#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
SLC35F5	80255	broad.mit.edu	37	2	114480706	114480706	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr2:114480706A>G	ENST00000245680.2	-	13	1729	c.1316T>C	c.(1315-1317)aTa>aCa	p.I439T	SLC35F5_ENST00000470204.2_5'UTR|MIR4782_ENST00000577987.1_RNA	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	439					transport (GO:0006810)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						GTCAGCTATTATGGACAGAGG	0.308																																						ENST00000245680.2																			0				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						c.(1315-1317)aTa>aCa		solute carrier family 35, member F5							109.0	116.0	113.0					2																	114480706		2203	4300	6503	SO:0001583	missense	80255				transport	integral to membrane		g.chr2:114480706A>G	AF529364	CCDS2119.1	2q14.1	2013-05-22			ENSG00000115084	ENSG00000115084		"""Solute carriers"""	23617	protein-coding gene	gene with protein product							Standard	XM_005263799		Approved	FLJ22004	uc002tku.1	Q8WV83	OTTHUMG00000131361	ENST00000245680.2:c.1316T>C	2.37:g.114480706A>G	ENSP00000245680:p.Ile439Thr					SLC35F5_ENST00000470204.2_5'UTR	p.I439T	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN			13	1729	-			439					Q9H6P8|Q9H7D8	Missense_Mutation	SNP	ENST00000245680.2	37	c.1316T>C	CCDS2119.1	.	.	.	.	.	.	.	.	.	.	A	18.04	3.533758	0.64972	.	.	ENSG00000115084	ENST00000245680;ENST00000409106	T;T	0.47869	0.83;0.83	5.28	5.28	0.74379	.	0.174880	0.48286	D	0.000189	T	0.41858	0.1177	L	0.42245	1.32	0.80722	D	1	B	0.33694	0.421	B	0.30646	0.118	T	0.41858	-0.9485	10	0.56958	D	0.05	-11.0929	15.5626	0.76262	1.0:0.0:0.0:0.0	.	439	Q8WV83	S35F5_HUMAN	T	439;433	ENSP00000245680:I439T;ENSP00000386754:I433T	ENSP00000245680:I439T	I	-	2	0	SLC35F5	114197176	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.669000	0.91163	2.147000	0.66899	0.477000	0.44152	ATA		0.308	SLC35F5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254150.1	NM_025181		36	89	0	0	0	1	0	36	89				
EPHA6	285220	broad.mit.edu	37	3	96706583	96706583	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr3:96706583C>T	ENST00000389672.5	+	3	898	c.860C>T	c.(859-861)gCg>gTg	p.A287V	EPHA6_ENST00000470610.2_Missense_Mutation_p.A287V|EPHA6_ENST00000542517.1_Missense_Mutation_p.A193V	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	193						integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GACATTGGGGCGTGCATTGCC	0.458																																						ENST00000389672.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						c.(859-861)gCg>gTg		EPH receptor A6							231.0	241.0	238.0					3																	96706583		1955	4185	6140	SO:0001583	missense	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:96706583C>T	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.860C>T	3.37:g.96706583C>T	ENSP00000374323:p.Ala287Val					EPHA6_ENST00000542517.1_Missense_Mutation_p.A193V|EPHA6_ENST00000470610.2_Missense_Mutation_p.A287V	p.A287V	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN			3	898	+			192					D6RAL5	Missense_Mutation	SNP	ENST00000389672.5	37	c.860C>T	CCDS46876.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.345000	0.82022	.	.	ENSG00000080224	ENST00000470610;ENST00000389672;ENST00000542517	T;T;T	0.05855	3.38;3.38;3.38	5.48	5.48	0.80851	.	0.000000	0.64402	U	0.000003	T	0.38108	0.1028	H	0.94658	3.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.53394	-0.8445	10	0.87932	D	0	.	18.3424	0.90309	0.0:1.0:0.0:0.0	.	287;287	B3KS12;E7EU71	.;.	V	287;287;193	ENSP00000420598:A287V;ENSP00000374323:A287V;ENSP00000439758:A193V	ENSP00000374323:A287V	A	+	2	0	EPHA6	98189273	1.000000	0.71417	0.993000	0.49108	0.641000	0.38312	7.818000	0.86416	2.554000	0.86153	0.655000	0.94253	GCG		0.458	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448		6	301	0	0	0	1	0	6	301				
OTOF	9381	broad.mit.edu	37	2	26688866	26688866	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr2:26688866G>A	ENST00000272371.2	-	37	4705	c.4579C>T	c.(4579-4581)Cgc>Tgc	p.R1527C	OTOF_ENST00000402415.3_Missense_Mutation_p.R837C|OTOF_ENST00000339598.3_Missense_Mutation_p.R760C|OTOF_ENST00000338581.6_Missense_Mutation_p.R760C|OTOF_ENST00000403946.3_Missense_Mutation_p.R1527C	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1527	C2 4. {ECO:0000255|PROSITE- ProRule:PRU00041}.				membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCTTGTCGCGGATGTCAGTC	0.587																																					GBM(102;732 1451 20652 24062 31372)	ENST00000272371.2																			0				NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106						c.(4579-4581)Cgc>Tgc		otoferlin							236.0	186.0	203.0					2																	26688866		2203	4300	6503	SO:0001583	missense	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26688866G>A	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.4579C>T	2.37:g.26688866G>A	ENSP00000272371:p.Arg1527Cys					OTOF_ENST00000339598.3_Missense_Mutation_p.R760C|OTOF_ENST00000338581.6_Missense_Mutation_p.R760C|OTOF_ENST00000402415.3_Missense_Mutation_p.R837C|OTOF_ENST00000403946.3_Missense_Mutation_p.R1527C	p.R1527C	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			37	4705	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1527			C2 4.		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	c.4579C>T	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.548753	0.65311	.	.	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	T;T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55;-0.55	5.58	2.71	0.32032	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.256266	0.38897	N	0.001537	T	0.70675	0.3251	L	0.37561	1.115	0.47949	D	0.99955	P;D;D;D	0.76494	0.933;0.959;0.999;0.959	P;P;P;P	0.59424	0.627;0.764;0.857;0.764	T	0.68322	-0.5439	10	0.56958	D	0.05	-4.6363	8.5908	0.33686	0.0737:0.0:0.3838:0.5425	.	1527;760;837;760	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	C	760;760;837;1527;1527	ENSP00000345137:R760C;ENSP00000344521:R760C;ENSP00000383906:R837C;ENSP00000272371:R1527C;ENSP00000385255:R1527C	ENSP00000272371:R1527C	R	-	1	0	OTOF	26542370	1.000000	0.71417	0.899000	0.35326	0.988000	0.76386	3.955000	0.56715	0.288000	0.22398	0.555000	0.69702	CGC		0.587	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			9	81	0	0	0	1	0	9	81				
AUTS2	26053	broad.mit.edu	37	7	70227916	70227916	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr7:70227916T>C	ENST00000342771.4	+	7	1124	c.803T>C	c.(802-804)gTc>gCc	p.V268A	AUTS2_ENST00000406775.2_Missense_Mutation_p.V268A	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	268										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GGGCCGATTGTCCCCAAGATA	0.537																																						ENST00000342771.4																			0				breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50						c.(802-804)gTc>gCc		autism susceptibility candidate 2							180.0	180.0	180.0					7																	70227916		2203	4300	6503	SO:0001583	missense	26053							g.chr7:70227916T>C	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.803T>C	7.37:g.70227916T>C	ENSP00000344087:p.Val268Ala					AUTS2_ENST00000406775.2_Missense_Mutation_p.V268A	p.V268A	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	7	1124	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)	268					A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	ENST00000342771.4	37	c.803T>C	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	T	17.15	3.316886	0.60524	.	.	ENSG00000158321	ENST00000406775;ENST00000342771	T;T	0.35421	1.31;1.34	4.94	4.94	0.65067	.	0.122951	0.56097	D	0.000037	T	0.30103	0.0754	N	0.25890	0.77	0.80722	D	1	P;P	0.41673	0.759;0.759	B;B	0.42851	0.4;0.4	T	0.04029	-1.0983	9	.	.	.	-21.9636	14.7442	0.69477	0.0:0.0:0.0:1.0	.	268;268	Q8WXX7-2;Q8WXX7	.;AUTS2_HUMAN	A	268	ENSP00000385263:V268A;ENSP00000344087:V268A	.	V	+	2	0	AUTS2	69865852	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	5.220000	0.65267	2.069000	0.61940	0.455000	0.32223	GTC		0.537	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			18	282	0	0	0	1	0	18	282				
MUC4	4585	broad.mit.edu	37	3	195515449	195515449	+	Missense_Mutation	SNP	A	A	T	rs200672669	byFrequency	TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr3:195515449A>T	ENST00000463781.3	-	2	3461	c.3002T>A	c.(3001-3003)gTa>gAa	p.V1001E	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.V1001E	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	425	Ser-rich.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.V1001A(1)|p.V1001E(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACCTGTGGATACTGAGGAAGC	0.587																																						ENST00000463781.3																			2	Substitution - Missense(2)	p.V1001A(1)|p.V1001E(1)	prostate(1)|endometrium(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(3001-3003)gTa>gAa		mucin 4, cell surface associated							45.0	36.0	39.0					3																	195515449		2193	4257	6450	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195515449A>T	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.3002T>A	3.37:g.195515449A>T	ENSP00000417498:p.Val1001Glu					MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.V1001E	p.V1001E	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	3461	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	1006			Ser-rich.		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.3002T>A	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	A	7.806	0.714656	0.15306	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.37752	1.19;1.18	1.24	-2.48	0.06423	.	.	.	.	.	T	0.13543	0.0328	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.01281	0.0	T	0.24261	-1.0165	8	.	.	.	.	2.7997	0.05411	0.2821:0.0:0.4902:0.2277	.	1001	E7ESK3	.	E	1001	ENSP00000417498:V1001E;ENSP00000420243:V1001E	.	V	-	2	0	MUC4	196999844	.	.	0.000000	0.03702	0.127000	0.20565	.	.	-0.712000	0.04988	0.055000	0.15244	GTA		0.587	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		4	4	0	0	0	1	0	4	4				
MUC16	94025	broad.mit.edu	37	19	9075050	9075050	+	Silent	SNP	T	T	A			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr19:9075050T>A	ENST00000397910.4	-	3	12599	c.12396A>T	c.(12394-12396)tcA>tcT	p.S4132S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4134	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGTCTTCTCTGAGTATGTAA	0.517																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(12394-12396)tcA>tcT		mucin 16, cell surface associated							130.0	122.0	125.0					19																	9075050		2053	4189	6242	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9075050T>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.12396A>T	19.37:g.9075050T>A							p.S4132S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	12599	-			4134			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.12396A>T	CCDS54212.1																																																																																				0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		10	111	0	0	0	1	0	10	111				
DNAH11	8701	broad.mit.edu	37	7	21640731	21640731	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr7:21640731T>C	ENST00000409508.3	+	17	3390	c.3359T>C	c.(3358-3360)tTg>tCg	p.L1120S	DNAH11_ENST00000328843.6_Missense_Mutation_p.L1120S	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1120	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AAAGTGAGCTTGTTAACCATA	0.353									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(3358-3360)tTg>tCg		dynein, axonemal, heavy chain 11							125.0	118.0	120.0					7																	21640731		1863	4104	5967	SO:0001583	missense	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21640731T>C	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.3359T>C	7.37:g.21640731T>C	ENSP00000475939:p.Leu1120Ser					DNAH11_ENST00000409508.3_Missense_Mutation_p.L1120S	p.L1120S			Q96DT5	DYH11_HUMAN			17	3390	+			1120			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.3359T>C		.	.	.	.	.	.	.	.	.	.	T	21.4	4.137856	0.77775	.	.	ENSG00000105877	ENST00000328843	T	0.36878	1.23	5.56	5.56	0.83823	.	0.327214	0.28307	N	0.015836	T	0.53916	0.1826	.	.	.	0.54753	D	0.999982	D	0.56035	0.974	P	0.55785	0.784	T	0.59059	-0.7525	9	0.87932	D	0	.	15.3768	0.74610	0.0:0.0:0.0:1.0	.	1120	Q96DT5	DYH11_HUMAN	S	1120	ENSP00000330671:L1120S	ENSP00000330671:L1120S	L	+	2	0	DNAH11	21607256	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	7.483000	0.81158	2.127000	0.65507	0.533000	0.62120	TTG		0.353	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		13	36	0	0	0	1	0	13	36				
APOB	338	broad.mit.edu	37	2	21241933	21241933	+	Missense_Mutation	SNP	C	C	T	rs149357946	byFrequency	TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr2:21241933C>T	ENST00000233242.1	-	20	3179	c.3052G>A	c.(3052-3054)Gca>Aca	p.A1018T		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1018					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCATAGGTTGCGCTGACAGAA	0.453													C|||	2	0.000399361	0.0	0.0014	5008	,	,		20127	0.001		0.0	False		,,,				2504	0.0					ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(3052-3054)Gca>Aca		apolipoprotein B	Atorvastatin(DB01076)						146.0	134.0	138.0					2																	21241933		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21241933C>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.3052G>A	2.37:g.21241933C>T	ENSP00000233242:p.Ala1018Thr						p.A1018T	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			20	3179	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1018					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.3052G>A	CCDS1703.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	18.64	3.666931	0.67814	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.14893	2.47	4.3	4.3	0.51218	Lipid transport protein, beta-sheet shell (1);Lipid transport, open beta-sheet (1);Vitellinogen, open beta-sheet, subdomain 2 (1);	0.259980	0.26609	N	0.023421	T	0.25531	0.0621	L	0.38531	1.155	0.51767	D	0.99993	D	0.63046	0.992	P	0.55222	0.771	T	0.01692	-1.1294	10	0.28530	T	0.3	.	17.6365	0.88123	0.0:1.0:0.0:0.0	.	1018	P04114	APOB_HUMAN	T	1018	ENSP00000233242:A1018T	ENSP00000233242:A1018T	A	-	1	0	APOB	21095438	0.286000	0.24305	0.325000	0.25375	0.797000	0.45037	1.125000	0.31332	2.325000	0.78763	0.460000	0.39030	GCA		0.453	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			41	77	0	0	0	1	0	41	77				
ABCG5	64240	broad.mit.edu	37	2	44050052	44050052	+	Silent	SNP	G	G	A	rs139361486	byFrequency	TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr2:44050052G>A	ENST00000260645.1	-	10	1486	c.1347C>T	c.(1345-1347)agC>agT	p.S449S	ABCG5_ENST00000405322.1_Silent_p.S278S|ABCG5_ENST00000543989.1_Silent_p.S54S	NM_022436.2	NP_071881.1	Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	449	ABC transmembrane type-2.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	TCTCCTGGTCGCTGACAGCTC	0.567													g|||	5	0.000998403	0.0	0.0	5008	,	,		14216	0.004		0.0	False		,,,				2504	0.001					ENST00000543989.1																			0				breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(160-162)agC>agT		ATP-binding cassette, sub-family G (WHITE), member 5				0,4406		0,0,2203	74.0	50.0	58.0		1347	-5.8	0.8	2	dbSNP_134	58	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	ABCG5	NM_022436.2		0,3,6500	AA,AG,GG		0.0349,0.0,0.0231		449/652	44050052	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	64240				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44050052G>A	T93792	CCDS1814.1	2p21	2012-03-14	2008-07-31		ENSG00000138075	ENSG00000138075		"""ATP binding cassette transporters / subfamily G"""	13886	protein-coding gene	gene with protein product	"""sterolin 1"""	605459				11099417, 11452359	Standard	NM_022436		Approved	STSL	uc002rtn.3	Q9H222	OTTHUMG00000128758	ENST00000260645.1:c.1347C>T	2.37:g.44050052G>A						ABCG5_ENST00000405322.1_Silent_p.S278S|ABCG5_ENST00000260645.1_Silent_p.S449S	p.S54S			Q9H222	ABCG5_HUMAN			6	1867	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	449			ABC transporter.		Q2T9G2|Q96QZ2|Q96QZ3	Silent	SNP	ENST00000260645.1	37	c.162C>T	CCDS1814.1																																																																																				0.567	ABCG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250675.1	NM_022436		15	23	0	0	0	1	0	15	23				
CNTN2	6900	broad.mit.edu	37	1	205042816	205042816	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr1:205042816C>T	ENST00000331830.4	+	23	3330	c.3046C>T	c.(3046-3048)Cgc>Tgc	p.R1016C		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	1016					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CATGGCAGTCCGCCCAGCACC	0.607																																					Melanoma(183;2548 2817 37099 41192)	ENST00000331830.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54						c.(3046-3048)Cgc>Tgc		contactin 2 (axonal)							126.0	99.0	108.0					1																	205042816		2203	4300	6503	SO:0001583	missense	6900				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	g.chr1:205042816C>T	X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.3046C>T	1.37:g.205042816C>T	ENSP00000330633:p.Arg1016Cys						p.R1016C	NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		23	3330	+	all_cancers(21;0.144)|Breast(84;0.0437)		1016					P78432|Q5T054	Missense_Mutation	SNP	ENST00000331830.4	37	c.3046C>T	CCDS1449.1	.	.	.	.	.	.	.	.	.	.	C	10.26	1.301901	0.23736	.	.	ENSG00000184144	ENST00000331830	T	0.61859	0.07	4.9	-8.38	0.00973	.	0.812561	0.09709	U	0.765980	T	0.40839	0.1133	L	0.47716	1.5	0.21064	N	0.999794	B	0.02656	0.0	B	0.01281	0.0	T	0.28038	-1.0056	10	0.46703	T	0.11	.	6.6956	0.23197	0.2658:0.4631:0.0:0.2712	.	1016	Q02246	CNTN2_HUMAN	C	1016	ENSP00000330633:R1016C	ENSP00000330633:R1016C	R	+	1	0	CNTN2	203309439	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.917000	0.04025	-1.679000	0.01452	-0.258000	0.10820	CGC		0.607	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	NM_005076		8	69	0	0	0	1	0	8	69				
