#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
TIMM22	29928	broad.mit.edu	37	17	900397	900397	+	Silent	SNP	C	C	A			TCGA-DJ-A3V5-01A-11D-A22Z-08	TCGA-DJ-A3V5-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3931a87c-3bd4-4502-ae05-671b7c4f2d0c	3ce6003f-639a-446e-bad7-ae6cd1e97418	g.chr17:900397C>A	ENST00000327158.4	+	1	41	c.15C>A	c.(13-15)gcC>gcA	p.A5A		NM_013337.2	NP_037469.2	Q9Y584	TIM22_HUMAN	translocase of inner mitochondrial membrane 22 homolog (yeast)	5					cellular protein metabolic process (GO:0044267)|protein import into mitochondrial inner membrane (GO:0045039)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	protein channel activity (GO:0015266)			breast(2)|endometrium(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CGGCGGCCGCCCCCAATGCCG	0.672																																						ENST00000327158.3																			0				breast(2)|endometrium(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	7						c.(13-15)gcC>gcA		translocase of inner mitochondrial membrane 22 homolog (yeast)							9.0	13.0	11.0					17																	900397		2072	4152	6224	SO:0001819	synonymous_variant	29928				transmembrane transport	integral to membrane|mitochondrial inner membrane	protein transporter activity	g.chr17:900397C>A	AF155330	CCDS32521.1	17p13	2008-02-05	2003-07-22			ENSG00000177370			17317	protein-coding gene	gene with protein product		607251	"""testis-expressed sequence 4"""	TEX4			Standard	NM_013337		Approved		uc002fsc.3	Q9Y584		ENST00000327158.4:c.15C>A	17.37:g.900397C>A							p.A5A	NM_013337.2	NP_037469.2	Q9Y584	TIM22_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	1	41	+			5					Q9NWI8	Silent	SNP	ENST00000327158.4	37	c.15C>A	CCDS32521.1																																																																																				0.672	TIMM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450107.2	NM_013337		9	10	1	0	0.000274275	1	0.000274275	9	10				
LRRC4C	57689	broad.mit.edu	37	11	40136666	40136666	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A3V5-01A-11D-A22Z-08	TCGA-DJ-A3V5-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3931a87c-3bd4-4502-ae05-671b7c4f2d0c	3ce6003f-639a-446e-bad7-ae6cd1e97418	g.chr11:40136666C>A	ENST00000278198.2	-	2	3140	c.1177G>T	c.(1177-1179)Gtc>Ttc	p.V393F	LRRC4C_ENST00000527150.1_Missense_Mutation_p.V393F|LRRC4C_ENST00000528697.1_Missense_Mutation_p.V393F|LRRC4C_ENST00000530763.1_Missense_Mutation_p.V393F			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	393	Ig-like C2-type.				regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TGTGTCATGACTGTTCCATTT	0.478																																						ENST00000278198.2																			0				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86						c.(1177-1179)Gtc>Ttc		leucine rich repeat containing 4C							172.0	152.0	159.0					11																	40136666		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40136666C>A	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.1177G>T	11.37:g.40136666C>A	ENSP00000278198:p.Val393Phe					LRRC4C_ENST00000528697.1_Missense_Mutation_p.V393F|LRRC4C_ENST00000530763.1_Missense_Mutation_p.V393F|LRRC4C_ENST00000527150.1_Missense_Mutation_p.V393F	p.V393F			Q9HCJ2	LRC4C_HUMAN			2	3140	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	393			Ig-like C2-type.		A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.1177G>T	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.463963	0.26335	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37	5.87	4.96	0.65561	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.121292	0.56097	D	0.000031	T	0.62744	0.2453	L	0.53780	1.695	0.45005	D	0.998023	B	0.32245	0.361	B	0.38655	0.278	T	0.59397	-0.7462	10	0.32370	T	0.25	.	9.8286	0.40928	0.0:0.8501:0.0:0.1499	.	393	Q9HCJ2	LRC4C_HUMAN	F	393	ENSP00000278198:V393F;ENSP00000436976:V393F;ENSP00000437132:V393F;ENSP00000434761:V393F	ENSP00000278198:V393F	V	-	1	0	LRRC4C	40093242	0.987000	0.35691	1.000000	0.80357	0.938000	0.57974	2.432000	0.44784	2.798000	0.96311	0.650000	0.86243	GTC		0.478	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		40	74	1	0	8.01111e-26	1	8.33155e-26	40	74				
KRTAP4-11	653240	broad.mit.edu	37	17	39274319	39274319	+	Missense_Mutation	SNP	G	G	C	rs199712484		TCGA-DJ-A3V5-01A-11D-A22Z-08	TCGA-DJ-A3V5-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3931a87c-3bd4-4502-ae05-671b7c4f2d0c	3ce6003f-639a-446e-bad7-ae6cd1e97418	g.chr17:39274319G>C	ENST00000391413.2	-	1	287	c.249C>G	c.(247-249)agC>agG	p.S83R		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	83	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.S83R(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCTTGCAGCAGCTGGACACAC	0.662																																						ENST00000391413.2																			1	Substitution - Missense(1)	p.S83R(1)	endometrium(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(247-249)agC>agG		keratin associated protein 4-11																																				SO:0001583	missense	653240					keratin filament		g.chr17:39274319G>C	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.249C>G	17.37:g.39274319G>C	ENSP00000375232:p.Ser83Arg						p.S83R	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	287	-		Breast(137;0.000496)	83			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.249C>G	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	11.88	1.769671	0.31320	.	.	ENSG00000212721	ENST00000391413	T	0.00686	5.85	4.12	0.987	0.19790	.	8.728350	0.01373	U	0.012645	T	0.01835	0.0058	M	0.85710	2.77	0.20489	N	0.999895	B	0.21381	0.055	B	0.12156	0.007	T	0.50676	-0.8800	10	0.66056	D	0.02	.	3.7776	0.08667	0.3083:0.1839:0.5078:0.0	.	83	Q9BYQ6	KR411_HUMAN	R	83	ENSP00000375232:S83R	ENSP00000375232:S83R	S	-	3	2	KRTAP4-11	36527845	0.052000	0.20516	0.390000	0.26220	0.120000	0.20174	0.102000	0.15272	0.075000	0.16796	0.511000	0.50034	AGC		0.662	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			3	42	0	0	0	1	0	3	42				
