#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
CT83	203413	broad.mit.edu	37	X	115592946	115592946	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chrX:115592946C>T	ENST00000371894.4	-	2	450	c.304G>A	c.(304-306)Ggt>Agt	p.G102S		NM_001017978.2	NP_001017978.1	Q5H943	KKLC1_HUMAN		102						integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|large_intestine(3)|lung(8)	12						CCTCTGAAACCCTTGCTAAGT	0.423																																						uc004eqj.1																			0				breast(1)|large_intestine(3)|lung(8)	12						c.(304-306)Ggt>Agt		Homo sapiens chromosome X open reading frame 61 (CXorf61), mRNA.							177.0	148.0	158.0					X																	115592946		2203	4300	6503	SO:0001583	missense	203413					integral to membrane|plasma membrane		g.chrX:115592946C>T																												ENST00000371894.4:c.304G>A	X.37:g.115592946C>T	ENSP00000360961:p.Gly102Ser						p.G102S	NM_001017978	NP_001017978	Q5H943	KKLC1_HUMAN			1	424	-			102						Missense_Mutation	SNP	ENST00000371894.4	37	c.304G>A	CCDS35372.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.950881	0.53186	.	.	ENSG00000204019	ENST00000371894	.	.	.	5.2	2.41	0.29592	.	1.038250	0.07679	N	0.936756	T	0.28001	0.0690	L	0.27053	0.805	0.09310	N	1	P	0.41102	0.738	B	0.42593	0.392	T	0.19549	-1.0302	9	0.51188	T	0.08	0.1608	4.7947	0.13267	0.0:0.6226:0.1752:0.2022	.	102	Q5H943	KKLC1_HUMAN	S	102	.	ENSP00000360961:G102S	G	-	1	0	CXorf61	115506974	0.000000	0.05858	0.002000	0.10522	0.020000	0.10135	0.044000	0.13992	0.572000	0.29383	0.534000	0.68092	GGT		0.423	CXorf61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057985.1			4	190	0	0	0	1	0	4	190				
ABCA3	21	broad.mit.edu	37	16	2331127	2331127	+	Silent	SNP	G	G	A	rs373102317		TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr16:2331127G>A	ENST00000301732.5	-	28	4960	c.4260C>T	c.(4258-4260)gcC>gcT	p.A1420A	ABCA3_ENST00000382381.3_Silent_p.A1362A	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1420	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	TGGTCTTCCCGGCTCCATTGA	0.617													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17725	0.0		0.0	False		,,,				2504	0.0					uc002cpy.1																			0				breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70						c.(4258-4260)gcC>gcT		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.		G		0,4396		0,0,2198	103.0	95.0	98.0		4260	-11.5	0.1	16		98	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ABCA3	NM_001089.2		0,1,6497	AA,AG,GG		0.0116,0.0,0.0077		1420/1705	2331127	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2331127G>A	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.4260C>T	16.37:g.2331127G>A						ABCA3_uc010bsk.1_Silent_p.A1362A	p.A1420A	NM_001089	NP_001080	Q99758	ABCA3_HUMAN			27	4972	-		Ovarian(90;0.17)	1420			ABC transporter 2.		B2RU09|Q54A95|Q6P5P9|Q92473	Silent	SNP	ENST00000301732.5	37	c.4260C>T	CCDS10466.1																																																																																				0.617	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		4	100	0	0	0	1	0	4	100				
PLCE1	51196	broad.mit.edu	37	10	95849061	95849061	+	Intron	SNP	C	C	T			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr10:95849061C>T	ENST00000371380.3	+	2	1441				PLCE1_ENST00000371385.3_Silent_p.F70F|PLCE1_ENST00000371375.1_Silent_p.F70F|RP11-429H9.4_ENST00000438899.1_RNA|PLCE1_ENST00000260766.3_Intron			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1						activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GTTGGCTCTTCCCGCTCTCTG	0.512																																						uc001kjm.3																			0				liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8						c.(208-210)ttC>ttT		Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 2, mRNA.							159.0	143.0	148.0					10																	95849061		1568	3582	5150	SO:0001627	intron_variant	51196				Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity	g.chr10:95849061C>T		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.1207-42870C>T	10.37:g.95849061C>T						PLCE1_uc001kjk.3_Intron|PLCE1_uc010qnx.2_Intron|BC035380_uc001kjl.1_Intron	p.F70F	NM_001165979	NP_001159451	Q9P212	PLCE1_HUMAN			0	232	+		Colorectal(252;0.0458)	0					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Silent	SNP	ENST00000371380.3	37	c.210C>T	CCDS41552.1																																																																																				0.512	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		59	106	0	0	0	1	0	59	106				
ZNF234	10780	broad.mit.edu	37	19	44661248	44661248	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr19:44661248A>G	ENST00000426739.2	+	6	1337	c.1079A>G	c.(1078-1080)cAg>cGg	p.Q360R	ZNF234_ENST00000592437.1_Missense_Mutation_p.Q360R	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	360					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q360R(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				TCACAATTTCAGGCCCATCGG	0.443																																						uc002oym.3																			1	Substitution - Missense(1)	p.Q360R(2)	lung(1)	endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23						c.(1078-1080)cAg>cGg		Homo sapiens zinc finger protein 234 (ZNF234), transcript variant 1, mRNA.							58.0	62.0	61.0					19																	44661248		2136	4273	6409	SO:0001583	missense	10780				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44661248A>G	X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002		"""Zinc fingers, C2H2-type"", ""-"""	13027	protein-coding gene	gene with protein product		604750		ZNF269		7865130	Standard	NM_006630		Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.1079A>G	19.37:g.44661248A>G	ENSP00000400878:p.Gln360Arg					ZNF234_uc002oyl.4_Missense_Mutation_p.Q360R	p.Q360R	NM_006630	NP_006621	Q14588	ZN234_HUMAN			5	1386	+		Prostate(69;0.0435)	360					A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Missense_Mutation	SNP	ENST00000426739.2	37	c.1079A>G	CCDS46101.1	.	.	.	.	.	.	.	.	.	.	A	4.181	0.032106	0.08101	.	.	ENSG00000167380	ENST00000426739	T	0.11930	2.73	4.12	-0.786	0.10946	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04407	0.0121	N	0.04148	-0.265	0.09310	N	1	B	0.15141	0.012	B	0.14578	0.011	T	0.41305	-0.9516	9	0.25751	T	0.34	.	0.0834	0.00033	0.2898:0.2494:0.1907:0.2701	.	360	Q14588	ZN234_HUMAN	R	360	ENSP00000400878:Q360R	ENSP00000400878:Q360R	Q	+	2	0	ZNF226	49353088	0.000000	0.05858	0.001000	0.08648	0.750000	0.42670	-3.103000	0.00603	-0.033000	0.13736	0.482000	0.46254	CAG		0.443	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460586.2			3	39	0	0	0	1	0	3	39				
