#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
ANKEF1	63926	broad.mit.edu	37	20	10025162	10025162	+	Missense_Mutation	SNP	C	C	G	rs199742800		TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr20:10025162C>G	ENST00000378380.3	+	4	996	c.667C>G	c.(667-669)Cat>Gat	p.H223D	SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000378392.1_Missense_Mutation_p.H223D|ANKEF1_ENST00000488991.1_3'UTR	NM_198798.1	NP_942093.1	Q9NU02	ANKE1_HUMAN	ankyrin repeat and EF-hand domain containing 1	223							calcium ion binding (GO:0005509)										TCACGCTGCTCATTTTGCTGC	0.368																																						uc002wno.3																			0				breast(2)|endometrium(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	37						c.(667-669)Cat>Gat		Homo sapiens ankyrin repeat domain 5 (ANKRD5), transcript variant 1, mRNA.							205.0	187.0	193.0					20																	10025162		2203	4300	6503	SO:0001583	missense	63926						calcium ion binding	g.chr20:10025162C>G	AK025322	CCDS13108.1	20p12.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000132623	ENSG00000132623		"""EF-hand domain containing"", ""Ankyrin repeat domain containing"""	15803	protein-coding gene	gene with protein product			"""ankyrin repeat domain 5"""	ANKRD5		17142250	Standard	NM_022096		Approved	FLJ21669, dJ839B4.6	uc002wnp.3	Q9NU02	OTTHUMG00000031860	ENST00000378380.3:c.667C>G	20.37:g.10025162C>G	ENSP00000367631:p.His223Asp					LOC100131208_uc002wnn.2_Intron|ANKRD5_uc002wnp.3_Missense_Mutation_p.H223D|ANKRD5_uc010gbz.3_Missense_Mutation_p.H34D	p.H223D	NM_022096	NP_942093	Q9NU02	ANKR5_HUMAN			4	1060	+			223					B3KUQ0|Q9H6Y9	Missense_Mutation	SNP	ENST00000378380.3	37	c.667C>G	CCDS13108.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.230091	0.79688	.	.	ENSG00000132623	ENST00000378392;ENST00000378380	T;T	0.71341	-0.56;-0.56	5.34	5.34	0.76211	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.87692	0.6241	M	0.90705	3.14	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89642	0.3863	10	0.72032	D	0.01	-2.3547	19.4188	0.94712	0.0:1.0:0.0:0.0	.	223	Q9NU02	ANKR5_HUMAN	D	223	ENSP00000367644:H223D;ENSP00000367631:H223D	ENSP00000367631:H223D	H	+	1	0	ANKRD5	9973162	1.000000	0.71417	1.000000	0.80357	0.704000	0.40688	6.817000	0.75252	2.664000	0.90586	0.655000	0.94253	CAT		0.368	ANKEF1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077968.2	NM_022096		14	140	0	0	0	1	0	14	140				
TYRP1	7306	broad.mit.edu	37	9	12695656	12695656	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr9:12695656C>T	ENST00000388918.5	+	3	656	c.527C>T	c.(526-528)aCg>aTg	p.T176M	TYRP1_ENST00000381137.2_5'UTR|TYRP1_ENST00000381136.2_5'Flank	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	176					acetoacetic acid metabolic process (GO:0043438)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome organization (GO:0032438)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen (GO:0016716)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		GATGGCAACACGCCACAATTT	0.448									Oculocutaneous Albinism																													uc003zkv.4																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22						c.(526-528)aCg>aTg		Homo sapiens tyrosinase-related protein 1 (TYRP1), mRNA.							114.0	108.0	110.0					9																	12695656		2203	4300	6503	SO:0001583	missense	7306	Oculocutaneous Albinism	Familial Cancer Database		melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity	g.chr9:12695656C>T	L33830	CCDS34990.1	9p23	2013-01-08			ENSG00000107165	ENSG00000107165			12450	protein-coding gene	gene with protein product		115501		TYRP, CAS2		9434945	Standard	NM_000550		Approved	GP75, CATB, TRP, b-PROTEIN, OCA3	uc003zkv.4	P17643	OTTHUMG00000021034	ENST00000388918.5:c.527C>T	9.37:g.12695656C>T	ENSP00000373570:p.Thr176Met						p.T176M	NM_000550	NP_000541	P17643	TYRP1_HUMAN		GBM - Glioblastoma multiforme(50;9.85e-06)	2	705	+		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)	176					P78468|P78469|Q13721|Q15679	Missense_Mutation	SNP	ENST00000388918.5	37	c.527C>T	CCDS34990.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.124942	0.56613	.	.	ENSG00000107165	ENST00000388918	D	0.84298	-1.83	5.5	4.61	0.57282	Uncharacterised domain, di-copper centre (2);	0.241758	0.47852	D	0.000218	D	0.92215	0.7531	M	0.86097	2.795	0.80722	D	1	D	0.89917	1.0	D	0.65874	0.939	D	0.93299	0.6675	10	0.66056	D	0.02	-18.6214	14.7357	0.69414	0.0:0.9299:0.0:0.0701	.	176	P17643	TYRP1_HUMAN	M	176	ENSP00000373570:T176M	ENSP00000373570:T176M	T	+	2	0	TYRP1	12685656	0.889000	0.30405	0.848000	0.33437	0.950000	0.60333	1.799000	0.38824	1.456000	0.47831	0.467000	0.42956	ACG		0.448	TYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055502.3	NM_000550		24	79	0	0	0	1	0	24	79				
SPTY2D1	144108	broad.mit.edu	37	11	18633034	18633034	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr11:18633034C>T	ENST00000336349.5	-	5	2189	c.1954G>A	c.(1954-1956)Gaa>Aaa	p.E652K	SPTY2D1-AS1_ENST00000501599.2_RNA	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	652										breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						CTCTTTGCTTCTTCCTTCTGC	0.353																																						uc001moy.3																			0				breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						c.(1954-1956)Gaa>Aaa		Homo sapiens SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae) (SPTY2D1), mRNA.							227.0	202.0	211.0					11																	18633034		2198	4293	6491	SO:0001583	missense	144108							g.chr11:18633034C>T	BX647798	CCDS31441.1	11p15.1	2005-10-28			ENSG00000179119	ENSG00000179119			26818	protein-coding gene	gene with protein product							Standard	NM_194285		Approved	FLJ39441, DKFZp686I068	uc001moy.3	Q68D10	OTTHUMG00000167733	ENST00000336349.5:c.1954G>A	11.37:g.18633034C>T	ENSP00000337991:p.Glu652Lys						p.E652K	NM_194285	NP_919261	Q68D10	SPT2_HUMAN			4	2170	-			652					Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Missense_Mutation	SNP	ENST00000336349.5	37	c.1954G>A	CCDS31441.1	.	.	.	.	.	.	.	.	.	.	C	36	5.625370	0.96671	.	.	ENSG00000179119	ENST00000336349	T	0.70516	-0.49	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.87752	0.6256	M	0.89715	3.055	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	D	0.89625	0.3851	10	0.87932	D	0	-17.4427	19.6819	0.95967	0.0:1.0:0.0:0.0	.	652	Q68D10	SPT2_HUMAN	K	652	ENSP00000337991:E652K	ENSP00000337991:E652K	E	-	1	0	SPTY2D1	18589610	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.352000	0.79404	2.656000	0.90262	0.563000	0.77884	GAA		0.353	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395941.1	NM_194285		8	82	0	0	0	1	0	8	82				
SBF1	6305	broad.mit.edu	37	22	50894771	50894771	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr22:50894771G>C	ENST00000390679.3	-	30	4246	c.4062C>G	c.(4060-4062)ttC>ttG	p.F1354L	SBF1_ENST00000348911.6_Missense_Mutation_p.F1355L|SBF1_ENST00000380817.3_Missense_Mutation_p.F1380L|SBF1_ENST00000476293.1_5'Flank			O95248	MTMR5_HUMAN	SET binding factor 1	1354	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GCCGTGCCTCGAATACCTCAA	0.617																																						uc003blh.3																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(4138-4140)ttC>ttG		Homo sapiens SET binding factor 1 (SBF1), mRNA.							32.0	38.0	36.0					22																	50894771		2094	4204	6298	SO:0001583	missense	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50894771G>C	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.4062C>G	22.37:g.50894771G>C	ENSP00000375097:p.Phe1354Leu					SBF1_uc003ble.3_5'Flank|SBF1_uc011arx.2_Missense_Mutation_p.F1018L	p.F1380L	NM_002972	NP_002963	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	30	4335	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1354			Myotubularin phosphatase.		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	37	c.4140C>G		.	.	.	.	.	.	.	.	.	.	G	8.947	0.967276	0.18659	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000337034;ENST00000390679	D;D;D	0.89810	-2.57;-2.57;-2.57	5.02	-1.06	0.10002	Myotubularin phosphatase domain (1);	0.382752	0.29059	N	0.013278	T	0.80407	0.4617	L	0.39397	1.21	0.40216	D	0.977685	B;B	0.17852	0.003;0.024	B;B	0.18561	0.011;0.022	T	0.65483	-0.6157	10	0.11794	T	0.64	.	11.5497	0.50713	0.5413:0.0:0.4587:0.0	.	1354;1380	O95248;O95248-4	MTMR5_HUMAN;.	L	1380;1355;1390;1354	ENSP00000370196:F1380L;ENSP00000252027:F1355L;ENSP00000375097:F1354L	ENSP00000336522:F1390L	F	-	3	2	SBF1	49241637	0.000000	0.05858	0.995000	0.50966	0.967000	0.64934	-2.684000	0.00835	-0.130000	0.11599	-0.357000	0.07601	TTC		0.617	SBF1-201	KNOWN	basic	protein_coding	protein_coding				5	43	0	0	0	1	0	5	43				
RYR1	6261	broad.mit.edu	37	19	38958277	38958277	+	Missense_Mutation	SNP	A	A	T			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr19:38958277A>T	ENST00000359596.3	+	25	3206	c.3206A>T	c.(3205-3207)gAc>gTc	p.D1069V	RYR1_ENST00000360985.3_Missense_Mutation_p.D1069V|RYR1_ENST00000355481.4_Missense_Mutation_p.D1069V			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1069	6 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TCTCGTTGTGACCGGGTGCGC	0.557																																						uc002oit.3																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(3205-3207)gAc>gTc		Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	Dantrolene(DB01219)						101.0	96.0	97.0					19																	38958277		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38958277A>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.3206A>T	19.37:g.38958277A>T	ENSP00000352608:p.Asp1069Val					RYR1_uc002oiu.3_Missense_Mutation_p.D1069V	p.D1069V	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		24	3336	+	all_cancers(60;7.91e-06)		1069			6 X approximate repeats.|B30.2/SPRY 2.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.3206A>T	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	a	8.871	0.949270	0.18356	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.96913	-4.17;-4.17;-4.17	2.92	2.92	0.33932	B30.2/SPRY domain (1);	0.080781	0.45606	U	0.000349	D	0.96430	0.8835	L	0.45698	1.435	0.58432	D	0.999999	D;D	0.76494	0.999;0.997	D;D	0.70227	0.961;0.968	D	0.95703	0.8751	10	0.54805	T	0.06	.	10.858	0.46810	1.0:0.0:0.0:0.0	.	1069;1069	P21817-2;P21817	.;RYR1_HUMAN	V	1069	ENSP00000352608:D1069V;ENSP00000347667:D1069V;ENSP00000354254:D1069V	ENSP00000347667:D1069V	D	+	2	0	RYR1	43650117	1.000000	0.71417	0.995000	0.50966	0.524000	0.34500	4.125000	0.57931	1.600000	0.50102	0.130000	0.15844	GAC		0.557	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			23	109	0	0	0	1	0	23	109				