HIRA	7290	broad.mit.edu	37	22	19365445	19365445	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr22:19365445C>G	ENST00000263208.5	-	14	1816	c.1560G>C	c.(1558-1560)gaG>gaC	p.E520D	HIRA_ENST00000546308.1_Missense_Mutation_p.E476D|HIRA_ENST00000340170.4_Missense_Mutation_p.E520D|HIRA_ENST00000541063.1_Missense_Mutation_p.E476D	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	520	Interaction with CCNA1.				anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					CCACCACAGGCTCTGTGCAAG	0.582																																						ENST00000263208.5																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37						c.(1558-1560)gaG>gaC		histone cell cycle regulator							88.0	96.0	93.0					22																	19365445		2203	4300	6503	SO:0001583	missense	7290				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr22:19365445C>G	X75296	CCDS13759.1	22q11.2	2013-05-03	2013-05-03		ENSG00000100084	ENSG00000100084		"""WD repeat domain containing"""	4916	protein-coding gene	gene with protein product	"""DiGeorge critical region gene 1"""	600237	"""HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)"", ""HIR histone cell cycle regulation defective homolog A (S. cerevisiae)"""	TUPLE1		8111380, 7633437, 9731536	Standard	NM_003325		Approved	DGCR1, TUP1	uc002zpf.1	P54198	OTTHUMG00000150134	ENST00000263208.5:c.1560G>C	22.37:g.19365445C>G	ENSP00000263208:p.Glu520Asp					HIRA_ENST00000541063.1_Missense_Mutation_p.E476D|HIRA_ENST00000340170.4_Missense_Mutation_p.E520D|HIRA_ENST00000546308.1_Missense_Mutation_p.E476D	p.E520D	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN			14	1816	-	Colorectal(54;0.0993)		520			Interaction with CCNA1.		Q05BU9|Q8IXN2	Missense_Mutation	SNP	ENST00000263208.5	37	c.1560G>C	CCDS13759.1	.	.	.	.	.	.	.	.	.	.	C	12.39	1.923724	0.34002	.	.	ENSG00000100084	ENST00000340170;ENST00000263208;ENST00000541063;ENST00000539600;ENST00000546308	T;T;T;T	0.71817	-0.4;-0.6;-0.45;-0.41	5.28	2.09	0.27110	.	0.051755	0.85682	D	0.000000	T	0.46288	0.1385	N	0.11560	0.145	0.80722	D	1	B;B;B	0.24186	0.099;0.004;0.009	B;B;B	0.22753	0.041;0.009;0.005	T	0.16247	-1.0409	10	0.27785	T	0.31	-29.4496	7.8399	0.29393	0.0:0.6009:0.0:0.3991	rs34338566	476;520;520	F5H4M2;P54198-2;P54198	.;.;HIRA_HUMAN	D	520;520;476;29;476	ENSP00000345350:E520D;ENSP00000263208:E520D;ENSP00000446073:E476D;ENSP00000441870:E476D	ENSP00000263208:E520D	E	-	3	2	HIRA	17745445	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	0.734000	0.26101	0.368000	0.24481	0.655000	0.94253	GAG		0.582	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316488.2	NM_003325		82	154	0	0	0	1	0	82	154				
KNDC1	85442	broad.mit.edu	37	10	135024204	135024204	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr10:135024204A>G	ENST00000304613.3	+	21	3905	c.3884A>G	c.(3883-3885)gAc>gGc	p.D1295G	KNDC1_ENST00000368572.2_Missense_Mutation_p.D1297G			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1295	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		TTCCTCCTCGACCGCATCAAC	0.627																																						ENST00000304613.3																			0				NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60						c.(3883-3885)gAc>gGc		kinase non-catalytic C-lobe domain (KIND) containing 1							259.0	203.0	222.0					10																	135024204		2203	4300	6503	SO:0001583	missense	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135024204A>G	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.3884A>G	10.37:g.135024204A>G	ENSP00000304437:p.Asp1295Gly					KNDC1_ENST00000368572.2_Missense_Mutation_p.D1297G	p.D1295G			Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	21	3905	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	1295			N-terminal Ras-GEF.		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	c.3884A>G	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	A	15.96	2.987788	0.53934	.	.	ENSG00000171798	ENST00000304613;ENST00000368572	T;T	0.50277	0.75;0.75	3.77	3.77	0.43336	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.125321	0.50627	U	0.000108	T	0.48624	0.1510	L	0.60455	1.87	0.54753	D	0.999989	P	0.43578	0.811	P	0.45660	0.489	T	0.52268	-0.8598	10	0.56958	D	0.05	-30.352	10.7928	0.46443	1.0:0.0:0.0:0.0	.	1295	Q76NI1	VKIND_HUMAN	G	1295;1297	ENSP00000304437:D1295G;ENSP00000357561:D1297G	ENSP00000304437:D1295G	D	+	2	0	KNDC1	134874194	1.000000	0.71417	1.000000	0.80357	0.424000	0.31475	6.576000	0.74023	1.513000	0.48852	0.165000	0.16767	GAC		0.627	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		9	165	0	0	0	1	0	9	165				
RCBTB1	55213	broad.mit.edu	37	13	50134077	50134077	+	Missense_Mutation	SNP	T	T	C	rs147650879	byFrequency	TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr13:50134077T>C	ENST00000378302.2	-	5	681	c.421A>G	c.(421-423)Atg>Gtg	p.M141V	RCBTB1_ENST00000546015.1_Missense_Mutation_p.M141V|RCBTB1_ENST00000258646.3_Missense_Mutation_p.M141V	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1	141					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		GCCAGAGCCATTGAATGATGT	0.413																																						ENST00000378302.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16						c.(421-423)Atg>Gtg		regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1		T	VAL/MET	1,4405	2.1+/-5.4	0,1,2202	173.0	166.0	168.0		421	3.8	0.9	13	dbSNP_134	168	4,8596	3.7+/-12.6	0,4,4296	yes	missense	RCBTB1	NM_018191.3	21	0,5,6498	CC,CT,TT		0.0465,0.0227,0.0384	benign	141/532	50134077	5,13001	2203	4300	6503	SO:0001583	missense	55213				cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr13:50134077T>C	AF334406	CCDS9418.1	13q14	2013-01-08			ENSG00000136144	ENSG00000136144		"""BTB/POZ domain containing"""	18243	protein-coding gene	gene with protein product		607867				11306461	Standard	XM_005266441		Approved	FLJ10716, CLLD7, CLLL7	uc001vde.1	Q8NDN9	OTTHUMG00000016915	ENST00000378302.2:c.421A>G	13.37:g.50134077T>C	ENSP00000367552:p.Met141Val					RCBTB1_ENST00000546015.1_Missense_Mutation_p.M141V|RCBTB1_ENST00000258646.3_Missense_Mutation_p.M141V	p.M141V	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)	5	681	-		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	141					Q8IY29|Q969U9	Missense_Mutation	SNP	ENST00000378302.2	37	c.421A>G	CCDS9418.1	.	.	.	.	.	.	.	.	.	.	T	10.16	1.274660	0.23307	2.27E-4	4.65E-4	ENSG00000136144	ENST00000258646;ENST00000378302;ENST00000546015	D;D;D	0.83250	-1.7;-1.7;-1.7	5.08	3.85	0.44370	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.073009	0.85682	D	0.000000	T	0.58495	0.2126	N	0.01631	-0.79	0.45183	D	0.998194	B	0.06786	0.001	B	0.12837	0.008	T	0.48864	-0.8997	10	0.26408	T	0.33	-16.5273	9.5973	0.39582	0.2793:0.0:0.0:0.7207	.	141	Q8NDN9	RCBT1_HUMAN	V	141	ENSP00000258646:M141V;ENSP00000367552:M141V;ENSP00000443293:M141V	ENSP00000258646:M141V	M	-	1	0	RCBTB1	49032078	0.983000	0.35010	0.931000	0.37212	0.993000	0.82548	1.924000	0.40065	0.724000	0.32296	0.459000	0.35465	ATG		0.413	RCBTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044912.2	NM_018191		53	126	0	0	0	1	0	53	126				
KRT6A	3853	broad.mit.edu	37	12	52884675	52884675	+	Silent	SNP	G	G	A	rs398542		TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr12:52884675G>A	ENST00000330722.6	-	4	947	c.879C>T	c.(877-879)gaC>gaT	p.D293D		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	293	Coil 1B.|Rod.				cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.D293D(4)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		AGTTGATCTCGTCTGTGAGAG	0.498																																						ENST00000330722.6																			4	Substitution - coding silent(4)	p.D293D(4)	kidney(2)|lung(1)|endometrium(1)	breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39						c.(877-879)gaC>gaT		keratin 6A							196.0	172.0	180.0					12																	52884675		2203	4300	6503	SO:0001819	synonymous_variant	3853				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52884675G>A	BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6443	protein-coding gene	gene with protein product		148041	"""keratin 6C"", ""keratin 6D"""	KRT6C, KRT6D		1713141, 16831889	Standard	NM_005554		Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.879C>T	12.37:g.52884675G>A							p.D293D	NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	4	947	-			293			Coil 1B.|Rod.		A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Silent	SNP	ENST00000330722.6	37	c.879C>T	CCDS41786.1																																																																																				0.498	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404978.2	NM_005554		6	44	0	0	0	1	0	6	44				
MAP4	4134	broad.mit.edu	37	3	47958144	47958144	+	Silent	SNP	A	A	G			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr3:47958144A>G	ENST00000360240.6	-	7	1691	c.1173T>C	c.(1171-1173)gcT>gcC	p.A391A	MAP4_ENST00000426837.2_Silent_p.A408A|MAP4_ENST00000383737.4_Intron|MAP4_ENST00000395734.3_Silent_p.A391A	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4	391	17 X 14 AA tandem repeats.				cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)	p.A391A(2)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	CCTTGGAAGGAGCCAAGTCCA	0.443																																						ENST00000426837.2																			2	Substitution - coding silent(2)	p.A391A(2)	lung(2)	breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32						c.(1222-1224)gcT>gcC		microtubule-associated protein 4							148.0	145.0	146.0					3																	47958144		2203	4300	6503	SO:0001819	synonymous_variant	4134				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr3:47958144A>G		CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.1173T>C	3.37:g.47958144A>G						MAP4_ENST00000360240.6_Silent_p.A391A|MAP4_ENST00000395734.3_Silent_p.A391A|MAP4_ENST00000383737.4_Intron	p.A408A			P27816	MAP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	8	1311	-			391			17 X 14 AA tandem repeats.		Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Silent	SNP	ENST00000360240.6	37	c.1224T>C	CCDS33750.1																																																																																				0.443	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346085.1	NM_002375		4	241	0	0	0	1	0	4	241				
OR9G1	390174	broad.mit.edu	37	11	56468248	56468248	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr11:56468248C>G	ENST00000312153.1	+	1	385	c.385C>G	c.(385-387)Ctg>Gtg	p.L129V		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	129						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						CTCCAAGCCCCTGCTTTATGC	0.512																																						ENST00000312153.1																			0				breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						c.(385-387)Ctg>Gtg		olfactory receptor, family 9, subfamily G, member 1							172.0	158.0	163.0					11																	56468248		2201	4296	6497	SO:0001583	missense	390174							g.chr11:56468248C>G	AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"""GPCR / Class A : Olfactory receptors"""	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.385C>G	11.37:g.56468248C>G	ENSP00000309012:p.Leu129Val						p.L129V	NM_001005213.1	NP_001005213.1					1	385	+								Q6IEU9|Q8NGQ0	Missense_Mutation	SNP	ENST00000312153.1	37	c.385C>G	CCDS31536.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.447620	0.63178	.	.	ENSG00000174914	ENST00000312153	T	0.01484	4.84	4.54	2.6	0.31112	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42053	D	0.000761	T	0.14270	0.0345	H	0.95950	3.745	0.35071	D	0.762468	D	0.76494	0.999	D	0.87578	0.998	T	0.14811	-1.0459	10	0.87932	D	0	-13.9629	8.9838	0.35980	0.1476:0.7729:0.0:0.0795	.	129	Q8NH87	OR9G1_HUMAN	V	129	ENSP00000309012:L129V	ENSP00000309012:L129V	L	+	1	2	OR9G1	56224824	0.000000	0.05858	0.997000	0.53966	0.952000	0.60782	-0.185000	0.09684	0.596000	0.29794	0.585000	0.79938	CTG		0.512	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	NM_001005213		11	184	0	0	0	1	0	11	184				
CCR7	1236	broad.mit.edu	37	17	38711204	38711204	+	Silent	SNP	G	G	A			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr17:38711204G>A	ENST00000246657.2	-	3	989	c.927C>T	c.(925-927)gaC>gaT	p.D309D	CCR7_ENST00000579344.1_Silent_p.D303D	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7	309					activation of Rho GTPase activity (GO:0032862)|cellular response to cytokine stimulus (GO:0071345)|chemokine (C-C motif) ligand 19 signaling pathway (GO:0038115)|chemokine (C-C motif) ligand 21 signaling pathway (GO:0038116)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|establishment of T cell polarity (GO:0001768)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-12 secretion (GO:0072610)|lymphocyte migration into lymph node (GO:0097022)|mature dendritic cell differentiation (GO:0097029)|myeloid dendritic cell chemotaxis (GO:0002408)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative thymic T cell selection (GO:0045060)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell motility (GO:2000147)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of glycoprotein biosynthetic process involved in immunological synapse formation (GO:2000526)|positive regulation of humoral immune response (GO:0002922)|positive regulation of hypersensitivity (GO:0002885)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of immunological synapse formation (GO:2000522)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of T cell costimulation (GO:2000525)|positive regulation of T cell receptor signaling pathway (GO:0050862)|regulation of dendritic cell dendrite assembly (GO:2000547)|regulation of interferon-gamma production (GO:0032649)|regulation of interleukin-1 beta secretion (GO:0050706)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to nitric oxide (GO:0071731)|response to prostaglandin E (GO:0034695)|ruffle organization (GO:0031529)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-C motif chemokine 19 receptor activity (GO:0038117)|C-C motif chemokine 21 receptor activity (GO:0038121)|chemokine (C-C motif) ligand 19 binding (GO:0035757)|chemokine (C-C motif) ligand 21 binding (GO:0035758)|G-protein coupled receptor activity (GO:0004930)			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				TGTAGGTGACGTCGTAGGCGA	0.567																																						ENST00000246657.2																			0				breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(925-927)gaC>gaT		chemokine (C-C motif) receptor 7							225.0	177.0	193.0					17																	38711204		2203	4300	6503	SO:0001819	synonymous_variant	1236				cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding	g.chr17:38711204G>A		CCDS11369.1	17q12-q21.2	2012-08-08			ENSG00000126353	ENSG00000126353		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1608	protein-coding gene	gene with protein product		600242		CMKBR7, EBI1		8383238	Standard	NM_001838		Approved	BLR2, CDw197, CD197	uc002huw.3	P32248	OTTHUMG00000133375	ENST00000246657.2:c.927C>T	17.37:g.38711204G>A						CCR7_ENST00000579344.1_Silent_p.D303D	p.D309D	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN			3	989	-		Breast(137;0.000496)	309						Silent	SNP	ENST00000246657.2	37	c.927C>T	CCDS11369.1																																																																																				0.567	CCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257222.1			8	89	0	0	0	1	0	8	89				
CDKN2AIP	55602	broad.mit.edu	37	4	184367509	184367509	+	Silent	SNP	G	G	A			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr4:184367509G>A	ENST00000504169.1	+	3	879	c.672G>A	c.(670-672)acG>acA	p.T224T	CDKN2AIP_ENST00000302350.4_3'UTR|CDKN2AIP_ENST00000506835.1_3'UTR	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	224	Ser-rich.				negative regulation of cell growth (GO:0030308)|positive regulation of signal transduction (GO:0009967)|regulation of protein stability (GO:0031647)	cytoplasm (GO:0005737)|granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	p53 binding (GO:0002039)|RNA binding (GO:0003723)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		AGGTAACAACGGCAGGATCTG	0.488																																						ENST00000504169.1																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6						c.(670-672)acG>acA		CDKN2A interacting protein							82.0	78.0	79.0					4																	184367509		2203	4300	6503	SO:0001819	synonymous_variant	55602				negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding	g.chr4:184367509G>A	AK000043	CCDS34110.1	4q35.1	2008-02-05			ENSG00000168564	ENSG00000168564			24325	protein-coding gene	gene with protein product	"""collaborates/cooperates with ARF (alternate reading frame) protein"""	615914				12154087, 16803988	Standard	NM_017632		Approved	FLJ20036, CARF	uc003ivp.1	Q9NXV6	OTTHUMG00000160626	ENST00000504169.1:c.672G>A	4.37:g.184367509G>A						CDKN2AIP_ENST00000506835.1_3'UTR|CDKN2AIP_ENST00000302350.4_3'UTR	p.T224T	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	3	879	+		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	224			Ser-rich.		Q8TBM5|Q9NYH0	Silent	SNP	ENST00000504169.1	37	c.672G>A	CCDS34110.1																																																																																				0.488	CDKN2AIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361488.1	NM_017632		4	95	0	0	0	1	0	4	95				
DCAF8	50717	broad.mit.edu	37	1	160209956	160209956	+	Missense_Mutation	SNP	C	C	A			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr1:160209956C>A	ENST00000368073.3	-	4	688	c.254G>T	c.(253-255)gGt>gTt	p.G85V	DCAF8_ENST00000608310.1_Missense_Mutation_p.G239V|DCAF8_ENST00000326837.2_Missense_Mutation_p.G85V|DCAF8_ENST00000610139.1_Missense_Mutation_p.G85V|DCAF8_ENST00000556710.1_Missense_Mutation_p.G239V|DCAF8_ENST00000368074.1_Missense_Mutation_p.G85V|DCAF8_ENST00000475733.1_Missense_Mutation_p.G85V			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	85					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						GGAGTAATGACCAGTGTCCTC	0.537																																						ENST00000368073.3																			0				cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						c.(253-255)gGt>gTt		DDB1 and CUL4 associated factor 8							111.0	81.0	91.0					1																	160209956		2203	4300	6503	SO:0001583	missense	50717					CUL4 RING ubiquitin ligase complex	protein binding	g.chr1:160209956C>A	AK093176	CCDS1200.1	1q22-q23	2013-01-09	2009-07-17	2009-07-17	ENSG00000132716	ENSG00000132716		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	24891	protein-coding gene	gene with protein product		615820	"""WD repeat domain 42A"""	WDR42A		11401431	Standard	NM_015726		Approved	H326, FLJ35857	uc010pjb.1	Q5TAQ9	OTTHUMG00000031604	ENST00000368073.3:c.254G>T	1.37:g.160209956C>A	ENSP00000357052:p.Gly85Val					DCAF8_ENST00000556710.1_Missense_Mutation_p.G239V|DCAF8_ENST00000461888.1_5'UTR|DCAF8_ENST00000368074.1_Missense_Mutation_p.G85V|DCAF8_ENST00000326837.2_Missense_Mutation_p.G85V	p.G85V			Q5TAQ9	DCAF8_HUMAN			4	688	-			85					D3DVE6|Q12839|Q4QQI6|Q53F14|Q66K50|Q68CS7|Q96E00	Missense_Mutation	SNP	ENST00000368073.3	37	c.254G>T	CCDS1200.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.998123	0.74818	.	.	ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000258465;ENSG00000258465	ENST00000368073;ENST00000326837;ENST00000368074;ENST00000555195;ENST00000540855;ENST00000447377;ENST00000440682;ENST00000407642;ENST00000556710;ENST00000485079	T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.12;-0.12	5.03	5.03	0.67393	.	0.000000	0.56097	U	0.000028	T	0.63768	0.2539	L	0.40543	1.245	0.80722	D	1	D;D;P	0.61080	0.961;0.989;0.868	P;P;B	0.57776	0.732;0.827;0.307	T	0.61407	-0.7069	10	0.30854	T	0.27	-10.83	17.1617	0.86805	0.0:1.0:0.0:0.0	.	239;85;85	G3V3G9;Q5TAQ9-2;Q5TAQ9	.;.;DCAF8_HUMAN	V	85;85;85;239;66;85;85;85;239;297	ENSP00000357052:G85V;ENSP00000318227:G85V;ENSP00000357053:G85V;ENSP00000451989:G239V;ENSP00000451235:G239V	ENSP00000318227:G85V	G	-	2	0	RP11-574F21.3;DCAF8	158476580	0.938000	0.31826	1.000000	0.80357	0.981000	0.71138	2.905000	0.48727	2.328000	0.79073	0.650000	0.86243	GGT		0.537	DCAF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077402.2	NM_015726		8	21	1	0	0.000157383	1	0.000172684	8	21				