THOC1	9984	broad.mit.edu	37	18	265318	265318	+	Missense_Mutation	SNP	A	A	C			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr18:265318A>C	ENST00000261600.6	-	3	181	c.174T>G	c.(172-174)atT>atG	p.I58M	RP11-705O1.8_ENST00000581677.1_lincRNA|THOC1_ENST00000582313.1_5'UTR	NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN	THO complex 1	58					apoptotic process (GO:0006915)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of isotype switching to IgA isotypes (GO:0048297)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|regulation of DNA recombination (GO:0000018)|regulation of DNA-templated transcription, elongation (GO:0032784)|replication fork processing (GO:0031297)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				CTTCTTCTAGAATACCTCTGA	0.269																																						uc002kkj.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20						c.(172-174)atT>atG		Homo sapiens THO complex 1 (THOC1), mRNA.							43.0	41.0	42.0					18																	265318		1790	4061	5851	SO:0001583	missense	9984				RNA splicing|apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|signal transduction|transcription, DNA-dependent	THO complex part of transcription export complex|cytoplasm|nuclear matrix|nuclear speck	DNA binding|RNA binding|protein binding	g.chr18:265318A>C	AK055354	CCDS45820.1	18p11.32	2013-02-11			ENSG00000079134	ENSG00000079134		"""THO complex subunits"""	19070	protein-coding gene	gene with protein product		606930				11979277	Standard	NM_005131		Approved	P84, HPR1	uc002kkj.4	Q96FV9		ENST00000261600.6:c.174T>G	18.37:g.265318A>C	ENSP00000261600:p.Ile58Met					THOC1_uc002kkl.2_Missense_Mutation_p.I58M	p.I58M	NM_005131	NP_005122	Q96FV9	THOC1_HUMAN			2	214	-		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)	58					B2RBP6|Q15219|Q64I72|Q64I73	Missense_Mutation	SNP	ENST00000261600.6	37	c.174T>G	CCDS45820.1	.	.	.	.	.	.	.	.	.	.	A	7.914	0.737225	0.15574	.	.	ENSG00000079134	ENST00000261600	.	.	.	5.93	0.82	0.18793	.	0.187185	0.45867	D	0.000327	T	0.16599	0.0399	N	0.08118	0	0.21147	N	0.999774	B;B	0.23806	0.091;0.022	B;B	0.28232	0.087;0.027	T	0.15150	-1.0447	9	0.40728	T	0.16	-6.9234	5.4798	0.16717	0.6211:0.0:0.2629:0.116	.	58;58	Q96FV9-2;Q96FV9	.;THOC1_HUMAN	M	58	.	ENSP00000261600:I58M	I	-	3	3	THOC1	255318	1.000000	0.71417	0.997000	0.53966	0.931000	0.56810	3.131000	0.50515	-0.079000	0.12707	-1.617000	0.00794	ATT		0.269	THOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440348.5	NM_005131		7	14	0	0	0	1	0	7	14				
EZH1	2145	broad.mit.edu	37	17	40857116	40857116	+	Missense_Mutation	SNP	T	T	A			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr17:40857116T>A	ENST00000428826.2	-	17	2046	c.1925A>T	c.(1924-1926)tAc>tTc	p.Y642F	EZH1_ENST00000415827.2_Missense_Mutation_p.Y633F|EZH1_ENST00000435174.1_Missense_Mutation_p.Y503F|EZH1_ENST00000590783.1_5'UTR|EZH1_ENST00000585893.1_Missense_Mutation_p.Y602F|EZH1_ENST00000590078.1_Missense_Mutation_p.Y572F|EZH1_ENST00000592743.1_Missense_Mutation_p.Y642F			Q92800	EZH1_HUMAN	enhancer of zeste 1 polycomb repressive complex 2 subunit	642	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				anatomical structure morphogenesis (GO:0009653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		CTCACCACAGTATTCAGAAAT	0.507																																						uc010wgu.2																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27						c.(1942-1944)tAc>tTc		Homo sapiens enhancer of zeste homolog 1 (Drosophila) (EZH1), mRNA.							89.0	85.0	86.0					17																	40857116		2203	4300	6503	SO:0001583	missense	2145				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|chromatin binding	g.chr17:40857116T>A		CCDS32659.1	17q21.1-q21.3	2014-05-28	2014-05-28			ENSG00000108799		"""Chromatin-modifying enzymes / K-methyltransferases"""	3526	protein-coding gene	gene with protein product		601674	"""enhancer of zeste (Drosophila) homolog 1"", ""enhancer of zeste homolog 1 (Drosophila)"""			8921387	Standard	NM_001991		Approved	KIAA0388, KMT6B	uc002iaz.3	Q92800		ENST00000428826.2:c.1925A>T	17.37:g.40857116T>A	ENSP00000404658:p.Tyr642Phe					EZH1_uc002iaz.3_Missense_Mutation_p.Y642F|EZH1_uc002iba.3_Missense_Mutation_p.Y633F|EZH1_uc010wgt.2_Missense_Mutation_p.Y572F|EZH1_uc010wgv.2_Missense_Mutation_p.Y602F|EZH1_uc010wgw.2_Missense_Mutation_p.Y503F|EZH1_uc010cyp.2_Missense_Mutation_p.Y543F|EZH1_uc010cyq.2_Missense_Mutation_p.Y559F|EZH1_uc010cyo.1_Missense_Mutation_p.Y305F	p.Y648F	NM_001991	NP_001982	Q92800	EZH1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0784)	15	1979	-		Breast(137;0.00104)	642			SET.		A6NCH6|B4DIJ1|B4DIZ7|B4DSS2|B4E3R7|O43287|Q14459|Q53XP3	Missense_Mutation	SNP	ENST00000428826.2	37	c.1943A>T	CCDS32659.1	.	.	.	.	.	.	.	.	.	.	T	28.6	4.938478	0.92526	.	.	ENSG00000108799	ENST00000264646;ENST00000428826;ENST00000415827;ENST00000435174	D;D	0.84800	-1.9;-1.9	5.41	5.41	0.78517	SET domain (3);	0.114193	0.64402	D	0.000007	D	0.94122	0.8115	M	0.93898	3.47	0.80722	D	1	D;D;D;D;D	0.71674	0.997;0.998;0.998;0.998;0.998	D;D;D;D;D	0.75020	0.959;0.974;0.974;0.974;0.985	D	0.95511	0.8586	10	0.87932	D	0	.	15.5994	0.76613	0.0:0.0:0.0:1.0	.	503;602;648;572;642	Q92800-5;Q92800-3;Q92800-2;Q92800-4;Q92800	.;.;.;.;EZH1_HUMAN	F	645;642;602;503	ENSP00000404658:Y642F;ENSP00000404071:Y503F	ENSP00000264646:Y645F	Y	-	2	0	EZH1	38110642	1.000000	0.71417	0.975000	0.42487	0.987000	0.75469	7.864000	0.87037	2.261000	0.74972	0.460000	0.39030	TAC		0.507	EZH1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452347.1	NM_001991		26	64	0	0	0	1	0	26	64				
MAP3K19	80122	broad.mit.edu	37	2	135744495	135744495	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr2:135744495C>G	ENST00000375845.3	-	7	1977	c.1947G>C	c.(1945-1947)atG>atC	p.M649I	MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.M666I|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.M536I|MAP3K19_ENST00000392918.3_Intron	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	649							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										TTTCTTTGAACATATCACTAT	0.393																																						uc002tue.1																			0		p.A649T(1)		breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1945-1947)atG>atC		Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.							129.0	132.0	131.0					2																	135744495		2203	4300	6503	SO:0001583	missense	80122						ATP binding|protein serine/threonine kinase activity	g.chr2:135744495C>G	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.1947G>C	2.37:g.135744495C>G	ENSP00000365005:p.Met649Ile					YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.M536I|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_Missense_Mutation_p.M377I|YSK4_uc002tui.4_Missense_Mutation_p.M666I	p.M649I	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	6	1978	-			649					B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	c.1947G>C	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	C	18.18	3.566222	0.65651	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915;ENST00000437365	T;T;T;T	0.79749	-1.3;-1.22;1.04;-1.28	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000006	D	0.85605	0.5735	L	0.47190	1.495	0.80722	D	1	D;D;D	0.60575	0.976;0.988;0.959	P;D;P	0.66351	0.81;0.943;0.65	D	0.86518	0.1814	10	0.87932	D	0	.	14.5995	0.68429	0.1458:0.8542:0.0:0.0	.	536;666;649	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	I	649;536;666;39	ENSP00000365005:M649I;ENSP00000351140:M536I;ENSP00000376647:M666I;ENSP00000392827:M39I	ENSP00000351140:M536I	M	-	3	0	YSK4	135460965	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	4.538000	0.60650	2.667000	0.90743	0.561000	0.74099	ATG		0.393	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		3	221	0	0	0	1	0	3	221				
