#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
XIRP2	129446	broad.mit.edu	37	2	168099892	168099892	+	Missense_Mutation	SNP	G	G	A			TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr2:168099892G>A	ENST00000409195.1	+	9	2079	c.1990G>A	c.(1990-1992)Gac>Aac	p.D664N	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.D664N|XIRP2_ENST00000409273.1_Missense_Mutation_p.D442N|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	489					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAGGCCATTGGACTCAATGAA	0.428																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(1990-1992)Gac>Aac		xin actin-binding repeat containing 2							75.0	71.0	72.0					2																	168099892		1906	4138	6044	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168099892G>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.1990G>A	2.37:g.168099892G>A	ENSP00000386840:p.Asp664Asn					XIRP2_ENST00000295237.9_Missense_Mutation_p.D664N|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D442N|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron	p.D664N	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	2079	+			489					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.1990G>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.268433	0.80469	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.09073	3.04;3.04;3.02	5.93	5.93	0.95920	.	0.047758	0.85682	D	0.000000	T	0.31358	0.0794	M	0.80422	2.495	0.53005	D	0.999963	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.73708	0.957;0.967;0.981	T	0.01030	-1.1475	10	0.87932	D	0	-16.5015	15.4228	0.75025	0.068:0.0:0.932:0.0	.	489;489;442	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	N	664;664;442	ENSP00000386840:D664N;ENSP00000295237:D664N;ENSP00000387255:D442N	ENSP00000295237:D664N	D	+	1	0	XIRP2	167808138	1.000000	0.71417	0.291000	0.24904	0.961000	0.63080	4.650000	0.61440	2.814000	0.96858	0.655000	0.94253	GAC		0.428	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		37	53	0	0	0	1	0	37	53				
FAM63A	55793	broad.mit.edu	37	1	150974945	150974945	+	Missense_Mutation	SNP	C	C	T	rs201811445		TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr1:150974945C>T	ENST00000361936.5	-	3	1103	c.149G>A	c.(148-150)cGg>cAg	p.R50Q	FAM63A_ENST00000493834.2_Intron|FAM63A_ENST00000361738.6_Missense_Mutation_p.R98Q|FAM63A_ENST00000470877.1_Intron|FAM63A_ENST00000312210.5_Intron	NM_018379.4	NP_060849	Q8N5J2	FA63A_HUMAN	family with sequence similarity 63, member A	50						extracellular vesicular exosome (GO:0070062)		p.R50Q(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGCTGGCTCCCGTTCTCTAGC	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		18984	0.001		0.0	False		,,,				2504	0.0					ENST00000361936.5																			1	Substitution - Missense(1)	p.R50Q(1)	lung(1)	breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(148-150)cGg>cAg		family with sequence similarity 63, member A							109.0	100.0	103.0					1																	150974945		2203	4300	6503	SO:0001583	missense	55793						protein binding	g.chr1:150974945C>T	BC032321	CCDS976.1, CCDS30854.1, CCDS53361.1, CCDS55635.1	1q21.2	2008-02-05			ENSG00000143409	ENSG00000143409			25648	protein-coding gene	gene with protein product						10718198	Standard	NM_001040217		Approved	FLJ11280	uc010pcn.2	Q8N5J2	OTTHUMG00000035061	ENST00000361936.5:c.149G>A	1.37:g.150974945C>T	ENSP00000354814:p.Arg50Gln					FAM63A_ENST00000312210.5_Intron|FAM63A_ENST00000493834.2_Intron|FAM63A_ENST00000361738.6_Missense_Mutation_p.R98Q|FAM63A_ENST00000470877.1_Intron	p.R50Q	NM_018379.4	NP_060849.2	Q8N5J2	FA63A_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		3	1103	-	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		50					B3KWP4|B3KWV8|B4DXF2|B4E1S4|D3DV09|J3KP53|Q5SZF0|Q9NUL9|Q9P2F7	Missense_Mutation	SNP	ENST00000361936.5	37	c.149G>A	CCDS976.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	1.529	-0.544968	0.04024	.	.	ENSG00000143409	ENST00000361936;ENST00000361738	T;T	0.42131	1.05;0.98	5.18	1.23	0.21249	.	18.889900	0.03847	N	0.271629	T	0.04363	0.0120	N	0.02539	-0.55	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.01281	0.0;0.0	T	0.17592	-1.0364	10	0.11182	T	0.66	-3.4821	2.1479	0.03791	0.1517:0.0857:0.3141:0.4484	.	98;50	Q8N5J2-3;Q8N5J2	.;FA63A_HUMAN	Q	50;98	ENSP00000354814:R50Q;ENSP00000354669:R98Q	ENSP00000354669:R98Q	R	-	2	0	FAM63A	149241569	0.000000	0.05858	0.002000	0.10522	0.021000	0.10359	-0.312000	0.08113	0.066000	0.16515	-0.290000	0.09829	CGG		0.592	FAM63A-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411753.1	NM_018379		51	56	0	0	0	1	0	51	56				
C4orf46	201725	broad.mit.edu	37	4	159592815	159592815	+	Missense_Mutation	SNP	C	C	A			TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr4:159592815C>A	ENST00000379205.4	-	1	383	c.139G>T	c.(139-141)Ggc>Tgc	p.G47C	ETFDH_ENST00000511912.1_5'Flank|C4orf46_ENST00000508457.1_Missense_Mutation_p.G47C|C4orf46_ENST00000508836.1_Intron|ETFDH_ENST00000307738.5_5'Flank	NM_001008393.2	NP_001008394.1	Q504U0	CD046_HUMAN	chromosome 4 open reading frame 46	47										kidney(1)|lung(3)|skin(1)	5						ACCGTTGGGCCGCTGCTCCTG	0.687																																						ENST00000379205.4																			0				kidney(1)|lung(3)|skin(1)	5						c.(139-141)Ggc>Tgc		chromosome 4 open reading frame 46							33.0	28.0	30.0					4																	159592815		2203	4300	6503	SO:0001583	missense	201725							g.chr4:159592815C>A		CCDS34088.1	4q32.1	2014-07-30			ENSG00000205208	ENSG00000205208			27320	protein-coding gene	gene with protein product	"""renal cancer differentiation gene 1"""						Standard	NM_001008393		Approved	LOC201725, RCDG1	uc003iqa.3	Q504U0	OTTHUMG00000161919	ENST00000379205.4:c.139G>T	4.37:g.159592815C>A	ENSP00000368503:p.Gly47Cys					C4orf46_ENST00000508836.1_Intron|C4orf46_ENST00000508457.1_Missense_Mutation_p.G47C	p.G47C	NM_001008393.2	NP_001008394.1	Q504U0	CD046_HUMAN			1	383	-			47					B3KNH7	Missense_Mutation	SNP	ENST00000379205.4	37	c.139G>T	CCDS34088.1	.	.	.	.	.	.	.	.	.	.	C	12.24	1.878874	0.33162	.	.	ENSG00000205208	ENST00000379205;ENST00000508457	.	.	.	3.93	-1.51	0.08664	.	0.868550	0.09821	N	0.751457	T	0.18593	0.0446	N	0.19112	0.55	0.09310	N	1	B	0.12630	0.006	B	0.13407	0.009	T	0.27806	-1.0063	9	0.72032	D	0.01	.	0.9501	0.01374	0.1623:0.2693:0.159:0.4093	.	47	Q504U0	CD046_HUMAN	C	47	.	ENSP00000368503:G47C	G	-	1	0	C4orf46	159812265	0.000000	0.05858	0.000000	0.03702	0.068000	0.16541	-0.756000	0.04777	-0.156000	0.11079	0.563000	0.77884	GGC		0.687	C4orf46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366378.1	NM_001008393		3	22	1	0	1	1	1	3	22				
CSNK2A3	283106	broad.mit.edu	37	11	11373726	11373726	+	Missense_Mutation	SNP	G	G	A			TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr11:11373726G>A	ENST00000528848.2	-	1	1178	c.941C>T	c.(940-942)aCt>aTt	p.T314I	GALNT18_ENST00000227756.4_Intron|RP11-567I13.1_ENST00000526867.1_RNA	NM_001256686.1	NP_001243615.1	Q8NEV1	CSK23_HUMAN	casein kinase 2, alpha 3 polypeptide	314	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|protein phosphatase regulator activity (GO:0019888)|protein serine/threonine kinase activity (GO:0004674)										CTCTCTTGCAGTAAGCCGTGA	0.547																																						ENST00000528848.2																			0											c.(940-942)aCt>aTt		casein kinase 2, alpha 3 polypeptide																																				SO:0001583	missense	283106							g.chr11:11373726G>A	X64692	CCDS59224.1	11p15.3	2013-01-18	2013-01-17	2013-01-17	ENSG00000254598	ENSG00000254598			2458	protein-coding gene	gene with protein product			"""casein kinase 2, alpha 1 polypeptide pseudogene"""	CSNK2A1P		12102635, 1610905, 20625391	Standard	NM_001256686		Approved		uc001mjp.4	Q8NEV1	OTTHUMG00000165708	ENST00000528848.2:c.941C>T	11.37:g.11373726G>A	ENSP00000473553:p.Thr314Ile					GALNT18_ENST00000227756.4_Intron	p.T314I	NM_001256686.1	NP_001243615.1					1	1178	-									Missense_Mutation	SNP	ENST00000528848.2	37	c.941C>T	CCDS59224.1																																																																																				0.547	CSNK2A3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385850.3	NM_001256686		4	77	0	0	0	1	0	4	77				
POLR2E	5434	broad.mit.edu	37	19	1089510	1089510	+	Missense_Mutation	SNP	T	T	C			TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr19:1089510T>C	ENST00000215587.7	-	7	891	c.608A>G	c.(607-609)tAc>tGc	p.Y203C	POLR2E_ENST00000586746.1_Missense_Mutation_p.Y203C|POLR2E_ENST00000585838.1_5'UTR			P19388	RPAB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide E, 25kDa	203					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase II, core complex (GO:0005665)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|skin(2)	11		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTAGGTGATGTACCTGCCAGC	0.637																																						ENST00000215587.7																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|skin(2)	11						c.(607-609)tAc>tGc		polymerase (RNA) II (DNA directed) polypeptide E, 25kDa							79.0	61.0	67.0					19																	1089510		2203	4299	6502	SO:0001583	missense	5434				interspecies interaction between organisms|mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity	g.chr19:1089510T>C		CCDS12056.1	19p13.3	2013-01-21	2002-08-29			ENSG00000099817		"""RNA polymerase subunits"""	9192	protein-coding gene	gene with protein product	"""DNA directed RNA polymerase II 23 kda polypeptide"""	180664	"""polymerase (RNA) II (DNA directed) polypeptide E (25kD)"""			8034326	Standard	NM_002695		Approved	RPB5, RPABC1, XAP4, hRPB25, hsRPB5	uc002lre.4	P19388		ENST00000215587.7:c.608A>G	19.37:g.1089510T>C	ENSP00000215587:p.Tyr203Cys					POLR2E_ENST00000585838.1_5'UTR|POLR2E_ENST00000586746.1_Missense_Mutation_p.Y203C	p.Y203C			P19388	RPAB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	891	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	203					B2R6L4|D6W5Y1|O43380|Q6PIH5|Q9BT06	Missense_Mutation	SNP	ENST00000215587.7	37	c.608A>G	CCDS12056.1	.	.	.	.	.	.	.	.	.	.	T	18.90	3.720751	0.68959	.	.	ENSG00000099817	ENST00000215587	T	0.53857	0.6	3.76	3.76	0.43208	RNA polymerase, subunit H/Rpb5 C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.82508	0.5052	H	0.99090	4.425	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87772	0.2606	10	0.87932	D	0	7.1917	11.3665	0.49675	0.0:0.0:0.0:1.0	.	203	P19388	RPAB1_HUMAN	C	203	ENSP00000215587:Y203C	ENSP00000215587:Y203C	Y	-	2	0	POLR2E	1040510	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	7.499000	0.81566	1.371000	0.46172	0.397000	0.26171	TAC		0.637	POLR2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458044.1	NM_002695		16	26	0	0	0	1	0	16	26				