CACNG7	59284	broad.mit.edu	37	19	54418665	54418665	+	Silent	SNP	C	C	T			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr19:54418665C>T	ENST00000391767.1	+	4	542	c.330C>T	c.(328-330)ctC>ctT	p.L110L	CACNG7_ENST00000222212.2_Silent_p.L110L|CACNG7_ENST00000468076.1_3'UTR|CACNG7_ENST00000391766.1_Silent_p.L110L			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	110					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		GCCTCTTCCTCGTGTTCACGG	0.607																																						uc002qcr.2																			0				NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(328-330)ctC>ctT		Homo sapiens calcium channel, voltage-dependent, gamma subunit 7 (CACNG7), mRNA.							105.0	88.0	94.0					19																	54418665		2203	4300	6503	SO:0001819	synonymous_variant	59284				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr19:54418665C>T	AF288387	CCDS12868.1	19q13.4	2008-05-02			ENSG00000105605	ENSG00000105605		"""Calcium channel subunits"""	13626	protein-coding gene	gene with protein product		606899				11170751	Standard	NM_031896		Approved		uc002qcr.2	P62955	OTTHUMG00000064852	ENST00000391767.1:c.330C>T	19.37:g.54418665C>T						CACNG7_uc010era.2_Silent_p.L110L	p.L110L	NM_031896	NP_114102	P62955	CCG7_HUMAN		GBM - Glioblastoma multiforme(134;0.0711)	2	425	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		110					Q52LL8|Q8VBX3|Q8WXS6|Q9BXT1	Silent	SNP	ENST00000391767.1	37	c.330C>T	CCDS12868.1																																																																																				0.607	CACNG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139240.2			7	81	0	0	0	1	0	7	81				
DOLK	22845	broad.mit.edu	37	9	131709562	131709562	+	Silent	SNP	A	A	G			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr9:131709562A>G	ENST00000372586.3	-	1	336	c.21T>C	c.(19-21)tcT>tcC	p.S7S	RP11-101E3.5_ENST00000482796.1_Intron|NUP188_ENST00000372577.2_5'Flank	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN	dolichol kinase	7					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|dolichyl monophosphate biosynthetic process (GO:0043048)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	dolichol kinase activity (GO:0004168)			breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						CCGGGGCCGGAGATGGGCACT	0.667																																						uc004bwr.3																			0				breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						c.(19-21)tcT>tcC		Homo sapiens dolichol kinase (DOLK), mRNA.																																				SO:0001819	synonymous_variant	22845				dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane|membrane fraction	dolichol kinase activity	g.chr9:131709562A>G	AB029017	CCDS6915.1	9q34.13	2014-09-17	2007-02-09	2007-02-09	ENSG00000175283	ENSG00000175283			23406	protein-coding gene	gene with protein product	"""dolichol kinase 1"""	610746	"""transmembrane protein 15"""	TMEM15		12975309, 16923818	Standard	NM_014908		Approved	KIAA1094, DK1	uc004bwr.3	Q9UPQ8	OTTHUMG00000020765	ENST00000372586.3:c.21T>C	9.37:g.131709562A>G						NUP188_uc004bws.1_5'Flank|NUP188_uc004bwq.1_Intron	p.S7S	NM_014908	NP_055723	Q9UPQ8	DOLK_HUMAN			0	451	-			7					Q5SRE6	Silent	SNP	ENST00000372586.3	37	c.21T>C	CCDS6915.1																																																																																				0.667	DOLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054515.1	NM_014908		11	27	0	0	0	1	0	11	27				
AHNAK2	113146	broad.mit.edu	37	14	105416999	105416999	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr14:105416999C>G	ENST00000333244.5	-	7	4908	c.4789G>C	c.(4789-4791)Gat>Cat	p.D1597H	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1597						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCCTTAACATCTATCTGGGGC	0.607																																						uc010axc.1																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(4789-4791)Gat>Cat		Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.							107.0	119.0	115.0					14																	105416999		1803	4019	5822	SO:0001583	missense	113146					nucleus		g.chr14:105416999C>G	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.4789G>C	14.37:g.105416999C>G	ENSP00000353114:p.Asp1597His					AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.D1497H	p.D1597H	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		6	4909	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1597					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.4789G>C	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	7.019	0.558251	0.13436	.	.	ENSG00000185567	ENST00000333244	T	0.01981	4.52	2.4	2.4	0.29515	.	.	.	.	.	T	0.11024	0.0269	M	0.77616	2.38	0.09310	N	1	D	0.89917	1.0	D	0.73380	0.98	T	0.03374	-1.1043	9	0.54805	T	0.06	-15.948	11.3561	0.49617	0.0:0.797:0.203:0.0	.	1597	Q8IVF2	AHNK2_HUMAN	H	1597	ENSP00000353114:D1597H	ENSP00000353114:D1597H	D	-	1	0	AHNAK2	104488044	0.000000	0.05858	0.030000	0.17652	0.001000	0.01503	-0.246000	0.08878	1.672000	0.50884	0.485000	0.47835	GAT		0.607	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		7	89	0	0	0	1	0	7	89				
OR7A5	26659	broad.mit.edu	37	19	14938639	14938639	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr19:14938639G>T	ENST00000322301.3	-	2	502	c.415C>A	c.(415-417)Cac>Aac	p.H139N	OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Missense_Mutation_p.H139N			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	139					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						CCACAGAGGTGAGGGTTCATA	0.498																																						uc010xoa.2																			0				breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(415-417)Cac>Aac		Homo sapiens olfactory receptor, family 7, subfamily A, member 5 (OR7A5), mRNA.							81.0	75.0	77.0					19																	14938639		2203	4300	6503	SO:0001583	missense	26659				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14938639G>T	X64976	CCDS12318.1	19p13.1	2012-08-09	2003-12-09			ENSG00000188269		"""GPCR / Class A : Olfactory receptors"""	8368	protein-coding gene	gene with protein product			"""olfactory receptor, family 7, subfamily A, member 5 pseudogene"""				Standard	XM_006722722		Approved	HTPCR2	uc002mzw.3	Q15622		ENST00000322301.3:c.415C>A	19.37:g.14938639G>T	ENSP00000316955:p.His139Asn					OR7A5_uc002mzw.3_Missense_Mutation_p.H139N	p.H139N	NM_017506	NP_059976	Q15622	OR7A5_HUMAN			1	503	-			139					B2R682|Q6IFP1|Q96R96	Missense_Mutation	SNP	ENST00000322301.3	37	c.415C>A	CCDS12318.1	.	.	.	.	.	.	.	.	.	.	g	9.330	1.060394	0.19987	.	.	ENSG00000188269	ENST00000322301	T	0.01068	5.38	3.13	-4.78	0.03209	GPCR, rhodopsin-like superfamily (1);	0.877251	0.09040	U	0.857423	T	0.00666	0.0022	N	0.11870	0.19	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.48990	-0.8985	10	0.62326	D	0.03	.	0.7771	0.01034	0.2124:0.1424:0.2136:0.4316	.	139	Q15622	OR7A5_HUMAN	N	139	ENSP00000316955:H139N	ENSP00000316955:H139N	H	-	1	0	OR7A5	14799639	0.000000	0.05858	0.001000	0.08648	0.086000	0.17979	-2.572000	0.00912	-0.447000	0.07138	0.134000	0.15878	CAC		0.498	OR7A5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466518.1	NM_017506		11	54	0	0	0	1	0	11	54				
TBC1D9	23158	broad.mit.edu	37	4	141543797	141543797	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr4:141543797G>C	ENST00000442267.2	-	21	3427	c.3353C>G	c.(3352-3354)gCc>gGc	p.A1118G		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1118							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				GCTGTCGGGGGCCAGGCTGGC	0.657																																						uc010ioj.3																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31						c.(3352-3354)gCc>gGc		Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.							38.0	44.0	42.0					4																	141543797		1976	4143	6119	SO:0001583	missense	23158					intracellular	Rab GTPase activator activity|calcium ion binding	g.chr4:141543797G>C	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"""EF-hand domain containing"""	21710	protein-coding gene	gene with protein product			"""TBC1 domain family, member 9"""			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.3353C>G	4.37:g.141543797G>C	ENSP00000411197:p.Ala1118Gly						p.A1118G	NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN			20	3625	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	1118					A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	ENST00000442267.2	37	c.3353C>G	CCDS47136.1	.	.	.	.	.	.	.	.	.	.	G	1.041	-0.678968	0.03378	.	.	ENSG00000109436	ENST00000442267	T	0.08458	3.09	4.64	2.76	0.32466	.	.	.	.	.	T	0.06188	0.0160	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.42241	-0.9463	9	0.17369	T	0.5	.	5.2918	0.15731	0.1364:0.4491:0.4146:0.0	.	1118	Q6ZT07	TBCD9_HUMAN	G	1118	ENSP00000411197:A1118G	ENSP00000411197:A1118G	A	-	2	0	TBC1D9	141763247	0.000000	0.05858	0.012000	0.15200	0.362000	0.29581	-0.028000	0.12350	0.925000	0.37094	0.655000	0.94253	GCC		0.657	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130		12	41	0	0	0	1	0	12	41				