FANCI	55215	broad.mit.edu	37	15	89856163	89856163	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3V5-01A-11D-A22Z-08	TCGA-DJ-A3V5-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3931a87c-3bd4-4502-ae05-671b7c4f2d0c	3ce6003f-639a-446e-bad7-ae6cd1e97418	g.chr15:89856163G>A	ENST00000310775.7	+	35	3766	c.3680G>A	c.(3679-3681)gGa>gAa	p.G1227E	FANCI_ENST00000566615.1_3'UTR|FANCI_ENST00000300027.8_Missense_Mutation_p.G1167E	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	1227					cell cycle (GO:0007049)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					AACTATACGGGAGAGAAAAAG	0.418								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000310775.7																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(3679-3681)gGa>gAa	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group I							76.0	75.0	75.0					15																	89856163		2200	4299	6499	SO:0001583	missense	55215	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle|DNA repair	nucleoplasm	protein binding	g.chr15:89856163G>A	BC004277	CCDS10349.2, CCDS45346.1	15q26.1	2014-09-17	2007-05-03	2007-05-03	ENSG00000140525	ENSG00000140525		"""Fanconi anemia, complementation groups"""	25568	protein-coding gene	gene with protein product		611360	"""KIAA1794"""	KIAA1794		14630800, 17460694, 17412408	Standard	NM_001113378		Approved	FLJ10719	uc010bnp.1	Q9NVI1	OTTHUMG00000132993	ENST00000310775.7:c.3680G>A	15.37:g.89856163G>A	ENSP00000310842:p.Gly1227Glu					FANCI_ENST00000566615.1_3'UTR|FANCI_ENST00000300027.8_Missense_Mutation_p.G1167E	p.G1227E	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN			35	3766	+	Lung NSC(78;0.0472)|all_lung(78;0.089)		1227					A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Missense_Mutation	SNP	ENST00000310775.7	37	c.3680G>A	CCDS45346.1	.	.	.	.	.	.	.	.	.	.	G	10.71	1.426471	0.25726	.	.	ENSG00000140525	ENST00000300027;ENST00000310775	D;D	0.82081	-1.57;-1.57	4.77	3.85	0.44370	.	0.524497	0.20928	N	0.083157	T	0.65048	0.2654	N	0.17082	0.46	0.80722	D	1	B;B;B	0.24721	0.012;0.11;0.007	B;B;B	0.17433	0.009;0.018;0.006	T	0.56032	-0.8046	10	0.08837	T	0.75	-4.6227	8.4473	0.32849	0.1039:0.0:0.8961:0.0	.	1227;1166;1167	Q9NVI1;Q9NVI1-2;Q9NVI1-1	FANCI_HUMAN;.;.	E	1167;1227	ENSP00000300027:G1167E;ENSP00000310842:G1227E	ENSP00000300027:G1167E	G	+	2	0	FANCI	87657167	1.000000	0.71417	0.998000	0.56505	0.376000	0.30014	1.914000	0.39966	1.230000	0.43646	0.650000	0.86243	GGA		0.418	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421140.1	NM_018193		3	27	0	0	0	1	0	3	27				
CYP27B1	1594	broad.mit.edu	37	12	58159094	58159094	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A3V5-01A-11D-A22Z-08	TCGA-DJ-A3V5-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3931a87c-3bd4-4502-ae05-671b7c4f2d0c	3ce6003f-639a-446e-bad7-ae6cd1e97418	g.chr12:58159094T>C	ENST00000228606.4	-	3	784	c.575A>G	c.(574-576)aAg>aGg	p.K192R	CYP27B1_ENST00000546496.1_5'Flank	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	192					bone mineralization (GO:0030282)|calcitriol biosynthetic process from calciol (GO:0036378)|calcium ion homeostasis (GO:0055074)|calcium ion transport (GO:0006816)|decidualization (GO:0046697)|G1 to G0 transition (GO:0070314)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of bone mineralization (GO:0030500)|response to estrogen (GO:0043627)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	calcidiol 1-monooxygenase activity (GO:0004498)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Alfacalcidol(DB01436)|Calcidiol(DB00146)|Corticotropin(DB01285)|Ergocalciferol(DB00153)	CAGTCCGAACTTGTAAAATTC	0.692											OREG0021953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000228606.4																			0				central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15						c.(574-576)aAg>aGg		cytochrome P450, family 27, subfamily B, polypeptide 1	Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)						13.0	16.0	15.0					12																	58159094		2170	4258	6428	SO:0001583	missense	1594				bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding	g.chr12:58159094T>C	AB006987	CCDS8954.1	12q14.1	2013-11-13	2003-01-14		ENSG00000111012	ENSG00000111012		"""Cytochrome P450s"""	2606	protein-coding gene	gene with protein product	"""VDDR I"", ""1alpha(OH)ase"", ""25-Hydroxyvitamin D3 1alpha-hydroxylase"""	609506	"""cytochrome P450, subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase), polypeptide 1"""	VDD1, PDDR		9295274, 9344864	Standard	NM_000785		Approved	CYP1, P450c1	uc001spz.1	O15528	OTTHUMG00000170457	ENST00000228606.4:c.575A>G	12.37:g.58159094T>C	ENSP00000228606:p.Lys192Arg		OREG0021953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1028	RP11-571M6.13_ENST00000546609.1_RNA	p.K192R	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		3	784	-	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		192					B2RC61|Q548T3	Missense_Mutation	SNP	ENST00000228606.4	37	c.575A>G	CCDS8954.1	.	.	.	.	.	.	.	.	.	.	T	13.22	2.172847	0.38413	.	.	ENSG00000111012	ENST00000228606	T	0.68624	-0.34	5.06	5.06	0.68205	.	0.109629	0.64402	D	0.000017	T	0.48554	0.1506	N	0.16368	0.405	0.34219	D	0.675158	B	0.31752	0.338	B	0.39904	0.313	T	0.54091	-0.8345	10	0.02654	T	1	.	9.333	0.38034	0.1602:0.0:0.0:0.8398	.	192	O15528	CP27B_HUMAN	R	192	ENSP00000228606:K192R	ENSP00000228606:K192R	K	-	2	0	CYP27B1	56445361	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	2.331000	0.43894	2.121000	0.65114	0.459000	0.35465	AAG		0.692	CYP27B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409248.1	NM_000785		6	14	0	0	0	1	0	6	14				
AFM	173	broad.mit.edu	37	4	74364929	74364929	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A3V5-01A-11D-A22Z-08	TCGA-DJ-A3V5-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3931a87c-3bd4-4502-ae05-671b7c4f2d0c	3ce6003f-639a-446e-bad7-ae6cd1e97418	g.chr4:74364929C>T	ENST00000226355.3	+	11	1481	c.1388C>T	c.(1387-1389)aCg>aTg	p.T463M		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	463	Albumin 3. {ECO:0000255|PROSITE- ProRule:PRU00769}.				vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	vitamin E binding (GO:0008431)	p.T463M(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ACTTGCTGTACGCTAAGTGAA	0.413																																						ENST00000226355.3																			1	Substitution - Missense(1)	p.T463M(1)	large_intestine(1)	breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(1387-1389)aCg>aTg		afamin							159.0	139.0	146.0					4																	74364929		2203	4300	6503	SO:0001583	missense	173				vitamin transport		vitamin E binding	g.chr4:74364929C>T	L32140	CCDS3557.1	4q13.3	2008-06-11			ENSG00000079557	ENSG00000079557			316	protein-coding gene	gene with protein product		104145				7517938	Standard	NM_001133		Approved	ALB2, ALBA	uc003hhb.3	P43652	OTTHUMG00000130004	ENST00000226355.3:c.1388C>T	4.37:g.74364929C>T	ENSP00000226355:p.Thr463Met						p.T463M	NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		11	1481	+	Breast(15;0.00102)		463			Albumin 3.		