#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
OR2W3	343171	broad.mit.edu	37	1	248059477	248059477	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70C-01A-21D-A35D-08	TCGA-QR-A70C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4765d0df-a878-4492-8744-14674ed5fd2e	9def449a-5289-4f58-8bb7-5684a7dc9f64	g.chr1:248059477G>A	ENST00000360358.3	+	1	589	c.589G>A	c.(589-591)Ggc>Agc	p.G197S	OR2W3_ENST00000537741.1_Missense_Mutation_p.G197S	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	197						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGCCATCGAAGGCACCGTCTT	0.597																																						ENST00000537741.1																			0				breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49						c.(589-591)Ggc>Agc		olfactory receptor, family 2, subfamily W, member 3							155.0	135.0	142.0					1																	248059477		2203	4300	6503	SO:0001583	missense	343171				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248059477G>A	N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243		"""GPCR / Class A : Olfactory receptors"""	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P		14983052	Standard	NM_001001957		Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	ENST00000360358.3:c.589G>A	1.37:g.248059477G>A	ENSP00000353516:p.Gly197Ser					OR2W3_ENST00000360358.3_Missense_Mutation_p.G197S	p.G197S			Q7Z3T1	OR2W3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		3	846	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		197					Q6IF06|Q8NG86	Missense_Mutation	SNP	ENST00000360358.3	37	c.589G>A	CCDS31099.1	.	.	.	.	.	.	.	.	.	.	G	3.184	-0.167196	0.06461	.	.	ENSG00000238243	ENST00000537741;ENST00000360358	T;T	0.00069	8.77;8.77	5.29	3.4	0.38934	GPCR, rhodopsin-like superfamily (1);	0.475764	0.20138	N	0.098430	T	0.00073	0.0002	N	0.02539	-0.55	0.09310	N	1	B	0.16166	0.016	B	0.24006	0.05	T	0.06954	-1.0798	10	0.31617	T	0.26	.	5.3935	0.16257	0.2226:0.0:0.632:0.1454	.	197	Q7Z3T1	OR2W3_HUMAN	S	197	ENSP00000445853:G197S;ENSP00000353516:G197S	ENSP00000353516:G197S	G	+	1	0	OR2W3	246126100	0.002000	0.14202	0.160000	0.22671	0.021000	0.10359	0.510000	0.22723	1.477000	0.48234	0.609000	0.83330	GGC		0.597	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096861.1	NM_001001957		6	106	0	0	0	1	0	6	106				
ENAM	10117	broad.mit.edu	37	4	71500137	71500137	+	Nonsense_Mutation	SNP	C	C	G			TCGA-QR-A70C-01A-21D-A35D-08	TCGA-QR-A70C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4765d0df-a878-4492-8744-14674ed5fd2e	9def449a-5289-4f58-8bb7-5684a7dc9f64	g.chr4:71500137C>G	ENST00000396073.3	+	6	604	c.323C>G	c.(322-324)tCa>tGa	p.S108*		NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	108					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CGGAAATCCTCAGCACCCAAA	0.522																																						ENST00000396073.3																			0				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6						c.(322-324)tCa>tGa		enamelin							123.0	124.0	124.0					4																	71500137		2203	4296	6499	SO:0001587	stop_gained	10117				bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	g.chr4:71500137C>G	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.323C>G	4.37:g.71500137C>G	ENSP00000379383:p.Ser108*						p.S108*	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	Lung(101;0.235)		6	604	+			108					Q17RI5|Q9H3D1	Nonsense_Mutation	SNP	ENST00000396073.3	37	c.323C>G	CCDS3544.2	.	.	.	.	.	.	.	.	.	.	C	19.55	3.847896	0.71603	.	.	ENSG00000132464	ENST00000396073	.	.	.	4.84	2.97	0.34412	.	0.958181	0.08564	N	0.927145	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-0.7878	5.5419	0.17043	0.1954:0.7027:0.0:0.1019	.	.	.	.	X	108	.	ENSP00000379383:S108X	S	+	2	0	ENAM	71719001	0.005000	0.15991	0.250000	0.24296	0.058000	0.15608	1.455000	0.35190	1.184000	0.42957	-0.384000	0.06662	TCA		0.522	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889		19	100	0	0	0	1	0	19	100				
BEST3	144453	broad.mit.edu	37	12	70048984	70048984	+	Silent	SNP	G	G	A	rs376220817		TCGA-QR-A70C-01A-21D-A35D-08	TCGA-QR-A70C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4765d0df-a878-4492-8744-14674ed5fd2e	9def449a-5289-4f58-8bb7-5684a7dc9f64	g.chr12:70048984G>A	ENST00000330891.5	-	10	1936	c.1710C>T	c.(1708-1710)agC>agT	p.S570S	BEST3_ENST00000488961.1_Silent_p.S357S|BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Silent_p.S464S	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	570					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			TTTCCTCAGCGCTGGCTGAAA	0.557																																						ENST00000330891.5																			0				cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12						c.(1708-1710)agC>agT		bestrophin 3		G	,	1,3703		0,1,1851	42.0	42.0	42.0		1710,1071	-7.7	0.0	12		42	0,8188		0,0,4094	no	coding-synonymous,coding-synonymous	BEST3	NM_032735.2,NM_152439.2	,	0,1,5945	AA,AG,GG		0.0,0.027,0.0084	,	570/669,357/456	70048984	1,11891	1852	4094	5946	SO:0001819	synonymous_variant	144453					chloride channel complex|plasma membrane	chloride channel activity	g.chr12:70048984G>A	AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17105	protein-coding gene	gene with protein product		607337	"""vitelliform macular dystrophy 2-like 3"""	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.1710C>T	12.37:g.70048984G>A						BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Silent_p.S464S|BEST3_ENST00000488961.1_Silent_p.S357S	p.S570S	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)		10	1936	-	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		570					B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Silent	SNP	ENST00000330891.5	37	c.1710C>T	CCDS8992.2																																																																																				0.557	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2	NM_152439		21	28	0	0	0	1	0	21	28				