FERMT1	55612	broad.mit.edu	37	20	6068514	6068514	+	Silent	SNP	G	G	A			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr20:6068514G>A	ENST00000217289.4	-	11	2069	c.1281C>T	c.(1279-1281)ccC>ccT	p.P427P	FERMT1_ENST00000536936.1_Silent_p.P170P|FERMT1_ENST00000478194.1_5'UTR	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	427	FERM.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell adhesion (GO:0007155)|establishment of epithelial cell polarity (GO:0090162)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						CATTTACATCGGGCACAACTT	0.383																																						uc002wmr.3																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						c.(1279-1281)ccC>ccT		Homo sapiens fermitin family member 1 (FERMT1), mRNA.							148.0	137.0	141.0					20																	6068514		2203	4300	6503	SO:0001819	synonymous_variant	55612				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding	g.chr20:6068514G>A	AK000123	CCDS13098.1	20p12.3	2013-01-10	2010-06-24	2007-12-14	ENSG00000101311	ENSG00000101311		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	15889	protein-coding gene	gene with protein product	"""kindlin-1"", ""kinderlin"""	607900	"""chromosome 20 open reading frame 42"", ""fermitin family homolog 1 (Drosophila)"""	C20orf42		12697302, 12789646	Standard	NM_017671		Approved	FLJ20116, URP1, KIND1, UNC112A	uc002wmr.3	Q9BQL6	OTTHUMG00000031826	ENST00000217289.4:c.1281C>T	20.37:g.6068514G>A						FERMT1_uc002wmq.3_5'UTR|FERMT1_uc010gbt.3_Silent_p.P170P|FERMT1_uc002wms.3_Silent_p.P427P	p.P427P	NM_017671	NP_060141	Q9BQL6	FERM1_HUMAN			10	2070	-			427			FERM.|PH.		D3DW10|Q8IX34|Q8IYH2|Q9NWM2|Q9NXQ3	Silent	SNP	ENST00000217289.4	37	c.1281C>T	CCDS13098.1																																																																																				0.383	FERMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077908.2	NM_017671		26	100	0	0	0	1	0	26	100				
POLE	5426	broad.mit.edu	37	12	133220461	133220461	+	Silent	SNP	G	G	A			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr12:133220461G>A	ENST00000320574.5	-	33	4295	c.4252C>T	c.(4252-4254)Ctg>Ttg	p.L1418L	POLE_ENST00000434528.3_5'Flank|POLE_ENST00000535270.1_Silent_p.L1391L	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1418					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	GGCGCTGACAGCTCAGCGTTG	0.542								DNA polymerases (catalytic subunits)																														uc001uks.1																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(4252-4254)Ctg>Ttg	DNA polymerases (catalytic subunits)	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.							203.0	167.0	179.0					12																	133220461		2203	4300	6503	SO:0001819	synonymous_variant	5426				DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding	g.chr12:133220461G>A		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.4252C>T	12.37:g.133220461G>A						POLE_uc001ukq.1_5'Flank|POLE_uc001ukr.1_Silent_p.L222L|POLE_uc010tbq.1_Non-coding_Transcript|POLE_uc009zyu.1_Silent_p.L1391L	p.L1418L	NM_006231	NP_006222	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	32	4296	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	1418					Q13533|Q86VH9	Silent	SNP	ENST00000320574.5	37	c.4252C>T	CCDS9278.1																																																																																				0.542	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		3	41	0	0	0	1	0	3	41				
C3orf58	205428	broad.mit.edu	37	3	143691563	143691563	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr3:143691563C>G	ENST00000315691.3	+	1	924	c.389C>G	c.(388-390)aCc>aGc	p.T130S	C3orf58_ENST00000493396.1_3'UTR|C3orf58_ENST00000441925.2_5'Flank|C3orf58_ENST00000495414.1_5'Flank	NM_173552.3	NP_775823.1	Q8NDZ4	DIA1_HUMAN	chromosome 3 open reading frame 58	130					cardiac muscle cell proliferation (GO:0060038)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	COPI vesicle coat (GO:0030126)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AAGCGGGCCACCGGCCGGCCC	0.766																																						uc003evo.3																			0		p.T130P(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(388-390)aCc>aGc		Homo sapiens chromosome 3 open reading frame 58 (C3orf58), transcript variant 1, mRNA.							6.0	7.0	7.0					3																	143691563		1808	3700	5508	SO:0001583	missense	205428					COPI vesicle coat|extracellular region		g.chr3:143691563C>G	AK095161	CCDS3130.1, CCDS46929.1	3q24	2013-12-06			ENSG00000181744	ENSG00000181744			28490	protein-coding gene	gene with protein product	"""deleted in autism 1"", ""hypoxia and Akt induced stem cell factor"""	612200				21283809, 23784961, 24269490	Standard	NM_173552		Approved	MGC33365, DIA1, HASF	uc003evo.3	Q8NDZ4	OTTHUMG00000159380	ENST00000315691.3:c.389C>G	3.37:g.143691563C>G	ENSP00000320081:p.Thr130Ser					C3orf58_uc011bnl.2_5'Flank	p.T130S	NM_173552	NP_775823	Q8NDZ4	CC058_HUMAN			0	924	+			130					B2RCF2|B7Z1W3	Missense_Mutation	SNP	ENST00000315691.3	37	c.389C>G	CCDS3130.1	.	.	.	.	.	.	.	.	.	.	C	9.919	1.211648	0.22289	.	.	ENSG00000181744	ENST00000315691	T	0.27720	1.65	3.89	3.89	0.44902	.	0.000000	0.85682	D	0.000000	T	0.17831	0.0428	N	0.17082	0.46	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.05649	-1.0872	10	0.06625	T	0.88	.	16.0803	0.81001	0.0:1.0:0.0:0.0	.	130	Q8NDZ4	CC058_HUMAN	S	130	ENSP00000320081:T130S	ENSP00000320081:T130S	T	+	2	0	C3orf58	145174253	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.028000	0.57246	2.027000	0.59764	0.561000	0.74099	ACC		0.766	C3orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355038.1	NM_173552		3	11	0	0	0	1	0	3	11				
PRSS48	345062	broad.mit.edu	37	4	152203401	152203401	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr4:152203401C>A	ENST00000455694.2	+	3	319	c.317C>A	c.(316-318)cCc>cAc	p.P106H	SH3D19_ENST00000604030.1_Intron|PRSS48_ENST00000441586.2_Intron	NM_183375.2	NP_899231.2	Q7RTY5	PRS48_HUMAN	protease, serine, 48	106	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						GTCATCCATCCCAAGTACCAA	0.468																																						uc011cif.2																			0				kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						c.(316-318)cCc>cAc		Homo sapiens protease, serine, 48 (PRSS48), mRNA.							285.0	268.0	273.0					4																	152203401		2055	4219	6274	SO:0001583	missense	345062				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr4:152203401C>A	BN000134	CCDS47145.1	4q31.3	2010-05-07			ENSG00000189099	ENSG00000189099		"""Serine peptidases / Serine peptidases"""	24635	protein-coding gene	gene with protein product						12838346	Standard	NM_183375		Approved	ESSPL	uc011cif.2	Q7RTY5	OTTHUMG00000161673	ENST00000455694.2:c.317C>A	4.37:g.152203401C>A	ENSP00000401328:p.Pro106His					PRSS48_uc011cig.2_Intron	p.P106H	NM_183375	NP_899231	Q7RTY5	PRS48_HUMAN			2	317	+			106			Peptidase S1.		Q08E82|Q0VAD4	Missense_Mutation	SNP	ENST00000455694.2	37	c.317C>A	CCDS47145.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.75|15.75	2.925812|2.925812	0.52759|0.52759	.|.	.|.	ENSG00000189099|ENSG00000189099	ENST00000455694|ENST00000530477	T|.	0.45276|.	0.9|.	3.59|3.59	1.81|1.81	0.25067|0.25067	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);|.	0.976038|0.976038	0.08329|0.08329	N|N	0.962553|0.962553	T|T	0.76758|0.76758	0.4032|0.4032	M|M	0.88704|0.88704	2.975|2.975	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.75484|.	0.986|.	T|T	0.72097|0.72097	-0.4393|-0.4393	10|7	0.72032|0.66056	D|D	0.01|0.02	.|.	7.9136|7.9136	0.29806|0.29806	0.1809:0.6439:0.1753:0.0|0.1809:0.6439:0.1753:0.0	.|.	106|.	Q7RTY5|.	PRS48_HUMAN|.	H|T	106|89	ENSP00000401328:P106H|.	ENSP00000401328:P106H|ENSP00000431197:P89T	P|P	+|+	2|1	0|0	PRSS48|PRSS48	152422851|152422851	0.173000|0.173000	0.23056|0.23056	0.078000|0.078000	0.20375|0.20375	0.103000|0.103000	0.19146|0.19146	2.858000|2.858000	0.48356|0.48356	0.480000|0.480000	0.27534|0.27534	0.467000|0.467000	0.42956|0.42956	CCC|CCA		0.468	PRSS48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365685.3	NM_183375		10	190	0	0	0	1	0	10	190				
RNF213	57674	broad.mit.edu	37	17	78362950	78362950	+	Intron	SNP	C	C	A			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr17:78362950C>A	ENST00000582970.1	+	65	15143				CTD-2047H16.4_ENST00000573394.1_RNA|RNF213_ENST00000508628.2_Intron|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000427003.3_Intron|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Intron	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213						ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ACAGACATCCCTCTCCTGCTT	0.582																																						uc010dhx.2																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(28-30)cCt>cAt		Homo sapiens mRNA for KIAA1554 protein, partial cds.							86.0	71.0	76.0					17																	78362950		2203	4300	6503	SO:0001627	intron_variant	57674							g.chr17:78362950C>A	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.15001-23C>A	17.37:g.78362950C>A						RNF213_uc002jyh.2_Intron|RNF213_uc021uen.1_Intron|LOC100294362_uc002jyi.2_Intron	p.P10H			Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		2	922	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.29C>A	CCDS58606.1																																																																																				0.582	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		3	67	0	0	0	1	0	3	67				
