#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
MUC16	94025	broad.mit.edu	37	19	9087741	9087741	+	Silent	SNP	G	G	A	rs146223906	byFrequency	TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr19:9087741G>A	ENST00000397910.4	-	1	4277	c.4074C>T	c.(4072-4074)tcC>tcT	p.S1358S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1358	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S1358S(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGGGGTGGCGGACTCTGTCT	0.502													G|||	5	0.000998403	0.0023	0.0014	5008	,	,		21383	0.001		0.0	False		,,,				2504	0.0					ENST00000397910.4																			2	Substitution - coding silent(2)	p.S1358S(2)	endometrium(2)	NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(4072-4074)tcC>tcT		mucin 16, cell surface associated		G		3,4395	4.2+/-10.8	0,3,2196	180.0	183.0	182.0		4074	-0.7	0.0	19	dbSNP_134	182	0,8598		0,0,4299	no	coding-synonymous	MUC16	NM_024690.2		0,3,6495	AA,AG,GG		0.0,0.0682,0.0231		1358/14508	9087741	3,12993	2199	4299	6498	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9087741G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.4074C>T	19.37:g.9087741G>A							p.S1358S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	4277	-			1358			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.4074C>T	CCDS54212.1																																																																																				0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		19	26	0	0	0	1	0	19	26				
SNX32	254122	broad.mit.edu	37	11	65620244	65620244	+	Silent	SNP	C	C	A	rs144634991	byFrequency	TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr11:65620244C>A	ENST00000308342.6	+	11	1481	c.1056C>A	c.(1054-1056)tcC>tcA	p.S352S		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	352					intracellular protein transport (GO:0006886)	endosome (GO:0005768)	phosphatidylinositol binding (GO:0035091)			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		AGCGCCTCTCCGACTCCGCCA	0.701																																						ENST00000308342.6																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1054-1056)tcC>tcA		sorting nexin 32							27.0	31.0	29.0					11																	65620244		2199	4291	6490	SO:0001819	synonymous_variant	254122				cell communication|protein transport		phosphatidylinositol binding	g.chr11:65620244C>A	AK055496	CCDS8113.2	11q13.1	2008-03-11	2008-03-11	2008-03-11	ENSG00000172803	ENSG00000172803		"""Sorting nexins"""	26423	protein-coding gene	gene with protein product			"""sorting nexin 6B"""	SNX6B		16782399	Standard	XM_005273871		Approved	FLJ30934	uc001ofr.3	Q86XE0	OTTHUMG00000128491	ENST00000308342.6:c.1056C>A	11.37:g.65620244C>A							p.S352S	NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN		READ - Rectum adenocarcinoma(159;0.171)	11	1481	+			352					Q8IW53|Q96NG4	Silent	SNP	ENST00000308342.6	37	c.1056C>A	CCDS8113.2																																																																																				0.701	SNX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250295.3	NM_152760		8	14	1	0	1.06961e-07	1	1.14601e-07	8	14				
EVC2	132884	broad.mit.edu	37	4	5642366	5642366	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr4:5642366G>A	ENST00000344408.5	-	10	1398	c.1345C>T	c.(1345-1347)Cgg>Tgg	p.R449W	EVC2_ENST00000344938.1_Missense_Mutation_p.R449W|EVC2_ENST00000310917.2_Missense_Mutation_p.R369W	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	449					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						ACCATCTTCCGATCGTACTCC	0.443																																						ENST00000310917.2																			0				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						c.