#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_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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_ORegAnno_bin	i_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	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
PLA2G2F	64600	broad.mit.edu	37	1	20466009	20466009	+	Missense_Mutation	SNP	G	G	T			TCGA-24-0975-01B-02W-0486-08	TCGA-24-0975-10B-01W-0486-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	fa9da8ab-3022-47ac-9f44-1304ac2cdd88	2722ccd7-af57-43d9-9d6e-79f3267fb43f	g.chr1:20466009G>T	ENST00000375102.3	+	1	191	c.89G>T	c.(88-90)gGg>gTg	p.G30V		NM_022819.3	NP_073730.3	Q9BZM2	PA2GF_HUMAN	phospholipase A2, group IIF	0					glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)	p.G30V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		CCACGCTTCGGGGCCTCCTGT	0.597																																																1	Substitution - Missense(1)	ovary(1)	1											31.0	37.0	35.0					1																	20466009		1874	4093	5967	20338596	SO:0001583	missense	64600			AL158172	CCDS204.2	1p35	2008-09-19			ENSG00000158786	ENSG00000158786	3.1.1.4		30040	protein-coding gene	gene with protein product						11112443	Standard	NM_022819		Approved		uc009vpp.1	Q9BZM2	OTTHUMG00000002704	ENST00000375102.3:c.89G>T	1.37:g.20466009G>T	ENSP00000364243:p.Gly30Val		20338596	Q5R385|Q8N217|Q9H506	Missense_Mutation	SNP	ENST00000375102.3	37	CCDS204.2	.	.	.	.	.	.	.	.	.	.	G	2.358	-0.347260	0.05208	.	.	ENSG00000158786	ENST00000375102	T	0.26810	1.71	5.14	0.956	0.19608	.	12.144800	0.00166	N	0.000000	T	0.19886	0.0478	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22695	-1.0209	9	0.52906	T	0.07	-12.6177	5.2192	0.15360	0.1895:0.3662:0.4443:0.0	.	30	Q9BZM2-2	.	V	30	ENSP00000364243:G30V	ENSP00000364243:G30V	G	+	2	0	PLA2G2F	20338596	0.027000	0.19231	0.000000	0.03702	0.001000	0.01503	0.236000	0.17967	0.236000	0.21180	0.655000	0.94253	GGG		0.597	PLA2G2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007687.1	NM_022819	
CCSER2	54462	broad.mit.edu	37	10	86131680	86131680	+	Missense_Mutation	SNP	A	A	G			TCGA-24-0975-01B-02W-0486-08	TCGA-24-0975-10B-01W-0486-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa9da8ab-3022-47ac-9f44-1304ac2cdd88	2722ccd7-af57-43d9-9d6e-79f3267fb43f	g.chr10:86131680A>G	ENST00000224756.8	+	2	1057	c.872A>G	c.(871-873)aAt>aGt	p.N291S	CCSER2_ENST00000372088.2_Missense_Mutation_p.N291S|CCSER2_ENST00000359979.4_Missense_Mutation_p.N291S	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2	Q9H7U1	CCSE2_HUMAN	coiled-coil serine-rich protein 2	291					microtubule bundle formation (GO:0001578)	microtubule cytoskeleton (GO:0015630)		p.N291S(1)									TATGGATTTAATAGGCCTTAT	0.433																																																1	Substitution - Missense(1)	ovary(1)	10											108.0	106.0	107.0					10																	86131680		2203	4300	6503	86121660	SO:0001583	missense	54462				CCDS31235.1, CCDS60582.1, CCDS60583.1, CCDS73159.1	10q23.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000107771	ENSG00000107771			29197	protein-coding gene	gene with protein product			"""KIAA1128"", ""family with sequence similarity 190, member B"""	KIAA1128, FAM190B		10574461	Standard	XM_005269905		Approved		uc001kdh.1	Q9H7U1	OTTHUMG00000018641	ENST00000224756.8:c.872A>G	10.37:g.86131680A>G	ENSP00000224756:p.Asn291Ser		86121660	B4DFY4|B4DQU9|B7WPE8|D3DWE2|Q8N6E9|Q9H2S0|Q9ULU1	Missense_Mutation	SNP	ENST00000224756.8	37	CCDS31235.1	.	.	.	.	.	.	.	.	.	.	A	8.687	0.906538	0.17833	.	.	ENSG00000107771	ENST00000359979;ENST00000224756;ENST00000372088	T;T;T	0.46063	0.88;2.23;2.19	5.97	3.66	0.41972	.	0.384238	0.26871	N	0.022064	T	0.34395	0.0896	L	0.46157	1.445	0.80722	D	1	B;B;P	0.44429	0.084;0.023;0.835	B;B;B	0.43889	0.04;0.02;0.435	T	0.06716	-1.0811	10	0.31617	T	0.26	-13.2934	4.9433	0.13976	0.6824:0.157:0.1606:0.0	.	291;291;291	Q9H7U1-3;Q9H7U1;Q9H7U1-2	.;F190B_HUMAN;.	S	291	ENSP00000353068:N291S;ENSP00000224756:N291S;ENSP00000361160:N291S	ENSP00000224756:N291S	N	+	2	0	FAM190B	86121660	0.748000	0.28294	0.557000	0.28306	0.995000	0.86356	0.251000	0.18257	0.519000	0.28406	0.533000	0.62120	AAT		0.433	CCSER2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049132.2	NM_018999	
