#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
CCDC157	550631	broad.mit.edu	37	22	30762123	30762123	+	Missense_Mutation	SNP	G	G	A	rs201763455		TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr22:30762123G>A	ENST00000405659.1	+	3	843	c.134G>A	c.(133-135)cGc>cAc	p.R45H	CCDC157_ENST00000338306.3_Missense_Mutation_p.R45H|CCDC157_ENST00000399824.2_Missense_Mutation_p.R45H			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	45										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						TTCCCTGACCGCATGGCCTGT	0.652																																						ENST00000405659.1																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						c.(133-135)cGc>cAc		coiled-coil domain containing 157		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	136.0	124.0	128.0		134	3.1	0.8	22		128	0,8600		0,0,4300	yes	missense	CCDC157	NM_001017437.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	45/753	30762123	1,13005	2203	4300	6503	SO:0001583	missense	550631							g.chr22:30762123G>A	BC018040	CCDS33632.2	22q12.2	2009-03-05			ENSG00000187860	ENSG00000187860			33854	protein-coding gene	gene with protein product							Standard	NM_001017437		Approved		uc011aku.2	Q569K6	OTTHUMG00000151007	ENST00000405659.1:c.134G>A	22.37:g.30762123G>A	ENSP00000385357:p.Arg45His					CCDC157_ENST00000399824.2_Missense_Mutation_p.R45H|CCDC157_ENST00000338306.3_Missense_Mutation_p.R45H	p.R45H			Q569K6	CC157_HUMAN			3	843	+			45					Q0VD76|Q9BYA4	Missense_Mutation	SNP	ENST00000405659.1	37	c.134G>A	CCDS33632.2	.	.	.	.	.	.	.	.	.	.	G	14.63	2.592740	0.46214	2.27E-4	0.0	ENSG00000187860	ENST00000399824;ENST00000405659;ENST00000338306;ENST00000445005;ENST00000430839	T;T;T;T;T	0.49720	0.77;1.73;1.73;1.31;1.3	5.25	3.14	0.36123	.	.	.	.	.	T	0.39989	0.1099	L	0.54323	1.7	0.80722	D	1	B	0.15930	0.015	B	0.09377	0.004	T	0.41893	-0.9483	9	0.72032	D	0.01	-10.9826	6.8649	0.24088	0.2995:0.0:0.7005:0.0	.	45	Q569K6	CC157_HUMAN	H	45	ENSP00000382720:R45H;ENSP00000385357:R45H;ENSP00000343087:R45H;ENSP00000387491:R45H;ENSP00000401837:R45H	ENSP00000343087:R45H	R	+	2	0	CCDC157	29092123	0.704000	0.27836	0.834000	0.33040	0.630000	0.37929	2.334000	0.43920	1.352000	0.45808	0.455000	0.32223	CGC		0.652	CCDC157-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320936.1	NM_001017437		4	147	0	0	0	1	0	4	147				
WLS	79971	broad.mit.edu	37	1	68614298	68614298	+	Missense_Mutation	SNP	C	C	T			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr1:68614298C>T	ENST00000262348.4	-	7	1271	c.1018G>A	c.(1018-1020)Gga>Aga	p.G340R	GNG12-AS1_ENST00000420587.1_RNA|GNG12-AS1_ENST00000413628.1_RNA|WLS_ENST00000354777.2_Missense_Mutation_p.G338R|WLS_ENST00000370976.3_Missense_Mutation_p.G249R|WLS_ENST00000491811.1_5'UTR|WLS_ENST00000540432.1_Missense_Mutation_p.G340R	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	340					anterior/posterior axis specification (GO:0009948)|mesoderm formation (GO:0001707)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						GCAATGGGTCCGACTTGCTTC	0.512																																						ENST00000262348.4																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						c.(1018-1020)Gga>Aga		wntless Wnt ligand secretion mediator							161.0	108.0	126.0					1																	68614298		2203	4300	6503	SO:0001583	missense	79971				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	signal transducer activity	g.chr1:68614298C>T	BX538320	CCDS642.1, CCDS30750.1, CCDS53331.1	1p31.2	2013-10-03	2013-10-03	2010-03-02	ENSG00000116729	ENSG00000116729			30238	protein-coding gene	gene with protein product	"""wntless homolog"""	611514	"""chromosome 1 open reading frame 139"", ""G protein-coupled receptor 177"", ""wntless homolog (Drosophila)"""	C1orf139, GPR177		12761501	Standard	NM_024911		Approved	FLJ23091, MRP, wls, EVI, mig-14	uc001dee.3	Q5T9L3	OTTHUMG00000009153	ENST00000262348.4:c.1018G>A	1.37:g.68614298C>T	ENSP00000262348:p.Gly340Arg					WLS_ENST00000540432.1_Missense_Mutation_p.G340R|WLS_ENST00000370976.3_Missense_Mutation_p.G249R|GNG12-AS1_ENST00000413628.1_RNA|WLS_ENST00000354777.2_Missense_Mutation_p.G338R|WLS_ENST00000491811.1_5'UTR|GNG12-AS1_ENST00000420587.1_RNA	p.G340R	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN			7	1271	-			340					B2RNT2|Q5JRS7|Q7Z2Z9|Q8NC43	Missense_Mutation	SNP	ENST00000262348.4	37	c.1018G>A	CCDS642.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.765469	0.90020	.	.	ENSG00000116729	ENST00000540432;ENST00000354777;ENST00000262348;ENST00000370976	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	6.08	6.08	0.98989	.	0.095103	0.64402	D	0.000001	T	0.57989	0.2091	L	0.56769	1.78	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.76071	0.975;0.979;0.987;0.975	T	0.54523	-0.8281	10	0.56958	D	0.05	-9.1404	20.6634	0.99662	0.0:1.0:0.0:0.0	.	340;249;340;338	F5H4K0;Q5JRS7;Q5T9L3;Q5T9L3-2	.;.;WLS_HUMAN;.	R	340;338;340;249	ENSP00000446112:G340R;ENSP00000346829:G338R;ENSP00000262348:G340R;ENSP00000360015:G249R	ENSP00000262348:G340R	G	-	1	0	WLS	68386886	1.000000	0.71417	0.991000	0.47740	0.763000	0.43281	5.710000	0.68392	2.894000	0.99253	0.655000	0.94253	GGA		0.512	WLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025368.1	NM_024911		4	19	0	0	0	1	0	4	19				
HDAC5	10014	broad.mit.edu	37	17	42169758	42169758	+	Missense_Mutation	SNP	C	C	A	rs140895306		TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr17:42169758C>A	ENST00000393622.2	-	8	1241	c.910G>T	c.(910-912)Ggg>Tgg	p.G304W	HDAC5_ENST00000336057.5_Missense_Mutation_p.G304W|HDAC5_ENST00000586802.1_Missense_Mutation_p.G304W|HDAC5_ENST00000225983.6_Missense_Mutation_p.G305W	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	304					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|inflammatory response (GO:0006954)|multicellular organismal response to stress (GO:0033555)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression, epigenetic (GO:0040029)|regulation of myotube differentiation (GO:0010830)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|histone deacetylase complex (GO:0000118)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		CCCCCAGGCCCGGCACCTGTG	0.582																																						ENST00000225983.6																			0				central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21						c.(913-915)Ggg>Tgg		histone deacetylase 5							51.0	55.0	54.0					17																	42169758		2203	4300	6503	SO:0001583	missense	10014				B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding	g.chr17:42169758C>A	AF249731	CCDS32663.1, CCDS45696.1	17q21	2008-07-18					3.5.1.98		14068	protein-coding gene	gene with protein product		605315				10220385, 9610721	Standard	XM_005256905		Approved	KIAA0600, NY-CO-9, FLJ90614	uc002iff.1	Q9UQL6		ENST00000393622.2:c.910G>T	17.37:g.42169758C>A	ENSP00000377244:p.Gly304Trp					HDAC5_ENST00000586802.1_Missense_Mutation_p.G304W|HDAC5_ENST00000393622.2_Missense_Mutation_p.G304W|HDAC5_ENST00000336057.5_Missense_Mutation_p.G304W	p.G305W			Q9UQL6	HDAC5_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.118)	8	1236	-		Breast(137;0.00637)|Prostate(33;0.0313)	304					C9JFV9|O60340|O60528|Q96DY4	Missense_Mutation	SNP	ENST00000393622.2	37	c.913G>T	CCDS45696.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.612869	0.46631	.	.	ENSG00000108840	ENST00000225983;ENST00000393622;ENST00000336057	T;T;T	0.46063	0.88;0.88;0.88	5.21	3.09	0.35607	.	0.244349	0.28365	N	0.015613	T	0.22205	0.0535	N	0.08118	0	0.18873	N	0.999981	B;B;B;B	0.13594	0.001;0.008;0.001;0.001	B;B;B;B	0.11329	0.006;0.003;0.004;0.002	T	0.21280	-1.0250	10	0.87932	D	0	-16.694	8.7109	0.34382	0.0:0.6755:0.2386:0.0859	.	304;304;305;304	Q9UQL6-2;B4DGT4;Q9UQL6-3;Q9UQL6	.;.;.;HDAC5_HUMAN	W	305;304;304	ENSP00000225983:G305W;ENSP00000377244:G304W;ENSP00000337290:G304W	ENSP00000225983:G305W	G	-	1	0	HDAC5	39525284	0.622000	0.27085	0.774000	0.31636	0.897000	0.52465	0.503000	0.22610	1.199000	0.43173	0.462000	0.41574	GGG		0.582	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457686.1	NM_001015053		4	58	1	0	0.150653	1	0.150653	4	58				
FOXA1	3169	broad.mit.edu	37	14	38061208	38061208	+	Missense_Mutation	SNP	G	G	A			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr14:38061208G>A	ENST00000250448.2	-	2	842	c.781C>T	c.(781-783)Cgc>Tgc	p.R261C	FOXA1_ENST00000540786.1_Missense_Mutation_p.R228C|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	261					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		TTCTGGCGGCGCAAGTAGCAG	0.716																																						ENST00000250448.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(781-783)Cgc>Tgc		forkhead box A1							15.0	16.0	15.0					14																	38061208		2202	4298	6500	SO:0001583	missense	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38061208G>A	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.781C>T	14.37:g.38061208G>A	ENSP00000250448:p.Arg261Cys					FOXA1_ENST00000540786.1_Missense_Mutation_p.R228C|FOXA1_ENST00000545425.2_5'UTR	p.R261C	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	842	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		261					B2R9H6|B7ZAP5|Q9H2A0	Missense_Mutation	SNP	ENST00000250448.2	37	c.781C>T	CCDS9665.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.298098	0.81025	.	.	ENSG00000129514	ENST00000250448;ENST00000540786	D;D	0.96136	-3.92;-3.92	3.92	3.02	0.34903	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (2);	0.064498	0.64402	N	0.000006	D	0.98229	0.9414	H	0.96943	3.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97978	1.0347	10	0.87932	D	0	.	10.2805	0.43537	0.1014:0.0:0.8986:0.0	.	261	P55317	FOXA1_HUMAN	C	261;228	ENSP00000250448:R261C;ENSP00000440178:R228C	ENSP00000250448:R261C	R	-	1	0	FOXA1	37130959	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.341000	0.72977	0.867000	0.35654	0.400000	0.26472	CGC		0.716	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			7	10	0	0	0	1	0	7	10				
