#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
ANKRD36	375248	broad.mit.edu	37	2	97856721	97856721	+	Missense_Mutation	SNP	C	C	A			TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr2:97856721C>A	ENST00000461153.2	+	35	2496	c.2252C>A	c.(2251-2253)tCt>tAt	p.S751Y	ANKRD36_ENST00000420699.2_Missense_Mutation_p.S751Y			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	751										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						TCAGTGTCTTCTCAGAAACAA	0.299																																						ENST00000420699.2																			0				endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(2251-2253)tCt>tAt		ankyrin repeat domain 36							179.0	140.0	152.0					2																	97856721		692	1590	2282	SO:0001583	missense	375248							g.chr2:97856721C>A	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.2252C>A	2.37:g.97856721C>A	ENSP00000419530:p.Ser751Tyr					ANKRD36_ENST00000461153.2_Missense_Mutation_p.S751Y	p.S751Y	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN			35	2496	+			751					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	ENST00000461153.2	37	c.2252C>A	CCDS54379.1	.	.	.	.	.	.	.	.	.	.	.	9.609	1.130808	0.21041	.	.	ENSG00000135976	ENST00000461153;ENST00000420699;ENST00000461694	T;T	0.77750	-1.12;-1.12	0.926	-0.0361	0.13890	.	.	.	.	.	T	0.62429	0.2427	L	0.42245	1.32	0.09310	N	0.999998	P	0.50156	0.932	B	0.37780	0.258	T	0.55742	-0.8093	9	0.54805	T	0.06	.	3.3133	0.07024	0.0:0.6894:0.0:0.3106	.	751	A6QL64	AN36A_HUMAN	Y	751;751;113	ENSP00000419530:S751Y;ENSP00000391950:S751Y	ENSP00000391950:S751Y	S	+	2	0	ANKRD36	97220448	0.972000	0.33761	0.094000	0.20943	0.233000	0.25261	0.855000	0.27805	-0.013000	0.14199	0.175000	0.17021	TCT		0.299	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			3	11	1	0	0.0215528	1	0.0222059	3	11				
OR10T2	128360	broad.mit.edu	37	1	158369200	158369200	+	Silent	SNP	G	G	A			TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr1:158369200G>A	ENST00000334438.1	-	1	56	c.57C>T	c.(55-57)tcC>tcT	p.S19S		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	19						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					CCCCCAGGCTGGAGAAACCCA	0.458																																						ENST00000334438.1																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(55-57)tcC>tcT		olfactory receptor, family 10, subfamily T, member 2							34.0	38.0	37.0					1																	158369200		2203	4300	6503	SO:0001819	synonymous_variant	128360				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158369200G>A	AB065643	CCDS30895.1	1q23.1	2012-08-09			ENSG00000186306	ENSG00000186306		"""GPCR / Class A : Olfactory receptors"""	14816	protein-coding gene	gene with protein product							Standard	NM_001004475		Approved		uc010pih.2	Q8NGX3	OTTHUMG00000017521	ENST00000334438.1:c.57C>T	1.37:g.158369200G>A							p.S19S	NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN			1	56	-	all_hematologic(112;0.0378)		19					Q6IF98	Silent	SNP	ENST00000334438.1	37	c.57C>T	CCDS30895.1																																																																																				0.458	OR10T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046371.1	NM_001004475		10	9	0	0	0	1	0	10	9				
FMO3	2328	broad.mit.edu	37	1	171076862	171076862	+	Missense_Mutation	SNP	G	G	C			TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr1:171076862G>C	ENST00000367755.4	+	4	479	c.368G>C	c.(367-369)gGc>gCc	p.G123A	FMO3_ENST00000392085.2_Missense_Mutation_p.G123A|FMO3_ENST00000538429.1_Missense_Mutation_p.G60A|FMO3_ENST00000542847.1_Missense_Mutation_p.G103A	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	123					drug metabolic process (GO:0017144)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	amino acid binding (GO:0016597)|flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)|trimethylamine monooxygenase activity (GO:0034899)			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	GCAACTACTGGCCAGTGGGAT	0.398																																						ENST00000367755.4																			0				endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31						c.(367-369)gGc>gCc		flavin containing monooxygenase 3							121.0	119.0	120.0					1																	171076862		2203	4300	6503	SO:0001583	missense	2328				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	g.chr1:171076862G>C	BC032016	CCDS1292.1	1q24.3	2013-10-01			ENSG00000007933	ENSG00000007933	2.6.1.16		3771	protein-coding gene	gene with protein product		136132				8486388, 9417913	Standard	NM_001002294		Approved		uc001ghh.3	P31513	OTTHUMG00000035505	ENST00000367755.4:c.368G>C	1.37:g.171076862G>C	ENSP00000356729:p.Gly123Ala					FMO3_ENST00000538429.1_Missense_Mutation_p.G60A|FMO3_ENST00000542847.1_Missense_Mutation_p.G103A|FMO3_ENST00000392085.2_Missense_Mutation_p.G123A	p.G123A	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN			4	479	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		123					B2R816|Q14854|Q8N5N5	Missense_Mutation	SNP	ENST00000367755.4	37	c.368G>C	CCDS1292.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.466451	0.63625	.	.	ENSG00000007933	ENST00000367755;ENST00000392085;ENST00000542847;ENST00000538429	T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	D	0.83004	0.5160	M	0.90309	3.105	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.97110	1.0;0.994;0.993	D	0.87259	0.2278	10	0.87932	D	0	-9.8039	17.546	0.87861	0.0:0.0:1.0:0.0	.	60;103;123	F5H261;F5GZZ8;P31513	.;.;FMO3_HUMAN	A	123;123;103;60	ENSP00000356729:G123A;ENSP00000375935:G123A;ENSP00000444073:G103A;ENSP00000439500:G60A	ENSP00000356729:G123A	G	+	2	0	FMO3	169343486	1.000000	0.71417	0.920000	0.36463	0.037000	0.13140	9.864000	0.99589	2.201000	0.70794	0.591000	0.81541	GGC		0.398	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086219.1	NM_006894		14	42	0	0	0	1	0	14	42				
EGLN1	54583	broad.mit.edu	37	1	231556829	231556829	+	Missense_Mutation	SNP	A	A	G	rs541542280		TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr1:231556829A>G	ENST00000366641.3	-	1	3961	c.806T>C	c.(805-807)aTt>aCt	p.I269T	EGLN1_ENST00000476717.1_5'Flank	NM_022051.2	NP_071334.1			egl-9 family hypoxia-inducible factor 1											breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	16		Prostate(94;0.194)|Acute lymphoblastic leukemia(190;0.244)				GAGCAGCCCAATGGTTTCGCA	0.577													A|||	1	0.000199681	0.0	0.0014	5008	,	,		18297	0.0		0.0	False		,,,				2504	0.0					ENST00000366641.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	16						c.(805-807)aTt>aCt		egl-9 family hypoxia-inducible factor 1	Vitamin C(DB00126)						106.0	99.0	101.0					1																	231556829		2203	4300	6503	SO:0001583	missense	54583				negative regulation of sequence-specific DNA binding transcription factor activity|oxygen homeostasis|response to hypoxia	cytosol	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-proline dioxygenase activity|protein binding|zinc ion binding	g.chr1:231556829A>G	AJ310543	CCDS1595.1	1q42.1	2013-08-21	2013-08-21	2001-08-24	ENSG00000135766	ENSG00000135766		"""Zinc fingers, MYND-type"""	1232	protein-coding gene	gene with protein product	"""HIF prolyl hydroxylase 2"""	606425	"""EGL nine (C.elegans) homolog 1"", ""egl nine homolog 1 (C. elegans)"""	C1orf12		11056053	Standard	NM_022051		Approved	SM-20, PHD2, ZMYND6, HIFPH2	uc001huv.2	Q9GZT9	OTTHUMG00000038027	ENST00000366641.3:c.806T>C	1.37:g.231556829A>G	ENSP00000355601:p.Ile269Thr						p.I269T	NM_022051.2	NP_071334.1	Q9GZT9	EGLN1_HUMAN			1	3961	-		Prostate(94;0.194)|Acute lymphoblastic leukemia(190;0.244)	269						Missense_Mutation	SNP	ENST00000366641.3	37	c.806T>C	CCDS1595.1	.	.	.	.	.	.	.	.	.	.	A	28.6	4.937891	0.92526	.	.	ENSG00000135766	ENST00000366641	D	0.87966	-2.32	4.94	4.94	0.65067	Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	D	0.93913	0.8052	M	0.87971	2.92	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	D	0.94897	0.8053	10	0.72032	D	0.01	-12.4207	14.8883	0.70587	1.0:0.0:0.0:0.0	.	269	Q9GZT9	EGLN1_HUMAN	T	269	ENSP00000355601:I269T	ENSP00000355601:I269T	I	-	2	0	EGLN1	229623452	1.000000	0.71417	0.987000	0.45799	0.970000	0.65996	9.119000	0.94362	1.954000	0.56735	0.460000	0.39030	ATT		0.577	EGLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092879.1	NM_022051		9	45	0	0	0	1	0	9	45				