PLCXD2	257068	broad.mit.edu	37	3	111564682	111564682	+	3'UTR	SNP	C	C	A			TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr3:111564682C>A	ENST00000477665.1	+	0	1290				PLCXD2_ENST00000393934.3_Missense_Mutation_p.P294Q|PHLDB2_ENST00000393923.3_5'UTR	NM_001185106.1	NP_001172035.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2						lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						GCACTGATCCCAGTTTATCCT	0.463																																						ENST00000393934.3																			0				endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						c.(880-882)cCa>cAa		phosphatidylinositol-specific phospholipase C, X domain containing 2							185.0	168.0	174.0					3																	111564682		2203	4300	6503	SO:0001624	3_prime_UTR_variant	257068				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	g.chr3:111564682C>A	AK056141	CCDS2961.1, CCDS54619.1	3q13.2	2004-09-09			ENSG00000240891	ENSG00000240891			26462	protein-coding gene	gene with protein product							Standard	NM_001185106		Approved	FLJ31579	uc003dxz.3	Q0VAA5	OTTHUMG00000159279	ENST00000477665.1:c.*48C>A	3.37:g.111564682C>A						PLCXD2_ENST00000477665.1_3'UTR|PHLDB2_ENST00000393923.3_5'UTR	p.P294Q	NM_153268.3	NP_695000.1	Q0VAA5	PLCX2_HUMAN			4	1451	+			0					Q96N12	Missense_Mutation	SNP	ENST00000477665.1	37	c.881C>A	CCDS54619.1	.	.	.	.	.	.	.	.	.	.	C	4.000	-0.002776	0.07819	.	.	ENSG00000240891	ENST00000393934	.	.	.	4.25	3.38	0.38709	.	.	.	.	.	T	0.38214	0.1032	.	.	.	0.38536	D	0.949097	B	0.31859	0.343	B	0.28709	0.093	T	0.35201	-0.9798	7	0.39692	T	0.17	.	8.1689	0.31243	0.0:0.8924:0.0:0.1076	.	294	Q0VAA5-2	.	Q	294	.	ENSP00000377511:P294Q	P	+	2	0	PLCXD2	113047372	0.001000	0.12720	0.417000	0.26559	0.031000	0.12232	0.534000	0.23098	1.395000	0.46643	0.561000	0.74099	CCA		0.463	PLCXD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354322.1	NM_153268		48	68	1	0	1.11015e-26	1	1.21588e-26	48	68				
SPOP	8405	broad.mit.edu	37	17	47696644	47696644	+	Missense_Mutation	SNP	A	A	C			TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr17:47696644A>C	ENST00000393328.2	-	5	669	c.304T>G	c.(304-306)Ttc>Gtc	p.F102V	SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000503676.1_Missense_Mutation_p.F102V|SPOP_ENST00000393331.3_Missense_Mutation_p.F102V|SPOP_ENST00000347630.2_Missense_Mutation_p.F102V|SPOP_ENST00000504102.1_Missense_Mutation_p.F102V	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	102	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						GAGAATTTGAATTTTGCCCGA	0.408										Prostate(2;0.17)																												ENST00000393331.3																			0				endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(304-306)Ttc>Gtc		speckle-type POZ protein							147.0	136.0	140.0					17																	47696644		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696644A>C	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.304T>G	17.37:g.47696644A>C	ENSP00000377001:p.Phe102Val	Prostate(2;0.17)				SPOP_ENST00000504102.1_Missense_Mutation_p.F102V|SPOP_ENST00000503676.1_Missense_Mutation_p.F102V|SPOP_ENST00000393328.2_Missense_Mutation_p.F102V|SPOP_ENST00000347630.2_Missense_Mutation_p.F102V	p.F102V	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			6	774	-			102			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.304T>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.465429	0.84425	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121;ENST00000515508	T;T;T;T;T;T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23	5.52	5.52	0.82312	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.77046	0.4073	L	0.48986	1.54	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.75869	-0.3165	10	0.39692	T	0.17	-11.8278	15.4649	0.75390	1.0:0.0:0.0:0.0	.	102	O43791	SPOP_HUMAN	V	102;102;102;102;102;55;102;102;102;102;102	ENSP00000377001:F102V;ENSP00000377004:F102V;ENSP00000240327:F102V;ENSP00000425905:F102V;ENSP00000420908:F102V;ENSP00000426986:F102V;ENSP00000420960:F102V;ENSP00000426262:F102V;ENSP00000424119:F102V;ENSP00000426537:F102V	ENSP00000240327:F102V	F	-	1	0	SPOP	45051643	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.135000	0.94478	2.317000	0.78254	0.460000	0.39030	TTC		0.408	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		40	66	0	0	0	1	0	40	66				
KLF7	8609	broad.mit.edu	37	2	207988820	207988820	+	Silent	SNP	C	C	T			TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr2:207988820C>T	ENST00000309446.6	-	2	787	c.411G>A	c.(409-411)acG>acA	p.T137T	KLF7_ENST00000458272.1_Intron|KLF7_ENST00000412414.2_Silent_p.T109T|KLF7_ENST00000467833.1_Intron|KLF7_ENST00000421199.1_Silent_p.T104T|KLF7-IT1_ENST00000428777.1_RNA|KLF7_ENST00000423015.1_Silent_p.T137T	NM_003709.3	NP_003700.1	O75840	KLF7_HUMAN	Kruppel-like factor 7 (ubiquitous)	137					axon guidance (GO:0007411)|dendrite morphogenesis (GO:0048813)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|large_intestine(3)|liver(1)|lung(4)|skin(1)	11				LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173)		ACGATGGGGGCGTTAATGAGG	0.587																																						ENST00000309446.6																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|liver(1)|lung(4)|skin(1)	11						c.(409-411)acG>acA		Kruppel-like factor 7 (ubiquitous)							74.0	72.0	73.0					2																	207988820		2203	4300	6503	SO:0001819	synonymous_variant	8609				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding	g.chr2:207988820C>T	AB015132	CCDS2373.1, CCDS59438.1, CCDS59439.1, CCDS59440.1	2q32	2013-01-08			ENSG00000118263	ENSG00000118263		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6350	protein-coding gene	gene with protein product		604865				9774444	Standard	NM_003709		Approved	UKLF	uc010zix.2	O75840	OTTHUMG00000132935	ENST00000309446.6:c.411G>A	2.37:g.207988820C>T						KLF7_ENST00000467833.1_Intron|KLF7_ENST00000458272.1_Intron|KLF7_ENST00000421199.1_Silent_p.T104T|KLF7_ENST00000412414.2_Silent_p.T109T|KLF7_ENST00000423015.1_Silent_p.T137T	p.T137T	NM_003709.3	NP_003700.1	O75840	KLF7_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173)	2	787	-			137					B2RB03|B7Z4F7|C9JF04|E7EWH1|L0R4P2|Q7Z3H8|Q96E51	Silent	SNP	ENST00000309446.6	37	c.411G>A	CCDS2373.1																																																																																				0.587	KLF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256466.2	NM_003709		19	35	0	0	0	1	0	19	35				
KRTAP10-5	386680	broad.mit.edu	37	21	46000248	46000248	+	Missense_Mutation	SNP	T	T	A			TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr21:46000248T>A	ENST00000400372.1	-	1	233	c.208A>T	c.(208-210)Acg>Tcg	p.T70S	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	70	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						cacgagggcgtgcaggAGCTG	0.706																																						ENST00000400372.1																			0				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(208-210)Acg>Tcg		keratin associated protein 10-5							43.0	46.0	45.0					21																	46000248		2197	4295	6492	SO:0001583	missense	386680					keratin filament		g.chr21:46000248T>A	AJ566384	CCDS42958.1	21q22.3	2007-10-05			ENSG00000241123	ENSG00000241123		"""Keratin associated proteins"""	22969	protein-coding gene	gene with protein product				KRTAP18-5			Standard	NM_198694		Approved	KAP10.5, KAP18.5	uc002zfl.1	P60370	OTTHUMG00000057638	ENST00000400372.1:c.208A>T	21.37:g.46000248T>A	ENSP00000383223:p.Thr70Ser					TSPEAR_ENST00000323084.4_Intron	p.T70S	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN			1	233	-			70			22 X 5 AA repeats of C-C-X(3).		Q0VAR7|Q0VAR8|Q70LJ3	Missense_Mutation	SNP	ENST00000400372.1	37	c.208A>T	CCDS42958.1	.	.	.	.	.	.	.	.	.	.	t	0.509	-0.867272	0.02590	.	.	ENSG00000241123	ENST00000400372	T	0.00675	5.88	2.28	1.13	0.20643	.	.	.	.	.	T	0.01029	0.0034	M	0.77103	2.36	0.09310	N	1	B	0.29508	0.246	B	0.22601	0.04	T	0.44817	-0.9303	9	0.20519	T	0.43	.	3.482	0.07606	0.0:0.2115:0.0:0.7885	.	70	P60370	KR105_HUMAN	S	70	ENSP00000383223:T70S	ENSP00000383223:T70S	T	-	1	0	KRTAP10-5	44824676	0.041000	0.20044	0.286000	0.24833	0.002000	0.02628	-0.139000	0.10358	1.042000	0.40150	0.369000	0.22263	ACG		0.706	KRTAP10-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128042.1			45	40	0	0	0	1	0	45	40				
CT47B1	643311	broad.mit.edu	37	X	120007806	120007806	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chrX:120007806C>A	ENST00000371311.3	-	2	1098	c.844G>T	c.(844-846)Gaa>Taa	p.E282*		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	282										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						TTTTCTTGTTCTTTCTCTTCC	0.458																																						ENST00000371311.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						c.(844-846)Gaa>Taa		cancer/testis antigen family 47, member B1																																				SO:0001587	stop_gained	643311							g.chrX:120007806C>A		CCDS48161.1	Xq24	2014-05-06	2011-03-24		ENSG00000236446	ENSG00000236446			33293	protein-coding gene	gene with protein product	"""cancer/testis CT47 family, member 13"""	300790				16382448	Standard	NM_001145718		Approved	CT47.13	uc011muc.2	P0C2W7	OTTHUMG00000187483	ENST00000371311.3:c.844G>T	X.37:g.120007806C>A	ENSP00000360360:p.Glu282*						p.E282*	NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN			2	1098	-			282					A6NM97	Nonsense_Mutation	SNP	ENST00000371311.3	37	c.844G>T	CCDS48161.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.435478	0.62955	.	.	ENSG00000236446	ENST00000371311	.	.	.	1.38	1.38	0.22167	.	0.758300	0.10746	U	0.638831	.	.	.	.	.	.	0.33993	A	0.649387	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	5.7776	0.18287	0.0:1.0:0.0:0.0	.	.	.	.	X	282	.	ENSP00000360360:E282X	E	-	1	0	CT47B1	119891834	0.008000	0.16893	0.034000	0.17996	0.041000	0.13682	0.487000	0.22356	1.000000	0.39049	0.279000	0.19357	GAA		0.458	CT47B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058121.1	NM_001145718		321	30	1	0	6.69537e-141	1	7.69967e-141	321	30				
ARID2	196528	broad.mit.edu	37	12	46230731	46230731	+	Missense_Mutation	SNP	T	T	C			TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr12:46230731T>C	ENST00000334344.6	+	8	1152	c.980T>C	c.(979-981)tTa>tCa	p.L327S	ARID2_ENST00000444670.1_5'Flank|ARID2_ENST00000422737.1_Missense_Mutation_p.L178S|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	327					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TTTATTTCTTTAAGGCAATTA	0.363			"""N, S, F"""		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"""N, S, F"""	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(979-981)tTa>tCa		AT rich interactive domain 2 (ARID, RFX-like)							140.0	134.0	136.0					12																	46230731		2203	4300	6503	SO:0001583	missense	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46230731T>C		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.980T>C	12.37:g.46230731T>C	ENSP00000335044:p.Leu327Ser					ARID2_ENST00000422737.1_Missense_Mutation_p.L178S|ARID2_ENST00000479608.1_3'UTR	p.L327S	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	8	1152	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	327					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	c.980T>C	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.393129	0.83011	.	.	ENSG00000189079	ENST00000334344;ENST00000422737	T;T	0.53857	0.6;0.6	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000001	T	0.72391	0.3454	M	0.72894	2.215	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.75534	-0.3284	10	0.87932	D	0	-10.5499	16.2628	0.82557	0.0:0.0:0.0:1.0	.	327	Q68CP9	ARID2_HUMAN	S	327;178	ENSP00000335044:L327S;ENSP00000415650:L178S	ENSP00000335044:L327S	L	+	2	0	ARID2	44516998	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.004000	0.88535	2.233000	0.73108	0.482000	0.46254	TTA		0.363	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		26	53	0	0	0	1	0	26	53				