OGT	8473	broad.mit.edu	37	X	70756122	70756122	+	Silent	SNP	C	C	T			TCGA-QR-A70C-01A-21D-A35D-08	TCGA-QR-A70C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4765d0df-a878-4492-8744-14674ed5fd2e	9def449a-5289-4f58-8bb7-5684a7dc9f64	g.chrX:70756122C>T	ENST00000373719.3	+	2	349	c.132C>T	c.(130-132)tgC>tgT	p.C44C	OGT_ENST00000498566.1_3'UTR|OGT_ENST00000373701.3_Silent_p.C34C	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	44					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					AGAGACACTGCATGCAGCTCT	0.478																																						ENST00000373719.3																			0				breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(130-132)tgC>tgT		O-linked N-acetylglucosamine (GlcNAc) transferase							121.0	94.0	103.0					X																	70756122		2203	4300	6503	SO:0001819	synonymous_variant	8473				cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity	g.chrX:70756122C>T	U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"""Tetratricopeptide (TTC) repeat domain containing"""	8127	protein-coding gene	gene with protein product	"""UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"""	300255	"""O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"""			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.132C>T	X.37:g.70756122C>T						OGT_ENST00000373701.3_Silent_p.C34C|OGT_ENST00000498566.1_3'UTR	p.C44C	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN			2	349	+	Renal(35;0.156)		44					Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Silent	SNP	ENST00000373719.3	37	c.132C>T	CCDS14414.1																																																																																				0.478	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000081829.3	NM_003605, NM_181672		18	24	0	0	0	1	0	18	24				
SPATA31A6	389730	broad.mit.edu	37	9	43625500	43625500	+	Missense_Mutation	SNP	G	G	A	rs542356915	byFrequency	TCGA-QR-A70C-01A-21D-A35D-08	TCGA-QR-A70C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4765d0df-a878-4492-8744-14674ed5fd2e	9def449a-5289-4f58-8bb7-5684a7dc9f64	g.chr9:43625500G>A	ENST00000332857.6	-	4	3215	c.3187C>T	c.(3187-3189)Cgg>Tgg	p.R1063W	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	1063					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TGGGAAGCCCGCATGTTCCCA	0.557													G|||	5	0.000998403	0.003	0.0	5008	,	,		14133	0.001		0.0	False		,,,				2504	0.0					ENST00000332857.6																			0											c.(3187-3189)Cgg>Tgg		SPATA31 subfamily A, member 6							1.0	1.0	1.0					9																	43625500		185	659	844	SO:0001583	missense	389730							g.chr9:43625500G>A		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.3187C>T	9.37:g.43625500G>A	ENSP00000329825:p.Arg1063Trp						p.R1063W	NM_001145196.1	NP_001138668.1					4	3215	-									Missense_Mutation	SNP	ENST00000332857.6	37	c.3187C>T	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	G	9.743	1.165371	0.21538	.	.	ENSG00000185775	ENST00000332857	T	0.03772	3.81	1.9	-3.79	0.04320	.	2.867030	0.01597	N	0.021847	T	0.03136	0.0092	N	0.14661	0.345	0.09310	N	1	P	0.49559	0.925	B	0.34873	0.191	T	0.42749	-0.9433	10	0.62326	D	0.03	.	9.8271	0.40919	0.7723:0.0:0.2277:0.0	.	1063	Q5VVP1	F75A6_HUMAN	W	1063	ENSP00000329825:R1063W	ENSP00000329825:R1063W	R	-	1	2	FAM75A6	43565496	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.446000	0.00232	-2.125000	0.00821	-1.979000	0.00458	CGG		0.557	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		4	91	0	0	0	1	0	4	91				
IL6ST	3572	broad.mit.edu	37	5	55259298	55259298	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A70C-01A-21D-A35D-08	TCGA-QR-A70C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4765d0df-a878-4492-8744-14674ed5fd2e	9def449a-5289-4f58-8bb7-5684a7dc9f64	g.chr5:55259298T>C	ENST00000381298.2	-	7	1007	c.695A>G	c.(694-696)aAc>aGc	p.N232S	IL6ST_ENST00000522633.2_Missense_Mutation_p.N232S|IL6ST_ENST00000536319.1_Missense_Mutation_p.N232S|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000336909.5_Missense_Mutation_p.N232S|IL6ST_ENST00000381294.3_Missense_Mutation_p.N232S|IL6ST_ENST00000381287.4_Missense_Mutation_p.N232S|IL6ST_ENST00000502326.3_Missense_Mutation_p.N232S|IL6ST_ENST00000577363.1_5'Flank|IL6ST_ENST00000381293.2_Missense_Mutation_p.N66S	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	232	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				TTCCTCTGAGTTGATCACTGA	0.294			O		hepatocellular ca																																	ENST00000381298.2				Dom	yes		5	5q11	3572	O	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			E			hepatocellular ca		0				breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(694-696)aAc>aGc		interleukin 6 signal transducer (gp130, oncostatin M receptor)							97.0	100.0	99.0					5																	55259298		2203	4300	6503	SO:0001583	missense	3572				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity	g.chr5:55259298T>C	M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6021	protein-coding gene	gene with protein product	"""gp130, oncostatin M receptor"""	600694	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.695A>G	5.37:g.55259298T>C	ENSP00000370698:p.Asn232Ser					IL6ST_ENST00000381287.4_Missense_Mutation_p.N232S|IL6ST_ENST00000381294.3_Missense_Mutation_p.N232S|IL6ST_ENST00000522633.2_Missense_Mutation_p.N232S|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000336909.5_Missense_Mutation_p.N232S|IL6ST_ENST00000536319.1_Missense_Mutation_p.N232S|IL6ST_ENST00000502326.3_Missense_Mutation_p.N232S|IL6ST_ENST00000381293.2_Missense_Mutation_p.N66S	p.N232S	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN			7	1007	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)	232			Fibronectin type-III 2.		A0N0L4|Q5FC04|Q9UQ41	Missense_Mutation	SNP	ENST00000381298.2	37	c.695A>G	CCDS3971.1	.	.	.	.	.	.	.	.	.	.	T	9.449	1.090049	0.20390	.	.	ENSG00000134352	ENST00000381298;ENST00000336909;ENST00000381294;ENST00000381287;ENST00000536319;ENST00000381293;ENST00000522633;ENST00000542298	T;T;T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42;0.42;0.42	5.91	3.57	0.40892	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.816425	0.11492	N	0.558609	T	0.32164	0.0820	N	0.25647	0.755	0.80722	D	1	B;B;B;B	0.24576	0.106;0.0;0.0;0.0	B;B;B;B	0.23574	0.047;0.0;0.0;0.001	T	0.12319	-1.0552	10	0.05436	T	0.98	.	5.8146	0.18486	0.0:0.1445:0.1417:0.7138	.	66;232;232;232	Q5FC05;Q5FC04;P40189-2;P40189	.;.;.;IL6RB_HUMAN	S	232;232;232;232;232;66;232;232	ENSP00000370698:N232S;ENSP00000338799:N232S;ENSP00000370694:N232S;ENSP00000370687:N232S;ENSP00000444456:N232S;ENSP00000370693:N66S;ENSP00000435399:N232S	ENSP00000338799:N232S	N	-	2	0	IL6ST	55295055	0.581000	0.26741	1.000000	0.80357	0.992000	0.81027	0.017000	0.13399	1.067000	0.40740	0.533000	0.62120	AAC		0.294	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3	NM_002184		12	41	0	0	0	1	0	12	41				