MYCBP2	23077	broad.mit.edu	37	13	77835374	77835374	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr13:77835374A>G	ENST00000544440.2	-	12	1687	c.1670T>C	c.(1669-1671)cTt>cCt	p.L557P	MYCBP2_ENST00000357337.6_Missense_Mutation_p.L557P|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000407578.2_Missense_Mutation_p.L595P					MYC binding protein 2, E3 ubiquitin protein ligase									p.L557H(2)|p.L595H(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TGCAACTAAAAGGGCGTGAGA	0.403																																						ENST00000407578.2																			3	Substitution - Missense(3)	p.L557H(2)|p.L595H(1)	kidney(3)	NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(1783-1785)cTt>cCt		MYC binding protein 2, E3 ubiquitin protein ligase							133.0	121.0	125.0					13																	77835374		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77835374A>G	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.1670T>C	13.37:g.77835374A>G	ENSP00000444596:p.Leu557Pro					MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.L557P|MYCBP2_ENST00000544440.2_Missense_Mutation_p.L557P	p.L595P	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	12	2050	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	557						Missense_Mutation	SNP	ENST00000544440.2	37	c.1784T>C		.	.	.	.	.	.	.	.	.	.	A	25.2	4.616757	0.87359	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	D;D;D	0.82803	-1.65;-1.65;-1.65	5.62	5.62	0.85841	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.64402	D	0.000004	D	0.89100	0.6619	L	0.55481	1.735	0.80722	D	1	D	0.65815	0.995	D	0.75484	0.986	D	0.90145	0.4216	10	0.87932	D	0	.	15.8183	0.78621	1.0:0.0:0.0:0.0	.	557	O75592	MYCB2_HUMAN	P	557;595;557	ENSP00000349892:L557P;ENSP00000384288:L595P;ENSP00000444596:L557P	ENSP00000349892:L557P	L	-	2	0	MYCBP2	76733375	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.228000	0.95250	2.143000	0.66587	0.477000	0.44152	CTT		0.403	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		3	70	0	0	0	1	0	3	70				
BOD1L1	259282	broad.mit.edu	37	4	13602746	13602746	+	Silent	SNP	T	T	G			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr4:13602746T>G	ENST00000040738.5	-	10	5913	c.5778A>C	c.(5776-5778)gcA>gcC	p.A1926A		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1926						nucleus (GO:0005634)	DNA binding (GO:0003677)										TATTTTCATTTGCATTCATGA	0.458																																						ENST00000040738.5																			0											c.(5776-5778)gcA>gcC		biorientation of chromosomes in cell division 1-like 1							106.0	102.0	103.0					4																	13602746		2203	4300	6503	SO:0001819	synonymous_variant	259282						DNA binding	g.chr4:13602746T>G	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.5778A>C	4.37:g.13602746T>G							p.A1926A	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			10	5913	-			1926					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	ENST00000040738.5	37	c.5778A>C	CCDS3411.2																																																																																				0.458	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		9	67	0	0	0	1	0	9	67				
CXCR2	3579	broad.mit.edu	37	2	219000218	219000218	+	Missense_Mutation	SNP	G	G	A	rs201103729		TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr2:219000218G>A	ENST00000318507.2	+	3	1121	c.694G>A	c.(694-696)Gga>Aga	p.G232R		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	232					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)|signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						GTTCTGCTACGGATTCACCCT	0.567																																						ENST00000318507.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						c.(694-696)Gga>Aga		chemokine (C-X-C motif) receptor 2							198.0	184.0	189.0					2																	219000218		2203	4300	6503	SO:0001583	missense	3579				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity	g.chr2:219000218G>A	U11869	CCDS2408.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000180871	ENSG00000180871		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"", ""Interleukins and interleukin receptors"""	6027	protein-coding gene	gene with protein product		146928	"""interleukin 8 receptor, beta"""	IL8RB		1427896	Standard	NM_001557		Approved	CMKAR2, CD182	uc002vha.2	P25025	OTTHUMG00000133107	ENST00000318507.2:c.694G>A	2.37:g.219000218G>A	ENSP00000319635:p.Gly232Arg						p.G232R	NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN			3	1121	+			232					Q8IUZ1|Q9P2T6|Q9P2T7	Missense_Mutation	SNP	ENST00000318507.2	37	c.694G>A	CCDS2408.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.152360	0.38021	.	.	ENSG00000180871	ENST00000318507	T	0.72725	-0.68	5.4	4.52	0.55395	GPCR, rhodopsin-like superfamily (1);	0.055536	0.64402	D	0.000001	D	0.84933	0.5582	M	0.91920	3.255	0.09310	N	1	D	0.89917	1.0	D	0.79784	0.993	T	0.77496	-0.2566	9	.	.	.	.	8.1011	0.30857	0.0816:0.0:0.7614:0.157	.	232	P25025	CXCR2_HUMAN	R	232	ENSP00000319635:G232R	.	G	+	1	0	CXCR2	218708463	0.999000	0.42202	0.034000	0.17996	0.245000	0.25701	3.027000	0.49697	1.285000	0.44548	0.462000	0.41574	GGA		0.567	CXCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256772.2	NM_001557		93	224	0	0	0	1	0	93	224				
SLC17A5	26503	broad.mit.edu	37	6	74325149	74325149	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr6:74325149G>A	ENST00000355773.5	-	8	1268	c.1000C>T	c.(1000-1002)Cct>Tct	p.P334S	SLC17A5_ENST00000393019.3_3'UTR	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	334			P -> R (in ISSD). {ECO:0000269|PubMed:10581036, ECO:0000269|PubMed:10947946}.		amino acid transport (GO:0006865)|anion transport (GO:0006820)|ion transport (GO:0006811)|proton transport (GO:0015992)|sialic acid transport (GO:0015739)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	sialic acid transmembrane transporter activity (GO:0015136)|sugar:proton symporter activity (GO:0005351)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCTAAATAAGGCAATGAAGAT	0.353																																						ENST00000355773.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1000-1002)Cct>Tct		solute carrier family 17 (acidic sugar transporter), member 5							86.0	80.0	82.0					6																	74325149		2203	4300	6503	SO:0001583	missense	26503				anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity	g.chr6:74325149G>A	AJ387747	CCDS4981.1	6q13	2013-07-18	2013-07-18		ENSG00000119899	ENSG00000119899		"""Solute carriers"""	10933	protein-coding gene	gene with protein product		604322	"""sialic acid storage disease"", ""solute carrier family 17 (anion/sugar transporter), member 5"""	SIASD		10581036, 8198127	Standard	NM_012434		Approved	AST, SD, ISSD, NSD, SIALIN, SLD	uc003phn.4	Q9NRA2	OTTHUMG00000015039	ENST00000355773.5:c.1000C>T	6.37:g.74325149G>A	ENSP00000348019:p.Pro334Ser					SLC17A5_ENST00000393019.3_3'UTR	p.P334S	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN			8	1268	-			334		P -> R (in ISSD).			Q5SZ76|Q8NBR5|Q9UGH0	Missense_Mutation	SNP	ENST00000355773.5	37	c.1000C>T	CCDS4981.1	.	.	.	.	.	.	.	.	.	.	G	17.38	3.374265	0.61735	.	.	ENSG00000119899	ENST00000355773	T	0.57907	0.37	4.83	4.83	0.62350	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.77785	0.4182	H	0.94734	3.575	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85273	0.1057	10	0.87932	D	0	.	17.9228	0.88972	0.0:0.0:1.0:0.0	.	396;334	E1P537;Q9NRA2	.;S17A5_HUMAN	S	334	ENSP00000348019:P334S	ENSP00000348019:P334S	P	-	1	0	SLC17A5	74381870	1.000000	0.71417	0.996000	0.52242	0.271000	0.26615	8.678000	0.91211	2.221000	0.72209	0.561000	0.74099	CCT		0.353	SLC17A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041228.1			5	36	0	0	0	1	0	5	36				
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		679	Substitution - Missense(678)|Complex - compound substitution(1)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)Cgt>Tgt		isocitrate dehydrogenase 1 (NADP+), soluble							81.0	74.0	76.0					2																	209113113		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113113G>A		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>T	2.37:g.209113113G>A	ENSP00000390265:p.Arg132Cys					IDH1_ENST00000446179.1_Missense_Mutation_p.R132C|IDH1_ENST00000345146.2_Missense_Mutation_p.R132C	p.R132C			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	775	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.394C>T	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550898	0.86127	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.94049	0.8093	H	0.99379	4.54	0.80722	D	1	B	0.29862	0.259	B	0.31245	0.126	D	0.94048	0.7315	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	C	132	ENSP00000260985:R132C;ENSP00000410513:R132C;ENSP00000390265:R132C;ENSP00000391075:R132C	ENSP00000260985:R132C	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			18	53	0	0	0	1	0	18	53				
ST5	6764	broad.mit.edu	37	11	8751512	8751512	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr11:8751512C>T	ENST00000534127.1	-	6	1710	c.1325G>A	c.(1324-1326)cGc>cAc	p.R442H	ST5_ENST00000357665.1_Missense_Mutation_p.R442H|ST5_ENST00000526757.1_Intron|ST5_ENST00000313726.6_Missense_Mutation_p.R442H|ST5_ENST00000530438.1_Intron	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	442	Interaction with ABL1.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		CTGGGACTTGCGGTGACCACG	0.577																																						ENST00000534127.1																			0				NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(1324-1326)cGc>cAc		suppression of tumorigenicity 5							293.0	286.0	288.0					11																	8751512		2201	4296	6497	SO:0001583	missense	6764				positive regulation of ERK1 and ERK2 cascade		protein binding	g.chr11:8751512C>T	U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.1325G>A	11.37:g.8751512C>T	ENSP00000433528:p.Arg442His					ST5_ENST00000526757.1_Intron|ST5_ENST00000313726.6_Missense_Mutation_p.R442H|ST5_ENST00000530438.1_Intron|ST5_ENST00000357665.1_Missense_Mutation_p.R442H	p.R442H	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN		Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)	6	1710	-			442			Interaction with ABL1.		B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Missense_Mutation	SNP	ENST00000534127.1	37	c.1325G>A	CCDS7791.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.269717	0.40095	.	.	ENSG00000166444	ENST00000534127;ENST00000313726;ENST00000357665	T;T;T	0.05855	3.38;3.38;3.38	6.11	5.2	0.72013	.	0.318346	0.37053	N	0.002271	T	0.06096	0.0158	L	0.29908	0.895	0.35051	D	0.760619	B	0.32573	0.376	B	0.23275	0.045	T	0.20107	-1.0285	10	0.66056	D	0.02	-9.1709	15.6375	0.76966	0.0:0.9344:0.0:0.0656	.	442	P78524	ST5_HUMAN	H	442	ENSP00000433528:R442H;ENSP00000319678:R442H;ENSP00000350294:R442H	ENSP00000319678:R442H	R	-	2	0	ST5	8708088	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.831000	0.48144	1.598000	0.50083	-0.150000	0.13652	CGC		0.577	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418		5	577	0	0	0	1	0	5	577				
ADH1C	126	broad.mit.edu	37	4	100264168	100264168	+	RNA	SNP	G	G	A	rs78113489		TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr4:100264168G>A	ENST00000510055.1	-	0	786				ADH1C_ENST00000515683.1_RNA			P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|zinc ion binding (GO:0008270)								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	CAGATAGGCCGACCCCTCCCA	0.438																																						ENST00000510055.1																			0													alcohol dehydrogenase 1C (class I), gamma polypeptide	Fomepizole(DB01213)|NADH(DB00157)	G		0,4406		0,0,2203	189.0	194.0	193.0		612	-6.9	0.9	4	dbSNP_131	193	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	ADH1C	NM_000669.3		0,5,6498	AA,AG,GG		0.0581,0.0,0.0384		204/376	100264168	5,13001	2203	4300	6503			126				ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding	g.chr4:100264168G>A	M12272		4q23	2010-03-16			ENSG00000248144	ENSG00000248144	1.1.1.1	"""Alcohol dehydrogenases"""	251	protein-coding gene	gene with protein product		103730		ADH3		3006456	Standard	NM_000669		Approved		uc031sgp.1	P00326	OTTHUMG00000161422		4.37:g.100264168G>A						ADH1C_ENST00000515683.1_RNA				P00326	ADH1G_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	0	786	-								Q4PJ18|Q5WRV0|Q6LBW4|Q6NWV0|Q6NZA7	RNA	SNP	ENST00000510055.1	37																																																																																						0.438	ADH1C-004	KNOWN	mRNA_end_NF|basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000365189.2	NM_000669		13	286	0	0	0	1	0	13	286				
LCN6	158062	broad.mit.edu	37	9	139640326	139640326	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr9:139640326G>A	ENST00000341206.4	-	3	315	c.271C>T	c.(271-273)Cga>Tga	p.R91*	LCN10_ENST00000527229.1_5'Flank|LCN6_ENST00000476567.1_Nonsense_Mutation_p.R6*|LCN6_ENST00000471509.1_5'Flank|LCN6_ENST00000480584.1_5'Flank|LCN10_ENST00000497771.1_5'Flank|LCN6_ENST00000435202.1_Nonsense_Mutation_p.R81*|LCN10_ENST00000474369.1_5'Flank	NM_198946.2	NP_945184.1	P62502	LCN6_HUMAN	lipocalin 6	91					single fertilization (GO:0007338)	extracellular region (GO:0005576)				lung(3)|upper_aerodigestive_tract(1)	4	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.32e-06)|Epithelial(140;7.83e-05)		CCGGAGTTTCGCTTTATCAGG	0.632																																					Melanoma(172;919 2704 37090 48131)	ENST00000435202.1																			0				lung(3)|upper_aerodigestive_tract(1)	4						c.(241-243)Cga>Tga		lipocalin 6							169.0	150.0	156.0					9																	139640326		2203	4300	6503	SO:0001587	stop_gained	158062				single fertilization	extracellular region	binding	g.chr9:139640326G>A	AF303084	CCDS7005.1	9q34.3	2012-10-08			ENSG00000267206	ENSG00000267206		"""Lipocalins"""	17337	protein-coding gene	gene with protein product		609379					Standard	NM_198946		Approved		uc004ciy.2	P62502	OTTHUMG00000020941	ENST00000341206.4:c.271C>T	9.37:g.139640326G>A	ENSP00000339621:p.Arg91*					LCN6_ENST00000476567.1_Nonsense_Mutation_p.R6*|LCN6_ENST00000341206.4_Nonsense_Mutation_p.R91*	p.R81*			P62502	LCN6_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.32e-06)|Epithelial(140;7.83e-05)	3	240	-	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)	91					B0QZ80|Q71SF6	Nonsense_Mutation	SNP	ENST00000341206.4	37	c.241C>T	CCDS7005.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.630084	0.67015	.	.	ENSG00000204003	ENST00000341206	.	.	.	4.16	2.27	0.28462	.	0.462257	0.16012	N	0.233763	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-10.4693	5.7661	0.18227	0.1048:0.0:0.7041:0.191	.	.	.	.	X	91	.	ENSP00000339621:R91X	R	-	1	2	LCN6	138760147	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	0.340000	0.19892	0.476000	0.27440	-0.841000	0.03054	CGA		0.632	LCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055107.3	NM_198946		5	205	0	0	0	1	0	5	205				
PRMT5	10419	broad.mit.edu	37	14	23395475	23395475	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr14:23395475T>C	ENST00000324366.8	-	7	867	c.644A>G	c.(643-645)aAt>aGt	p.N215S	PRMT5-AS1_ENST00000590290.1_RNA|PRMT5-AS1_ENST00000457443.2_RNA|PRMT5-AS1_ENST00000599580.2_RNA|PRMT5-AS1_ENST00000424245.2_RNA|PRMT5_ENST00000538452.1_Missense_Mutation_p.N109S|PRMT5_ENST00000397441.2_Missense_Mutation_p.N198S|PRMT5_ENST00000553641.1_5'UTR|PRMT5_ENST00000397440.4_Intron|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5_ENST00000553897.1_Missense_Mutation_p.N171S|PRMT5_ENST00000216350.8_Missense_Mutation_p.N154S	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	215	TIM barrel. {ECO:0000269|PubMed:23071334}.				cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|endothelial cell activation (GO:0042118)|gene expression (GO:0010467)|histone H4-R3 methylation (GO:0043985)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|peptidyl-arginine N-methylation (GO:0035246)|regulation of mitosis (GO:0007088)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|histone-arginine N-methyltransferase activity (GO:0008469)|methyltransferase activity (GO:0008168)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|transcription corepressor activity (GO:0003714)			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		AATGACATGATTAGATGGGAG	0.473																																						ENST00000324366.8																			0				endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25						c.(643-645)aAt>aGt		protein arginine methyltransferase 5							83.0	87.0	86.0					14																	23395475		2203	4300	6503	SO:0001583	missense	10419				cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding	g.chr14:23395475T>C	AF015913	CCDS9579.1, CCDS41922.1, CCDS61394.1, CCDS61395.1, CCDS61396.1	14q11.2	2014-06-12	2006-02-16	2006-02-16	ENSG00000100462	ENSG00000100462	2.1.1.125	"""Protein arginine methyltransferases"""	10894	protein-coding gene	gene with protein product		604045	"""skb1 (S. pombe) homolog"", ""SKB1 homolog (S. pombe)"""	HRMT1L5, SKB1		9843966	Standard	NM_001282955		Approved	SKB1Hs	uc001whm.1	O14744	OTTHUMG00000028709	ENST00000324366.8:c.644A>G	14.37:g.23395475T>C	ENSP00000319169:p.Asn215Ser					PRMT5_ENST00000397440.4_Intron|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5_ENST00000553641.1_5'UTR|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5_ENST00000538452.1_Missense_Mutation_p.N109S|PRMT5-AS1_ENST00000599580.1_RNA|PRMT5_ENST00000397441.2_Missense_Mutation_p.N198S|PRMT5_ENST00000553897.1_Missense_Mutation_p.N171S|PRMT5_ENST00000216350.8_Missense_Mutation_p.N154S	p.N215S	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN		GBM - Glioblastoma multiforme(265;0.0126)	7	867	-	all_cancers(95;2.76e-05)		215					A8MTP3|A8MZ91|B4DX49|B4DY30|B5BU10|D3DS33|E2QRE7|Q6IBR1|Q9UKH1	Missense_Mutation	SNP	ENST00000324366.8	37	c.644A>G	CCDS9579.1	.	.	.	.	.	.	.	.	.	.	T	9.389	1.074896	0.20227	.	.	ENSG00000100462	ENST00000324366;ENST00000397441;ENST00000216350;ENST00000538452;ENST00000553897;ENST00000555530;ENST00000554867;ENST00000556616	.	.	.	5.37	2.94	0.34122	.	0.260319	0.44688	N	0.000422	T	0.15262	0.0368	N	0.00960	-1.095	0.35106	D	0.765729	B;B;B;B	0.09022	0.001;0.001;0.002;0.002	B;B;B;B	0.15052	0.0;0.009;0.006;0.012	T	0.13656	-1.0501	9	0.10636	T	0.68	-9.3821	7.5309	0.27683	0.0:0.2422:0.0:0.7578	.	171;154;215;198	G3V5W5;B4DX49;O14744;A8MZ91	.;.;ANM5_HUMAN;.	S	215;198;154;109;171;110;170;177	.	ENSP00000216350:N154S	N	-	2	0	PRMT5	22465315	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.870000	0.39529	0.933000	0.37291	0.459000	0.35465	AAT		0.473	PRMT5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071674.3			10	91	0	0	0	1	0	10	91				