TM9SF4	9777	broad.mit.edu	37	20	30745657	30745657	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr20:30745657G>A	ENST00000398022.2	+	14	1625	c.1390G>A	c.(1390-1392)Gtc>Atc	p.V464I	TM9SF4_ENST00000217315.5_Missense_Mutation_p.V447I	NM_014742.3	NP_055557.2	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	464						integral component of membrane (GO:0016021)				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CCTGCCCCTCGTCTACTTGGG	0.602																																						uc002wxj.2																			0				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1390-1392)Gtc>Atc		Homo sapiens transmembrane 9 superfamily protein member 4 (TM9SF4), mRNA.							175.0	162.0	166.0					20																	30745657		2203	4300	6503	SO:0001583	missense	9777					integral to membrane		g.chr20:30745657G>A	BC021107	CCDS13196.2	20q11.21	2004-04-19			ENSG00000101337	ENSG00000101337			30797	protein-coding gene	gene with protein product						9039502	Standard	NM_014742		Approved	KIAA0255, dJ836N17.2	uc002wxj.2	Q92544	OTTHUMG00000032206	ENST00000398022.2:c.1390G>A	20.37:g.30745657G>A	ENSP00000381104:p.Val464Ile					TM9SF4_uc010zts.1_Missense_Mutation_p.V371I|TM9SF4_uc002wxk.2_Missense_Mutation_p.V447I	p.V464I	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		13	1625	+			464					B0QYT7|Q9NUA3	Missense_Mutation	SNP	ENST00000398022.2	37	c.1390G>A	CCDS13196.2	.	.	.	.	.	.	.	.	.	.	G	27.6	4.844123	0.91197	.	.	ENSG00000101337	ENST00000398022;ENST00000217315	T;T	0.44881	0.91;0.91	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.51210	0.1661	L	0.52905	1.665	0.80722	D	1	P;P	0.51933	0.949;0.887	P;P	0.50791	0.65;0.591	T	0.51100	-0.8748	10	0.46703	T	0.11	-31.5818	18.4218	0.90594	0.0:0.0:1.0:0.0	.	371;464	B4DH88;Q92544	.;TM9S4_HUMAN	I	464;447	ENSP00000381104:V464I;ENSP00000217315:V447I	ENSP00000217315:V447I	V	+	1	0	TM9SF4	30209318	1.000000	0.71417	0.990000	0.47175	0.996000	0.88848	5.441000	0.66569	2.572000	0.86782	0.655000	0.94253	GTC		0.602	TM9SF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323568.1	NM_014742		67	132	0	0	0	1	0	67	132				
SMARCA5	8467	broad.mit.edu	37	4	144466691	144466691	+	Silent	SNP	A	A	G			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr4:144466691A>G	ENST00000283131.3	+	18	2814	c.2352A>G	c.(2350-2352)ttA>ttG	p.L784L		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	784					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					TATTTGAATTACTGGAAAAAG	0.338																																						uc003ijg.3																		EWSR1/SMARCA5(2)	0				endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(2350-2352)ttA>ttG		Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 (SMARCA5), mRNA.							64.0	69.0	67.0					4																	144466691		2203	4300	6503	SO:0001819	synonymous_variant	8467				CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	NURF complex|RSF complex|condensed chromosome|nucleolus|nucleoplasm	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding	g.chr4:144466691A>G	AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147			11101	protein-coding gene	gene with protein product		603375				9730600	Standard	NM_003601		Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474	ENST00000283131.3:c.2352A>G	4.37:g.144466691A>G							p.L784L	NM_003601	NP_003592	O60264	SMCA5_HUMAN			17	2814	+	all_hematologic(180;0.158)		784						Silent	SNP	ENST00000283131.3	37	c.2352A>G	CCDS3761.1																																																																																				0.338	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365077.3			3	68	0	0	0	1	0	3	68				
PFKP	5214	broad.mit.edu	37	10	3177999	3177999	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr10:3177999G>A	ENST00000381125.4	+	21	2270	c.2194G>A	c.(2194-2196)Gtg>Atg	p.V732M	PITRM1_ENST00000464395.1_5'Flank|PFKP_ENST00000381072.1_Missense_Mutation_p.V150M|PFKP_ENST00000381075.2_Missense_Mutation_p.V724M	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet	732	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein complex binding (GO:0032403)			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		TTTTCAACCTGTGGCAGAGCT	0.398																																						uc001igp.3																			0				breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(2194-2196)Gtg>Atg		Homo sapiens phosphofructokinase, platelet (PFKP), transcript variant 1, mRNA.							78.0	77.0	77.0					10																	3177999		2203	4300	6503	SO:0001583	missense	5214				glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding	g.chr10:3177999G>A	AK092597	CCDS7059.1, CCDS55698.1	10p15.3-p15.2	2006-08-25			ENSG00000067057	ENSG00000067057	2.7.1.11		8878	protein-coding gene	gene with protein product	"""Phosphofructokinase, platelet type"""	171840					Standard	NM_002627		Approved	PFK-C, PFKF	uc001igp.3	Q01813	OTTHUMG00000017556	ENST00000381125.4:c.2194G>A	10.37:g.3177999G>A	ENSP00000370517:p.Val732Met					PFKP_uc001igq.3_Missense_Mutation_p.V724M|PFKP_uc009xhr.3_Missense_Mutation_p.V694M|PFKP_uc009xht.3_Missense_Mutation_p.V470M|PFKP_uc009xhu.3_Missense_Mutation_p.V238M	p.V732M	NM_002627	NP_002618	Q01813	K6PP_HUMAN		GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)	20	2270	+			732					B3KS15|Q5VSR7|Q5VSR8	Missense_Mutation	SNP	ENST00000381125.4	37	c.2194G>A	CCDS7059.1	.	.	.	.	.	.	.	.	.	.	g	8.074	0.770979	0.15983	.	.	ENSG00000067057	ENST00000381125;ENST00000397834;ENST00000381075;ENST00000381072	T;T;T	0.80909	-1.43;-1.43;-1.43	4.92	4.01	0.46588	Phosphofructokinase domain (1);	0.061361	0.64402	D	0.000004	D	0.85729	0.5764	M	0.64170	1.965	0.58432	D	0.999992	D;D;D	0.63046	0.978;0.978;0.992	P;P;P	0.58620	0.833;0.833;0.842	D	0.86571	0.1847	10	0.56958	D	0.05	.	15.0356	0.71744	0.0:0.152:0.848:0.0	.	724;724;732	B3KS15;Q5VSR7;Q01813	.;.;K6PP_HUMAN	M	732;721;724;150	ENSP00000370517:V732M;ENSP00000370465:V724M;ENSP00000370462:V150M	ENSP00000370462:V150M	V	+	1	0	PFKP	3167999	1.000000	0.71417	0.708000	0.30435	0.424000	0.31475	4.233000	0.58651	1.052000	0.40392	0.462000	0.41574	GTG		0.398	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046454.1	NM_002627		4	68	0	0	0	1	0	4	68				
ATP2A2	488	broad.mit.edu	37	12	110765417	110765417	+	Silent	SNP	C	C	T	rs143310856		TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr12:110765417C>T	ENST00000539276.2	+	8	799	c.690C>T	c.(688-690)acC>acT	p.T230T	ATP2A2_ENST00000395494.2_Silent_p.T203T|ATP2A2_ENST00000308664.6_Silent_p.T230T			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	230					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						GAGTTAACACCGAAATTGGCA	0.463													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20817	0.0		0.0	False		,,,				2504	0.0					uc001tqk.4																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						c.(688-690)acC>acT		Homo sapiens ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 (ATP2A2), transcript variant b, mRNA.							192.0	189.0	190.0					12																	110765417		2203	4300	6503	SO:0001819	synonymous_variant	488				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|S100 alpha binding|calcium-transporting ATPase activity|protein C-terminus binding	g.chr12:110765417C>T		CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"""ATPases / P-type"""	812	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 2"", ""calcium pump 2"""	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.690C>T	12.37:g.110765417C>T						ATP2A2_uc001tql.4_Silent_p.T230T|ATP2A2_uc021rdt.1_Silent_p.T78T	p.T230T	NM_170665	NP_733765	P16615	AT2A2_HUMAN			7	1253	+			230					A6NDN7|B4DF05|P16614|Q86VJ2	Silent	SNP	ENST00000539276.2	37	c.690C>T	CCDS9144.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	9.178	1.022761	0.19433	.	.	ENSG00000174437	ENST00000548169	.	.	.	5.38	-7.11	0.01542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3355	0.00325	0.3721:0.1715:0.1807:0.2757	.	.	.	.	X	121	.	.	R	+	1	2	ATP2A2	109249800	0.216000	0.23585	0.883000	0.34634	0.994000	0.84299	-0.625000	0.05534	-1.462000	0.01907	-0.397000	0.06425	CGA		0.463	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	NM_001681		7	251	0	0	0	1	0	7	251				