PTPN4	5775	broad.mit.edu	37	2	120567473	120567473	+	Missense_Mutation	SNP	T	T	A			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr2:120567473T>A	ENST00000263708.2	+	2	815	c.44T>A	c.(43-45)gTa>gAa	p.V15E		NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	15					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	ACCTACAATGTACGAGCATCA	0.403																																						ENST00000263708.2																			0				endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30						c.(43-45)gTa>gAa		protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	Alendronate(DB00630)						130.0	117.0	121.0					2																	120567473		2203	4300	6503	SO:0001583	missense	5775					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity	g.chr2:120567473T>A		CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.44T>A	2.37:g.120567473T>A	ENSP00000263708:p.Val15Glu						p.V15E	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN			2	815	+			15					B2RBV8|Q9UDA7	Missense_Mutation	SNP	ENST00000263708.2	37	c.44T>A	CCDS2129.1	.	.	.	.	.	.	.	.	.	.	T	32	5.135915	0.94517	.	.	ENSG00000088179	ENST00000263708;ENST00000420482;ENST00000488279	T;T;D	0.83250	-0.91;0.57;-1.7	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	D	0.88923	0.6569	L	0.59436	1.845	0.80722	D	1	D	0.71674	0.998	D	0.66497	0.944	D	0.89414	0.3705	10	0.59425	D	0.04	.	16.0522	0.80772	0.0:0.0:0.0:1.0	.	15	P29074	PTN4_HUMAN	E	15	ENSP00000263708:V15E;ENSP00000405763:V15E;ENSP00000438445:V15E	ENSP00000263708:V15E	V	+	2	0	PTPN4	120283943	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.611000	0.82962	2.269000	0.75478	0.455000	0.32223	GTA		0.403	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254233.2			3	51	0	0	0	1	0	3	51				
THSD4	79875	broad.mit.edu	37	15	71952952	71952952	+	Missense_Mutation	SNP	G	G	T			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr15:71952952G>T	ENST00000355327.3	+	8	1370	c.1236G>T	c.(1234-1236)caG>caT	p.Q412H	THSD4_ENST00000261862.6_Missense_Mutation_p.Q412H|THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000357769.4_Missense_Mutation_p.Q52H			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	412					elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CGGGCTGTCAGGTTGTGTCGG	0.542																																						ENST00000355327.3																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1234-1236)caG>caT		thrombospondin, type I, domain containing 4							146.0	153.0	151.0					15																	71952952		1990	4170	6160	SO:0001583	missense	79875					proteinaceous extracellular matrix	metalloendopeptidase activity	g.chr15:71952952G>T	AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.1236G>T	15.37:g.71952952G>T	ENSP00000347484:p.Gln412His					THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000357769.4_Missense_Mutation_p.Q52H|THSD4_ENST00000261862.6_Missense_Mutation_p.Q412H	p.Q412H			Q6ZMP0	THSD4_HUMAN			8	1370	+			412					B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Missense_Mutation	SNP	ENST00000355327.3	37	c.1236G>T	CCDS10238.2	.	.	.	.	.	.	.	.	.	.	G	17.49	3.402946	0.62288	.	.	ENSG00000187720	ENST00000355327;ENST00000261862;ENST00000357769;ENST00000345002	T;T;T	0.68025	-0.3;-0.3;0.35	4.77	2.85	0.33270	.	0.238830	0.26598	N	0.023483	T	0.57301	0.2044	N	0.10837	0.055	0.30339	N	0.785886	D;P;D;D	0.62365	0.991;0.927;0.989;0.975	P;P;P;P	0.59115	0.852;0.601;0.769;0.686	T	0.56733	-0.7930	10	0.51188	T	0.08	.	7.2045	0.25899	0.286:0.0:0.714:0.0	.	52;52;412;412	B4E1J6;B4DR13;Q6ZMP0-2;Q6ZMP0	.;.;.;THSD4_HUMAN	H	412;412;52;52	ENSP00000347484:Q412H;ENSP00000261862:Q412H;ENSP00000350413:Q52H	ENSP00000261862:Q412H	Q	+	3	2	THSD4	69740006	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	1.393000	0.34497	1.146000	0.42352	-0.136000	0.14681	CAG		0.542	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257253.2	NM_024817		46	104	1	0	2.24722e-20	1	2.52127e-20	46	104				
BPTF	2186	broad.mit.edu	37	17	65907564	65907564	+	Silent	SNP	C	C	T			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr17:65907564C>T	ENST00000321892.4	+	13	4003	c.3942C>T	c.(3940-3942)gaC>gaT	p.D1314D	BPTF_ENST00000424123.3_Silent_p.D1175D|BPTF_ENST00000306378.6_Silent_p.D1188D|BPTF_ENST00000335221.5_Silent_p.D1314D			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1314					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTGAAAATGACATAGAAGAAA	0.378																																						ENST00000321892.4																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(3940-3942)gaC>gaT		bromodomain PHD finger transcription factor							41.0	41.0	41.0					17																	65907564		2203	4300	6503	SO:0001819	synonymous_variant	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65907564C>T	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.3942C>T	17.37:g.65907564C>T						BPTF_ENST00000424123.3_Silent_p.D1175D|BPTF_ENST00000306378.6_Silent_p.D1188D|BPTF_ENST00000335221.5_Silent_p.D1314D	p.D1314D			Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		13	4003	+	all_cancers(12;6e-11)		1314					Q6NX67|Q7Z7D6|Q9UIG2	Silent	SNP	ENST00000321892.4	37	c.3942C>T																																																																																					0.378	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		13	10	0	0	0	1	0	13	10				
HTR1E	3354	broad.mit.edu	37	6	87726074	87726074	+	Missense_Mutation	SNP	C	C	T			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr6:87726074C>T	ENST00000305344.5	+	2	1725	c.1022C>T	c.(1021-1023)cCt>cTt	p.P341L		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	341					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	CTGATCAACCCTCTGCTCTAT	0.433																																						ENST00000305344.4																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41						c.(1021-1023)cCt>cTt		5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	Eletriptan(DB00216)						105.0	112.0	109.0					6																	87726074		2203	4300	6503	SO:0001583	missense	3354				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	g.chr6:87726074C>T		CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5291	protein-coding gene	gene with protein product		182132	"""5-hydroxytryptamine (serotonin) receptor 1E"""			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.1022C>T	6.37:g.87726074C>T	ENSP00000307766:p.Pro341Leu					HTR1E_ENST00000369584.1_Missense_Mutation_p.P341L	p.P341L	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.055)	2	1725	+		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)	341					E1P503|Q9P1Y1	Missense_Mutation	SNP	ENST00000305344.5	37	c.1022C>T	CCDS5006.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.163664	0.78226	.	.	ENSG00000168830	ENST00000305344;ENST00000369584	D;D	0.98807	-5.15;-5.15	4.61	4.61	0.57282	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000008	D	0.99594	0.9853	H	0.99104	4.43	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97423	1.0010	10	0.87932	D	0	.	17.4189	0.87508	0.0:1.0:0.0:0.0	.	341	P28566	5HT1E_HUMAN	L	341	ENSP00000307766:P341L;ENSP00000358597:P341L	ENSP00000307766:P341L	P	+	2	0	HTR1E	87782793	1.000000	0.71417	0.999000	0.59377	0.950000	0.60333	7.320000	0.79064	2.119000	0.64992	0.407000	0.27541	CCT		0.433	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865		50	73	0	0	0	1	0	50	73				
OR2W5	441932	broad.mit.edu	37	1	247654714	247654714	+	RNA	SNP	C	C	T	rs201479742	byFrequency	TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr1:247654714C>T	ENST00000522351.1	+	0	345							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H95H(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TCACCTACCACGGCTGTGTGG	0.557													C|||	13	0.00259585	0.0	0.0	5008	,	,		20189	0.0		0.0	False		,,,				2504	0.0133					ENST00000522351.1																			1	Substitution - coding silent(1)	p.H95H(1)	lung(1)	breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39															87.0	87.0	87.0					1																	247654714		2203	4300	6503			0				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247654714C>T			1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"""GPCR / Class A : Olfactory receptors"""	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		1.37:g.247654714C>T										A6NFC9	OR2W5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		0	345	+	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)						B9EH85	RNA	SNP	ENST00000522351.1	37																																																																																						0.557	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	NM_001004698		5	68	0	0	0	1	0	5	68				