MBD5	55777	broad.mit.edu	37	2	149227977	149227977	+	Missense_Mutation	SNP	C	C	G			TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr2:149227977C>G	ENST00000407073.1	+	9	3462	c.2465C>G	c.(2464-2466)cCa>cGa	p.P822R	MBD5_ENST00000404807.1_Missense_Mutation_p.P822R	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	822					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TCCTCCACTCCAGTGATACCA	0.423																																						ENST00000407073.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62						c.(2464-2466)cCa>cGa		methyl-CpG binding domain protein 5							73.0	71.0	72.0					2																	149227977		2203	4300	6503	SO:0001583	missense	55777					chromosome|nucleus	chromatin binding|DNA binding	g.chr2:149227977C>G	AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.2465C>G	2.37:g.149227977C>G	ENSP00000386049:p.Pro822Arg					MBD5_ENST00000404807.1_Missense_Mutation_p.P822R	p.P822R	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0569)	9	3462	+			822					A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	ENST00000407073.1	37	c.2465C>G	CCDS33302.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.091|9.091	1.001802|1.001802	0.19121|0.19121	.|.	.|.	ENSG00000204406|ENSG00000204406	ENST00000407073;ENST00000404807|ENST00000416015	T;T|.	0.45668|.	0.9;0.89|.	4.75|4.75	4.75|4.75	0.60458|0.60458	.|.	0.000000|.	0.64402|.	D|.	0.000017|.	T|T	0.51584|0.51584	0.1683|0.1683	N|N	0.19112|0.19112	0.55|0.55	0.39494|0.39494	D|D	0.968099|0.968099	D;D|.	0.69078|.	0.991;0.997|.	P;D|.	0.63793|.	0.686;0.918|.	T|T	0.49123|0.49123	-0.8972|-0.8972	10|5	0.66056|.	D|.	0.02|.	-5.0769|-5.0769	16.4755|16.4755	0.84131|0.84131	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	822;822|.	Q9P267-2;Q9P267|.	.;MBD5_HUMAN|.	R|E	822|562	ENSP00000386049:P822R;ENSP00000384672:P822R|.	ENSP00000384672:P822R|.	P|Q	+|+	2|1	0|0	MBD5|MBD5	148944447|148944447	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.642000|5.642000	0.67888|0.67888	2.636000|2.636000	0.89361|0.89361	0.655000|0.655000	0.94253|0.94253	CCA|CAG		0.423	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			16	31	0	0	0	1	0	16	31				
BAGE2	85319	broad.mit.edu	37	21	11058353	11058353	+	RNA	SNP	T	T	C	rs79433933		TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr21:11058353T>C	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GAAATCTCTTTATAAAACCTT	0.343																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							20.0	18.0	19.0					21																	11058353		692	1589	2281			85319							g.chr21:11058353T>C	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058353T>C												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.343	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		5	84	0	0	0	1	0	5	84				
PGR	5241	broad.mit.edu	37	11	100912716	100912716	+	Missense_Mutation	SNP	C	C	T			TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr11:100912716C>T	ENST00000325455.5	-	7	4059	c.2606G>A	c.(2605-2607)cGt>cAt	p.R869H	PGR_ENST00000263463.5_Missense_Mutation_p.R767H|PGR_ENST00000534013.1_Missense_Mutation_p.R275H	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	869	Steroid-binding.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	TTGATAGAAACGCTGTGAGCT	0.368																																					Pancreas(124;2271 2354 21954 22882)	ENST00000325455.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36						c.(2605-2607)cGt>cAt		progesterone receptor	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)						93.0	87.0	89.0					11																	100912716		2203	4300	6503	SO:0001583	missense	5241				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr11:100912716C>T	M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"""Nuclear hormone receptors"""	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.2606G>A	11.37:g.100912716C>T	ENSP00000325120:p.Arg869His					PGR_ENST00000534013.1_Missense_Mutation_p.R275H|PGR_ENST00000263463.5_Missense_Mutation_p.R767H	p.R869H	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	7	4059	-		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	869			Steroid-binding.		A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	ENST00000325455.5	37	c.2606G>A	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	C	31	5.084326	0.94100	.	.	ENSG00000082175	ENST00000325455;ENST00000534013;ENST00000263463	D;D;D	0.98937	-5.25;-5.25;-5.25	5.34	5.34	0.76211	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.118979	0.56097	D	0.000025	D	0.99275	0.9747	M	0.88450	2.955	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.99267	1.0892	10	0.59425	D	0.04	.	19.051	0.93046	0.0:1.0:0.0:0.0	.	767;869;250	Q8TDS3;P06401;A7LQ08	.;PRGR_HUMAN;.	H	869;275;767	ENSP00000325120:R869H;ENSP00000436561:R275H;ENSP00000263463:R767H	ENSP00000263463:R767H	R	-	2	0	PGR	100417926	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.584000	0.67490	2.501000	0.84356	0.585000	0.79938	CGT		0.368	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1			9	15	0	0	0	1	0	9	15				
SPEN	23013	broad.mit.edu	37	1	16261761	16261761	+	Missense_Mutation	SNP	C	C	G			TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr1:16261761C>G	ENST00000375759.3	+	11	9230	c.9026C>G	c.(9025-9027)gCa>gGa	p.A3009G		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3009					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AGCATCCCAGCAGATCGAACT	0.617																																						ENST00000375759.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(9025-9027)gCa>gGa		spen family transcriptional repressor							107.0	100.0	103.0					1																	16261761		2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16261761C>G		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.9026C>G	1.37:g.16261761C>G	ENSP00000364912:p.Ala3009Gly						p.A3009G	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	9230	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	3009					Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.9026C>G	CCDS164.1	.	.	.	.	.	.	.	.	.	.	C	3.675	-0.066812	0.07273	.	.	ENSG00000065526	ENST00000375759	T	0.08546	3.08	5.58	5.58	0.84498	.	.	.	.	.	T	0.08802	0.0218	N	0.25647	0.755	0.36475	D	0.867503	B	0.23377	0.084	B	0.19148	0.024	T	0.19877	-1.0292	9	0.49607	T	0.09	-2.6938	18.5617	0.91102	0.0:1.0:0.0:0.0	.	3009	Q96T58	MINT_HUMAN	G	3009	ENSP00000364912:A3009G	ENSP00000364912:A3009G	A	+	2	0	SPEN	16134348	0.002000	0.14202	0.904000	0.35570	0.108000	0.19459	1.278000	0.33179	2.619000	0.88677	0.561000	0.74099	GCA		0.617	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		9	31	0	0	0	1	0	9	31				