PAPPA2	60676	broad.mit.edu	37	1	176564577	176564577	+	Missense_Mutation	SNP	C	C	T			TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr1:176564577C>T	ENST00000367662.3	+	3	3001	c.1837C>T	c.(1837-1839)Cgc>Tgc	p.R613C	PAPPA2_ENST00000367661.3_Missense_Mutation_p.R613C	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	613	Metalloprotease.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGGTGACTGCCGCCTGCAGGG	0.587																																						ENST00000367662.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(1837-1839)Cgc>Tgc		pappalysin 2							69.0	75.0	73.0					1																	176564577		2099	4223	6322	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176564577C>T	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.1837C>T	1.37:g.176564577C>T	ENSP00000356634:p.Arg613Cys					PAPPA2_ENST00000367661.3_Missense_Mutation_p.R613C	p.R613C	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			3	3001	+			613			Metalloprotease.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.1837C>T	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	C	19.38	3.816244	0.70912	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	D;D	0.91521	-2.86;-2.86	5.42	4.45	0.53987	Notch domain (2);	0.362810	0.29660	N	0.011526	D	0.91878	0.7429	L	0.34521	1.04	0.51767	D	0.99993	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.98	D	0.92430	0.5953	10	0.72032	D	0.01	-23.4467	13.9743	0.64262	0.0:0.7226:0.2774:0.0	.	613;613	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	C	613	ENSP00000356634:R613C;ENSP00000356633:R613C	ENSP00000356633:R613C	R	+	1	0	PAPPA2	174831200	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.005000	0.49521	2.542000	0.85734	0.650000	0.86243	CGC		0.587	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			27	30	0	0	0	1	0	27	30				
CATIP	375307	broad.mit.edu	37	2	219232553	219232553	+	Missense_Mutation	SNP	G	G	C			TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr2:219232553G>C	ENST00000289388.3	+	10	1059	c.1030G>C	c.(1030-1032)Gtc>Ctc	p.V344L	AC021016.6_ENST00000441749.1_RNA|C2orf62_ENST00000481940.1_3'UTR	NM_198559.1	NP_940961.1	Q7Z7H3	CATIP_HUMAN		344					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGAGGACGTGGTCACCTTCGC	0.701																																						ENST00000289388.3																			0				endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1030-1032)Gtc>Ctc		chromosome 2 open reading frame 62							30.0	32.0	31.0					2																	219232553		2199	4296	6495	SO:0001583	missense	375307							g.chr2:219232553G>C																												ENST00000289388.3:c.1030G>C	2.37:g.219232553G>C	ENSP00000289388:p.Val344Leu					AC021016.6_ENST00000441749.1_RNA|C2orf62_ENST00000481940.1_3'UTR	p.V344L	NM_198559.1	NP_940961.1	Q7Z7H3	CB062_HUMAN		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	10	1059	+		Renal(207;0.0915)	344						Missense_Mutation	SNP	ENST00000289388.3	37	c.1030G>C	CCDS2414.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.256811	0.59321	.	.	ENSG00000158428	ENST00000289388	.	.	.	4.61	2.79	0.32731	.	0.272984	0.34932	N	0.003571	T	0.29945	0.0749	L	0.35593	1.075	0.30989	N	0.721613	P	0.40180	0.705	B	0.38264	0.269	T	0.24512	-1.0158	9	0.48119	T	0.1	-0.0184	8.995	0.36048	0.254:0.0:0.746:0.0	.	344	Q7Z7H3	CB062_HUMAN	L	344	.	ENSP00000289388:V344L	V	+	1	0	C2orf62	218940797	0.994000	0.37717	1.000000	0.80357	0.847000	0.48162	0.485000	0.22324	0.370000	0.24538	0.561000	0.74099	GTC		0.701	C2orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256771.1			7	25	0	0	0	1	0	7	25				
RPL12	6136	broad.mit.edu	37	9	130210646	130210646	+	Missense_Mutation	SNP	G	G	A	rs184123213	byFrequency	TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr9:130210646G>A	ENST00000361436.5	-	5	436	c.349C>T	c.(349-351)Cgg>Tgg	p.R117W	RPL12_ENST00000497322.1_5'UTR|RPL12_ENST00000536368.1_Missense_Mutation_p.R84W|SNORA65_ENST00000364432.1_RNA	NM_000976.3	NP_000967.1	P30050	RL12_HUMAN	ribosomal protein L12	117					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)	4						GATCGGTGCCGCATCTGTCGA	0.423													G|||	2	0.000399361	0.0	0.0	5008	,	,		21033	0.001		0.0	False		,,,				2504	0.001					ENST00000361436.5																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.(349-351)Cgg>Tgg		ribosomal protein L12							196.0	186.0	189.0					9																	130210646		2203	4300	6503	SO:0001583	missense	6136				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome	g.chr9:130210646G>A		CCDS6872.1	9q34	2011-04-06			ENSG00000197958	ENSG00000197958		"""L ribosomal proteins"""	10302	protein-coding gene	gene with protein product		180475				8441690	Standard	NM_000976		Approved	L12	uc004bqy.2	P30050	OTTHUMG00000020704	ENST00000361436.5:c.349C>T	9.37:g.130210646G>A	ENSP00000354739:p.Arg117Trp					RPL12_ENST00000497322.1_5'UTR|RPL12_ENST00000536368.1_Missense_Mutation_p.R84W	p.R117W	NM_000976.3	NP_000967.1	P30050	RL12_HUMAN			5	436	-			117					Q5VVV2|Q6PB27	Missense_Mutation	SNP	ENST00000361436.5	37	c.349C>T	CCDS6872.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	15.77	2.930198	0.52866	.	.	ENSG00000197958	ENST00000361436;ENST00000536368	T;T	0.46451	0.87;0.87	5.12	-1.53	0.08611	Ribosomal protein L11, C-terminal (3);	0.000000	0.85682	U	0.000000	T	0.46328	0.1387	M	0.86864	2.845	0.53005	D	0.999962	B;B	0.30727	0.002;0.292	B;B	0.28709	0.001;0.093	T	0.59752	-0.7395	10	0.59425	D	0.04	-0.0031	15.1129	0.72372	0.0:0.0:0.2065:0.7935	.	84;117	P30050-2;P30050	.;RL12_HUMAN	W	117;84	ENSP00000354739:R117W;ENSP00000441179:R84W	ENSP00000354739:R117W	R	-	1	2	RPL12	129250467	1.000000	0.71417	0.962000	0.40283	0.987000	0.75469	0.844000	0.27654	-0.034000	0.13713	0.655000	0.94253	CGG		0.423	RPL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054189.1			5	238	0	0	0	1	0	5	238				
PDGFB	5155	broad.mit.edu	37	22	39627771	39627771	+	Silent	SNP	G	G	A			TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr22:39627771G>A	ENST00000331163.6	-	4	1099	c.312C>T	c.(310-312)ttC>ttT	p.F104F	PDGFB_ENST00000381551.4_Silent_p.F89F	NM_002608.2	NP_002599.1	P01127	PDGFB_HUMAN	platelet-derived growth factor beta polypeptide	104					actin cytoskeleton organization (GO:0030036)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|branching involved in salivary gland morphogenesis (GO:0060445)|cell chemotaxis (GO:0060326)|cell growth (GO:0016049)|cell projection assembly (GO:0030031)|cellular response to growth factor stimulus (GO:0071363)|cellular response to mycophenolic acid (GO:0071506)|DNA replication (GO:0006260)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|extracellular matrix organization (GO:0030198)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|metanephric glomerular endothelium development (GO:0072264)|metanephric glomerular mesangial cell development (GO:0072255)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|monocyte chemotaxis (GO:0002548)|negative regulation of cell migration (GO:0030336)|negative regulation of phosphatidylinositol biosynthetic process (GO:0010512)|negative regulation of platelet activation (GO:0010544)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|paracrine signaling (GO:0038001)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of DNA replication (GO:0045740)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of glomerular mesangial cell proliferation (GO:0072126)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of metanephric mesenchymal cell migration (GO:2000591)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to wounding (GO:0009611)|substrate-dependent cell migration (GO:0006929)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)|collagen binding (GO:0005518)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|superoxide-generating NADPH oxidase activator activity (GO:0016176)		COL1A1/PDGFB(429)	central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Melanoma(58;0.04)					GGGAGATCTCGAACACCTCGG	0.647			T	COL1A1	DFSP																																	ENST00000331163.6				Dom	yes		22	22q12.3-q13.1	5155	T	platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog)			M	COL1A1		DFSP	COL1A1/PDGFB(429)	0				central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)	7						c.(310-312)ttC>ttT		platelet-derived growth factor beta polypeptide	Becaplermin(DB00102)						55.0	45.0	48.0					22																	39627771		2203	4300	6503	SO:0001819	synonymous_variant	5155				activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway	basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|Golgi membrane|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity	g.chr22:39627771G>A		CCDS13987.1, CCDS33650.1	22q13.1	2012-10-02	2011-05-19		ENSG00000100311	ENSG00000100311			8800	protein-coding gene	gene with protein product	"""oncogene SIS"", ""becaplermin"""	190040	"""platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog)"""	SIS		2991848, 1661670	Standard	NM_002608		Approved	SSV	uc003axf.3	P01127	OTTHUMG00000151029	ENST00000331163.6:c.312C>T	22.37:g.39627771G>A						PDGFB_ENST00000381551.4_Silent_p.F89F	p.F104F	NM_002608.2	NP_002599.1	P01127	PDGFB_HUMAN			4	1099	-	Melanoma(58;0.04)		104					G3XAG8|P78431|Q15354|Q6FHE7|Q9UF23	Silent	SNP	ENST00000331163.6	37	c.312C>T	CCDS13987.1																																																																																				0.647	PDGFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321043.1	NM_002608		14	8	0	0	0	1	0	14	8				
PRDM14	63978	broad.mit.edu	37	8	70981644	70981644	+	Missense_Mutation	SNP	G	G	A			TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr8:70981644G>A	ENST00000276594.2	-	2	653	c.452C>T	c.(451-453)cCa>cTa	p.P151L		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	151					cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			AGGGGGCGGTGGAATTAAAGT	0.577																																					NSCLC(129;99 1813 5906 40656 46114)	ENST00000276594.2																			0				NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(451-453)cCa>cTa		PR domain containing 14							62.0	59.0	60.0					8																	70981644		2203	4300	6503	SO:0001583	missense	63978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:70981644G>A	AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"""Zinc fingers, C2H2-type"""	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.452C>T	8.37:g.70981644G>A	ENSP00000276594:p.Pro151Leu						p.P151L	NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)		2	653	-	Breast(64;0.193)		151					Q86UX9	Missense_Mutation	SNP	ENST00000276594.2	37	c.452C>T	CCDS6206.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.239256	0.22711	.	.	ENSG00000147596	ENST00000276594	T	0.10668	2.85	5.26	0.602	0.17535	.	0.855289	0.10576	N	0.658594	T	0.04227	0.0117	N	0.12746	0.255	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.44467	-0.9326	10	0.02654	T	1	-0.4164	4.3816	0.11297	0.2047:0.0:0.5114:0.2838	.	151	Q9GZV8	PRD14_HUMAN	L	151	ENSP00000276594:P151L	ENSP00000276594:P151L	P	-	2	0	PRDM14	71144198	0.317000	0.24589	0.001000	0.08648	0.341000	0.28922	0.432000	0.21461	-0.076000	0.12775	0.655000	0.94253	CCA		0.577	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318505.1			46	32	0	0	0	1	0	46	32				