EIF4ENIF1	56478	broad.mit.edu	37	22	31851280	31851280	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr22:31851280G>C	ENST00000397525.1	-	9	1344	c.1121C>G	c.(1120-1122)tCt>tGt	p.S374C	EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.S374C|EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.S53C|RP11-247I13.11_ENST00000464523.1_RNA|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.S374C|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.S211C	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	374						cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTGTCCAGGAGAGAGGATGGC	0.378																																						uc003akz.2																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1120-1122)tCt>tGt		Homo sapiens eukaryotic translation initiation factor 4E nuclear import factor 1 (EIF4ENIF1), transcript variant 2, mRNA.							69.0	68.0	68.0					22																	31851280		2203	4300	6503	SO:0001583	missense	56478					nucleus	protein binding|protein transporter activity	g.chr22:31851280G>C	AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.1121C>G	22.37:g.31851280G>C	ENSP00000380659:p.Ser374Cys					EIF4ENIF1_uc003akx.2_Missense_Mutation_p.S53C|EIF4ENIF1_uc003aky.2_Missense_Mutation_p.S53C|EIF4ENIF1_uc003ala.2_Missense_Mutation_p.S374C|EIF4ENIF1_uc003alb.2_Missense_Mutation_p.S211C	p.S374C	NM_001164501	NP_062817	Q9NRA8	4ET_HUMAN			8	1319	-			374					B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Missense_Mutation	SNP	ENST00000397525.1	37	c.1121C>G	CCDS13898.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.682474	0.88542	.	.	ENSG00000184708	ENST00000344710;ENST00000397525;ENST00000330125;ENST00000397523;ENST00000382180;ENST00000420671	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.77791	0.4183	M	0.63843	1.955	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.87578	0.998;0.998;0.998;0.997	T	0.77864	-0.2429	9	0.62326	D	0.03	-17.1934	17.4871	0.87692	0.0:0.0:1.0:0.0	.	211;374;211;374	B1AKL3;Q9NRA8;Q9NRA8-2;B1AKL4	.;4ET_HUMAN;.;.	C	211;374;374;374;53;374	.	ENSP00000328103:S374C	S	-	2	0	EIF4ENIF1	30181280	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.615000	0.90920	2.797000	0.96272	0.655000	0.94253	TCT		0.378	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	NM_019843		6	46	0	0	0	1	0	6	46				
DVL3	1857	broad.mit.edu	37	3	183882940	183882940	+	Silent	SNP	G	G	A			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr3:183882940G>A	ENST00000313143.3	+	6	887	c.639G>A	c.(637-639)ctG>ctA	p.L213L	EIF2B5_ENST00000444495.1_Intron|DVL3_ENST00000431765.1_Silent_p.L213L	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	213					canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|intracellular signal transduction (GO:0035556)|non-canonical Wnt signaling pathway (GO:0035567)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|outflow tract septum morphogenesis (GO:0003148)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cell cortex (GO:0005938)	beta-catenin binding (GO:0008013)|frizzled binding (GO:0005109)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			CCTCACGCCTGATGAGAAGAC	0.642																																						uc003fms.3																			0		p.R212C(1)		breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35						c.(637-639)ctG>ctA		Homo sapiens dishevelled, dsh homolog 3 (Drosophila) (DVL3), mRNA.							55.0	63.0	60.0					3																	183882940		2203	4300	6503	SO:0001819	synonymous_variant	1857				canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity	g.chr3:183882940G>A	D86963	CCDS3253.1	3q27	2013-05-22	2013-05-22		ENSG00000161202	ENSG00000161202		"""Dishevelled homologs"""	3087	protein-coding gene	gene with protein product		601368	"""dishevelled 3 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 3 (Drosophila)"""			8817329	Standard	NM_004423		Approved	KIAA0208	uc003fms.3	Q92997	OTTHUMG00000156841	ENST00000313143.3:c.639G>A	3.37:g.183882940G>A						DVL3_uc011bqw.2_Silent_p.L213L|DVL3_uc003fmt.3_5'UTR|DVL3_uc003fmu.3_Silent_p.L45L	p.L213L	NM_004423	NP_004414	Q92997	DVL3_HUMAN	Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)		5	779	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		213					B4E3E5|D3DNT0|O14642|Q13531|Q8N5E9|Q92607	Silent	SNP	ENST00000313143.3	37	c.639G>A	CCDS3253.1																																																																																				0.642	DVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346184.1	NM_004423		5	59	0	0	0	1	0	5	59				
GFRA3	2676	broad.mit.edu	37	5	137595283	137595283	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr5:137595283C>G	ENST00000274721.3	-	3	681	c.435G>C	c.(433-435)tgG>tgC	p.W145C	GFRA3_ENST00000378362.3_Intron	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	145					nervous system development (GO:0007399)|neuron migration (GO:0001764)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extrinsic component of membrane (GO:0019898)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|receptor binding (GO:0005102)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GATTCATTTTCCAGGGTTTGC	0.557																																						uc003lcn.3																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12						c.(433-435)tgG>tgC		Homo sapiens GDNF family receptor alpha 3 (GFRA3), mRNA.							120.0	103.0	109.0					5																	137595283		2203	4300	6503	SO:0001583	missense	2676				peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding	g.chr5:137595283C>G	AY358997	CCDS4201.1	5q31.1-q31.3	2008-02-05			ENSG00000146013	ENSG00000146013			4245	protein-coding gene	gene with protein product		605710				9407096	Standard	NM_001496		Approved	GFRa-3	uc003lcn.3	O60609	OTTHUMG00000129200	ENST00000274721.3:c.435G>C	5.37:g.137595283C>G	ENSP00000274721:p.Trp145Cys					GFRA3_uc003lco.3_Intron	p.W145C	NM_001496	NP_001487	O60609	GFRA3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		2	575	-			145					B2RA36|B4DMY9|Q6UW20|Q8IUZ2	Missense_Mutation	SNP	ENST00000274721.3	37	c.435G>C	CCDS4201.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.243948	0.58995	.	.	ENSG00000146013	ENST00000274721	T	0.30981	1.51	5.16	5.16	0.70880	.	0.096640	0.50627	D	0.000114	T	0.39708	0.1088	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.16129	-1.0413	10	0.38643	T	0.18	-18.0174	14.5027	0.67732	0.0:1.0:0.0:0.0	.	145	O60609	GFRA3_HUMAN	C	145	ENSP00000274721:W145C	ENSP00000274721:W145C	W	-	3	0	GFRA3	137623182	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.958000	0.56737	2.581000	0.87130	0.561000	0.74099	TGG		0.557	GFRA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251277.1	NM_001496		14	74	0	0	0	1	0	14	74				
PTGR2	145482	broad.mit.edu	37	14	74340912	74340912	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr14:74340912G>A	ENST00000555661.1	+	4	488	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K	RP5-1021I20.4_ENST00000556551.2_Missense_Mutation_p.E115K|PTGR2_ENST00000553813.1_Intron|PTGR2_ENST00000267568.4_Missense_Mutation_p.E115K|PTGR2_ENST00000555228.1_Missense_Mutation_p.E115K			Q8N8N7	PTGR2_HUMAN	prostaglandin reductase 2	115					prostaglandin metabolic process (GO:0006693)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	13-prostaglandin reductase activity (GO:0036132)|15-oxoprostaglandin 13-oxidase activity (GO:0047522)			NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(2)	9					Indomethacin(DB00328)	AAATAGCCTTGAAAAGGTGAT	0.328																																					Esophageal Squamous(98;1155 1417 16452 47043 47872)	uc001xow.3																			0				NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(2)	9						c.(343-345)Gaa>Aaa		Homo sapiens prostaglandin reductase 2 (PTGR2), transcript variant 2, mRNA.							63.0	65.0	65.0					14																	74340912		2203	4300	6503	SO:0001583	missense	145482				prostaglandin metabolic process		15-oxoprostaglandin 13-oxidase activity|zinc ion binding	g.chr14:74340912G>A	AK096410	CCDS9820.1	14q24.1-q24.2	2008-06-04	2008-06-02	2008-06-03		ENSG00000140043			20149	protein-coding gene	gene with protein product		608642	"""zinc binding alcohol dehydrogenase domain containing 1"""	ZADH1		17449869	Standard	NM_152444		Approved	FLJ39091	uc001xow.3	Q8N8N7		ENST00000555661.1:c.343G>A	14.37:g.74340912G>A	ENSP00000452280:p.Glu115Lys					PTGR2_uc010tue.2_Missense_Mutation_p.E115K|PTGR2_uc001xox.3_Missense_Mutation_p.E115K|ZNF410_uc001xoy.2_Non-coding_Transcript	p.E115K	NM_001146154	NP_689657	Q8N8N7	PTGR2_HUMAN			3	503	+			115					Q3L8A4|Q6MZH8	Missense_Mutation	SNP	ENST00000555661.1	37	c.343G>A	CCDS9820.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.064908	0.36470	.	.	ENSG00000140043	ENST00000555228;ENST00000555661;ENST00000555976;ENST00000267568	T;T;T;T	0.43294	1.0;1.0;0.95;1.0	5.81	5.81	0.92471	GroES-like (1);	0.168811	0.52532	D	0.000062	T	0.35098	0.0920	L	0.35644	1.08	0.37343	D	0.910486	B	0.22480	0.07	B	0.21151	0.033	T	0.19647	-1.0299	10	0.29301	T	0.29	-10.824	15.4226	0.75025	0.0:0.2436:0.7564:0.0	.	115	Q8N8N7	PTGR2_HUMAN	K	115	ENSP00000450975:E115K;ENSP00000452280:E115K;ENSP00000450517:E115K;ENSP00000267568:E115K	ENSP00000267568:E115K	E	+	1	0	PTGR2	73410665	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	4.097000	0.57741	2.746000	0.94184	0.655000	0.94253	GAA		0.328	PTGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412575.1			9	77	0	0	0	1	0	9	77				
EEF1A2	1917	broad.mit.edu	37	20	62121972	62121972	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr20:62121972C>T	ENST00000298049.7	-	5	959	c.889G>A	c.(889-891)Gag>Aag	p.E297K	EEF1A2_ENST00000217182.3_Missense_Mutation_p.E297K			Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	297					positive regulation of apoptotic process (GO:0043065)|response to inorganic substance (GO:0010035)	eukaryotic translation elongation factor 1 complex (GO:0005853)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			CTCAGAGCCTCGTGGTGCATC	0.627																																						uc002yfe.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20						c.(889-891)Gag>Aag		Homo sapiens eukaryotic translation elongation factor 1 alpha 2 (EEF1A2), mRNA.							101.0	91.0	94.0					20																	62121972		2199	4294	6493	SO:0001583	missense	1917					nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr20:62121972C>T	AF163763	CCDS13522.1	20q13.3	2010-06-03			ENSG00000101210	ENSG00000101210			3192	protein-coding gene	gene with protein product		602959	"""statin-like"", ""statin"""	STNL, STN		8354261, 8812466	Standard	NM_001958		Approved	EEF1AL, HS1	uc002yfe.2	Q05639	OTTHUMG00000033076	ENST00000298049.7:c.889G>A	20.37:g.62121972C>T	ENSP00000298049:p.Glu297Lys						p.E297K	NM_001958	NP_001949	Q05639	EF1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.22e-05)		5	1055	-	all_cancers(38;9.45e-12)		297					B5BUF3|E1P5J1|P54266|Q0VGC7	Missense_Mutation	SNP	ENST00000298049.7	37	c.889G>A	CCDS13522.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.011074	0.93346	.	.	ENSG00000101210	ENST00000298049;ENST00000217182	T;T	0.64085	-0.08;-0.08	3.82	3.82	0.43975	Translation elongation factor EFTu/EF1A, domain 2 (1);Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.315843	0.32563	N	0.005931	T	0.75679	0.3882	L	0.60012	1.86	0.80722	D	1	D;D	0.89917	0.962;1.0	P;D	0.91635	0.893;0.999	T	0.79831	-0.1637	10	0.87932	D	0	-21.0665	16.0768	0.80974	0.0:1.0:0.0:0.0	.	273;297	Q59GP5;Q05639	.;EF1A2_HUMAN	K	297	ENSP00000298049:E297K;ENSP00000217182:E297K	ENSP00000217182:E297K	E	-	1	0	EEF1A2	61592416	1.000000	0.71417	0.986000	0.45419	0.832000	0.47134	7.626000	0.83164	1.847000	0.53656	0.556000	0.70494	GAG		0.627	EEF1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080495.1	NM_001958		23	91	0	0	0	1	0	23	91				