LILRB5	10990	broad.mit.edu	37	19	54754889	54754889	+	Intron	SNP	T	T	C			TCGA-QR-A70C-01A-21D-A35D-08	TCGA-QR-A70C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4765d0df-a878-4492-8744-14674ed5fd2e	9def449a-5289-4f58-8bb7-5684a7dc9f64	g.chr19:54754889T>C	ENST00000316219.5	-	13	1734				LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000450632.1_Silent_p.R582R|LILRB5_ENST00000449561.2_Intron|CTD-2337J16.1_ENST00000595133.1_lincRNA	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5						cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGTCCATCTGTCTGTCCTCTT	0.597																																						ENST00000450632.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1744-1746)agA>agG		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5																																				SO:0001627	intron_variant	10990				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54754889T>C	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1627-93A>G	19.37:g.54754889T>C						LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000316219.5_Intron	p.R582R			O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	13	1823	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		388					Q8N760	Silent	SNP	ENST00000316219.5	37	c.1746A>G	CCDS12885.1																																																																																				0.597	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			4	38	0	0	0	1	0	4	38				
LGR6	59352	broad.mit.edu	37	1	202287753	202287753	+	Missense_Mutation	SNP	C	C	G	rs199692167		TCGA-QR-A70C-01A-21D-A35D-08	TCGA-QR-A70C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4765d0df-a878-4492-8744-14674ed5fd2e	9def449a-5289-4f58-8bb7-5684a7dc9f64	g.chr1:202287753C>G	ENST00000367278.3	+	18	2411	c.2322C>G	c.(2320-2322)caC>caG	p.H774Q	LGR6_ENST00000255432.7_Missense_Mutation_p.H722Q|LGR6_ENST00000439764.2_Missense_Mutation_p.H635Q	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	774					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						TGGTGAGGCACGTGGCCTGGC	0.642																																						ENST00000367278.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						c.(2320-2322)caC>caG		leucine-rich repeat containing G protein-coupled receptor 6							100.0	79.0	86.0					1																	202287753		2203	4300	6503	SO:0001583	missense	59352					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr1:202287753C>G	AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"""GPCR / Class A : Orphans"""	19719	protein-coding gene	gene with protein product		606653	"""leucine-rich repeat-containing G protein-coupled receptor 6"""			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.2322C>G	1.37:g.202287753C>G	ENSP00000356247:p.His774Gln					LGR6_ENST00000439764.2_Missense_Mutation_p.H635Q|LGR6_ENST00000255432.7_Missense_Mutation_p.H722Q	p.H774Q	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN			18	2411	+			774					Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Missense_Mutation	SNP	ENST00000367278.3	37	c.2322C>G	CCDS30971.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.875179	0.51695	.	.	ENSG00000133067	ENST00000367278;ENST00000255432;ENST00000439764	T;T;T	0.39056	1.1;1.1;1.1	4.49	-0.877	0.10621	.	0.000000	0.85682	D	0.000000	T	0.56920	0.2018	M	0.65975	2.015	0.36511	D	0.86956	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.62656	-0.6808	10	0.72032	D	0.01	.	11.165	0.48537	0.0:0.4402:0.0:0.5598	.	635;722;774	Q9HBX8-1;Q9HBX8-2;Q9HBX8	.;.;LGR6_HUMAN	Q	774;722;635	ENSP00000356247:H774Q;ENSP00000255432:H722Q;ENSP00000387869:H635Q	ENSP00000255432:H722Q	H	+	3	2	LGR6	200554376	0.186000	0.23225	0.965000	0.40720	0.983000	0.72400	-0.479000	0.06567	-0.228000	0.09869	-0.350000	0.07774	CAC		0.642	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1	NM_021636		3	35	0	0	0	1	0	3	35				
ZMYND8	23613	broad.mit.edu	37	20	45910870	45910870	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70C-01A-21D-A35D-08	TCGA-QR-A70C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4765d0df-a878-4492-8744-14674ed5fd2e	9def449a-5289-4f58-8bb7-5684a7dc9f64	g.chr20:45910870G>A	ENST00000311275.7	-	10	1167	c.914C>T	c.(913-915)gCc>gTc	p.A305V	ZMYND8_ENST00000461685.1_Missense_Mutation_p.A325V|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000355972.4_Missense_Mutation_p.A305V|ZMYND8_ENST00000396281.4_Missense_Mutation_p.A305V|ZMYND8_ENST00000352431.2_Missense_Mutation_p.A325V|ZMYND8_ENST00000360911.3_Missense_Mutation_p.A300V|ZMYND8_ENST00000372023.3_Missense_Mutation_p.A300V|ZMYND8_ENST00000458360.2_Missense_Mutation_p.A300V|ZMYND8_ENST00000536340.1_Missense_Mutation_p.A332V|ZMYND8_ENST00000262975.4_Missense_Mutation_p.A305V|ZMYND8_ENST00000446994.2_Missense_Mutation_p.A242V|ZMYND8_ENST00000471951.2_Missense_Mutation_p.A325V|ZMYND8_ENST00000540497.1_Missense_Mutation_p.A300V	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	305	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			AAAGAATCGGGCATCGACCTG	0.448																																						ENST00000311275.7																			0				NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62						c.(913-915)gCc>gTc		zinc finger, MYND-type containing 8							108.0	107.0	107.0					20																	45910870		2203	4300	6503	SO:0001583	missense	23613						protein binding|zinc ion binding	g.chr20:45910870G>A	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.914C>T	20.37:g.45910870G>A	ENSP00000312237:p.Ala305Val					ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000352431.2_Missense_Mutation_p.A325V|ZMYND8_ENST00000446994.2_Missense_Mutation_p.A242V|ZMYND8_ENST00000355972.4_Missense_Mutation_p.A305V|ZMYND8_ENST00000540497.1_Missense_Mutation_p.A300V|ZMYND8_ENST00000471951.2_Missense_Mutation_p.A325V|ZMYND8_ENST00000458360.2_Missense_Mutation_p.A300V|ZMYND8_ENST00000536340.1_Missense_Mutation_p.A332V|ZMYND8_ENST00000461685.1_Missense_Mutation_p.A325V|ZMYND8_ENST00000262975.4_Missense_Mutation_p.A305V|ZMYND8_ENST00000372023.3_Missense_Mutation_p.A300V|ZMYND8_ENST00000360911.3_Missense_Mutation_p.A300V|ZMYND8_ENST00000396281.4_Missense_Mutation_p.A305V	p.A305V			Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		10	1167	-			305			PWWP.		B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	ENST00000311275.7	37	c.914C>T		.	.	.	.	.	.	.	.	.	.	