TENM1	10178	broad.mit.edu	37	X	123518383	123518383	+	Missense_Mutation	SNP	T	T	C			TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chrX:123518383T>C	ENST00000371130.3	-	29	6440	c.6377A>G	c.(6376-6378)cAa>cGa	p.Q2126R	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Missense_Mutation_p.Q2133R	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2126					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										ATTATCATATTGAATGGTCAT	0.398																																						ENST00000422452.2																			0											c.(6397-6399)cAa>cGa		teneurin transmembrane protein 1							199.0	166.0	177.0					X																	123518383		2203	4300	6503	SO:0001583	missense	10178							g.chrX:123518383T>C	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.6377A>G	X.37:g.123518383T>C	ENSP00000360171:p.Gln2126Arg					STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.Q2126R	p.Q2133R	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					30	6461	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.6398A>G	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	T	17.27	3.348330	0.61183	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.86230	-2.09;-2.06	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.91935	0.7446	M	0.65975	2.015	0.80722	D	1	D;P;P	0.60160	0.987;0.473;0.852	D;B;B	0.67725	0.953;0.1;0.286	D	0.92096	0.5684	10	0.51188	T	0.08	.	14.5617	0.68144	0.0:0.0:0.0:1.0	.	2132;2133;2126	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	R	2126;2133	ENSP00000360171:Q2126R;ENSP00000403954:Q2133R	ENSP00000360171:Q2126R	Q	-	2	0	ODZ1	123346064	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	1.819000	0.53055	0.441000	0.28932	CAA		0.398	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		4	117	0	0	0	1	0	4	117				
FLII	2314	broad.mit.edu	37	17	18150576	18150576	+	Silent	SNP	C	C	G			TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr17:18150576C>G	ENST00000327031.4	-	21	2808	c.2583G>C	c.(2581-2583)ggG>ggC	p.G861G	FLII_ENST00000579294.1_Silent_p.G850G|FLII_ENST00000578558.1_Intron|FLII_ENST00000379450.4_Silent_p.G775G|FLII_ENST00000545457.2_Silent_p.G806G	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	861					multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					GTTTCACCTTCCCGGAGAGAC	0.622																																						ENST00000327031.4																			0				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(2581-2583)ggG>ggC		flightless I homolog (Drosophila)							70.0	71.0	71.0					17																	18150576		2203	4300	6503	SO:0001819	synonymous_variant	2314				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding	g.chr17:18150576C>G	U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731			3750	protein-coding gene	gene with protein product		600362	"""flightless I (Drosophila) homolog"""			7825574	Standard	NM_002018		Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.2583G>C	17.37:g.18150576C>G						FLII_ENST00000545457.2_Silent_p.G806G|FLII_ENST00000579294.1_Silent_p.G850G|FLII_ENST00000578558.1_Intron|FLII_ENST00000379450.4_Silent_p.G775G	p.G861G	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN			21	2808	-	all_neural(463;0.228)		861					B4DIL0|F5H407|J3QLG3	Silent	SNP	ENST00000327031.4	37	c.2583G>C	CCDS11192.1																																																																																				0.622	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132032.2	NM_002018		12	30	0	0	0	1	0	12	30				
KCTD3	51133	broad.mit.edu	37	1	215792612	215792612	+	Missense_Mutation	SNP	A	A	G			TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr1:215792612A>G	ENST00000259154.4	+	17	2159	c.1865A>G	c.(1864-1866)cAc>cGc	p.H622R	KCTD3_ENST00000495537.1_3'UTR	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	622					protein homooligomerization (GO:0051260)					breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		CAGCATAGCCACTTACGAGAA	0.363																																						ENST00000259154.4																			0				breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33						c.(1864-1866)cAc>cGc		potassium channel tetramerization domain containing 3							123.0	129.0	127.0					1																	215792612		2203	4300	6503	SO:0001583	missense	51133					voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr1:215792612A>G	AK024547	CCDS1515.1	1q41	2013-06-20	2013-06-20		ENSG00000136636	ENSG00000136636			21305	protein-coding gene	gene with protein product		613272	"""potassium channel tetramerisation domain containing 3"""			10508479	Standard	NM_016121		Approved	NY-REN-45	uc001hks.3	Q9Y597	OTTHUMG00000037019	ENST00000259154.4:c.1865A>G	1.37:g.215792612A>G	ENSP00000259154:p.His622Arg					KCTD3_ENST00000495537.1_3'UTR	p.H622R	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN		all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)	17	2159	+			622					A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	Missense_Mutation	SNP	ENST00000259154.4	37	c.1865A>G	CCDS1515.1	.	.	.	.	.	.	.	.	.	.	A	0.269	-0.994361	0.02145	.	.	ENSG00000136636	ENST00000259154	T	0.35048	1.33	5.65	3.78	0.43462	.	0.159548	0.56097	N	0.000021	T	0.07593	0.0191	N	0.00138	-2.015	0.23293	N	0.997966	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.36138	-0.9760	10	0.02654	T	1	-4.8796	11.6263	0.51147	0.1408:0.0:0.8592:0.0	.	372;374;620;622	B7ZAF7;B4DJX2;Q9Y597-2;Q9Y597	.;.;.;KCTD3_HUMAN	R	622	ENSP00000259154:H622R	ENSP00000259154:H622R	H	+	2	0	KCTD3	213859235	1.000000	0.71417	0.723000	0.30687	0.351000	0.29236	5.388000	0.66249	0.732000	0.32470	-0.472000	0.04984	CAC		0.363	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089871.2	NM_016121		14	75	0	0	0	1	0	14	75				
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	83								p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A83T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(247-249)Gcc>Acc																																						SO:0001583	missense	284802							g.chr20:29628245G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.247G>A	20.37:g.29628245G>A	ENSP00000278882:p.Ala83Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T	p.A83T							6	627	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.247G>A		.	.	.	.	.	.	.	.	.	.	g	18.80	3.700173	0.68501	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50277	0.75	2.08	2.08	0.27032	Actin cross-linking (1);	0.055129	0.64402	D	0.000001	T	0.40473	0.1118	.	.	.	0.51482	D	0.99992	B;P	0.40875	0.016;0.731	B;P	0.45558	0.085;0.485	T	0.12502	-1.0545	9	0.21540	T	0.41	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	88;83	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	T	83;88;83	ENSP00000408863:A88T	ENSP00000278882:A83T	A	+	1	0	FRG1B	28241906	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCC		0.353	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	100	0	0	0	1	0	4	100				