A8K3E1|Q32MR3|Q4W5C5	Missense_Mutation	SNP	ENST00000226355.3	37	c.1388C>T	CCDS3557.1	.	.	.	.	.	.	.	.	.	.	C	9.800	1.180275	0.21787	.	.	ENSG00000079557	ENST00000226355	T	0.73258	-0.73	5.55	3.8	0.43715	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.576081	0.17417	N	0.174987	T	0.67183	0.2866	L	0.55103	1.725	0.09310	N	1	D	0.54047	0.964	P	0.47786	0.557	T	0.59637	-0.7417	10	0.48119	T	0.1	.	6.3034	0.21125	0.1841:0.725:0.0:0.0909	.	463	P43652	AFAM_HUMAN	M	463	ENSP00000226355:T463M	ENSP00000226355:T463M	T	+	2	0	AFM	74583793	0.000000	0.05858	0.273000	0.24645	0.014000	0.08584	-0.369000	0.07533	1.329000	0.45376	0.655000	0.94253	ACG		0.413	AFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252275.2			9	14	0	0	0	1	0	9	14				
FRAS1	80144	broad.mit.edu	37	4	79301030	79301030	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A3V5-01A-11D-A22Z-08	TCGA-DJ-A3V5-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3931a87c-3bd4-4502-ae05-671b7c4f2d0c	3ce6003f-639a-446e-bad7-ae6cd1e97418	g.chr4:79301030A>G	ENST00000325942.6	+	27	3883	c.3443A>G	c.(3442-3444)aAt>aGt	p.N1148S	FRAS1_ENST00000264895.6_Missense_Mutation_p.N1148S	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1148					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACTCCCACCAATGGTCAGCTA	0.468																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(3442-3444)aAt>aGt		Fraser syndrome 1							91.0	90.0	90.0					4																	79301030		1902	4111	6013	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79301030A>G	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.3443A>G	4.37:g.79301030A>G	ENSP00000326330:p.Asn1148Ser					FRAS1_ENST00000325942.6_Missense_Mutation_p.N1148S	p.N1148S	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			27	3883	+			1147					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000325942.6	37	c.3443A>G	CCDS54772.1	.	.	.	.	.	.	.	.	.	.	A	18.33	3.600992	0.66332	.	.	ENSG00000138759	ENST00000325942;ENST00000264895	D;D	0.88124	-2.34;-2.34	5.53	4.35	0.52113	.	0.000000	0.85682	D	0.000000	D	0.89217	0.6652	M	0.73598	2.24	0.80722	D	1	D;D	0.60160	0.987;0.986	P;P	0.55785	0.751;0.784	D	0.86065	0.1534	10	0.25106	T	0.35	.	8.4471	0.32849	0.7993:0.1313:0.0694:0.0	.	1148;1148	E9PHH6;A2RRR8	.;.	S	1148	ENSP00000326330:N1148S;ENSP00000264895:N1148S	ENSP00000264895:N1148S	N	+	2	0	FRAS1	79520054	1.000000	0.71417	0.994000	0.49952	0.747000	0.42532	4.557000	0.60782	0.936000	0.37367	0.482000	0.46254	AAT		0.468	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			10	16	0	0	0	1	0	10	16				
TIMELESS	8914	broad.mit.edu	37	12	56814908	56814908	+	Missense_Mutation	SNP	G	G	A	rs374201861		TCGA-DJ-A3V5-01A-11D-A22Z-08	TCGA-DJ-A3V5-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3931a87c-3bd4-4502-ae05-671b7c4f2d0c	3ce6003f-639a-446e-bad7-ae6cd1e97418	g.chr12:56814908G>A	ENST00000553532.1	-	24	3029	c.2879C>T	c.(2878-2880)gCg>gTg	p.A960V	TIMELESS_ENST00000229201.4_Missense_Mutation_p.A959V|TIMELESS_ENST00000554616.1_Missense_Mutation_p.A457V					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CAGGGACTCCGCTCCATTTGG	0.512																																						ENST00000229201.4																			0				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						c.(2875-2877)gCg>gTg		timeless circadian clock		G	VAL/ALA	0,4406		0,0,2203	64.0	66.0	65.0		2879	1.3	0.0	12		65	1,8599	1.2+/-3.3	0,1,4299	no	missense	TIMELESS	NM_003920.3	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	960/1209	56814908	1,13005	2203	4300	6503	SO:0001583	missense	8914				cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		g.chr12:56814908G>A	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.2879C>T	12.37:g.56814908G>A	ENSP00000450607:p.Ala960Val					TIMELESS_ENST00000554616.1_Missense_Mutation_p.A457V|TIMELESS_ENST00000553532.1_Missense_Mutation_p.A960V	p.A959V	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN			24	3030	-			960						Missense_Mutation	SNP	ENST00000553532.1	37	c.2876C>T	CCDS8918.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.533002	0.27387	0.0	1.16E-4	ENSG00000111602	ENST00000229201;ENST00000553532;ENST00000554616	T;T;T	0.64991	2.66;2.66;-0.13	5.02	1.27	0.21489	Timeless C-terminal (1);	0.696585	0.14503	N	0.315623	T	0.35828	0.0945	N	0.08118	0	0.09310	N	1	B	0.25441	0.126	B	0.19391	0.025	T	0.17319	-1.0373	10	0.41790	T	0.15	-5.7743	5.8548	0.18714	0.0:0.0902:0.3436:0.5663	.	960	Q9UNS1	TIM_HUMAN	V	959;960;457	ENSP00000229201:A959V;ENSP00000450607:A960V;ENSP00000450848:A457V	ENSP00000229201:A960V	A	-	2	0	TIMELESS	55101175	0.000000	0.05858	0.001000	0.08648	0.041000	0.13682	0.387000	0.20718	0.105000	0.17753	-0.397000	0.06425	GCG		0.512	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920		12	30	0	0	0	1	0	12	30				
OR2B3	442184	broad.mit.edu	37	6	29054783	29054783	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A3V5-01A-11D-A22Z-08	TCGA-DJ-A3V5-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3931a87c-3bd4-4502-ae05-671b7c4f2d0c	3ce6003f-639a-446e-bad7-ae6cd1e97418	g.chr6:29054783C>T	ENST00000377173.2	-	1	307	c.243G>A	c.(241-243)atG>atA	p.M81I		NM_001005226.2	NP_001005226.1	O76000	OR2B3_HUMAN	olfactory receptor, family 2, subfamily B, member 3	81						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						TATTTACCAACATATGAGGGA	0.448																																						ENST00000377173.2																			0				breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						c.(241-243)atG>atA		olfactory receptor, family 2, subfamily B, member 3							133.0	129.0	131.0					6																	29054783		2203	4300	6503	SO:0001583	missense	442184							g.chr6:29054783C>T		CCDS34358.1	6p22.2-p21.31	2012-08-09	2008-10-22	2008-10-22	ENSG00000204703	ENSG00000204703		"""GPCR / Class A : Olfactory receptors"""	8238	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily B, member 3 pseudogene"""	OR2B3P			Standard	NM_001005226		Approved	OR6-4	uc003nlx.3	O76000	OTTHUMG00000031226	ENST00000377173.2:c.243G>A	6.37:g.29054783C>T	ENSP00000366378:p.Met81Ile						p.M81I	NM_001005226.2	NP_001005226.1					1	307	-								B0UYQ1|Q5ST41|Q96R13	Missense_Mutation	SNP	ENST00000377173.2	37	c.243G>A	CCDS34358.