DCST2	127579	broad.mit.edu	37	1	155004126	155004126	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr1:155004126C>T	ENST00000368424.3	-	4	721	c.663G>A	c.(661-663)atG>atA	p.M221I	DCST2_ENST00000295536.5_Missense_Mutation_p.M221I|DCST1_ENST00000368419.2_5'Flank|DCST1_ENST00000423025.2_5'Flank|DCST1_ENST00000295542.1_5'Flank|DCST1_ENST00000392480.1_5'Flank	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	221						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GTATGACCATCATGCAGCTGT	0.567																																						uc001fgm.3																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38						c.(661-663)atG>atA		Homo sapiens DC-STAMP domain containing 2 (DCST2), mRNA.							156.0	119.0	131.0					1																	155004126		2203	4300	6503	SO:0001583	missense	127579					integral to membrane		g.chr1:155004126C>T	AK057496	CCDS1082.2	1q22	2008-02-05		2005-08-09	ENSG00000163354	ENSG00000163354			26562	protein-coding gene	gene with protein product							Standard	NM_144622		Approved	FLJ32934	uc001fgm.3	Q5T1A1	OTTHUMG00000037371	ENST00000368424.3:c.663G>A	1.37:g.155004126C>T	ENSP00000357409:p.Met221Ile					DCST2_uc009wpb.3_Non-coding_Transcript|DCST1_uc010per.2_5'Flank|DCST1_uc001fgn.2_5'Flank|DCST1_uc010pes.2_5'Flank	p.M221I	NM_144622	NP_653223	Q5T1A1	DCST2_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		3	743	-	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		221					Q2M2R2|Q8N810|Q96M03	Missense_Mutation	SNP	ENST00000368424.3	37	c.663G>A	CCDS1082.2	.	.	.	.	.	.	.	.	.	.	C	11.75	1.731635	0.30684	.	.	ENSG00000163354	ENST00000368424;ENST00000295536	T;T	0.24350	1.86;1.9	5.67	5.67	0.87782	.	0.359362	0.27720	N	0.018138	T	0.11410	0.0278	L	0.34521	1.04	0.30688	N	0.751622	B	0.25667	0.131	B	0.21546	0.035	T	0.05533	-1.0879	10	0.44086	T	0.13	-32.209	16.674	0.85274	0.0:1.0:0.0:0.0	.	221	Q5T1A1	DCST2_HUMAN	I	221	ENSP00000357409:M221I;ENSP00000295536:M221I	ENSP00000295536:M221I	M	-	3	0	DCST2	153270750	0.985000	0.35326	0.921000	0.36526	0.026000	0.11368	2.745000	0.47459	2.678000	0.91216	0.655000	0.94253	ATG		0.567	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090953.3	NM_144622		10	112	0	0	0	1	0	10	112				
RIMS1	22999	broad.mit.edu	37	6	72968798	72968798	+	Missense_Mutation	SNP	T	T	G			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr6:72968798T>G	ENST00000521978.1	+	18	3037	c.3037T>G	c.(3037-3039)Tta>Gta	p.L1013V	RIMS1_ENST00000518273.1_Missense_Mutation_p.L1013V|RIMS1_ENST00000538414.1_5'UTR|RIMS1_ENST00000517827.1_Missense_Mutation_p.L472V|RIMS1_ENST00000520567.1_Missense_Mutation_p.L1012V|RIMS1_ENST00000522291.1_Missense_Mutation_p.L1012V|RIMS1_ENST00000523963.1_Missense_Mutation_p.L487V|RIMS1_ENST00000491071.2_Missense_Mutation_p.L1013V|RIMS1_ENST00000264839.7_Missense_Mutation_p.L1013V|RIMS1_ENST00000425662.2_Missense_Mutation_p.L406V|RIMS1_ENST00000348717.5_Missense_Mutation_p.L1012V|RIMS1_ENST00000401910.3_Missense_Mutation_p.L486V|RIMS1_ENST00000517960.1_Missense_Mutation_p.L1012V	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1013					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TAGTCAGTATTTATCAGAACA	0.363																																						uc003pga.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102						c.(3037-3039)Tta>Gta		Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.							104.0	102.0	103.0					6																	72968798		1889	4113	6002	SO:0001583	missense	22999				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding	g.chr6:72968798T>G	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.3037T>G	6.37:g.72968798T>G	ENSP00000428417:p.Leu1013Val					RIMS1_uc011dyb.2_Missense_Mutation_p.L638V|RIMS1_uc003pgc.3_Missense_Mutation_p.L639V|RIMS1_uc010kaq.3_Missense_Mutation_p.L486V|RIMS1_uc011dyc.2_Missense_Mutation_p.L487V|RIMS1_uc010kar.3_Missense_Mutation_p.L406V|RIMS1_uc011dyd.2_Missense_Mutation_p.L472V|RIMS1_uc003pge.3_Missense_Mutation_p.L230V|RIMS1_uc003pgf.3_Missense_Mutation_p.L229V|RIMS1_uc003pgi.3_Missense_Mutation_p.L229V|RIMS1_uc003pgg.3_Missense_Mutation_p.L230V|RIMS1_uc003pgh.3_Missense_Mutation_p.L229V|RIMS1_uc003pgd.3_Missense_Mutation_p.L230V|RIMS1_uc011dye.2_5'UTR|RIMS1_uc011dyf.2_5'Flank|RIMS1_uc003pgb.4_Missense_Mutation_p.L639V|RIMS1_uc010kas.1_Missense_Mutation_p.L472V	p.L1013V	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN			17	3114	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	1013					A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	c.3037T>G	CCDS47449.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	11.79|11.79|11.79	1.743339|1.743339|1.743339	0.30865|0.30865|0.30865	.|.|.	.|.|.	ENSG00000079841|ENSG00000079841|ENSG00000079841	ENST00000517433|ENST00000522211|ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000425662;ENST00000453976;ENST00000517827;ENST00000370420	.|.|T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|.|0.17370	.|.|2.55;2.62;2.59;2.62;2.68;2.69;2.6;2.59;2.68;2.69;2.68;2.46;2.67;2.28	5.83|5.83|5.83	4.67|4.67|4.67	0.58626|0.58626|0.58626	.|.|.	.|.|0.120924	.|.|0.36555	.|.|N	.|.|0.002523	T|T|T	0.16214|0.16214|0.16214	0.0390|0.0390|0.0390	L|L|L	0.34521|0.34521|0.34521	1.04|1.04|1.04	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|B;B;B;P;B;P;B;B;D;B;P;P	.|.|0.58268	.|.|0.035;0.256;0.437;0.633;0.005;0.745;0.204;0.047;0.982;0.003;0.58;0.77	.|.|B;B;B;B;B;B;B;B;D;B;B;B	.|.|0.67548	.|.|0.01;0.052;0.207;0.184;0.006;0.276;0.046;0.024;0.952;0.01;0.137;0.207	T|T|T	0.02512|0.02512|0.02512	-1.1148|-1.1148|-1.1148	5|5|10	.|.|0.33940	.|.|T	.|.|0.23	-4.754|-4.754|-4.754	12.0236|12.0236|12.0236	0.53358|0.53358|0.53358	0.0:0.0674:0.0:0.9326|0.0:0.0674:0.0:0.9326|0.0:0.0674:0.0:0.9326	.|.|.	.|.|472;487;1013;472;486;1012;265;1013;1012;266;1013;1013	.|.|B7Z3S3;E9PHF5;E9PHR1;B7Z9Z3;E9PF48;E7EX08;Q5JY22;E7ERQ1;E7ENC2;Q5JY21;C9JNW6;Q86UR5	.|.|.;.;.;.;.;.;.;.;.;.;.;RIMS1_HUMAN	C|M|V	586|103|1013;1013;1013;1012;1013;1012;1013;1012;1013;1012;1012;1013;486;487;406;406;472;238	.|.|ENSP00000430101:L1013V;ENSP00000275037:L1012V;ENSP00000264839:L1013V;ENSP00000429959:L1012V;ENSP00000430408:L1013V;ENSP00000430502:L1012V;ENSP00000430932:L1012V;ENSP00000428417:L1013V;ENSP00000385649:L486V;ENSP00000428328:L487V;ENSP00000411235:L406V;ENSP00000389503:L406V;ENSP00000428367:L472V;ENSP00000359448:L238V	.|.|ENSP00000264839:L1013V	F|I|L	+|+|+	2|3|1	0|3|2	RIMS1|RIMS1|RIMS1	73025519|73025519|73025519	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.880000|0.880000|0.880000	0.50808|0.50808|0.50808	2.470000|2.470000|2.470000	0.45119|0.45119|0.45119	1.035000|1.035000|1.035000	0.39972|0.39972|0.39972	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	TTT|ATT|TTA		0.363	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			20	37	0	0	0	1	0	20	37				
SPIN4	139886	broad.mit.edu	37	X	62570519	62570519	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chrX:62570519C>A	ENST00000335144.3	-	1	699	c.180G>T	c.(178-180)aaG>aaT	p.K60N	SPIN4-AS1_ENST00000451979.1_RNA|SPIN4_ENST00000374884.2_Missense_Mutation_p.K42N	NM_001012968.2	NP_001012986.2	Q56A73	SPIN4_HUMAN	spindlin family, member 4	60					gamete generation (GO:0007276)					endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	11						GCACAGTACCCTTCCACTGCT	0.522																																						uc004dvf.3																			0				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(178-180)aaG>aaT		Homo sapiens spindlin family, member 4 (SPIN4), mRNA.							47.0	46.0	47.0					X																	62570519		2060	4170	6230	SO:0001583	missense	139886				gamete generation			g.chrX:62570519C>A	AK126931	CCDS43964.1	Xq11.1	2008-02-05			ENSG00000186767	ENSG00000186767			27040	protein-coding gene	gene with protein product						12477932	Standard	NM_001012968		Approved	FLJ44984	uc004dvf.3	Q56A73	OTTHUMG00000021696	ENST00000335144.3:c.180G>T	X.37:g.62570519C>A	ENSP00000334163:p.Lys60Asn						p.K60N	NM_001012968	NP_001012986	Q56A73	SPIN4_HUMAN			0	700	-			60					B3KX90|Q5JUL2	Missense_Mutation	SNP	ENST00000335144.3	37	c.180G>T	CCDS43964.1	.	.	.	.	.	.	.	.	.	.	.	16.20	3.056450	0.55325	.	.	ENSG00000186767	ENST00000374884;ENST00000335144	T;T	0.49139	0.79;0.79	3.9	1.13	0.20643	.	0.000000	0.85682	D	0.000000	T	0.51193	0.1660	M	0.73962	2.25	0.47778	D	0.99951	P	0.50066	0.931	P	0.50352	0.638	T	0.47420	-0.9119	10	0.52906	T	0.07	-21.5786	6.1669	0.20396	0.0:0.5264:0.0:0.4736	.	60	Q56A73	SPIN4_HUMAN	N	42;60	ENSP00000364018:K42N;ENSP00000334163:K60N	ENSP00000334163:K60N	K	-	3	2	SPIN4	62487244	0.604000	0.26932	0.990000	0.47175	0.909000	0.53808	0.013000	0.13310	0.104000	0.17725	0.422000	0.28245	AAG		0.522	SPIN4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001012968		3	20	0	0	0	1	0	3	20				