ASXL3	80816	broad.mit.edu	37	18	31323309	31323309	+	Missense_Mutation	SNP	G	G	A			TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr18:31323309G>A	ENST00000269197.5	+	12	3497	c.3497G>A	c.(3496-3498)aGa>aAa	p.R1166K		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1166					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CCAAACTGTAGATCTCCTAGC	0.463																																						ENST00000269197.5																			0				breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						c.(3496-3498)aGa>aAa		additional sex combs like 3 (Drosophila)							47.0	46.0	46.0					18																	31323309		1922	4133	6055	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31323309G>A	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.3497G>A	18.37:g.31323309G>A	ENSP00000269197:p.Arg1166Lys						p.R1166K	NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN			12	3497	+			1166					Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.3497G>A	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.541365	0.45280	.	.	ENSG00000141431	ENST00000269197	T	0.49139	0.79	5.91	5.91	0.95273	.	1.626760	0.03093	N	0.160091	T	0.36663	0.0975	N	0.16478	0.41	0.30858	N	0.73385	B	0.32071	0.355	B	0.24974	0.057	T	0.15925	-1.0420	10	0.23302	T	0.38	.	13.4901	0.61390	0.0711:0.0:0.9289:0.0	.	1166	Q9C0F0	ASXL3_HUMAN	K	1166	ENSP00000269197:R1166K	ENSP00000269197:R1166K	R	+	2	0	ASXL3	29577307	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.489000	0.66875	2.802000	0.96397	0.655000	0.94253	AGA		0.463	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			18	24	0	0	0	1	0	18	24				
DPY19L2P1	554236	broad.mit.edu	37	7	35131480	35131480	+	RNA	SNP	A	A	T			TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr7:35131480A>T	ENST00000436258.1	-	0	1889							Q6NXN4	D19P1_HUMAN	DPY19L2 pseudogene 1							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										ATCTTCGTAAAGTGGATGATT	0.423																																						ENST00000436258.1																			0																																																			0							g.chr7:35131480A>T	BC066987		7p14.2	2014-03-18	2013-09-12		ENSG00000189212	ENSG00000189212			22305	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 1 (C. elegans)"""				Standard	NR_002833		Approved		uc031swy.1	Q6NXN4	OTTHUMG00000155026		7.37:g.35131480A>T														0	1889	-								B4E2E3	RNA	SNP	ENST00000436258.1	37																																																																																						0.423	DPY19L2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000338113.1			4	52	0	0	0	1	0	4	52				
MYH7	4625	broad.mit.edu	37	14	23887583	23887583	+	Silent	SNP	C	C	T	rs144465613	byFrequency	TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr14:23887583C>T	ENST00000355349.3	-	30	4167	c.4005G>A	c.(4003-4005)tcG>tcA	p.S1335S	MIR208B_ENST00000401172.1_RNA|CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1335					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.S1335S(3)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CATGCCGGGCCGACTGCAGTG	0.662													C|||	3	0.000599042	0.0023	0.0	5008	,	,		18907	0.0		0.0	False		,,,				2504	0.0					ENST00000355349.3																			3	Substitution - coding silent(3)	p.S1335S(3)	central_nervous_system(2)|lung(1)	NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(4003-4005)tcG>tcA		myosin, heavy chain 7, cardiac muscle, beta		C		9,4397	15.5+/-35.6	0,9,2194	35.0	34.0	34.0		4005	-9.9	0.2	14	dbSNP_134	34	0,8600		0,0,4300	no	coding-synonymous	MYH7	NM_000257.2		0,9,6494	TT,TC,CC		0.0,0.2043,0.0692		1335/1936	23887583	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23887583C>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4005G>A	14.37:g.23887583C>T							p.S1335S	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	30	4167	-	all_cancers(95;2.54e-05)		1335					A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	c.4005G>A	CCDS9601.1																																																																																				0.662	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		5	56	0	0	0	1	0	5	56				
MMP26	56547	broad.mit.edu	37	11	5010966	5010966	+	Missense_Mutation	SNP	G	G	A	rs368459718		TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr11:5010966G>A	ENST00000380390.1	+	3	404	c.188G>A	c.(187-189)cGg>cAg	p.R63Q	MMP26_ENST00000300762.1_Missense_Mutation_p.R63Q|MMP26_ENST00000477339.1_3'UTR			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	63					collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R63P(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	Marimastat(DB00786)	CAATTCCATCGGAATGGGACA	0.527																																						ENST00000380390.1																			1	Substitution - Missense(1)	p.R63P(1)	pancreas(1)	breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22						c.(187-189)cGg>cAg		matrix metallopeptidase 26		G	GLN/ARG	0,4402		0,0,2201	79.0	63.0	68.0		188	-2.2	0.0	11		68	1,8595	1.2+/-3.3	0,1,4297	no	missense	MMP26	NM_021801.3	43	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	benign	63/262	5010966	1,12997	2201	4298	6499	SO:0001583	missense	56547				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:5010966G>A	AF230354	CCDS7752.1	11p15	2008-07-18	2005-08-08		ENSG00000167346	ENSG00000167346	3.4.24.1		14249	protein-coding gene	gene with protein product	"""matrilysin 2"""	605470	"""matrix metalloproteinase 26"""			10801841, 10824119	Standard	NM_021801		Approved	endometase, MGC126590, MGC126592	uc001lzv.3	Q9NRE1	OTTHUMG00000066442	ENST00000380390.1:c.188G>A	11.37:g.5010966G>A	ENSP00000369753:p.Arg63Gln					MMP26_ENST00000477339.1_3'UTR|MMP26_ENST00000300762.1_Missense_Mutation_p.R63Q	p.R63Q			Q9NRE1	MMP26_HUMAN		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	3	404	+		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)	63					Q3MJ78|Q9GZS2|Q9NR87	Missense_Mutation	SNP	ENST00000380390.1	37	c.188G>A	CCDS7752.1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.468405	0.26335	0.0	1.16E-4	ENSG00000167346	ENST00000380390;ENST00000300762	T;T	0.39056	1.1;1.1	3.73	-2.23	0.06930	Metallopeptidase, catalytic domain (1);	2.363040	0.02553	N	0.095910	T	0.21145	0.0509	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12319	-1.0552	10	0.66056	D	0.02	0.698	0.8034	0.01079	0.2864:0.1017:0.208:0.4039	.	63	Q9NRE1	MMP26_HUMAN	Q	63	ENSP00000369753:R63Q;ENSP00000300762:R63Q	ENSP00000300762:R63Q	R	+	2	0	MMP26	4967542	0.009000	0.17119	0.000000	0.03702	0.045000	0.14185	0.991000	0.29654	-0.962000	0.03604	-1.283000	0.01379	CGG		0.527	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142058.3	NM_021801		14	11	0	0	0	1	0	14	11				
SLCO1C1	53919	broad.mit.edu	37	12	20864418	20864418	+	Missense_Mutation	SNP	A	A	G			TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr12:20864418A>G	ENST00000266509.2	+	5	871	c.503A>G	c.(502-504)gAa>gGa	p.E168G	SLCO1C1_ENST00000545604.1_Missense_Mutation_p.E168G|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.E50G|SLCO1C1_ENST00000381552.1_Missense_Mutation_p.E168G|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.E168G	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	168					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	TCAGTTATGGAAAAATCAAAA	0.343																																						ENST00000381552.1																			0				NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60						c.(502-504)gAa>gGa		solute carrier organic anion transporter family, member 1C1							103.0	104.0	104.0					12																	20864418		2203	4300	6503	SO:0001583	missense	53919				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr12:20864418A>G	AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.503A>G	12.37:g.20864418A>G	ENSP00000266509:p.Glu168Gly					SLCO1C1_ENST00000266509.2_Missense_Mutation_p.E168G|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.E50G|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.E168G|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.E168G	p.E168G			Q9NYB5	SO1C1_HUMAN			5	871	+	Esophageal squamous(101;0.149)		168					B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	ENST00000266509.2	37	c.503A>G	CCDS8683.1	.	.	.	.	.	.	.	.	.	.	A	9.615	1.132243	0.21041	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552;ENST00000545102	T;T;T;T;T	0.58210	1.09;0.35;1.09;1.09;1.09	4.41	0.759	0.18438	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.538042	0.19103	N	0.122655	T	0.35856	0.0946	L	0.38649	1.16	0.32176	N	0.580955	B;B;B;B	0.13145	0.007;0.0;0.007;0.0	B;B;B;B	0.16289	0.012;0.002;0.015;0.005	T	0.29852	-0.9998	10	0.22706	T	0.39	.	6.9896	0.24748	0.7234:0.0:0.2766:0.0	.	50;168;168;168	F5GZD6;B7Z3Q3;Q5JPA4;Q9NYB5	.;.;.;SO1C1_HUMAN	G	168;168;168;168;50	ENSP00000444149:E168G;ENSP00000438665:E168G;ENSP00000266509:E168G;ENSP00000370964:E168G;ENSP00000444527:E50G	ENSP00000266509:E168G	E	+	2	0	SLCO1C1	20755685	1.000000	0.71417	0.009000	0.14445	0.011000	0.07611	2.188000	0.42612	-0.024000	0.13941	-0.256000	0.11100	GAA		0.343	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435		52	39	0	0	0	1	0	52	39				
CCDC110	256309	broad.mit.edu	37	4	186380216	186380216	+	Nonsense_Mutation	SNP	T	T	A			TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr4:186380216T>A	ENST00000307588.3	-	6	1600	c.1525A>T	c.(1525-1527)Aaa>Taa	p.K509*	CCDC110_ENST00000510617.1_Nonsense_Mutation_p.K509*|CCDC110_ENST00000507501.1_5'Flank|CCDC110_ENST00000393540.3_Nonsense_Mutation_p.K472*	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	509						nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		attatttttttaaattCTTTA	0.279																																						ENST00000307588.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30						c.(1525-1527)Aaa>Taa		coiled-coil domain containing 110							22.0	22.0	22.0					4																	186380216		2139	4246	6385	SO:0001587	stop_gained	256309					nucleus		g.chr4:186380216T>A	AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"""cancer/testis antigen 52"""	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.1525A>T	4.37:g.186380216T>A	ENSP00000306776:p.Lys509*					CCDC110_ENST00000510617.1_Nonsense_Mutation_p.K509*|CCDC110_ENST00000393540.3_Nonsense_Mutation_p.K472*	p.K509*	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)	6	1600	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)	509					Q86YI9|Q8N7W0	Nonsense_Mutation	SNP	ENST00000307588.3	37	c.1525A>T	CCDS3843.1	.	.	.	.	.	.	.	.	.	.	T	16.34	3.096573	0.56075	.	.	ENSG00000168491	ENST00000393540;ENST00000307588;ENST00000510617	.	.	.	5.85	3.42	0.39159	.	0.342483	0.25717	N	0.028765	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.0255	6.2013	0.20577	0.1432:0.0758:0.0:0.781	.	.	.	.	X	472;509;509	.	ENSP00000306776:K509X	K	-	1	0	CCDC110	186617210	0.996000	0.38824	0.065000	0.19835	0.006000	0.05464	2.816000	0.48026	1.006000	0.39211	-0.336000	0.08194	AAA		0.279	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360519.2	NM_152775		21	31	0	0	0	1	0	21	31				