G	14.74	2.625415	0.46840	.	.	ENSG00000101040	ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497	T;T;T;T;T;T;T;T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06;1.06;1.06;1.06;1.06;1.06;1.06;1.06	6.03	6.03	0.97812	PWWP (2);	0.000000	0.85682	D	0.000000	T	0.22244	0.0536	N	0.00808	-1.17	0.52099	D	0.999949	B;B;P;B;P;B;B;B;B;P;P;P;B;P;P;B;B	0.40970	0.169;0.053;0.702;0.338;0.488;0.052;0.433;0.027;0.006;0.604;0.656;0.505;0.338;0.541;0.734;0.034;0.066	B;B;P;B;B;B;B;B;B;B;B;B;B;P;B;B;B	0.46629	0.267;0.061;0.522;0.394;0.394;0.017;0.273;0.061;0.017;0.273;0.394;0.394;0.394;0.522;0.203;0.134;0.134	T	0.32929	-0.9888	10	0.07325	T	0.83	-25.4729	18.7558	0.91832	0.0:0.0:1.0:0.0	.	300;332;300;300;299;325;305;300;325;325;305;242;300;300;325;300;305	B7ZM62;F5H0X3;Q2HXV7;Q2HXV3;Q5JV90;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q9ULU4-8;Q2HXV4;B7Z2A8	.;.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.;.	V	300;305;300;305;325;325;305;332;305;242;325;300;300	ENSP00000354166:A300V;ENSP00000312237:A305V;ENSP00000392964:A300V;ENSP00000262975:A305V;ENSP00000420095:A325V;ENSP00000335537:A325V;ENSP00000379577:A305V;ENSP00000439800:A332V;ENSP00000348246:A305V;ENSP00000396725:A242V;ENSP00000418210:A325V;ENSP00000361093:A300V;ENSP00000443086:A300V	ENSP00000262975:A305V	A	-	2	0	ZMYND8	45344277	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	8.062000	0.89475	2.868000	0.98415	0.557000	0.71058	GCC		0.448	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		5	68	0	0	0	1	0	5	68				
MYO1C	4641	broad.mit.edu	37	17	1381197	1381197	+	Silent	SNP	G	G	A			TCGA-QR-A70C-01A-21D-A35D-08	TCGA-QR-A70C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4765d0df-a878-4492-8744-14674ed5fd2e	9def449a-5289-4f58-8bb7-5684a7dc9f64	g.chr17:1381197G>A	ENST00000575158.1	-	13	1541	c.1365C>T	c.(1363-1365)atC>atT	p.I455I	MYO1C_ENST00000361007.2_Silent_p.I455I|MYO1C_ENST00000573198.1_5'Flank|MYO1C_ENST00000359786.5_Silent_p.I490I|MYO1C_ENST00000438665.2_Silent_p.I471I|MYO1C_ENST00000545534.2_Silent_p.I466I			Q12965	MYO1E_HUMAN	myosin IC	459	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AAATCGAGATGATGCCCTTAA	0.567																																						ENST00000359786.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(1468-1470)atC>atT		myosin IC							147.0	138.0	141.0					17																	1381197		2203	4300	6503	SO:0001819	synonymous_variant	4641				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:1381197G>A	X98507	CCDS11003.1, CCDS42226.1, CCDS45562.1	17p13.3	2011-09-27			ENSG00000197879	ENSG00000197879		"""Myosins / Myosin superfamily : Class I"""	7597	protein-coding gene	gene with protein product		606538				9119401	Standard	NM_001080779		Approved	myr2	uc002fsp.3	O00159	OTTHUMG00000090323	ENST00000575158.1:c.1365C>T	17.37:g.1381197G>A						MYO1C_ENST00000575158.1_Silent_p.I455I|MYO1C_ENST00000361007.2_Silent_p.I455I|MYO1C_ENST00000438665.2_Silent_p.I471I|MYO1C_ENST00000545534.2_Silent_p.I466I	p.I490I	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	13	1794	-			490			Myosin head-like.		Q14778	Silent	SNP	ENST00000575158.1	37	c.1470C>T	CCDS11003.1																																																																																				0.567	MYO1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438694.2			6	111	0	0	0	1	0	6	111				
NFE2L2	4780	broad.mit.edu	37	2	178095651	178095651	+	Silent	SNP	T	T	C	rs372010034		TCGA-QR-A70C-01A-21D-A35D-08	TCGA-QR-A70C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4765d0df-a878-4492-8744-14674ed5fd2e	9def449a-5289-4f58-8bb7-5684a7dc9f64	g.chr2:178095651T>C	ENST00000397062.3	-	5	2234	c.1680A>G	c.(1678-1680)ttA>ttG	p.L560L	NFE2L2_ENST00000446151.2_Silent_p.L537L|NFE2L2_ENST00000464747.1_Silent_p.L544L|NFE2L2_ENST00000397063.4_Silent_p.L544L	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	560	bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			CTTCGAGATATAAGGTGCTGA	0.358			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																												ENST00000397062.3				Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			"""NSCLC, HNSCC"""		0				central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158						c.(1678-1680)ttA>ttG		nuclear factor, erythroid 2-like 2		T	,,	0,3708		0,0,1854	206.0	186.0	192.0		1632,1611,1680	0.9	1.0	2		192	1,8183		0,1,4091	no	coding-synonymous,coding-synonymous,coding-synonymous	NFE2L2	NM_001145412.1,NM_001145413.1,NM_006164.3	,,	0,1,5945	CC,CT,TT		0.0122,0.0,0.0084	,,	544/590,537/583,560/606	178095651	1,11891	1854	4092	5946	SO:0001819	synonymous_variant	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178095651T>C		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.1680A>G	2.37:g.178095651T>C		HNSCC(56;0.16)				NFE2L2_ENST00000464747.1_Silent_p.L544L|NFE2L2_ENST00000446151.2_Silent_p.L537L|NFE2L2_ENST00000397063.4_Silent_p.L544L	p.L560L	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		5	2234	-			560					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Silent	SNP	ENST00000397062.3	37	c.1680A>G	CCDS42782.1																																																																																				0.358	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		6	103	0	0	0	1	0	6	103				
ZNF574	64763	broad.mit.edu	37	19	42584442	42584442	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QR-A70C-01A-21D-A35D-08	TCGA-QR-A70C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4765d0df-a878-4492-8744-14674ed5fd2e	9def449a-5289-4f58-8bb7-5684a7dc9f64	g.chr19:42584442C>T	ENST00000600245.1	+	2	2339	c.1684C>T	c.(1684-1686)Caa>Taa	p.Q562*	CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000359044.4_Nonsense_Mutation_p.Q562*|ZNF574_ENST00000222339.7_Nonsense_Mutation_p.Q652*			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	562					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				GGCTTTCACGCAAAGCTCCAC	0.632																																						ENST00000600245.1																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(1684-1686)Caa>Taa		zinc finger protein 574							86.0	85.0	86.0					19																	42584442		2203	4300	6503	SO:0001587	stop_gained	64763				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:42584442C>T	AK074788	CCDS12596.1	19q13.2	2013-09-20			ENSG00000105732	ENSG00000105732		"""Zinc fingers, C2H2-type"""	26166	protein-coding gene	gene with protein product						12477932	Standard	NM_022752		Approved	FLJ22059	uc002osm.4	Q6ZN55	OTTHUMG00000182751	ENST00000600245.1:c.1684C>T	19.37:g.42584442C>T	ENSP00000469029:p.Gln562*					ZNF574_ENST00000222339.7_Nonsense_Mutation_p.Q652*|ZNF574_ENST00000359044.4_Nonsense_Mutation_p.Q562*	p.Q562*			Q6ZN55	ZN574_HUMAN			2	2339	+		Prostate(69;0.059)	562					Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0	Nonsense_Mutation	SNP	ENST00000600245.1	37	c.1684C>T	CCDS12596.