HLCS	3141	broad.mit.edu	37	21	38311178	38311178	+	Silent	SNP	T	T	C			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr21:38311178T>C	ENST00000399120.1	-	4	1236	c.6A>G	c.(4-6)gaA>gaG	p.E2E	HLCS_ENST00000336648.4_Silent_p.E2E	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	2					biotin metabolic process (GO:0006768)|cell proliferation (GO:0008283)|histone biotinylation (GO:0071110)|histone modification (GO:0016570)|protein biotinylation (GO:0009305)|response to biotin (GO:0070781)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin-[acetyl-CoA-carboxylase] ligase activity (GO:0004077)|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity (GO:0004078)|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity (GO:0004079)|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity (GO:0004080)|biotin-protein ligase activity (GO:0018271)|enzyme binding (GO:0019899)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	GGAGTCTATCTTCCATGAACG	0.458																																						ENST00000399120.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24						c.(4-6)gaA>gaG		holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	Biotin(DB00121)						156.0	132.0	140.0					21																	38311178		2203	4300	6503	SO:0001819	synonymous_variant	3141				cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding	g.chr21:38311178T>C		CCDS13647.1	21q22.1	2012-07-13	2010-04-30		ENSG00000159267	ENSG00000159267	6.3.4.9, 6.3.4.10, 6.3.4.11, 6.3.4.15		4976	protein-coding gene	gene with protein product		609018	"""holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)"", ""holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)"""			7842009	Standard	NM_000411		Approved	HCS	uc021wjb.1	P50747	OTTHUMG00000086636	ENST00000399120.1:c.6A>G	21.37:g.38311178T>C						HLCS_ENST00000336648.3_Silent_p.E2E	p.E2E	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN			4	1236	-		Myeloproliferative disorder(46;0.0422)	2					B2RAH1|D3DSG6|Q99451	Silent	SNP	ENST00000399120.1	37	c.6A>G	CCDS13647.1																																																																																				0.458	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194687.2			32	48	0	0	0	1	0	32	48				
NCF4	4689	broad.mit.edu	37	22	37263465	37263465	+	Silent	SNP	C	C	T			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr22:37263465C>T	ENST00000248899.6	+	4	487	c.303C>T	c.(301-303)atC>atT	p.I101I	NCF4_ENST00000397147.4_Silent_p.I101I|CTA-833B7.2_ENST00000330602.2_RNA|CTA-833B7.2_ENST00000431290.1_RNA	NM_000631.4	NP_000622.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	101	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|positive regulation of catalytic activity (GO:0043085)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|membrane (GO:0016020)|NADPH oxidase complex (GO:0043020)|phagolysosome (GO:0032010)	phosphatidylinositol-3-phosphate binding (GO:0032266)|protein dimerization activity (GO:0046983)|superoxide-generating NADPH oxidase activator activity (GO:0016176)			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16					Dextromethorphan(DB00514)	AACAGGAGATCGCCGAGATGC	0.607																																						ENST00000397147.4																			0				cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						c.(301-303)atC>atT		neutrophil cytosolic factor 4, 40kDa							104.0	73.0	84.0					22																	37263465		2203	4300	6503	SO:0001819	synonymous_variant	4689				cell communication|immune response|oxidation-reduction process	cytosol|NADPH oxidase complex	phosphatidylinositol binding|protein dimerization activity	g.chr22:37263465C>T	X77094	CCDS13934.1, CCDS13935.1	22q13.1	2014-09-17	2002-08-29		ENSG00000100365	ENSG00000100365			7662	protein-coding gene	gene with protein product	"""neutrophil NADPH oxidase factor 4"""	601488	"""neutrophil cytosolic factor 4 (40kD)"""			8839867	Standard	NM_013416		Approved	p40phox, SH3PXD4	uc003apy.4	Q15080	OTTHUMG00000150548	ENST00000248899.6:c.303C>T	22.37:g.37263465C>T						CTA-833B7.2_ENST00000431290.1_RNA|CTA-833B7.2_ENST00000330602.2_RNA|NCF4_ENST00000248899.6_Silent_p.I101I	p.I101I	NM_013416.3	NP_038202.2	Q15080	NCF4_HUMAN			4	487	+			101			PX.		A8K4F9|O60808|Q86U56|Q9BU98|Q9NP45	Silent	SNP	ENST00000248899.6	37	c.303C>T	CCDS13934.1																																																																																				0.607	NCF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318863.1	NM_000631		14	32	0	0	0	1	0	14	32				
USP8	9101	broad.mit.edu	37	15	50788105	50788105	+	Missense_Mutation	SNP	G	G	T			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr15:50788105G>T	ENST00000396444.3	+	17	3057	c.2719G>T	c.(2719-2721)Gca>Tca	p.A907S	USP8_ENST00000433963.1_Missense_Mutation_p.A907S|USP8_ENST00000307179.4_Missense_Mutation_p.A907S|RP11-562A8.4_ENST00000560380.1_RNA|USP8_ENST00000425032.3_Missense_Mutation_p.A801S|RP11-562A8.5_ENST00000560159.1_lincRNA	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	907	USP.				cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		CTTTAAAGCTGCAGAACATGC	0.353																																						ENST00000433963.1																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(2719-2721)Gca>Tca		ubiquitin specific peptidase 8							47.0	42.0	43.0					15																	50788105		2196	4289	6485	SO:0001583	missense	9101				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr15:50788105G>T	D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"""Ubiquitin-specific peptidases"""	12631	protein-coding gene	gene with protein product		603158	"""ubiquitin specific protease 8"""			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.2719G>T	15.37:g.50788105G>T	ENSP00000379721:p.Ala907Ser					RP11-562A8.5_ENST00000560159.1_lincRNA|USP8_ENST00000396444.3_Missense_Mutation_p.A907S|USP8_ENST00000425032.3_Missense_Mutation_p.A801S|USP8_ENST00000307179.4_Missense_Mutation_p.A907S	p.A907S	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN		all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)	18	3219	+			907					B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Missense_Mutation	SNP	ENST00000396444.3	37	c.2719G>T	CCDS10137.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.467442	0.84533	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179;ENST00000425032;ENST00000419830;ENST00000396440	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	5.23	5.23	0.72850	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.143368	0.64402	D	0.000007	T	0.40473	0.1118	L	0.59967	1.855	0.80722	D	1	B;P	0.38195	0.353;0.622	P;P	0.48454	0.578;0.578	T	0.14008	-1.0488	10	0.05351	T	0.99	-20.013	19.1621	0.93537	0.0:0.0:1.0:0.0	.	801;907	B4DKA8;P40818	.;UBP8_HUMAN	S	907;907;907;801;125;120	ENSP00000379721:A907S;ENSP00000405537:A907S;ENSP00000302239:A907S;ENSP00000412682:A801S	ENSP00000302239:A907S	A	+	1	0	USP8	48575397	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.203000	0.72137	2.597000	0.87782	0.650000	0.86243	GCA		0.353	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1	NM_005154		17	19	1	0	1.02788e-11	1	1.12578e-11	17	19				
ZRSR1	7310	broad.mit.edu	37	5	112228018	112228018	+	Missense_Mutation	SNP	G	G	A			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr5:112228018G>A	ENST00000391338.1	+	1	706	c.682G>A	c.(682-684)Gca>Aca	p.A228T	REEP5_ENST00000545426.1_Intron|REEP5_ENST00000513339.1_Intron|REEP5_ENST00000474542.2_Intron|REEP5_ENST00000504247.1_Intron|CTC-487M23.5_ENST00000602872.1_RNA|CTC-487M23.8_ENST00000506997.1_3'UTR|REEP5_ENST00000379638.4_Intron|CTC-487M23.8_ENST00000512790.1_3'UTR	NM_001204199.1	NP_001191128.1	Q15695	U2AFL_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1	228	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|skin(1)|stomach(2)	4						TGACCCTGACGCAAGCCTGGA	0.448																																						ENST00000391338.1																			0				breast(1)|skin(1)|stomach(2)	4						c.(682-684)Gca>Aca		zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1																																				SO:0001583	missense	7310							g.chr5:112228018G>A	D49676		5q22.2	2013-02-12	2006-09-26	2006-09-26	ENSG00000212643	ENSG00000212643		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	12456	protein-coding gene	gene with protein product	"""U2(RNU2) small nuclear RNA auxiliary factor pseudogene 1"""	601079	"""U2(RNU2) small nuclear RNA auxiliary factor binding protein-like"", ""U2(RNU2) small nuclear RNA auxillary factor 1-like 1"", ""U2 small nuclear RNA auxillary factor 1-like 1"""	U2AFBPL, U2AF1P, U2AF1L1		7956352	Standard	NG_005419		Approved	U2AF1-RS1, U2AF1RS1	uc021ycm.1	Q15695	OTTHUMG00000163143	ENST00000391338.1:c.682G>A	5.37:g.112228018G>A	ENSP00000375133:p.Ala228Thr					REEP5_ENST00000379638.4_Intron|REEP5_ENST00000545426.1_Intron|REEP5_ENST00000474542.2_Intron|SRP19_ENST00000512790.1_3'UTR|REEP5_ENST00000504247.1_Intron|REEP5_ENST00000513339.1_Intron	p.A228T	NM_001204199.1	NP_001191128.1					1	706	+								B2R901|Q13570|Q2M3R8	Missense_Mutation	SNP	ENST00000391338.1	37	c.682G>A		.	.	.	.	.	.	.	.	.	.	G	10.54	1.377626	0.24944	.	.	ENSG00000212643	ENST00000391338	.	.	.	1.58	1.58	0.23477	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.050975	0.85682	D	0.000000	T	0.27524	0.0676	.	.	.	0.49483	D	0.999799	P	0.42692	0.787	B	0.32928	0.155	T	0.05852	-1.0860	8	0.27785	T	0.31	.	9.0826	0.36561	0.0:0.0:1.0:0.0	.	228	Q15695	U2AFL_HUMAN	T	228	.	ENSP00000375133:A228T	A	+	1	0	ZRSR1	112255917	1.000000	0.71417	0.114000	0.21550	0.308000	0.27856	6.288000	0.72679	1.168000	0.42723	0.467000	0.42956	GCA		0.448	ZRSR1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371801.1	NM_005083		7	67	0	0	0	1	0	7	67				