CD40LG	959	broad.mit.edu	37	X	135741330	135741330	+	Missense_Mutation	SNP	G	G	A	rs11575982	byFrequency	TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chrX:135741330G>A	ENST00000370629.2	+	5	598	c.542G>A	c.(541-543)cGg>cAg	p.R181Q	CD40LG_ENST00000370628.2_Missense_Mutation_p.R160Q	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	181					B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|immunoglobulin secretion (GO:0048305)|inflammatory response (GO:0006954)|isotype switching (GO:0045190)|leukocyte cell-cell adhesion (GO:0007159)|negative regulation of apoptotic process (GO:0043066)|platelet activation (GO:0030168)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of interleukin-12 production (GO:0032735)|regulation of immune response (GO:0050776)|regulation of immunoglobulin secretion (GO:0051023)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	CD40 receptor binding (GO:0005174)	p.R181L(2)		endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)					TGTTCCAATCGGGAAGCTTCG	0.463									Immune Deficiency with Hyper-IgM				G|||	22	0.00582781	0.0	0.0	3775	,	,		14855	0.002		0.0	False		,,,				2504	0.0204					uc004faa.3																			2	Substitution - Missense(2)	p.R181L(4)	lung(2)	endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26						c.(541-543)cGg>cAg		Homo sapiens CD40 ligand (CD40LG), mRNA.	Atorvastatin(DB01076)						223.0	225.0	224.0					X																	135741330		2203	4300	6503	SO:0001583	missense	959	Immune Deficiency with Hyper-IgM	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	B cell proliferation|anti-apoptosis|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding	g.chrX:135741330G>A	X67878	CCDS14659.1	Xq26	2014-09-17	2008-08-01	2005-01-14	ENSG00000102245	ENSG00000102245		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"", ""Endogenous ligands"""	11935	protein-coding gene	gene with protein product	"""CD40 antigen ligand"", ""tumor necrosis factor (ligand) superfamily member 5"", ""T-B cell-activating molecule"", ""TNF-related activation protein"", ""hyper-IgM syndrome"""	300386	"""tumor necrosis factor (ligand) superfamily, member 5 (hyper-IgM syndrome)"""	HIGM1, IMD3, TNFSF5		1427881, 7678782	Standard	NM_000074		Approved	CD40L, TRAP, gp39, hCD40L, CD154	uc004faa.3	P29965	OTTHUMG00000022512	ENST00000370629.2:c.542G>A	X.37:g.135741330G>A	ENSP00000359663:p.Arg181Gln					CD40LG_uc010nsd.3_Missense_Mutation_p.R160Q	p.R181Q	NM_000074	NP_000065	P29965	CD40L_HUMAN			4	614	+	Acute lymphoblastic leukemia(192;0.000127)		181						Missense_Mutation	SNP	ENST00000370629.2	37	c.542G>A	CCDS14659.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.475335	0.26511	.	.	ENSG00000102245	ENST00000370629;ENST00000370628	D;D	0.94417	-3.42;-3.42	5.56	1.87	0.25490	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.925106	0.09375	N	0.810810	D	0.90655	0.7069	L	0.54323	1.7	0.09310	N	1	B;B	0.25235	0.057;0.121	B;B	0.12156	0.003;0.007	T	0.80388	-0.1403	10	0.45353	T	0.12	-10.9118	4.8672	0.13615	0.5007:0.1578:0.3414:0.0	.	160;181	Q3L8U2;P29965	.;CD40L_HUMAN	Q	181;160	ENSP00000359663:R181Q;ENSP00000359662:R160Q	ENSP00000359662:R160Q	R	+	2	0	CD40LG	135568996	0.000000	0.05858	0.218000	0.23776	0.915000	0.54546	-0.401000	0.07232	0.182000	0.20032	0.600000	0.82982	CGG		0.463	CD40LG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058501.1	NM_000074		166	306	0	0	0	1	0	166	306				
CD28	940	broad.mit.edu	37	2	204594418	204594418	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr2:204594418T>C	ENST00000324106.8	+	3	606	c.457T>C	c.(457-459)Ttt>Ctt	p.F153L	CD28_ENST00000458610.2_Missense_Mutation_p.F167L|CD28_ENST00000374478.4_Missense_Mutation_p.F34L|CD28_ENST00000374481.3_Missense_Mutation_p.F69L	NM_001243077.1|NM_006139.3	NP_001230006.1|NP_006130.1	P10747	CD28_HUMAN	CD28 molecule	153					apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|cytokine biosynthetic process (GO:0042089)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|negative thymic T cell selection (GO:0045060)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of inflammatory response to antigenic stimulus (GO:0002863)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of mitosis (GO:0045840)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of viral genome replication (GO:0045070)|regulation of defense response to virus by virus (GO:0050690)|regulatory T cell differentiation (GO:0045066)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						TTCTAAGCCCTTTTGGGTGCT	0.443																																						uc002vah.4																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(457-459)Ttt>Ctt		Homo sapiens CD28 molecule (CD28), transcript variant 1, mRNA.							201.0	191.0	195.0					2																	204594418		2203	4300	6503	SO:0001583	missense	940				T cell costimulation|cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|viral reproduction	cytosol|external side of plasma membrane|integral to plasma membrane	SH3/SH2 adaptor activity|coreceptor activity|protease binding	g.chr2:204594418T>C	J02988	CCDS2361.1, CCDS58749.1	2q33	2013-01-11	2006-03-28		ENSG00000178562	ENSG00000178562		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1653	protein-coding gene	gene with protein product	"""T-cell-specific surface glycoprotein"""	186760	"""CD28 antigen (Tp44)"""			1355979	Standard	NM_006139		Approved		uc002vah.4	P10747	OTTHUMG00000132878	ENST00000324106.8:c.457T>C	2.37:g.204594418T>C	ENSP00000324890:p.Phe153Leu					CD28_uc010zio.2_Missense_Mutation_p.F56L|CD28_uc010ftx.3_Missense_Mutation_p.F34L|CD28_uc002vaj.4_Intron|CD28_uc002vag.1_Non-coding_Transcript	p.F153L	NM_006139	NP_006130	P10747	CD28_HUMAN			2	679	+			153					A8KAC1|Q13964|Q52M23|Q70WG0|Q8NI54|Q8NI55|Q8NI56|Q8WXJ2|Q9BYV0	Missense_Mutation	SNP	ENST00000324106.8	37	c.457T>C	CCDS2361.1	.	.	.	.	.	.	.	.	.	.	T	5.751	0.322926	0.10900	.	.	ENSG00000178562	ENST00000374481;ENST00000458610;ENST00000324106;ENST00000374478	T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43	5.59	5.59	0.84812	.	0.330618	0.33382	N	0.004978	T	0.79834	0.4514	M	0.80982	2.52	0.38004	D	0.934333	P;B	0.36315	0.547;0.007	B;B	0.33339	0.162;0.009	T	0.81521	-0.0895	10	0.33141	T	0.24	-40.368	13.437	0.61090	0.0:0.0:0.0:1.0	.	34;153	P10747-2;P10747	.;CD28_HUMAN	L	69;167;153;34	ENSP00000363605:F69L;ENSP00000393648:F167L;ENSP00000324890:F153L;ENSP00000363602:F34L	ENSP00000324890:F153L	F	+	1	0	CD28	204302663	0.998000	0.40836	0.918000	0.36340	0.031000	0.12232	4.577000	0.60922	2.254000	0.74563	0.459000	0.35465	TTT		0.443	CD28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256366.3	NM_006139		3	186	0	0	0	1	0	3	186				