APBB1IP	54518	broad.mit.edu	37	10	26822387	26822387	+	Missense_Mutation	SNP	G	G	T			TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr10:26822387G>T	ENST00000376236.4	+	9	1288	c.833G>T	c.(832-834)aGa>aTa	p.R278I		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	278					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						TTGGATAACAGAGGAAAAAAA	0.348																																						ENST00000376236.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						c.(832-834)aGa>aTa		amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein							76.0	76.0	76.0					10																	26822387		2202	4300	6502	SO:0001583	missense	54518				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium		g.chr10:26822387G>T	AB085852	CCDS31167.1	10p12.1	2013-01-10			ENSG00000077420	ENSG00000077420		"""Pleckstrin homology (PH) domain containing"""	17379	protein-coding gene	gene with protein product	"""Rap1-GTP-interacting adaptor molecule"""	609036				9407065	Standard	NM_019043		Approved	INAG1, RIAM	uc001iss.3	Q7Z5R6	OTTHUMG00000017841	ENST00000376236.4:c.833G>T	10.37:g.26822387G>T	ENSP00000365411:p.Arg278Ile						p.R278I	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN			9	1288	+			278					Q8IWS8|Q8IYL7|Q8IZZ7	Missense_Mutation	SNP	ENST00000376236.4	37	c.833G>T	CCDS31167.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.303800	0.40795	.	.	ENSG00000077420	ENST00000445780;ENST00000376236	T	0.30714	1.52	5.63	0.723	0.18231	.	0.171961	0.64402	D	0.000007	T	0.11067	0.0270	N	0.08118	0	0.80722	D	1	B;P	0.39665	0.035;0.682	B;B	0.31547	0.065;0.132	T	0.12400	-1.0549	10	0.56958	D	0.05	.	5.1028	0.14768	0.5901:0.0:0.2866:0.1233	.	278;278	B4E100;Q7Z5R6	.;AB1IP_HUMAN	I	278	ENSP00000365411:R278I	ENSP00000365411:R278I	R	+	2	0	APBB1IP	26862393	1.000000	0.71417	0.994000	0.49952	0.904000	0.53231	0.909000	0.28558	-0.109000	0.12044	-0.312000	0.09012	AGA		0.348	APBB1IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047270.1	NM_019043		16	21	1	0	6.94344e-10	1	7.42787e-10	16	21				
TPTE	7179	broad.mit.edu	37	21	10951330	10951330	+	Missense_Mutation	SNP	A	A	C			TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr21:10951330A>C	ENST00000361285.4	-	10	711	c.382T>G	c.(382-384)Tct>Gct	p.S128A	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_Missense_Mutation_p.S110A|TPTE_ENST00000342420.5_Missense_Mutation_p.S90A	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	128					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		AGAGAAATAGAACGATACTCC	0.343																																						ENST00000298232.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(328-330)Tct>Gct		transmembrane phosphatase with tensin homology							97.0	105.0	102.0					21																	10951330		2203	4297	6500	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10951330A>C	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.382T>G	21.37:g.10951330A>C	ENSP00000355208:p.Ser128Ala					TPTE_ENST00000361285.4_Missense_Mutation_p.S128A|TPTE_ENST00000342420.5_Missense_Mutation_p.S90A|TPTE_ENST00000415664.2_5'UTR	p.S110A	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	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)	9	695	-			128					B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.328T>G	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	6.975	0.549820	0.13374	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420;ENST00000328758	D;D;D	0.97161	-4.27;-4.27;-4.27	1.8	0.502	0.16932	.	0.721150	0.12533	N	0.460643	D	0.92711	0.7683	L	0.40543	1.245	0.09310	N	0.999998	B;B;B	0.20261	0.002;0.012;0.043	B;B;B	0.25987	0.007;0.023;0.065	T	0.82870	-0.0243	10	0.18710	T	0.47	0.5313	4.7896	0.13241	0.6761:0.3239:0.0:0.0	.	90;110;128	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	A	110;128;90;110	ENSP00000298232:S110A;ENSP00000355208:S128A;ENSP00000344441:S90A	ENSP00000298232:S110A	S	-	1	0	TPTE	9973201	0.000000	0.05858	0.070000	0.20053	0.147000	0.21601	0.263000	0.18478	0.123000	0.18342	0.163000	0.16589	TCT		0.343	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			37	114	0	0	0	1	0	37	114				
CEP152	22995	broad.mit.edu	37	15	49048337	49048337	+	Missense_Mutation	SNP	T	T	G			TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr15:49048337T>G	ENST00000380950.2	-	20	3295	c.3108A>C	c.(3106-3108)caA>caC	p.Q1036H	CEP152_ENST00000399334.3_Missense_Mutation_p.Q1036H|CEP152_ENST00000325747.5_Missense_Mutation_p.Q943H	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1036					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		AGATTTCCAGTTGGATCCGCT	0.428																																						ENST00000380950.2																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63						c.(3106-3108)caA>caC		centrosomal protein 152kDa							148.0	136.0	139.0					15																	49048337		1914	4129	6043	SO:0001583	missense	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49048337T>G	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.3108A>C	15.37:g.49048337T>G	ENSP00000370337:p.Gln1036His					CEP152_ENST00000399334.3_Missense_Mutation_p.Q1036H|CEP152_ENST00000325747.5_Missense_Mutation_p.Q943H	p.Q1036H	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	20	3295	-		all_lung(180;0.0428)	1036					E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	37	c.3108A>C	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	T	17.71	3.456776	0.63401	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334	T;T;T	0.59502	0.26;0.32;0.32	5.49	-1.1	0.09872	.	0.302036	0.31784	N	0.007074	T	0.64875	0.2638	M	0.73598	2.24	0.21822	N	0.999529	D;D;D	0.64830	0.98;0.994;0.99	P;P;P	0.60473	0.735;0.875;0.824	T	0.56092	-0.8036	10	0.66056	D	0.02	-9.9553	6.0869	0.19973	0.0:0.3878:0.1422:0.47	.	943;1036;1036	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	H	1036;943;1036	ENSP00000370337:Q1036H;ENSP00000321000:Q943H;ENSP00000382271:Q1036H	ENSP00000321000:Q943H	Q	-	3	2	CEP152	46835629	0.309000	0.24518	0.980000	0.43619	0.959000	0.62525	-0.213000	0.09305	0.114000	0.18032	0.482000	0.46254	CAA		0.428	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		51	59	0	0	0	1	0	51	59				
LRP1	4035	broad.mit.edu	37	12	57590912	57590912	+	Missense_Mutation	SNP	C	C	T			TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr12:57590912C>T	ENST00000243077.3	+	56	9506	c.9040C>T	c.(9040-9042)Cgc>Tgc	p.R3014C	MIR1228_ENST00000408438.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3014	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CTATGCACCCCGCGGCGGCGA	0.637																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(9040-9042)Cgc>Tgc		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						92.0	92.0	92.0					12																	57590912		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57590912C>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.9040C>T	12.37:g.57590912C>T	ENSP00000243077:p.Arg3014Cys						p.R3014C	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	56	9506	+			3014			EGF-like 12; calcium-binding (Potential).		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.9040C>T	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.754067	0.49362	.	.	ENSG00000123384	ENST00000243077	D	0.87256	-2.23	5.16	5.16	0.70880	Growth factor, receptor (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.077298	0.52532	D	0.000074	D	0.82536	0.5058	L	0.45137	1.4	0.80722	D	1	D	0.62365	0.991	B	0.43623	0.425	T	0.83235	-0.0061	10	0.51188	T	0.08	.	11.0405	0.47827	0.2888:0.7112:0.0:0.0	.	3014	Q07954	LRP1_HUMAN	C	3014	ENSP00000243077:R3014C	ENSP00000243077:R3014C	R	+	1	0	LRP1	55877179	0.865000	0.29922	0.560000	0.28344	0.848000	0.48234	1.696000	0.37773	2.679000	0.91253	0.511000	0.50034	CGC		0.637	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		46	50	0	0	0	1	0	46	50				
FUT4	2526	broad.mit.edu	37	11	94277395	94277395	+	Silent	SNP	G	G	T			TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr11:94277395G>T	ENST00000358752.2	+	1	379	c.96G>T	c.(94-96)tcG>tcT	p.S32S	RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	NM_002033.3	NP_002024.1	P22083	FUT4_HUMAN	fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific)	32					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	cell periphery (GO:0071944)|cell surface (GO:0009986)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			central_nervous_system(2)|endometrium(2)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GGGCCTGGTCGGGCCGGCTGG	0.786																																						ENST00000358752.2																			0				central_nervous_system(2)|endometrium(2)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	8						c.(94-96)tcG>tcT		fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific)							4.0	6.0	5.0					11																	94277395		1806	3753	5559	SO:0001819	synonymous_variant	2526				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	alpha(1,3)-fucosyltransferase activity	g.chr11:94277395G>T		CCDS8301.1	11q21	2013-02-26			ENSG00000196371	ENSG00000196371		"""CD molecules"", ""Fucosyltransferases"""	4015	protein-coding gene	gene with protein product	"""ELAM ligand fucosyltransferase"", ""galactoside 3-L-fucosyltransferase"""	104230		CD15, FCT3A, ELFT		1702034	Standard	NM_002033		Approved	FUC-TIV	uc001pez.3	P22083	OTTHUMG00000167795	ENST00000358752.2:c.96G>T	11.37:g.94277395G>T							p.S32S	NM_002033.3	NP_002024.1	P22083	FUT4_HUMAN			1	379	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	32					B2RMS0	Silent	SNP	ENST00000358752.2	37	c.96G>T	CCDS8301.1																																																																																				0.786	FUT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396327.2	NM_002033		12	11	1	0	1.08611e-07	1	1.13548e-07	12	11				