ADAM2	2515	broad.mit.edu	37	8	39613293	39613293	+	Missense_Mutation	SNP	C	C	A			TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr8:39613293C>A	ENST00000265708.4	-	16	1854	c.1751G>T	c.(1750-1752)aGc>aTc	p.S584I	ADAM2_ENST00000379853.2_Missense_Mutation_p.S428I|ADAM2_ENST00000347580.4_Missense_Mutation_p.S565I|ADAM2_ENST00000521880.1_Intron|AC136365.1_ENST00000408091.1_RNA	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	584	Cys-rich.				adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CATCTTTTGGCTGTCTGCATG	0.348																																						ENST00000265708.4																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53						c.(1750-1752)aGc>aTc		ADAM metallopeptidase domain 2							95.0	91.0	93.0					8																	39613293		2202	4300	6502	SO:0001583	missense	2515				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:39613293C>A	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"""ADAM metallopeptidase domain containing"""	198	protein-coding gene	gene with protein product	"""cancer/testis antigen 15"""	601533	"""fertilin beta"""	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.1751G>T	8.37:g.39613293C>A	ENSP00000265708:p.Ser584Ile					ADAM2_ENST00000347580.4_Missense_Mutation_p.S565I|ADAM2_ENST00000521880.1_Intron|ADAM2_ENST00000379853.2_Missense_Mutation_p.S428I	p.S584I	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	16	1854	-		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	584			Cys-rich.		P78326|Q9UQQ8	Missense_Mutation	SNP	ENST00000265708.4	37	c.1751G>T	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	C	8.865	0.947987	0.18356	.	.	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708	T;T;T	0.23552	1.9;4.31;1.9	4.67	-2.03	0.07365	ADAM, cysteine-rich (2);	.	.	.	.	T	0.24812	0.0602	M	0.73598	2.24	0.09310	N	1	P;B;B	0.34462	0.454;0.089;0.108	B;B;B	0.38562	0.276;0.098;0.222	T	0.33727	-0.9857	8	.	.	.	.	0.9279	0.01328	0.1599:0.2941:0.1563:0.3897	.	428;565;584	Q6P2G0;Q99965-2;Q99965	.;.;ADAM2_HUMAN	I	565;428;584	ENSP00000343854:S565I;ENSP00000369182:S428I;ENSP00000265708:S584I	.	S	-	2	0	ADAM2	39732450	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.573000	0.00426	-0.090000	0.12462	-0.136000	0.14681	AGC		0.348	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464		9	66	1	0	0.0477658	1	0.0477658	9	66				
MCC	4163	broad.mit.edu	37	5	112824054	112824054	+	Missense_Mutation	SNP	C	C	T	rs199741976		TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr5:112824054C>T	ENST00000408903.3	-	1	473	c.58G>A	c.(58-60)Ggc>Agc	p.G20S		NM_001085377.1	NP_001078846	P23508	CRCM_HUMAN	mutated in colorectal cancers	0					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.G20S(1)		endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		ccgctgccgccgccgccgccg	0.756																																						ENST00000408903.3																			1	Substitution - Missense(1)	p.G20S(1)	central_nervous_system(1)	endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(58-60)Ggc>Agc		mutated in colorectal cancers							5.0	7.0	7.0					5																	112824054		1172	2822	3994	SO:0001583	missense	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112824054C>T		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000408903.3:c.58G>A	5.37:g.112824054C>T	ENSP00000386227:p.Gly20Ser						p.G20S	NM_001085377.1	NP_001078846.1	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	1	473	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	548					D3DT05|Q6ZR04	Missense_Mutation	SNP	ENST00000408903.3	37	c.58G>A	CCDS43351.1	.	.	.	.	.	.	.	.	.	.	C	6.041	0.375835	0.11409	.	.	ENSG00000171444	ENST00000408903	T	0.34472	1.36	2.05	2.05	0.26809	.	.	.	.	.	T	0.46405	0.1391	.	.	.	0.25816	N	0.984338	D	0.89917	1.0	D	0.71184	0.972	T	0.22626	-1.0211	8	0.32370	T	0.25	.	4.5587	0.12149	0.0:0.7053:0.0:0.2947	.	20	P23508-2	.	S	20	ENSP00000386227:G20S	ENSP00000386227:G20S	G	-	1	0	MCC	112851953	0.002000	0.14202	0.063000	0.19743	0.016000	0.09150	1.079000	0.30766	1.100000	0.41517	0.491000	0.48974	GGC		0.756	MCC-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370839.1	NM_001085377		3	10	0	0	0	1	0	3	10				
CYP2A7	1549	broad.mit.edu	37	19	41387998	41387998	+	Silent	SNP	G	G	A			TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr19:41387998G>A	ENST00000301146.4	-	1	659	c.118C>T	c.(118-120)Ctg>Ttg	p.L40L	CYP2A7_ENST00000291764.3_Silent_p.L40L|CTC-490E21.12_ENST00000601627.1_Intron	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	40						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			ATGAAGGGCAGTGGGGTGGGT	0.587																																						ENST00000301146.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(118-120)Ctg>Ttg		cytochrome P450, family 2, subfamily A, polypeptide 7							91.0	73.0	79.0					19																	41387998		2203	4300	6503	SO:0001819	synonymous_variant	1549					endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41387998G>A	NM_000764	CCDS12569.1, CCDS42570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000198077	ENSG00000198077		"""Cytochrome P450s"""	2611	protein-coding gene	gene with protein product		608054	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7"""			7668294, 15128046	Standard	NM_030589		Approved	CYP2A	uc002opm.3	P20853	OTTHUMG00000182715	ENST00000301146.4:c.118C>T	19.37:g.41387998G>A						CYP2A7_ENST00000291764.3_Silent_p.L40L|CTC-490E21.12_ENST00000601627.1_Intron	p.L40L	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		1	659	-			40					Q13121	Silent	SNP	ENST00000301146.4	37	c.118C>T	CCDS12569.1																																																																																				0.587	CYP2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463269.2	NM_030589		3	41	0	0	0	1	0	3	41				
CACYBP	27101	broad.mit.edu	37	1	174977818	174977818	+	Missense_Mutation	SNP	T	T	C			TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr1:174977818T>C	ENST00000367679.2	+	5	954	c.506T>C	c.(505-507)gTt>gCt	p.V169A	MRPS14_ENST00000498253.1_5'Flank|CACYBP_ENST00000405362.1_Missense_Mutation_p.V126A|CACYBP_ENST00000367681.2_Missense_Mutation_p.V126A	NM_014412.2	NP_055227.1	Q9HB71	CYBP_HUMAN	calcyclin binding protein	169	Interaction with S100A6. {ECO:0000250}.|Interaction with SKP1.|SGS. {ECO:0000255|PROSITE- ProRule:PRU00386}.				aging (GO:0007568)|cardiac muscle cell differentiation (GO:0055007)|cellular response to calcium ion (GO:0071277)|negative regulation of cell death (GO:0060548)|positive regulation of DNA replication (GO:0045740)|response to growth hormone (GO:0060416)	beta-catenin destruction complex (GO:0030877)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nuclear envelope lumen (GO:0005641)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	11						CTGACCCAGGTTGAAAAGGAG	0.333																																						ENST00000367681.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	11						c.(376-378)gTt>gCt		calcyclin binding protein							85.0	83.0	84.0					1																	174977818		2203	4300	6503	SO:0001583	missense	27101					beta-catenin destruction complex	protein homodimerization activity	g.chr1:174977818T>C	BC022352	CCDS1315.1, CCDS30942.1	1q24-q25	2008-02-05			ENSG00000116161	ENSG00000116161			30423	protein-coding gene	gene with protein product		606186				11389839, 12421809	Standard	XM_005245092		Approved	SIP, S100A6BP	uc001gkj.1	Q9HB71	OTTHUMG00000034941	ENST00000367679.2:c.506T>C	1.37:g.174977818T>C	ENSP00000356652:p.Val169Ala					CACYBP_ENST00000405362.1_Missense_Mutation_p.V126A|CACYBP_ENST00000367679.2_Missense_Mutation_p.V169A	p.V126A	NM_001007214.1	NP_001007215.1	Q9HB71	CYBP_HUMAN			5	1017	+			169			CS.|Interaction with SKP1.		B2ZWH2|B3KSF1|O60666|Q5R370|Q5R371	Missense_Mutation	SNP	ENST00000367679.2	37	c.377T>C	CCDS1315.1	.	.	.	.	.	.	.	.	.	.	T	16.13	3.034696	0.54896	.	.	ENSG00000116161	ENST00000367681;ENST00000450101;ENST00000367679;ENST00000405362	.	.	.	5.41	5.41	0.78517	SGS (2);HSP20-like chaperone (1);	0.000000	0.85682	D	0.000000	T	0.68677	0.3027	M	0.62723	1.935	0.80722	D	1	B	0.19073	0.033	B	0.33620	0.167	T	0.65948	-0.6044	9	0.39692	T	0.17	0.2141	15.0861	0.72155	0.0:0.0:0.0:1.0	.	169	Q9HB71	CYBP_HUMAN	A	126;142;169;126	.	ENSP00000356652:V169A	V	+	2	0	CACYBP	173244441	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	6.399000	0.73248	2.052000	0.61016	0.533000	0.62120	GTT		0.333	CACYBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084583.3	NM_014412		10	29	0	0	0	1	0	10	29				