CCDC172	374355	broad.mit.edu	37	10	118101593	118101593	+	Missense_Mutation	SNP	A	A	C			TCGA-24-0975-01B-02W-0486-08	TCGA-24-0975-10B-01W-0486-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa9da8ab-3022-47ac-9f44-1304ac2cdd88	2722ccd7-af57-43d9-9d6e-79f3267fb43f	g.chr10:118101593A>C	ENST00000333254.3	+	5	579	c.328A>C	c.(328-330)Aag>Cag	p.K110Q	CCDC172_ENST00000497093.1_3'UTR	NM_198515.2	NP_940917.1	P0C7W6	CC172_HUMAN	coiled-coil domain containing 172	110								p.K110Q(1)									CAAATTTATTAAGGAAATTAC	0.259																																																1	Substitution - Missense(1)	ovary(1)	10											31.0	36.0	34.0					10																	118101593		2161	4243	6404	118091583	SO:0001583	missense	374355			BC044830	CCDS31291.1	10q26.11-q26.12	2012-05-31	2012-05-31	2012-05-31	ENSG00000182645	ENSG00000182645			30524	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 96"""	C10orf96		12477932	Standard	NM_198515		Approved	MGC35062	uc001lck.3	P0C7W6	OTTHUMG00000019098	ENST00000333254.3:c.328A>C	10.37:g.118101593A>C	ENSP00000329860:p.Lys110Gln		118091583		Missense_Mutation	SNP	ENST00000333254.3	37	CCDS31291.1	.	.	.	.	.	.	.	.	.	.	A	16.94	3.261195	0.59431	.	.	ENSG00000182645	ENST00000333254;ENST00000423072	.	.	.	5.41	5.41	0.78517	.	0.114530	0.64402	D	0.000018	T	0.78773	0.4336	M	0.74881	2.28	0.37492	D	0.91644	D	0.89917	1.0	D	0.81914	0.995	D	0.83584	0.0119	9	0.66056	D	0.02	-17.1936	15.7228	0.77728	1.0:0.0:0.0:0.0	.	110	P0C7W6	CJ096_HUMAN	Q	110	.	ENSP00000329860:K110Q	K	+	1	0	C10orf96	118091583	1.000000	0.71417	1.000000	0.80357	0.436000	0.31835	3.681000	0.54648	2.179000	0.69175	0.533000	0.62120	AAG		0.259	CCDC172-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050516.2	NM_198515	
MMP27	64066	broad.mit.edu	37	11	102573489	102573489	+	Missense_Mutation	SNP	C	C	T			TCGA-24-0975-01B-02W-0486-08	TCGA-24-0975-10B-01W-0486-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa9da8ab-3022-47ac-9f44-1304ac2cdd88	2722ccd7-af57-43d9-9d6e-79f3267fb43f	g.chr11:102573489C>T	ENST00000260229.4	-	4	705	c.614G>A	c.(613-615)gGa>gAa	p.G205E		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	205					collagen catabolic process (GO:0030574)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G205E(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	Marimastat(DB00786)	CTCACCTGCTCCATCCTTGGT	0.413																																																1	Substitution - Missense(1)	ovary(1)	11											93.0	101.0	98.0					11																	102573489		2203	4299	6502	102078699	SO:0001583	missense	64066			AF195192	CCDS8319.1	11q24	2008-07-18	2005-08-08		ENSG00000137675	ENSG00000137675			14250	protein-coding gene	gene with protein product	"""matrix metalloprotease 27"""		"""matrix metalloproteinase 27"""			10419448	Standard	NM_022122		Approved		uc001phd.1	Q9H306	OTTHUMG00000168099	ENST00000260229.4:c.614G>A	11.37:g.102573489C>T	ENSP00000260229:p.Gly205Glu		102078699	Q6UWK6	Missense_Mutation	SNP	ENST00000260229.4	37	CCDS8319.1	.	.	.	.	.	.	.	.	.	.	C	7.176	0.588575	0.13812	.	.	ENSG00000137675	ENST00000260229	T	0.19105	2.17	5.79	-0.0298	0.13917	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	3.224240	0.00531	N	0.000214	T	0.17874	0.0429	N	0.25825	0.765	0.09310	N	1	B	0.06786	0.001	B	0.15052	0.012	T	0.29941	-0.9995	10	0.31617	T	0.26	.	10.4187	0.44338	0.0671:0.5236:0.3323:0.077	.	205	Q9H306	MMP27_HUMAN	E	205	ENSP00000260229:G205E	ENSP00000260229:G205E	G	-	2	0	MMP27	102078699	0.001000	0.12720	0.007000	0.13788	0.554000	0.35429	0.613000	0.24299	-0.189000	0.10482	-0.344000	0.07964	GGA		0.413	MMP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398128.1	NM_022122	