SLC1A4	6509	broad.mit.edu	37	2	65248050	65248050	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr2:65248050C>T	ENST00000234256.3	+	8	1612	c.1369C>T	c.(1369-1371)Cgg>Tgg	p.R457W	SLC1A4_ENST00000531327.1_Missense_Mutation_p.R159W	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	457					amino acid transport (GO:0006865)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|cognition (GO:0050890)|glutamine transport (GO:0006868)|hydroxyproline transport (GO:0034589)|ion transport (GO:0006811)|L-alanine transport (GO:0015808)|L-cystine transport (GO:0015811)|L-serine transport (GO:0015825)|proline transmembrane transport (GO:0035524)|proline transport (GO:0015824)|synaptic transmission, glutamatergic (GO:0035249)|threonine transport (GO:0015826)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|centrosome (GO:0005813)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament (GO:0005882)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|L-alanine transmembrane transporter activity (GO:0015180)|L-cystine transmembrane transporter activity (GO:0015184)|L-glutamine transmembrane transporter activity (GO:0015186)|L-hydroxyproline transmembrane transporter activity (GO:0034590)|L-proline transmembrane transporter activity (GO:0015193)|L-serine transmembrane transporter activity (GO:0015194)|L-threonine transmembrane transporter activity (GO:0015195)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	CACCAGGGACCGGACCACCAC	0.552																																						ENST00000234256.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13						c.(1369-1371)Cgg>Tgg		solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	L-Alanine(DB00160)						75.0	78.0	77.0					2																	65248050		2203	4300	6503	SO:0001583	missense	6509				cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr2:65248050C>T		CCDS1879.1, CCDS54362.1	2p15-p13	2013-05-22			ENSG00000115902	ENSG00000115902		"""Solute carriers"""	10942	protein-coding gene	gene with protein product	"""alanine/serine/cysteine/threonine transporter"""	600229				7896285, 8910405	Standard	NM_003038		Approved	SATT, ASCT1	uc010yqa.2	P43007	OTTHUMG00000129537	ENST00000234256.3:c.1369C>T	2.37:g.65248050C>T	ENSP00000234256:p.Arg457Trp					SLC1A4_ENST00000531327.1_Missense_Mutation_p.R159W	p.R457W	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN			8	1612	+			457					B7Z3C0|D6W5F0	Missense_Mutation	SNP	ENST00000234256.3	37	c.1369C>T	CCDS1879.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.556740	0.86231	.	.	ENSG00000115902	ENST00000531327;ENST00000448784;ENST00000234256	T;T	0.60920	0.15;0.15	5.79	3.95	0.45737	.	0.000000	0.85682	D	0.000000	D	0.83198	0.5202	H	0.95917	3.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88415	0.3024	10	0.87932	D	0	-3.8728	15.5028	0.75713	0.2288:0.7712:0.0:0.0	.	457;159	P43007;B7Z3C0	SATT_HUMAN;.	W	159;377;457	ENSP00000431942:R159W;ENSP00000234256:R457W	ENSP00000234256:R457W	R	+	1	2	SLC1A4	65101554	1.000000	0.71417	0.999000	0.59377	0.898000	0.52572	5.863000	0.69568	0.753000	0.32945	0.555000	0.69702	CGG		0.552	SLC1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251726.2	NM_003038		38	101	0	0	0	1	0	38	101				
PRAMEF10	343071	broad.mit.edu	37	1	12954492	12954492	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr1:12954492A>G	ENST00000235347.4	-	3	870	c.791T>C	c.(790-792)cTc>cCc	p.L264P		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	264					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTACAGGCAGAGGAATGGAGA	0.463																																						ENST00000235347.4																			0				NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12						c.(790-792)cTc>cCc		PRAME family member 10							175.0	123.0	140.0					1																	12954492		1910	4104	6014	SO:0001583	missense	343071							g.chr1:12954492A>G	AL049682	CCDS41255.1	1p36.21	2013-01-17			ENSG00000187545	ENSG00000187545		"""-"""	27997	protein-coding gene	gene with protein product							Standard	NM_001039361		Approved		uc001auo.3	O60809	OTTHUMG00000001981	ENST00000235347.4:c.791T>C	1.37:g.12954492A>G	ENSP00000235347:p.Leu264Pro						p.L264P	NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	870	-	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	264					Q2M1V2	Missense_Mutation	SNP	ENST00000235347.4	37	c.791T>C	CCDS41255.1	.	.	.	.	.	.	.	.	.	.	.	7.293	0.611438	0.14066	.	.	ENSG00000187545	ENST00000235347	T	0.19806	2.12	1.57	0.415	0.16411	.	1.571920	0.03445	N	0.209887	T	0.17789	0.0427	L	0.41027	1.25	0.09310	N	0.999997	B	0.28026	0.198	B	0.30572	0.117	T	0.21586	-1.0241	10	0.31617	T	0.26	.	2.9963	0.06000	0.7028:0.0:0.2972:0.0	.	264	O60809	PRA10_HUMAN	P	264	ENSP00000235347:L264P	ENSP00000235347:L264P	L	-	2	0	PRAMEF10	12877079	0.003000	0.15002	0.006000	0.13384	0.288000	0.27193	0.268000	0.18571	0.104000	0.17725	0.163000	0.16589	CTC		0.463	PRAMEF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005512.2	XM_496342		68	112	0	0	0	1	0	68	112				
FBN2	2201	broad.mit.edu	37	5	127648342	127648342	+	Silent	SNP	G	G	A			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr5:127648342G>A	ENST00000508053.1	-	43	5837	c.4863C>T	c.(4861-4863)tgC>tgT	p.C1621C	FBN2_ENST00000262464.4_Silent_p.C1621C			P35556	FBN2_HUMAN	fibrillin 2	1621	TB 6.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGACAGGGGGGCATGTCTCAC	0.512																																						ENST00000508053.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(4861-4863)tgC>tgT		fibrillin 2							204.0	220.0	215.0					5																	127648342		2203	4300	6503	SO:0001819	synonymous_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127648342G>A	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.4863C>T	5.37:g.127648342G>A						FBN2_ENST00000262464.4_Silent_p.C1621C	p.C1621C			P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	43	5837	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1621			TB 6.		B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	37	c.4863C>T	CCDS34222.1																																																																																				0.512	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		5	422	0	0	0	1	0	5	422				
TP63	8626	broad.mit.edu	37	3	189586404	189586404	+	Missense_Mutation	SNP	G	G	T	rs121908841		TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr3:189586404G>T	ENST00000264731.3	+	8	1117	c.1028G>T	c.(1027-1029)cGg>cTg	p.R343L	TP63_ENST00000440651.2_Missense_Mutation_p.R343L|TP63_ENST00000437221.1_Missense_Mutation_p.R249L|TP63_ENST00000456148.1_Missense_Mutation_p.R249L|TP63_ENST00000382063.4_Missense_Mutation_p.R258L|TP63_ENST00000354600.5_Missense_Mutation_p.R249L|TP63_ENST00000392460.3_Missense_Mutation_p.R343L|TP63_ENST00000392461.3_Missense_Mutation_p.R249L|TP63_ENST00000418709.2_Missense_Mutation_p.R343L|TP63_ENST00000449992.1_Missense_Mutation_p.R164L|TP63_ENST00000320472.5_Missense_Mutation_p.R343L|TP63_ENST00000392463.2_Missense_Mutation_p.R249L	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	343			R -> Q (in EEC3). {ECO:0000269|PubMed:10839977, ECO:0000269|PubMed:11462173}.|R -> W (in EEC3). {ECO:0000269|PubMed:11462173}.		apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|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 factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)	p.R343Q(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TTTGAGGCCCGGATCTGTGCT	0.488										HNSCC(45;0.13)																												ENST00000264731.3																			1	Substitution - Missense(1)	p.R343Q(1)	large_intestine(1)	breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	GRCh37	CM001823|CM030108	TP63	M	rs121908841	c.(1027-1029)cGg>cTg		tumor protein p63							72.0	71.0	71.0					3																	189586404		2203	4300	6503	SO:0001583	missense	8626				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189586404G>T	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.1028G>T	3.37:g.189586404G>T	ENSP00000264731:p.Arg343Leu	HNSCC(45;0.13)				TP63_ENST00000392463.2_Missense_Mutation_p.R249L|TP63_ENST00000382063.4_Missense_Mutation_p.R258L|TP63_ENST00000440651.2_Missense_Mutation_p.R343L|TP63_ENST00000392460.3_Missense_Mutation_p.R343L|TP63_ENST00000437221.1_Missense_Mutation_p.R249L|TP63_ENST00000456148.1_Missense_Mutation_p.R249L|TP63_ENST00000354600.5_Missense_Mutation_p.R249L|TP63_ENST00000392461.3_Missense_Mutation_p.R249L|TP63_ENST00000320472.5_Missense_Mutation_p.R343L|TP63_ENST00000418709.2_Missense_Mutation_p.R343L|TP63_ENST00000449992.1_Missense_Mutation_p.R164L	p.R343L	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	8	1117	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		343		R -> Q (in EEC3).|R -> W (in EEC3).			O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Missense_Mutation	SNP	ENST00000264731.3	37	c.1028G>T	CCDS3293.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.116909	0.77323	.	.	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000382063;ENST00000354600;ENST00000437221;ENST00000392463;ENST00000392461;ENST00000449992;ENST00000456148	D;D;D;D;D;D;D;D;D;D;D;D	0.99866	-7.3;-7.3;-7.3;-7.3;-7.3;-7.3;-7.3;-7.3;-7.3;-7.3;-7.3;-7.3	5.83	5.83	0.93111	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99880	0.9943	M	0.89904	3.07	0.80722	D	1	D;P;D;P;D;P;P;D;D;P	0.62365	0.957;0.794;0.957;0.917;0.957;0.917;0.932;0.991;0.965;0.917	D;P;D;P;D;P;P;D;D;P	0.66979	0.913;0.762;0.913;0.849;0.913;0.849;0.907;0.937;0.948;0.849	D	0.96911	0.9667	9	.	.	.	-15.0836	19.1141	0.93331	0.0:0.0:1.0:0.0	.	164;343;343;249;249;249;249;343;343;343	Q9H3D4-10;Q9H3D4-7;Q9H3D4-11;Q9H3D4-4;Q9H3D4-2;Q9H3D4-6;C9D7C9;Q9H3D4-3;Q9H3D4;Q9H3D4-5	.;.;.;.;.;.;.;.;P63_HUMAN;.	L	343;343;343;343;343;258;249;249;249;249;164;249	ENSP00000264731:R343L;ENSP00000407144:R343L;ENSP00000317510:R343L;ENSP00000376253:R343L;ENSP00000394337:R343L;ENSP00000371495:R258L;ENSP00000346614:R249L;ENSP00000392488:R249L;ENSP00000376256:R249L;ENSP00000376254:R249L;ENSP00000387839:R164L;ENSP00000389485:R249L	.	R	+	2	0	TP63	191069098	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.700000	0.98707	2.749000	0.94314	0.655000	0.94253	CGG		0.488	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722		7	72	1	0	0.0381472	1	0.0391381	7	72				
SPATA18	132671	broad.mit.edu	37	4	52951155	52951155	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr4:52951155G>C	ENST00000295213.4	+	11	1927	c.1553G>C	c.(1552-1554)gGt>gCt	p.G518A	SPATA18_ENST00000419395.2_Missense_Mutation_p.G486A	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	518					cellular response to DNA damage stimulus (GO:0006974)|mitochondrial protein catabolic process (GO:0035694)|mitochondrion degradation by induced vacuole formation (GO:0035695)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial outer membrane (GO:0005741)				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			AGCCAAATTGGTTTAAACACG	0.363																																						ENST00000295213.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(1552-1554)gGt>gCt		spermatogenesis associated 18							92.0	94.0	93.0					4																	52951155		2203	4300	6503	SO:0001583	missense	132671				mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding	g.chr4:52951155G>C	BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"""spermatogenesis associated 18 homolog (rat)"""			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.1553G>C	4.37:g.52951155G>C	ENSP00000295213:p.Gly518Ala					SPATA18_ENST00000419395.2_Missense_Mutation_p.G486A	p.G518A	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)		11	1927	+			518					B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Missense_Mutation	SNP	ENST00000295213.4	37	c.1553G>C	CCDS3489.1	.	.	.	.	.	.	.	.	.	.	G	3.331	-0.136676	0.06711	.	.	ENSG00000163071	ENST00000295213;ENST00000419395	T;T	0.31510	1.49;1.52	5.02	4.12	0.48240	.	0.532723	0.19114	N	0.122377	T	0.15392	0.0371	N	0.16478	0.41	0.09310	N	0.999998	B;B	0.26708	0.157;0.06	B;B	0.24974	0.057;0.057	T	0.19192	-1.0313	10	0.05525	T	0.97	-5.024	10.8673	0.46862	0.0:0.1903:0.8097:0.0	.	486;518	Q8TC71-2;Q8TC71	.;MIEAP_HUMAN	A	518;486	ENSP00000295213:G518A;ENSP00000415309:G486A	ENSP00000295213:G518A	G	+	2	0	SPATA18	52645912	0.981000	0.34729	0.607000	0.28956	0.069000	0.16628	2.537000	0.45702	2.753000	0.94483	0.655000	0.94253	GGT		0.363	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250597.2	NM_145263		4	44	0	0	0	1	0	4	44				
GPR128	84873	broad.mit.edu	37	3	100365452	100365452	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr3:100365452G>T	ENST00000273352.3	+	10	1418	c.1150G>T	c.(1150-1152)Gtc>Ttc	p.V384F	GPR128_ENST00000475887.1_Missense_Mutation_p.V89F|SNORA31_ENST00000517180.1_RNA	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	384	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)	G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						CTATGCCTGTGTCTATTGGAA	0.373																																					Pancreas(87;185 1975 7223 18722)	ENST00000273352.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						c.(1150-1152)Gtc>Ttc		G protein-coupled receptor 128							92.0	95.0	94.0					3																	100365452		2203	4300	6503	SO:0001583	missense	84873				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:100365452G>T	AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"""-"", ""GPCR / Class B : Orphans"""	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.1150G>T	3.37:g.100365452G>T	ENSP00000273352:p.Val384Phe					GPR128_ENST00000475887.1_Missense_Mutation_p.V89F	p.V384F	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN			10	1418	+			384			GPS.		Q14D94|Q86SQ2	Missense_Mutation	SNP	ENST00000273352.3	37	c.1150G>T	CCDS2938.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.004510	0.54254	.	.	ENSG00000144820	ENST00000273352;ENST00000475887	T;T	0.73469	-0.75;-0.75	5.62	5.62	0.85841	GPS domain (3);	0.120193	0.36972	N	0.002310	D	0.91513	0.7320	H	0.98238	4.18	0.41422	D	0.987804	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.94358	0.7585	10	0.72032	D	0.01	.	16.3824	0.83473	0.0:0.0:1.0:0.0	.	89;384	E9PHI0;Q96K78	.;GP128_HUMAN	F	384;89	ENSP00000273352:V384F;ENSP00000419788:V89F	ENSP00000273352:V384F	V	+	1	0	GPR128	101848142	1.000000	0.71417	0.903000	0.35520	0.062000	0.15995	4.907000	0.63300	2.625000	0.88918	0.655000	0.94253	GTC		0.373	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1			4	71	1	0	3.59834e-05	1	4.00378e-05	4	71				
IRS1	3667	broad.mit.edu	37	2	227660233	227660233	+	Silent	SNP	C	C	T			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr2:227660233C>T	ENST00000305123.5	-	1	4242	c.3222G>A	c.(3220-3222)cgG>cgA	p.R1074R	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	1074					cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		TGAGGTTCACCCGGGTGAAGG	0.647																																						ENST00000305123.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(3220-3222)cgG>cgA		insulin receptor substrate 1							60.0	60.0	60.0					2																	227660233		2203	4300	6503	SO:0001819	synonymous_variant	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227660233C>T		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.3222G>A	2.37:g.227660233C>T							p.R1074R	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	4242	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	1074						Silent	SNP	ENST00000305123.5	37	c.3222G>A	CCDS2463.1																																																																																				0.647	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		44	91	0	0	0	1	0	44	91				
TRBV3-1	28619	broad.mit.edu	37	7	142008635	142008635	+	RNA	SNP	C	C	T	rs561888315|rs386718639	byFrequency	TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr7:142008635C>T	ENST00000390387.3	+	0	155									T cell receptor beta variable 3-1																		AGATGGGAAACGACAAGTCCA	0.403													t|||	3	0.000599042	0.0	0.0	5008	,	,		21373	0.0		0.0	False		,,,				2504	0.0031					ENST00000390387.3																			0																				69.0	68.0	68.0					7																	142008635		1858	4113	5971			0							g.chr7:142008635C>T	U07977		7q34	2012-02-07			ENSG00000237702	ENSG00000237702		"""T cell receptors / TRB locus"""	12212	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV31, TCRBV3S1, TCRBV9S1A1T			OTTHUMG00000158526		7.37:g.142008635C>T														0	155	+									RNA	SNP	ENST00000390387.3	37																																																																																						0.403	TRBV3-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351232.1	NG_001333		5	86	0	0	0	1	0	5	86				
EGR2	1959	broad.mit.edu	37	10	64573175	64573175	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr10:64573175G>A	ENST00000242480.3	-	2	1548	c.1223C>T	c.(1222-1224)gCc>gTc	p.A408V	EGR2_ENST00000411732.1_Missense_Mutation_p.A358V|EGR2_ENST00000439032.1_Missense_Mutation_p.A408V|EGR2_ENST00000493899.2_5'Flank	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	408					brain development (GO:0007420)|brain segmentation (GO:0035284)|cell death (GO:0008219)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|facial nerve structural organization (GO:0021612)|fat cell differentiation (GO:0045444)|learning or memory (GO:0007611)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein export from nucleus (GO:0006611)|protein sumoylation (GO:0016925)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ossification (GO:0030278)|response to insulin (GO:0032868)|rhombomere 3 formation (GO:0021660)|rhombomere 5 formation (GO:0021666)|rhythmic behavior (GO:0007622)|Schwann cell differentiation (GO:0014037)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					ATCACTCCGGGCAAACTTTCG	0.602																																						ENST00000242480.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36						c.(1222-1224)gCc>gTc		early growth response 2							142.0	132.0	135.0					10																	64573175		2203	4300	6503	SO:0001583	missense	1959				fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	g.chr10:64573175G>A	BC035625	CCDS7267.1, CCDS44409.1	10q21.1	2014-09-17	2009-04-23		ENSG00000122877	ENSG00000122877		"""Zinc fingers, C2H2-type"""	3239	protein-coding gene	gene with protein product	"""Krox-20 homolog, Drosophila"""	129010	"""early growth response 2 (Krox-20 homolog, Drosophila)"""	KROX20			Standard	NM_000399		Approved		uc001jmi.3	P11161	OTTHUMG00000018308	ENST00000242480.3:c.1223C>T	10.37:g.64573175G>A	ENSP00000242480:p.Ala408Val					EGR2_ENST00000411732.1_Missense_Mutation_p.A358V|EGR2_ENST00000439032.1_Missense_Mutation_p.A408V	p.A408V	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN			2	1548	-	Prostate(12;0.0297)|all_hematologic(501;0.228)		408					B2R724|B3KRD7|Q68CZ5|Q8IV26|Q9UNA6	Missense_Mutation	SNP	ENST00000242480.3	37	c.1223C>T	CCDS7267.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.030176	0.75504	.	.	ENSG00000122877	ENST00000242480;ENST00000439032;ENST00000411732	T;T;T	0.04156	3.69;3.69;3.69	4.85	3.95	0.45737	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.05364	0.0142	L	0.33710	1.025	0.80722	D	1	B;B	0.18461	0.028;0.014	B;B	0.20577	0.03;0.021	T	0.28870	-1.0030	10	0.87932	D	0	-21.3372	12.3133	0.54940	0.0837:0.0:0.9163:0.0	.	358;408	P11161-2;P11161	.;EGR2_HUMAN	V	408;408;358	ENSP00000242480:A408V;ENSP00000402040:A408V;ENSP00000387634:A358V	ENSP00000242480:A408V	A	-	2	0	EGR2	64243181	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.601000	0.98297	1.266000	0.44231	0.655000	0.94253	GCC		0.602	EGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048245.2	NM_000399		5	184	0	0	0	1	0	5	184				