MUC16	94025	broad.mit.edu	37	19	9087339	9087339	+	Missense_Mutation	SNP	C	C	T			TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr19:9087339C>T	ENST00000397910.4	-	1	4679	c.4476G>A	c.(4474-4476)atG>atA	p.M1492I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1492	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						AAGGTGTGGACATAGGTGGAA	0.423																																						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.(4474-4476)atG>atA		mucin 16, cell surface associated							219.0	206.0	210.0					19																	9087339		1937	4138	6075	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9087339C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.4476G>A	19.37:g.9087339C>T	ENSP00000381008:p.Met1492Ile						p.M1492I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	4679	-			1492			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.4476G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	8.718	0.913626	0.17907	.	.	ENSG00000181143	ENST00000397910	T	0.02085	4.46	0.821	0.821	0.18799	.	.	.	.	.	T	0.01353	0.0044	N	0.08118	0	.	.	.	B	0.17268	0.021	B	0.08055	0.003	T	0.36578	-0.9742	8	0.87932	D	0	.	4.9522	0.14021	0.0:1.0:0.0:0.0	.	1492	B5ME49	.	I	1492	ENSP00000381008:M1492I	ENSP00000381008:M1492I	M	-	3	0	MUC16	8948339	0.000000	0.05858	0.012000	0.15200	0.843000	0.47879	-0.298000	0.08265	0.724000	0.32296	0.313000	0.20887	ATG		0.423	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		50	65	0	0	0	1	0	50	65				
ANKFN1	162282	broad.mit.edu	37	17	54452061	54452061	+	Missense_Mutation	SNP	T	T	C			TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr17:54452061T>C	ENST00000318698.2	+	7	940	c.905T>C	c.(904-906)gTa>gCa	p.V302A	ANKFN1_ENST00000566473.2_Missense_Mutation_p.V302A	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	302	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.									NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						GCAGCTGTAGTAACCAGGTAT	0.448																																						ENST00000566473.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						c.(904-906)gTa>gCa		ankyrin-repeat and fibronectin type III domain containing 1							164.0	145.0	152.0					17																	54452061		2203	4300	6503	SO:0001583	missense	162282							g.chr17:54452061T>C	AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.905T>C	17.37:g.54452061T>C	ENSP00000321627:p.Val302Ala					ANKFN1_ENST00000318698.2_Missense_Mutation_p.V302A	p.V302A			Q8N957	ANKF1_HUMAN			7	905	+			302			Fibronectin type-III.			Missense_Mutation	SNP	ENST00000318698.2	37	c.905T>C	CCDS32686.1	.	.	.	.	.	.	.	.	.	.	T	11.87	1.767827	0.31320	.	.	ENSG00000153930	ENST00000318698	T	0.59083	0.29	5.51	5.51	0.81932	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.056135	0.64402	D	0.000001	T	0.72153	0.3425	M	0.78637	2.42	0.54753	D	0.999981	D	0.63046	0.992	P	0.61328	0.887	T	0.69756	-0.5059	10	0.16896	T	0.51	-12.1664	15.9214	0.79580	0.0:0.0:0.0:1.0	.	302	Q8N957	ANKF1_HUMAN	A	302	ENSP00000321627:V302A	ENSP00000321627:V302A	V	+	2	0	ANKFN1	51807060	1.000000	0.71417	0.977000	0.42913	0.882000	0.50991	7.434000	0.80377	2.228000	0.72767	0.523000	0.50628	GTA		0.448	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1	NM_153228		19	46	0	0	0	1	0	19	46				
FRMPD4	9758	broad.mit.edu	37	X	12735860	12735860	+	Missense_Mutation	SNP	C	C	G	rs372874844		TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chrX:12735860C>G	ENST00000380682.1	+	16	3421	c.2915C>G	c.(2914-2916)gCt>gGt	p.A972G		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	972					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CACGCCCTGGCTGCTAGGCCA	0.597																																						ENST00000380682.1																			0				breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						c.(2914-2916)gCt>gGt		FERM and PDZ domain containing 4							58.0	59.0	59.0					X																	12735860		2203	4300	6503	SO:0001583	missense	9758				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chrX:12735860C>G	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.2915C>G	X.37:g.12735860C>G	ENSP00000370057:p.Ala972Gly						p.A972G	NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN			16	3421	+			972					A8K0X9|O15032	Missense_Mutation	SNP	ENST00000380682.1	37	c.2915C>G	CCDS35201.1	.	.	.	.	.	.	.	.	.	.	C	7.772	0.707649	0.15239	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.06768	3.26	5.47	5.47	0.80525	.	0.344938	0.31697	N	0.007215	T	0.10208	0.0250	M	0.63428	1.95	0.22581	N	0.998964	B;B	0.16166	0.016;0.007	B;B	0.09377	0.004;0.003	T	0.22487	-1.0215	10	0.19147	T	0.46	-6.8391	11.5846	0.50910	0.0:0.9154:0.0:0.0846	.	964;972	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	G	972;963;961	ENSP00000370057:A972G	ENSP00000304583:A961G	A	+	2	0	FRMPD4	12645781	0.575000	0.26692	0.219000	0.23793	0.376000	0.30014	1.749000	0.38319	2.293000	0.77203	0.513000	0.50165	GCT		0.597	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		5	78	0	0	0	1	0	5	78				
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	82								p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.L82S(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(244-246)tTg>tCg																																						SO:0001583	missense	284802							g.chr20:29628243T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.245T>C	20.37:g.29628243T>C	ENSP00000278882:p.Leu82Ser					FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S	p.L82S							6	625	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.245T>C		.	.	.	.	.	.	.	.	.	.	t	12.14	1.848999	0.32699	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.147685	0.45361	D	0.000380	T	0.38665	0.1049	.	.	.	0.46185	D	0.99891	B;B	0.27656	0.03;0.184	B;B	0.35813	0.11;0.211	T	0.24548	-1.0157	9	0.38643	T	0.18	.	8.0833	0.30758	0.0:0.0:0.0:1.0	.	87;82	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	S	82;87;82	ENSP00000408863:L87S	ENSP00000278882:L82S	L	+	2	0	FRG1B	28241904	1.000000	0.71417	0.998000	0.56505	0.541000	0.35023	6.955000	0.76007	1.208000	0.43306	0.347000	0.21830	TTG		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	100	0	0	0	1	0	4	100				
ALKBH1	8846	broad.mit.edu	37	14	78174291	78174291	+	Silent	SNP	C	C	T			TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr14:78174291C>T	ENST00000216489.3	-	1	72	c.57G>A	c.(55-57)ggG>ggA	p.G19G	SLIRP_ENST00000557623.1_5'Flank|SLIRP_ENST00000557431.1_5'Flank|SLIRP_ENST00000238688.5_5'Flank|SLIRP_ENST00000557342.1_5'Flank	NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	19					developmental growth (GO:0048589)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|in utero embryonic development (GO:0001701)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|oxidative demethylation (GO:0070989)|placenta development (GO:0001890)|RNA repair (GO:0042245)	mitochondrion (GO:0005739)|nuclear euchromatin (GO:0005719)	chemoattractant activity (GO:0042056)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		AGGCGTCCTCCCCGGGCTCAG	0.652																																						ENST00000216489.3																			0				endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9						c.(55-57)ggG>ggA		alkB, alkylation repair homolog 1 (E. coli)							30.0	34.0	33.0					14																	78174291		2200	4295	6495	SO:0001819	synonymous_variant	8846				DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr14:78174291C>T	X91992	CCDS32127.1	14q24	2014-07-23	2006-02-09	2006-02-09	ENSG00000100601	ENSG00000100601		"""Alkylation repair homologs"""	17911	protein-coding gene	gene with protein product		605345	"""alkB, alkylation repair homolog (E. coli)"""	ALKBH		8600462	Standard	XM_005268165		Approved	hABH, alkB, ABH	uc001xuc.1	Q13686	OTTHUMG00000171542	ENST00000216489.3:c.57G>A	14.37:g.78174291C>T							p.G19G	NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)	1	72	-			19					Q8TAU1|Q9ULA7	Silent	SNP	ENST00000216489.3	37	c.57G>A	CCDS32127.1																																																																																				0.652	ALKBH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414037.1	NM_006020		6	42	0	0	0	1	0	6	42				