OR4C11	219429	broad.mit.edu	37	11	55371297	55371297	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr11:55371297G>T	ENST00000302231.4	-	1	577	c.553C>A	c.(553-555)Ctt>Att	p.L185I		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	185						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						ATGCAGGCAAGTTTCAACAAG	0.393																																						uc010rii.2																			0		p.L185L(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						c.(553-555)Ctt>Att		Homo sapiens olfactory receptor, family 4, subfamily C, member 11 (OR4C11), mRNA.							84.0	69.0	75.0					11																	55371297		2177	4012	6189	SO:0001583	missense	219429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55371297G>T	AB065774	CCDS31503.1	11q11	2012-08-09		2004-03-10	ENSG00000172188	ENSG00000172188		"""GPCR / Class A : Olfactory receptors"""	15167	protein-coding gene	gene with protein product				OR4C11P			Standard	NM_001004700		Approved		uc010rii.2	Q6IEV9	OTTHUMG00000165290	ENST00000302231.4:c.553C>A	11.37:g.55371297G>T	ENSP00000306651:p.Leu185Ile						p.L185I	NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN			0	578	-			185					B9EIL4|Q8NGL8	Missense_Mutation	SNP	ENST00000302231.4	37	c.553C>A	CCDS31503.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.213082	0.58452	.	.	ENSG00000172188	ENST00000302231	T	0.00379	7.65	4.34	1.41	0.22369	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39407	U	0.001377	T	0.00608	0.0020	M	0.67953	2.075	0.22226	N	0.999278	D	0.89917	1.0	D	0.91635	0.999	T	0.49542	-0.8929	10	0.87932	D	0	.	4.5219	0.11962	0.275:0.0:0.5663:0.1587	.	185	Q6IEV9	OR4CB_HUMAN	I	185	ENSP00000306651:L185I	ENSP00000306651:L185I	L	-	1	0	OR4C11	55127873	0.966000	0.33281	0.999000	0.59377	0.995000	0.86356	1.622000	0.36997	0.581000	0.29539	0.478000	0.44815	CTT		0.393	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383268.1	NM_001004700		18	77	0	0	0	1	0	18	77				
HSD3B7	80270	broad.mit.edu	37	16	30997755	30997755	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr16:30997755G>A	ENST00000297679.5	+	4	427	c.334G>A	c.(334-336)Gtg>Atg	p.V112M	HSD3B7_ENST00000262520.6_Missense_Mutation_p.V112M|HSD3B7_ENST00000353250.5_Missense_Mutation_p.V112M|AC135048.1_ENST00000602217.1_5'Flank	NM_025193.3	NP_079469.2	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	112					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity (GO:0047016)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						TACCCGGAACGTGATCGAGGC	0.577																																						uc002eaf.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(334-336)Gtg>Atg		Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 (HSD3B7), transcript variant 1, mRNA.							88.0	74.0	79.0					16																	30997755		2197	4300	6497	SO:0001583	missense	80270				bile acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity	g.chr16:30997755G>A	AF277719	CCDS10698.1, CCDS45466.1	16p11.2	2011-09-14			ENSG00000099377	ENSG00000099377	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	18324	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 3"""	607764				11067870, 19027726	Standard	NM_001142777		Approved	C(27)-3BETA-HSD, SDR11E3	uc002eaf.2	Q9H2F3	OTTHUMG00000132417	ENST00000297679.5:c.334G>A	16.37:g.30997755G>A	ENSP00000297679:p.Val112Met					HSD3B7_uc010cac.2_Missense_Mutation_p.V112M|HSD3B7_uc002eag.2_Missense_Mutation_p.V112M|HSD3B7_uc002eah.2_Missense_Mutation_p.V112M	p.V112M	NM_025193	NP_079469	Q9H2F3	3BHS7_HUMAN			3	440	+			112					Q96M28|Q9BSN9	Missense_Mutation	SNP	ENST00000297679.5	37	c.334G>A	CCDS10698.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.438738	0.83885	.	.	ENSG00000099377	ENST00000262520;ENST00000353250;ENST00000297679	D;D;D	0.90133	-2.62;-2.62;-2.32	5.15	4.19	0.49359	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.122583	0.56097	D	0.000031	D	0.95987	0.8693	M	0.92833	3.35	0.48830	D	0.999714	D;D	0.89917	0.999;1.0	D;D	0.87578	0.969;0.998	D	0.96230	0.9167	10	0.72032	D	0.01	-20.882	12.2278	0.54470	0.0835:0.0:0.9165:0.0	.	112;112	Q96M28;Q9H2F3	.;3BHS7_HUMAN	M	112	ENSP00000262520:V112M;ENSP00000370662:V112M;ENSP00000297679:V112M	ENSP00000262520:V112M	V	+	1	0	HSD3B7	30905256	1.000000	0.71417	0.864000	0.33941	0.747000	0.42532	5.738000	0.68613	1.172000	0.42781	0.561000	0.74099	GTG		0.577	HSD3B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255554.2			10	30	0	0	0	1	0	10	30				
STK31	56164	broad.mit.edu	37	7	23775294	23775294	+	Silent	SNP	A	A	T			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr7:23775294A>T	ENST00000355870.3	+	7	740	c.621A>T	c.(619-621)ggA>ggT	p.G207G	STK31_ENST00000405627.3_3'UTR|STK31_ENST00000354639.3_Silent_p.G184G|STK31_ENST00000428484.1_Silent_p.G184G|STK31_ENST00000433467.2_Silent_p.G207G	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	207						acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTAAGAAAGGATTTGCAGAGA	0.413																																						uc003sws.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(619-621)ggA>ggT		Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.							138.0	128.0	131.0					7																	23775294		2203	4300	6503	SO:0001819	synonymous_variant	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23775294A>T	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.621A>T	7.37:g.23775294A>T						STK31_uc003swt.4_Silent_p.G184G|STK31_uc011jze.2_Silent_p.G207G|STK31_uc010kuq.3_Silent_p.G184G	p.G207G	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN			6	688	+			207					B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Silent	SNP	ENST00000355870.3	37	c.621A>T	CCDS5386.1																																																																																				0.413	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		27	71	0	0	0	1	0	27	71				
TBX3	6926	broad.mit.edu	37	12	115120663	115120663	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr12:115120663G>A	ENST00000257566.3	-	1	732	c.343C>T	c.(343-345)Cag>Tag	p.Q115*	TBX3_ENST00000349155.2_Nonsense_Mutation_p.Q115*	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	115					anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		TTGTGAAACTGATCCCAAAGT	0.572																																						uc001tvt.1																			0				breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(343-345)Cag>Tag		Homo sapiens T-box 3 (TBX3), transcript variant 2, mRNA.							52.0	54.0	54.0					12																	115120663		2202	4300	6502	SO:0001587	stop_gained	6926				anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding	g.chr12:115120663G>A	BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"""T-boxes"""	11602	protein-coding gene	gene with protein product		601621	"""ulnar mammary syndrome"""	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.343C>T	12.37:g.115120663G>A	ENSP00000257566:p.Gln115*					TBX3_uc001tvu.1_Nonsense_Mutation_p.Q115*|TBX3_uc010syw.1_Nonsense_Mutation_p.Q115*	p.Q115*	NM_016569	NP_057653	O15119	TBX3_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0574)	0	1307	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		115					Q8TB20|Q9UKF8	Nonsense_Mutation	SNP	ENST00000257566.3	37	c.343C>T	CCDS9176.1	.	.	.	.	.	.	.	.	.	.	G	47	13.060166	0.99716	.	.	ENSG00000135111	ENST00000349155;ENST00000257566;ENST00000361100	.	.	.	5.48	5.48	0.80851	.	0.056069	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	19.3471	0.94367	0.0:0.0:1.0:0.0	.	.	.	.	X	115	.	ENSP00000257566:Q115X	Q	-	1	0	TBX3	113605046	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.566000	0.86566	0.655000	0.94253	CAG		0.572	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404947.2	NM_016569, NM_005996		7	64	0	0	0	1	0	7	64				
PRKDC	5591	broad.mit.edu	37	8	48798637	48798638	+	Missense_Mutation	DNP	GC	GC	AA			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr8:48798637_48798638GC>AA	ENST00000314191.2	-	37	4696_4697	c.4640_4641GC>TT	c.(4639-4641)gGC>gTT	p.G1547V	PRKDC_ENST00000338368.3_Missense_Mutation_p.G1547V|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1548					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	GGATGACGCTGCCCTGTGAGCT	0.495								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	uc003xqi.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(4639-4641)ggc>gTT	Non-homologous end-joining	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.																																				SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48798637_48798638GC>AA		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.4640_4641delinsAA	8.37:g.48798637_48798638delinsAA	ENSP00000313420:p.Gly1547Val					PRKDC_uc003xqj.3_Missense_Mutation_p.G1547V	p.G1547V	NM_006904	NP_008835	P78527	PRKDC_HUMAN			36	4697_4698	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	1548					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	DNP	ENST00000314191.2	37	c.4640_4641GC>TT																																																																																					0.495	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		14	41	0	0	0	1	0	14	41				