MRO	83876	broad.mit.edu	37	18	48333127	48333127	+	Missense_Mutation	SNP	G	G	A	rs199725891	byFrequency	TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr18:48333127G>A	ENST00000428869.2	-	5	451	c.193C>T	c.(193-195)Cgt>Tgt	p.R65C	MRO_ENST00000588444.1_Missense_Mutation_p.R65C|MRO_ENST00000436348.2_Missense_Mutation_p.R79C|MRO_ENST00000398439.3_Missense_Mutation_p.R65C|MRO_ENST00000587291.1_Intron|MRO_ENST00000256425.2_Missense_Mutation_p.R65C|MRO_ENST00000431965.2_Missense_Mutation_p.R79C			Q9BYG7	MSTRO_HUMAN	maestro	65						nucleolus (GO:0005730)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		GCCATGTGACGCTTTTTAGCA	0.542													G|||	2	0.000399361	0.0008	0.0	5008	,	,		18501	0.001		0.0	False		,,,				2504	0.0					ENST00000428869.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10						c.(193-195)Cgt>Tgt		maestro							129.0	131.0	130.0					18																	48333127		2203	4300	6503	SO:0001583	missense	83876					nucleolus	binding	g.chr18:48333127G>A	AK054702	CCDS11947.1, CCDS45867.1, CCDS45868.1, CCDS45869.1	18q21	2012-12-19	2004-06-15		ENSG00000134042	ENSG00000134042		"""maestro heat-like repeat containing"""	24121	protein-coding gene	gene with protein product	"""B29 protein"", ""beside the Ma29 deletion"""	608080	"""chromosome 18 open reading frame 3"""	C18orf3		11401430	Standard	NM_031939		Approved	B29, FLJ30140	uc010dpa.3	Q9BYG7	OTTHUMG00000132692	ENST00000428869.2:c.193C>T	18.37:g.48333127G>A	ENSP00000409509:p.Arg65Cys					MRO_ENST00000398439.3_Missense_Mutation_p.R65C|MRO_ENST00000436348.2_Missense_Mutation_p.R79C|MRO_ENST00000256425.2_Missense_Mutation_p.R65C|MRO_ENST00000588444.1_Missense_Mutation_p.R65C|MRO_ENST00000431965.2_Missense_Mutation_p.R79C|MRO_ENST00000587291.1_Intron	p.R65C			Q9BYG7	MSTRO_HUMAN		Colorectal(21;0.082)	5	451	-		Colorectal(6;0.0596)	65					B7Z2I5|B7Z3B2|E9PAT5|E9PBI3|K7EKJ8|Q8N6K5	Missense_Mutation	SNP	ENST00000428869.2	37	c.193C>T	CCDS11947.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	15.77	2.931441	0.52866	.	.	ENSG00000134042	ENST00000436348;ENST00000431965;ENST00000428869;ENST00000398439;ENST00000256425	T;T;T;T;T	0.73789	-0.78;-0.74;0.77;0.77;0.77	5.43	5.43	0.79202	Armadillo-like helical (1);Armadillo-type fold (1);	0.131761	0.34025	N	0.004333	D	0.87557	0.6207	M	0.87269	2.87	0.53005	D	0.999961	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.998;0.998	D	0.89281	0.3612	10	0.72032	D	0.01	-23.2135	14.7393	0.69440	0.0:0.0:1.0:0.0	.	65;79;79;65	E9PFU2;E9PBI3;E9PAT5;Q9BYG7	.;.;.;MSTRO_HUMAN	C	79;79;65;65;65	ENSP00000397900:R79C;ENSP00000392614:R79C;ENSP00000409509:R65C;ENSP00000381465:R65C;ENSP00000256425:R65C	ENSP00000256425:R65C	R	-	1	0	MRO	46587125	1.000000	0.71417	1.000000	0.80357	0.115000	0.19883	4.727000	0.61993	2.565000	0.86533	0.561000	0.74099	CGT		0.542	MRO-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449478.2	NM_031939		12	121	0	0	0	1	0	12	121				
MAGEB6	158809	broad.mit.edu	37	X	26212779	26212779	+	Missense_Mutation	SNP	T	T	A			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chrX:26212779T>A	ENST00000379034.1	+	2	965	c.816T>A	c.(814-816)agT>agA	p.S272R		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	272	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GCCTCCCCAGTGAAGGAATTC	0.532																																						ENST00000379034.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						c.(814-816)agT>agA		melanoma antigen family B, 6							108.0	95.0	99.0					X																	26212779		2202	4300	6502	SO:0001583	missense	158809							g.chrX:26212779T>A	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 4"""	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.816T>A	X.37:g.26212779T>A	ENSP00000368320:p.Ser272Arg						p.S272R	NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN			2	965	+			272			MAGE.		Q6GS19|Q9H219	Missense_Mutation	SNP	ENST00000379034.1	37	c.816T>A	CCDS14217.1	.	.	.	.	.	.	.	.	.	.	T	2.555	-0.303084	0.05495	.	.	ENSG00000176746	ENST00000379034	T	0.04917	3.53	3.29	-6.52	0.01872	.	1.768910	0.03485	N	0.215634	T	0.11067	0.0270	L	0.48986	1.54	0.09310	N	1	P	0.51653	0.947	P	0.59761	0.863	T	0.31586	-0.9938	10	0.25751	T	0.34	.	2.1311	0.03750	0.1307:0.1585:0.1301:0.5806	.	272	Q8N7X4	MAGB6_HUMAN	R	272	ENSP00000368320:S272R	ENSP00000368320:S272R	S	+	3	2	MAGEB6	26122700	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.067000	0.00620	-1.872000	0.01136	-2.105000	0.00359	AGT		0.532	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		51	11	0	0	0	1	0	51	11				
PRPF19	27339	broad.mit.edu	37	11	60658695	60658695	+	Silent	SNP	G	G	A			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr11:60658695G>A	ENST00000227524.4	-	16	1663	c.1458C>T	c.(1456-1458)caC>caT	p.H486H		NM_014502.4	NP_055317.1			pre-mRNA processing factor 19									p.H486H(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						TGAACTTGGCGTGATGCCCGA	0.542																																						ENST00000227524.4																			1	Substitution - coding silent(1)	p.H486H(1)	kidney(1)	haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						c.(1456-1458)caC>caT		pre-mRNA processing factor 19							82.0	69.0	73.0					11																	60658695		2203	4299	6502	SO:0001819	synonymous_variant	27339				DNA repair|protein polyubiquitination|spliceosome assembly	catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex	DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity	g.chr11:60658695G>A	BC018698	CCDS7995.1	11q12.2	2014-05-20	2013-06-10	2005-04-01	ENSG00000110107	ENSG00000110107		"""WD repeat domain containing"", ""U-box domain containing"""	17896	protein-coding gene	gene with protein product	"""nuclear matrix protein NMP200 related to splicing factor PRP19"", ""psoralen 4"""	608330	"""PRP19/PSO4 homolog (S. cerevisiae)"", ""PRP19/PSO4 pre-mRNA processing factor 19 homolog (S. cerevisiae)"""	PRP19		12960389	Standard	NM_014502		Approved	UBOX4, NMP200, PSO4, hPSO4	uc001nqf.3	Q9UMS4	OTTHUMG00000167798	ENST00000227524.4:c.1458C>T	11.37:g.60658695G>A							p.H486H	NM_014502.4	NP_055317.1	Q9UMS4	PRP19_HUMAN			16	1663	-			486						Silent	SNP	ENST00000227524.4	37	c.1458C>T	CCDS7995.1																																																																																				0.542	PRPF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396334.1	NM_014502		13	20	0	0	0	1	0	13	20				
PTCH1	5727	broad.mit.edu	37	9	98222052	98222052	+	Missense_Mutation	SNP	C	C	T			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr9:98222052C>T	ENST00000331920.6	-	17	3016	c.2717G>A	c.(2716-2718)cGt>cAt	p.R906H	PTCH1_ENST00000421141.1_Missense_Mutation_p.R755H|PTCH1_ENST00000437951.1_Missense_Mutation_p.R840H|PTCH1_ENST00000429896.2_Missense_Mutation_p.R755H|PTCH1_ENST00000375274.2_Missense_Mutation_p.R905H|PTCH1_ENST00000430669.2_Missense_Mutation_p.R840H|PTCH1_ENST00000418258.1_Missense_Mutation_p.R755H	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	906					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				ATCCACCAGACGCTGTTTAGT	0.537																																						ENST00000430669.2																			0				NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490						c.(2518-2520)cGt>cAt		patched 1							68.0	62.0	64.0					9																	98222052		2203	4300	6503	SO:0001583	missense	5727				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	g.chr9:98222052C>T	AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.2717G>A	9.37:g.98222052C>T	ENSP00000332353:p.Arg906His					PTCH1_ENST00000437951.1_Missense_Mutation_p.R840H|PTCH1_ENST00000421141.1_Missense_Mutation_p.R755H|PTCH1_ENST00000331920.6_Missense_Mutation_p.R906H|PTCH1_ENST00000418258.1_Missense_Mutation_p.R755H|PTCH1_ENST00000375274.2_Missense_Mutation_p.R905H|PTCH1_ENST00000429896.2_Missense_Mutation_p.R755H	p.R840H			Q13635	PTC1_HUMAN			17	3104	-		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)	906					A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	c.2519G>A	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.461484	0.84317	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000375275;ENST00000430669;ENST00000429896;ENST00000375274	D;D;D;D;D;D;D	0.93659	-3.25;-3.23;-3.23;-3.23;-3.23;-3.23;-3.26	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	D	0.96855	0.8973	M	0.82323	2.585	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.991;0.998	D	0.96729	0.9538	10	0.51188	T	0.08	-15.5078	18.4744	0.90786	0.0:1.0:0.0:0.0	.	840;905;906	Q13635-3;Q13635-2;Q13635	.;.;PTC1_HUMAN	H	906;840;755;755;342;840;755;905	ENSP00000332353:R906H;ENSP00000389744:R840H;ENSP00000399981:R755H;ENSP00000396135:R755H;ENSP00000410287:R840H;ENSP00000414823:R755H;ENSP00000364423:R905H	ENSP00000332353:R906H	R	-	2	0	PTCH1	97261873	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.320000	0.79064	2.600000	0.87896	0.563000	0.77884	CGT		0.537	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		4	31	0	0	0	1	0	4	31				