PFKM	5213	broad.mit.edu	37	12	48529115	48529115	+	Silent	SNP	C	C	G			TCGA-24-0975-01B-02W-0486-08	TCGA-24-0975-10B-01W-0486-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	fa9da8ab-3022-47ac-9f44-1304ac2cdd88	2722ccd7-af57-43d9-9d6e-79f3267fb43f	g.chr12:48529115C>G	ENST00000312352.7	+	10	924	c.885C>G	c.(883-885)gtC>gtG	p.V295V	PFKM_ENST00000395233.2_Intron|PFKM_ENST00000551804.1_Intron|PFKM_ENST00000359794.5_Silent_p.V295V|PFKM_ENST00000340802.6_Silent_p.V366V|PFKM_ENST00000547587.1_Silent_p.V295V	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle	295	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of insulin secretion (GO:0032024)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.V295V(1)		NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						GGGTTACTGTCTTGGGGCATG	0.537																																																1	Substitution - coding silent(1)	ovary(1)	12											136.0	114.0	122.0					12																	48529115		2203	4300	6503	46815382	SO:0001819	synonymous_variant	5213			M26066	CCDS8760.1, CCDS53786.1	12q13.11	2014-06-13					2.7.1.11		8877	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 122"""	610681	"""phosphofructokinase, polypeptide X"""	PFKX			Standard	NM_001166686		Approved	PFK-1, PPP1R122	uc001rrb.2	P08237		ENST00000312352.7:c.885C>G	12.37:g.48529115C>G			46815382	J3KNX3|Q16814|Q16815|Q6ZTT1	Silent	SNP	ENST00000312352.7	37	CCDS8760.1																																																																																				0.537	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406490.1	NM_000289	
PABPC3	5042	broad.mit.edu	37	13	25670542	25670542	+	Missense_Mutation	SNP	T	T	G			TCGA-24-0975-01B-02W-0486-08	TCGA-24-0975-10B-01W-0486-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa9da8ab-3022-47ac-9f44-1304ac2cdd88	2722ccd7-af57-43d9-9d6e-79f3267fb43f	g.chr13:25670542T>G	ENST00000281589.3	+	1	243	c.206T>G	c.(205-207)cTg>cGg	p.L69R		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	69	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)	p.L69R(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		GAGCATGCTCTGGACACCATG	0.512																																																1	Substitution - Missense(1)	ovary(1)	13											83.0	74.0	77.0					13																	25670542		2203	4300	6503	24568542	SO:0001583	missense	5042			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.206T>G	13.37:g.25670542T>G	ENSP00000281589:p.Leu69Arg		24568542	Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	T	14.72	2.619291	0.46736	.	.	ENSG00000151846	ENST00000281589	T	0.21734	1.99	0.546	0.546	0.17196	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.36854	U	0.002362	T	0.33789	0.0875	M	0.78344	2.41	0.44345	D	0.997233	D	0.54397	0.966	P	0.57009	0.811	T	0.11591	-1.0581	10	0.87932	D	0	.	5.327	0.15913	0.0:1.0E-4:0.0:0.9999	.	69	Q9H361	PABP3_HUMAN	R	69	ENSP00000281589:L69R	ENSP00000281589:L69R	L	+	2	0	PABPC3	24568542	1.000000	0.71417	0.012000	0.15200	0.039000	0.13416	5.455000	0.66658	0.469000	0.27268	0.254000	0.18369	CTG		0.512	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979	
GMPR2	51292	broad.mit.edu	37	14	24707478	24707478	+	Missense_Mutation	SNP	G	G	C			TCGA-24-0975-01B-02W-0486-08	TCGA-24-0975-10B-01W-0486-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	fa9da8ab-3022-47ac-9f44-1304ac2cdd88	2722ccd7-af57-43d9-9d6e-79f3267fb43f	g.chr14:24707478G>C	ENST00000355299.4	+	9	1185	c.724G>C	c.(724-726)Ggt>Cgt	p.G242R	GMPR2_ENST00000348719.7_Missense_Mutation_p.G242R|GMPR2_ENST00000559104.1_Missense_Mutation_p.G227R|GMPR2_ENST00000559910.1_Missense_Mutation_p.G209R|GMPR2_ENST00000557854.1_Missense_Mutation_p.G260R|GMPR2_ENST00000559836.1_Missense_Mutation_p.G242R|GMPR2_ENST00000420554.2_Missense_Mutation_p.G260R|GMPR2_ENST00000456667.3_Missense_Mutation_p.G214R|GMPR2_ENST00000399440.2_Missense_Mutation_p.G242R	NM_001002000.1	NP_001002000.1	Q9P2T1	GMPR2_HUMAN	guanosine monophosphate reductase 2	242	GMP binding.		G -> D (in dbSNP:rs34354104).		GMP metabolic process (GO:0046037)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|GMP reductase complex (GO:1902560)	GMP reductase activity (GO:0003920)|metal ion binding (GO:0046872)	p.G242R(1)		large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(265;0.0181)		CGTGATGCTGGGTGGCATGCT	0.542																																																1	Substitution - Missense(1)	ovary(1)	14											67.0	71.0	70.0					14																	24707478		2155	4259	6414	23777318	SO:0001583	missense	51292				CCDS41935.1, CCDS45087.1, CCDS61419.1, CCDS73624.1	14q11.2	2006-11-24							4377	protein-coding gene	gene with protein product		610781					Standard	XM_005267742		Approved		uc001wnw.3	Q9P2T1		ENST00000355299.4:c.724G>C	14.37:g.24707478G>C	ENSP00000347449:p.Gly242Arg		23777318	D3DS66|Q567T0|Q6IAJ8|Q86T14	Missense_Mutation	SNP	ENST00000355299.4	37	CCDS41935.1	.	