TCEB3CL	728929	broad.mit.edu	37	18	44549186	44549186	+	Silent	SNP	C	C	T			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr18:44549186C>T	ENST00000451265.1	-	1	1348	c.1113G>A	c.(1111-1113)acG>acA	p.T371T	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron	NM_001100817.1	NP_001094287.1	Q3SY89	EA3L1_HUMAN	transcription elongation factor B polypeptide 3C-like	371	Activation domain. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|lung(1)|prostate(1)	3						GCTGATCGGGCGTCCACCCTT	0.582																																						ENST00000451265.1																			0				central_nervous_system(1)|lung(1)|prostate(1)	3						c.(1111-1113)acG>acA		transcription elongation factor B polypeptide 3C-like							260.0	221.0	234.0					18																	44549186		1740	3470	5210	SO:0001819	synonymous_variant	728929							g.chr18:44549186C>T			18q21.1	2007-07-10				ENSG00000275553			31007	protein-coding gene	gene with protein product							Standard	NM_001100817		Approved	HsT828		Q3SY89		ENST00000451265.1:c.1113G>A	18.37:g.44549186C>T						KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	p.T371T	NM_001100817.1	NP_001094287.1					1	1348	-								Q3MI93	Silent	SNP	ENST00000451265.1	37	c.1113G>A	CCDS42433.1																																																																																				0.582	TCEB3CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451071.1	XM_001132059		13	1222	0	0	0	1	0	13	1222				
TTC17	55761	broad.mit.edu	37	11	43515339	43515339	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr11:43515339C>T	ENST00000039989.4	+	24	3325	c.3311C>T	c.(3310-3312)gCa>gTa	p.A1104V		NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	1104					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						TTTGAAAAAGCACTGGTGTGG	0.463																																						ENST00000039989.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						c.(3310-3312)gCa>gTa		tetratricopeptide repeat domain 17							181.0	174.0	177.0					11																	43515339		2203	4300	6503	SO:0001583	missense	55761						binding	g.chr11:43515339C>T	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"""Tetratricopeptide (TTC) repeat domain containing"""	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.3311C>T	11.37:g.43515339C>T	ENSP00000039989:p.Ala1104Val						p.A1104V	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN			24	3325	+			1104					G3XAB3|Q8NEC0	Missense_Mutation	SNP	ENST00000039989.4	37	c.3311C>T	CCDS31466.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.51|14.51	2.557094|2.557094	0.45590|0.45590	.|.	.|.	ENSG00000052841|ENSG00000052841	ENST00000039989|ENST00000418561	D|.	0.94613|.	-3.47|.	5.72|5.72	4.8|4.8	0.61643|0.61643	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71221|0.71221	0.3314|0.3314	M|M	0.65975|0.65975	2.015|2.015	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.83275|.	0.996|.	T|T	0.70824|0.70824	-0.4767|-0.4767	10|5	0.87932|.	D|.	0|.	-11.7453|-11.7453	14.4125|14.4125	0.67124|0.67124	0.1479:0.8521:0.0:0.0|0.1479:0.8521:0.0:0.0	.|.	1104|.	Q96AE7|.	TTC17_HUMAN|.	V|Y	1104|135	ENSP00000039989:A1104V|.	ENSP00000039989:A1104V|.	A|H	+|+	2|1	0|0	TTC17|TTC17	43471915|43471915	1.000000|1.000000	0.71417|0.71417	0.086000|0.086000	0.20670|0.20670	0.005000|0.005000	0.04900|0.04900	7.487000|7.487000	0.81328|0.81328	1.388000|1.388000	0.46506|0.46506	-0.181000|-0.181000	0.13052|0.13052	GCA|CAC		0.463	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259		62	172	0	0	0	1	0	62	172				
SERPINA3	12	broad.mit.edu	37	14	95085593	95085593	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr14:95085593G>C	ENST00000467132.1	+	3	1853	c.705G>C	c.(703-705)aaG>aaC	p.K235N	SERPINA3_ENST00000482740.1_Missense_Mutation_p.K17N|SERPINA3_ENST00000393078.3_Missense_Mutation_p.K235N|RP11-986E7.7_ENST00000553947.1_3'UTR|SERPINA3_ENST00000393080.4_Missense_Mutation_p.K235N			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	235					acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of endopeptidase activity (GO:0010951)|regulation of lipid metabolic process (GO:0019216)|regulation of proteolysis (GO:0030162)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	DNA binding (GO:0003677)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		ACTTGAGCAAGAAAAAGTGGG	0.507																																						ENST00000553947.1																			0				NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40						c.(778-780)aaG>aaC		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3							153.0	118.0	130.0					14																	95085593		2203	4300	6503	SO:0001583	missense	12				acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity	g.chr14:95085593G>C	K01500	CCDS32150.1	14q32.1	2014-06-03	2005-08-18		ENSG00000196136	ENSG00000196136		"""Serine (or cysteine) peptidase inhibitors"""	16	protein-coding gene	gene with protein product		107280	"""alpha-1-antichymotrypsin"", ""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3"""	AACT		3260956, 24172014	Standard	NM_001085		Approved	ACT, alpha-1-antichymotrypsin	uc001ydp.3	P01011	OTTHUMG00000029851	ENST00000467132.1:c.705G>C	14.37:g.95085593G>C	ENSP00000450540:p.Lys235Asn					SERPINA3_ENST00000467132.1_Missense_Mutation_p.K235N|SERPINA3_ENST00000482740.1_Missense_Mutation_p.K17N|SERPINA3_ENST00000393080.4_Missense_Mutation_p.K235N|SERPINA3_ENST00000393078.3_Missense_Mutation_p.K235N|SERPINA3_ENST00000556388.1_Intron	p.K260N			P01011	AACT_HUMAN		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)	6	1668	+		all_cancers(154;0.0525)|all_epithelial(191;0.179)	235					B3KVQ7|Q13703|Q2TU87|Q2TU88|Q59GP9|Q6LBY8|Q6LDT7|Q6NSC9|Q8N177|Q96DW8|Q9UC47|Q9UNU9	Missense_Mutation	SNP	ENST00000467132.1	37	c.780G>C	CCDS32150.1	.	.	.	.	.	.	.	.	.	.	G	6.965	0.547903	0.13312	.	.	ENSG00000196136	ENST00000553947;ENST00000393078;ENST00000393080;ENST00000555820;ENST00000467132;ENST00000482740	D;D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28;-2.28	4.66	-0.955	0.10356	Serpin domain (3);	1.387020	0.04680	N	0.412240	T	0.81074	0.4747	L	0.43152	1.355	0.09310	N	1	B;B	0.20780	0.048;0.017	B;B	0.27715	0.082;0.022	T	0.64097	-0.6487	10	0.49607	T	0.09	.	1.7761	0.03022	0.2456:0.2299:0.3942:0.1304	.	235;260	P01011;G3V5I3	AACT_HUMAN;.	N	260;235;235;235;235;17	ENSP00000452367:K260N;ENSP00000376793:K235N;ENSP00000376795:K235N;ENSP00000450540:K235N;ENSP00000451119:K17N	ENSP00000376793:K235N	K	+	3	2	SERPINA3	94155346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.642000	0.02006	-0.051000	0.13334	-1.334000	0.01262	AAG		0.507	SERPINA3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268080.3	NM_001085		38	38	0	0	0	1	0	38	38				
HCK	3055	broad.mit.edu	37	20	30659555	30659555	+	Silent	SNP	C	C	T	rs112610391	byFrequency	TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr20:30659555C>T	ENST00000520553.1	+	2	336	c.90C>T	c.(88-90)taC>taT	p.Y30Y	HCK_ENST00000518730.1_Silent_p.Y30Y|HCK_ENST00000375862.2_Silent_p.Y51Y|HCK_ENST00000375852.2_Silent_p.Y51Y|HCK_ENST00000534862.1_Silent_p.Y31Y|HCK_ENST00000538448.1_Silent_p.Y30Y	NM_001172129.1|NM_001172130.1|NM_001172131.1|NM_002110.3	NP_001165600.1|NP_001165601.1|NP_001165602.1|NP_002101.2	P08631	HCK_HUMAN	HCK proto-oncogene, Src family tyrosine kinase	51					cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|innate immune response-activating signal transduction (GO:0002758)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte degranulation (GO:0043299)|leukocyte migration involved in immune response (GO:0002522)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|regulation of inflammatory response (GO:0050727)|regulation of phagocytosis (GO:0050764)|regulation of podosome assembly (GO:0071801)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|respiratory burst after phagocytosis (GO:0045728)|viral process (GO:0016032)	caveola (GO:0005901)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		Bosutinib(DB06616)	GTCCTGTGTACGTGCCGGATC	0.582																																						ENST00000534862.1																			0				NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36						c.(91-93)taC>taT		hemopoietic cell kinase							94.0	75.0	81.0					20																	30659555		2203	4300	6503	SO:0001819	synonymous_variant	3055				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr20:30659555C>T	AK026432	CCDS33460.1, CCDS54453.1, CCDS54455.1, CCDS54456.1	20q11-q12	2014-06-25	2014-06-25		ENSG00000101336	ENSG00000101336		"""SH2 domain containing"""	4840	protein-coding gene	gene with protein product		142370	"""hemopoietic cell kinase"""			3496523	Standard	NM_002110		Approved	JTK9	uc002wxh.3	P08631	OTTHUMG00000032204	ENST00000520553.1:c.90C>T	20.37:g.30659555C>T						HCK_ENST00000520553.1_Silent_p.Y30Y|HCK_ENST00000375852.2_Silent_p.Y51Y|HCK_ENST00000375862.2_Silent_p.Y51Y|HCK_ENST00000518730.1_Silent_p.Y30Y|HCK_ENST00000538448.1_Silent_p.Y30Y	p.Y31Y	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		3	456	+			51					A8K1I1|B4DQB6|E1P5M2|Q29RX1|Q2VPE2|Q504R5|Q5T7K1|Q5T7K2|Q96CC0|Q9H5Y5|Q9NUA4|Q9UMJ5	Silent	SNP	ENST00000520553.1	37	c.93C>T	CCDS54455.1																																																																																				0.582	HCK-006	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000375751.1			9	74	0	0	0	1	0	9	74				
TTC12	54970	broad.mit.edu	37	11	113211422	113211422	+	Missense_Mutation	SNP	T	T	A			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr11:113211422T>A	ENST00000529221.1	+	11	968	c.863T>A	c.(862-864)tTt>tAt	p.F288Y	TTC12_ENST00000483239.2_Missense_Mutation_p.F294Y|TTC12_ENST00000393020.1_Missense_Mutation_p.F288Y|TTC12_ENST00000314756.3_Missense_Mutation_p.F288Y	NM_017868.3	NP_060338.3	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	288										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		CACAATGGATTTAGTATCATC	0.438																																						ENST00000393020.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(862-864)tTt>tAt		tetratricopeptide repeat domain 12							134.0	120.0	125.0					11																	113211422		2201	4296	6497	SO:0001583	missense	54970						binding	g.chr11:113211422T>A	AK000542	CCDS8360.2	11q23.2	2013-01-10			ENSG00000149292	ENSG00000149292		"""Tetratricopeptide (TTC) repeat domain containing"""	23700	protein-coding gene	gene with protein product		610732				12964006	Standard	XM_005271607		Approved	FLJ13859, FLJ20535, TPARM	uc001pnu.3	Q9H892	OTTHUMG00000142832	ENST00000529221.1:c.863T>A	11.37:g.113211422T>A	ENSP00000433757:p.Phe288Tyr					TTC12_ENST00000483239.2_Missense_Mutation_p.F294Y|TTC12_ENST00000529221.1_Missense_Mutation_p.F288Y|TTC12_ENST00000314756.3_Missense_Mutation_p.F288Y	p.F288Y			Q9H892	TTC12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)	11	1268	+		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)	288					Q8N5H9|Q9NWY3	Missense_Mutation	SNP	ENST00000529221.1	37	c.863T>A	CCDS8360.2	.	.	.	.	.	.	.	.	.	.	T	22.5	4.300684	0.81136	.	.	ENSG00000149292	ENST00000529221;ENST00000314756;ENST00000525965;ENST00000393020;ENST00000483239	T;T;T;T;T	0.68331	1.76;1.67;-0.32;1.63;1.73	5.22	5.22	0.72569	Armadillo-type fold (1);	0.162585	0.56097	D	0.000034	T	0.78027	0.4219	M	0.77103	2.36	0.41691	D	0.989346	D;D	0.64830	0.994;0.994	P;P	0.58130	0.833;0.833	T	0.81493	-0.0908	10	0.66056	D	0.02	-24.524	12.9047	0.58145	0.0:0.0:0.0:1.0	.	288;288	A8K8G6;Q9H892	.;TTC12_HUMAN	Y	288;288;244;288;294	ENSP00000433757:F288Y;ENSP00000315160:F288Y;ENSP00000435308:F244Y;ENSP00000376743:F288Y;ENSP00000419652:F294Y	ENSP00000315160:F288Y	F	+	2	0	TTC12	112716632	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	5.579000	0.67457	2.096000	0.63516	0.528000	0.53228	TTT		0.438	TTC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286455.2	NM_017868		7	63	0	0	0	1	0	7	63				
TRIM54	57159	broad.mit.edu	37	2	27505759	27505759	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr2:27505759G>A	ENST00000380075.2	+	1	500	c.160G>A	c.(160-162)Gtc>Atc	p.V54I	TRIM54_ENST00000296098.4_Missense_Mutation_p.V54I	NM_187841.2	NP_912730.2	Q9BYV2	TRI54_HUMAN	tripartite motif containing 54	54					cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|negative regulation of microtubule depolymerization (GO:0007026)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCCAACGACGTCTTCCAGGT	0.592																																						ENST00000296098.4																			0				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(160-162)Gtc>Atc		tripartite motif containing 54							177.0	156.0	163.0					2																	27505759		2203	4300	6503	SO:0001583	missense	57159				cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding	g.chr2:27505759G>A	AJ291714	CCDS1745.2, CCDS1746.2	2p23.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000138100	ENSG00000138100		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16008	protein-coding gene	gene with protein product		606474	"""ring finger protein 30"", ""tripartite motif-containing 54"""	RNF30		11243782	Standard	NM_032546		Approved	MURF, MURF-3	uc002rjn.3	Q9BYV2	OTTHUMG00000097078	ENST00000380075.2:c.160G>A	2.37:g.27505759G>A	ENSP00000369415:p.Val54Ile					TRIM54_ENST00000380075.2_Missense_Mutation_p.V54I	p.V54I	NM_032546.3	NP_115935.3	Q9BYV2	TRI54_HUMAN			1	430	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		54					A5D8T7|Q53SY4|Q9BYV3	Missense_Mutation	SNP	ENST00000380075.2	37	c.160G>A	CCDS1746.2	.	.	.	.	.	.	.	.	.	.	G	6.665	0.491292	0.12702	.	.	ENSG00000138100	ENST00000380075;ENST00000296098	T;T	0.16743	2.32;2.32	5.49	5.49	0.81192	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.072630	0.64402	D	0.000018	T	0.09158	0.0226	N	0.10972	0.075	0.58432	D	0.999997	B;B	0.18013	0.003;0.025	B;B	0.15870	0.009;0.014	T	0.08371	-1.0725	10	0.02654	T	1	-26.3073	16.858	0.86010	0.0:0.0:1.0:0.0	.	54;54	Q9BYV2;Q9BYV2-2	TRI54_HUMAN;.	I	54	ENSP00000369415:V54I;ENSP00000296098:V54I	ENSP00000296098:V54I	V	+	1	0	TRIM54	27359263	0.116000	0.22171	0.997000	0.53966	0.939000	0.58152	0.567000	0.23608	2.568000	0.86640	0.462000	0.41574	GTC		0.592	TRIM54-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214199.2	NM_187841		6	322	0	0	0	1	0	6	322				
SLC17A1	6568	broad.mit.edu	37	6	25813406	25813406	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr6:25813406C>T	ENST00000244527.4	-	7	767	c.652G>A	c.(652-654)Gtt>Att	p.V218I	SLC17A1_ENST00000427328.1_Missense_Mutation_p.V218I|SLC17A1_ENST00000476801.1_Missense_Mutation_p.V218I|SLC17A1_ENST00000468082.1_Missense_Mutation_p.V218I	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	218					ion transport (GO:0006811)|phosphate ion transport (GO:0006817)|sodium ion transport (GO:0006814)|sodium-dependent phosphate transport (GO:0044341)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						TAAAACAGAACGAACCAGAGA	0.458																																						ENST00000244527.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						c.(652-654)Gtt>Att		solute carrier family 17 (organic anion transporter), member 1							144.0	134.0	137.0					6																	25813406		2203	4300	6503	SO:0001583	missense	6568				sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity	g.chr6:25813406C>T		CCDS4565.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124568	ENSG00000124568		"""Solute carriers"""	10929	protein-coding gene	gene with protein product		182308	"""solute carrier family 17 (sodium phosphate), member 1"""	NPT1		8288239	Standard	NM_005074		Approved	NAPI-1	uc003nfh.4	Q14916	OTTHUMG00000016297	ENST00000244527.4:c.652G>A	6.37:g.25813406C>T	ENSP00000244527:p.Val218Ile					SLC17A1_ENST00000468082.1_Missense_Mutation_p.V218I|SLC17A1_ENST00000427328.1_Missense_Mutation_p.V218I|SLC17A1_ENST00000476801.1_Missense_Mutation_p.V218I	p.V218I	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN			7	767	-			218					A8K418|O60761|Q13783|Q3MIP5|Q5MJP8|Q5TB83|Q96KL8	Missense_Mutation	SNP	ENST00000244527.4	37	c.652G>A	CCDS4565.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.290064	0.00019	.	.	ENSG00000124568	ENST00000244527;ENST00000427328;ENST00000476801;ENST00000468082	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	3.83	-7.65	0.01281	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.858120	0.03158	N	0.168925	T	0.07279	0.0184	N	0.12663	0.25	0.09310	N	1	B;B	0.12630	0.005;0.006	B;B	0.13407	0.005;0.009	T	0.07347	-1.0777	10	0.10377	T	0.69	.	0.6119	0.00763	0.2991:0.1154:0.2412:0.3442	.	218;218	Q14916-2;Q14916	.;NPT1_HUMAN	I	218	ENSP00000244527:V218I;ENSP00000410549:V218I;ENSP00000420614:V218I;ENSP00000420546:V218I	ENSP00000244527:V218I	V	-	1	0	SLC17A1	25921385	0.000000	0.05858	0.000000	0.03702	0.075000	0.17131	-9.308000	0.00012	-5.184000	0.00020	-3.091000	0.00065	GTT		0.458	SLC17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043647.2			4	85	0	0	0	1	0	4	85				
