NP_079507.1	Q9H4T2	ZSC16_HUMAN			4	1080	+			311					Q9H6K2	Nonsense_Mutation	SNP	ENST00000340487.4	37	c.931C>T	CCDS4644.1	.	.	.	.	.	.	.	.	.	.	C	34	5.361654	0.95877	.	.	ENSG00000196812	ENST00000340487	.	.	.	4.93	4.93	0.64822	.	0.000000	0.33144	N	0.005239	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	16.9216	0.86166	0.0:1.0:0.0:0.0	.	.	.	.	X	311	.	ENSP00000366527:Q311X	Q	+	1	0	ZSCAN16	28205591	0.003000	0.15002	0.934000	0.37439	0.982000	0.71751	1.661000	0.37408	2.291000	0.77112	0.655000	0.94253	CAG		0.423	ZSCAN16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040177.1	NM_025231		5	48	0	0	0	1	0	5	48				
CDK5RAP2	55755	broad.mit.edu	37	9	123215999	123215999	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr9:123215999G>A	ENST00000349780.4	-	21	2707	c.2528C>T	c.(2527-2529)tCc>tTc	p.S843F	CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.S843F|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.S843F|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.S811F	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	843					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						ATGTGGCTTGGAAAATGAGTT	0.458																																						ENST00000349780.4																			0				breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						c.(2527-2529)tCc>tTc		CDK5 regulatory subunit associated protein 2							171.0	154.0	160.0					9																	123215999		2203	4300	6503	SO:0001583	missense	55755				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	g.chr9:123215999G>A	BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.2528C>T	9.37:g.123215999G>A	ENSP00000343818:p.Ser843Phe					CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.S843F|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.S843F|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.S811F	p.S843F	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN			21	2707	-			843					Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	ENST00000349780.4	37	c.2528C>T	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.958619	0.53400	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000416449	T;T;T;T;T	0.19394	3.82;3.76;3.87;3.77;2.15	5.78	2.52	0.30459	.	0.681258	0.13884	N	0.356107	T	0.22322	0.0538	L	0.29908	0.895	0.09310	N	1	B;D;B;B	0.53151	0.051;0.958;0.006;0.02	B;P;B;B	0.56700	0.015;0.804;0.007;0.01	T	0.07673	-1.0760	10	0.48119	T	0.1	.	3.2007	0.06649	0.2812:0.2255:0.4933:0.0	.	612;843;843;237	Q6MZT4;Q96SN8-4;Q96SN8;B1AMJ5	.;.;CK5P2_HUMAN;.	F	811;843;843;843;237	ENSP00000354065:S811F;ENSP00000352258:S843F;ENSP00000343818:S843F;ENSP00000353317:S843F;ENSP00000400395:S237F	ENSP00000343818:S843F	S	-	2	0	CDK5RAP2	122255820	0.686000	0.27661	0.002000	0.10522	0.039000	0.13416	1.348000	0.33987	0.761000	0.33130	0.650000	0.86243	TCC		0.458	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249		5	127	0	0	0	1	0	5	127				
GRM3	2913	broad.mit.edu	37	7	86493648	86493648	+	Missense_Mutation	SNP	G	G	A	rs369532307		TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr7:86493648G>A	ENST00000361669.2	+	6	3716	c.2617G>A	c.(2617-2619)Gac>Aac	p.D873N	GRM3_ENST00000394720.2_Missense_Mutation_p.R515Q|GRM3_ENST00000546348.1_Missense_Mutation_p.D465N|GRM3_ENST00000536043.1_Missense_Mutation_p.D745N|GRM3_ENST00000439827.1_Missense_Mutation_p.R517Q	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	873					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					GGAAGTCCTCGACTCCACCAC	0.468																																					GBM(52;969 1098 3139 52280)	ENST00000361669.2																			0				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(2617-2619)Gac>Aac		glutamate receptor, metabotropic 3	Acamprosate(DB00659)|Nicotine(DB00184)	G	ASN/ASP	0,4406		0,0,2203	281.0	229.0	246.0		2617	6.0	1.0	7		246	1,8599	1.2+/-3.3	0,1,4299	no	missense	GRM3	NM_000840.2	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	873/880	86493648	1,13005	2203	4300	6503	SO:0001583	missense	