.	.	.	.	.	.	.	.	.	G	33	5.203665	0.95033	.	.	ENSG00000100938	ENST00000355299;ENST00000421944;ENST00000420554;ENST00000399440;ENST00000348719;ENST00000456667	D;D;D;D;D	0.96802	-4.13;-4.13;-4.13;-4.13;-4.13	6.17	6.17	0.99709	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	0.000000	0.85682	D	0.000000	D	0.99281	0.9749	H	0.99897	4.91	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.98294	1.0515	10	0.87932	D	0	3.1611	19.6509	0.95805	0.0:0.0:1.0:0.0	.	79;214;242;260;244;242	Q86SZ5;Q86T14;Q6PKC0;Q9P2T1-2;Q7Z527;Q9P2T1	.;.;.;.;.;GMPR2_HUMAN	R	242;242;260;242;242;214	ENSP00000347449:G242R;ENSP00000392859:G260R;ENSP00000382369:G242R;ENSP00000334409:G242R;ENSP00000405743:G214R	ENSP00000334409:G242R	G	+	1	0	GMPR2	23777318	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.864000	0.99589	2.941000	0.99782	0.655000	0.94253	GGT		0.542	GMPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415821.2	NM_016576	
EDC4	23644	broad.mit.edu	37	16	67913022	67913022	+	Missense_Mutation	SNP	A	A	G	rs370573849		TCGA-24-0975-01B-02W-0486-08	TCGA-24-0975-10B-01W-0486-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa9da8ab-3022-47ac-9f44-1304ac2cdd88	2722ccd7-af57-43d9-9d6e-79f3267fb43f	g.chr16:67913022A>G	ENST00000358933.5	+	12	1689	c.1450A>G	c.(1450-1452)Aat>Gat	p.N484D	AC040162.1_ENST00000408599.1_RNA|EDC4_ENST00000574770.1_3'UTR	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	484					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)		p.N484D(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CGAAGAGGAAAATGACAGCCT	0.587													A|||	1	0.000199681	0.0	0.0	5008	,	,		19625	0.0		0.0	False		,,,				2504	0.001															1	Substitution - Missense(1)	ovary(1)	16						A	ASP/ASN	0,4396		0,0,2198	42.0	40.0	41.0		1450	4.4	1.0	16		41	1,8599	1.2+/-3.3	0,1,4299	no	missense	EDC4	NM_014329.3	23	0,1,6497	GG,GA,AA		0.0116,0.0,0.0077	benign	484/1402	67913022	1,12995	2198	4300	6498	66470523	SO:0001583	missense	23644			U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.1450A>G	16.37:g.67913022A>G	ENSP00000351811:p.Asn484Asp		66470523	A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Missense_Mutation	SNP	ENST00000358933.5	37	CCDS10849.1	.	.	.	.	.	.	.	.	.	.	A	6.254	0.414925	0.11870	0.0	1.16E-4	ENSG00000038358	ENST00000358933;ENST00000536072	.	.	.	5.53	4.41	0.53225	.	0.436377	0.28533	N	0.015001	T	0.17238	0.0414	N	0.03154	-0.405	0.30420	N	0.778255	B;B;B	0.24721	0.0;0.11;0.094	B;B;B	0.22152	0.001;0.038;0.016	T	0.14587	-1.0467	9	0.09084	T	0.74	-10.1088	9.8938	0.41306	0.9122:0.0:0.0878:0.0	.	416;103;484	B7Z7V8;Q6P2E9-2;Q6P2E9	.;.;EDC4_HUMAN	D	484;416	.	ENSP00000351811:N484D	N	+	1	0	EDC4	66470523	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.046000	0.71029	2.324000	0.78689	0.533000	0.62120	AAT		0.587	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329	
RYR1	6261	broad.mit.edu	37	19	39063890	39063890	+	Missense_Mutation	SNP	A	A	T			TCGA-24-0975-01B-02W-0486-08	TCGA-24-0975-10B-01W-0486-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa9da8ab-3022-47ac-9f44-1304ac2cdd88	2722ccd7-af57-43d9-9d6e-79f3267fb43f	g.chr19:39063890A>T	ENST00000359596.3	+	96	14072	c.14072A>T	c.(14071-14073)gAg>gTg	p.E4691V	RYR1_ENST00000355481.4_Missense_Mutation_p.E4686V|RYR1_ENST00000360985.3_Missense_Mutation_p.E4686V			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4691					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.E4691V(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TACATCACGGAGCAGCCTGAG	0.622																																																1	Substitution - Missense(1)	ovary(1)	19											110.0	92.0	98.0					19																	39063890		2203	4300	6503	43755730	SO:0001583	missense	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.14072A>T	19.37:g.39063890A>T	ENSP00000352608:p.Glu4691Val		43755730	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	A	13.07	2.128562	0.37533	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.97620	-4.46;-4.46;-4.45	4.52	4.52	0.55395	.	0.000000	0.64402	U	0.000002	D	0.98213	0.9409	M	0.81112	2.525	0.58432	D	0.999995	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.991	D	0.99160	1.0861	10	0.87932	D	0	.	13.6586	0.62352	1.0:0.0:0.0:0.0	.	4686;4691	P21817-2;P21817	.;RYR1_HUMAN	V	4691;4686;4686	ENSP00000352608:E4691V;ENSP00000347667:E4686V;ENSP00000354254:E4686V	ENSP00000347667:E4686V	E	+	2	0	RYR1	43755730	1.000000	0.71417	0.992000	0.48379	0.537000	0.34900	8.951000	0.93025	1.909000	0.55274	0.379000	0.24179	GAG		0.622	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		