(1105-1107)Cgg>Tgg		Ellis van Creveld syndrome 2							318.0	290.0	300.0					4																	5642366		2203	4300	6503	SO:0001583	missense	132884					integral to membrane		g.chr4:5642366G>A	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.1345C>T	4.37:g.5642366G>A	ENSP00000342144:p.Arg449Trp					EVC2_ENST00000344408.5_Missense_Mutation_p.R449W|EVC2_ENST00000344938.1_Missense_Mutation_p.R449W	p.R369W	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN			10	1836	-			449					Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	37	c.1105C>T	CCDS3382.2	.	.	.	.	.	.	.	.	.	.	G	16.75	3.210828	0.58343	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.80033	-1.33;-1.33;-1.33	4.25	3.33	0.38152	.	0.122898	0.53938	D	0.000051	D	0.86564	0.5963	M	0.69823	2.125	0.42253	D	0.991984	D	0.89917	1.0	D	0.74348	0.983	D	0.86889	0.2047	10	0.59425	D	0.04	-20.562	9.7044	0.40207	0.0:0.0:0.6107:0.3893	.	449	Q86UK5	LBN_HUMAN	W	449;369;449	ENSP00000339954:R449W;ENSP00000311683:R369W;ENSP00000342144:R449W	ENSP00000311683:R369W	R	-	1	2	EVC2	5693267	0.988000	0.35896	0.990000	0.47175	0.706000	0.40770	2.558000	0.45879	2.074000	0.62210	0.591000	0.81541	CGG		0.443	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127		7	146	0	0	0	1	0	7	146				
SYCE2	256126	broad.mit.edu	37	19	13029100	13029100	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr19:13029100C>T	ENST00000293695.7	-	2	85	c.67G>A	c.(67-69)Gag>Aag	p.E23K	MIR5695_ENST00000579717.1_RNA	NM_001105578.1	NP_001099048.1	Q6PIF2	SYCE2_HUMAN	synaptonemal complex central element protein 2	23					synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						TCCTTGCTCTCCCCCAAGGGC	0.607																																						ENST00000293695.7																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						c.(67-69)Gag>Aag		synaptonemal complex central element protein 2							82.0	89.0	86.0					19																	13029100		2114	4223	6337	SO:0001583	missense	256126				cell division	central element		g.chr19:13029100C>T	AK097443	CCDS42509.1	19p13.13	2008-02-05				ENSG00000161860			27411	protein-coding gene	gene with protein product	"""central element synaptonemal complex 1"""	611487				15944401	Standard	NM_001105578		Approved	CESC1	uc002mvr.2	Q6PIF2		ENST00000293695.7:c.67G>A	19.37:g.13029100C>T	ENSP00000293695:p.Glu23Lys						p.E23K	NM_001105578.1	NP_001099048.1	Q6PIF2	SYCE2_HUMAN			2	85	-			23					B4DYD3	Missense_Mutation	SNP	ENST00000293695.7	37	c.67G>A	CCDS42509.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.096615	0.36952	.	.	ENSG00000161860	ENST00000293695	.	.	.	3.31	1.17	0.20885	.	1.029480	0.07797	N	0.955892	T	0.27559	0.0677	L	0.47716	1.5	0.09310	N	1	P	0.36535	0.557	B	0.30646	0.118	T	0.26573	-1.0099	9	0.72032	D	0.01	-0.3733	5.088	0.14693	0.0:0.7218:0.0:0.2782	.	23	Q6PIF2	SYCE2_HUMAN	K	23	.	ENSP00000293695:E23K	E	-	1	0	SYCE2	12890100	0.005000	0.15991	0.004000	0.12327	0.096000	0.18686	1.030000	0.30153	0.409000	0.25649	0.561000	0.74099	GAG		0.607	SYCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451913.1	XM_497609		10	35	0	0	0	1	0	10	35				
AAMP	14	broad.mit.edu	37	2	219129773	219129773	+	Missense_Mutation	SNP	G	G	A	rs370095659		TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr2:219129773G>A	ENST00000248450.4	-	10	1369	c.1199C>T	c.(1198-1200)aCg>aTg	p.T400M	AAMP_ENST00000444053.1_Missense_Mutation_p.T401M|AAMP_ENST00000420660.1_Missense_Mutation_p.T381M			Q13685	AAMP_HUMAN	angio-associated, migratory cell protein	400					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|positive regulation of endothelial cell migration (GO:0010595)|smooth muscle cell migration (GO:0014909)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GATCTCAGCCGTGTGGCCCCG	0.592																																						ENST00000248450.4																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11						c.