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.516687	0.27123	.	.	ENSG00000204703	ENST00000377173	T	0.05513	3.43	3.9	3.9	0.45041	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48767	U	0.000161	T	0.03871	0.0109	M	0.81942	2.565	0.22552	N	0.998995	B	0.06786	0.001	B	0.06405	0.002	T	0.21621	-1.0240	10	0.72032	D	0.01	.	7.2564	0.26179	0.0:0.7252:0.1746:0.1002	.	81	O76000	OR2B3_HUMAN	I	81	ENSP00000366378:M81I	ENSP00000366378:M81I	M	-	3	0	OR2B3	29162762	0.000000	0.05858	0.950000	0.38849	0.860000	0.49131	-0.630000	0.05502	1.696000	0.51158	0.579000	0.79373	ATG		0.448	OR2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076469.2			16	30	0	0	0	1	0	16	30				
CAMK4	814	broad.mit.edu	37	5	110819825	110819825	+	Silent	SNP	A	A	C			TCGA-DJ-A3V5-01A-11D-A22Z-08	TCGA-DJ-A3V5-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3931a87c-3bd4-4502-ae05-671b7c4f2d0c	3ce6003f-639a-446e-bad7-ae6cd1e97418	g.chr5:110819825A>C	ENST00000282356.4	+	11	1481	c.1083A>C	c.(1081-1083)ccA>ccC	p.P361P	CAMK4_ENST00000512890.1_3'UTR|CAMK4_ENST00000512453.1_Silent_p.P361P	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	361					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|long-term memory (GO:0007616)|myeloid dendritic cell differentiation (GO:0043011)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleocytoplasmic transport (GO:0006913)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of osteoclast differentiation (GO:0045670)|regulation of T cell differentiation in thymus (GO:0033081)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		ACCCTTCTCCAATCCAAGATG	0.587																																						ENST00000282356.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30						c.(1081-1083)ccA>ccC		calcium/calmodulin-dependent protein kinase IV							62.0	63.0	63.0					5																	110819825		2202	4300	6502	SO:0001819	synonymous_variant	814				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr5:110819825A>C	D30742	CCDS4103.1	5q22.1	2012-09-20			ENSG00000152495	ENSG00000152495	2.7.11.17		1464	protein-coding gene	gene with protein product	"""brain Ca++-calmodulin-dependent protein kinase type IV"", ""calcium/calmodulin-dependent protein kinase type IV catalytic chain"", ""CAM kinase IV"", ""CAM kinase- GR"""	114080				2536634	Standard	NM_001744		Approved	CaMK-GR	uc003kpf.3	Q16566	OTTHUMG00000128792	ENST00000282356.4:c.1083A>C	5.37:g.110819825A>C						CAMK4_ENST00000512890.1_3'UTR|CAMK4_ENST00000512453.1_Silent_p.P361P	p.P361P	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)	11	1481	+		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)	361					D3DSZ7	Silent	SNP	ENST00000282356.4	37	c.1083A>C	CCDS4103.1																																																																																				0.587	CAMK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250719.2	NM_001744		6	33	0	0	0	1	0	6	33				
ABHD5	51099	broad.mit.edu	37	3	43759228	43759228	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3V5-01A-11D-A22Z-08	TCGA-DJ-A3V5-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3931a87c-3bd4-4502-ae05-671b7c4f2d0c	3ce6003f-639a-446e-bad7-ae6cd1e97418	g.chr3:43759228G>A	ENST00000458276.2	+	6	962	c.839G>A	c.(838-840)cGa>cAa	p.R280Q	ABHD5_ENST00000463153.1_3'UTR	NM_016006.4	NP_057090.2	Q8WTS1	ABHD5_HUMAN	abhydrolase domain containing 5	280					cell differentiation (GO:0030154)|fatty acid metabolic process (GO:0006631)|negative regulation of sequestering of triglyceride (GO:0010891)|phosphatidic acid biosynthetic process (GO:0006654)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of triglyceride catabolic process (GO:0010898)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|lysophosphatidic acid acyltransferase activity (GO:0042171)			kidney(3)|large_intestine(2)|liver(2)|lung(5)|ovary(1)|skin(1)	14		Renal(3;0.0134)		KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687)		ATGCTCCAGCGAATTGGTAAA	0.458																																						ENST00000458276.2																			0				kidney(3)|large_intestine(2)|liver(2)|lung(5)|ovary(1)|skin(1)	14						c.(838-840)cGa>cAa		abhydrolase domain containing 5							133.0	121.0	125.0					3																	43759228		2203	4300	6503	SO:0001583	missense	51099				cell differentiation|fatty acid metabolic process|negative regulation of sequestering of triglyceride|phosphatidic acid biosynthetic process|positive regulation of triglyceride catabolic process|triglyceride catabolic process	cytosol|lipid particle	1-acylglycerol-3-phosphate O-acyltransferase activity|lysophosphatidic acid acyltransferase activity	g.chr3:43759228G>A	AF007132	CCDS2711.1	3p21.33	2012-05-16			ENSG00000011198	ENSG00000011198		"""Abhydrolase domain containing"""	21396	protein-coding gene	gene with protein product		604780				11590543, 18606822	Standard	NM_016006		Approved	CGI-58, NCIE2	uc003cmx.3	Q8WTS1	OTTHUMG00000133039	ENST00000458276.2:c.839G>A	3.37:g.43759228G>A	ENSP00000390849:p.Arg280Gln					ABHD5_ENST00000463153.1_3'UTR	p.R280Q	NM_016006.4	NP_057090.2	Q8WTS1	ABHD5_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687)	6	962	+		Renal(3;0.0134)	280					B2R9K0|Q9Y369	Missense_Mutation	SNP	ENST00000458276.2	37	c.839G>A	CCDS2711.1	.	.	.	.	.	.	.	.	.	.	G	35	5.414256	0.96092	.	.	ENSG00000011198	ENST00000458276	D	0.84873	-1.91	5.68	4.79	0.61399	.	0.000000	0.85682	D	0.000000	D	0.93504	0.7927	M	0.91561	3.22	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93939	0.7221	10	0.52906	T	0.07	-0.0314	15.0316	0.71710	0.0696:0.0:0.9304:0.0	.	280	Q8WTS1	ABHD5_HUMAN	Q	280	ENSP00000390849:R280Q	ENSP00000390849:R280Q	R	+	2	0	ABHD5	43734232	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	8.013000	0.88655	2.681000	0.91329	0.591000	0.81541	CGA		0.458	ABHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256644.2	NM_016006		3	50	0	0	0	1	0	3	50				