FBN1	2200	broad.mit.edu	37	15	48802244	48802244	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr15:48802244C>T	ENST00000316623.5	-	14	2166	c.1711G>A	c.(1711-1713)Gaa>Aaa	p.E571K		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	571	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTATTACCTTCACAGTTCTTC	0.408																																						uc001zwx.2																			0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139	GRCh37	CM020134	FBN1	M		c.(1711-1713)Gaa>Aaa		Homo sapiens fibrillin 1 (FBN1), mRNA.							94.0	88.0	90.0					15																	48802244		2197	4296	6493	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48802244C>T	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.1711G>A	15.37:g.48802244C>T	ENSP00000325527:p.Glu571Lys						p.E571K	NM_000138	NP_000129	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	13	2106	-		all_lung(180;0.00279)	571			EGF-like 8; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.1711G>A	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.473723	0.63737	.	.	ENSG00000166147	ENST00000316623	D	0.87650	-2.28	5.5	5.5	0.81552	EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.052000	0.85682	D	0.000000	D	0.86226	0.5882	L	0.60957	1.885	0.80722	D	1	B	0.22003	0.063	B	0.22386	0.039	T	0.82446	-0.0453	10	0.49607	T	0.09	.	18.3167	0.90224	0.0:1.0:0.0:0.0	.	571	P35555	FBN1_HUMAN	K	571	ENSP00000325527:E571K	ENSP00000325527:E571K	E	-	1	0	FBN1	46589536	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.586000	0.46119	2.736000	0.93811	0.591000	0.81541	GAA		0.408	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			6	56	0	0	0	1	0	6	56				
CUL9	23113	broad.mit.edu	37	6	43173160	43173160	+	Splice_Site	SNP	C	C	T	rs148718257	byFrequency	TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr6:43173160C>T	ENST00000252050.4	+	24	4876	c.4792C>T	c.(4792-4794)Cag>Tag	p.Q1598*	CUL9_ENST00000372647.2_Splice_Site_p.Q1598*|CUL9_ENST00000354495.3_Splice_Site_p.Q1488*	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1598					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GCACTTCTATCAGTGAGTGCA	0.517																																						uc003ouk.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						c.e24+1		Homo sapiens cullin 9 (CUL9), mRNA.							118.0	122.0	120.0					6																	43173160		2203	4300	6503	SO:0001630	splice_region_variant	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43173160C>T	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.4793+1C>T	6.37:g.43173160C>T						CUL9_uc003oul.3_Splice_Site_p.Q1598_splice|CUL9_uc010jyk.3_Splice_Site_p.Q750_splice	p.Q1598_splice	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN			24	4868	+			1598					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Splice_Site	SNP	ENST00000252050.4	37	c.4793_splice	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	C	43	10.450940	0.99407	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	.	.	.	5.64	5.64	0.86602	.	0.224693	0.43747	D	0.000531	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-22.1622	13.7755	0.63050	0.2702:0.7297:0.0:0.0	.	.	.	.	X	1598;1488;1598	.	ENSP00000252050:Q1598X	Q	+	1	0	CUL9	43281138	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.761000	0.47589	2.655000	0.90218	0.561000	0.74099	CAG		0.517	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089	Nonsense_Mutation	14	141	0	0	0	1	0	14	141				
SPATA5L1	79029	broad.mit.edu	37	15	45695663	45695663	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr15:45695663C>T	ENST00000305560.6	+	1	1135	c.1036C>T	c.(1036-1038)Cgg>Tgg	p.R346W	SPATA5L1_ENST00000559860.1_Missense_Mutation_p.R346W|GATM_ENST00000458245.5_5'Flank	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	346						cytoplasm (GO:0005737)	ATP binding (GO:0005524)			kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		AGCCACTAACCGGCCGGACGC	0.682																																						uc001zve.3																			0				kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1036-1038)Cgg>Tgg		Homo sapiens spermatogenesis associated 5-like 1 (SPATA5L1), transcript variant 1, mRNA.							28.0	34.0	32.0					15																	45695663		2170	4254	6424	SO:0001583	missense	79029					cytoplasm	ATP binding|nucleoside-triphosphatase activity	g.chr15:45695663C>T	AK023232	CCDS10123.1	15q15.1	2010-04-21			ENSG00000171763	ENSG00000171763		"""ATPases / AAA-type"""	28762	protein-coding gene	gene with protein product						12477932	Standard	NM_024063		Approved	MGC5347, FLJ12286	uc001zve.3	Q9BVQ7	OTTHUMG00000131425	ENST00000305560.6:c.1036C>T	15.37:g.45695663C>T	ENSP00000305494:p.Arg346Trp					BC039389_uc001zvd.3_5'Flank|SPATA5L1_uc001zvf.3_Non-coding_Transcript	p.R346W	NM_024063	NP_076968	Q9BVQ7	SPA5L_HUMAN		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)	0	1145	+		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)	346					C9JHR5|Q9H8W7|Q9HA41	Missense_Mutation	SNP	ENST00000305560.6	37	c.1036C>T	CCDS10123.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.464220	0.63513	.	.	ENSG00000171763	ENST00000305560	D	0.94457	-3.43	4.81	1.7	0.24286	ATPase, AAA-type, conserved site (1);ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.066071	0.64402	D	0.000015	D	0.98108	0.9376	H	0.98238	4.18	0.36312	D	0.857738	D	0.89917	1.0	D	0.80764	0.994	D	0.99926	1.1283	10	0.87932	D	0	-25.4088	13.3947	0.60843	0.7076:0.2924:0.0:0.0	.	346	Q9BVQ7	SPA5L_HUMAN	W	346	ENSP00000305494:R346W	ENSP00000305494:R346W	R	+	1	2	SPATA5L1	43482955	0.997000	0.39634	0.998000	0.56505	0.709000	0.40893	1.484000	0.35508	0.165000	0.19558	-0.284000	0.09977	CGG		0.682	SPATA5L1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254218.1	NM_024063		3	66	0	0	0	1	0	3	66				
HIVEP1	3096	broad.mit.edu	37	6	12161971	12161971	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr6:12161971G>A	ENST00000379388.2	+	8	7119	c.6787G>A	c.(6787-6789)Gca>Aca	p.A2263T	HIVEP1_ENST00000541134.1_Missense_Mutation_p.A128T	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2263					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CCTGAGCACAGCACAGTCTGA	0.552																																						uc003nac.3																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90						c.(6787-6789)Gca>Aca		Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.							86.0	89.0	88.0					6																	12161971		2140	4259	6399	SO:0001583	missense	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12161971G>A	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.6787G>A	6.37:g.12161971G>A	ENSP00000368698:p.Ala2263Thr					HIVEP1_uc011diq.2_Non-coding_Transcript	p.A2263T	NM_002114	NP_002105	P15822	ZEP1_HUMAN			7	6966	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	2263					B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	c.6787G>A	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	G	8.134	0.783834	0.16189	.	.	ENSG00000095951	ENST00000379388;ENST00000442081;ENST00000541134;ENST00000542327	T;T	0.30448	3.04;1.53	5.77	0.94	0.19513	.	0.846246	0.09627	N	0.776749	T	0.06462	0.0166	L	0.34521	1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43718	-0.9374	10	0.13853	T	0.58	-1.0332	6.5588	0.22476	0.2953:0.2095:0.4953:0.0	.	2263	P15822	ZEP1_HUMAN	T	2263;190;128;245	ENSP00000368698:A2263T;ENSP00000445617:A128T	ENSP00000368698:A2263T	A	+	1	0	HIVEP1	12269957	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.061000	0.14366	-0.115000	0.11915	-0.137000	0.14449	GCA		0.552	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		3	70	0	0	0	1	0	3	70				
WDR76	79968	broad.mit.edu	37	15	44120432	44120432	+	Silent	SNP	A	A	G			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr15:44120432A>G	ENST00000263795.6	+	2	400	c.330A>G	c.(328-330)caA>caG	p.Q110Q	WDR76_ENST00000381246.2_Silent_p.Q46Q	NM_001167941.1|NM_024908.3	NP_001161413.1|NP_079184.2	Q9H967	WDR76_HUMAN	WD repeat domain 76	110										breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		CCACGCTGCAAAATTCATCCT	0.408																																						uc001zti.2																			0				breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20						c.(328-330)caA>caG		Homo sapiens WD repeat domain 76 (WDR76), transcript variant 1, mRNA.							88.0	87.0	87.0					15																	44120432		2198	4298	6496	SO:0001819	synonymous_variant	79968							g.chr15:44120432A>G	AK023035	CCDS10106.1, CCDS53938.1	15q15.3	2013-01-09			ENSG00000092470	ENSG00000092470		"""WD repeat domain containing"""	25773	protein-coding gene	gene with protein product						12860291	Standard	NM_024908		Approved	FLJ12973	uc001zti.2	Q9H967	OTTHUMG00000060143	ENST00000263795.6:c.330A>G	15.37:g.44120432A>G						WDR76_uc021skg.1_Silent_p.Q46Q	p.Q110Q	NM_024908	NP_001161413	Q9H967	WDR76_HUMAN		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)	1	449	+		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)	110					A0MNP5|Q05CI4	Silent	SNP	ENST00000263795.6	37	c.330A>G	CCDS10106.1																																																																																				0.408	WDR76-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133482.2	NM_024908		24	69	0	0	0	1	0	24	69				