B3GALT1	8708	broad.mit.edu	37	2	168725920	168725920	+	Missense_Mutation	SNP	C	C	A			TCGA-24-0975-01B-02W-0486-08	TCGA-24-0975-10B-01W-0486-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	fa9da8ab-3022-47ac-9f44-1304ac2cdd88	2722ccd7-af57-43d9-9d6e-79f3267fb43f	g.chr2:168725920C>A	ENST00000392690.3	+	1	463	c.371C>A	c.(370-372)cCt>cAt	p.P124H	AC016723.4_ENST00000436982.2_RNA|AC016723.4_ENST00000430546.1_RNA|B3GALT1_ENST00000305861.1_Missense_Mutation_p.P124H			Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1	124					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)	p.P124H(1)		cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						AATGCTGATCCTGTTCTCAAT	0.468																																																1	Substitution - Missense(1)	ovary(1)	2											78.0	71.0	74.0					2																	168725920		2203	4300	6503	168434166	SO:0001583	missense	8708			E07739	CCDS2227.1	2q24.3	2013-02-19			ENSG00000172318	ENSG00000172318		"""Beta 3-glycosyltransferases"""	916	protein-coding gene	gene with protein product		603093				9582303	Standard	NM_020981		Approved	beta3Gal-T1	uc002udz.1	Q9Y5Z6	OTTHUMG00000132163	ENST00000392690.3:c.371C>A	2.37:g.168725920C>A	ENSP00000376456:p.Pro124His		168434166	D3DPB8|Q53SS2	Missense_Mutation	SNP	ENST00000392690.3	37	CCDS2227.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.679415	0.47886	.	.	ENSG00000172318	ENST00000305861;ENST00000392690	T;T	0.41065	1.01;1.01	6.16	6.16	0.99307	.	0.209095	0.47093	D	0.000247	T	0.49287	0.1548	L	0.45352	1.415	0.42985	D	0.99447	P	0.48764	0.915	P	0.48840	0.592	T	0.37478	-0.9704	10	0.51188	T	0.08	-15.6779	20.8598	0.99761	0.0:1.0:0.0:0.0	.	124	Q9Y5Z6	B3GT1_HUMAN	H	124	ENSP00000303740:P124H;ENSP00000376456:P124H	ENSP00000303740:P124H	P	+	2	0	B3GALT1	168434166	0.989000	0.36119	1.000000	0.80357	0.985000	0.73830	2.867000	0.48428	2.937000	0.99478	0.650000	0.86243	CCT		0.468	B3GALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255211.2	NM_020981	
KDM3B	51780	broad.mit.edu	37	5	137727864	137727864	+	Missense_Mutation	SNP	A	A	G	rs148445583	byFrequency	TCGA-24-0975-01B-02W-0486-08	TCGA-24-0975-10B-01W-0486-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	fa9da8ab-3022-47ac-9f44-1304ac2cdd88	2722ccd7-af57-43d9-9d6e-79f3267fb43f	g.chr5:137727864A>G	ENST00000314358.5	+	8	2743	c.2543A>G	c.(2542-2544)aAt>aGt	p.N848S	KDM3B_ENST00000394866.1_Missense_Mutation_p.N504S|KDM3B_ENST00000542866.1_Intron	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	848					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)	p.N848S(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						CTGGGCCCCAATGGGGAGCGC	0.607													A|||	2	0.000399361	0.0	0.0	5008	,	,		17648	0.0		0.002	False		,,,				2504	0.0															1	Substitution - Missense(1)	ovary(1)	5						A	SER/ASN	2,4404	4.2+/-10.8	0,2,2201	43.0	49.0	47.0		2543	5.8	1.0	5	dbSNP_134	47	7,8593	6.4+/-24.3	0,7,4293	yes	missense	KDM3B	NM_016604.3	46	0,9,6494	GG,GA,AA		0.0814,0.0454,0.0692	benign	848/1762	137727864	9,12997	2203	4300	6503	137755763	SO:0001583	missense	51780			AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.2543A>G	5.37:g.137727864A>G	ENSP00000326563:p.Asn848Ser		137755763	A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	ENST00000314358.5	37	CCDS34242.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	A	11.85	1.761087	0.31137	4.54E-4	8.14E-4	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866	T;T	0.69561	0.17;-0.41	5.84	5.84	0.93424	.	0.302632	0.36066	N	0.002802	T	0.52917	0.1764	L	0.36672	1.1	0.80722	D	1	B;B	0.17852	0.009;0.024	B;B	0.12156	0.007;0.005	T	0.48636	-0.9018	10	0.09338	T	0.73	-12.9489	12.0312	0.53399	0.9309:0.0:0.0691:0.0	.	504;848	Q7LBC6-2;Q7LBC6	.;KDM3B_HUMAN	S	848;638;504	ENSP00000326563:N848S;ENSP00000378335:N504S	ENSP00000326563:N848S	N	+	2	0	KDM3B	137755763	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.801000	0.47908	2.229000	0.72834	0.460000	0.39030	AAT		0.607	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604	