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.872875	0.51695	.	.	ENSG00000105732	ENST00000222339;ENST00000359044;ENST00000535775	.	.	.	5.18	5.18	0.71444	.	0.156455	0.43110	D	0.000616	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-15.3739	17.4592	0.87615	0.0:1.0:0.0:0.0	.	.	.	.	X	652;562;169	.	ENSP00000222339:Q652X	Q	+	1	0	ZNF574	47276282	0.185000	0.23213	0.129000	0.21949	0.024000	0.10985	2.144000	0.42197	2.418000	0.82041	0.650000	0.86243	CAA		0.632	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463458.1	NM_022752		5	74	0	0	0	1	0	5	74				
SDCCAG3	10807	broad.mit.edu	37	9	139302344	139302344	+	Silent	SNP	T	T	C			TCGA-QR-A70C-01A-21D-A35D-08	TCGA-QR-A70C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4765d0df-a878-4492-8744-14674ed5fd2e	9def449a-5289-4f58-8bb7-5684a7dc9f64	g.chr9:139302344T>C	ENST00000357365.3	-	4	465	c.336A>G	c.(334-336)agA>agG	p.R112R	PMPCA_ENST00000371720.1_5'Flank|SDCCAG3_ENST00000461693.1_5'Flank|SDCCAG3_ENST00000298537.7_Silent_p.R89R|PMPCA_ENST00000399219.3_5'Flank|SDCCAG3_ENST00000371725.3_Silent_p.R39R|PMPCA_ENST00000371717.3_5'Flank	NM_001039707.1	NP_001034796.1	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3	112						cytoplasm (GO:0005737)				NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		TCAGAAACTCTCTAAAAGAGA	0.453																																						ENST00000298537.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16						c.(265-267)agA>agG		serologically defined colon cancer antigen 3							103.0	106.0	105.0					9																	139302344		1869	4102	5971	SO:0001819	synonymous_variant	10807					cytoplasm		g.chr9:139302344T>C	AF039688	CCDS6999.2, CCDS43903.1, CCDS43904.1	9q34.3	2010-10-27			ENSG00000165689	ENSG00000165689			10667	protein-coding gene	gene with protein product						9610721	Standard	XM_005266050		Approved	NY-CO-3	uc004chi.3	Q96C92	OTTHUMG00000020928	ENST00000357365.3:c.336A>G	9.37:g.139302344T>C						SDCCAG3_ENST00000371725.3_Silent_p.R39R|SDCCAG3_ENST00000357365.3_Silent_p.R112R	p.R89R	NM_006643.3	NP_006634.3	Q96C92	SDCG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)	3	478	-		Myeloproliferative disorder(178;0.0511)	112					A6NCP1|O60525|Q5SXN1|Q5SXN2|Q5SXN3|Q5SXN4|Q5SXN8|Q6V704|Q9NVY5	Silent	SNP	ENST00000357365.3	37	c.267A>G	CCDS43904.1																																																																																				0.453	SDCCAG3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055060.2	NM_006643		5	62	0	0	0	1	0	5	62				
ZNF485	220992	broad.mit.edu	37	10	44112593	44112593	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A70C-01A-21D-A35D-08	TCGA-QR-A70C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4765d0df-a878-4492-8744-14674ed5fd2e	9def449a-5289-4f58-8bb7-5684a7dc9f64	g.chr10:44112593A>G	ENST00000361807.3	+	5	1296	c.1102A>G	c.(1102-1104)Acc>Gcc	p.T368A	ZNF485_ENST00000374435.3_Missense_Mutation_p.T368A|ZNF485_ENST00000374437.2_Missense_Mutation_p.T277A	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	368					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(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						AAAGAGCTCAACCCTTACTGG	0.443																																						ENST00000361807.3																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						c.(1102-1104)Acc>Gcc		zinc finger protein 485							97.0	86.0	89.0					10																	44112593		2203	4300	6503	SO:0001583	missense	220992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:44112593A>G	AK074679	CCDS7205.2	10q11.21	2013-01-08			ENSG00000198298	ENSG00000198298		"""Zinc fingers, C2H2-type"", ""-"""	23440	protein-coding gene	gene with protein product							Standard	NM_145312		Approved		uc010qfc.2	Q8NCK3	OTTHUMG00000018040	ENST00000361807.3:c.1102A>G	10.37:g.44112593A>G	ENSP00000354694:p.Thr368Ala					ZNF485_ENST00000374435.3_Missense_Mutation_p.T368A|ZNF485_ENST00000374437.2_Missense_Mutation_p.T277A	p.T368A	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN			5	1296	+			368					B4DSE6|Q96CL0	Missense_Mutation	SNP	ENST00000361807.3	37	c.1102A>G	CCDS7205.2	.	.	.	.	.	.	.	.	.	.	A	1.304	-0.604060	0.03717	.	.	ENSG00000198298	ENST00000361807;ENST00000374437;ENST00000374435	T;T;T	0.06849	3.25;3.25;3.25	1.86	-0.72	0.11195	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03305	0.0096	N	0.16066	0.365	0.09310	N	1	B	0.10296	0.003	B	0.15052	0.012	T	0.45440	-0.9261	9	0.05351	T	0.99	.	3.648	0.08192	0.3384:0.4835:0.1781:0.0	.	368	Q8NCK3	ZN485_HUMAN	A	368;277;368	ENSP00000354694:T368A;ENSP00000363560:T277A;ENSP00000363558:T368A	ENSP00000354694:T368A	T	+	1	0	ZNF485	43432599	0.000000	0.05858	0.000000	0.03702	0.974000	0.67602	-2.463000	0.00996	-0.196000	0.10366	0.260000	0.18958	ACC		0.443	ZNF485-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047719.2	NM_145312		9	33	0	0	0	1	0	9	33				
CDK5RAP3	80279	broad.mit.edu	37	17	46053346	46053346	+	Silent	SNP	C	C	T			TCGA-QR-A70C-01A-21D-A35D-08	TCGA-QR-A70C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4765d0df-a878-4492-8744-14674ed5fd2e	9def449a-5289-4f58-8bb7-5684a7dc9f64	g.chr17:46053346C>T	ENST00000338399.4	+	8	871	c.765C>T	c.(763-765)ctC>ctT	p.L255L	CDK5RAP3_ENST00000536708.2_Silent_p.L280L|RP11-6N17.9_ENST00000582262.1_RNA	NM_176096.1	NP_788276.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	255					brain development (GO:0007420)|protein ufmylation (GO:0071569)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of neuron differentiation (GO:0045664)	membrane (GO:0016020)	protein kinase binding (GO:0019901)			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						GACCCCACCTCGAGGAGCTTC	0.602																																						ENST00000536708.2																			0				NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						c.