DUSP5	1847	broad.mit.edu	37	10	112262508	112262508	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr10:112262508C>G	ENST00000369583.3	+	2	693	c.409C>G	c.(409-411)Cct>Gct	p.P137A	DUSP5_ENST00000468749.1_3'UTR	NM_004419.3	NP_004410.3	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	137	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				endoderm formation (GO:0001706)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		CTCGGAATATCCTGAGTGTTG	0.423																																						uc001kzd.3																			0				kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13						c.(409-411)Cct>Gct		Homo sapiens dual specificity phosphatase 5 (DUSP5), mRNA.							122.0	117.0	119.0					10																	112262508		2203	4300	6503	SO:0001583	missense	1847				endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr10:112262508C>G	U16996	CCDS7566.1	10q25	2011-06-09			ENSG00000138166	ENSG00000138166		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3071	protein-coding gene	gene with protein product		603069				7806236	Standard	NM_004419		Approved	HVH3	uc001kzd.3	Q16690	OTTHUMG00000019040	ENST00000369583.3:c.409C>G	10.37:g.112262508C>G	ENSP00000358596:p.Pro137Ala						p.P137A	NM_004419	NP_004410	Q16690	DUS5_HUMAN		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)	1	664	+		Breast(234;0.0848)	137			Rhodanese.		Q12997|Q5T603	Missense_Mutation	SNP	ENST00000369583.3	37	c.409C>G	CCDS7566.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.227502	0.79576	.	.	ENSG00000138166	ENST00000369583	T	0.47869	0.83	6.02	6.02	0.97574	Rhodanese-like (4);	0.000000	0.85682	D	0.000000	T	0.69369	0.3103	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.68326	-0.5438	10	0.59425	D	0.04	.	19.5352	0.95251	0.0:1.0:0.0:0.0	.	137	Q16690	DUS5_HUMAN	A	137	ENSP00000358596:P137A	ENSP00000358596:P137A	P	+	1	0	DUSP5	112252498	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	5.625000	0.67770	2.850000	0.98022	0.650000	0.86243	CCT		0.423	DUSP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050333.1	NM_004419		17	74	0	0	0	1	0	17	74				
HYPK	25764	broad.mit.edu	37	15	44093955	44093955	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr15:44093955G>A	ENST00000406925.1	+	5	4452	c.341G>A	c.(340-342)cGg>cAg	p.R114Q	SERF2_ENST00000594896.1_Missense_Mutation_p.R160Q|SERINC4_ENST00000249714.3_5'Flank|SERINC4_ENST00000299969.6_5'Flank|HYPK_ENST00000458412.1_3'UTR|SERF2_ENST00000600633.1_Missense_Mutation_p.R114Q|HYPK_ENST00000442995.2_Missense_Mutation_p.R114Q|SERINC4_ENST00000319327.6_5'Flank|RP11-296A16.1_ENST00000417761.2_5'Flank			Q9NX55	HYPK_HUMAN	huntingtin interacting protein K	114						cytoplasm (GO:0005737)|nucleus (GO:0005634)							all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		GBM - Glioblastoma multiforme(94;8.1e-07)		CGCAGTTTGCGGGAACACATG	0.428																																						uc001ztb.3																			0				endometrium(1)|large_intestine(1)|ovary(1)	3						c.(478-480)cGg>cAg		Homo sapiens chromosome 15 open reading frame 63 (C15orf63), transcript variant 1, mRNA.							96.0	90.0	92.0					15																	44093955		2198	4298	6496	SO:0001583	missense	25764							g.chr15:44093955G>A	AF049613	CCDS10104.1	15q14	2012-10-08	2012-10-08	2012-10-08	ENSG00000242028	ENSG00000242028			18418	protein-coding gene	gene with protein product	"""Huntingtin yeast partner K"""	612784	"""chromosome 15 open reading frame 63"""	C15orf63		9700202, 20154145	Standard	NM_016400		Approved	HSPC136, FLJ20431	uc001ztf.3	Q9NX55	OTTHUMG00000060146	ENST00000406925.1:c.341G>A	15.37:g.44093955G>A	ENSP00000384474:p.Arg114Gln					ELL3_uc001zsx.1_5'Flank|SERINC4_uc001ztc.1_5'Flank|SERINC4_uc010bds.1_5'Flank|SERINC4_uc001zte.1_5'Flank|C15orf63_uc001ztf.3_Missense_Mutation_p.R114Q|C15orf63_uc021skf.1_3'UTR|C15orf63_uc001ztg.1_3'UTR	p.R160Q	NM_016400	NP_057484	Q9NX55	HYPK_HUMAN			5	962	+			114					C9JKJ0|O75408|Q8WUW8|Q9P024	Missense_Mutation	SNP	ENST00000406925.1	37	c.479G>A	CCDS10104.1	.	.	.	.	.	.	.	.	.	.	G	36	5.618073	0.96649	.	.	ENSG00000242028	ENST00000406925;ENST00000442995	T;T	0.60548	0.18;0.18	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.64918	0.2642	M	0.76170	2.325	0.80722	D	1	D	0.62365	0.991	P	0.45753	0.492	T	0.69591	-0.5104	10	0.51188	T	0.08	-16.0543	19.2408	0.93881	0.0:0.0:1.0:0.0	.	114	Q9NX55	HYPK_HUMAN	Q	114	ENSP00000384474:R114Q;ENSP00000401155:R114Q	ENSP00000384474:R114Q	R	+	2	0	C15orf63	41881247	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.601000	0.98297	2.785000	0.95823	0.655000	0.94253	CGG		0.428	HYPK-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133876.3	NM_016400		11	61	0	0	0	1	0	11	61				
CTSS	1520	broad.mit.edu	37	1	150727538	150727538	+	Missense_Mutation	SNP	C	C	T	rs140031053		TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr1:150727538C>T	ENST00000368985.3	-	4	598	c.338G>A	c.(337-339)cGg>cAg	p.R113Q	CTSS_ENST00000448301.2_Intron|CTSS_ENST00000480760.1_5'UTR	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S	113			R -> W (in dbSNP:rs2230061). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.5}.		adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|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-independent (GO:0002480)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|basement membrane disassembly (GO:0034769)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of inflammatory response (GO:0050729)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane (GO:0016020)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)	p.R113L(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			AGGCAATATCCGATTAGGGTT	0.433													c|||	1	0.000199681	0.0	0.0	5008	,	,		20302	0.001		0.0	False		,,,				2504	0.0					uc001evn.3																			1	Substitution - Missense(1)	p.R113L(2)|p.R113W(1)	lung(1)	cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15						c.(337-339)cGg>cAg		Homo sapiens cathepsin S (CTSS), transcript variant 1, mRNA.							215.0	207.0	210.0					1																	150727538		2203	4300	6503	SO:0001583	missense	1520				immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity	g.chr1:150727538C>T	M90696	CCDS968.1, CCDS55634.1	1q21	2008-02-05			ENSG00000163131	ENSG00000163131	3.4.22.27	"""Cathepsins"""	2545	protein-coding gene	gene with protein product		116845				1373132	Standard	NM_001199739		Approved		uc001evn.3	P25774	OTTHUMG00000035010	ENST00000368985.3:c.338G>A	1.37:g.150727538C>T	ENSP00000357981:p.Arg113Gln					CTSS_uc010pcj.2_Intron	p.R113Q	NM_004079	NP_004070	P25774	CATS_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)		3	599	-	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		113		R -> W (in dbSNP:rs2230061).			B4DWC9|D3DV05|Q5T5I0|Q6FHS5|Q9BUG3	Missense_Mutation	SNP	ENST00000368985.3	37	c.338G>A	CCDS968.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	c	0.729	-0.780487	0.02929	.	.	ENSG00000163131	ENST00000368985	T	0.21361	2.01	5.47	1.56	0.23342	.	3.731250	0.00357	N	0.000022	T	0.02571	0.0078	N	0.03194	-0.395	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30179	-0.9987	10	0.25106	T	0.35	.	4.81	0.13339	0.1378:0.2007:0.0:0.6615	.	113	P25774	CATS_HUMAN	Q	113	ENSP00000357981:R113Q	ENSP00000357981:R113Q	R	-	2	0	CTSS	148994162	0.002000	0.14202	0.009000	0.14445	0.233000	0.25261	0.169000	0.16641	0.016000	0.14998	-1.158000	0.01797	CGG		0.433	CTSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084737.1	NM_004079		20	215	0	0	0	1	0	20	215				
STAM2	10254	broad.mit.edu	37	2	153003678	153003678	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr2:153003678G>C	ENST00000263904.4	-	5	794	c.445C>G	c.(445-447)Cag>Gag	p.Q149E	STAM2_ENST00000465460.1_5'UTR	NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2	149					endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		TCTCTCACCTGAGAACCTGCT	0.363																																						uc002tyc.4																			0				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16						c.(445-447)Cag>Gag		Homo sapiens signal transducing adaptor molecule (SH3 domain and ITAM motif) 2 (STAM2), mRNA.							102.0	107.0	105.0					2																	153003678		2203	4300	6503	SO:0001583	missense	10254				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding	g.chr2:153003678G>C	AF042274	CCDS2196.1	2q23.3	2009-04-29			ENSG00000115145	ENSG00000115145			11358	protein-coding gene	gene with protein product	"""HSE1 homolog (S. cerevisiae)"""	606244				10899310, 10993906	Standard	NM_005843		Approved	Hbp	uc002tyc.4	O75886	OTTHUMG00000131885	ENST00000263904.4:c.445C>G	2.37:g.153003678G>C	ENSP00000263904:p.Gln149Glu					STAM2_uc010foa.1_Missense_Mutation_p.Q149E|STAM2_uc002tyd.3_Missense_Mutation_p.Q149E	p.Q149E	NM_005843	NP_005834	O75886	STAM2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.22)	4	795	-			149					A8K8A0|D3DPA1|Q7LDQ0|Q9UF58	Missense_Mutation	SNP	ENST00000263904.4	37	c.445C>G	CCDS2196.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.572784	0.86542	.	.	ENSG00000115145	ENST00000263904	T	0.16897	2.31	5.42	5.42	0.78866	Src homology-3 domain (1);	1.362050	0.04956	N	0.461277	T	0.23766	0.0575	L	0.49513	1.565	0.80722	D	1	B;B	0.29085	0.152;0.232	B;B	0.32289	0.143;0.042	T	0.48779	-0.9005	10	0.07175	T	0.84	-7.9109	19.2062	0.93730	0.0:0.0:1.0:0.0	.	149;149	O75886-2;O75886	.;STAM2_HUMAN	E	149	ENSP00000263904:Q149E	ENSP00000263904:Q149E	Q	-	1	0	STAM2	152711924	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	9.813000	0.99286	2.533000	0.85409	0.655000	0.94253	CAG		0.363	STAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254835.2	NM_005843		8	122	0	0	0	1	0	8	122				