PCDH12	51294	broad.mit.edu	37	5	141337204	141337204	+	Silent	SNP	C	C	G			TCGA-24-0975-01B-02W-0486-08	TCGA-24-0975-10B-01W-0486-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa9da8ab-3022-47ac-9f44-1304ac2cdd88	2722ccd7-af57-43d9-9d6e-79f3267fb43f	g.chr5:141337204C>G	ENST00000231484.3	-	1	1423	c.213G>C	c.(211-213)ctG>ctC	p.L71L	PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	71	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L71L(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCCTGAGGCAGCTGCAACA	0.642																																																1	Substitution - coding silent(1)	ovary(1)	5											54.0	54.0	54.0					5																	141337204		2203	4300	6503	141317388	SO:0001819	synonymous_variant	51294			AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"""Cadherins / Protocadherins : Non-clustered"""	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.213G>C	5.37:g.141337204C>G			141317388	Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Silent	SNP	ENST00000231484.3	37	CCDS4269.1																																																																																				0.642	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580	
AHI1	54806	broad.mit.edu	37	6	135787489	135787489	+	Missense_Mutation	SNP	A	A	G			TCGA-24-0975-01B-02W-0486-08	TCGA-24-0975-10B-01W-0486-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa9da8ab-3022-47ac-9f44-1304ac2cdd88	2722ccd7-af57-43d9-9d6e-79f3267fb43f	g.chr6:135787489A>G	ENST00000367800.4	-	5	428	c.212T>C	c.(211-213)cTt>cCt	p.L71P	AHI1_ENST00000457866.2_Missense_Mutation_p.L71P|AHI1_ENST00000327035.6_Missense_Mutation_p.L71P	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	71					cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)		p.L71P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		AATATGGGGAAGATTGCTTCT	0.328																																																1	Substitution - Missense(1)	ovary(1)	6											218.0	200.0	205.0					6																	135787489		1845	4098	5943	135829182	SO:0001583	missense	54806			AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"""WD repeat domain containing"""	21575	protein-coding gene	gene with protein product	"""Jouberin"""	608894	"""Abelson helper integration site"""			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.212T>C	6.37:g.135787489A>G	ENSP00000356774:p.Leu71Pro		135829182	E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Missense_Mutation	SNP	ENST00000367800.4	37	CCDS47483.1	.	.	.	.	.	.	.	.	.	.	A	6.679	0.493859	0.12702	.	.	ENSG00000135541	ENST00000367800;ENST00000457866;ENST00000265602;ENST00000327035;ENST00000367801;ENST00000524469	T;T;T;T;T	0.54675	0.8;0.8;0.8;1.63;0.56	5.37	-0.182	0.13287	.	0.660669	0.12963	N	0.424802	T	0.18923	0.0454	L	0.33485	1.01	0.80722	D	1	B;B	0.18461	0.028;0.016	B;B	0.19666	0.026;0.011	T	0.15694	-1.0428	10	0.66056	D	0.02	-0.9998	3.1018	0.06328	0.6368:0.1186:0.1306:0.114	.	71;71	Q8N157-2;Q8N157	.;AHI1_HUMAN	P	71;71;71;71;71;53	ENSP00000356774:L71P;ENSP00000388650:L71P;ENSP00000265602:L71P;ENSP00000322478:L71P;ENSP00000433063:L53P	ENSP00000265602:L71P	L	-	2	0	AHI1	135829182	1.000000	0.71417	0.437000	0.26809	0.002000	0.02628	2.207000	0.42788	0.100000	0.17581	-0.438000	0.05819	CTT		0.328	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651	