FRG1B	284802	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	T	C			TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr20:29625875T>C	ENST00000278882.3	+	5	499	c.119T>C	c.(118-120)aTc>aCc	p.I40T	FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	40								p.I40T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358																																						ENST00000278882.3																			4	Substitution - Missense(4)	p.I40T(4)	prostate(4)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(118-120)aTc>aCc																																						SO:0001583	missense	0							g.chr20:29625875T>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.119T>C	20.37:g.29625875T>C	ENSP00000278882:p.Ile40Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T	p.I40T							5	499	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.119T>C		.	.	.	.	.	.	.	.	.	.	t	10.51	1.369778	0.24771	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.51071	0.72	1.68	1.68	0.24146	.	0.052751	0.64402	D	0.000001	T	0.59865	0.2225	.	.	.	0.51482	D	0.999924	P	0.49862	0.929	D	0.64687	0.928	T	0.59386	-0.7464	9	0.52906	T	0.07	.	7.3757	0.26827	0.0:0.0:0.0:1.0	.	45	F5H5R5	.	T	40;45;40	ENSP00000408863:I45T	ENSP00000278882:I40T	I	+	2	0	FRG1B	28239536	1.000000	0.71417	0.982000	0.44146	0.025000	0.11179	6.565000	0.73974	1.028000	0.39785	0.155000	0.16302	ATC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	80	0	0	0	1	0	6	80				
SPRED2	200734	broad.mit.edu	37	2	65561891	65561891	+	Missense_Mutation	SNP	T	T	C	rs556500338		TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr2:65561891T>C	ENST00000356388.4	-	3	410	c.221A>G	c.(220-222)tAt>tGt	p.Y74C	SPRED2_ENST00000443619.2_Missense_Mutation_p.Y71C|SPRED2_ENST00000474228.1_5'UTR	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	74	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						CTTTCTTACATAGCATTCCAA	0.433																																						ENST00000356388.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						c.(220-222)tAt>tGt		sprouty-related, EVH1 domain containing 2							166.0	155.0	159.0					2																	65561891		2203	4300	6503	SO:0001583	missense	200734				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding	g.chr2:65561891T>C	AF052178	CCDS33211.1, CCDS46308.1	2p14	2003-06-02			ENSG00000198369	ENSG00000198369			17722	protein-coding gene	gene with protein product		609292					Standard	NM_181784		Approved	Spred-2, FLJ21897, FLJ31917	uc002sdr.4	Q7Z698	OTTHUMG00000152737	ENST00000356388.4:c.221A>G	2.37:g.65561891T>C	ENSP00000348753:p.Tyr74Cys					SPRED2_ENST00000443619.2_Missense_Mutation_p.Y71C|SPRED2_ENST00000474228.1_5'UTR	p.Y74C	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN			3	410	-			74			WH1.		A1L3V4|B7Z5K7|D6W5F7|E9PEP0|Q2NKX6	Missense_Mutation	SNP	ENST00000356388.4	37	c.221A>G	CCDS33211.1	.	.	.	.	.	.	.	.	.	.	T	12.57	1.978881	0.34942	.	.	ENSG00000198369	ENST00000356388;ENST00000443619;ENST00000452315;ENST00000421087;ENST00000440972	D;D;D;D;D	0.98585	-5.01;-5.01;-5.01;-5.01;-5.01	5.28	4.04	0.47022	EVH1 (2);Pleckstrin homology-type (1);	0.228496	0.45361	D	0.000369	D	0.96917	0.8993	N	0.22421	0.69	0.45464	D	0.998431	P;D	0.60575	0.878;0.988	P;P	0.61533	0.736;0.89	D	0.95745	0.8787	10	0.39692	T	0.17	-13.3629	10.4524	0.44531	0.2235:0.0:0.0:0.7765	.	71;74	E9PEP0;Q7Z698	.;SPRE2_HUMAN	C	74;71;89;6;74	ENSP00000348753:Y74C;ENSP00000393697:Y71C;ENSP00000390595:Y89C;ENSP00000407627:Y6C;ENSP00000406481:Y74C	ENSP00000348753:Y74C	Y	-	2	0	SPRED2	65415395	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.831000	0.48144	1.999000	0.58509	0.533000	0.62120	TAT		0.433	SPRED2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327632.1			57	46	0	0	0	1	0	57	46				
IRAK3	11213	broad.mit.edu	37	12	66597520	66597520	+	Missense_Mutation	SNP	G	G	C			TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr12:66597520G>C	ENST00000261233.4	+	2	584	c.163G>C	c.(163-165)Gtt>Ctt	p.V55L	IRAK3_ENST00000457197.2_Intron	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3											breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		CTGGCTGGATGTTCGTCATAT	0.368																																						ENST00000261233.4																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36						c.(163-165)Gtt>Ctt		interleukin-1 receptor-associated kinase 3							73.0	69.0	70.0					12																	66597520		2203	4300	6503	SO:0001583	missense	0				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity	g.chr12:66597520G>C	AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.163G>C	12.37:g.66597520G>C	ENSP00000261233:p.Val55Leu					IRAK3_ENST00000457197.2_Intron	p.V55L	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN		GBM - Glioblastoma multiforme(28;0.0203)	2	584	+			55			Death.			Missense_Mutation	SNP	ENST00000261233.4	37	c.163G>C	CCDS8975.1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.674433	0.67928	.	.	ENSG00000090376	ENST00000261233	D	0.84516	-1.86	5.68	5.68	0.88126	Death (3);DEATH-like (2);	0.000000	0.64402	D	0.000001	D	0.88273	0.6392	L	0.39085	1.19	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.86786	0.1982	9	.	.	.	-17.6364	15.2747	0.73732	0.0:0.0:1.0:0.0	.	55	Q9Y616	IRAK3_HUMAN	L	55	ENSP00000261233:V55L	.	V	+	1	0	IRAK3	64883787	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	3.823000	0.55715	2.690000	0.91761	0.491000	0.48974	GTT		0.368	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401908.1			20	27	0	0	0	1	0	20	27				
TSSC2	650368	broad.mit.edu	37	11	3427885	3427885	+	RNA	SNP	A	A	G			TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr11:3427885A>G	ENST00000529482.1	+	0	1002									tumor suppressing subtransferable candidate 2 pseudogene																		AGCTTCACAGATCCACCGCTG	0.587																																						ENST00000529482.1																			0																																																			0							g.chr11:3427885A>G			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427885A>G														0	1002	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			3	16	0	0	0	1	0	3	16				
ZNF143	7702	broad.mit.edu	37	11	9522776	9522776	+	Missense_Mutation	SNP	C	C	T			TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr11:9522776C>T	ENST00000396602.2	+	11	1225	c.1106C>T	c.(1105-1107)gCc>gTc	p.A369V	ZNF143_ENST00000396604.1_Missense_Mutation_p.A368V|ZNF143_ENST00000299606.2_Missense_Mutation_p.A341V|ZNF143_ENST00000396597.3_Missense_Mutation_p.A338V|ZNF143_ENST00000530463.1_Missense_Mutation_p.A368V	NM_001282656.1|NM_001282657.1|NM_003442.5	NP_001269585.1|NP_001269586.1|NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	369					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		AGGGCATTTGCCAGTGCAACA	0.418																																						ENST00000396602.2																			0				endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13						c.(1105-1107)gCc>gTc		zinc finger protein 143							154.0	143.0	147.0					11																	9522776		2201	4294	6495	SO:0001583	missense	7702				regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding	g.chr11:9522776C>T	U09850	CCDS7799.2, CCDS60720.1, CCDS60721.1	11p15.4	2013-01-08	2006-06-13		ENSG00000166478	ENSG00000166478		"""Zinc fingers, C2H2-type"""	12928	protein-coding gene	gene with protein product		603433	"""zinc finger protein 143 (clone pHZ-1)"""				Standard	NM_003442		Approved	SBF, pHZ-1, STAF	uc001mhr.3	P52747	OTTHUMG00000149922	ENST00000396602.2:c.1106C>T	11.37:g.9522776C>T	ENSP00000379847:p.Ala369Val					ZNF143_ENST00000396597.3_Missense_Mutation_p.A338V|ZNF143_ENST00000396604.1_Missense_Mutation_p.A368V|ZNF143_ENST00000530463.1_Missense_Mutation_p.A368V|ZNF143_ENST00000299606.2_Missense_Mutation_p.A341V	p.A369V	NM_003442.5	NP_003433.3	P52747	ZN143_HUMAN		all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)	11	1225	+			369					A8K518|B4DLY5|E7ER34|O75559|Q8WUK9	Missense_Mutation	SNP	ENST00000396602.2	37	c.1106C>T	CCDS7799.2	.	.	.	.	.	.	.	.	.	.	C	24.3	4.512216	0.85389	.	.	ENSG00000166478	ENST00000396604;ENST00000396602;ENST00000530463;ENST00000396597;ENST00000299606	T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21	5.66	5.66	0.87406	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000001	T	0.38161	0.1030	L	0.35644	1.08	0.80722	D	1	B;B;B	0.31413	0.275;0.322;0.322	B;B;B	0.36719	0.148;0.231;0.231	T	0.23368	-1.0190	10	0.66056	D	0.02	.	19.7617	0.96321	0.0:1.0:0.0:0.0	.	338;368;369	P52747-2;E7ER34;P52747	.;.;ZN143_HUMAN	V	368;369;368;338;341	ENSP00000379849:A368V;ENSP00000379847:A369V;ENSP00000432154:A368V;ENSP00000379843:A338V;ENSP00000299606:A341V	ENSP00000299606:A341V	A	+	2	0	ZNF143	9479352	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.778000	0.85637	2.671000	0.90904	0.655000	0.94253	GCC		0.418	ZNF143-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313921.2	NM_003442		4	139	0	0	0	1	0	4	139				
PDE2A	5138	broad.mit.edu	37	11	72293527	72293527	+	Silent	SNP	G	G	A			TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr11:72293527G>A	ENST00000334456.5	-	21	2057	c.1812C>T	c.(1810-1812)acC>acT	p.T604T	PDE2A_ENST00000418754.2_Silent_p.T489T|RP11-169D4.2_ENST00000545254.1_RNA|PDE2A_ENST00000444035.2_Silent_p.T595T|PDE2A_ENST00000544570.1_Silent_p.T597T|PDE2A_ENST00000540345.1_Silent_p.T595T|PDE2A_ENST00000376450.3_Silent_p.T348T	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	604					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	GAGGGGTATAGGTGAAACTTG	0.527																																						ENST00000334456.5																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36						c.(1810-1812)acC>acT		phosphodiesterase 2A, cGMP-stimulated	Sildenafil(DB00203)|Sulindac(DB00605)						103.0	84.0	90.0					11																	72293527		2200	4293	6493	SO:0001819	synonymous_variant	5138				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr11:72293527G>A	U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"""Phosphodiesterases"""	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.1812C>T	11.37:g.72293527G>A						PDE2A_ENST00000540345.1_Silent_p.T595T|PDE2A_ENST00000444035.2_Silent_p.T595T|PDE2A_ENST00000418754.2_Silent_p.T489T|PDE2A_ENST00000376450.3_Silent_p.T348T|PDE2A_ENST00000544570.1_Silent_p.T597T	p.T604T	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		21	2057	-			604					B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Silent	SNP	ENST00000334456.5	37	c.1812C>T	CCDS8216.1																																																																																				0.527	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219839.2	NM_002599		21	31	0	0	0	1	0	21	31				