PRICKLE1	144165	broad.mit.edu	37	12	42860182	42860182	+	Splice_Site	SNP	T	T	C			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr12:42860182T>C	ENST00000455697.1	-	6	874	c.589A>G	c.(589-591)Ata>Gta	p.I197V	PRICKLE1_ENST00000548696.1_Splice_Site_p.I197V|PRICKLE1_ENST00000345127.3_Splice_Site_p.I197V|PRICKLE1_ENST00000552240.1_Splice_Site_p.I197V|PRICKLE1_ENST00000445766.2_Splice_Site_p.I197V|RP11-328C8.4_ENST00000547824.1_RNA	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	197	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		GCAAAAATTATCTTCAAAAAG	0.433																																						ENST00000455697.1																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						c.e6-1		prickle homolog 1 (Drosophila)							55.0	53.0	54.0					12																	42860182		2203	4300	6503	SO:0001630	splice_region_variant	0				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding	g.chr12:42860182T>C	AK056499	CCDS8742.1	12p11-q12	2010-08-13	2006-09-12			ENSG00000139174			17019	protein-coding gene	gene with protein product		608500	"""prickle-like 1 (Drosophila)"""			12525887, 18976727	Standard	NM_153026		Approved	FLJ31937, EPM1B	uc010skv.2	Q96MT3		ENST00000455697.1:c.589-1A>G	12.37:g.42860182T>C						PRICKLE1_ENST00000345127.3_Splice_Site_p.I197_splice|PRICKLE1_ENST00000548696.1_Splice_Site_p.I197_splice|PRICKLE1_ENST00000552240.1_Splice_Site_p.I197_splice|PRICKLE1_ENST00000445766.2_Splice_Site_p.I197_splice	p.I197_splice	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN		GBM - Glioblastoma multiforme(48;0.2)	6	874	-	all_cancers(12;4.25e-05)|Breast(8;0.176)		197			LIM zinc-binding 2.		Q14C83|Q71QF8|Q96N00	Splice_Site	SNP	ENST00000455697.1	37	c.588_splice	CCDS8742.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.227723	0.79576	.	.	ENSG00000139174	ENST00000455697;ENST00000445766;ENST00000548696;ENST00000345127;ENST00000552240	D;D;D;D;D	0.86497	-2.13;-2.13;-2.13;-2.13;-2.13	5.18	5.18	0.71444	Zinc finger, LIM-type (5);	0.041340	0.85682	D	0.000000	D	0.88665	0.6498	L	0.35593	1.075	0.80722	D	1	P	0.46578	0.88	P	0.58266	0.836	D	0.89543	0.3794	10	0.56958	D	0.05	-12.0798	15.3353	0.74247	0.0:0.0:0.0:1.0	.	197	Q96MT3	PRIC1_HUMAN	V	197	ENSP00000401060:I197V;ENSP00000398947:I197V;ENSP00000448359:I197V;ENSP00000345064:I197V;ENSP00000449819:I197V	ENSP00000345064:I197V	I	-	1	0	PRICKLE1	41146449	1.000000	0.71417	0.999000	0.59377	0.889000	0.51656	7.997000	0.88414	2.094000	0.63399	0.459000	0.35465	ATA		0.433	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404069.1		Missense_Mutation	19	21	0	0	0	1	0	19	21				
LPHN3	23284	broad.mit.edu	37	4	62813870	62813870	+	Missense_Mutation	SNP	G	G	A	rs372785017		TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr4:62813870G>A	ENST00000514591.1	+	16	2806	c.2477G>A	c.(2476-2478)cGt>cAt	p.R826H	LPHN3_ENST00000506700.1_Missense_Mutation_p.R826H|LPHN3_ENST00000508946.1_Missense_Mutation_p.R826H|LPHN3_ENST00000507625.1_Missense_Mutation_p.R894H|LPHN3_ENST00000504896.1_Missense_Mutation_p.R826H|LPHN3_ENST00000512091.2_Missense_Mutation_p.R826H|LPHN3_ENST00000514996.1_Missense_Mutation_p.R826H|LPHN3_ENST00000509896.1_Missense_Mutation_p.R894H|LPHN3_ENST00000506746.1_Missense_Mutation_p.R894H|LPHN3_ENST00000506720.1_Missense_Mutation_p.R894H|LPHN3_ENST00000511324.1_Missense_Mutation_p.R894H|LPHN3_ENST00000507164.1_Missense_Mutation_p.R894H|LPHN3_ENST00000545650.1_Missense_Mutation_p.R826H|LPHN3_ENST00000514157.1_Missense_Mutation_p.R826H|LPHN3_ENST00000508693.1_Missense_Mutation_p.R894H			Q9HAR2	LPHN3_HUMAN	latrophilin 3	813	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)	p.R826H(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TACTCCAAGCGTACAATGACA	0.383																																						ENST00000512091.1																			3	Substitution - Missense(3)	p.R826H(3)	prostate(3)	breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						c.(2476-2478)cGt>cAt		latrophilin 3		G	HIS/ARG	0,3750		0,0,1875	88.0	78.0	81.0		2477	6.0	1.0	4		81	1,8211		0,1,4105	no	missense	LPHN3	NM_015236.4	29	0,1,5980	AA,AG,GG		0.0122,0.0,0.0084	benign	826/1470	62813870	1,11961	1875	4106	5981	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62813870G>A	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.2477G>A	4.37:g.62813870G>A	ENSP00000422533:p.Arg826His					LPHN3_ENST00000509896.1_Missense_Mutation_p.R894H|LPHN3_ENST00000514591.1_Missense_Mutation_p.R826H|LPHN3_ENST00000545650.1_Missense_Mutation_p.R826H|LPHN3_ENST00000508693.1_Missense_Mutation_p.R894H|LPHN3_ENST00000507164.1_Missense_Mutation_p.R894H|LPHN3_ENST00000508946.1_Missense_Mutation_p.R826H|LPHN3_ENST00000514996.1_Missense_Mutation_p.R826H|LPHN3_ENST00000507625.1_Missense_Mutation_p.R894H|LPHN3_ENST00000506700.1_Missense_Mutation_p.R826H|LPHN3_ENST00000506746.1_Missense_Mutation_p.R894H|LPHN3_ENST00000504896.1_Missense_Mutation_p.R826H|LPHN3_ENST00000514157.1_Missense_Mutation_p.R826H|LPHN3_ENST00000506720.1_Missense_Mutation_p.R894H|LPHN3_ENST00000511324.1_Missense_Mutation_p.R894H	p.R826H			Q9HAR2	LPHN3_HUMAN			16	3224	+			813			GPS.		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.2477G>A	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	G	19.43	3.826766	0.71143	0.0	1.22E-4	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.70869	-0.49;-0.49;-0.5;-0.49;-0.48;-0.49;-0.49;-0.5;-0.49;-0.48;-0.49;-0.51;-0.52;-0.51;-0.5	5.98	5.98	0.97165	GPS domain (3);	0.113991	0.53938	D	0.000055	T	0.79094	0.4388	L	0.39467	1.215	0.43564	D	0.995889	D;D;D	0.76494	0.999;0.999;0.993	D;D;P	0.63033	0.91;0.91;0.799	T	0.78339	-0.2242	10	0.56958	D	0.05	.	20.5212	0.99222	0.0:0.0:1.0:0.0	.	826;813;826	E9PE04;Q9HAR2;Q9HAR2-2	.;LPHN3_HUMAN;.	H	826;826;894;894;826;826;813;826;894;894;894;826;826;826;894;894;826	ENSP00000423388:R826H;ENSP00000422533:R826H;ENSP00000423787:R894H;ENSP00000425033:R894H;ENSP00000424120:R826H;ENSP00000439831:R826H;ENSP00000421476:R894H;ENSP00000424030:R894H;ENSP00000421372:R894H;ENSP00000425201:R826H;ENSP00000423434:R826H;ENSP00000421627:R826H;ENSP00000420931:R894H;ENSP00000425884:R894H;ENSP00000424258:R826H	ENSP00000280009:R826H	R	+	2	0	LPHN3	62496465	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.479000	0.53165	2.861000	0.98227	0.650000	0.86243	CGT		0.383	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			11	13	0	0	0	1	0	11	13				
SLC5A10	125206	broad.mit.edu	37	17	18923109	18923109	+	Silent	SNP	C	C	T			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr17:18923109C>T	ENST00000395645.3	+	13	1512	c.1494C>T	c.(1492-1494)tgC>tgT	p.C498C	SLC5A10_ENST00000395642.1_Silent_p.C468C|SLC5A10_ENST00000317977.6_Silent_p.C468C|SLC5A10_ENST00000395647.2_Silent_p.C514C|SLC5A10_ENST00000417251.2_Silent_p.C462C|SLC5A10_ENST00000395643.2_Silent_p.C471C	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	498					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						CCCCACCGTGCGGAGAGCCAG	0.667																																						ENST00000317977.6																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						c.(1402-1404)tgC>tgT		solute carrier family 5 (sodium/sugar cotransporter), member 10							37.0	38.0	38.0					17																	18923109		2203	4299	6502	SO:0001819	synonymous_variant	125206				sodium ion transport|transmembrane transport	integral to membrane	transporter activity	g.chr17:18923109C>T		CCDS11201.2, CCDS42275.1, CCDS59277.1, CCDS59278.1, CCDS74008.1	17p11.2	2013-07-19	2013-07-19		ENSG00000154025	ENSG00000154025		"""Solute carriers"""	23155	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 10"""				Standard	NM_152351		Approved	SGLT5	uc002gut.2	A0PJK1	OTTHUMG00000178143	ENST00000395645.3:c.1494C>T	17.37:g.18923109C>T						SLC5A10_ENST00000395642.1_Silent_p.C468C|SLC5A10_ENST00000417251.2_Silent_p.C462C|SLC5A10_ENST00000395647.2_Silent_p.C514C|SLC5A10_ENST00000395645.3_Silent_p.C498C|SLC5A10_ENST00000395643.2_Silent_p.C471C	p.C468C			A0PJK1	SC5AA_HUMAN			13	1975	+			498					A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Silent	SNP	ENST00000395645.3	37	c.1404C>T	CCDS42275.1																																																																																				0.667	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132129.2	NM_152351		9	7	0	0	0	1	0	9	7				
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs376114863		TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478																																						ENST00000418868.1																			0																																																			0							g.chr3:197348674A>G																													3.37:g.197348674A>G								NR_003266.2						0	585	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.478	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			4	73	0	0	0	1	0	4	73				
UHRF2	115426	broad.mit.edu	37	9	6504676	6504676	+	Silent	SNP	C	C	T			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr9:6504676C>T	ENST00000276893.5	+	15	2415	c.2247C>T	c.(2245-2247)ttC>ttT	p.F749F	UHRF2_ENST00000485617.2_3'UTR	NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase	749					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of cell cycle arrest (GO:0071158)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		CTGAGTGCTTCCACAATGTCT	0.383																																						ENST00000276893.5																			0				cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17						c.(2245-2247)ttC>ttT		ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase							90.0	83.0	85.0					9																	6504676		2203	4300	6503	SO:0001819	synonymous_variant	115426				cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:6504676C>T	AF274049	CCDS6469.1	9p24.1	2013-01-28	2012-02-23		ENSG00000147854	ENSG00000147854		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	12557	protein-coding gene	gene with protein product	"""Np95-like ring finger protein"""	615211	"""ubiquitin-like with PHD and ring finger domains 2"""			12176013	Standard	NM_152896		Approved	RNF107, NIRF, URF2, MGC33463	uc003zjy.3	Q96PU4	OTTHUMG00000019521	ENST00000276893.5:c.2247C>T	9.37:g.6504676C>T						UHRF2_ENST00000485617.2_3'UTR	p.F749F	NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)	15	2415	+		Acute lymphoblastic leukemia(23;0.158)	749					Q5VYR1|Q5VYR3|Q659C8|Q8TAG7	Silent	SNP	ENST00000276893.5	37	c.2247C>T	CCDS6469.1																																																																																				0.383	UHRF2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051665.3	NM_152306		9	11	0	0	0	1	0	9	11				