0				synaptic transmission	integral to plasma membrane		g.chr7:86493648G>A		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.2617G>A	7.37:g.86493648G>A	ENSP00000355316:p.Asp873Asn					GRM3_ENST00000546348.1_Missense_Mutation_p.D465N|GRM3_ENST00000536043.1_Missense_Mutation_p.D745N|GRM3_ENST00000439827.1_Missense_Mutation_p.R517Q|GRM3_ENST00000394720.2_Missense_Mutation_p.R515Q	p.D873N	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN			6	3716	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		873					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.2617G>A	CCDS5600.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.291993|5.291993	0.95546|0.95546	0.0|0.0	1.16E-4|1.16E-4	ENSG00000198822|ENSG00000198822	ENST00000361669;ENST00000546348;ENST00000536043|ENST00000439827;ENST00000394720	D;D;D|D;D	0.88509|0.88741	-2.39;-2.34;-2.17|-2.42;-2.42	5.99|5.99	5.99|5.99	0.97316|0.97316	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85478|0.85478	0.5706|0.5706	L|L	0.32530|0.32530	0.975|0.975	0.28844|0.28844	N|N	0.896453|0.896453	D;D;D|B	0.89917|0.31318	0.996;1.0;0.998|0.319	P;D;P|B	0.91635|0.27887	0.844;0.999;0.856|0.084	T|T	0.81042|0.81042	-0.1112|-0.1112	10|9	0.72032|0.87932	D|D	0.01|0	.|.	19.4659|19.4659	0.94939|0.94939	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	465;745;873|517	B7Z204;F5GYZ2;Q14832|G5E9K2	.;.;GRM3_HUMAN|.	N|Q	873;465;745|517;515	ENSP00000355316:D873N;ENSP00000444064:D465N;ENSP00000441407:D745N|ENSP00000398767:R517Q;ENSP00000378209:R515Q	ENSP00000355316:D873N|ENSP00000378209:R515Q	D|R	+|+	1|2	0|0	GRM3|GRM3	86331584|86331584	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	8.502000|8.502000	0.90505|0.90505	2.840000|2.840000	0.97914|0.97914	0.655000|0.655000	0.94253|0.94253	GAC|CGA		0.468	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			9	133	0	0	0	1	0	9	133				
PTPN5	84867	broad.mit.edu	37	11	18762159	18762159	+	Silent	SNP	C	C	T			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr11:18762159C>T	ENST00000358540.2	-	8	1336	c.906G>A	c.(904-906)gcG>gcA	p.A302A	PTPN5_ENST00000477854.1_Silent_p.A106A|PTPN5_ENST00000496201.2_5'Flank|PTPN5_ENST00000396171.4_Silent_p.A302A|RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000396167.2_Silent_p.A270A|PTPN5_ENST00000396170.1_Silent_p.A270A|PTPN5_ENST00000396168.1_Silent_p.A278A	NM_006906.1	NP_008837.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	302	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						CAAAGAATTCCGCCTGCAGCA	0.607																																						ENST00000396170.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						c.(808-810)gcG>gcA		protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)							64.0	68.0	67.0					11																	18762159		2199	4293	6492	SO:0001819	synonymous_variant	84867					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr11:18762159C>T	BC064807	CCDS7845.1, CCDS41626.1, CCDS60746.1	11p15.1	2011-06-09			ENSG00000110786	ENSG00000110786		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9657	protein-coding gene	gene with protein product		176879				1714595	Standard	NM_001278236		Approved	STEP, PTPSTEP	uc001mpc.4	P54829	OTTHUMG00000134304	ENST00000358540.2:c.906G>A	11.37:g.18762159C>T						PTPN5_ENST00000396171.4_Silent_p.A302A|PTPN5_ENST00000396168.1_Silent_p.A278A|PTPN5_ENST00000396167.2_Silent_p.A270A|PTPN5_ENST00000477854.1_Silent_p.A106A|PTPN5_ENST00000358540.2_Silent_p.A302A	p.A270A	NM_001278236.1	NP_001265165.1	P54829	PTN5_HUMAN			8	2074	-			302					B3KXG7|B7Z386|B7ZAF5|D3DQY7|Q6P1Z2|Q8N2A1|Q8NDP8	Silent	SNP	ENST00000358540.2	37	c.810G>A	CCDS7845.1																																																																																				0.607	PTPN5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259196.2	NM_001039970		15	23	0	0	0	1	0	15	23				