KLF3	51274	broad.mit.edu	37	4	38690343	38690343	+	Silent	SNP	G	G	A	rs373502495		TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr4:38690343G>A	ENST00000261438.5	+	3	500	c.195G>A	c.(193-195)acG>acA	p.T65T	KLF3_ENST00000514033.1_Silent_p.T65T	NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	65	Pro-rich.|Repressor domain.				cellular response to peptide (GO:1901653)|multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						TGGACCTCACGGTGAACAAGC	0.567																																						ENST00000261438.5																			0				endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						c.(193-195)acG>acA		Kruppel-like factor 3 (basic)		G		0,4406		0,0,2203	78.0	66.0	70.0		195	-8.0	0.6	4		70	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KLF3	NM_016531.5		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		65/346	38690343	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51274				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:38690343G>A	AF285837	CCDS3444.1	4p16.1-p15.2	2013-01-08			ENSG00000109787	ENSG00000109787		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	16516	protein-coding gene	gene with protein product	"""basic Kruppel-like factor"""	609392				18391014	Standard	NM_016531		Approved	BKLF	uc003gth.4	P57682	OTTHUMG00000097821	ENST00000261438.5:c.195G>A	4.37:g.38690343G>A						KLF3_ENST00000514033.1_Silent_p.T65T	p.T65T	NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN			3	500	+			65			Pro-rich.|Repressor domain.		Q6PIR1|Q86TN0|Q9P2X6	Silent	SNP	ENST00000261438.5	37	c.195G>A	CCDS3444.1																																																																																				0.567	KLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215093.2			9	78	0	0	0	1	0	9	78				
TJP3	27134	broad.mit.edu	37	19	3730650	3730650	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr19:3730650G>T	ENST00000541714.2	+	5	1021	c.559G>T	c.(559-561)Gac>Tac	p.D187Y	TJP3_ENST00000382008.3_Missense_Mutation_p.D187Y|TJP3_ENST00000589378.1_Missense_Mutation_p.D196Y|TJP3_ENST00000262968.9_Missense_Mutation_p.D206Y|TJP3_ENST00000587686.1_Missense_Mutation_p.D206Y|TJP3_ENST00000539908.2_Missense_Mutation_p.D151Y	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	187					regulation of G1/S transition of mitotic cell cycle (GO:2000045)	apical plasma membrane (GO:0016324)|nucleus (GO:0005634)|tight junction (GO:0005923)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCACGGCAGGACGTGCAGAT	0.657																																						ENST00000541714.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26						c.(559-561)Gac>Tac		tight junction protein 3							47.0	41.0	43.0					19																	3730650		2181	4254	6435	SO:0001583	missense	27134					tight junction	protein binding	g.chr19:3730650G>T	AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289			11829	protein-coding gene	gene with protein product	"""zona occludens 3"""	612689					Standard	NM_001267560		Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.559G>T	19.37:g.3730650G>T	ENSP00000439278:p.Asp187Tyr					TJP3_ENST00000539908.2_Missense_Mutation_p.D151Y|TJP3_ENST00000587686.1_Missense_Mutation_p.D206Y|TJP3_ENST00000262968.9_Missense_Mutation_p.D206Y|TJP3_ENST00000382008.3_Missense_Mutation_p.D187Y|TJP3_ENST00000589378.1_Missense_Mutation_p.D196Y	p.D187Y	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)	5	1021	+			187					A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Missense_Mutation	SNP	ENST00000541714.2	37	c.559G>T	CCDS32873.2	.	.	.	.	.	.	.	.	.	.	G	15.89	2.967500	0.53507	.	.	ENSG00000105289	ENST00000541714;ENST00000539908;ENST00000382008;ENST00000262968	T;T;T;T	0.08984	3.03;3.19;3.04;3.13	4.6	4.6	0.57074	PDZ/DHR/GLGF (1);	0.290726	0.31989	N	0.006751	T	0.20577	0.0495	L	0.36672	1.1	0.53688	D	0.999973	D;D;D;D	0.89917	1.0;0.994;1.0;1.0	D;D;D;D	0.80764	0.994;0.931;0.98;0.994	T	0.01287	-1.1395	10	0.66056	D	0.02	.	16.3916	0.83542	0.0:0.0:1.0:0.0	.	206;206;187;187	O95049-3;O95049-2;O95049;F5H2X0	.;.;ZO3_HUMAN;.	Y	187;151;187;206	ENSP00000439278:D187Y;ENSP00000439991:D151Y;ENSP00000371438:D187Y;ENSP00000262968:D206Y	ENSP00000262968:D206Y	D	+	1	0	TJP3	3681650	1.000000	0.71417	0.997000	0.53966	0.330000	0.28571	4.375000	0.59549	2.095000	0.63458	0.491000	0.48974	GAC		0.657	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453434.1			6	82	1	0	0.00116845	1	0.00124739	6	82				
KDM1A	23028	broad.mit.edu	37	1	23405608	23405608	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr1:23405608C>T	ENST00000356634.3	+	15	2070	c.1921C>T	c.(1921-1923)Cca>Tca	p.P641S	RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000542151.1_Missense_Mutation_p.P665S|KDM1A_ENST00000400181.4_Missense_Mutation_p.P665S	NM_015013.3	NP_055828.2	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	641	Demethylase activity.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|histone H3-K4 demethylation (GO:0034720)|histone H3-K9 demethylation (GO:0033169)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of DNA binding (GO:0043392)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of protein binding (GO:0032091)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein demethylation (GO:0006482)|regulation of primitive erythrocyte differentiation (GO:0010725)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|demethylase activity (GO:0032451)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-K4 specific) (GO:0032453)|histone demethylase activity (H3-K9 specific) (GO:0032454)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|MRF binding (GO:0043426)|oxidoreductase activity (GO:0016491)|p53 binding (GO:0002039)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TCAGTTTGTGCCACCTCTCCC	0.512																																						ENST00000400181.4																			0				breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(1993-1995)Cca>Tca		lysine (K)-specific demethylase 1A							99.0	98.0	99.0					1																	23405608		2203	4300	6503	SO:0001583	missense	23028				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|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 transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding	g.chr1:23405608C>T	AL031428	CCDS30627.1, CCDS53278.1	1p36.12	2011-07-01	2009-09-29	2009-09-29	ENSG00000004487	ENSG00000004487		"""Chromatin-modifying enzymes / K-demethylases"""	29079	protein-coding gene	gene with protein product		609132	"""amine oxidase (flavin containing) domain 2"", ""lysine (K)-specific demethylase 1"""	AOF2, KDM1		9628581, 12493763	Standard	NM_015013		Approved	KIAA0601, BHC110, LSD1	uc001bgj.2	O60341	OTTHUMG00000003220	ENST00000356634.3:c.1921C>T	1.37:g.23405608C>T	ENSP00000349049:p.Pro641Ser					KDM1A_ENST00000542151.1_Missense_Mutation_p.P665S|KDM1A_ENST00000356634.3_Missense_Mutation_p.P641S|RP1-184J9.2_ENST00000427154.1_RNA	p.P665S	NM_001009999.2	NP_001009999.1	O60341	KDM1A_HUMAN			17	2097	+			641			Demethylase activity.		A8MWP9|Q5TH94|Q5TH95|Q86VT7|Q8IXK4|Q8NDP6|Q8TAZ3|Q96AW4	Missense_Mutation	SNP	ENST00000356634.3	37	c.1993C>T	CCDS30627.1	.	.	.	.	.	.	.	.	.	.	C	34	5.379367	0.95945	.	.	ENSG00000004487	ENST00000356634;ENST00000400181;ENST00000542151	D;D;D	0.96300	-3.97;-3.97;-3.97	5.92	5.92	0.95590	Amine oxidase (1);	0.000000	0.85682	D	0.000000	D	0.98963	0.9647	H	0.97265	3.97	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99239	1.0884	10	0.87932	D	0	-17.0866	19.3225	0.94248	0.0:1.0:0.0:0.0	.	665;641	O60341-2;O60341	.;KDM1A_HUMAN	S	641;665;665	ENSP00000349049:P641S;ENSP00000383042:P665S;ENSP00000439072:P665S	ENSP00000349049:P641S	P	+	1	0	KDM1A	23278195	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.800000	0.85949	2.822000	0.97130	0.650000	0.86243	CCA		0.512	KDM1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008880.3	NM_015013		6	169	0	0	0	1	0	6	169				
PDZD2	23037	broad.mit.edu	37	5	32072325	32072325	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr5:32072325C>G	ENST00000438447.1	+	17	3015	c.2627C>G	c.(2626-2628)cCc>cGc	p.P876R	PDZD2_ENST00000282493.3_Missense_Mutation_p.P876R			O15018	PDZD2_HUMAN	PDZ domain containing 2	876					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GTCCCTGGCCCCTTGTCAGAC	0.547																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(2626-2628)cCc>cGc		PDZ domain containing 2							131.0	125.0	127.0					5																	32072325		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32072325C>G	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.2627C>G	5.37:g.32072325C>G	ENSP00000402033:p.Pro876Arg					PDZD2_ENST00000282493.3_Missense_Mutation_p.P876R	p.P876R			O15018	PDZD2_HUMAN			17	3015	+			876					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.2627C>G	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	C	11.11	1.543551	0.27563	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.06294	3.32;3.32	5.68	1.9	0.25705	.	0.293167	0.24983	N	0.034051	T	0.05823	0.0152	N	0.24115	0.695	0.09310	N	1	P;P	0.50272	0.779;0.933	B;P	0.48030	0.168;0.564	T	0.27434	-1.0074	10	0.72032	D	0.01	.	5.2162	0.15344	0.1461:0.6173:0.0:0.2366	.	702;876	B4E3P2;O15018	.;PDZD2_HUMAN	R	876;680;876	ENSP00000402033:P876R;ENSP00000282493:P876R	ENSP00000282493:P876R	P	+	2	0	PDZD2	32108082	0.131000	0.22433	0.025000	0.17156	0.134000	0.20937	1.873000	0.39558	0.324000	0.23333	-0.251000	0.11542	CCC		0.547	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			12	125	0	0	0	1	0	12	125				
HRH1	3269	broad.mit.edu	37	3	11300958	11300958	+	Missense_Mutation	SNP	G	G	A	rs200571067	byFrequency	TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr3:11300958G>A	ENST00000397056.1	+	3	426	c.235G>A	c.(235-237)Gtc>Atc	p.V79I	HRH1_ENST00000438284.2_Missense_Mutation_p.V79I|HRH1_ENST00000431010.2_Missense_Mutation_p.V79I	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	79					cellular response to histamine (GO:0071420)|eosinophil chemotaxis (GO:0048245)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|inositol phosphate-mediated signaling (GO:0048016)|memory (GO:0007613)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|regulation of vascular permeability (GO:0043114)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|histamine receptor activity (GO:0004969)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Alcaftadine(DB06766)|Alimemazine(DB01246)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Antazoline(DB08799)|Aripiprazole(DB01238)|Asenapine(DB06216)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzatropine(DB00245)|Bepotastine(DB04890)|Betahistine(DB06698)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlorcyclizine(DB08936)|Chloropyramine(DB08800)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Citalopram(DB00215)|Clemastine(DB00283)|Clofedanol(DB04837)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Dimetindene(DB08801)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Escitalopram(DB01175)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Iloperidone(DB04946)|Imipramine(DB00458)|Isothipendyl(DB08802)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Loxapine(DB00408)|Maprotiline(DB00934)|Meclizine(DB00737)|Mepyramine(DB06691)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Paliperidone(DB01267)|Phenindamine(DB01619)|Pheniramine(DB01620)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	CGTGGGTGCCGTCGTCATGCC	0.582													G|||	3	0.000599042	0.0	0.0029	5008	,	,		20103	0.0		0.0	False		,,,				2504	0.001					ENST00000397056.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(235-237)Gtc>Atc		histamine receptor H1	Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	170.0	137.0	148.0		235,235,235,235	3.2	0.0	3		148	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	HRH1	NM_001098213.1,NM_001098212.1,NM_001098211.1,NM_000861.3	29,29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign	79/488,79/488,79/488,79/488	11300958	1,13005	2203	4300	6503	SO:0001583	missense	3269				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity	g.chr3:11300958G>A		CCDS2604.1	3p25	2012-11-12			ENSG00000196639	ENSG00000196639		"""GPCR / Class A : Histamine receptors"""	5182	protein-coding gene	gene with protein product		600167				8003029	Standard	NM_001098211		Approved		uc010hds.3	P35367	OTTHUMG00000129719	ENST00000397056.1:c.235G>A	3.37:g.11300958G>A	ENSP00000380247:p.Val79Ile					HRH1_ENST00000431010.2_Missense_Mutation_p.V79I|HRH1_ENST00000438284.2_Missense_Mutation_p.V79I	p.V79I	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN			3	426	+			79					A8K047|Q6P9E5	Missense_Mutation	SNP	ENST00000397056.1	37	c.235G>A	CCDS2604.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	6.083	0.383551	0.11524	0.0	1.16E-4	ENSG00000196639	ENST00000438284;ENST00000431010;ENST00000397056	T;T;T	0.72725	-0.68;-0.68;-0.68	5.87	3.15	0.36227	GPCR, rhodopsin-like superfamily (1);	0.231690	0.43579	N	0.000555	T	0.53158	0.1779	N	0.20685	0.6	0.09310	N	1	B	0.14012	0.009	B	0.12837	0.008	T	0.37126	-0.9719	10	0.30078	T	0.28	-13.1373	11.1049	0.48197	0.1963:0.0:0.8037:0.0	.	79	P35367	HRH1_HUMAN	I	79	ENSP00000406705:V79I;ENSP00000397028:V79I;ENSP00000380247:V79I	ENSP00000380247:V79I	V	+	1	0	HRH1	11275958	0.336000	0.24757	0.001000	0.08648	0.748000	0.42578	2.586000	0.46119	0.406000	0.25560	0.655000	0.94253	GTC		0.582	HRH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251928.2			6	99	0	0	0	1	0	6	99				
BCRP7	100133163	broad.mit.edu	37	22	18844763	18844763	+	3'UTR	SNP	T	T	C	rs1064849		TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr22:18844763T>C	ENST00000412938.1	+	0	3013																											TCACAGCCTCTGAGGGCAGCA	0.562																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18844763T>C																												ENST00000412938.1:c.*3010T>C	22.37:g.18844763T>C														0	3013	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.562	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			4	26	0	0	0	1	0	4	26				
CFAP61	26074	broad.mit.edu	37	20	20056252	20056252	+	Missense_Mutation	SNP	A	A	C			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr20:20056252A>C	ENST00000245957.5	+	6	635	c.559A>C	c.(559-561)Aaa>Caa	p.K187Q	C20orf26_ENST00000451767.2_Missense_Mutation_p.K187Q|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377306.1_Missense_Mutation_p.K187Q|C20orf26_ENST00000377309.2_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		187										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		GCACGTTCGCAAAGCCAGGTA	0.478																																						ENST00000245957.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77						c.(559-561)Aaa>Caa		chromosome 20 open reading frame 26							138.0	128.0	131.0					20																	20056252		2203	4300	6503	SO:0001583	missense	26074							g.chr20:20056252A>C																												ENST00000245957.5:c.559A>C	20.37:g.20056252A>C	ENSP00000245957:p.Lys187Gln					C20orf26_ENST00000451767.2_Missense_Mutation_p.K187Q|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377306.1_Missense_Mutation_p.K187Q|C20orf26_ENST00000377309.2_5'UTR	p.K187Q	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	6	635	+			187					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	c.559A>C	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	A	7.612	0.674918	0.14841	.	.	ENSG00000089101	ENST00000340348;ENST00000343997;ENST00000389655;ENST00000245957;ENST00000377306;ENST00000377303;ENST00000451767;ENST00000472660	T;T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23;1.23	5.9	2.12	0.27331	Acyl-CoA N-acyltransferase (2);	0.562859	0.18709	N	0.133368	T	0.25269	0.0614	L	0.54323	1.7	0.09310	N	0.999998	B;B;B;B	0.34290	0.029;0.058;0.447;0.16	B;B;B;B	0.28991	0.022;0.046;0.097;0.055	T	0.11421	-1.0588	10	0.24483	T	0.36	.	4.5972	0.12336	0.648:0.1596:0.1924:0.0	.	187;187;141;187	Q8NHU2-3;F8W6K4;F8W6E2;Q8NHU2	.;.;.;CT026_HUMAN	Q	141;187;187;187;187;187;187;83	ENSP00000345553:K141Q;ENSP00000245957:K187Q;ENSP00000366521:K187Q;ENSP00000366518:K187Q;ENSP00000414537:K187Q;ENSP00000420498:K83Q	ENSP00000245957:K187Q	K	+	1	0	C20orf26	20004252	0.087000	0.21565	0.095000	0.20976	0.161000	0.22273	1.417000	0.34770	0.440000	0.26502	0.528000	0.53228	AAA		0.478	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			7	104	0	0	0	1	0	7	104				
BTN2A3P	54718	broad.mit.edu	37	6	26431579	26431579	+	RNA	SNP	C	C	A			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr6:26431579C>A	ENST00000466808.2	+	0	1527							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)											AGAATCAGTTCCCCAGTCTCA	0.587																																						ENST00000466808.2																			0																				145.0	120.0	128.0					6																	26431579		2203	4300	6503			0							g.chr6:26431579C>A	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26431579C>A														0	1527	+								A6NEF4	RNA	SNP	ENST00000466808.2	37																																																																																						0.587	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		5	94	1	0	0.014758	1	0.0153405	5	94				
PRG4	10216	broad.mit.edu	37	1	186275982	186275982	+	Silent	SNP	C	C	T			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr1:186275982C>T	ENST00000445192.2	+	7	1176	c.1131C>T	c.(1129-1131)acC>acT	p.T377T	PRG4_ENST00000367484.3_Silent_p.T336T|PRG4_ENST00000367485.4_Silent_p.T284T|PRG4_ENST00000367486.3_Silent_p.T334T|PRG4_ENST00000367483.4_Silent_p.T336T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	377	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCCACCACCCCCAAGGAGC	0.637																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1129-1131)acC>acT		proteoglycan 4							171.0	164.0	166.0					1																	186275982		2203	4300	6503	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186275982C>T	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1131C>T	1.37:g.186275982C>T						PRG4_ENST00000367483.4_Silent_p.T336T|PRG4_ENST00000367484.3_Silent_p.T336T|PRG4_ENST00000367486.3_Silent_p.T334T|PRG4_ENST00000367485.4_Silent_p.T284T	p.T377T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1176	+			377			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.1131C>T	CCDS1369.1																																																																																				0.637	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		5	222	0	0	0	1	0	5	222				