ZXDB	158586	broad.mit.edu	37	X	57619097	57619097	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3V5-01A-11D-A22Z-08	TCGA-DJ-A3V5-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3931a87c-3bd4-4502-ae05-671b7c4f2d0c	3ce6003f-639a-446e-bad7-ae6cd1e97418	g.chrX:57619097G>A	ENST00000374888.1	+	1	829	c.616G>A	c.(616-618)Ggg>Agg	p.G206R		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	206					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.G206R(2)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						CCAGCAGCCCGGGTGTCTGAT	0.711																																						ENST00000374888.1																			2	Substitution - Missense(2)	p.G206R(2)	lung(1)|prostate(1)	NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						c.(616-618)Ggg>Agg		zinc finger, X-linked, duplicated B							12.0	14.0	13.0					X																	57619097		2186	4257	6443	SO:0001583	missense	158586				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chrX:57619097G>A	L14788	CCDS35313.1	Xp11.1	2013-01-08			ENSG00000198455	ENSG00000198455		"""Zinc fingers, C2H2-type"""	13199	protein-coding gene	gene with protein product		300236				8268913	Standard	NM_007157		Approved	ZNF905	uc004dvd.3	P98169	OTTHUMG00000021685	ENST00000374888.1:c.616G>A	X.37:g.57619097G>A	ENSP00000364023:p.Gly206Arg						p.G206R	NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN			1	829	+			206					A8K151|Q9UBB3	Missense_Mutation	SNP	ENST00000374888.1	37	c.616G>A	CCDS35313.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.654782	0.00108	.	.	ENSG00000198455	ENST00000374888	T	0.11063	2.81	2.65	1.78	0.24846	.	0.160870	0.29602	N	0.011697	T	0.04452	0.0122	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41787	-0.9489	10	0.15952	T	0.53	.	4.3042	0.10938	0.3435:0.0:0.6565:0.0	.	206	P98169	ZXDB_HUMAN	R	206	ENSP00000364023:G206R	ENSP00000364023:G206R	G	+	1	0	ZXDB	57635822	0.000000	0.05858	0.002000	0.10522	0.045000	0.14185	-0.287000	0.08388	0.520000	0.28426	0.556000	0.70494	GGG		0.711	ZXDB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056922.1	NM_007157		3	14	0	0	0	1	0	3	14				
PPARGC1B	133522	broad.mit.edu	37	5	149210402	149210402	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A3V5-01A-11D-A22Z-08	TCGA-DJ-A3V5-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3931a87c-3bd4-4502-ae05-671b7c4f2d0c	3ce6003f-639a-446e-bad7-ae6cd1e97418	g.chr5:149210402C>T	ENST00000309241.5	+	4	570	c.538C>T	c.(538-540)Cgc>Tgc	p.R180C	PPARGC1B_ENST00000403750.1_Intron|PPARGC1B_ENST00000360453.4_Intron|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.R180C	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	180					actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GACCGCCTGGCGCCAGGCAGG	0.562																																						ENST00000309241.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30						c.(538-540)Cgc>Tgc		peroxisome proliferator-activated receptor gamma, coactivator 1 beta							96.0	100.0	99.0					5																	149210402		2203	4300	6503	SO:0001583	missense	133522				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	g.chr5:149210402C>T	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"""RNA binding motif (RRM) containing"""	30022	protein-coding gene	gene with protein product		608886	"""peroxisome proliferative activated receptor, gamma, coactivator 1, beta"""			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.538C>T	5.37:g.149210402C>T	ENSP00000312649:p.Arg180Cys					PPARGC1B_ENST00000403750.1_Intron|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.R180C|PPARGC1B_ENST00000360453.4_Intron	p.R180C	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		4	570	+			180					A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Missense_Mutation	SNP	ENST00000309241.5	37	c.538C>T	CCDS4298.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.104091	0.76983	.	.	ENSG00000155846	ENST00000394320;ENST00000309241	T;T	0.09817	2.94;2.95	5.29	1.1	0.20463	.	0.775840	0.10757	N	0.637605	T	0.22003	0.0530	L	0.55481	1.735	0.80722	D	1	B;B;B;D	0.89917	0.083;0.139;0.05;1.0	B;B;B;D	0.63597	0.037;0.037;0.017;0.916	T	0.08513	-1.0718	10	0.72032	D	0.01	-5.0096	6.4763	0.22037	0.254:0.6:0.0:0.1461	.	159;159;180;180	Q86YN6-2;Q86YN6-4;Q86YN6;Q86YN6-3	.;.;PRGC2_HUMAN;.	C	180	ENSP00000377855:R180C;ENSP00000312649:R180C	ENSP00000312649:R180C	R	+	1	0	PPARGC1B	149190595	0.999000	0.42202	0.999000	0.59377	0.976000	0.68499	0.535000	0.23114	0.271000	0.22005	0.561000	0.74099	CGC		0.562	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263		4	59	0	0	0	1	0	4	59				
DGKA	1606	broad.mit.edu	37	12	56346638	56346638	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A3V5-01A-11D-A22Z-08	TCGA-DJ-A3V5-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3931a87c-3bd4-4502-ae05-671b7c4f2d0c	3ce6003f-639a-446e-bad7-ae6cd1e97418	g.chr12:56346638A>G	ENST00000331886.5	+	21	2318	c.1864A>G	c.(1864-1866)Atc>Gtc	p.I622V	DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000551156.1_Missense_Mutation_p.I622V|DGKA_ENST00000394147.1_Missense_Mutation_p.I622V	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	622					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	CCATGGGGATATCTATGGGAT	0.537																																						ENST00000331886.5																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25						c.(1864-1866)Atc>Gtc		diacylglycerol kinase, alpha 80kDa	Vitamin E(DB00163)						146.0	134.0	138.0					12																	56346638		2203	4300	6503	SO:0001583	missense	1606				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr12:56346638A>G	AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"""EF-hand domain containing"""	2849	protein-coding gene	gene with protein product		125855	"""diacylglycerol kinase, alpha (80kD)"""	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.1864A>G	12.37:g.56346638A>G	ENSP00000328405:p.Ile622Val					DGKA_ENST00000551156.1_Missense_Mutation_p.I622V|DGKA_ENST00000394147.1_Missense_Mutation_p.I622V|DGKA_ENST00000549079.2_3'UTR	p.I622V	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN			21	2318	+			622					O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Missense_Mutation	SNP	ENST00000331886.5	37	c.1864A>G	CCDS8896.1	.	.	.	.	.	.	.	.	.	.	A	1.583	-0.531071	0.04112	.	.	ENSG00000065357	ENST00000331886;ENST00000555218;ENST00000394147;ENST00000551156	D;D;D;D	0.86230	-1.86;-2.09;-1.86;-1.86	4.14	2.95	0.34219	Diacylglycerol kinase, accessory domain (2);	0.903677	0.09705	N	0.766424	T	0.76399	0.3982	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.002;0.003	T	0.61272	-0.7096	10	0.30078	T	0.28	.	5.0599	0.14551	0.5359:0.3667:0.0975:0.0	.	541;622	G3V4E1;P23743	.;DGKA_HUMAN	V	622;541;622;622	ENSP00000328405:I622V;ENSP00000451743:I541V;ENSP00000377703:I622V;ENSP00000450359:I622V	ENSP00000328405:I622V	I	+	1	0	DGKA	54632905	0.000000	0.05858	0.161000	0.22692	0.388000	0.30384	0.083000	0.14871	0.714000	0.32081	0.260000	0.18958	ATC		0.537	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407291.1			27	81	0	0	0	1	0	27	81				