BCHE	590	broad.mit.edu	37	3	165491285	165491285	+	Missense_Mutation	SNP	T	T	A			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr3:165491285T>A	ENST00000264381.3	-	4	1860	c.1694A>T	c.(1693-1695)gAt>gTt	p.D565V	BCHE_ENST00000540653.1_Missense_Mutation_p.D27V	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	565					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	TTCTGCTTCATCAATATTTCC	0.303																																						ENST00000264381.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55						c.(1693-1695)gAt>gTt		butyrylcholinesterase	Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)						82.0	77.0	79.0					3																	165491285		2202	4299	6501	SO:0001583	missense	590				choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	g.chr3:165491285T>A	M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.1694A>T	3.37:g.165491285T>A	ENSP00000264381:p.Asp565Val					BCHE_ENST00000540653.1_Missense_Mutation_p.D27V	p.D565V	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN			4	1860	-			565					A8K7P8	Missense_Mutation	SNP	ENST00000264381.3	37	c.1694A>T	CCDS3198.1	.	.	.	.	.	.	.	.	.	.	T	19.37	3.814935	0.70912	.	.	ENSG00000114200	ENST00000264381;ENST00000479451;ENST00000540653	T;T;T	0.80304	-0.25;-1.34;-1.36	5.03	5.03	0.67393	Acetylcholinesterase, tetramerisation (2);	0.266848	0.31221	N	0.008023	D	0.88171	0.6365	M	0.71581	2.175	0.80722	D	1	D	0.67145	0.996	D	0.70016	0.967	D	0.89478	0.3748	10	0.72032	D	0.01	.	14.2318	0.65898	0.0:0.0:0.0:1.0	.	565	P06276	CHLE_HUMAN	V	565;95;27	ENSP00000264381:D565V;ENSP00000418325:D95V;ENSP00000443583:D27V	ENSP00000264381:D565V	D	-	2	0	BCHE	166973979	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.719000	0.74718	2.008000	0.58898	0.528000	0.53228	GAT		0.303	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1			20	52	0	0	0	1	0	20	52				
THSD1	55901	broad.mit.edu	37	13	52951824	52951824	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr13:52951824G>A	ENST00000258613.4	-	5	2459	c.2281C>T	c.(2281-2283)Cgg>Tgg	p.R761W	THSD1_ENST00000349258.4_Missense_Mutation_p.R708W|THSD1_ENST00000544466.1_Missense_Mutation_p.R382W	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	761					hematopoietic progenitor cell differentiation (GO:0002244)	cell periphery (GO:0071944)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		GACGGTCCCCGACGAGCTCTG	0.552																																						ENST00000349258.4																			0				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(2122-2124)Cgg>Tgg		thrombospondin, type I, domain containing 1							120.0	126.0	124.0					13																	52951824		2203	4300	6503	SO:0001583	missense	55901					extracellular region|integral to membrane|intracellular membrane-bounded organelle		g.chr13:52951824G>A	AK096289	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114			17754	protein-coding gene	gene with protein product			"""thrombospondin, type I, domain 1"""				Standard	NM_018676		Approved	TMTSP	uc001vgo.3	Q9NS62	OTTHUMG00000016963	ENST00000258613.4:c.2281C>T	13.37:g.52951824G>A	ENSP00000258613:p.Arg761Trp					THSD1_ENST00000544466.1_Missense_Mutation_p.R382W|THSD1_ENST00000258613.4_Missense_Mutation_p.R761W	p.R708W	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN		GBM - Glioblastoma multiforme(99;2.8e-08)	4	2666	-		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	761					A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Missense_Mutation	SNP	ENST00000258613.4	37	c.2122C>T	CCDS9432.1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.462806	0.26248	.	.	ENSG00000136114	ENST00000349258;ENST00000544466;ENST00000258613	T;T;T	0.42900	1.65;0.96;1.82	5.38	2.89	0.33648	.	0.049277	0.85682	D	0.000000	T	0.38772	0.1053	M	0.71581	2.175	0.45284	D	0.998283	P;D	0.53745	0.75;0.962	B;B	0.36808	0.073;0.233	T	0.45483	-0.9258	10	0.72032	D	0.01	-18.6555	12.8782	0.58001	0.0:0.0:0.3894:0.6106	.	708;761	Q9NS62-2;Q9NS62	.;THSD1_HUMAN	W	708;382;761	ENSP00000340650:R708W;ENSP00000438512:R382W;ENSP00000258613:R761W	ENSP00000258613:R761W	R	-	1	2	THSD1	51849825	0.378000	0.25114	0.901000	0.35422	0.541000	0.35023	0.809000	0.27168	0.422000	0.26005	-0.474000	0.04947	CGG		0.552	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045058.3			13	106	0	0	0	1	0	13	106				