(838-840)ctC>ctT		CDK5 regulatory subunit associated protein 3							56.0	57.0	57.0					17																	46053346		2084	4201	6285	SO:0001819	synonymous_variant	80279				brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding	g.chr17:46053346C>T	AF110322	CCDS42356.1, CCDS62232.1	17q21.2	2008-07-18				ENSG00000108465			18673	protein-coding gene	gene with protein product	"""ischemic heart CDK5 activator-binding protein C53"", ""LXXLL/leucine-zipper-containing ARFbinding protein"""	608202				10721722	Standard	NM_176096		Approved	MST016, FLJ13660, C53, IC53, HSF-27, OK/SW-cl.114, LZAP	uc010wlc.3	Q96JB5		ENST00000338399.4:c.765C>T	17.37:g.46053346C>T						CDK5RAP3_ENST00000338399.4_Silent_p.L255L	p.L280L	NM_001278197.1	NP_001265126.1	Q96JB5	CK5P3_HUMAN			8	949	+			255					B7Z6N4|D3DTU1|D3DTU2|F5H3I5|Q53FA2|Q9H3F8|Q9H8G0|Q9HBR9	Silent	SNP	ENST00000338399.4	37	c.840C>T	CCDS42356.1																																																																																				0.602	CDK5RAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442913.1	NM_176096		3	28	0	0	0	1	0	3	28				
ZMYND8	23613	broad.mit.edu	37	20	45910871	45910871	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70C-01A-21D-A35D-08	TCGA-QR-A70C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4765d0df-a878-4492-8744-14674ed5fd2e	9def449a-5289-4f58-8bb7-5684a7dc9f64	g.chr20:45910871C>T	ENST00000311275.7	-	10	1166	c.913G>A	c.(913-915)Gcc>Acc	p.A305T	ZMYND8_ENST00000461685.1_Missense_Mutation_p.A325T|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000355972.4_Missense_Mutation_p.A305T|ZMYND8_ENST00000396281.4_Missense_Mutation_p.A305T|ZMYND8_ENST00000352431.2_Missense_Mutation_p.A325T|ZMYND8_ENST00000360911.3_Missense_Mutation_p.A300T|ZMYND8_ENST00000372023.3_Missense_Mutation_p.A300T|ZMYND8_ENST00000458360.2_Missense_Mutation_p.A300T|ZMYND8_ENST00000536340.1_Missense_Mutation_p.A332T|ZMYND8_ENST00000262975.4_Missense_Mutation_p.A305T|ZMYND8_ENST00000446994.2_Missense_Mutation_p.A242T|ZMYND8_ENST00000471951.2_Missense_Mutation_p.A325T|ZMYND8_ENST00000540497.1_Missense_Mutation_p.A300T	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	305	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			AAGAATCGGGCATCGACCTGC	0.448																																						ENST00000311275.7																			0				NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62						c.(913-915)Gcc>Acc		zinc finger, MYND-type containing 8							108.0	107.0	107.0					20																	45910871		2203	4300	6503	SO:0001583	missense	23613						protein binding|zinc ion binding	g.chr20:45910871C>T	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.913G>A	20.37:g.45910871C>T	ENSP00000312237:p.Ala305Thr					ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000352431.2_Missense_Mutation_p.A325T|ZMYND8_ENST00000446994.2_Missense_Mutation_p.A242T|ZMYND8_ENST00000355972.4_Missense_Mutation_p.A305T|ZMYND8_ENST00000540497.1_Missense_Mutation_p.A300T|ZMYND8_ENST00000471951.2_Missense_Mutation_p.A325T|ZMYND8_ENST00000458360.2_Missense_Mutation_p.A300T|ZMYND8_ENST00000536340.1_Missense_Mutation_p.A332T|ZMYND8_ENST00000461685.1_Missense_Mutation_p.A325T|ZMYND8_ENST00000262975.4_Missense_Mutation_p.A305T|ZMYND8_ENST00000372023.3_Missense_Mutation_p.A300T|ZMYND8_ENST00000360911.3_Missense_Mutation_p.A300T|ZMYND8_ENST00000396281.4_Missense_Mutation_p.A305T	p.A305T			Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		10	1166	-			305			PWWP.		B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	ENST00000311275.7	37	c.913G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.678897|5.678897	0.96764|0.96764	.|.	.|.	ENSG00000101040|ENSG00000101040	ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497|ENST00000467200	T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.71222|.	-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55|.	6.03|6.03	6.03|6.03	0.97812|0.97812	PWWP (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69593|0.69593	0.3128|0.3128	L|L	0.47716|0.47716	1.5|1.5	0.58432|0.58432	D|D	0.999992|0.999992	D;P;D;D;D;P;D;P;P;D;D;D;D;D;D;P;P|.	0.67145|.	0.996;0.913;0.964;0.964;0.98;0.911;0.975;0.913;0.69;0.975;0.98;0.964;0.964;0.964;0.993;0.929;0.929|.	D;P;D;D;D;P;P;P;P;P;D;D;D;D;P;P;P|.	0.67725|.	0.953;0.708;0.938;0.938;0.938;0.614;0.898;0.708;0.614;0.898;0.938;0.938;0.938;0.938;0.879;0.853;0.853|.	T|T	0.63642|0.63642	-0.6591|-0.6591	10|5	0.62326|.	D|.	0.03|.	-25.4729|-25.4729	18.7558|18.7558	0.91832|0.91832	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	300;332;300;300;299;325;305;300;325;325;305;242;300;300;325;300;305|.	B7ZM62;F5H0X3;Q2HXV7;Q2HXV3;Q5JV90;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q9ULU4-8;Q2HXV4;B7Z2A8|.	.;.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.;.|.	T|Y	300;305;300;305;325;325;305;332;305;242;325;300;300|231	ENSP00000354166:A300T;ENSP00000312237:A305T;ENSP00000392964:A300T;ENSP00000262975:A305T;ENSP00000420095:A325T;ENSP00000335537:A325T;ENSP00000379577:A305T;ENSP00000439800:A332T;ENSP00000348246:A305T;ENSP00000396725:A242T;ENSP00000418210:A325T;ENSP00000361093:A300T;ENSP00000443086:A300T|.	ENSP00000262975:A305T|.	A|C	-|-	1|2	0|0	ZMYND8|ZMYND8	45344278|45344278	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.987000|0.987000	0.75469|0.75469	7.818000|7.818000	0.86416|0.86416	2.868000|2.868000	0.98415|0.98415	0.557000|0.557000	0.71058|0.71058	GCC|TGC		0.448	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		5	67	0	0	0	1	0	5	67				