TLDC1	57707	broad.mit.edu	37	16	84531595	84531595	+	Missense_Mutation	SNP	G	G	A	rs144320129		TCGA-DJ-A3V5-01A-11D-A22Z-08	TCGA-DJ-A3V5-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3931a87c-3bd4-4502-ae05-671b7c4f2d0c	3ce6003f-639a-446e-bad7-ae6cd1e97418	g.chr16:84531595G>A	ENST00000343629.6	-	2	280	c.98C>T	c.(97-99)tCa>tTa	p.S33L	TLDC1_ENST00000561807.1_5'UTR|RP11-517C16.4_ENST00000568771.1_RNA|TLDC1_ENST00000535580.1_5'UTR	NM_020947.3	NP_065998.3	Q6P9B6	TLDC1_HUMAN	TBC/LysM-associated domain containing 1	33						lysosomal membrane (GO:0005765)											GTTTTTATCTGATGACAGAGC	0.483													G|||	1	0.000199681	0.0	0.0	5008	,	,		18504	0.0		0.001	False		,,,				2504	0.0					ENST00000343629.6																			0											c.(97-99)tCa>tTa		TBC/LysM-associated domain containing 1							185.0	181.0	183.0					16																	84531595		2199	4300	6499	SO:0001583	missense	57707							g.chr16:84531595G>A	AB046829	CCDS32498.1	16q24.1	2013-03-14	2013-03-14	2013-03-14	ENSG00000140950	ENSG00000140950			29325	protein-coding gene	gene with protein product	"""TLD domain containing 1"""		"""KIAA1609"""	KIAA1609		10997877	Standard	NM_020947		Approved		uc002fib.3	Q6P9B6	OTTHUMG00000176739	ENST00000343629.6:c.98C>T	16.37:g.84531595G>A	ENSP00000343635:p.Ser33Leu					TLDC1_ENST00000561807.1_5'UTR|TLDC1_ENST00000535580.1_5'UTR	p.S33L	NM_020947.3	NP_065998.3					2	280	-								Q8IZ64|Q9HCG3|Q9NTE8	Missense_Mutation	SNP	ENST00000343629.6	37	c.98C>T	CCDS32498.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	13.28	2.190902	0.38707	.	.	ENSG00000140950	ENST00000343629	T	0.08984	3.03	5.13	3.14	0.36123	.	1.078620	0.07298	N	0.873669	T	0.10337	0.0253	M	0.63428	1.95	0.20074	N	0.999938	P	0.38922	0.651	B	0.30251	0.113	T	0.27872	-1.0061	10	0.59425	D	0.04	-2.224	9.6812	0.40072	0.176:0.0:0.824:0.0	.	33	Q6P9B6	K1609_HUMAN	L	33	ENSP00000343635:S33L	ENSP00000343635:S33L	S	-	2	0	KIAA1609	83089096	0.001000	0.12720	0.002000	0.10522	0.076000	0.17211	0.798000	0.27014	1.299000	0.44798	0.585000	0.79938	TCA		0.483	TLDC1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433421.1	NM_020947		24	104	0	0	0	1	0	24	104				
KERA	11081	broad.mit.edu	37	12	91445123	91445123	+	Nonstop_Mutation	SNP	T	T	A			TCGA-DJ-A3V5-01A-11D-A22Z-08	TCGA-DJ-A3V5-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3931a87c-3bd4-4502-ae05-671b7c4f2d0c	3ce6003f-639a-446e-bad7-ae6cd1e97418	g.chr12:91445123T>A	ENST00000266719.3	-	3	1306	c.1059A>T	c.(1057-1059)taA>taT	p.*353Y		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	0					carbohydrate metabolic process (GO:0005975)|cornea development in camera-type eye (GO:0061303)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|response to stimulus (GO:0050896)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						GAGAATGTGTTTAAATAATGA	0.383																																						ENST00000266719.3																			0				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						c.(1057-1059)taA>taT		keratocan							79.0	74.0	76.0					12																	91445123		2203	4299	6502	SO:0001578	stop_lost	11081				response to stimulus|visual perception	proteinaceous extracellular matrix		g.chr12:91445123T>A	AF063301	CCDS9037.1	12q21.3-q22	2014-09-17				ENSG00000139330		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	6309	protein-coding gene	gene with protein product	"""keratocan proteoglycan"""	603288		CNA2		10565548, 10802664	Standard	NM_007035		Approved	SLRR2B	uc001tbl.3	O60938		ENST00000266719.3:c.1059A>T	12.37:g.91445123T>A							p.*353Y	NM_007035.3	NP_008966.1	O60938	KERA_HUMAN			3	1306	-			0						Nonstop_Mutation	SNP	ENST00000266719.3	37	c.1059A>T	CCDS9037.1	.	.	.	.	.	.	.	.	.	.	T	11.65	1.701807	0.30232	.	.	ENSG00000139330	ENST00000266719	.	.	.	5.69	4.54	0.55810	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.5136	0.33233	0.0:0.1503:0.0:0.8497	.	.	.	.	Y	353	.	.	X	-	3	2	KERA	89969254	1.000000	0.71417	0.975000	0.42487	0.505000	0.33919	4.674000	0.61612	0.985000	0.38656	0.533000	0.62120	TAA		0.383	KERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407149.2	NM_007035		3	17	0	0	0	1	0	3	17				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A3V5-01A-11D-A22Z-08	TCGA-DJ-A3V5-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3931a87c-3bd4-4502-ae05-671b7c4f2d0c	3ce6003f-639a-446e-bad7-ae6cd1e97418	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		13	28	0	0	0	1	0	13	28				
RSU1	6251	broad.mit.edu	37	10	16824045	16824045	+	Missense_Mutation	SNP	T	T	G			TCGA-DJ-A3V5-01A-11D-A22Z-08	TCGA-DJ-A3V5-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3931a87c-3bd4-4502-ae05-671b7c4f2d0c	3ce6003f-639a-446e-bad7-ae6cd1e97418	g.chr10:16824045T>G	ENST00000377921.3	-	2	449	c.148A>C	c.(148-150)Aac>Cac	p.N50H	RSU1_ENST00000464074.2_Intron|RSU1_ENST00000345264.5_Missense_Mutation_p.N50H|RSU1_ENST00000602389.1_5'UTR			Q15404	RSU1_HUMAN	Ras suppressor protein 1	50					cell junction assembly (GO:0034329)|positive regulation of neural precursor cell proliferation (GO:2000179)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(1;7.54e-08)		GTTAGCTTGTTATGGCTGAGG	0.368																																						ENST00000377921.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	14						c.