EPHB1	2047	broad.mit.edu	37	3	134960104	134960104	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr3:134960104G>A	ENST00000398015.3	+	13	2831	c.2461G>A	c.(2461-2463)Gga>Aga	p.G821R	EPHB1_ENST00000493838.1_Missense_Mutation_p.G382R	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	821	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CATGTCATTTGGAGAGAGACC	0.517																																						uc003eqt.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						c.(2461-2463)Gga>Aga		Homo sapiens EPH receptor B1 (EPHB1), mRNA.							282.0	287.0	285.0					3																	134960104		2111	4265	6376	SO:0001583	missense	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134960104G>A	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.2461G>A	3.37:g.134960104G>A	ENSP00000381097:p.Gly821Arg					EPHB1_uc003equ.3_Missense_Mutation_p.G382R	p.G821R	NM_004441	NP_004432	P54762	EPHB1_HUMAN			12	2836	+			821			Protein kinase.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	c.2461G>A	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	G	32	5.185158	0.94885	.	.	ENSG00000154928	ENST00000398015;ENST00000493838	T;T	0.71461	-0.57;-0.57	5.02	5.02	0.67125	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.060752	0.64402	D	0.000003	D	0.84822	0.5557	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86653	0.1899	10	0.87932	D	0	.	18.5321	0.90996	0.0:0.0:1.0:0.0	.	821	P54762	EPHB1_HUMAN	R	821;382	ENSP00000381097:G821R;ENSP00000419574:G382R	ENSP00000381097:G821R	G	+	1	0	EPHB1	136442794	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.657000	0.98554	2.608000	0.88229	0.655000	0.94253	GGA		0.517	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		112	207	0	0	0	1	0	112	207				
PLG	5340	broad.mit.edu	37	6	161134119	161134119	+	Missense_Mutation	SNP	A	A	C			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr6:161134119A>C	ENST00000308192.9	+	5	572	c.509A>C	c.(508-510)gAa>gCa	p.E170A	PLG_ENST00000462918.1_3'UTR	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	170	Kringle 1. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	ACTGATCCAGAAAAGAGATAT	0.463																																						uc003qtm.4																			0		p.P169R(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59						c.(508-510)gAa>gCa		Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						148.0	144.0	146.0					6																	161134119		2203	4300	6503	SO:0001583	missense	5340				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	g.chr6:161134119A>C	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.509A>C	6.37:g.161134119A>C	ENSP00000308938:p.Glu170Ala						p.E170A	NM_000301	NP_000292	P00747	PLMN_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	4	621	+			170			Kringle 1.		Q15146|Q5TEH4|Q6PA00	Missense_Mutation	SNP	ENST00000308192.9	37	c.509A>C	CCDS5279.1	.	.	.	.	.	.	.	.	.	.	A	0.032	-1.327384	0.01309	.	.	ENSG00000122194	ENST00000308192	T	0.66638	-0.22	5.11	1.19	0.21007	Kringle (4);Kringle-like fold (1);	0.657771	0.12294	U	0.481833	T	0.24431	0.0592	L	0.28694	0.88	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.20706	-1.0267	10	0.17832	T	0.49	.	5.0286	0.14398	0.6221:0.1445:0.2334:0.0	.	170	P00747	PLMN_HUMAN	A	170	ENSP00000308938:E170A	ENSP00000308938:E170A	E	+	2	0	PLG	161054109	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.824000	0.27379	0.031000	0.15407	0.528000	0.53228	GAA		0.463	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		5	197	0	0	0	1	0	5	197				
TET1	80312	broad.mit.edu	37	10	70411612	70411612	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr10:70411612T>C	ENST00000373644.4	+	5	4495	c.4286T>C	c.(4285-4287)aTa>aCa	p.I1429T		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1429					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GATCGAGTTATACAAAAAGAC	0.428																																						uc001jok.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						c.(4285-4287)aTa>aCa		Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.							124.0	132.0	129.0					10																	70411612		2203	4300	6503	SO:0001583	missense	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70411612T>C	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.4286T>C	10.37:g.70411612T>C	ENSP00000362748:p.Ile1429Thr						p.I1429T	NM_030625	NP_085128	Q8NFU7	TET1_HUMAN			4	4791	+			1429					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	c.4286T>C	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	T	16.70	3.196304	0.58126	.	.	ENSG00000138336	ENST00000373644	T	0.43688	0.94	5.62	2.04	0.26737	TET cysteine-rich domain (1);	0.489617	0.19446	N	0.114069	T	0.25568	0.0622	N	0.24115	0.695	0.26835	N	0.968506	B	0.33103	0.397	B	0.31751	0.135	T	0.10800	-1.0614	10	0.33141	T	0.24	.	8.4162	0.32672	0.0:0.2285:0.0:0.7715	.	1429	Q8NFU7	TET1_HUMAN	T	1429	ENSP00000362748:I1429T	ENSP00000362748:I1429T	I	+	2	0	TET1	70081618	1.000000	0.71417	0.983000	0.44433	0.975000	0.68041	2.972000	0.49256	0.102000	0.17638	0.528000	0.53228	ATA		0.428	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		7	131	0	0	0	1	0	7	131				
GLP2R	9340	broad.mit.edu	37	17	9763385	9763385	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr17:9763385C>T	ENST00000262441.5	+	7	1405	c.892C>T	c.(892-894)Cgg>Tgg	p.R298W	GLP2R_ENST00000574745.1_Missense_Mutation_p.R118W	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	298					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|positive regulation of cell proliferation (GO:0008284)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|glucagon receptor activity (GO:0004967)			endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	TCCTGAGAGGCGGCTGTGGCC	0.542																																						uc002gmd.1																			0				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44						c.(892-894)Cgg>Tgg		Homo sapiens glucagon-like peptide 2 receptor (GLP2R), mRNA.	Glucagon recombinant(DB00040)						56.0	55.0	55.0					17																	9763385		2203	4300	6503	SO:0001583	missense	9340				G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane		g.chr17:9763385C>T	AF105367	CCDS11150.1	17p13.3	2012-08-10			ENSG00000065325	ENSG00000065325		"""GPCR / Class B : Glucagon receptors"""	4325	protein-coding gene	gene with protein product		603659				9990065	Standard	NM_004246		Approved		uc002gmd.1	O95838	OTTHUMG00000130269	ENST00000262441.5:c.892C>T	17.37:g.9763385C>T	ENSP00000262441:p.Arg298Trp						p.R298W	NM_004246	NP_004237	O95838	GLP2R_HUMAN			6	892	+			298					Q4VAT3	Missense_Mutation	SNP	ENST00000262441.5	37	c.892C>T	CCDS11150.1	.	.	.	.	.	.	.	.	.	.	C	6.891	0.533848	0.13188	.	.	ENSG00000065325	ENST00000396206;ENST00000304773;ENST00000262441	T	0.42900	0.96	5.34	0.67	0.17923	GPCR, family 2-like (1);	0.238863	0.21970	N	0.066475	T	0.43144	0.1234	M	0.86651	2.83	0.09310	N	1	P	0.46859	0.885	B	0.43809	0.432	T	0.44667	-0.9313	10	0.56958	D	0.05	.	1.6514	0.02773	0.1389:0.4599:0.135:0.2663	.	298	O95838	GLP2R_HUMAN	W	298;273;298	ENSP00000262441:R298W	ENSP00000262441:R298W	R	+	1	2	GLP2R	9704110	0.001000	0.12720	0.787000	0.31911	0.322000	0.28314	-0.354000	0.07681	-0.026000	0.13895	-0.136000	0.14681	CGG		0.542	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252601.4			10	23	0	0	0	1	0	10	23				