PTCHD3	374308	broad.mit.edu	37	10	27688043	27688043	+	Missense_Mutation	SNP	A	A	G			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr10:27688043A>G	ENST00000438700.3	-	4	1601	c.1484T>C	c.(1483-1485)aTc>aCc	p.I495T		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	495	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GATGTTAGTGATGGTGGTGAT	0.403																																						ENST00000438700.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						c.(1483-1485)aTc>aCc		patched domain containing 3							101.0	89.0	93.0					10																	27688043		2203	4300	6503	SO:0001583	missense	374308				spermatid development	integral to membrane	hedgehog receptor activity	g.chr10:27688043A>G	AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.1484T>C	10.37:g.27688043A>G	ENSP00000417658:p.Ile495Thr						p.I495T	NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN			4	1601	-			495			SSD.		I3L499|Q6ZU28	Missense_Mutation	SNP	ENST00000438700.3	37	c.1484T>C	CCDS31173.1	.	.	.	.	.	.	.	.	.	.	A	7.222	0.597578	0.13875	.	.	ENSG00000182077	ENST00000438700	D	0.92299	-3.01	4.01	2.87	0.33458	Sterol-sensing domain (1);	0.818375	0.11074	N	0.602559	D	0.87422	0.6173	L	0.33245	0.995	0.29596	N	0.848089	B	0.32302	0.363	B	0.35353	0.201	T	0.80612	-0.1305	10	0.46703	T	0.11	-3.3291	8.9644	0.35867	0.9086:0.0:0.0914:0.0	.	495	Q3KNS1	PTHD3_HUMAN	T	495	ENSP00000417658:I495T	ENSP00000417658:I495T	I	-	2	0	PTCHD3	27728049	0.997000	0.39634	0.249000	0.24280	0.219000	0.24729	4.526000	0.60566	0.590000	0.29694	0.397000	0.26171	ATC		0.403	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541		30	42	0	0	0	1	0	30	42				
COL11A1	1301	broad.mit.edu	37	1	103468003	103468003	+	Missense_Mutation	SNP	T	T	A			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr1:103468003T>A	ENST00000370096.3	-	23	2390	c.2078A>T	c.(2077-2079)cAa>cTa	p.Q693L	COL11A1_ENST00000512756.1_Missense_Mutation_p.Q577L|COL11A1_ENST00000353414.4_Missense_Mutation_p.Q654L|COL11A1_ENST00000358392.2_Missense_Mutation_p.Q705L|COL11A1_ENST00000461720.1_5'UTR	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	693	Collagen-like 5.|Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TGGATTCCCTTGTTGACCTGG	0.433																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(2113-2115)cAa>cTa		collagen, type XI, alpha 1							39.0	40.0	40.0					1																	103468003		2200	4299	6499	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103468003T>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.2078A>T	1.37:g.103468003T>A	ENSP00000359114:p.Gln693Leu					COL11A1_ENST00000353414.4_Missense_Mutation_p.Q654L|COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000512756.1_Missense_Mutation_p.Q577L|COL11A1_ENST00000370096.3_Missense_Mutation_p.Q693L	p.Q705L	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	23	2431	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	693			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.2114A>T	CCDS778.1	.	.	.	.	.	.	.	.	.	.	T	29.4	5.002301	0.93227	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756	D;D;D;D	0.95788	-3.81;-3.81;-3.81;-3.81	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.95915	0.8670	L	0.41906	1.305	0.80722	D	1	D;D;D;D	0.64830	0.987;0.992;0.992;0.994	D;D;D;D	0.76575	0.953;0.979;0.979;0.988	D	0.96911	0.9667	10	0.72032	D	0.01	.	16.5764	0.84681	0.0:0.0:0.0:1.0	.	577;654;705;693	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	L	693;705;654;577	ENSP00000359114:Q693L;ENSP00000351163:Q705L;ENSP00000302551:Q654L;ENSP00000426533:Q577L	ENSP00000302551:Q654L	Q	-	2	0	COL11A1	103240591	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.422000	0.80217	2.371000	0.80710	0.533000	0.62120	CAA		0.433	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		7	11	0	0	0	1	0	7	11				
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		1582	Substitution - Missense(1582)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(3139-3141)cAt>cGt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							99.0	89.0	92.0					3																	178952085		1912	4130	6042	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178952085A>G		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.H1047R	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		21	3297	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1047		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).	PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3140A>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			22	41	0	0	0	1	0	22	41				
AMER3	205147	broad.mit.edu	37	2	131521766	131521766	+	Silent	SNP	G	G	A			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr2:131521766G>A	ENST00000423981.1	+	2	2231	c.2121G>A	c.(2119-2121)ggG>ggA	p.G707G	AMER3_ENST00000321420.4_Silent_p.G707G	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	707					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										GGCTCTTTGGGCAGCGCTGGG	0.642																																						ENST00000423981.1																			0											c.(2119-2121)ggG>ggA		APC membrane recruitment protein 3							31.0	31.0	31.0					2																	131521766		2203	4300	6503	SO:0001819	synonymous_variant	205147							g.chr2:131521766G>A	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.2121G>A	2.37:g.131521766G>A						AMER3_ENST00000321420.4_Silent_p.G707G	p.G707G	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2					2	2231	+								B7ZLH6	Silent	SNP	ENST00000423981.1	37	c.2121G>A	CCDS2164.1																																																																																				0.642	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		5	26	0	0	0	1	0	5	26				
SZT2	23334	broad.mit.edu	37	1	43913222	43913222	+	Nonsense_Mutation	SNP	T	T	A			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr1:43913222T>A	ENST00000562955.1	+	66	9122	c.9122T>A	c.(9121-9123)tTg>tAg	p.L3041*	SZT2-AS1_ENST00000396885.2_RNA|SZT2_ENST00000372442.1_Nonsense_Mutation_p.L2199*	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	3098					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TCAGGGACATTGGAGCTCCCC	0.552																																						ENST00000562955.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(9121-9123)tTg>tAg		seizure threshold 2 homolog (mouse)							106.0	104.0	104.0					1																	43913222		2203	4300	6503	SO:0001587	stop_gained	23334					peroxisome		g.chr1:43913222T>A	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.9122T>A	1.37:g.43913222T>A	ENSP00000457168:p.Leu3041*					SZT2_ENST00000372442.1_Nonsense_Mutation_p.L2199*	p.L3041*	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			66	9122	+			3098					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Nonsense_Mutation	SNP	ENST00000562955.1	37	c.9122T>A	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	T	49	16.052326	0.99853	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.75	5.75	0.90469	.	0.393376	0.28504	N	0.015105	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.0519	0.80769	0.0:0.0:0.0:1.0	.	.	.	.	X	2199	.	ENSP00000361519:L2199X	L	+	2	0	SZT2	43685809	1.000000	0.71417	0.936000	0.37596	0.965000	0.64279	5.339000	0.65953	2.196000	0.70406	0.533000	0.62120	TTG		0.552	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		29	47	0	0	0	1	0	29	47				
CELF1	10658	broad.mit.edu	37	11	47493882	47493882	+	Missense_Mutation	SNP	G	G	A			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr11:47493882G>A	ENST00000358597.3	-	12	1360	c.1361C>T	c.(1360-1362)tCg>tTg	p.S454L	CELF1_ENST00000310513.5_Missense_Mutation_p.S450L|CELF1_ENST00000361904.3_Missense_Mutation_p.S451L|CELF1_ENST00000395292.2_Missense_Mutation_p.S451L|CELF1_ENST00000532048.1_Missense_Mutation_p.S480L|CELF1_ENST00000539455.1_5'UTR|CELF1_ENST00000531165.1_Missense_Mutation_p.S482L|CELF1_ENST00000395290.2_Missense_Mutation_p.S453L			Q92879	CELF1_HUMAN	CUGBP, Elav-like family member 1	454	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of translation (GO:0017148)|positive regulation of multicellular organism growth (GO:0040018)|regulation of RNA splicing (GO:0043484)|RNA interference (GO:0016246)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation repressor activity, nucleic acid binding (GO:0000900)			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						AGCTTGGGCCGAAACAGGATT	0.483																																					Pancreas(163;1949 1966 9906 43218 43785)	ENST00000395290.2																			0				central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						c.