SACS	26278	broad.mit.edu	37	13	23906391	23906391	+	Missense_Mutation	SNP	C	C	A			TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr13:23906391C>A	ENST00000382292.3	-	9	11897	c.11624G>T	c.(11623-11625)cGt>cTt	p.R3875L	SACS_ENST00000382298.3_Missense_Mutation_p.R3875L|SACS_ENST00000402364.1_Missense_Mutation_p.R3125L			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	3875					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CTTAACTGTACGCATTTCATT	0.383																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(11623-11625)cGt>cTt		spastic ataxia of Charlevoix-Saguenay (sacsin)							140.0	138.0	139.0					13																	23906391		2203	4299	6502	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23906391C>A	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.11624G>T	13.37:g.23906391C>A	ENSP00000371729:p.Arg3875Leu					SACS_ENST00000402364.1_Missense_Mutation_p.R3125L|SACS_ENST00000382292.3_Missense_Mutation_p.R3875L	p.R3875L	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	12212	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	3875					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.11624G>T	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	25.1	4.598543	0.87055	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.88664	-2.26;-2.41;-2.26	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.92903	0.7742	L	0.46157	1.445	0.53688	D	0.99997	D	0.89917	1.0	D	0.81914	0.995	D	0.91694	0.5368	10	0.44086	T	0.13	.	20.3368	0.98748	0.0:1.0:0.0:0.0	.	3875	Q9NZJ4	SACS_HUMAN	L	3875;3125;3875	ENSP00000371729:R3875L;ENSP00000385844:R3125L;ENSP00000371735:R3875L	ENSP00000371729:R3875L	R	-	2	0	SACS	22804391	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	7.818000	0.86416	2.805000	0.96524	0.655000	0.94253	CGT		0.383	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		21	107	1	0	3.62473e-10	1	3.97551e-10	21	107				
WDR64	128025	broad.mit.edu	37	1	241886684	241886684	+	Silent	SNP	C	C	T	rs142859030		TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr1:241886684C>T	ENST00000366552.2	+	9	1317	c.1110C>T	c.(1108-1110)gcC>gcT	p.A370A	WDR64_ENST00000437684.2_Silent_p.A370A	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	370										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			TCAGTATCGCCGAGATCGTAA	0.418													C|||	1	0.000199681	0.0	0.0	5008	,	,		19451	0.0		0.001	False		,,,				2504	0.0					ENST00000366552.2																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1108-1110)gcC>gcT		WD repeat domain 64							105.0	99.0	101.0					1																	241886684		2203	4300	6503	SO:0001819	synonymous_variant	128025							g.chr1:241886684C>T	AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"""WD repeat domain containing"""	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.1110C>T	1.37:g.241886684C>T						WDR64_ENST00000437684.2_Silent_p.A370A	p.A370A	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0116)		9	1317	+	Ovarian(103;0.103)	all_cancers(173;0.0121)	370					B1ANT0|Q7Z573|Q96LY9	Silent	SNP	ENST00000366552.2	37	c.1110C>T																																																																																					0.418	WDR64-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144625		4	24	0	0	0	1	0	4	24				
SH3BP4	23677	broad.mit.edu	37	2	235950986	235950986	+	Missense_Mutation	SNP	G	G	A			TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr2:235950986G>A	ENST00000409212.1	+	4	2080	c.1573G>A	c.(1573-1575)Ggg>Agg	p.G525R	SH3BP4_ENST00000344528.4_Missense_Mutation_p.G525R|SH3BP4_ENST00000392011.2_Missense_Mutation_p.G525R			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	525					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		GCAGCTGTGGGGGAAGCACCA	0.572																																						ENST00000409212.1																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44						c.(1573-1575)Ggg>Agg		SH3-domain binding protein 4							63.0	65.0	65.0					2																	235950986		2203	4300	6503	SO:0001583	missense	23677				endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	g.chr2:235950986G>A	AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.1573G>A	2.37:g.235950986G>A	ENSP00000386862:p.Gly525Arg					SH3BP4_ENST00000392011.2_Missense_Mutation_p.G525R|SH3BP4_ENST00000344528.4_Missense_Mutation_p.G525R	p.G525R			Q9P0V3	SH3B4_HUMAN		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)	4	2080	+		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)	525					O95082|Q309A3|Q53QD0|Q53TD1	Missense_Mutation	SNP	ENST00000409212.1	37	c.1573G>A	CCDS2513.1	.	.	.	.	.	.	.	.	.	.	G	16.20	3.056540	0.55325	.	.	ENSG00000130147	ENST00000392011;ENST00000409212;ENST00000344528	T;T;T	0.16457	2.34;2.34;2.34	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.44871	0.1314	M	0.76838	2.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.48692	-0.9013	10	0.87932	D	0	-26.6651	16.8005	0.85613	0.0:0.0:1.0:0.0	.	525;525	A8K594;Q9P0V3	.;SH3B4_HUMAN	R	525	ENSP00000375867:G525R;ENSP00000386862:G525R;ENSP00000340237:G525R	ENSP00000340237:G525R	G	+	1	0	SH3BP4	235615725	1.000000	0.71417	0.997000	0.53966	0.268000	0.26511	9.453000	0.97619	2.291000	0.77112	0.591000	0.81541	GGG		0.572	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1			8	42	0	0	0	1	0	8	42				
TM2D1	83941	broad.mit.edu	37	1	62190656	62190656	+	Missense_Mutation	SNP	A	A	C			TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr1:62190656A>C	ENST00000606498.1	-	1	157	c.137T>G	c.(136-138)cTt>cGt	p.L46R	TM2D1_ENST00000371180.2_Missense_Mutation_p.L108R|TM2D1_ENST00000371177.2_Missense_Mutation_p.L46R|TM2D1_ENST00000294613.5_Missense_Mutation_p.L46R			Q9BX74	TM2D1_HUMAN	TM2 domain containing 1	46					apoptotic signaling pathway (GO:0097190)	integral component of plasma membrane (GO:0005887)	beta-amyloid binding (GO:0001540)|G-protein coupled receptor activity (GO:0004930)			large_intestine(2)|lung(3)|ovary(1)	6						CTCGCACTTAAGCGACTCCTC	0.637																																						ENST00000371177.2																			0				large_intestine(2)|lung(3)|ovary(1)	6						c.(136-138)cTt>cGt		TM2 domain containing 1							33.0	40.0	38.0					1																	62190656		1935	4116	6051	SO:0001583	missense	83941				apoptosis			g.chr1:62190656A>C	AF353990	CCDS65554.1	1p32.1	2008-02-05			ENSG00000162604	ENSG00000162604			24142	protein-coding gene	gene with protein product		610080				11278849, 12553667	Standard	NM_032027		Approved	BBP	uc001czz.1	Q9BX74	OTTHUMG00000008466	ENST00000606498.1:c.137T>G	1.37:g.62190656A>C	ENSP00000475700:p.Leu46Arg					TM2D1_ENST00000294613.5_Missense_Mutation_p.L46R|TM2D1_ENST00000371180.2_Missense_Mutation_p.L108R|TM2D1_ENST00000606498.1_Missense_Mutation_p.L46R	p.L46R			Q9BX74	TM2D1_HUMAN			1	149	-			46					A6NDA8	Missense_Mutation	SNP	ENST00000606498.1	37	c.137T>G		.	.	.	.	.	.	.	.	.	.	A	8.085	0.773345	0.16051	.	.	ENSG00000162604	ENST00000371180;ENST00000294613;ENST00000371178;ENST00000371177	.	.	.	4.68	-0.348	0.12613	.	0.916184	0.09244	N	0.828840	T	0.30262	0.0759	L	0.29908	0.895	0.09310	N	1	B	0.19583	0.037	B	0.23018	0.043	T	0.26677	-1.0096	9	0.39692	T	0.17	-1.223	9.1324	0.36852	0.6798:0.0:0.3202:0.0	.	46	Q9BX74	TM2D1_HUMAN	R	108;46;46;46	.	ENSP00000294613:L46R	L	-	2	0	TM2D1	61963244	0.113000	0.22115	0.260000	0.24451	0.412000	0.31113	0.179000	0.16840	-0.447000	0.07138	-1.777000	0.00654	CTT		0.637	TM2D1-012	KNOWN	non_canonical_U12|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470779.2	NM_032027		3	34	0	0	0	1	0	3	34				