INPP1	3628	broad.mit.edu	37	2	191231466	191231466	+	Missense_Mutation	SNP	C	C	G			TCGA-QR-A70C-01A-21D-A35D-08	TCGA-QR-A70C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4765d0df-a878-4492-8744-14674ed5fd2e	9def449a-5289-4f58-8bb7-5684a7dc9f64	g.chr2:191231466C>G	ENST00000322522.4	+	4	767	c.311C>G	c.(310-312)gCa>gGa	p.A104G	INPP1_ENST00000392329.2_Missense_Mutation_p.A104G|INPP1_ENST00000541441.1_Missense_Mutation_p.A104G	NM_002194.3	NP_002185.1	P49441	INPP_HUMAN	inositol polyphosphate-1-phosphatase	104					dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol phosphorylation (GO:0046854)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	inositol-1,3,4-trisphosphate 1-phosphatase activity (GO:0052829)|inositol-1,4-bisphosphate 1-phosphatase activity (GO:0004441)|metal ion binding (GO:0046872)			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057)			GAGGAAACAGCAGAGCTTCTT	0.448																																					Melanoma(130;184 1743 2185 19805 38428)	ENST00000392329.2																			0				cervix(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	11						c.(310-312)gCa>gGa		inositol polyphosphate-1-phosphatase	Lithium(DB01356)						162.0	160.0	161.0					2																	191231466		2203	4300	6503	SO:0001583	missense	3628				signal transduction		inositol-1,4-bisphosphate 1-phosphatase activity|metal ion binding	g.chr2:191231466C>G		CCDS2305.1	2q32	2008-02-07			ENSG00000151689	ENSG00000151689	3.1.3.57		6071	protein-coding gene	gene with protein product		147263				8390685	Standard	NM_002194		Approved		uc010fsb.3	P49441	OTTHUMG00000132672	ENST00000322522.4:c.311C>G	2.37:g.191231466C>G	ENSP00000325423:p.Ala104Gly					INPP1_ENST00000322522.4_Missense_Mutation_p.A104G|INPP1_ENST00000541441.1_Missense_Mutation_p.A104G	p.A104G	NM_001128928.1	NP_001122400.1	P49441	INPP_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057)		5	1011	+			104						Missense_Mutation	SNP	ENST00000322522.4	37	c.311C>G	CCDS2305.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.047487	0.36085	.	.	ENSG00000151689	ENST00000392329;ENST00000322522;ENST00000541441;ENST00000431594;ENST00000444194;ENST00000458647;ENST00000423767;ENST00000409027	T;T;T;T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61	5.61	-2.27	0.06846	.	0.589442	0.18513	N	0.138997	T	0.22666	0.0547	L	0.49778	1.585	0.09310	N	1	B	0.17667	0.023	B	0.21360	0.034	T	0.25117	-1.0141	10	0.25106	T	0.35	-3.9546	9.05	0.36369	0.0:0.6077:0.2573:0.135	.	104	P49441	INPP_HUMAN	G	104	ENSP00000376142:A104G;ENSP00000325423:A104G;ENSP00000440650:A104G;ENSP00000409786:A104G;ENSP00000404732:A104G;ENSP00000392814:A104G;ENSP00000395424:A104G;ENSP00000387079:A104G	ENSP00000325423:A104G	A	+	2	0	INPP1	190939711	0.002000	0.14202	0.002000	0.10522	0.989000	0.77384	0.109000	0.15417	-0.351000	0.08249	-0.355000	0.07637	GCA		0.448	INPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255932.2			5	71	0	0	0	1	0	5	71				
KLHL7	55975	broad.mit.edu	37	7	23213904	23213904	+	Missense_Mutation	SNP	C	C	A			TCGA-QR-A70C-01A-21D-A35D-08	TCGA-QR-A70C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4765d0df-a878-4492-8744-14674ed5fd2e	9def449a-5289-4f58-8bb7-5684a7dc9f64	g.chr7:23213904C>A	ENST00000339077.5	+	11	1991	c.1748C>A	c.(1747-1749)aCc>aAc	p.T583N	KLHL7_ENST00000322231.7_Missense_Mutation_p.T561N|AC005082.1_ENST00000366347.4_Intron|KLHL7_ENST00000539124.1_Missense_Mutation_p.T507N|KLHL7_ENST00000545443.1_Missense_Mutation_p.T561N|KLHL7_ENST00000409689.1_Missense_Mutation_p.T535N|KLHL7_ENST00000542558.1_Missense_Mutation_p.T358N	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	583					protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AATGAAGAGACCCTTGAAACA	0.408																																						ENST00000322231.7																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1681-1683)aCc>aAc		kelch-like family member 7							110.0	110.0	110.0					7																	23213904		2203	4300	6503	SO:0001583	missense	55975					Golgi apparatus|nucleolus|plasma membrane		g.chr7:23213904C>A		CCDS5378.1, CCDS34609.1, CCDS5378.2, CCDS55095.1	7p15.3	2013-01-30	2013-01-30		ENSG00000122550	ENSG00000122550		"""Kelch-like"", ""BTB/POZ domain containing"""	15646	protein-coding gene	gene with protein product	"""retinitis pigmentosa 42"""	611119	"""kelch-like 7 (Drosophila)"""			19520207	Standard	NM_001031710		Approved	KLHL6, SBBI26, RP42	uc003svs.4	Q8IXQ5	OTTHUMG00000094813	ENST00000339077.5:c.1748C>A	7.37:g.23213904C>A	ENSP00000343273:p.Thr583Asn					KLHL7_ENST00000539124.1_Missense_Mutation_p.T507N|KLHL7_ENST00000409689.1_Missense_Mutation_p.T535N|KLHL7_ENST00000339077.4_Missense_Mutation_p.T583N|KLHL7_ENST00000545443.1_Missense_Mutation_p.T561N|AC005082.1_ENST00000366347.4_Intron|KLHL7_ENST00000542558.1_Missense_Mutation_p.T358N	p.T561N			Q8IXQ5	KLHL7_HUMAN			12	2172	+			583					A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Missense_Mutation	SNP	ENST00000339077.5	37	c.1682C>A	CCDS34609.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.332027	0.60853	.	.	ENSG00000122550	ENST00000538858;ENST00000322231;ENST00000339077;ENST00000539124;ENST00000542558;ENST00000409689;ENST00000545443	T;T;T;T;T;T	0.73363	-0.61;-0.61;-0.56;-0.74;-0.6;-0.61	5.05	5.05	0.67936	.	0.109676	0.64402	D	0.000005	T	0.68256	0.2981	N	0.08118	0	0.58432	D	0.999997	P;P;P	0.42039	0.659;0.659;0.769	B;B;P	0.49332	0.403;0.403;0.607	T	0.75382	-0.3337	10	0.66056	D	0.02	.	18.775	0.91908	0.0:1.0:0.0:0.0	.	358;583;561	B7Z3P9;Q8IXQ5;Q8IXQ5-2	.;KLHL7_HUMAN;.	N	424;561;583;507;358;535;561	ENSP00000322958:T561N;ENSP00000343273:T583N;ENSP00000441136:T507N;ENSP00000442367:T358N;ENSP00000386263:T535N;ENSP00000442366:T561N	ENSP00000322958:T561N	T	+	2	0	KLHL7	23180429	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.565000	0.73974	2.506000	0.84524	0.655000	0.94253	ACC		0.408	KLHL7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326860.3	NM_018846		20	35	1	0	1.28384e-07	1	1.38655e-07	20	35				
SCD	6319	broad.mit.edu	37	10	102104600	102104601	+	5'Flank	INS	-	-	T	rs373775876|rs372515653		TCGA-QR-A70C-01A-21D-A35D-08	TCGA-QR-A70C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4765d0df-a878-4492-8744-14674ed5fd2e	9def449a-5289-4f58-8bb7-5684a7dc9f64	g.chr10:102104600_102104601insT	ENST00000370355.2	+	0	0				RP11-34D15.2_ENST00000429420.1_RNA	NM_005063.4	NP_005054.3	O00767	ACOD_HUMAN	stearoyl-CoA desaturase (delta-9-desaturase)						fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			endometrium(1)|large_intestine(3)|lung(5)	9		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		AAAAATCACAAttttttttttt	0.401																																					Colon(67;260 1459 9574 11663)	ENST00000429420.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr10:102104600_102104601insT	AF097514	CCDS7493.1	10q23-q24	2013-01-25			ENSG00000099194	ENSG00000099194	1.14.19.1	"""Fatty acid desaturases"""	10571	protein-coding gene	gene with protein product	"""acyl-CoA desaturase"", ""fatty acid desaturase"", ""delta-9-desaturase"""	604031	"""stearoyl-CoA desaturase opposite strand"""	SCDOS		7909540, 10229681	Standard	NM_005063		Approved	FADS5	uc001kqy.3	O00767	OTTHUMG00000018906		10.37:g.102104611_102104611dupT	Exception_encountered													0	103	-								B2R5U0|D3DR68|Q16150|Q53GR9|Q5W037|Q5W038|Q6GSS4|Q96KF6|Q9BS07|Q9Y695	RNA	INS	ENST00000370355.2	37		CCDS7493.1																																																																																				0.401	SCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049857.2	NM_005063		2	4						2	4	---	---	---	---