(1357-1359)tCg>tTg		CUGBP, Elav-like family member 1							181.0	149.0	160.0					11																	47493882		2201	4298	6499	SO:0001583	missense	10658				embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding	g.chr11:47493882G>A	U63289	CCDS7938.1, CCDS7939.1, CCDS31482.1, CCDS53622.1, CCDS53623.1	11p11	2013-02-12	2010-02-19	2010-02-19				"""RNA binding motif (RRM) containing"""	2549	protein-coding gene	gene with protein product	"""CUG RNA-binding protein"", ""nuclear polyadenylated RNA-binding protein, 50-kD"", ""bruno-like 2"", ""embryo deadenylation element binding protein"""	601074	"""CUG triplet repeat, RNA-binding protein 1"", ""CUG triplet repeat, RNA binding protein 1"""	CUGBP1		8948631, 9371827	Standard	NM_006560		Approved	CUG-BP, hNab50, BRUNOL2, NAB50, CUGBP, NAPOR, EDEN-BP	uc001nfl.3	Q92879		ENST00000358597.3:c.1361C>T	11.37:g.47493882G>A	ENSP00000351409:p.Ser454Leu					CELF1_ENST00000361904.3_Missense_Mutation_p.S451L|CELF1_ENST00000531165.1_Missense_Mutation_p.S482L|CELF1_ENST00000358597.3_Missense_Mutation_p.S454L|CELF1_ENST00000532048.1_Missense_Mutation_p.S480L|CELF1_ENST00000539455.1_5'UTR|CELF1_ENST00000395292.2_Missense_Mutation_p.S451L|CELF1_ENST00000310513.5_Missense_Mutation_p.S450L	p.S453L	NM_001025596.2|NM_001172640.1	NP_001020767.1|NP_001166111.1	Q92879	CELF1_HUMAN			12	1367	-			454			RRM 3.		B4E2U5|D3DQS0|F8W940|Q4LE52|Q9NP83|Q9NR06	Missense_Mutation	SNP	ENST00000358597.3	37	c.1358C>T	CCDS31482.1	.	.	.	.	.	.	.	.	.	.	G	33	5.258683	0.95368	.	.	ENSG00000149187	ENST00000395290;ENST00000358597;ENST00000395292;ENST00000310513;ENST00000361904;ENST00000531165;ENST00000532048	T;T;T;T;T;T;T	0.18502	2.21;2.21;2.21;2.21;2.21;2.21;2.21	5.83	5.83	0.93111	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.123776	0.56097	D	0.000028	T	0.51941	0.1704	M	0.89095	3.005	0.80722	D	1	P;P;D;D;P;D	0.89917	0.818;0.818;0.998;1.0;0.818;0.996	B;B;D;D;B;D	0.79108	0.17;0.17;0.968;0.992;0.17;0.981	T	0.58346	-0.7652	10	0.87932	D	0	-5.7382	20.1208	0.97960	0.0:0.0:1.0:0.0	.	453;482;480;450;451;454	F8W940;G5EA30;Q92879-4;Q92879-2;Q92879-3;Q92879	.;.;.;.;.;CELF1_HUMAN	L	453;454;451;450;451;482;480	ENSP00000378705:S453L;ENSP00000351409:S454L;ENSP00000378706:S451L;ENSP00000308386:S450L;ENSP00000354639:S451L;ENSP00000436864:S482L;ENSP00000435926:S480L	ENSP00000308386:S450L	S	-	2	0	CELF1	47450458	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.009000	0.88606	2.758000	0.94735	0.655000	0.94253	TCG		0.483	CELF1-024	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398352.1	NM_006560		4	145	0	0	0	1	0	4	145				
KIF13A	63971	broad.mit.edu	37	6	17855689	17855689	+	Missense_Mutation	SNP	C	C	T			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr6:17855689C>T	ENST00000259711.6	-	6	578	c.473G>A	c.(472-474)cGg>cAg	p.R158Q	KIF13A_ENST00000378816.5_Missense_Mutation_p.R158Q|KIF13A_ENST00000378826.2_Missense_Mutation_p.R158Q|KIF13A_ENST00000378843.2_Missense_Mutation_p.R158Q|KIF13A_ENST00000378814.5_Missense_Mutation_p.R158Q	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	158	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TAAAAGATCCCGAACTTTCTC	0.338																																						ENST00000378814.5																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(472-474)cGg>cAg		kinesin family member 13A							65.0	67.0	66.0					6																	17855689		1800	4068	5868	SO:0001583	missense	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17855689C>T	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.473G>A	6.37:g.17855689C>T	ENSP00000259711:p.Arg158Gln					KIF13A_ENST00000378843.2_Missense_Mutation_p.R158Q|KIF13A_ENST00000259711.6_Missense_Mutation_p.R158Q|KIF13A_ENST00000378816.5_Missense_Mutation_p.R158Q|KIF13A_ENST00000378826.2_Missense_Mutation_p.R158Q	p.R158Q	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		6	472	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	158			Kinesin-motor.		A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	37	c.473G>A	CCDS47381.1	.	.	.	.	.	.	.	.	.	.	C	37	6.011955	0.97200	.	.	ENSG00000137177	ENST00000378814;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	D;D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48;-2.48	5.86	5.86	0.93980	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.93867	0.8038	M	0.71871	2.18	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.85130	0.962;0.997;0.957;0.997	D	0.93551	0.6886	10	0.72032	D	0.01	.	20.1802	0.98196	0.0:1.0:0.0:0.0	.	158;158;158;158	Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.;.;KI13A_HUMAN;.	Q	158	ENSP00000368091:R158Q;ENSP00000259711:R158Q;ENSP00000368103:R158Q;ENSP00000368120:R158Q;ENSP00000368093:R158Q	ENSP00000259711:R158Q	R	-	2	0	KIF13A	17963668	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.818000	0.86416	2.777000	0.95525	0.655000	0.94253	CGG		0.338	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			3	59	0	0	0	1	0	3	59				
ATOH1	474	broad.mit.edu	37	4	94750559	94750559	+	Missense_Mutation	SNP	G	G	A			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr4:94750559G>A	ENST00000306011.3	+	1	518	c.482G>A	c.(481-483)cGg>cAg	p.R161Q		NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN	atonal homolog 1 (Drosophila)	161	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				auditory receptor cell fate determination (GO:0042668)|auditory receptor cell fate specification (GO:0042667)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|cerebral cortex development (GO:0021987)|inner ear morphogenesis (GO:0042472)|negative regulation of apoptotic process (GO:0043066)|neuron migration (GO:0001764)|positive regulation of auditory receptor cell differentiation (GO:0045609)|positive regulation of neuron differentiation (GO:0045666)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		AAGCAGAGACGGCTAGCAGCC	0.617																																						ENST00000306011.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(481-483)cGg>cAg		atonal homolog 1 (Drosophila)							43.0	45.0	44.0					4																	94750559		2202	4300	6502	SO:0001583	missense	474				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:94750559G>A	U61148	CCDS3638.1	4q22	2013-05-21			ENSG00000172238	ENSG00000172238		"""Basic helix-loop-helix proteins"""	797	protein-coding gene	gene with protein product		601461				8872459	Standard	NM_005172		Approved	HATH1, MATH-1, Math1, bHLHa14	uc003hta.1	Q92858	OTTHUMG00000130972	ENST00000306011.3:c.482G>A	4.37:g.94750559G>A	ENSP00000302216:p.Arg161Gln						p.R161Q	NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)	1	518	+		Hepatocellular(203;0.114)	161					Q14CT9	Missense_Mutation	SNP	ENST00000306011.3	37	c.482G>A	CCDS3638.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.704185	0.88924	.	.	ENSG00000172238	ENST00000306011	D	0.99143	-5.48	4.41	4.41	0.53225	Helix-loop-helix DNA-binding (4);	0.000000	0.64402	D	0.000001	D	0.99492	0.9819	H	0.95574	3.69	0.58432	D	0.999991	D	0.89917	1.0	D	0.87578	0.998	D	0.98070	1.0398	10	0.87932	D	0	-17.4006	15.9665	0.79974	0.0:0.0:1.0:0.0	.	161	Q92858	ATOH1_HUMAN	Q	161	ENSP00000302216:R161Q	ENSP00000302216:R161Q	R	+	2	0	ATOH1	94969582	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.127000	0.77210	2.291000	0.77112	0.549000	0.68633	CGG		0.617	ATOH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253585.1	NM_005172		29	26	0	0	0	1	0	29	26				
ZNF408	79797	broad.mit.edu	37	11	46726592	46726592	+	Missense_Mutation	SNP	C	C	T			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr11:46726592C>T	ENST00000311764.2	+	5	1572	c.1342C>T	c.(1342-1344)Cgc>Tgc	p.R448C		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	448					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGCCTTTGCCCGCCGGCCCTC	0.672																																					Pancreas(79;698 1390 6545 18745 34127)|Esophageal Squamous(120;1014 1625 12837 24601 49525)	ENST00000311764.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1342-1344)Cgc>Tgc		zinc finger protein 408							43.0	43.0	43.0					11																	46726592		2201	4299	6500	SO:0001583	missense	79797				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding	g.chr11:46726592C>T	AF346626	CCDS7923.1	11p11.2	2008-02-05			ENSG00000175213	ENSG00000175213		"""Zinc fingers, C2H2-type"""	20041	protein-coding gene	gene with protein product						15231747	Standard	NM_024741		Approved	FLJ12827	uc010rgw.2	Q9H9D4	OTTHUMG00000166568	ENST00000311764.2:c.1342C>T	11.37:g.46726592C>T	ENSP00000309606:p.Arg448Cys						p.R448C	NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN			5	1572	+			448						Missense_Mutation	SNP	ENST00000311764.2	37	c.1342C>T	CCDS7923.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.317289	0.81469	.	.	ENSG00000175213	ENST00000311764	T	0.12672	2.66	5.68	4.76	0.60689	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45361	D	0.000373	T	0.13415	0.0325	L	0.31526	0.94	0.58432	D	0.999997	D;D	0.63880	0.993;0.993	P;P	0.46208	0.507;0.507	T	0.00722	-1.1594	10	0.48119	T	0.1	-41.1076	12.7089	0.57078	0.0:0.8702:0.0:0.1298	.	440;448	B4DXY4;Q9H9D4	.;ZN408_HUMAN	C	448	ENSP00000309606:R448C	ENSP00000309606:R448C	R	+	1	0	ZNF408	46683168	0.970000	0.33590	1.000000	0.80357	0.965000	0.64279	2.363000	0.44178	2.838000	0.97847	0.563000	0.77884	CGC		0.672	ZNF408-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390485.2	NM_024741		9	80	0	0	0	1	0	9	80				