HFM1	164045	broad.mit.edu	37	1	91866581	91866581	+	Missense_Mutation	SNP	T	T	C			TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr1:91866581T>C	ENST00000370425.3	-	2	157	c.59A>G	c.(58-60)gAt>gGt	p.D20G	HFM1_ENST00000370424.3_5'UTR|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	20					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TTCAACTTCATCTGGTTTTTC	0.299																																						ENST00000370425.3																			0				breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75						c.(58-60)gAt>gGt		HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)							43.0	45.0	44.0					1																	91866581		2201	4287	6488	SO:0001583	missense	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91866581T>C	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.59A>G	1.37:g.91866581T>C	ENSP00000359454:p.Asp20Gly					HFM1_ENST00000370424.3_5'UTR|HFM1_ENST00000294696.5_5'UTR	p.D20G	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	2	157	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	20					B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.59A>G	CCDS30769.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.19|12.19	1.864969|1.864969	0.32977|0.32977	.|.	.|.	ENSG00000162669|ENSG00000162669	ENST00000370425;ENST00000541820;ENST00000448819;ENST00000455133|ENST00000370421;ENST00000427444	T;T|T	0.64803|0.28895	-0.12;1.0|1.59	5.57|5.57	3.18|3.18	0.36537|0.36537	.|.	.|.	.|.	.|.	.|.	T|T	0.10380|0.10380	0.0254|0.0254	N|N	0.12182|0.12182	0.205|0.205	0.80722|0.80722	D|D	1|1	B;B|.	0.21225|.	0.053;0.009|.	B;B|.	0.17722|.	0.019;0.007|.	T|T	0.09271|0.09271	-1.0682|-1.0682	9|7	0.49607|0.72032	T|D	0.09|0.01	.|.	7.5786|7.5786	0.27950|0.27950	0.0:0.1731:0.0:0.8269|0.0:0.1731:0.0:0.8269	.|.	20;20|.	B7ZM16;A2PYH4|.	.;HFM1_HUMAN|.	G|V	20;53;20;20|16	ENSP00000359454:D20G;ENSP00000409827:D20G|ENSP00000388900:M16V	ENSP00000359454:D20G|ENSP00000359450:M16V	D|M	-|-	2|1	0|0	HFM1|HFM1	91639169|91639169	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.977000|0.977000	0.68977|0.68977	0.597000|0.597000	0.24059|0.24059	0.363000|0.363000	0.24346|0.24346	-0.451000|-0.451000	0.05528|0.05528	GAT|ATG		0.299	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		4	9	0	0	0	1	0	4	9				
NOL6	65083	broad.mit.edu	37	9	33466940	33466940	+	Silent	SNP	G	G	C			TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr9:33466940G>C	ENST00000379471.2	-	15	2007	c.1920C>G	c.(1918-1920)ccC>ccG	p.P640P	NOL6_ENST00000464829.1_Intron|NOL6_ENST00000455041.2_Silent_p.P588P			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	640					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		GTGCATCCAGGGGGCCCCCCA	0.517											OREG0019137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000379471.2																			0				endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27						c.(1918-1920)ccC>ccG		nucleolar protein 6 (RNA-associated)							204.0	224.0	217.0					9																	33466940		2203	4300	6503	SO:0001819	synonymous_variant	65083				rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding	g.chr9:33466940G>C	AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"""nucleolar protein family 6 (RNA-associated)"""			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.1920C>G	9.37:g.33466940G>C			OREG0019137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	840	NOL6_ENST00000455041.2_Silent_p.P588P|NOL6_ENST00000464829.1_Intron	p.P640P			Q9H6R4	NOL6_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)	15	2007	-			640					Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Silent	SNP	ENST00000379471.2	37	c.1920C>G																																																																																					0.517	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	protein_coding	OTTHUMT00000001019.2	NM_022917		5	238	0	0	0	1	0	5	238				
PDE1B	5153	broad.mit.edu	37	12	54966508	54966508	+	Missense_Mutation	SNP	C	C	T			TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr12:54966508C>T	ENST00000243052.3	+	7	1154	c.718C>T	c.(718-720)Ctc>Ttc	p.L240F	PDE1B_ENST00000550620.1_Missense_Mutation_p.L220F|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000538346.1_Missense_Mutation_p.L199F	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	240	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	TTGCTTCTTGCTCCGCACAGG	0.517																																						ENST00000243052.3																			0				endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						c.(718-720)Ctc>Ttc		phosphodiesterase 1B, calmodulin-dependent							275.0	253.0	260.0					12																	54966508		2203	4300	6503	SO:0001583	missense	5153				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:54966508C>T	U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	3.1.4.17	"""Phosphodiesterases"""	8775	protein-coding gene	gene with protein product		171891		PDES1B		8855339, 9419816	Standard	NM_000924		Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	ENST00000243052.3:c.718C>T	12.37:g.54966508C>T	ENSP00000243052:p.Leu240Phe					PDE1B_ENST00000538346.1_Missense_Mutation_p.L199F|PDE1B_ENST00000550620.1_Missense_Mutation_p.L220F|PDE1B_ENST00000394277.3_3'UTR	p.L240F	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN			7	1154	+			240			Catalytic (By similarity).		Q92825|Q96KP3	Missense_Mutation	SNP	ENST00000243052.3	37	c.718C>T	CCDS8882.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.269406	0.40095	.	.	ENSG00000123360	ENST00000243052;ENST00000538346;ENST00000550620	D;D;D	0.81821	-1.54;-1.54;-1.54	4.98	4.09	0.47781	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.64402	D	0.000002	T	0.74772	0.3760	L	0.28649	0.875	0.49483	D	0.99979	B;B	0.32128	0.2;0.357	B;P	0.44921	0.211;0.464	T	0.66480	-0.5913	10	0.10902	T	0.67	.	11.4578	0.50191	0.0:0.9126:0.0:0.0874	.	220;240	Q01064-2;Q01064	.;PDE1B_HUMAN	F	240;199;220	ENSP00000243052:L240F;ENSP00000442559:L199F;ENSP00000448519:L220F	ENSP00000243052:L240F	L	+	1	0	PDE1B	53252775	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.430000	0.44766	1.478000	0.48253	0.655000	0.94253	CTC		0.517	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406203.1			6	150	0	0	0	1	0	6	150				
YWHAQ	10971	broad.mit.edu	37	2	9728380	9728380	+	Missense_Mutation	SNP	T	T	C	rs200884745		TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr2:9728380T>C	ENST00000381844.4	-	3	659	c.496A>G	c.(496-498)Atc>Gtc	p.I166V	YWHAQ_ENST00000474715.1_5'UTR|YWHAQ_ENST00000238081.3_Missense_Mutation_p.I166V			P27348	1433T_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta	166					apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|small GTPase mediated signal transduction (GO:0007264)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|protein complex (GO:0043234)	protein N-terminus binding (GO:0047485)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.241)		CCCAGGCGGATTGGGTGTGTG	0.423													T|||	1	0.000199681	0.0	0.0014	5008	,	,		17307	0.0		0.0	False		,,,				2504	0.0					ENST00000381844.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						c.