ELAVL2	1993	broad.mit.edu	37	9	23701564	23701564	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr9:23701564G>A	ENST00000397312.2	-	5	800	c.526C>T	c.(526-528)Cga>Tga	p.R176*	ELAVL2_ENST00000380110.4_Nonsense_Mutation_p.R205*|ELAVL2_ENST00000544538.1_Nonsense_Mutation_p.R176*|ELAVL2_ENST00000380117.1_Nonsense_Mutation_p.R176*|ELAVL2_ENST00000223951.6_Nonsense_Mutation_p.R176*	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	176	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R176*(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		GCCTCAATTCGCTTGTCAAAT	0.443																																						ENST00000397312.2																			1	Substitution - Nonsense(1)	p.R176*(1)	large_intestine(1)	breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39						c.(526-528)Cga>Tga		ELAV like neuron-specific RNA binding protein 2							185.0	187.0	187.0					9																	23701564		2203	4300	6503	SO:0001587	stop_gained	1993				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding	g.chr9:23701564G>A	BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105		"""RNA binding motif (RRM) containing"""	3313	protein-coding gene	gene with protein product	"""Hu antigen B"""	601673	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"""			8812435	Standard	NM_004432		Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.526C>T	9.37:g.23701564G>A	ENSP00000380479:p.Arg176*					ELAVL2_ENST00000380110.4_Nonsense_Mutation_p.R205*|ELAVL2_ENST00000223951.6_Nonsense_Mutation_p.R176*|ELAVL2_ENST00000544538.1_Nonsense_Mutation_p.R176*|ELAVL2_ENST00000380117.1_Nonsense_Mutation_p.R176*	p.R176*	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN		GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)	5	800	-			176			RRM 2.		D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Nonsense_Mutation	SNP	ENST00000397312.2	37	c.526C>T	CCDS6515.1	.	.	.	.	.	.	.	.	.	.	G	39	7.640353	0.98406	.	.	ENSG00000107105	ENST00000223951;ENST00000397312;ENST00000544538;ENST00000380110;ENST00000380117;ENST00000359598;ENST00000423281;ENST00000440102	.	.	.	5.92	5.92	0.95590	.	0.051555	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.0858	0.72151	0.0:0.0:0.8583:0.1417	.	.	.	.	X	176;176;176;176;176;204;41;176	.	ENSP00000223951:R176X	R	-	1	2	ELAVL2	23691564	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.053000	0.41326	2.812000	0.96745	0.563000	0.77884	CGA		0.443	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051943.2	NM_004432		10	127	0	0	0	1	0	10	127				
PLCZ1	89869	broad.mit.edu	37	12	18836192	18836192	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr12:18836192T>C	ENST00000538330.1	-	11	1535	c.1154A>G	c.(1153-1155)tAt>tGt	p.Y385C	PLCZ1_ENST00000534932.1_Missense_Mutation_p.Y84C|PLCZ1_ENST00000435379.1_Missense_Mutation_p.Y408C|PLCZ1_ENST00000539875.1_Missense_Mutation_p.Y410C|PLCZ1_ENST00000447925.2_Missense_Mutation_p.Y601C|PLCZ1_ENST00000541695.1_3'UTR|PLCZ1_ENST00000266505.7_Missense_Mutation_p.Y603C					phospholipase C, zeta 1											NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					GTACCAAACATAAACAAACAG	0.343																																						ENST00000447925.2																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31						c.(1801-1803)tAt>tGt		phospholipase C, zeta 1							117.0	105.0	109.0					12																	18836192		2203	4300	6503	SO:0001583	missense	89869				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr12:18836192T>C	AY035866	CCDS8680.1	12p13.31	2013-01-10			ENSG00000139151	ENSG00000139151	3.1.4.11	"""EF-hand domain containing"""	19218	protein-coding gene	gene with protein product		608075				12117804	Standard	NM_033123		Approved	NYD-SP27, PLCzeta	uc021qvx.2	Q86YW0	OTTHUMG00000168937	ENST00000538330.1:c.1154A>G	12.37:g.18836192T>C	ENSP00000445880:p.Tyr385Cys					PLCZ1_ENST00000539875.1_Missense_Mutation_p.Y410C|PLCZ1_ENST00000541695.1_3'UTR|PLCZ1_ENST00000538330.1_Missense_Mutation_p.Y385C|PLCZ1_ENST00000266505.7_Missense_Mutation_p.Y603C|PLCZ1_ENST00000435379.1_Missense_Mutation_p.Y408C|PLCZ1_ENST00000534932.1_Missense_Mutation_p.Y84C	p.Y601C	NM_033123.2	NP_149114.2	Q86YW0	PLCZ1_HUMAN			15	2071	-	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)		603						Missense_Mutation	SNP	ENST00000538330.1	37	c.1802A>G		.	.	.	.	.	.	.	.	.	.	T	16.04	3.009582	0.54361	.	.	ENSG00000139151	ENST00000534932;ENST00000538330;ENST00000266505;ENST00000447925;ENST00000435379;ENST00000539875	T;T;T;T;T;T	0.13901	2.55;2.55;2.55;2.55;2.55;2.55	5.34	5.34	0.76211	C2 calcium/lipid-binding domain, CaLB (1);	0.142130	0.49916	D	0.000136	T	0.28566	0.0707	L	0.52126	1.63	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.66196	0.862;0.942	T	0.00945	-1.1505	10	0.66056	D	0.02	.	11.6338	0.51192	0.0:0.0:0.0:1.0	.	603;385	Q86YW0;Q8N7S5	PLCZ1_HUMAN;.	C	84;385;603;601;408;410	ENSP00000438826:Y84C;ENSP00000445880:Y385C;ENSP00000266505:Y603C;ENSP00000402358:Y601C;ENSP00000400504:Y408C;ENSP00000445026:Y410C	ENSP00000266505:Y603C	Y	-	2	0	PLCZ1	18727459	0.998000	0.40836	0.935000	0.37517	0.483000	0.33249	5.879000	0.69690	2.240000	0.73641	0.533000	0.62120	TAT		0.343	PLCZ1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000401666.3	NM_033123		3	61	0	0	0	1	0	3	61				
ZDHHC14	79683	broad.mit.edu	37	6	158066844	158066844	+	Silent	SNP	C	C	T			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr6:158066844C>T	ENST00000359775.5	+	6	1717	c.828C>T	c.(826-828)atC>atT	p.I276I	ZDHHC14_ENST00000414563.2_Silent_p.I276I|ZDHHC14_ENST00000341375.8_3'UTR			Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14	276					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		CCTACTTGATCAGCTCCAACC	0.527																																						ENST00000359775.5																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17						c.(826-828)atC>atT		zinc finger, DHHC-type containing 14							165.0	124.0	138.0					6																	158066844		2203	4296	6499	SO:0001819	synonymous_variant	79683					integral to membrane	acyltransferase activity|zinc ion binding	g.chr6:158066844C>T	AF542388	CCDS5252.1, CCDS47510.1	6q25.3	2008-05-02			ENSG00000175048	ENSG00000175048		"""Zinc fingers, DHHC-type"""	20341	protein-coding gene	gene with protein product							Standard	NM_024630		Approved	FLJ20984, NEW1CP	uc003qqt.3	Q8IZN3	OTTHUMG00000015896	ENST00000359775.5:c.828C>T	6.37:g.158066844C>T						ZDHHC14_ENST00000341375.8_3'UTR|ZDHHC14_ENST00000414563.2_Silent_p.I276I	p.I276I			Q8IZN3	ZDH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)	6	1717	+		Breast(66;0.00586)|Ovarian(120;0.123)	276					A6NDB7|Q5JS07|Q5JS08|Q6PHS4|Q8IZN2|Q9H7F1	Silent	SNP	ENST00000359775.5	37	c.828C>T	CCDS5252.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.734075	0.30684	.	.	ENSG00000175048	ENST00000340347	.	.	.	5.37	4.5	0.54988	.	.	.	.	.	T	0.61627	0.2362	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62459	-0.6850	4	.	.	.	-28.4663	14.3464	0.66668	0.1496:0.8504:0.0:0.0	.	.	.	.	L	101	.	.	S	+	2	0	ZDHHC14	157986832	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.185000	0.58330	2.043000	0.60533	0.459000	0.35465	TCA		0.527	ZDHHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042841.2	NM_153746		6	24	0	0	0	1	0	6	24				
LIMK2	3985	broad.mit.edu	37	22	31663038	31663038	+	Silent	SNP	G	G	A			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr22:31663038G>A	ENST00000331728.4	+	9	1224	c.1110G>A	c.(1108-1110)caG>caA	p.Q370Q	LIMK2_ENST00000406516.1_Silent_p.Q292Q|LIMK2_ENST00000444929.2_Silent_p.Q124Q|LIMK2_ENST00000340552.4_Silent_p.Q349Q|LIMK2_ENST00000333611.4_Silent_p.Q349Q	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	370	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				phosphorylation (GO:0016310)|spermatogenesis (GO:0007283)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						AGGAGACCCAGAAAACTTTTC	0.473																																						ENST00000331728.4																			0				endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						c.(1108-1110)caG>caA		LIM domain kinase 2							63.0	54.0	57.0					22																	31663038		2203	4300	6503	SO:0001819	synonymous_variant	3985					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding	g.chr22:31663038G>A	D45906	CCDS13891.1, CCDS13892.1, CCDS33637.1	22q12	2005-01-21			ENSG00000182541	ENSG00000182541			6614	protein-coding gene	gene with protein product		601988				8537403, 10591208	Standard	NM_005569		Approved		uc003akh.3	P53671	OTTHUMG00000151251	ENST00000331728.4:c.1110G>A	22.37:g.31663038G>A						LIMK2_ENST00000340552.4_Silent_p.Q349Q|LIMK2_ENST00000444929.2_Silent_p.Q124Q|LIMK2_ENST00000333611.4_Silent_p.Q349Q|LIMK2_ENST00000406516.1_Silent_p.Q292Q	p.Q370Q	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN			9	1224	+			370			Protein kinase.		A8K6H5|Q7KZ80|Q7L3H5|Q96E10|Q99464|Q9UFU0	Silent	SNP	ENST00000331728.4	37	c.1110G>A	CCDS13891.1																																																																																				0.473	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321911.1	NM_016733		3	12	0	0	0	1	0	3	12				
TEP1	7011	broad.mit.edu	37	14	20854643	20854643	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr14:20854643G>A	ENST00000262715.5	-	19	2864	c.2824C>T	c.(2824-2826)Cgc>Tgc	p.R942C	TEP1_ENST00000556935.1_Missense_Mutation_p.R834C	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	942					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		ACGCCCCAGCGGAGGTCGATT	0.657																																						ENST00000262715.5																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(2824-2826)Cgc>Tgc		telomerase-associated protein 1							44.0	39.0	41.0					14																	20854643		2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20854643G>A		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.2824C>T	14.37:g.20854643G>A	ENSP00000262715:p.Arg942Cys					TEP1_ENST00000556935.1_Missense_Mutation_p.R834C	p.R942C	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	19	2864	-	all_cancers(95;0.00123)	all_lung(585;0.235)	942					A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.2824C>T	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.733381	0.69189	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.19105	2.17;2.17	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.57740	0.2074	H	0.95611	3.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.917;1.0	T	0.69844	-0.5035	10	0.87932	D	0	-11.1453	12.6147	0.56569	0.0:0.0:0.8341:0.1659	.	834;292;942	G3V5X7;G3V2A4;Q99973	.;.;TEP1_HUMAN	C	942;942;834	ENSP00000262715:R942C;ENSP00000452574:R834C	ENSP00000262715:R942C	R	-	1	0	TEP1	19924483	1.000000	0.71417	1.000000	0.80357	0.519000	0.34347	5.653000	0.67967	2.423000	0.82170	0.655000	0.94253	CGC		0.657	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		7	43	0	0	0	1	0	7	43				
GUCA1A	2978	broad.mit.edu	37	6	42146546	42146546	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr6:42146546C>T	ENST00000394237.1	+	5	1334	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C	GUCA1A_ENST00000541991.1_Missense_Mutation_p.R120C|GUCA1A_ENST00000372958.1_Missense_Mutation_p.R120C|GUCA1A_ENST00000053469.4_Missense_Mutation_p.R120C			P43080	GUC1A_HUMAN	guanylate cyclase activator 1A (retina)	120	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				phototransduction, visible light (GO:0007603)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCAGGCCATTCGCGCCATTAA	0.582																																						ENST00000394237.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7						c.(358-360)Cgc>Tgc		guanylate cyclase activator 1A (retina)							166.0	165.0	166.0					6																	42146546		2203	4300	6503	SO:0001583	missense	2978				signal transduction|visual perception	membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity	g.chr6:42146546C>T		CCDS4864.1	6p21.1	2013-06-06			ENSG00000048545	ENSG00000048545		"""EF-hand domain containing"""	4678	protein-coding gene	gene with protein product	"""cone dystrophy 3"""	600364	"""chromosome 6 open reading frame 131"""	GUCA, GUCA1, C6orf131		9425234	Standard	NM_000409		Approved	GCAP, GCAP1, COD3, dJ139D8.6, CORD14	uc003orx.3	P43080	OTTHUMG00000014696	ENST00000394237.1:c.358C>T	6.37:g.42146546C>T	ENSP00000377784:p.Arg120Cys					GUCA1A_ENST00000541991.1_Missense_Mutation_p.R120C|GUCA1A_ENST00000053469.4_Missense_Mutation_p.R120C|GUCA1A_ENST00000372958.1_Missense_Mutation_p.R120C	p.R120C			P43080	GUC1A_HUMAN	STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		5	1334	+	Colorectal(47;0.196)		120			EF-hand 3.		B3KWT4|Q7Z6T1|Q9NU14	Missense_Mutation	SNP	ENST00000394237.1	37	c.358C>T	CCDS4864.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.982017	0.74474	.	.	ENSG00000048545	ENST00000541991;ENST00000372965;ENST00000053469;ENST00000394237;ENST00000372958	T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6	4.63	4.63	0.57726	EF-hand-like domain (1);	2.531660	0.02769	U	0.119499	T	0.76543	0.4002	L	0.55103	1.725	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	T	0.64807	-0.6320	10	0.87932	D	0	.	10.2874	0.43575	0.1972:0.8028:0.0:0.0	.	120	P43080	GUC1A_HUMAN	C	120;124;120;120;120	ENSP00000437476:R120C;ENSP00000053469:R120C;ENSP00000377784:R120C;ENSP00000362049:R120C	ENSP00000053469:R120C	R	+	1	0	GUCA1A	42254524	0.994000	0.37717	0.993000	0.49108	0.962000	0.63368	2.831000	0.48144	2.113000	0.64589	0.561000	0.74099	CGC		0.582	GUCA1A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316582.1			34	359	0	0	0	1	0	34	359				
PCDHGA7	56108	broad.mit.edu	37	5	140762775	140762775	+	Silent	SNP	G	G	A			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr5:140762775G>A	ENST00000518325.1	+	1	309	c.309G>A	c.(307-309)ctG>ctA	p.L103L	PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	103	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGGTGTCTGGTAAACTTTA	0.483																																						ENST00000518325.1																			0				NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49						c.(307-309)ctG>ctA									53.0	62.0	59.0					5																	140762775		2154	4275	6429	SO:0001819	synonymous_variant	0							g.chr5:140762775G>A	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"""Cadherins / Protocadherins : Clustered"""	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.309G>A	5.37:g.140762775G>A						PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron	p.L103L	NM_018920.2	NP_061743.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	309	+								B2RN87|Q9Y5D0	Silent	SNP	ENST00000518325.1	37	c.309G>A	CCDS54927.1																																																																																				0.483	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920		9	86	0	0	0	1	0	9	86				
SENP2	59343	broad.mit.edu	37	3	185316806	185316806	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr3:185316806A>G	ENST00000296257.5	+	4	592	c.352A>G	c.(352-354)Aaa>Gaa	p.K118E	SENP2_ENST00000465201.1_3'UTR|SENP2_ENST00000427465.2_Intron|SENP2_ENST00000545472.1_Missense_Mutation_p.K108E	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	118					cellular protein metabolic process (GO:0044267)|dorsal/ventral axis specification (GO:0009950)|heart development (GO:0007507)|labyrinthine layer development (GO:0060711)|mRNA transport (GO:0051028)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein binding (GO:0032091)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|protein transport (GO:0015031)|regulation of DNA endoreduplication (GO:0032875)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of Wnt signaling pathway (GO:0030111)|spongiotrophoblast layer development (GO:0060712)|trophoblast giant cell differentiation (GO:0060707)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	SUMO-specific protease activity (GO:0016929)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CAACATGCTGAAACTGGGTGA	0.368																																						ENST00000296257.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12						c.(352-354)Aaa>Gaa		SUMO1/sentrin/SMT3 specific peptidase 2							134.0	129.0	131.0					3																	185316806		2203	4300	6503	SO:0001583	missense	59343				mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity	g.chr3:185316806A>G	AF151697	CCDS33902.1	3q28	2005-08-17	2005-08-17		ENSG00000163904	ENSG00000163904			23116	protein-coding gene	gene with protein product		608261	"""SUMO1/sentrin/SMT3 specific protease 2"""			11896061, 11489887	Standard	XM_005247690		Approved	SMT3IP2, KIAA1331, DKFZp762A2316, AXAM2	uc003fpn.3	Q9HC62	OTTHUMG00000156658	ENST00000296257.5:c.352A>G	3.37:g.185316806A>G	ENSP00000296257:p.Lys118Glu					SENP2_ENST00000545472.1_Missense_Mutation_p.K108E|SENP2_ENST00000427465.2_Intron|SENP2_ENST00000465201.1_3'UTR	p.K118E	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)		4	592	+	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		118					B4DQ42|Q8IW97|Q96SR2|Q9P2L5	Missense_Mutation	SNP	ENST00000296257.5	37	c.352A>G	CCDS33902.1	.	.	.	.	.	.	.	.	.	.	A	12.51	1.958909	0.34565	.	.	ENSG00000163904	ENST00000430355;ENST00000545472;ENST00000296257	T;T	0.22539	1.95;1.96	5.11	5.11	0.69529	.	0.320946	0.27549	N	0.018880	T	0.12646	0.0307	N	0.14661	0.345	0.80722	D	1	B;B	0.20780	0.048;0.048	B;B	0.22152	0.031;0.038	T	0.14531	-1.0469	10	0.23891	T	0.37	-8.9862	11.4649	0.50232	1.0:0.0:0.0:0.0	.	108;118	B4DQ42;Q9HC62	.;SENP2_HUMAN	E	172;108;118	ENSP00000439653:K108E;ENSP00000296257:K118E	ENSP00000296257:K118E	K	+	1	0	SENP2	186799500	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	2.566000	0.45948	2.270000	0.75569	0.482000	0.46254	AAA		0.368	SENP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345159.1	NM_021627		14	35	0	0	0	1	0	14	35				
NCAPD2	9918	broad.mit.edu	37	12	6635636	6635636	+	Silent	SNP	C	C	G			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr12:6635636C>G	ENST00000315579.5	+	21	3388	c.2589C>G	c.(2587-2589)ctC>ctG	p.L863L	NCAPD2_ENST00000542492.1_3'UTR|NCAPD2_ENST00000545962.1_Silent_p.L818L	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	863					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CAGACCCACTCTGGATCCCAT	0.552																																						ENST00000315579.5																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						c.(2587-2589)ctC>ctG		non-SMC condensin I complex, subunit D2							58.0	60.0	59.0					12																	6635636		2203	4300	6503	SO:0001819	synonymous_variant	9918				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding	g.chr12:6635636C>G	D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"""chromosome condensation related SMC associated protein 1"""	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.2589C>G	12.37:g.6635636C>G						NCAPD2_ENST00000545962.1_Silent_p.L818L|NCAPD2_ENST00000542492.1_3'UTR	p.L863L	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN			21	3388	+			863					D3DUR4|Q8N6U3	Silent	SNP	ENST00000315579.5	37	c.2589C>G	CCDS8548.1																																																																																				0.552	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	NM_014865		9	121	0	0	0	1	0	9	121				