GRIP2	80852	broad.mit.edu	37	3	14558718	14558718	+	RNA	SNP	A	A	G			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr3:14558718A>G	ENST00000273083.3	-	0	1224							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						AGTTGAAGACAAGGCTGGGGA	0.612																																						uc021wtn.1																			0				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						c.(1447-1449)tTg>tCg		Homo sapiens glutamate receptor interacting protein 2 (GRIP2), mRNA.							93.0	104.0	100.0					3																	14558718		2035	4180	6215			80852				synaptic transmission	cytosol|plasma membrane	protein binding	g.chr3:14558718A>G	AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14558718A>G							p.L483S	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN			12	1448	-			387			PDZ 4.		Q8TEH9|Q9H7H3	Missense_Mutation	SNP	ENST00000273083.3	37	c.1448T>C																																																																																					0.612	GRIP2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000340582.2	NM_001080423		4	52	0	0	0	1	0	4	52				
PARD6B	84612	broad.mit.edu	37	20	49366339	49366339	+	Missense_Mutation	SNP	A	A	T	rs538014525		TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr20:49366339A>T	ENST00000371610.2	+	3	676	c.433A>T	c.(433-435)Att>Ttt	p.I145F	PARD6B_ENST00000396039.1_Intron	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN	par-6 family cell polarity regulator beta	145	Interaction with PARD3 and CDC42. {ECO:0000250}.|Pseudo-CRIB.				axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction assembly (GO:0007043)|cell-cell junction organization (GO:0045216)|establishment or maintenance of cell polarity (GO:0007163)|protein complex assembly (GO:0006461)|regulation of cell migration (GO:0030334)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						TGTGTCTTCTATTATAGACGT	0.438																																						uc002xvo.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						c.(433-435)Att>Ttt		Homo sapiens par-6 partitioning defective 6 homolog beta (C. elegans) (PARD6B), mRNA.							71.0	70.0	70.0					20																	49366339		2203	4300	6503	SO:0001583	missense	84612				axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding	g.chr20:49366339A>T	AB044555	CCDS33485.1	20q13.13	2013-08-28	2013-08-28		ENSG00000124171	ENSG00000124171			16245	protein-coding gene	gene with protein product		608975	"""par-6 (partitioning defective 6, C.elegans) homolog beta"", ""par-6 partitioning defective 6 homolog beta (C. elegans)"""			11260256	Standard	NM_032521		Approved	PAR-6B	uc002xvo.3	Q9BYG5	OTTHUMG00000032732	ENST00000371610.2:c.433A>T	20.37:g.49366339A>T	ENSP00000360672:p.Ile145Phe						p.I145F	NM_032521	NP_115910	Q9BYG5	PAR6B_HUMAN			2	676	+			145			Interaction with PARD3 and CDC42 (By similarity).|Pseudo-CRIB.		A2A2A7|Q9Y510	Missense_Mutation	SNP	ENST00000371610.2	37	c.433A>T	CCDS33485.1	.	.	.	.	.	.	.	.	.	.	A	28.3	4.908985	0.92107	.	.	ENSG00000124171	ENST00000371610	T	0.42900	0.96	6.02	6.02	0.97574	PDZ/DHR/GLGF (1);	0.045268	0.85682	D	0.000000	T	0.68924	0.3054	M	0.85462	2.755	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.72855	-0.4166	10	0.54805	T	0.06	-31.7888	16.5446	0.84426	1.0:0.0:0.0:0.0	.	145	Q9BYG5	PAR6B_HUMAN	F	145	ENSP00000360672:I145F	ENSP00000360672:I145F	I	+	1	0	PARD6B	48799746	1.000000	0.71417	0.631000	0.29282	0.886000	0.51366	8.875000	0.92372	2.311000	0.77944	0.533000	0.62120	ATT		0.438	PARD6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079697.2	NM_032521		27	46	0	0	0	1	0	27	46				
APOB	338	broad.mit.edu	37	2	21231425	21231425	+	Missense_Mutation	SNP	T	T	A			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr2:21231425T>A	ENST00000233242.1	-	26	8442	c.8315A>T	c.(8314-8316)gAt>gTt	p.D2772V		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2772					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCATTTGCATCTAATGTGAA	0.428																																						uc002red.3																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(8314-8316)gAt>gTt		Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	Atorvastatin(DB01076)						129.0	129.0	129.0					2																	21231425		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21231425T>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.8315A>T	2.37:g.21231425T>A	ENSP00000233242:p.Asp2772Val						p.D2772V	NM_000384	NP_000375	P04114	APOB_HUMAN			25	8443	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2772					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.8315A>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	T	8.749	0.920741	0.17982	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00730	5.77	5.37	5.37	0.77165	.	0.000000	0.48767	D	0.000161	T	0.01124	0.0037	M	0.65975	2.015	0.28069	N	0.93266	P	0.40731	0.728	B	0.31946	0.138	T	0.46428	-0.9192	10	0.46703	T	0.11	.	10.803	0.46500	0.0:0.0:0.2876:0.7124	.	2772	P04114	APOB_HUMAN	V	2772	ENSP00000233242:D2772V	ENSP00000233242:D2772V	D	-	2	0	APOB	21084930	0.077000	0.21312	0.429000	0.26710	0.032000	0.12392	1.583000	0.36579	2.037000	0.60232	0.459000	0.35465	GAT		0.428	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			10	174	0	0	0	1	0	10	174				
KIF1A	547	broad.mit.edu	37	2	241724413	241724413	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr2:241724413G>A	ENST00000320389.7	-	7	871	c.713C>T	c.(712-714)aCg>aTg	p.T238M	KIF1A_ENST00000498729.2_Missense_Mutation_p.T238M	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	238	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CACCTTCTCCGTGGTGATATT	0.612																																						uc010fzk.3																			0				NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66						c.(712-714)aCg>aTg		Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.							213.0	223.0	219.0					2																	241724413		2199	4299	6498	SO:0001583	missense	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241724413G>A	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.713C>T	2.37:g.241724413G>A	ENSP00000322791:p.Thr238Met					KIF1A_uc002vzy.3_Missense_Mutation_p.T238M|KIF1A_uc002vzz.2_Missense_Mutation_p.T238M	p.T238M	NM_001244008	NP_001230937	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	6	960	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	238			Kinesin-motor.		B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	c.713C>T	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.894705	0.52121	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	T;T;T	0.75477	-0.94;-0.94;-0.94	4.04	4.04	0.47022	Kinesin, motor domain (4);	0.192157	0.43747	U	0.000538	D	0.82536	0.5058	M	0.74881	2.28	0.80722	D	1	D;D;D	0.69078	0.997;0.993;0.981	P;P;P	0.56434	0.798;0.581;0.696	D	0.85164	0.0994	10	0.52906	T	0.07	.	16.5652	0.84577	0.0:0.0:1.0:0.0	.	238;238;238	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	M	238	ENSP00000322791:T238M;ENSP00000438388:T238M;ENSP00000384231:T238M	ENSP00000322791:T238M	T	-	2	0	KIF1A	241373086	1.000000	0.71417	0.974000	0.42286	0.282000	0.26991	9.441000	0.97557	1.965000	0.57142	0.563000	0.77884	ACG		0.612	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		4	165	0	0	0	1	0	4	165				