MED24	9862	broad.mit.edu	37	17	38182576	38182576	+	Silent	SNP	A	A	C			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr17:38182576A>C	ENST00000394128.2	-	19	1899	c.1818T>G	c.(1816-1818)acT>acG	p.T606T	SNORD124_ENST00000459577.1_RNA|MED24_ENST00000394127.2_Silent_p.T593T|MED24_ENST00000501516.3_Silent_p.T625T|MED24_ENST00000356271.3_Silent_p.T593T|MED24_ENST00000394126.1_Silent_p.T631T	NM_014815.3	NP_055630.2	O75448	MED24_HUMAN	mediator complex subunit 24	606					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					TGATGTTATCAGTGATTTTCT	0.557																																						ENST00000394126.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(1891-1893)acT>acG		mediator complex subunit 24							149.0	133.0	138.0					17																	38182576		2203	4300	6503	SO:0001819	synonymous_variant	9862				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:38182576A>C	AF055995	CCDS11359.1, CCDS42315.1	17q21.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000008838	ENSG00000008838			22963	protein-coding gene	gene with protein product		607000	"""thyroid hormone receptor associated protein 4"", ""cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa"""	THRAP4, CRSP4			Standard	NM_001079518		Approved	TRAP100, KIAA0130, DRIP100, CRSP100	uc002htt.3	O75448	OTTHUMG00000133329	ENST00000394128.2:c.1818T>G	17.37:g.38182576A>C						MED24_ENST00000394128.2_Silent_p.T606T|MED24_ENST00000394127.2_Silent_p.T593T|MED24_ENST00000356271.3_Silent_p.T593T|MED24_ENST00000501516.3_Silent_p.T625T	p.T631T			O75448	MED24_HUMAN			18	2311	-	Colorectal(19;0.000442)		606					A8K4S5|B3KMR9|Q14143|Q9NNY5	Silent	SNP	ENST00000394128.2	37	c.1893T>G	CCDS11359.1																																																																																				0.557	MED24-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257147.2	NM_014815		39	63	0	0	0	1	0	39	63				
EFCC1	79825	broad.mit.edu	37	3	128758620	128758620	+	Silent	SNP	T	T	C			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr3:128758620T>C	ENST00000480450.1	+	8	1726	c.1726T>C	c.(1726-1728)Ttg>Ctg	p.L576L	EFCC1_ENST00000436022.2_Silent_p.L139L			Q9HA90	EFCC1_HUMAN	EF-hand and coiled-coil domain containing 1	576							calcium ion binding (GO:0005509)										CTGCCAGCTGTTGCGGAGACA	0.667																																						ENST00000436022.2																			0											c.(415-417)Ttg>Ctg		EF-hand and coiled-coil domain containing 1							54.0	51.0	52.0					3																	128758620		2203	4300	6503	SO:0001819	synonymous_variant	79825							g.chr3:128758620T>C	AK022119	CCDS3054.1, CCDS3054.2	3q21.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000114654	ENSG00000114654		"""EF-hand domain containing"""	25692	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 73"", ""coiled-coil domain containing 48"""	C3orf73, CCDC48			Standard	NM_024768		Approved	FLJ12057	uc011bkt.2	Q9HA90	OTTHUMG00000158996	ENST00000480450.1:c.1726T>C	3.37:g.128758620T>C						EFCC1_ENST00000480450.1_Silent_p.L576L	p.L139L	NM_024768.2	NP_079044.2					8	1726	+								A8MYE2	Silent	SNP	ENST00000480450.1	37	c.415T>C	CCDS3054.2																																																																																				0.667	EFCC1-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352832.1	NM_024768		6	85	0	0	0	1	0	6	85				
ALMS1	7840	broad.mit.edu	37	2	73828485	73828485	+	Silent	SNP	C	C	T	rs370981817		TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr2:73828485C>T	ENST00000264448.6	+	19	12144	c.12033C>T	c.(12031-12033)gaC>gaT	p.D4011D	ALMS1_ENST00000464408.2_3'UTR|ALMS1_ENST00000409009.1_Silent_p.D3969D	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	4011					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AGCACCTGGACGGTCGGGGCT	0.592																																						ENST00000264448.6																			0				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(12031-12033)gaC>gaT		Alstrom syndrome 1		C		0,4396		0,0,2198	51.0	59.0	57.0		12033	-5.9	0.0	2		57	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	ALMS1	NM_015120.4		0,1,6495	TT,TC,CC		0.0116,0.0,0.0077		4011/4168	73828485	1,12991	2198	4298	6496	SO:0001819	synonymous_variant	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73828485C>T	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.12033C>T	2.37:g.73828485C>T						ALMS1_ENST00000409009.1_Silent_p.D3969D|ALMS1_ENST00000464408.2_3'UTR	p.D4011D	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN			19	12144	+			4011					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Silent	SNP	ENST00000264448.6	37	c.12033C>T	CCDS42697.1																																																																																				0.592	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		34	52	0	0	0	1	0	34	52				
TLR10	81793	broad.mit.edu	37	4	38776169	38776169	+	Missense_Mutation	SNP	G	G	A	rs200661388		TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr4:38776169G>A	ENST00000308973.4	-	4	1648	c.1043C>T	c.(1042-1044)aCg>aTg	p.T348M	TLR10_ENST00000507953.1_5'Flank|TLR10_ENST00000508334.1_Missense_Mutation_p.T348M|TLR10_ENST00000506111.1_Missense_Mutation_p.T348M|TLR10_ENST00000361424.2_Missense_Mutation_p.T348M	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	348					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of inflammatory response (GO:0050729)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						TTGGAATTTCGTAGGATAATT	0.333																																						ENST00000308973.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						c.(1042-1044)aCg>aTg		toll-like receptor 10		G	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	0,4404		0,0,2202	88.0	91.0	90.0		1043,1043,1043,1001,1043	0.8	0.0	4		90	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense,missense,missense	TLR10	NM_001017388.2,NM_001195106.1,NM_001195107.1,NM_001195108.1,NM_030956.3	81,81,81,81,81	0,2,6500	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	348/812,348/812,348/812,334/798,348/812	38776169	2,13002	2202	4300	6502	SO:0001583	missense	81793				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity	g.chr4:38776169G>A	AF296673	CCDS3445.1	4p14	2009-11-23			ENSG00000174123	ENSG00000174123		"""CD molecules"""	15634	protein-coding gene	gene with protein product		606270				11267672	Standard	NM_030956		Approved	CD290	uc003gtk.3	Q9BXR5	OTTHUMG00000128578	ENST00000308973.4:c.1043C>T	4.37:g.38776169G>A	ENSP00000308925:p.Thr348Met					TLR10_ENST00000361424.2_Missense_Mutation_p.T348M|TLR10_ENST00000508334.1_Missense_Mutation_p.T348M|TLR10_ENST00000506111.1_Missense_Mutation_p.T348M	p.T348M	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN			4	1648	-			348					A8K7L1|B3Y668|D1CS21|D1CS22|Q32MI7|Q32MI8|Q5FWG4|Q6UXL3	Missense_Mutation	SNP	ENST00000308973.4	37	c.1043C>T	CCDS3445.1	.	.	.	.	.	.	.	.	.	.	G	3.712	-0.059278	0.07317	0.0	2.33E-4	ENSG00000174123	ENST00000308973;ENST00000506111;ENST00000361424;ENST00000508334	T;T;T;T	0.27104	1.69;1.69;1.69;1.69	4.99	0.793	0.18632	.	0.751284	0.10739	N	0.639705	T	0.16811	0.0404	L	0.36672	1.1	0.09310	N	1	B	0.21309	0.054	B	0.17433	0.018	T	0.33471	-0.9867	10	0.87932	D	0	.	1.5073	0.02489	0.2057:0.2897:0.3624:0.1422	.	348	Q9BXR5	TLR10_HUMAN	M	348	ENSP00000308925:T348M;ENSP00000421483:T348M;ENSP00000354459:T348M;ENSP00000424923:T348M	ENSP00000308925:T348M	T	-	2	0	TLR10	38452564	0.000000	0.05858	0.003000	0.11579	0.317000	0.28152	-0.099000	0.11007	0.099000	0.17552	-0.237000	0.12165	ACG		0.333	TLR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250430.1			38	46	0	0	0	1	0	38	46				
TNRC18	84629	broad.mit.edu	37	7	5352528	5352530	+	In_Frame_Del	DEL	GAG	GAG	-	rs376153797		TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr7:5352528_5352530delGAG	ENST00000430969.1	-	27	8340_8342	c.7992_7994delCTC	c.(7990-7995)tcctct>tct	p.2664_2665SS>S	TNRC18_ENST00000399537.4_In_Frame_Del_p.2664_2665SS>S	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2664	Ser-rich.						chromatin binding (GO:0003682)	p.S2671delS(2)|p.P1177delP(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		agaggaggaagaggaggaggagg	0.64																																						ENST00000399537.4																			3	Deletion - In frame(3)	p.S2671delS(2)|p.P1177delP(1)	prostate(3)	central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(7990-7995)tct>tc		trinucleotide repeat containing 18				64,3888		3,58,1915						-4.8	0.9			7	110,7474		3,104,3685	no	coding	TNRC18	NM_001080495.2		6,162,5600	A1A1,A1R,RR		1.4504,1.6194,1.5083				174,11362				SO:0001651	inframe_deletion	84629						DNA binding	g.chr7:5352528_5352530delGAG	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.7992_7994delCTC	7.37:g.5352537_5352539delGAG	ENSP00000395538:p.Ser2671del					TNRC18_ENST00000430969.1_In_Frame_Del_p.SS2670del	p.SS2670del			O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	27	8340_8342	-		Ovarian(82;0.142)	2670			Ser-rich.		A8MX41|Q96JH1|Q96K91	In_Frame_Del	DEL	ENST00000430969.1	37	c.7992_7994delCTC	CCDS47534.1																																																																																				0.640	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				2	4						2	4	---	---	---	---
TPTE2P6	374491	broad.mit.edu	37	13	25157747	25157748	+	RNA	INS	-	-	T	rs74332804		TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr13:25157747_25157748insT	ENST00000453498.1	+	0	554				TPTE2P6_ENST00000440905.1_RNA																							AAAATGGGAGGTTTTTTTAGGG	0.411																																						ENST00000453498.1																			0																																																			0							g.chr13:25157747_25157748insT																													13.37:g.25157754_25157754dupT														0	554	+									RNA	INS	ENST00000453498.1	37																																																																																						0.411	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			2	4						2	4	---	---	---	---