(1198-1200)aCg>aTg		angio-associated, migratory cell protein							81.0	88.0	86.0					2																	219129773		2203	4300	6503	SO:0001583	missense	14				angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration	cell surface|cytoplasm|plasma membrane	heparin binding	g.chr2:219129773G>A	AB209790	CCDS33378.1	2q	2013-01-10			ENSG00000127837	ENSG00000127837		"""WD repeat domain containing"""	18	protein-coding gene	gene with protein product		603488				7743515	Standard	XM_005246325		Approved		uc002vhk.3	Q13685	OTTHUMG00000155202	ENST00000248450.4:c.1199C>T	2.37:g.219129773G>A	ENSP00000248450:p.Thr400Met					AAMP_ENST00000444053.1_Missense_Mutation_p.T401M|AAMP_ENST00000420660.1_Missense_Mutation_p.T381M	p.T400M			Q13685	AAMP_HUMAN		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	10	1369	-		Renal(207;0.0474)	400					Q8WUJ9|Q96H92	Missense_Mutation	SNP	ENST00000248450.4	37	c.1199C>T	CCDS33378.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.49|15.49	2.847958|2.847958	0.51164|0.51164	.|.	.|.	ENSG00000127837|ENSG00000127837	ENST00000422731|ENST00000248450;ENST00000444053;ENST00000420660	.|T;T;T	.|0.65549	.|-0.16;-0.16;-0.16	5.6|5.6	3.8|3.8	0.43715|0.43715	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.|0.367618	.|0.32548	.|N	.|0.005942	T|T	0.73458|0.73458	0.3589|0.3589	M|M	0.81239|0.81239	2.535|2.535	0.42232|0.42232	D|D	0.991892|0.991892	.|D;D;D	.|0.65815	.|0.988;0.992;0.995	.|P;P;P	.|0.55545	.|0.703;0.684;0.778	T|T	0.76179|0.76179	-0.3054|-0.3054	5|10	.|0.59425	.|D	.|0.04	-1.1235|-1.1235	11.9109|11.9109	0.52739|0.52739	0.1403:0.0:0.8597:0.0|0.1403:0.0:0.8597:0.0	.|.	.|401;400;381	.|C9JEH3;Q13685;C9JG97	.|.;AAMP_HUMAN;.	W|M	155|400;401;381	.|ENSP00000248450:T400M;ENSP00000403343:T401M;ENSP00000416394:T381M	.|ENSP00000248450:T400M	R|T	-|-	1|2	2|0	AAMP|AAMP	218838017|218838017	1.000000|1.000000	0.71417|0.71417	0.600000|0.600000	0.28864|0.28864	0.462000|0.462000	0.32619|0.32619	4.520000|4.520000	0.60524|0.60524	0.744000|0.744000	0.32741|0.32741	0.561000|0.561000	0.74099|0.74099	CGG|ACG		0.592	AAMP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338756.1	NM_001087		4	98	0	0	0	1	0	4	98				
PCDHA10	56139	broad.mit.edu	37	5	140237249	140237249	+	Missense_Mutation	SNP	G	G	C	rs201104305		TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr5:140237249G>C	ENST00000307360.5	+	1	1616	c.1616G>C	c.(1615-1617)gGg>gCg	p.G539A	PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	539	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.G539A(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGCGATGGGGGCGTGCCG	0.687																																						ENST00000307360.5																			2	Substitution - Missense(2)	p.G539A(2)	urinary_tract(1)|kidney(1)	NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79						c.(1615-1617)gGg>gCg									53.0	57.0	56.0					5																	140237249		2196	4266	6462	SO:0001583	missense	0							g.chr5:140237249G>C	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1616G>C	5.37:g.140237249G>C	ENSP00000304234:p.Gly539Ala					PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	p.G539A	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1616	+								A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.1616G>C	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.655795	0.00108	.	.	ENSG00000250120	ENST00000307360	T	0.50277	0.75	3.63	2.76	0.32466	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.32102	0.0818	L	0.31752	0.955	0.21841	N	0.999515	B;B	0.06786	0.001;0.001	B;B	0.14578	0.011;0.009	T	0.17653	-1.0362	9	0.02654	T	1	.	13.5065	0.61486	0.0:0.7018:0.2982:0.0	.	539;539	Q9Y5I2-3;Q9Y5I2	.;PCDAA_HUMAN	A	539	ENSP00000304234:G539A	ENSP00000304234:G539A	G	+	2	0	PCDHA10	140217433	0.000000	0.05858	0.992000	0.48379	0.064000	0.16182	0.168000	0.16622	0.861000	0.35504	-0.220000	0.12472	GGG		0.687	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		4	107	0	0	0	1	0	4	107				