(496-498)Atc>Gtc		tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide							108.0	104.0	105.0					2																	9728380		2203	4300	6503	SO:0001583	missense	10971				negative regulation of transcription, DNA-dependent	centrosome|nucleus	protein N-terminus binding	g.chr2:9728380T>C	AF070556	CCDS1666.1	2p25.2-p25.1	2013-12-03	2013-12-03		ENSG00000134308	ENSG00000134308			12854	protein-coding gene	gene with protein product	"""protein tau"""	609009	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide"""			11080204	Standard	NM_006826		Approved	HS1, 14-3-3	uc002qzx.3	P27348	OTTHUMG00000013848	ENST00000381844.4:c.496A>G	2.37:g.9728380T>C	ENSP00000371267:p.Ile166Val					YWHAQ_ENST00000238081.3_Missense_Mutation_p.I166V|YWHAQ_ENST00000474715.1_5'UTR	p.I166V			P27348	1433T_HUMAN		Epithelial(75;0.241)	3	659	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		166					D6W4Z5|Q567U5|Q5TZU8|Q9UP48	Missense_Mutation	SNP	ENST00000381844.4	37	c.496A>G	CCDS1666.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	T	25.8	4.676107	0.88445	.	.	ENSG00000134308	ENST00000238081;ENST00000381844;ENST00000539979	T;T	0.49720	0.77;0.77	5.56	5.56	0.83823	14-3-3 domain (4);	0.068749	0.56097	N	0.000032	T	0.62539	0.2436	M	0.74467	2.265	0.58432	D	0.999992	P	0.49358	0.923	P	0.53006	0.715	T	0.67764	-0.5586	10	0.87932	D	0	.	16.0623	0.80847	0.0:0.0:0.0:1.0	.	166	P27348	1433T_HUMAN	V	166;166;131	ENSP00000238081:I166V;ENSP00000371267:I166V	ENSP00000238081:I166V	I	-	1	0	YWHAQ	9645831	1.000000	0.71417	0.978000	0.43139	0.989000	0.77384	6.256000	0.72473	2.250000	0.74265	0.456000	0.33151	ATC		0.423	YWHAQ-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039014.4	NM_006826		4	53	0	0	0	1	0	4	53				
HSP90AA1	3320	broad.mit.edu	37	14	102552237	102552237	+	Silent	SNP	A	A	T			TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr14:102552237A>T	ENST00000216281.8	-	3	592	c.387T>A	c.(385-387)tcT>tcA	p.S129S	HSP90AA1_ENST00000441629.2_Intron|HSP90AA1_ENST00000334701.7_Silent_p.S251S	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	129					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	GGCCAATCATAGAGATATCTG	0.448																																						ENST00000334701.7																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28						c.(751-753)tcT>tcA		heat shock protein 90kDa alpha (cytosolic), class A member 1	Rifabutin(DB00615)						70.0	68.0	69.0					14																	102552237		2203	4300	6503	SO:0001819	synonymous_variant	3320				axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding	g.chr14:102552237A>T	M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"""Heat shock proteins / HSPC"""	5253	protein-coding gene	gene with protein product		140571	"""heat shock 90kD protein 1, alpha"", ""heat shock 90kDa protein 1, alpha"""	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.387T>A	14.37:g.102552237A>T						HSP90AA1_ENST00000216281.8_Silent_p.S129S|HSP90AA1_ENST00000441629.2_Intron	p.S251S	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN			4	1034	-			129					A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Silent	SNP	ENST00000216281.8	37	c.753T>A	CCDS9967.1																																																																																				0.448	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2	NM_005348		39	50	0	0	0	1	0	39	50				
SP8	221833	broad.mit.edu	37	7	20824941	20824943	+	In_Frame_Del	DEL	GCC	GCC	-	rs372591893	byFrequency	TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr7:20824941_20824943delGCC	ENST00000361443.4	-	3	676_678	c.439_441delGGC	c.(439-441)ggcdel	p.G147del	SP8_ENST00000418710.2_In_Frame_Del_p.G165del	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	147					dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G165delG(1)|p.G147delG(1)		NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						GCGCGGAGGAgccgccgccgccg	0.729														461	0.0920527	0.0098	0.1124	5008	,	,		5525	0.002		0.2664	False		,,,				2504	0.1022					ENST00000361443.4																			2	Deletion - In frame(2)	p.G165delG(1)|p.G147delG(1)	central_nervous_system(2)	NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(439-441)del		Sp8 transcription factor			,	50,654		19,12,321					,	0.5	0.3			2	602,1424		217,168,628	no	coding,coding	SP8	NM_198956.2,NM_182700.4	,	236,180,949	A1A1,A1R,RR		29.7137,7.1023,23.8828	,	,		652,2078				SO:0001651	inframe_deletion	221833				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:20824941_20824943delGCC		CCDS5372.1, CCDS43555.1	7p21.2	2013-01-08			ENSG00000164651	ENSG00000164651		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	19196	protein-coding gene	gene with protein product		608306					Standard	NM_182700		Approved		uc003suz.3	Q8IXZ3	OTTHUMG00000094788	ENST00000361443.4:c.439_441delGGC	7.37:g.20824950_20824952delGCC	ENSP00000354482:p.Gly147del					SP8_ENST00000418710.2_In_Frame_Del_p.G165del	p.G147del	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN			3	676_678	-			147					Q7Z615|Q7Z616|Q96MJ1	In_Frame_Del	DEL	ENST00000361443.4	37	c.439_441delGGC	CCDS5372.1																																																																																				0.729	SP8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326904.2			2	4						2	4	---	---	---	---
IRF7	3665	broad.mit.edu	37	11	613833	613833	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr11:613833delC	ENST00000397574.2	-	8	1168	c.799delG	c.(799-801)gcafs	p.A267fs	IRF7_ENST00000397562.3_5'UTR|IRF7_ENST00000348655.6_Frame_Shift_Del_p.A238fs|IRF7_ENST00000397566.1_Frame_Shift_Del_p.A280fs|IRF7_ENST00000330243.5_Frame_Shift_Del_p.A280fs|IRF7_ENST00000397570.1_Frame_Shift_Del_p.A238fs|IRF7_ENST00000525445.1_Frame_Shift_Del_p.A161fs	NM_001572.3	NP_001563.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	267					cellular response to DNA damage stimulus (GO:0006974)|cytokine-mediated signaling pathway (GO:0019221)|establishment of viral latency (GO:0019043)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-alpha production (GO:0032607)|interferon-beta production (GO:0032608)|interferon-gamma-mediated signaling pathway (GO:0060333)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of adaptive immune response (GO:0002819)|regulation of immune response (GO:0050776)|regulation of monocyte differentiation (GO:0045655)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|regulation of MyD88-independent toll-like receptor signaling pathway (GO:0034127)|regulation of type I interferon production (GO:0032479)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TACGGCTCTGCCTGGTGCGGG	0.697																																						ENST00000397566.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(838-840)cafs		interferon regulatory factor 7							22.0	24.0	23.0					11																	613833		2186	4291	6477	SO:0001589	frameshift_variant	3665				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr11:613833delC	U53830	CCDS7703.1, CCDS7704.1, CCDS7705.1	11p15.5	2005-10-10			ENSG00000185507	ENSG00000185507			6122	protein-coding gene	gene with protein product		605047					Standard	XM_005252906		Approved		uc001lqh.3	Q92985	OTTHUMG00000132019	ENST00000397574.2:c.799delG	11.37:g.613833delC	ENSP00000380704:p.Ala267fs					IRF7_ENST00000525445.1_Frame_Shift_Del_p.A161fs|IRF7_ENST00000397562.3_5'UTR|IRF7_ENST00000397570.1_Frame_Shift_Del_p.A238fs|IRF7_ENST00000397574.2_Frame_Shift_Del_p.A267fs|IRF7_ENST00000348655.6_Frame_Shift_Del_p.A238fs|IRF7_ENST00000330243.5_Frame_Shift_Del_p.A280fs	p.A280fs	NM_004031.2	NP_004022.2	Q92985	IRF7_HUMAN		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	6	1247	-		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	267					B9EGL3|O00331|O00332|O00333|O75924|Q9UE79	Frame_Shift_Del	DEL	ENST00000397574.2	37	c.838delG	CCDS7703.1																																																																																				0.697	IRF7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255026.1	NM_001572		2	4						2	4	---	---	---	---