THSD7A	221981	broad.mit.edu	37	7	11419269	11419269	+	Silent	SNP	C	C	G	rs560502292	byFrequency	TCGA-24-0975-01B-02W-0486-08	TCGA-24-0975-10B-01W-0486-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa9da8ab-3022-47ac-9f44-1304ac2cdd88	2722ccd7-af57-43d9-9d6e-79f3267fb43f	g.chr7:11419269C>G	ENST00000423059.4	-	25	4829	c.4578G>C	c.(4576-4578)tcG>tcC	p.S1526S	AC004538.3_ENST00000421121.1_RNA|AC004538.3_ENST00000428967.1_RNA|AC004538.3_ENST00000445839.1_RNA|AC004538.3_ENST00000595972.1_RNA|AC004538.3_ENST00000599875.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1526					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S1526S(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CGCTACAGTACGAGTGGGGTT	0.493										HNSCC(18;0.044)																																						1	Substitution - coding silent(1)	ovary(1)	7											74.0	76.0	75.0					7																	11419269		2044	4184	6228	11385794	SO:0001819	synonymous_variant	221981				CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.4578G>C	7.37:g.11419269C>G			11385794		Silent	SNP	ENST00000423059.4	37	CCDS47543.1																																																																																				0.493	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2	
SPAM1	6677	broad.mit.edu	37	7	123593641	123593641	+	Missense_Mutation	SNP	T	T	G	rs151116153	byFrequency	TCGA-24-0975-01B-02W-0486-08	TCGA-24-0975-10B-01W-0486-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	fa9da8ab-3022-47ac-9f44-1304ac2cdd88	2722ccd7-af57-43d9-9d6e-79f3267fb43f	g.chr7:123593641T>G	ENST00000439500.1	+	4	630	c.17T>G	c.(16-18)tTc>tGc	p.F6C	SPAM1_ENST00000340011.5_Missense_Mutation_p.F6C|SPAM1_ENST00000460182.1_Missense_Mutation_p.F6C|SPAM1_ENST00000402183.2_Missense_Mutation_p.F6C|SPAM1_ENST00000223028.7_Missense_Mutation_p.F6C	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	6					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)	p.F6C(1)		breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GTGCTAAAATTCAAGCACATC	0.358																																																1	Substitution - Missense(1)	ovary(1)	7											71.0	68.0	69.0					7																	123593641		2203	4300	6503	123380877	SO:0001583	missense	6677			L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.17T>G	7.37:g.123593641T>G	ENSP00000402123:p.Phe6Cys		123380877	Q8TC30	Missense_Mutation	SNP	ENST00000439500.1	37	CCDS5791.1	.	.	.	.	.	.	.	.	.	.	T	12.20	1.866171	0.32977	.	.	ENSG00000106304	ENST00000402183;ENST00000413927;ENST00000460182;ENST00000340011;ENST00000439500;ENST00000223028	T;T;T;T;T;T	0.51325	2.42;0.71;2.42;2.39;2.42;2.42	6.02	4.86	0.63082	.	0.583545	0.19190	N	0.120457	T	0.39572	0.1083	L	0.52573	1.65	0.09310	N	1	B;B	0.20780	0.048;0.038	B;B	0.17433	0.018;0.013	T	0.35943	-0.9768	10	0.49607	T	0.09	-4.5789	6.4538	0.21918	0.2714:0.0:0.1413:0.5873	.	6;6	Q8TC30;P38567	.;HYALP_HUMAN	C	6	ENSP00000386028:F6C;ENSP00000391491:F6C;ENSP00000417934:F6C;ENSP00000345849:F6C;ENSP00000402123:F6C;ENSP00000223028:F6C	ENSP00000223028:F6C	F	+	2	0	SPAM1	123380877	0.002000	0.14202	0.001000	0.08648	0.267000	0.26476	1.328000	0.33758	1.073000	0.40885	0.528000	0.53228	TTC		0.358	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1		
GPR34	2857	broad.mit.edu	37	X	41555953	41555953	+	Missense_Mutation	SNP	C	C	G			TCGA-24-0975-01B-02W-0486-08	TCGA-24-0975-10B-01W-0486-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa9da8ab-3022-47ac-9f44-1304ac2cdd88	2722ccd7-af57-43d9-9d6e-79f3267fb43f	g.chrX:41555953C>G	ENST00000378142.4	+	3	1351	c.1067C>G	c.(1066-1068)aCt>aGt	p.T356S	CASK_ENST00000318588.9_Intron|GPR34_ENST00000378138.5_Missense_Mutation_p.T356S|CASK_ENST00000378158.1_Intron|CASK_ENST00000442742.2_Intron|CASK_ENST00000421587.2_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000378154.1_Intron|CASK_ENST00000361962.4_Intron|CASK_ENST00000378166.4_Intron	NM_001097579.1|NM_005300.3	NP_001091048.1|NP_005291.1	Q9UPC5	GPR34_HUMAN	G protein-coupled receptor 34	356					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.T356S(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						AGTGAAAGCACTTCAGAATTT	0.368																																																1	Substitution - Missense(1)	ovary(1)	X											56.0	49.0	52.0					X																	41555953		2203	4299	6502	41440897	SO:0001583	missense	2857			AF039686	CCDS14258.1	Xp11.4	2012-08-21			ENSG00000171659	ENSG00000171659		"""GPCR / Class A : Orphans"""	4490	protein-coding gene	gene with protein product		300241				10395919, 10036181	Standard	NM_005300		Approved		uc004dfq.4	Q9UPC5	OTTHUMG00000021375	ENST00000378142.4:c.1067C>G	X.37:g.41555953C>G	ENSP00000367384:p.Thr356Ser		41440897	O95853	Missense_Mutation	SNP	ENST00000378142.4	37	CCDS14258.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.409192	0.42715	.	