FBN3	84467	broad.mit.edu	37	19	8153043	8153043	+	Missense_Mutation	SNP	C	C	T	rs138232748	byFrequency	TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr19:8153043C>T	ENST00000600128.1	-	52	6811	c.6397G>A	c.(6397-6399)Ggc>Agc	p.G2133S	FBN3_ENST00000601739.1_Missense_Mutation_p.G2133S|FBN3_ENST00000270509.2_Missense_Mutation_p.G2133S			Q75N90	FBN3_HUMAN	fibrillin 3	2133	EGF-like 34; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.G2133S(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CAGGGGTGGCCGACAGAGCAC	0.612													C|||	2	0.000399361	0.0008	0.0	5008	,	,		20255	0.001		0.0	False		,,,				2504	0.0					ENST00000600128.1																			1	Substitution - Missense(1)	p.G2133S(1)	large_intestine(1)	NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(6397-6399)Ggc>Agc		fibrillin 3		C	SER/GLY	0,4406		0,0,2203	99.0	83.0	89.0		6397	3.0	0.0	19	dbSNP_134	89	1,8599	1.2+/-3.3	0,1,4299	yes	missense	FBN3	NM_032447.3	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	2133/2810	8153043	1,13005	2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8153043C>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.6397G>A	19.37:g.8153043C>T	ENSP00000470498:p.Gly2133Ser					FBN3_ENST00000270509.2_Missense_Mutation_p.G2133S|FBN3_ENST00000601739.1_Missense_Mutation_p.G2133S	p.G2133S			Q75N90	FBN3_HUMAN			52	6811	-			2133			EGF-like 34; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.6397G>A	CCDS12196.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	C	16.36	3.100602	0.56183	0.0	1.16E-4	ENSG00000142449	ENST00000270509;ENST00000341066	D	0.92911	-3.13	4.03	2.98	0.34508	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.061014	0.64402	U	0.000004	D	0.90000	0.6878	N	0.11698	0.16	0.54753	D	0.999982	D	0.89917	1.0	D	0.87578	0.998	D	0.87153	0.2210	10	0.32370	T	0.25	.	9.92	0.41459	0.0:0.8242:0.0:0.1758	.	2133	Q75N90	FBN3_HUMAN	S	2133;239	ENSP00000270509:G2133S	ENSP00000270509:G2133S	G	-	1	0	FBN3	8059043	0.999000	0.42202	0.022000	0.16811	0.424000	0.31475	4.435000	0.59941	0.800000	0.34041	0.313000	0.20887	GGC		0.612	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		3	48	0	0	0	1	0	3	48				
RBM44	375316	broad.mit.edu	37	2	238737875	238737875	+	Silent	SNP	T	T	C			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr2:238737875T>C	ENST00000409864.1	+	13	2873	c.2619T>C	c.(2617-2619)gcT>gcC	p.A873A	RBM44_ENST00000316997.4_Silent_p.A873A			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	872	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.					cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)	nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		CATCTCTTGCTTTTACAAAAA	0.323																																						ENST00000316997.4																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(2617-2619)gcT>gcC		RNA binding motif protein 44							66.0	64.0	64.0					2																	238737875		1818	4080	5898	SO:0001819	synonymous_variant	375316						nucleotide binding|RNA binding	g.chr2:238737875T>C	AK097730	CCDS46554.1	2q37.3	2013-02-12			ENSG00000177483	ENSG00000177483		"""RNA binding motif (RRM) containing"""	24756	protein-coding gene	gene with protein product							Standard	NM_001080504		Approved	FLJ40411	uc002vxi.4	Q6ZP01	OTTHUMG00000152937	ENST00000409864.1:c.2619T>C	2.37:g.238737875T>C						RBM44_ENST00000409864.1_Silent_p.A873A	p.A873A	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)	13	2751	+		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	872			RRM.		A0AUW3	Silent	SNP	ENST00000409864.1	37	c.2619T>C	CCDS46554.1																																																																																				0.323	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328733.2	NM_001080504		2	4	0	0	0	1	0	2	4				