MTHFD1L	25902	broad.mit.edu	37	6	151239804	151239804	+	Splice_Site	SNP	G	G	C			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr6:151239804G>C	ENST00000367321.3	+	9	1258	c.984G>C	c.(982-984)caG>caC	p.Q328H		NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	328	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		TGCGAATTCAGGTTTGTTCAA	0.403																																						uc021zgs.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29						c.e9+1		Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like (MTHFD1L), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							165.0	163.0	164.0					6																	151239804		2203	4300	6503	SO:0001630	splice_region_variant	25902				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity	g.chr6:151239804G>C	BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	6.3.4.3		21055	protein-coding gene	gene with protein product	"""10-formyl-THF synthetase"", ""mitochondrial C1-tetrahydrofolate synthase"", ""monofunctional C1-tetrahydrofolate synthase, mitochondrial"""	611427	"""formyltetrahydrofolate synthetase domain containing 1"""	FTHFSDC1		18804703	Standard	NM_015440		Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.984+1G>C	6.37:g.151239804G>C						MTHFD1L_uc011een.2_Splice_Site|MTHFD1L_uc003qob.3_Splice_Site_p.Q328_splice|MTHFD1L_uc021zgt.1_Splice_Site_p.Q263_splice|MTHFD1L_uc003qoc.3_Splice_Site_p.Q276_splice	p.Q329_splice	NM_001242767	NP_001229696	Q6UB35	C1TM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)	9	1131	+		Ovarian(120;0.128)	328			Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.		Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Splice_Site	SNP	ENST00000367321.3	37	c.987_splice	CCDS5228.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.03|16.03	3.008299|3.008299	0.54361|0.54361	.|.	.|.	ENSG00000120254|ENSG00000120254	ENST00000367321|ENST00000367308	T|.	0.12361|.	2.69|.	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	0.112203|.	0.64402|.	D|.	0.000007|.	T|T	0.60869|0.60869	0.2302|0.2302	L|L	0.48642|0.48642	1.525|1.525	0.80722|0.80722	D|D	1|1	B;B;B|.	0.13594|.	0.008;0.007;0.008|.	B;B;B|.	0.13407|.	0.009;0.009;0.009|.	T|T	0.57242|0.57242	-0.7845|-0.7845	10|5	0.62326|.	D|.	0.03|.	.|.	18.1087|18.1087	0.89528|0.89528	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	329;83;328|.	B7ZM99;B2RD24;Q6UB35|.	.;.;C1TM_HUMAN|.	H|T	328|289	ENSP00000356290:Q328H|.	ENSP00000356290:Q328H|.	Q|R	+|+	3|2	2|0	MTHFD1L|MTHFD1L	151281497|151281497	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.791000|0.791000	0.44710|0.44710	5.401000|5.401000	0.66326|0.66326	2.609000|2.609000	0.88269|0.88269	0.655000|0.655000	0.94253|0.94253	CAG|AGA		0.403	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042699.1	NM_015440	Missense_Mutation	4	114	0	0	0	1	0	4	114				
FLG	2312	broad.mit.edu	37	1	152275656	152275656	+	Silent	SNP	G	G	A	rs147335121		TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr1:152275656G>A	ENST00000368799.1	-	3	11741	c.11706C>T	c.(11704-11706)ccC>ccT	p.P3902P	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3902	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGAGGATCCGGGGTGTCTGG	0.517									Ichthyosis																													uc001ezu.1																			0		p.P3902L(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(11704-11706)ccC>ccT		Homo sapiens filaggrin (FLG), mRNA.		G		1,4405	2.1+/-5.4	0,1,2202	89.0	91.0	91.0		11706	-3.4	0.0	1	dbSNP_134	91	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FLG	NM_002016.1		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		3902/4062	152275656	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152275656G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.11706C>T	1.37:g.152275656G>A							p.P3902P	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	11742	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3902			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.11706C>T	CCDS30860.1																																																																																				0.517	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		5	95	0	0	0	1	0	5	95				
FRY	10129	broad.mit.edu	37	13	32835817	32835817	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr13:32835817G>A	ENST00000380250.3	+	52	7977	c.7481G>A	c.(7480-7482)tGt>tAt	p.C2494Y	FRY_ENST00000542859.1_5'Flank	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2494						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CTGGATAAGTGTGATATGCAG	0.498																																						uc001utx.3																			0		p.C2494S(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(7480-7482)tGt>tAt		Homo sapiens furry homolog (Drosophila) (FRY), mRNA.							80.0	84.0	83.0					13																	32835817		2013	4178	6191	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32835817G>A	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.7481G>A	13.37:g.32835817G>A	ENSP00000369600:p.Cys2494Tyr					FRY_uc010tdw.2_Non-coding_Transcript|FRY_uc001utz.3_Missense_Mutation_p.C19Y|FRY_uc010tdx.2_5'Flank	p.C2494Y	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	51	7977	+		Lung SC(185;0.0271)	2494					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.7481G>A	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	G	18.75	3.690930	0.68271	.	.	ENSG00000073910	ENST00000380250;ENST00000380235	T	0.21734	1.99	5.68	5.68	0.88126	.	0.085025	0.85682	D	0.000000	T	0.23133	0.0559	N	0.22421	0.69	0.80722	D	1	D;P	0.57571	0.98;0.944	P;P	0.47299	0.543;0.492	T	0.01062	-1.1464	10	0.59425	D	0.04	.	19.7964	0.96487	0.0:0.0:1.0:0.0	.	275;2494	Q8NB82;Q5TBA9	.;FRY_HUMAN	Y	2494;138	ENSP00000369600:C2494Y	ENSP00000369567:C138Y	C	+	2	0	FRY	31733817	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	5.659000	0.68010	2.702000	0.92279	0.655000	0.94253	TGT		0.498	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		28	40	0	0	0	1	0	28	40				
ZBTB22	9278	broad.mit.edu	37	6	33283609	33283609	+	Missense_Mutation	SNP	C	C	T	rs147840428		TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr6:33283609C>T	ENST00000431845.2	-	2	1236	c.1085G>A	c.(1084-1086)cGt>cAt	p.R362H	ZBTB22_ENST00000418724.1_Missense_Mutation_p.R362H|TAPBP_ENST00000456592.2_5'Flank|TAPBP_ENST00000489157.1_5'Flank|TAPBP_ENST00000475304.1_5'Flank|TAPBP_ENST00000434618.2_5'Flank|TAPBP_ENST00000426633.2_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	362					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(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						ACTCAGGGTACGGACATCACT	0.577													C|||	1	0.000199681	0.0	0.0	5008	,	,		17836	0.0		0.001	False		,,,				2504	0.0					uc003oeb.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						c.(1084-1086)cGt>cAt		Homo sapiens zinc finger and BTB domain containing 22 (ZBTB22), transcript variant 1, mRNA.							110.0	104.0	106.0					6																	33283609		2203	4300	6503	SO:0001583	missense	9278				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33283609C>T	Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13085	protein-coding gene	gene with protein product		611439	"""zinc finger protein 297"""	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.1085G>A	6.37:g.33283609C>T	ENSP00000407545:p.Arg362His					TAPBP_uc003odx.2_5'Flank|TAPBP_uc010jut.2_5'Flank|TAPBP_uc003odz.3_5'Flank|TAPBP_uc003ody.3_5'Flank|TAPBP_uc011drc.2_5'Flank|ZBTB22_uc010juu.3_Missense_Mutation_p.R362H|ZBTB22_uc021ywm.1_Missense_Mutation_p.R362H	p.R362H	NM_005453	NP_005444	O15209	ZBT22_HUMAN			1	1237	-			362					B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Missense_Mutation	SNP	ENST00000431845.2	37	c.1085G>A	CCDS4775.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	14.73	2.624012	0.46840	.	.	ENSG00000236104	ENST00000418724;ENST00000431845	T;T	0.10573	2.86;2.86	3.7	3.7	0.42460	.	.	.	.	.	T	0.10208	0.0250	L	0.39898	1.24	0.43569	D	0.995891	D	0.71674	0.998	P	0.54346	0.749	T	0.03695	-1.1012	9	0.62326	D	0.03	.	12.9838	0.58579	0.0:1.0:0.0:0.0	.	362	O15209	ZBT22_HUMAN	H	362	ENSP00000404403:R362H;ENSP00000407545:R362H	ENSP00000404403:R362H	R	-	2	0	ZBTB22	33391587	1.000000	0.71417	0.985000	0.45067	0.775000	0.43874	4.254000	0.58798	1.909000	0.55274	0.448000	0.29417	CGT		0.577	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2			4	126	0	0	0	1	0	4	126				