SECISBP2L	9728	broad.mit.edu	37	15	49320810	49320810	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr15:49320810C>T	ENST00000559471.1	-	5	997	c.734G>A	c.(733-735)gGc>gAc	p.G245D	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.G245D	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	245							poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						TCTTCTCCTGCCCTTGGACTT	0.473																																						uc001zxe.2																			0				breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						c.(733-735)gGc>gAc		Homo sapiens SECIS binding protein 2-like (SECISBP2L), transcript variant 1, mRNA.							140.0	130.0	134.0					15																	49320810		2197	4295	6492	SO:0001583	missense	9728							g.chr15:49320810C>T	BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.734G>A	15.37:g.49320810C>T	ENSP00000453854:p.Gly245Asp					SECISBP2L_uc001zxd.2_Missense_Mutation_p.G245D|SECISBP2L_uc010bep.2_Missense_Mutation_p.G7D|SECISBP2L_uc010beq.2_Intron	p.G245D	NM_001193489	NP_001180418	Q93073	SBP2L_HUMAN			4	998	-			245					Q8N767	Missense_Mutation	SNP	ENST00000559471.1	37	c.734G>A	CCDS53942.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.644288	0.67244	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	D	0.89123	-2.47	5.78	5.78	0.91487	.	0.278962	0.41500	D	0.000865	D	0.82728	0.5100	L	0.27053	0.805	0.32517	N	0.536809	P;P	0.50272	0.933;0.763	P;B	0.44860	0.462;0.361	D	0.83615	0.0136	10	0.25751	T	0.34	.	11.3197	0.49415	0.1412:0.7226:0.1362:0.0	.	245;245	Q93073;Q93073-2	SBP2L_HUMAN;.	D	245	ENSP00000261847:G245D	ENSP00000261847:G245D	G	-	2	0	SECISBP2L	47108102	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	2.838000	0.48199	2.732000	0.93576	0.655000	0.94253	GGC		0.473	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	NM_014701		7	93	0	0	0	1	0	7	93				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	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)	uc003vwc.4	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(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(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		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	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	NP_004324	P15056	BRAF_HUMAN			14	1860	-	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		10	57	0	0	0	1	0	10	57				
PHRF1	57661	broad.mit.edu	37	11	587445	587445	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr11:587445G>A	ENST00000264555.5	+	4	529	c.401G>A	c.(400-402)tGc>tAc	p.C134Y	PHRF1_ENST00000413872.2_Missense_Mutation_p.C133Y|PHRF1_ENST00000533464.1_Missense_Mutation_p.C130Y|PHRF1_ENST00000416188.2_Missense_Mutation_p.C134Y	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	134					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						TGCCTGGACTGCATTGTCGAA	0.557																																						uc001lqe.3																			0				breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						c.(400-402)tGc>tAc		Homo sapiens PHD and ring finger domains 1 (PHRF1), mRNA.							120.0	125.0	124.0					11																	587445		2112	4203	6315	SO:0001583	missense	57661						RNA polymerase binding|zinc ion binding	g.chr11:587445G>A	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.401G>A	11.37:g.587445G>A	ENSP00000264555:p.Cys134Tyr					PHRF1_uc010qwc.2_Missense_Mutation_p.C134Y|PHRF1_uc010qwd.2_Missense_Mutation_p.C133Y|PHRF1_uc010qwe.2_Missense_Mutation_p.C130Y	p.C134Y	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN			3	532	+			134					A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	ENST00000264555.5	37	c.401G>A		.	.	.	.	.	.	.	.	.	.	G	19.60	3.858705	0.71834	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	D;D;D;D	0.99701	-6.45;-6.45;-6.45;-6.45	4.08	4.08	0.47627	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type, conserved site (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.429595	0.17475	N	0.172927	D	0.99840	0.9927	H	0.97783	4.075	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.999;1.0	D	0.96881	0.9646	10	0.87932	D	0	-21.3491	15.206	0.73180	0.0:0.0:1.0:0.0	.	130;133;134;134	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	Y	134;133;134;130	ENSP00000264555:C134Y;ENSP00000388589:C133Y;ENSP00000410626:C134Y;ENSP00000431870:C130Y	ENSP00000264555:C134Y	C	+	2	0	PHRF1	577445	1.000000	0.71417	0.998000	0.56505	0.726000	0.41606	9.168000	0.94781	2.100000	0.63781	0.561000	0.74099	TGC		0.557	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		4	89	0	0	0	1	0	4	89				
SGK223	157285	broad.mit.edu	37	8	8185788	8185788	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr8:8185788G>A	ENST00000520004.1	-	5	2768	c.2504C>T	c.(2503-2505)tCc>tTc	p.S835F	SGK223_ENST00000330777.4_Missense_Mutation_p.S835F			Q86YV5	SG223_HUMAN		837							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										GGGCTTGGGGGAGCCTTGGGT	0.607																																					GBM(34;731 755 10259 33573 33867)	uc003wsh.4																			0											c.(2503-2505)tCc>tTc		Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.							107.0	117.0	114.0					8																	8185788		1959	4130	6089	SO:0001583	missense	157285						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8185788G>A																												ENST00000520004.1:c.2504C>T	8.37:g.8185788G>A	ENSP00000428054:p.Ser835Phe						p.S835F	NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN			3	2504	-			835					Q8N3N5	Missense_Mutation	SNP	ENST00000520004.1	37	c.2504C>T	CCDS43706.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.095612	0.56075	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.60171	0.21;0.21	4.97	4.09	0.47781	.	0.202773	0.35207	N	0.003368	T	0.50820	0.1638	L	0.56769	1.78	0.26495	N	0.974867	P	0.46395	0.877	B	0.41723	0.365	T	0.54483	-0.8287	10	0.72032	D	0.01	.	7.0606	0.25123	0.0919:0.3407:0.5674:0.0	.	835	Q86YV5	SG223_HUMAN	F	835	ENSP00000330930:S835F;ENSP00000428054:S835F	ENSP00000330930:S835F	S	-	2	0	AC068353.1	8223198	.	.	0.996000	0.52242	0.948000	0.59901	.	.	1.440000	0.47531	0.563000	0.77884	TCC		0.607	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			35	132	0	0	0	1	0	35	132				
KIF21A	55605	broad.mit.edu	37	12	39716485	39716485	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr12:39716485G>A	ENST00000361418.5	-	27	3671	c.3656C>T	c.(3655-3657)tCt>tTt	p.S1219F	KIF21A_ENST00000547745.1_5'Flank|KIF21A_ENST00000541463.2_Missense_Mutation_p.S1183F|KIF21A_ENST00000544797.2_Missense_Mutation_p.S1199F|KIF21A_ENST00000395670.3_Missense_Mutation_p.S1219F|KIF21A_ENST00000361961.3_Missense_Mutation_p.S1206F			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1219					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				GCCTATCTTAGAAGGTAAGCC	0.403																																						uc001rly.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86						c.(3655-3657)tCt>tTt		Homo sapiens kinesin family member 21A (KIF21A), transcript variant 1, mRNA.							113.0	104.0	107.0					12																	39716485		2203	4300	6503	SO:0001583	missense	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39716485G>A	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.3656C>T	12.37:g.39716485G>A	ENSP00000354878:p.Ser1219Phe					KIF21A_uc001rlv.3_Missense_Mutation_p.S224F|KIF21A_uc001rlw.3_Missense_Mutation_p.S536F|KIF21A_uc001rlx.3_Missense_Mutation_p.S1206F|KIF21A_uc001rlz.3_Missense_Mutation_p.S1183F|KIF21A_uc010skl.2_Missense_Mutation_p.S1199F	p.S1219F	NM_001173464	NP_001166935	Q7Z4S6	KI21A_HUMAN			26	4076	-		Lung NSC(34;0.179)|all_lung(34;0.213)	1219					A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	c.3656C>T	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.396889	0.83120	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000545778;ENST00000551264;ENST00000544797;ENST00000361418;ENST00000541463	T;T;T;T;T;T	0.71461	-0.53;-0.52;0.27;-0.57;-0.43;-0.53	5.09	5.09	0.68999	.	0.245855	0.28977	N	0.013525	T	0.81230	0.4779	M	0.65498	2.005	0.58432	D	0.999998	P;P;P;P;P;D	0.55385	0.892;0.514;0.773;0.892;0.928;0.971	P;B;P;P;P;P	0.58660	0.598;0.33;0.466;0.518;0.698;0.843	T	0.83304	-0.0026	10	0.66056	D	0.02	.	18.5275	0.90978	0.0:0.0:1.0:0.0	.	1199;1183;1219;1206;1219;266	F5H219;F5H0C3;Q7Z4S6;Q7Z4S6-2;Q7Z4S6-3;F5H0V8	.;.;KI21A_HUMAN;.;.;.	F	1206;1219;1219;266;260;1199;1219;1183	ENSP00000354851:S1206F;ENSP00000379029:S1219F;ENSP00000448792:S260F;ENSP00000445606:S1199F;ENSP00000354878:S1219F;ENSP00000438075:S1183F	ENSP00000344501:S1219F	S	-	2	0	KIF21A	38002752	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.318000	0.79029	2.358000	0.79984	0.655000	0.94253	TCT		0.403	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		8	84	0	0	0	1	0	8	84				
WDR45B	56270	broad.mit.edu	37	17	80583323	80583323	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr17:80583323G>C	ENST00000392325.4	-	5	563	c.369C>G	c.(367-369)ttC>ttG	p.F123L	WDR45B_ENST00000571835.1_5'UTR	NM_019613.3	NP_062559.2	Q5MNZ6	WIPI3_HUMAN	WD repeat domain 45B	123																	GTGTGAATGTGAACACCTTAA	0.453																																						uc002kfq.3																			0				breast(2)|central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	12						c.(367-369)ttC>ttG		Homo sapiens WDR45-like (WDR45L), mRNA.							147.0	122.0	130.0					17																	80583323		2203	4300	6503	SO:0001583	missense	56270				autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding	g.chr17:80583323G>C	AF091083	CCDS11815.2	17q25.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000141580	ENSG00000141580		"""WD repeat domain containing"""	25072	protein-coding gene	gene with protein product		609226	"""WDR45-like"""	WDR45L		12477932	Standard	NM_019613		Approved	WIPI3	uc002kfq.3	Q5MNZ6	OTTHUMG00000150146	ENST00000392325.4:c.369C>G	17.37:g.80583323G>C	ENSP00000376139:p.Phe123Leu					WDR45L_uc002kfr.3_Non-coding_Transcript	p.F123L	NM_019613	NP_062559	Q5MNZ6	WIPI3_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.0835)		4	564	-	Breast(20;0.00106)|all_neural(118;0.0952)	all_cancers(8;0.101)|all_epithelial(8;0.198)	123					O95328|Q2MCP6|Q6IBN2	Missense_Mutation	SNP	ENST00000392325.4	37	c.369C>G	CCDS11815.2	.	.	.	.	.	.	.	.	.	.	-	20.4	3.991563	0.74703	.	.	ENSG00000141580	ENST00000392325;ENST00000539012	T	0.54675	0.56	4.54	2.39	0.29439	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.047892	0.85682	D	0.000000	T	0.47764	0.1463	M	0.79123	2.44	0.80722	D	1	P	0.36990	0.577	B	0.32864	0.154	T	0.52472	-0.8571	10	0.87932	D	0	-41.662	7.3009	0.26420	0.2699:0.0:0.7301:0.0	.	123	Q5MNZ6	WIPI3_HUMAN	L	123;95	ENSP00000376139:F123L	ENSP00000376139:F123L	F	-	3	2	WDR45L	78176612	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	0.659000	0.24994	0.878000	0.35920	0.552000	0.68991	TTC		0.453	WDR45B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316536.1	NM_019613		6	62	0	0	0	1	0	6	62				