PDE4DIP	9659	broad.mit.edu	37	1	144881611	144881611	+	Silent	SNP	C	C	T			TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr1:144881611C>T	ENST00000369354.3	-	25	3774	c.3585G>A	c.(3583-3585)caG>caA	p.Q1195Q	PDE4DIP_ENST00000369356.4_Silent_p.Q1195Q|PDE4DIP_ENST00000530740.1_Silent_p.Q1332Q|PDE4DIP_ENST00000369359.4_Silent_p.Q1332Q|PDE4DIP_ENST00000313382.9_Silent_p.Q1151Q|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1195					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GAGGCTGGGACTGGTTATCCA	0.582			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(3994-3996)caG>caA		phosphodiesterase 4D interacting protein							83.0	75.0	78.0					1																	144881611		2203	4296	6499	SO:0001819	synonymous_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144881611C>T	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.3585G>A	1.37:g.144881611C>T						PDE4DIP_ENST00000530740.1_Silent_p.Q1332Q|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369354.3_Silent_p.Q1195Q|PDE4DIP_ENST00000369356.4_Silent_p.Q1195Q|PDE4DIP_ENST00000313382.9_Silent_p.Q1151Q	p.Q1332Q			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	28	4034	-			1195					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000369354.3	37	c.3996G>A	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	C	0.469	-0.885246	0.02511	.	.	ENSG00000178104	ENST00000530592	.	.	.	5.65	3.75	0.43078	.	.	.	.	.	T	0.29256	0.0728	.	.	.	0.32684	N	0.515111	.	.	.	.	.	.	T	0.12553	-1.0543	4	.	.	.	.	8.6493	0.34025	0.0:0.8259:0.0:0.1741	.	.	.	.	I	90	.	.	V	-	1	0	PDE4DIP	143592968	0.000000	0.05858	0.118000	0.21660	0.026000	0.11368	-0.306000	0.08178	1.621000	0.50320	0.655000	0.94253	GTC		0.582	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		15	66	0	0	0	1	0	15	66				
ASH1L	55870	broad.mit.edu	37	1	155448900	155448900	+	Missense_Mutation	SNP	C	C	A	rs377320289		TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr1:155448900C>A	ENST00000368346.3	-	3	4400	c.3761G>T	c.(3760-3762)cGc>cTc	p.R1254L	ASH1L_ENST00000392403.3_Missense_Mutation_p.R1254L			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1254					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			ATGATTCCTGCGCTTACATTT	0.393																																						ENST00000368346.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(3760-3762)cGc>cTc		ash1 (absent, small, or homeotic)-like (Drosophila)		C	LEU/ARG	0,4406		0,0,2203	179.0	188.0	185.0		3761	5.2	1.0	1		185	1,8599	1.2+/-3.3	0,1,4299	no	missense	ASH1L	NM_018489.2	102	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	probably-damaging	1254/2965	155448900	1,13005	2203	4300	6503	SO:0001583	missense	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155448900C>A	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.3761G>T	1.37:g.155448900C>A	ENSP00000357330:p.Arg1254Leu					ASH1L_ENST00000392403.3_Missense_Mutation_p.R1254L	p.R1254L			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		3	4400	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		1254					Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.3761G>T		.	.	.	.	.	.	.	.	.	.	C	17.21	3.331305	0.60853	0.0	1.16E-4	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.92199	-2.99;-2.99	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.89364	0.6694	N	0.24115	0.695	0.80722	D	1	D;D	0.60575	0.979;0.988	P;P	0.60286	0.748;0.872	D	0.90870	0.4745	10	0.72032	D	0.01	.	11.9182	0.52778	0.0:0.9201:0.0:0.0799	.	1254;1254	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	L	1254	ENSP00000357330:R1254L;ENSP00000376204:R1254L	ENSP00000357330:R1254L	R	-	2	0	ASH1L	153715524	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.933000	0.70130	2.700000	0.92200	0.585000	0.79938	CGC		0.393	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		67	105	1	0	2.23399e-28	1	2.50643e-28	67	105				
VPS13B	157680	broad.mit.edu	37	8	100026096	100026096	+	Missense_Mutation	SNP	A	A	G			TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr8:100026096A>G	ENST00000358544.2	+	2	191	c.80A>G	c.(79-81)cAg>cGg	p.Q27R	VPS13B_ENST00000441350.2_Missense_Mutation_p.Q27R|VPS13B_ENST00000355155.1_Missense_Mutation_p.Q27R|RP11-410L14.2_ENST00000521696.1_lincRNA|VPS13B_ENST00000357162.2_Missense_Mutation_p.Q27R|VPS13B_ENST00000395996.1_Missense_Mutation_p.Q27R	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	27					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCGGATCTACAGCTTTCACTA	0.423																																					Colon(161;2205 2542 7338 31318)	ENST00000395996.1																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(79-81)cAg>cGg		vacuolar protein sorting 13 homolog B (yeast)							197.0	182.0	187.0					8																	100026096		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100026096A>G	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.80A>G	8.37:g.100026096A>G	ENSP00000351346:p.Gln27Arg					VPS13B_ENST00000355155.1_Missense_Mutation_p.Q27R|VPS13B_ENST00000358544.2_Missense_Mutation_p.Q27R|VPS13B_ENST00000441350.2_Missense_Mutation_p.Q27R|VPS13B_ENST00000357162.2_Missense_Mutation_p.Q27R	p.Q27R			Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		2	191	+	Breast(36;3.73e-07)		27					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.80A>G	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.264257	0.80358	.	.	ENSG00000132549	ENST00000355155;ENST00000357162;ENST00000358544;ENST00000395996;ENST00000441350	D;D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6;-1.6	4.85	4.85	0.62838	.	0.000000	0.64402	D	0.000001	T	0.81645	0.4866	N	0.05441	-0.05	0.58432	D	0.999999	D;D;P;P;B	0.69078	0.992;0.997;0.681;0.681;0.291	D;D;B;B;B	0.79108	0.979;0.992;0.187;0.187;0.2	D	0.84219	0.0460	10	0.44086	T	0.13	.	14.6144	0.68539	1.0:0.0:0.0:0.0	.	27;27;27;27;27	Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3;Q7Z7G8-4;Q7Z7G8-5	.;VP13B_HUMAN;.;.;.	R	27	ENSP00000347281:Q27R;ENSP00000349685:Q27R;ENSP00000351346:Q27R;ENSP00000379318:Q27R;ENSP00000398472:Q27R	ENSP00000347281:Q27R	Q	+	2	0	VPS13B	100095272	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	8.916000	0.92745	2.030000	0.59900	0.455000	0.32223	CAG		0.423	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		134	104	0	0	0	1	0	134	104				
ZNF366	167465	broad.mit.edu	37	5	71752404	71752404	+	Missense_Mutation	SNP	A	A	T			TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr5:71752404A>T	ENST00000318442.5	-	3	1841	c.1351T>A	c.(1351-1353)Tgt>Agt	p.C451S		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	451					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		CAAATCCCACACTTATGCTCC	0.512																																						ENST00000318442.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35						c.(1351-1353)Tgt>Agt		zinc finger protein 366							188.0	165.0	173.0					5																	71752404		2203	4300	6503	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:71752404A>T	AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"""Zinc fingers, C2H2-type"""	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.1351T>A	5.37:g.71752404A>T	ENSP00000313158:p.Cys451Ser						p.C451S	NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)	3	1841	-		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)	451					Q5HYI9|Q7RTV4	Missense_Mutation	SNP	ENST00000318442.5	37	c.1351T>A	CCDS4015.1	.	.	.	.	.	.	.	.	.	.	A	18.97	3.736213	0.69189	.	.	ENSG00000178175	ENST00000318442	D	0.99974	-10.2	5.67	5.67	0.87782	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.073634	0.64402	N	0.000015	D	0.99984	0.9995	H	0.97783	4.075	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98891	1.0773	10	0.87932	D	0	-7.3871	15.951	0.79840	1.0:0.0:0.0:0.0	.	451	Q8N895	ZN366_HUMAN	S	451	ENSP00000313158:C451S	ENSP00000313158:C451S	C	-	1	0	ZNF366	71788160	1.000000	0.71417	0.987000	0.45799	0.977000	0.68977	9.339000	0.96797	2.177000	0.69029	0.477000	0.44152	TGT		0.512	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3			31	67	0	0	0	1	0	31	67				
OR5D18	219438	broad.mit.edu	37	11	55587793	55587793	+	Missense_Mutation	SNP	C	C	T	rs143615376		TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr11:55587793C>T	ENST00000333976.4	+	1	708	c.688C>T	c.(688-690)Cgt>Tgt	p.R230C		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	230						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				CCTCAAGATGCGTTCAGTCAG	0.502																																						ENST00000333976.4																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(688-690)Cgt>Tgt		olfactory receptor, family 5, subfamily D, member 18							153.0	128.0	136.0					11																	55587793		2200	4296	6496	SO:0001583	missense	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587793C>T	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.688C>T	11.37:g.55587793C>T	ENSP00000335025:p.Arg230Cys						p.R230C	NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN			1	708	+		all_epithelial(135;0.208)	230					Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	ENST00000333976.4	37	c.688C>T	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	4.065	0.009919	0.07912	.	.	ENSG00000186119	ENST00000333976	T	0.40225	1.04	4.85	0.255	0.15561	GPCR, rhodopsin-like superfamily (1);	2.029550	0.02286	N	0.069875	T	0.36496	0.0969	L	0.42744	1.35	0.09310	N	1	B	0.13594	0.008	B	0.10450	0.005	T	0.29119	-1.0022	10	0.59425	D	0.04	15.2722	5.2378	0.15456	0.4033:0.4405:0.0:0.1563	.	230	Q8NGL1	OR5DI_HUMAN	C	230	ENSP00000335025:R230C	ENSP00000335025:R230C	R	+	1	0	OR5D18	55344369	0.000000	0.05858	0.212000	0.23672	0.099000	0.18886	0.097000	0.15168	0.179000	0.19938	-0.338000	0.08134	CGT		0.502	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		37	43	0	0	0	1	0	37	43				
GPR132	29933	broad.mit.edu	37	14	105518072	105518072	+	Silent	SNP	G	G	A			TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr14:105518072G>A	ENST00000329797.3	-	4	1313	c.402C>T	c.(400-402)tgC>tgT	p.C134C	GPR132_ENST00000546679.1_5'UTR|GPR132_ENST00000392585.2_Silent_p.C125C|GPR132_ENST00000539291.2_Silent_p.C134C	NM_001278694.1|NM_001278696.1|NM_013345.2	NP_001265623.1|NP_001265625.1|NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	134					G1/S transition of mitotic cell cycle (GO:0000082)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		AGGAGATGCAGCACAGGAAGA	0.632																																						ENST00000329797.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(400-402)tgC>tgT		G protein-coupled receptor 132							144.0	125.0	131.0					14																	105518072		2203	4300	6503	SO:0001819	synonymous_variant	29933				response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr14:105518072G>A	AF083955	CCDS9997.1, CCDS61567.1	14q32.3	2012-08-21			ENSG00000183484	ENSG00000183484		"""GPCR / Class A : Orphans"""	17482	protein-coding gene	gene with protein product	"""G2 accumulation"""	606167				12086852	Standard	NM_013345		Approved	G2A	uc001yqd.3	Q9UNW8	OTTHUMG00000140173	ENST00000329797.3:c.402C>T	14.37:g.105518072G>A						GPR132_ENST00000392585.2_Silent_p.C125C|GPR132_ENST00000546679.1_5'UTR|GPR132_ENST00000539291.2_Silent_p.C134C	p.C134C	NM_013345.2	NP_037477.1	Q9UNW8	GP132_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)	4	1313	-		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	134					A8K7X7|B4E144|Q9BSU2	Silent	SNP	ENST00000329797.3	37	c.402C>T	CCDS9997.1																																																																																				0.632	GPR132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409278.1	NM_013345		4	128	0	0	0	1	0	4	128				