OR5P4P	81185	broad.mit.edu	37	11	7768343	7768343	+	lincRNA	DEL	T	T	-			TCGA-QR-A70C-01A-21D-A35D-08	TCGA-QR-A70C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4765d0df-a878-4492-8744-14674ed5fd2e	9def449a-5289-4f58-8bb7-5684a7dc9f64	g.chr11:7768343delT	ENST00000527565.1	-	0	542																											CAAGGTGGCATTTGTGATCTA	0.473																																						ENST00000527565.1																			0																																																			81185							g.chr11:7768343delT																													11.37:g.7768343delT														0	542	-									RNA	DEL	ENST00000527565.1	37																																																																																						0.473	RP11-35J10.5-001	KNOWN	basic|readthrough_transcript	lincRNA	lincRNA	OTTHUMT00000385692.1			2	4						2	4	---	---	---	---
MS4A4E	643680	broad.mit.edu	37	11	59982050	59982050	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QR-A70C-01A-21D-A35D-08	TCGA-QR-A70C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4765d0df-a878-4492-8744-14674ed5fd2e	9def449a-5289-4f58-8bb7-5684a7dc9f64	g.chr11:59982050delT	ENST00000528394.1	-	3	310	c.311delA	c.(310-312)aagfs	p.K104fs	MS4A4E_ENST00000398986.2_Frame_Shift_Del_p.K72fs|MS4A4E_ENST00000425663.1_Frame_Shift_Del_p.K61fs|MS4A4E_ENST00000427611.2_Frame_Shift_Del_p.K91fs|MS4A4E_ENST00000398984.2_Frame_Shift_Del_p.K104fs|MS4A4E_ENST00000526086.1_Frame_Shift_Del_p.K72fs			Q96PG1	M4A4E_HUMAN	membrane-spanning 4-domains, subfamily A, member 4E	104						integral component of membrane (GO:0016021)				ovary(1)	1						TCACCAGACCTTTTGTTGTTC	0.308																																						ENST00000427611.2																			0				ovary(1)	1						c.(271-273)agfs		membrane-spanning 4-domains, subfamily A, member 4E																																				SO:0001589	frameshift_variant	643680							g.chr11:59982050delT	AF354936		11q12.2	2012-04-20			ENSG00000214787	ENSG00000214787			14284	protein-coding gene	gene with protein product		608401				11486273	Standard	XM_005275707		Approved		uc001noy.2	Q96PG1	OTTHUMG00000167354	ENST00000528394.1:c.311delA	11.37:g.59982050delT	ENSP00000436446:p.Lys104fs					MS4A4E_ENST00000398984.2_Frame_Shift_Del_p.K104fs|MS4A4E_ENST00000425663.1_Frame_Shift_Del_p.K61fs|MS4A4E_ENST00000526086.1_Frame_Shift_Del_p.K72fs|MS4A4E_ENST00000528394.1_Frame_Shift_Del_p.K104fs|MS4A4E_ENST00000398986.2_Frame_Shift_Del_p.K72fs	p.K91fs							5	491	-								Q3C1W1|Q3C1W3|Q3C1W4	Frame_Shift_Del	DEL	ENST00000528394.1	37	c.272delA																																																																																					0.308	MS4A4E-003	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000394290.1	XM_003119183		2	4						2	4	---	---	---	---
ANKK1	255239	broad.mit.edu	37	11	113268739	113268740	+	Splice_Site	DEL	GT	GT	-			TCGA-QR-A70C-01A-21D-A35D-08	TCGA-QR-A70C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4765d0df-a878-4492-8744-14674ed5fd2e	9def449a-5289-4f58-8bb7-5684a7dc9f64	g.chr11:113268739_113268740delGT	ENST00000303941.3	+	7	1088		c.e7+1			NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1								ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		ATGGACAGTGGTGAGTCTGGGT	0.599																																						ENST00000303941.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29						c.e7+1		ankyrin repeat and kinase domain containing 1																																				SO:0001630	splice_region_variant	255239						ATP binding|protein serine/threonine kinase activity	g.chr11:113268739_113268740delGT	AJ541797	CCDS44734.1	11q23.2	2013-01-10			ENSG00000170209	ENSG00000170209		"""Ankyrin repeat domain containing"""	21027	protein-coding gene	gene with protein product		608774				15146457	Standard	NM_178510		Approved	X-kinase	uc001pny.3	Q8NFD2	OTTHUMG00000167715	ENST00000303941.3:c.994+1GT>-	11.37:g.113268739_113268740delGT								NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)	7	1088	+		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)							Splice_Site	DEL	ENST00000303941.3	37		CCDS44734.1																																																																																				0.599	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395830.1	NM_178510	Intron	2	4						2	4	---	---	---	---
SCML2	10389	broad.mit.edu	37	X	18283726	18283726	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QR-A70C-01A-21D-A35D-08	TCGA-QR-A70C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4765d0df-a878-4492-8744-14674ed5fd2e	9def449a-5289-4f58-8bb7-5684a7dc9f64	g.chrX:18283726delT	ENST00000251900.4	-	8	1086	c.927delA	c.(925-927)aaafs	p.K309fs	SCML2_ENST00000398048.3_Frame_Shift_Del_p.K45fs	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	309					anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					AGTTTGGACCTTTTTTCCTTG	0.358																																					Esophageal Squamous(100;1252 1965 19021 35517)	ENST00000251900.4																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36						c.(925-927)aafs		sex comb on midleg-like 2 (Drosophila)							204.0	191.0	195.0					X																	18283726		2203	4300	6503	SO:0001589	frameshift_variant	10389				anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:18283726delT	Y18004	CCDS14185.1	Xp22	2013-01-10	2001-11-28		ENSG00000102098	ENSG00000102098		"""Sterile alpha motif (SAM) domain containing"""	10581	protein-coding gene	gene with protein product		300208	"""sex comb on midleg (Drosophila)-like 2"""			10331946	Standard	NM_006089		Approved		uc004cyl.2	Q9UQR0	OTTHUMG00000021212	ENST00000251900.4:c.927delA	X.37:g.18283726delT	ENSP00000251900:p.Lys309fs					SCML2_ENST00000398048.3_Frame_Shift_Del_p.K45fs	p.K309fs	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN			8	1086	-	Hepatocellular(33;0.183)		309					Q5JXE6|Q86U98|Q8IWD0|Q8NDP2|Q9UGC5	Frame_Shift_Del	DEL	ENST00000251900.4	37	c.927delA	CCDS14185.1																																																																																				0.358	SCML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055941.1	NM_006089		7	162						7	162	---	---	---	---