(148-150)Aac>Cac		Ras suppressor protein 1							180.0	169.0	173.0					10																	16824045		2203	4300	6503	SO:0001583	missense	6251				cell junction assembly|signal transduction	cytosol	protein binding	g.chr10:16824045T>G	AK055596	CCDS7112.1, CCDS31157.1	10p13	2012-09-20			ENSG00000148484	ENSG00000148484			10464	protein-coding gene	gene with protein product		179555				8288261	Standard	NM_152724		Approved	RSP-1, FLJ31034	uc001iol.3	Q15404	OTTHUMG00000017740	ENST00000377921.3:c.148A>C	10.37:g.16824045T>G	ENSP00000367154:p.Asn50His					RSU1_ENST00000602389.1_5'UTR|RSU1_ENST00000345264.5_Missense_Mutation_p.N50H|RSU1_ENST00000464074.2_Intron	p.N50H			Q15404	RSU1_HUMAN		GBM - Glioblastoma multiforme(1;7.54e-08)	2	449	-			50					A8KA46|D3DRU3|Q6FI17	Missense_Mutation	SNP	ENST00000377921.3	37	c.148A>C	CCDS7112.1	.	.	.	.	.	.	.	.	.	.	T	19.12	3.766192	0.69878	.	.	ENSG00000148484	ENST00000345264;ENST00000377921	T;T	0.61274	0.12;0.12	4.97	4.97	0.65823	.	0.107851	0.64402	D	0.000006	D	0.84261	0.5433	H	0.98682	4.3	0.58432	D	0.999999	D;D	0.89917	0.997;1.0	D;D	0.80764	0.994;0.99	D	0.89635	0.3858	10	0.87932	D	0	-8.5557	12.6646	0.56835	0.0:0.0:0.0:1.0	.	50;50	B0YJ73;Q15404	.;RSU1_HUMAN	H	50	ENSP00000339521:N50H;ENSP00000367154:N50H	ENSP00000339521:N50H	N	-	1	0	RSU1	16864051	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.749000	0.68704	2.083000	0.62718	0.533000	0.62120	AAC		0.368	RSU1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047006.1	NM_012425, NM_152724		9	12	0	0	0	1	0	9	12				
TXNDC2	84203	broad.mit.edu	37	18	9887434	9887434	+	Missense_Mutation	SNP	G	G	A	rs542784712		TCGA-DJ-A3V5-01A-11D-A22Z-08	TCGA-DJ-A3V5-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3931a87c-3bd4-4502-ae05-671b7c4f2d0c	3ce6003f-639a-446e-bad7-ae6cd1e97418	g.chr18:9887434G>A	ENST00000306084.6	+	2	1157	c.958G>A	c.(958-960)Gaa>Aaa	p.E320K	TXNDC2_ENST00000357775.5_Missense_Mutation_p.E253K|TXNDC2_ENST00000536353.2_3'UTR	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	320	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GTCCCCAGAAGAAGCCATCCA	0.592																																						ENST00000306084.6																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						c.(958-960)Gaa>Aaa		thioredoxin domain containing 2 (spermatozoa)							118.0	116.0	116.0					18																	9887434		2203	4300	6503	SO:0001583	missense	0				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9887434G>A	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.958G>A	18.37:g.9887434G>A	ENSP00000304908:p.Glu320Lys					TXNDC2_ENST00000357775.4_Missense_Mutation_p.E253K|TXNDC2_ENST00000536353.2_3'UTR	p.E320K	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN			2	1157	+			320			22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	ENST00000306084.6	37	c.958G>A	CCDS42414.1	.	.	.	.	.	.	.	.	.	.	-	9.190	1.025691	0.19512	.	.	ENSG00000168454	ENST00000536353;ENST00000357775;ENST00000306084	T;T	0.16457	2.34;2.34	4.51	-2.85	0.05734	.	1.375710	0.04920	N	0.454875	T	0.09992	0.0245	N	0.22421	0.69	0.09310	N	1	B	0.20887	0.049	B	0.26517	0.07	T	0.32824	-0.9892	9	.	.	.	0.0054	2.2126	0.03952	0.4817:0.1449:0.2484:0.125	.	320	Q86VQ3	TXND2_HUMAN	K	118;253;320	ENSP00000350419:E253K;ENSP00000304908:E320K	.	E	+	1	0	TXNDC2	9877434	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.958000	0.03857	-0.705000	0.05035	0.644000	0.83932	GAA		0.592	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			19	50	0	0	0	1	0	19	50				
RPGR	6103	broad.mit.edu	37	X	38169958	38169958	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A3V5-01A-11D-A22Z-08	TCGA-DJ-A3V5-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3931a87c-3bd4-4502-ae05-671b7c4f2d0c	3ce6003f-639a-446e-bad7-ae6cd1e97418	g.chrX:38169958C>T	ENST00000339363.3	-	7	855	c.688G>A	c.(688-690)Ggc>Agc	p.G230S	RPGR_ENST00000378505.2_Missense_Mutation_p.G230S|SNORA31_ENST00000516241.1_RNA|RPGR_ENST00000318842.7_Missense_Mutation_p.G230S|RPGR_ENST00000309513.3_Missense_Mutation_p.G230S|RPGR_ENST00000342811.3_Missense_Mutation_p.G230S|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000338898.3_Missense_Mutation_p.G230S			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	230					cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						CTGTGATTGCCCAGGAGCTGA	0.478																																						ENST00000378505.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						c.(688-690)Ggc>Agc		retinitis pigmentosa GTPase regulator							112.0	83.0	93.0					X																	38169958		2202	4300	6502	SO:0001583	missense	6103				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding	g.chrX:38169958C>T	U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"""retinitis pigmentosa 15"", ""cone dystrophy 1 (X-linked)"""	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.688G>A	X.37:g.38169958C>T	ENSP00000343671:p.Gly230Ser					RPGR_ENST00000342811.3_Missense_Mutation_p.G230S|RPGR_ENST00000338898.3_Missense_Mutation_p.G230S|RPGR_ENST00000309513.3_Missense_Mutation_p.G230S|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000318842.7_Missense_Mutation_p.G230S|RPGR_ENST00000339363.3_Missense_Mutation_p.G230S	p.G230S	NM_001034853.1	NP_001030025.1	Q92834	RPGR_HUMAN			7	864	-			230					B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Missense_Mutation	SNP	ENST00000339363.3	37	c.688G>A		.	.	.	.	.	.	.	.	.	.	N	1.724	-0.495986	0.04291	.	.	ENSG00000156313	ENST00000339363;ENST00000309513;ENST00000338898;ENST00000318842;ENST00000342811;ENST00000378505	D;D;D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8;-1.8;-1.8	5.54	-5.25	0.02781	.	2.140760	0.02402	N	0.080812	T	0.61048	0.2316	N	0.05592	-0.015	0.09310	N	1	B;B	0.25904	0.137;0.01	B;B	0.24701	0.055;0.039	T	0.57780	-0.7752	10	0.09590	T	0.72	.	4.6007	0.12352	0.234:0.3324:0.0:0.4336	.	230;230	E9PE28;Q92834-2	.;.	S	230	ENSP00000343671:G230S;ENSP00000308783:G230S;ENSP00000340208:G230S;ENSP00000322219:G230S;ENSP00000339531:G230S;ENSP00000367766:G230S	ENSP00000308783:G230S	G	-	1	0	RPGR	38054902	0.002000	0.14202	0.008000	0.14137	0.370000	0.29829	-0.609000	0.05635	-1.560000	0.01686	-0.405000	0.06341	GGC		0.478	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000328		9	15	0	0	0	1	0	9	15				