.	ENSG00000171659	ENST00000378142;ENST00000378138;ENST00000535368	T;T	0.34667	1.35;1.35	5.83	5.83	0.93111	.	0.134585	0.49916	D	0.000130	T	0.30262	0.0759	L	0.32530	0.975	0.48762	D	0.999706	B	0.26483	0.15	B	0.19946	0.027	T	0.05818	-1.0862	10	0.19147	T	0.46	-21.4865	19.1239	0.93375	0.0:1.0:0.0:0.0	.	356	Q9UPC5	GPR34_HUMAN	S	356;356;309	ENSP00000367384:T356S;ENSP00000367378:T356S	ENSP00000367378:T356S	T	+	2	0	GPR34	41440897	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.211000	0.42825	2.467000	0.83353	0.591000	0.81541	ACT		0.368	GPR34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056264.1	NM_005300	
FAAH2	158584	broad.mit.edu	37	X	57473468	57473468	+	Silent	SNP	C	C	G			TCGA-24-0975-01B-02W-0486-08	TCGA-24-0975-10B-01W-0486-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	fa9da8ab-3022-47ac-9f44-1304ac2cdd88	2722ccd7-af57-43d9-9d6e-79f3267fb43f	g.chrX:57473468C>G	ENST00000374900.4	+	9	1344	c.1224C>G	c.(1222-1224)tcC>tcG	p.S408S	FAAH2_ENST00000491179.1_Intron	NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	408						integral component of membrane (GO:0016021)	carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|hydrolase activity (GO:0016787)	p.S408S(1)		endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						CCATCCCTTCCATTGGTATGT	0.398										HNSCC(52;0.14)																																						1	Substitution - coding silent(1)	ovary(1)	X											107.0	76.0	86.0					X																	57473468		2203	4300	6503	57490193	SO:0001819	synonymous_variant	158584			AK055766	CCDS14375.1	Xp11.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000165591	ENSG00000165591			26440	protein-coding gene	gene with protein product		300654	"""amidase domain containing"""	AMDD		17015445	Standard	NM_174912		Approved	RP11-479E16.1, FLJ31204, FAAH-2	uc004dvc.3	Q6GMR7	OTTHUMG00000021684	ENST00000374900.4:c.1224C>G	X.37:g.57473468C>G			57490193	Q86VT2|Q96N98	Silent	SNP	ENST00000374900.4	37	CCDS14375.1																																																																																				0.398	FAAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056919.1	NM_174912	
TFDP3	51270	broad.mit.edu	37	X	132351861	132351861	+	Missense_Mutation	SNP	C	C	G	rs199687528		TCGA-24-0975-01B-02W-0486-08	TCGA-24-0975-10B-01W-0486-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	fa9da8ab-3022-47ac-9f44-1304ac2cdd88	2722ccd7-af57-43d9-9d6e-79f3267fb43f	g.chrX:132351861C>G	ENST00000310125.4	-	1	515	c.427G>C	c.(427-429)Gct>Cct	p.A143P		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	143					cellular response to DNA damage stimulus (GO:0006974)|G1/S transition of mitotic cell cycle (GO:0000082)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A83P(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					TTGCTGGCAGCTCTGAACTTG	0.552																																																1	Substitution - Missense(1)	ovary(1)	X											88.0	82.0	84.0					X																	132351861		2202	4299	6501	132179527	SO:0001583	missense	51270			AF219119	CCDS14636.2	Xq26.2	2009-03-25			ENSG00000183434	ENSG00000183434			24603	protein-coding gene	gene with protein product	"""E2F-like protein"", ""cancer/testis antigen 30"""	300772				12097419	Standard	NM_016521		Approved	HCA661, E2F-like, CT30	uc004exb.1	Q5H9I0	OTTHUMG00000022433	ENST00000310125.4:c.427G>C	X.37:g.132351861C>G	ENSP00000385461:p.Ala143Pro		132179527	Q6DK49|Q9NZ54	Missense_Mutation	SNP	ENST00000310125.4	37	CCDS14636.2	.	.	.	.	.	.	.	.	.	.	c	11.31	1.601016	0.28534	.	.	ENSG00000183434	ENST00000310125	T	0.23552	1.9	0.226	0.226	0.15353	Transcription factor E2F/dimerisation partner (TDP) (1);Winged helix-turn-helix transcription repressor DNA-binding (1);	.	.	.	.	T	0.27731	0.0682	L	0.59436	1.845	0.41238	D	0.986629	P	0.38148	0.62	P	0.46885	0.53	T	0.12578	-1.0542	9	0.44086	T	0.13	.	3.0675	0.06219	0.4798:0.5199:2.0E-4:1.0E-4	.	143	Q5H9I0	TFDP3_HUMAN	P	143	ENSP00000385461:A143P	ENSP00000385461:A143P	A	-	1	0	TFDP3	132179527	1.000000	0.71417	0.036000	0.18154	0.037000	0.13140	1.616000	0.36933	0.283000	0.22279	0.287000	0.19450	GCT		0.552	TFDP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058337.1	NM_016521	