LOC81691	81691	broad.mit.edu	37	16	20824563	20824563	+	Missense_Mutation	SNP	G	G	T			TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr16:20824563G>T	ENST00000261377.6	+	3	399	c.190G>T	c.(190-192)Gac>Tac	p.D64Y	AC004381.6_ENST00000348433.6_Missense_Mutation_p.D64Y|AC004381.6_ENST00000564274.1_Missense_Mutation_p.D64Y|ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000567297.1_3'UTR	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2																					AGTAACCCATGACCAGCTGTG	0.413																																						ENST00000261377.6																			0											c.(190-192)Gac>Tac									81.0	77.0	79.0					16																	20824563		2201	4300	6501	SO:0001583	missense	0							g.chr16:20824563G>T																												ENST00000261377.6:c.190G>T	16.37:g.20824563G>T	ENSP00000261377:p.Asp64Tyr					AC004381.6_ENST00000567297.1_3'UTR|AC004381.6_ENST00000564274.1_Missense_Mutation_p.D64Y|AC004381.6_ENST00000348433.6_Missense_Mutation_p.D64Y|ERI2_ENST00000564349.1_Intron	p.D64Y	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2					3	399	+									Missense_Mutation	SNP	ENST00000261377.6	37	c.190G>T	CCDS10591.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.065275	0.55432	.	.	ENSG00000005189	ENST00000348433;ENST00000261377	T;T	0.33216	1.42;1.84	5.56	3.54	0.40534	.	1.291200	0.04565	N	0.392145	T	0.34279	0.0892	L	0.29908	0.895	0.20307	N	0.999916	P;P	0.48016	0.904;0.823	P;P	0.49561	0.563;0.615	T	0.22871	-1.0204	10	0.62326	D	0.03	1.9675	7.9638	0.30087	0.2039:0.0:0.7961:0.0	.	64;64	Q96IC2-2;Q96IC2	.;REXON_HUMAN	Y	64	ENSP00000261378:D64Y;ENSP00000261377:D64Y	ENSP00000261377:D64Y	D	+	1	0	AC004381.6	20732064	0.574000	0.26684	0.343000	0.25615	0.991000	0.79684	1.494000	0.35616	0.621000	0.30232	0.561000	0.74099	GAC		0.413	AC004381.6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254418.2			3	56	1	0	6.4e-05	1	6.54222e-05	3	56				
FAM86EP	348926	broad.mit.edu	37	4	3951121	3951122	+	RNA	INS	-	-	TGTC	rs35568143|rs71636744|rs370806504	byFrequency	TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr4:3951121_3951122insTGTC	ENST00000313946.8	-	0	155				AC226119.5_ENST00000281228.8_RNA					family with sequence similarity 86, member E, pseudogene																		cgttttcACTTTGTGCAGGAAG	0.515														4218	0.842252	0.9834	0.8357	5008	,	,		15370	0.8373		0.7694	False		,,,				2504	0.7362					ENST00000281228.8																			0																																																			0							g.chr4:3951121_3951122insTGTC			4p16.3	2011-07-01			ENSG00000251669	ENSG00000251669			28017	pseudogene	pseudogene						12477932	Standard	NR_024253		Approved		uc011bvu.2		OTTHUMG00000159867		4.37:g.3951121_3951122insTGTC						FAM86EP_ENST00000313946.8_RNA								0	344	-									RNA	INS	ENST00000313946.8	37																																																																																						0.515	FAM86EP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357822.1			6	4						6	4	---	---	---	---
NOX3	50508	broad.mit.edu	37	6	155761204	155761204	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr6:155761204delA	ENST00000159060.2	-	6	656	c.554delT	c.(553-555)gtcfs	p.V185fs		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	185	Ferric oxidoreductase.				detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CATGATCAAGACTAAAGCCAG	0.438																																						ENST00000159060.2																			0				cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45						c.(553-555)gcfs		NADPH oxidase 3							145.0	134.0	138.0					6																	155761204		2203	4300	6503	SO:0001589	frameshift_variant	50508						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr6:155761204delA	AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.554delT	6.37:g.155761204delA	ENSP00000159060:p.Val185fs						p.V185fs	NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)	6	656	-		Breast(66;0.0183)	185			Ferric oxidoreductase.		Q9HBJ9	Frame_Shift_Del	DEL	ENST00000159060.2	37	c.554delT	CCDS5250.1																																																																																				0.438	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1			21	36						21	36	---	---	---	---
FOXA1	3169	broad.mit.edu	37	14	38061223	38061228	+	In_Frame_Del	DEL	TCTCGA	TCTCGA	-			TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr14:38061223_38061228delTCTCGA	ENST00000250448.2	-	2	822_827	c.761_766delTCGAGA	c.(760-768)ttcgagaac>tac	p.254_256FEN>Y	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_In_Frame_Del_p.221_223FEN>Y	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	254					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		TAGCAGCCGTTCTCGAACATGTTGCC	0.689																																						ENST00000250448.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(760-768)tac>t		forkhead box A1																																				SO:0001651	inframe_deletion	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38061223_38061228delTCTCGA	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.761_766delTCGAGA	14.37:g.38061223_38061228delTCTCGA	ENSP00000250448:p.Phe254_Asn256delinsTyr					FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_In_Frame_Del_p.FEN221del	p.FEN254del	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	822_827	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		254					B2R9H6|B7ZAP5|Q9H2A0	In_Frame_Del	DEL	ENST00000250448.2	37	c.761_766delTCGAGA	CCDS9665.1																																																																																				0.689	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			14	17						14	17	---	---	---	---
HERC2P9	440248	broad.mit.edu	37	15	28900331	28900331	+	RNA	DEL	A	A	-			TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr15:28900331delA	ENST00000528584.1	+	0	14					NR_036443.1				hect domain and RLD 2 pseudogene 9																		actctgtctcaaaaaaaaaaa	0.413																																						ENST00000528584.1																			0																																																			0							g.chr15:28900331delA	BC047911		15q13.1	2011-05-24			ENSG00000206149	ENSG00000206149			30495	pseudogene	pseudogene							Standard	NR_036443		Approved	FLJ59185	uc010azc.3		OTTHUMG00000167114		15.37:g.28900331delA								NR_036443.1						0	14	+									RNA	DEL	ENST00000528584.1	37																																																																																						0.413	HERC2P9-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000393268.1	NR_036443		4	6						4	6	---	---	---	---
NCOR1	9611	broad.mit.edu	37	17	16042456	16042456	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr17:16042456delC	ENST00000268712.3	-	12	1475	c.1218delG	c.(1216-1218)atgfs	p.M407fs	NCOR1_ENST00000395851.1_Frame_Shift_Del_p.M407fs|NCOR1_ENST00000395848.1_Frame_Shift_Del_p.M298fs|RNU6-862P_ENST00000362804.1_RNA	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	407					CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CATCAAACATCATAGGTGGAA	0.338																																						ENST00000268712.3																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107						c.(1216-1218)atfs		nuclear receptor corepressor 1							66.0	62.0	63.0					17																	16042456		2203	4300	6503	SO:0001589	frameshift_variant	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:16042456delC	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.1218delG	17.37:g.16042456delC	ENSP00000268712:p.Met407fs					NCOR1_ENST00000395848.1_Frame_Shift_Del_p.M298fs|NCOR1_ENST00000395851.1_Frame_Shift_Del_p.M407fs	p.M407fs	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	12	1475	-			407					B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Frame_Shift_Del	DEL	ENST00000268712.3	37	c.1218delG	CCDS11175.1																																																																																				0.338	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		27	62						27	62	---	---	---	---
C19orf33	64073	broad.mit.edu	37	19	38795558	38795566	+	In_Frame_Del	DEL	AGAAGGGCA	AGAAGGGCA	-			TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr19:38795558_38795566delAGAAGGGCA	ENST00000301246.5	+	4	376_384	c.275_283delAGAAGGGCA	c.(274-285)gagaagggcaag>gag	p.KGK93del	C19orf33_ENST00000588605.1_3'UTR	NM_033520.1	NP_277055.1	Q9GZP8	IMUP_HUMAN	chromosome 19 open reading frame 33	93						nucleus (GO:0005634)						all_cancers(60;1.07e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			aagaagaaggagaagggcaagaaggagaa	0.608																																						ENST00000301246.5																			0											c.(274-285)gag>g		chromosome 19 open reading frame 33																																				SO:0001651	inframe_deletion	64073					nucleus		g.chr19:38795558_38795566delAGAAGGGCA	AF213678	CCDS12511.1	19q13.2	2012-10-26			ENSG00000167644	ENSG00000167644			16668	protein-coding gene	gene with protein product	"""immortalization-upregulated protein"", ""HAI-2 related small protein"", ""hepatocyte growth factor activator inhibitor type 2-related small protein"""					11080599	Standard	NM_033520		Approved	IMUP-1, IMUP-2, H2RSP, IMUP	uc002ohu.1	Q9GZP8	OTTHUMG00000181894	ENST00000301246.5:c.275_283delAGAAGGGCA	19.37:g.38795558_38795566delAGAAGGGCA	ENSP00000301246:p.Lys93_Lys95del					C19orf33_ENST00000588605.1_3'UTR	p.EKGK92del	NM_033520.1	NP_277055.1	Q9GZP8	IMUP_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		4	376_384	+	all_cancers(60;1.07e-06)		92					Q0P6G2|Q96H58|Q9HCR4	In_Frame_Del	DEL	ENST00000301246.5	37	c.275_283delAGAAGGGCA	CCDS12511.1																																																																																				0.608	C19orf33-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458168.1	NM_033520		10	21						10	21	---	---	---	---
ERF	2077	broad.mit.edu	37	19	42753613	42753614	+	Frame_Shift_Ins	INS	-	-	T			TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr19:42753613_42753614insT	ENST00000222329.4	-	4	807_808	c.650_651insA	c.(649-651)ttcfs	p.F217fs	AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000595941.1_5'Flank|ERF_ENST00000440177.2_Frame_Shift_Ins_p.F142fs	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	217					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				GGGGCCCTCGGAAGGCACCCAG	0.693																																						ENST00000222329.4																			0				central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17						c.(649-651)tcgfs		Ets2 repressor factor																																				SO:0001589	frameshift_variant	2077				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:42753613_42753614insT	U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"""Ets2 repressor factor"""	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.650_651insA	19.37:g.42753613_42753614insT	ENSP00000222329:p.Phe217fs					AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_Frame_Shift_Ins_p.S142fs	p.S217fs	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN			4	807_808	-		Prostate(69;0.00682)	217					B2RAP1|B7Z4R0|Q59G38|Q9UPI7	Frame_Shift_Ins	INS	ENST00000222329.4	37	c.650_651insA	CCDS12600.1																																																																																				0.693	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	NM_006494		6	10						6	10	---	---	---	---