PSMD14	10213	broad.mit.edu	37	2	162226642	162226642	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DJ-A3V5-01A-11D-A22Z-08	TCGA-DJ-A3V5-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3931a87c-3bd4-4502-ae05-671b7c4f2d0c	3ce6003f-639a-446e-bad7-ae6cd1e97418	g.chr2:162226642delC	ENST00000409682.3	+	6	969	c.265delC	c.(265-267)ccafs	p.P89fs		NM_005805.5	NP_005796.1	O00487	PSDE_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 14	89	MPN.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of endopeptidase activity (GO:0010950)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K63-linked deubiquitination (GO:0070536)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle, lid subcomplex (GO:0008541)	endopeptidase activator activity (GO:0061133)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|proteasome binding (GO:0070628)|ubiquitin thiolesterase activity (GO:0004221)			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	12						GGCAGTTGATCCAGTGTTCCA	0.313																																						ENST00000409682.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	12						c.(265-267)cafs		proteasome (prosome, macropain) 26S subunit, non-ATPase, 14							71.0	67.0	69.0					2																	162226642		1894	4131	6025	SO:0001589	frameshift_variant	10213				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K63-linked deubiquitination|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	endopeptidase activator activity|metal ion binding|metallopeptidase activity|proteasome binding|ubiquitin thiolesterase activity	g.chr2:162226642delC	U86782	CCDS46437.1	2q14.3	2008-05-22			ENSG00000115233	ENSG00000115233		"""Proteasome (prosome, macropain) subunits"""	16889	protein-coding gene	gene with protein product		607173				9374539	Standard	NM_005805		Approved	POH1, pad1, Rpn11	uc002ubu.3	O00487	OTTHUMG00000153882	ENST00000409682.3:c.265delC	2.37:g.162226642delC	ENSP00000386541:p.Pro89fs						p.P89fs	NM_005805.5	NP_005796.1	O00487	PSDE_HUMAN			6	969	+			89			MPN.		B3KNW2|O00176	Frame_Shift_Del	DEL	ENST00000409682.3	37	c.265delC	CCDS46437.1																																																																																				0.313	PSMD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332833.1	NM_005805		2	4						2	4	---	---	---	---
SPACA1	81833	broad.mit.edu	37	6	88773843	88773843	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DJ-A3V5-01A-11D-A22Z-08	TCGA-DJ-A3V5-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3931a87c-3bd4-4502-ae05-671b7c4f2d0c	3ce6003f-639a-446e-bad7-ae6cd1e97418	g.chr6:88773843delC	ENST00000237201.1	+	6	754	c.637delC	c.(637-639)ccafs	p.P213fs	SPACA1_ENST00000462690.1_Intron	NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1	213					acrosome assembly (GO:0001675)	acrosomal membrane (GO:0002080)|integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		ATCAAGCCTACCAGCCACTGA	0.333																																						ENST00000237201.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20						c.(637-639)cafs		sperm acrosome associated 1							140.0	136.0	137.0					6																	88773843		2203	4300	6503	SO:0001589	frameshift_variant	81833					integral to membrane		g.chr6:88773843delC	AF203447	CCDS5014.1	6q15	2012-09-20			ENSG00000118434	ENSG00000118434			14967	protein-coding gene	gene with protein product		612739					Standard	NM_030960		Approved	SAMP32	uc003pmn.3	Q9HBV2	OTTHUMG00000015183	ENST00000237201.1:c.637delC	6.37:g.88773843delC	ENSP00000237201:p.Pro213fs					SPACA1_ENST00000462690.1_Intron	p.P213fs	NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.11)	6	754	+		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)	213						Frame_Shift_Del	DEL	ENST00000237201.1	37	c.637delC	CCDS5014.1																																																																																				0.333	SPACA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041459.1			28	43						28	43	---	---	---	---
ADSSL1	122622	broad.mit.edu	37	14	105196336	105196336	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DJ-A3V5-01A-11D-A22Z-08	TCGA-DJ-A3V5-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3931a87c-3bd4-4502-ae05-671b7c4f2d0c	3ce6003f-639a-446e-bad7-ae6cd1e97418	g.chr14:105196336delT	ENST00000332972.5	+	1	266	c.107delT	c.(106-108)ctcfs	p.L36fs	ADSSL1_ENST00000330877.2_Intron	NM_199165.1	NP_954634.1			adenylosuccinate synthase like 1											central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)		AGCACAGCCCTCCCCTGGCTG	0.667																																						ENST00000332972.5																			0				central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11						c.(106-108)ccfs		adenylosuccinate synthase like 1	L-Aspartic Acid(DB00128)						39.0	36.0	37.0					14																	105196336		2190	4292	6482	SO:0001589	frameshift_variant	122622				AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding	g.chr14:105196336delT	AK095921	CCDS9990.1, CCDS9991.1	14q32.33	2010-08-05			ENSG00000185100	ENSG00000185100			20093	protein-coding gene	gene with protein product		612498					Standard	NM_199165		Approved	FLJ38602	uc001ype.3	Q8N142		ENST00000332972.5:c.107delT	14.37:g.105196336delT	ENSP00000333019:p.Leu36fs					ADSSL1_ENST00000330877.2_Intron	p.L36fs	NM_199165.1	NP_954634.1	Q8N142	PURA1_HUMAN	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	1	266	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	0						Frame_Shift_Del	DEL	ENST00000332972.5	37	c.107delT	CCDS9991.1																																																																																				0.667	ADSSL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410531.1			2	4						2	4	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102299886	102299887	+	RNA	INS	-	-	G	rs199996275	byFrequency	TCGA-DJ-A3V5-01A-11D-A22Z-08	TCGA-DJ-A3V5-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3931a87c-3bd4-4502-ae05-671b7c4f2d0c	3ce6003f-639a-446e-bad7-ae6cd1e97418	g.chr15:102299886_102299887insG	ENST00000561463.1	+	0	7932_7933									DNM1 pseudogene 47																		AACCTGTACTCGCGTCGGAACC	0.589													|||unknown(NO_COVERAGE)	758	0.151358	0.2511	0.1167	5008	,	,		74102	0.0595		0.163	False		,,,				2504	0.1237					ENST00000561463.1																			0																																																			0							g.chr15:102299886_102299887insG	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102299887_102299887dupG														0	7932_7933	+									RNA	INS	ENST00000561463.1	37																																																																																						0.589	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		2	4						2	4	---	---	---	---