IRS2	8660	broad.mit.edu	37	13	110436686	110436686	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr13:110436686C>T	ENST00000375856.3	-	1	2229	c.1715G>A	c.(1714-1716)cGc>cAc	p.R572H		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	572					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid homeostasis (GO:0055088)|mammary gland development (GO:0030879)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of kinase activity (GO:0033673)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mesenchymal cell proliferation (GO:0002053)|regulation of lipid metabolic process (GO:0019216)|response to glucose (GO:0009749)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			GGTCCTCTTGCGCAGCCCTCG	0.692																																					Melanoma(100;613 2409 40847)	ENST00000375856.3																			0				kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19						c.(1714-1716)cGc>cAc		insulin receptor substrate 2							12.0	15.0	14.0					13																	110436686		2170	4266	6436	SO:0001583	missense	8660				fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity	g.chr13:110436686C>T	AB000732	CCDS9510.1	13q34	2013-01-10			ENSG00000185950	ENSG00000185950		"""Pleckstrin homology (PH) domain containing"""	6126	protein-coding gene	gene with protein product		600797				9312143	Standard	NM_003749		Approved		uc001vqv.3	Q9Y4H2	OTTHUMG00000017338	ENST00000375856.3:c.1715G>A	13.37:g.110436686C>T	ENSP00000365016:p.Arg572His						p.R572H	NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)		1	2229	-	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	572					Q96RR2|Q9BZG0|Q9Y6I5	Missense_Mutation	SNP	ENST00000375856.3	37	c.1715G>A	CCDS9510.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.250842	0.59212	.	.	ENSG00000185950	ENST00000375856	T	0.19669	2.13	3.62	3.62	0.41486	.	0.000000	0.85682	U	0.000000	T	0.45637	0.1352	M	0.73217	2.22	0.47905	D	0.99954	D	0.89917	1.0	D	0.85130	0.997	T	0.53251	-0.8465	10	0.87932	D	0	-13.8666	15.5047	0.75728	0.0:1.0:0.0:0.0	.	572	Q9Y4H2	IRS2_HUMAN	H	572	ENSP00000365016:R572H	ENSP00000365016:R572H	R	-	2	0	IRS2	109234687	0.487000	0.25988	0.990000	0.47175	0.599000	0.36880	4.674000	0.61612	1.857000	0.53885	0.549000	0.68633	CGC		0.692	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045755.1	NM_003749		6	18	0	0	0	1	0	6	18				
SH3TC2	79628	broad.mit.edu	37	5	148407722	148407722	+	Frame_Shift_Del	DEL	A	A	-			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr5:148407722delA	ENST00000515425.1	-	11	1674	c.1573delT	c.(1573-1575)tggfs	p.W525fs	SH3TC2_ENST00000538184.1_Frame_Shift_Del_p.W72fs|SH3TC2_ENST00000513340.1_5'Flank|SH3TC2_ENST00000394358.2_Frame_Shift_Del_p.W410fs|SH3TC2_ENST00000512049.1_Frame_Shift_Del_p.W518fs	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	525					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCATGGGCCCAGGTCATGTGG	0.547																																						ENST00000538184.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39						c.(214-216)ggfs		SH3 domain and tetratricopeptide repeats 2							84.0	92.0	90.0					5																	148407722		2203	4300	6503	SO:0001589	frameshift_variant	79628						binding	g.chr5:148407722delA	AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"""Tetratricopeptide (TTC) repeat domain containing"""	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.1573delT	5.37:g.148407722delA	ENSP00000423660:p.Trp525fs					SH3TC2_ENST00000512049.1_Frame_Shift_Del_p.W518fs|SH3TC2_ENST00000515425.1_Frame_Shift_Del_p.W525fs|SH3TC2_ENST00000394358.2_Frame_Shift_Del_p.W410fs	p.W72fs			Q8TF17	S3TC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		7	1102	-			525					B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Frame_Shift_Del	DEL	ENST00000515425.1	37	c.214delT	CCDS4293.1																																																																																				0.547	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577		55	86						55	86	---	---	---	---