OR6V1	346517	broad.mit.edu	37	7	142749777	142749777	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr7:142749777A>G	ENST00000418316.1	+	1	361	c.340A>G	c.(340-342)Aca>Gca	p.T114A		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	114						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					CCTCATCCTGACAGACATGGC	0.577																																						ENST00000418316.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(340-342)Aca>Gca		olfactory receptor, family 6, subfamily V, member 1							120.0	125.0	123.0					7																	142749777		2162	4284	6446	SO:0001583	missense	346517				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:142749777A>G		CCDS47728.1	7q34	2014-05-06			ENSG00000225781	ENSG00000225781		"""GPCR / Class A : Olfactory receptors"""	15090	protein-coding gene	gene with protein product						12732197	Standard	NM_001001667		Approved	GPR138	uc011ksv.2	Q8N148	OTTHUMG00000158385	ENST00000418316.1:c.340A>G	7.37:g.142749777A>G	ENSP00000396085:p.Thr114Ala						p.T114A	NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN			1	361	+	Melanoma(164;0.059)		114					A4D2I0|B9EH48|Q6IF70	Missense_Mutation	SNP	ENST00000418316.1	37	c.340A>G	CCDS47728.1	.	.	.	.	.	.	.	.	.	.	A	0.764	-0.768180	0.02974	.	.	ENSG00000225781	ENST00000418316	T	0.00958	5.5	4.41	-6.79	0.01715	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00356	0.0011	N	0.02213	-0.635	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.43343	-0.9397	9	0.02654	T	1	.	5.2026	0.15273	0.2435:0.0:0.2715:0.485	.	114	Q8N148	OR6V1_HUMAN	A	114	ENSP00000396085:T114A	ENSP00000396085:T114A	T	+	1	0	OR6V1	142459899	0.001000	0.12720	0.001000	0.08648	0.984000	0.73092	0.261000	0.18442	-1.695000	0.01423	-0.177000	0.13119	ACA		0.577	OR6V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350860.1			5	165	0	0	0	1	0	5	165				
ROS1	6098	broad.mit.edu	37	6	117706989	117706989	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr6:117706989C>G	ENST00000368508.3	-	15	2359	c.2161G>C	c.(2161-2163)Gac>Cac	p.D721H	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.D716H	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	721					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CCTTTCGTGTCACTGTAGTAG	0.403			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	ENST00000368508.3				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""		"""glioblastoma, NSCLC"""	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162						c.(2161-2163)Gac>Cac		c-ros oncogene 1 , receptor tyrosine kinase							132.0	118.0	123.0					6																	117706989		2203	4300	6503	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117706989C>G	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.2161G>C	6.37:g.117706989C>G	ENSP00000357494:p.Asp721His					GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.D716H	p.D721H	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	15	2359	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	721					Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.2161G>C	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.300630	0.40694	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;D	0.93859	-3.3;-3.3	5.37	3.57	0.40892	.	0.167260	0.42548	D	0.000684	D	0.87341	0.6153	N	0.19112	0.55	0.80722	D	1	D	0.65815	0.995	P	0.57371	0.819	D	0.87366	0.2347	10	0.45353	T	0.12	.	6.8699	0.24115	0.0:0.677:0.0:0.323	.	721	P08922	ROS1_HUMAN	H	721;716	ENSP00000357494:D721H;ENSP00000357493:D716H	ENSP00000357493:D716H	D	-	1	0	ROS1	117813682	1.000000	0.71417	0.809000	0.32408	0.419000	0.31324	2.841000	0.48223	1.518000	0.48934	-0.136000	0.14681	GAC		0.403	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			4	54	0	0	0	1	0	4	54				
KRT37	8688	broad.mit.edu	37	17	39579137	39579137	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr17:39579137C>T	ENST00000225550.3	-	3	624	c.625G>A	c.(625-627)Ggg>Agg	p.G209R	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	209	Coil 1B.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				TTCTGCGTCCCGCACTTGTCC	0.627																																						ENST00000225550.3																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25						c.(625-627)Ggg>Agg		keratin 37							79.0	70.0	73.0					17																	39579137		2203	4300	6503	SO:0001583	missense	8688					intermediate filament	structural molecule activity	g.chr17:39579137C>T	Y16793	CCDS32653.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000108417	ENSG00000108417		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6455	protein-coding gene	gene with protein product		604541	"""keratin, hair, acidic, 7"""	KRTHA7		9756910, 16831889	Standard	NM_003770		Approved		uc002hwp.1	O76014	OTTHUMG00000133606	ENST00000225550.3:c.625G>A	17.37:g.39579137C>T	ENSP00000225550:p.Gly209Arg					AC003958.2_ENST00000432258.1_RNA	p.G209R	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN			3	624	-		Breast(137;0.000496)	209			Coil 1B.|Rod.			Missense_Mutation	SNP	ENST00000225550.3	37	c.625G>A	CCDS32653.1	.	.	.	.	.	.	.	.	.	.	.	14.55	2.567558	0.45694	.	.	ENSG00000108417	ENST00000225550	D	0.89123	-2.47	4.78	2.73	0.32206	Filament (1);	0.000000	0.47455	D	0.000228	D	0.94361	0.8187	M	0.91354	3.2	0.40529	D	0.98091	D	0.89917	1.0	D	0.74023	0.982	D	0.93328	0.6698	10	0.87932	D	0	.	8.4609	0.32927	0.1536:0.764:0.0:0.0825	.	209	O76014	KRT37_HUMAN	R	209	ENSP00000225550:G209R	ENSP00000225550:G209R	G	-	1	0	KRT37	36832663	0.324000	0.24652	0.081000	0.20488	0.042000	0.13812	0.979000	0.29500	0.423000	0.26033	0.655000	0.94253	GGG		0.627	KRT37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257714.2	NM_003770		29	128	0	0	0	1	0	29	128				
ESRP1	54845	broad.mit.edu	37	8	95680362	95680362	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr8:95680362G>A	ENST00000433389.2	+	10	1307	c.1117G>A	c.(1117-1119)Gct>Act	p.A373T	ESRP1_ENST00000358397.5_Missense_Mutation_p.A373T|ESRP1_ENST00000423620.2_Missense_Mutation_p.A373T|ESRP1_ENST00000454170.2_Missense_Mutation_p.A373T	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	373	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						AACAGGGGACGCTTTTGTCCT	0.483																																						ENST00000433389.2																		ESRP1/RAF1(4)	0				NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						c.(1117-1119)Gct>Act		epithelial splicing regulatory protein 1							107.0	108.0	107.0					8																	95680362		1955	4151	6106	SO:0001583	missense	54845				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding	g.chr8:95680362G>A	AK000178	CCDS47895.1, CCDS47896.1, CCDS47897.1, CCDS47898.1	8q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000104413	ENSG00000104413		"""RNA binding motif (RRM) containing"""	25966	protein-coding gene	gene with protein product		612959	"""RNA binding motif protein 35A"""	RBM35A		12477932	Standard	NM_017697		Approved	FLJ20171	uc003ygq.4	Q6NXG1	OTTHUMG00000164587	ENST00000433389.2:c.1117G>A	8.37:g.95680362G>A	ENSP00000405738:p.Ala373Thr					ESRP1_ENST00000358397.5_Missense_Mutation_p.A373T|ESRP1_ENST00000454170.2_Missense_Mutation_p.A373T|ESRP1_ENST00000423620.2_Missense_Mutation_p.A373T	p.A373T	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN			10	1307	+			373			RRM 2.		A6NHA8|A8MPX1|E9PB47|Q2M2B0|Q499G3|Q6PJ86|Q9NXL8	Missense_Mutation	SNP	ENST00000433389.2	37	c.1117G>A	CCDS47897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.530113|5.530113	0.96446|0.96446	.|.	.|.	ENSG00000104413|ENSG00000104413	ENST00000423620;ENST00000433389;ENST00000358397;ENST00000454170;ENST00000517610|ENST00000519505	T;T;T;T;T|.	0.29397|.	1.57;1.57;1.57;2.49;1.57|.	5.58|5.58	5.58|5.58	0.84498|0.84498	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.88753|0.88753	0.6522|0.6522	H|H	0.96777|0.96777	3.88|3.88	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D|.	0.97110|.	1.0;1.0;1.0;1.0;1.0;1.0|.	D|D	0.92142|0.92142	0.5721|0.5721	10|5	0.87932|.	D|.	0|.	-10.4049|-10.4049	19.5733|19.5733	0.95430|0.95430	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	373;373;373;373;373;373|.	D7PBN3;Q6NXG1-4;Q6NXG1-2;E9PB47;Q6NXG1-3;Q6NXG1|.	.;.;.;.;.;ESRP1_HUMAN|.	T|H	373;373;373;373;232|238	ENSP00000407349:A373T;ENSP00000405738:A373T;ENSP00000351168:A373T;ENSP00000402766:A373T;ENSP00000429125:A232T|.	ENSP00000351168:A373T|.	A|R	+|+	1|2	0|0	ESRP1|ESRP1	95749538|95749538	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.901000|0.901000	0.52897|0.52897	9.869000|9.869000	0.99810|0.99810	2.618000|2.618000	0.88619|0.88619	0.563000|0.563000	0.77884|0.77884	GCT|CGC		0.483	ESRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379326.1	NM_017697		7	90	0	0	0	1	0	7	90				
PLCD4	84812	broad.mit.edu	37	2	219500985	219500985	+	Silent	SNP	G	G	C			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr2:219500985G>C	ENST00000450993.2	+	15	2391	c.2052G>C	c.(2050-2052)ggG>ggC	p.G684G	PLCD4_ENST00000432688.1_Silent_p.G716G|PLCD4_ENST00000417849.1_Silent_p.G684G|RP11-548H3.1_ENST00000607946.1_RNA	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	684	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				acrosome reaction (GO:0007340)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CATACTGGGGGCAGACACTAT	0.418																																						ENST00000450993.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23						c.(2050-2052)ggG>ggC		phospholipase C, delta 4							191.0	184.0	187.0					2																	219500985		1946	4137	6083	SO:0001819	synonymous_variant	84812				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:219500985G>C	AI366170	CCDS46516.1	2q35	2013-01-10			ENSG00000115556	ENSG00000115556	3.1.4.11	"""EF-hand domain containing"""	9062	protein-coding gene	gene with protein product		605939				10702683, 9056492	Standard	NM_032726		Approved		uc021vwx.1	Q9BRC7	OTTHUMG00000154743	ENST00000450993.2:c.2052G>C	2.37:g.219500985G>C						PLCD4_ENST00000432688.1_Silent_p.G716G|PLCD4_ENST00000417849.1_Silent_p.G684G	p.G684G	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	15	2391	+		Renal(207;0.0915)	684			C2.		Q53FS8	Silent	SNP	ENST00000450993.2	37	c.2052G>C	CCDS46516.1	.	.	.	.	.	.	.	.	.	.	G	7.969	0.748568	0.15710	.	.	ENSG00000115556	ENST00000457773	.	.	.	5.17	1.32	0.21799	.	.	.	.	.	T	0.41650	0.1168	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26677	-1.0096	4	.	.	.	.	0.6216	0.00779	0.2995:0.2073:0.3177:0.1755	.	.	.	.	P	33	.	.	A	+	1	0	PLCD4	219209229	0.834000	0.29399	0.990000	0.47175	0.961000	0.63080	-0.051000	0.11885	0.353000	0.24079	-0.136000	0.14681	GCA		0.418	PLCD4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336876.1			74	161	0	0	0	1	0	74	161				
FBXW4	6468	broad.mit.edu	37	10	103433381	103433381	+	Frame_Shift_Del	DEL	C	C	-			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr10:103433381delC	ENST00000331272.7	-	3	1024	c.406delG	c.(406-408)gctfs	p.A136fs		NM_022039.3	NP_071322.1	P57775	FBXW4_HUMAN	F-box and WD repeat domain containing 4	136					cartilage development (GO:0051216)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|positive regulation of mesenchymal cell proliferation (GO:0002053)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	ubiquitin ligase complex (GO:0000151)				breast(3)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	15		Colorectal(252;0.123)		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)		ATGAAATTAGCCTGGGATATG	0.458																																						ENST00000331272.7																			0				breast(3)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	15						c.(406-408)ctfs		F-box and WD repeat domain containing 4							86.0	88.0	87.0					10																	103433381		2203	4300	6503	SO:0001589	frameshift_variant	6468				ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	ubiquitin ligase complex		g.chr10:103433381delC	AF281859	CCDS31271.1	10q24	2013-01-09	2007-02-08	2005-03-12	ENSG00000107829	ENSG00000107829		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	10847	protein-coding gene	gene with protein product		608071	"""split hand/foot malformation (ectrodactyly) type 3"", ""F-box and WD-40 domain protein 4"""	SHFM3		8723077, 7912888	Standard	XM_005270053		Approved	Fbw4, dactylin	uc001kto.3	P57775	OTTHUMG00000018938	ENST00000331272.7:c.406delG	10.37:g.103433381delC	ENSP00000359149:p.Ala136fs						p.A136fs	NM_022039.3	NP_071322.1	P57775	FBXW4_HUMAN		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)	3	1024	-		Colorectal(252;0.123)	136					Q5SVS1|Q96IM6	Frame_Shift_Del	DEL	ENST00000331272.7	37	c.406delG	CCDS31271.1																																																																																				0.458	FBXW4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049979.2	NM_022039		10	80						10	80	---	---	---	---
WNK1	65125	broad.mit.edu	37	12	993858	993859	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr12:993858_993859delCT	ENST00000315939.6	+	19	4531_4532	c.3888_3889delCT	c.(3886-3891)cactctfs	p.S1297fs	WNK1_ENST00000530271.2_Frame_Shift_Del_p.S1795fs|WNK1_ENST00000340908.4_Frame_Shift_Del_p.S890fs|WNK1_ENST00000535572.1_Frame_Shift_Del_p.S1050fs|WNK1_ENST00000537687.1_Frame_Shift_Del_p.S1557fs	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1297					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			ACTTGTCTCACTCTGCATCATC	0.431																																					Colon(19;451 567 6672 12618 28860)	ENST00000537687.1																			0				breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104						c.(4666-4671)cactfs		WNK lysine deficient protein kinase 1																																				SO:0001589	frameshift_variant	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:993858_993859delCT	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.3888_3889delCT	12.37:g.993860_993861delCT	ENSP00000313059:p.Ser1297fs					WNK1_ENST00000535572.1_Frame_Shift_Del_p.HS1049fs|WNK1_ENST00000530271.2_Frame_Shift_Del_p.HS1794fs|WNK1_ENST00000315939.6_Frame_Shift_Del_p.HS1296fs|WNK1_ENST00000340908.4_Frame_Shift_Del_p.HS889fs	p.HS1556fs	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		19	5311_5312	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		1296					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Frame_Shift_Del	DEL	ENST00000315939.6	37	c.4668_4669delCT	CCDS8506.1																																																																																				0.431	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		11	151						11	151	---	---	---	---
CDH13	1012	broad.mit.edu	37	16	83251008	83251009	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr16:83251008_83251009delAT	ENST00000566620.1	+	5	832_833	c.542_543delAT	c.(541-543)gatfs	p.D181fs	CDH13_ENST00000268613.10_Frame_Shift_Del_p.D228fs|CDH13_ENST00000428848.3_Frame_Shift_Del_p.D142fs|CDH13_ENST00000569454.1_3'UTR	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	181	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		AAGGGAGTGGATCAAGAGCCTA	0.455																																						ENST00000566620.1																			0				large_intestine(1)	1						c.(541-543)gfs		cadherin 13																																				SO:0001589	frameshift_variant	1012				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding	g.chr16:83251008_83251009delAT	U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"""Cadherins / Major cadherins"""	1753	protein-coding gene	gene with protein product	"""T-cadherin"", ""H-cadherin (heart)"""	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.542_543delAT	16.37:g.83251008_83251009delAT	ENSP00000454435:p.Asp181fs					CDH13_ENST00000268613.10_Frame_Shift_Del_p.D228fs|CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000428848.3_Frame_Shift_Del_p.D142fs	p.D181fs	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN		COAD - Colon adenocarcinoma(5;0.0268)	5	832_833	+		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)	181			Cadherin 1.		A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Frame_Shift_Del	DEL	ENST00000566620.1	37	c.542_543delAT	CCDS58486.1																																																																																				0.455	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	NM_001257		8	125						8	125	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578213	7578213	+	Frame_Shift_Del	DEL	A	A	-			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr17:7578213delA	ENST00000269305.4	-	6	825	c.636delT	c.(634-636)tttfs	p.F212fs	TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Frame_Shift_Del_p.F212fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.F212fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.F212fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.F212fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.F212fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	212	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		F -> I (in sporadic cancers; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in a sporadic cancer; somatic mutation).|F -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.F212fs*3(6)|p.?(5)|p.R213fs*35(3)|p.F212L(2)|p.D208fs*1(1)|p.R209_R213delRNTFR(1)|p.F119fs*3(1)|p.T211fs*28(1)|p.D207_R213delDDRNTFR(1)|p.D207_V216del10(1)|p.T211_S215delTFRHS(1)|p.F80fs*3(1)|p.R120fs*35(1)|p.R209fs*6(1)|p.R81fs*>11(1)|p.D208_V216delDRNTFRHSV(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CACTATGTCGAAAAGTGTTTC	0.532		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		36	Deletion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(5)|Insertion - Frameshift(5)|Unknown(5)|Substitution - Missense(2)	p.0?(8)|p.F212fs*3(6)|p.?(5)|p.R213fs*35(3)|p.F212L(2)|p.D208fs*1(1)|p.R209_R213delRNTFR(1)|p.F119fs*3(1)|p.T211fs*28(1)|p.D207_R213delDDRNTFR(1)|p.D207_V216del10(1)|p.T211_S215delTFRHS(1)|p.F80fs*3(1)|p.R120fs*35(1)|p.R209fs*6(1)|p.R81fs*>11(1)|p.D208_V216delDRNTFRHSV(1)	large_intestine(8)|upper_aerodigestive_tract(5)|biliary_tract(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|oesophagus(3)|central_nervous_system(2)|stomach(1)|soft_tissue(1)|liver(1)|lung(1)|breast(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CD011205	TP53	D		c.(634-636)ttfs	Other conserved DNA damage response genes	tumor protein p53							134.0	120.0	125.0					17																	7578213		2203	4300	6503	SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578213delA	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.636delT	17.37:g.7578213delA	ENSP00000269305:p.Phe212fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Frame_Shift_Del_p.F212fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.F212fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.F212fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.F212fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.F212fs	p.F212fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	768	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	212		F -> I (in sporadic cancers; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in a sporadic cancer; somatic mutation).|F -> Y (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.636delT	CCDS11118.1																																																																																				0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		45	32						45	32	---	---	---	---