XKR5	389610	broad.mit.edu	37	8	6679301	6679302	+	RNA	DEL	CA	CA	-	rs370394378		TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr8:6679301_6679302delCA	ENST00000518724.1	-	0	958							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		TGCATTGGTGcacacacacaca	0.401																																						ENST00000518724.1																			0				endometrium(1)|large_intestine(1)|lung(1)	3								XK, Kell blood group complex subunit-related family, member 5																																						389610					integral to membrane		g.chr8:6679301_6679302delCA	AY358489		8p23.1	2006-01-12	2006-01-12		ENSG00000186530	ENSG00000275591			20782	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 5"""				Standard	NM_207411		Approved		uc022aqv.1	Q6UX68	OTTHUMG00000153652		8.37:g.6679311_6679312delCA										Q6UX68	XKR5_HUMAN	STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)	0	958	-								Q5GH74	RNA	DEL	ENST00000518724.1	37																																																																																						0.401	XKR5-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000331969.2	NM_207411		4	8						4	8	---	---	---	---
CTB-91J4.1	0	broad.mit.edu	37	17	34445618	34445619	+	RNA	INS	-	-	C	rs372745228|rs140924077	byFrequency	TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr17:34445618_34445619insC	ENST00000592460.1	+	0	41																											ACTGCCCCCCACCCCCCCACCC	0.599													?|CCCCCCC|CCCCCCCC|unsure	4192	0.837061	0.9244	0.8934	5008	,	,		17070	0.6736		0.832	False		,,,				2504	0.8528					ENST00000592460.1																			0																																																			0							g.chr17:34445618_34445619insC																													17.37:g.34445625_34445625dupC														0	41	+									RNA	INS	ENST00000592460.1	37																																																																																						0.599	CTB-91J4.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000450617.1			6	0						6	0	---	---	---	---
PISD	23761	broad.mit.edu	37	22	32046701	32046701	+	Frame_Shift_Del	DEL	A	A	-			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr22:32046701delA	ENST00000439502.2	-	2	352	c.129delT	c.(127-129)tttfs	p.F43fs	PISD_ENST00000336566.4_Frame_Shift_Del_p.F43fs			Q9UG56	PISD_HUMAN	phosphatidylserine decarboxylase	43					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	phosphatidylserine decarboxylase activity (GO:0004609)			central_nervous_system(3)|endometrium(2)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12					Phosphatidylserine(DB00144)	GAAAGGCTCTAAAAGGCAGCT	0.453																																						ENST00000439502.2																			0				central_nervous_system(3)|endometrium(2)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12						c.(127-129)ttfs		phosphatidylserine decarboxylase	Phosphatidylserine(DB00144)						8.0	7.0	7.0					22																	32046701		867	1967	2834	SO:0001589	frameshift_variant	23761				phospholipid biosynthetic process	mitochondrion	phosphatidylserine decarboxylase activity	g.chr22:32046701delA		CCDS13899.1	22q12.2	2011-01-25			ENSG00000241878	ENSG00000241878	4.1.1.65		8999	protein-coding gene	gene with protein product		612770				10591208	Standard	NM_014338		Approved	dJ858B16.2, PSDC	uc003alk.2	Q9UG56	OTTHUMG00000030252	ENST00000439502.2:c.129delT	22.37:g.32046701delA	ENSP00000391739:p.Phe43fs					PISD_ENST00000336566.4_Frame_Shift_Del_p.F43fs	p.F43fs			Q9UG56	PISD_HUMAN			2	352	-			43					B1AKM7|O43207|O95535|Q6IC28|Q96GQ2|Q9UGA9	Frame_Shift_Del	DEL	ENST00000439502.2	37	c.129delT																																																																																					0.453	PISD-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000075106.4			2	4						2	4	---	---	---	---