NDST4	64579	broad.mit.edu	37	4	115767000	115767000	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr4:115767000G>C	ENST00000264363.2	-	10	2772	c.2094C>G	c.(2092-2094)gaC>gaG	p.D698E		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	698	Heparan sulfate N-sulfotransferase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		AGTATGCCCTGTCTGAGGGGT	0.423																																						ENST00000264363.2																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(2092-2094)gaC>gaG		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4							122.0	116.0	118.0					4																	115767000		2203	4300	6503	SO:0001583	missense	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115767000G>C	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.2094C>G	4.37:g.115767000G>C	ENSP00000264363:p.Asp698Glu						p.D698E	NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	10	2772	-		Ovarian(17;0.156)	698			Heparan sulfate N-sulfotransferase 4.		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	c.2094C>G	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.214702	0.39102	.	.	ENSG00000138653	ENST00000264363	D	0.87334	-2.24	5.61	2.99	0.34606	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	T	0.81702	0.4878	L	0.45352	1.415	0.42707	D	0.993632	B	0.28850	0.225	B	0.34991	0.193	T	0.72564	-0.4255	10	0.30854	T	0.27	.	8.4982	0.33141	0.3599:0.0:0.6401:0.0	.	698	Q9H3R1	NDST4_HUMAN	E	698	ENSP00000264363:D698E	ENSP00000264363:D698E	D	-	3	2	NDST4	115986449	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.498000	0.35660	0.328000	0.23435	0.655000	0.94253	GAC		0.423	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		15	40	0	0	0	1	0	15	40				
SPDYC	387778	broad.mit.edu	37	11	64940198	64940198	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr11:64940198G>A	ENST00000377185.2	+	6	642	c.560G>A	c.(559-561)cGg>cAg	p.R187Q	AP003068.18_ENST00000534819.1_RNA	NM_001008778.1	NP_001008778.1			speedy/RINGO cell cycle regulator family member C											breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						ACTCGGGACCGGCGCCCCCAC	0.667																																						ENST00000377185.2																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						c.(559-561)cGg>cAg		speedy/RINGO cell cycle regulator family member C							40.0	43.0	42.0					11																	64940198		2201	4297	6498	SO:0001583	missense	387778				cell cycle	nucleus	protein kinase binding	g.chr11:64940198G>A	AY820305	CCDS31606.1	11q13.1	2013-05-08	2013-05-08		ENSG00000204710	ENSG00000204710		"""Speedy homologs"""	32681	protein-coding gene	gene with protein product		614030	"""speedy homolog C (Xenopus laevis)"""			15611625	Standard	NM_001008778		Approved	Ringo2	uc010rnz.2	Q5MJ68	OTTHUMG00000165611	ENST00000377185.2:c.560G>A	11.37:g.64940198G>A	ENSP00000366390:p.Arg187Gln						p.R187Q	NM_001008778.1	NP_001008778.1	Q5MJ68	SPDYC_HUMAN			6	642	+			187			Speedy/Ringo box; Required for CDK- binding (By similarity).			Missense_Mutation	SNP	ENST00000377185.2	37	c.560G>A	CCDS31606.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.036701	0.93630	.	.	ENSG00000204710	ENST00000377185	.	.	.	5.26	3.36	0.38483	.	0.000000	0.47455	D	0.000233	T	0.50990	0.1648	M	0.85777	2.775	0.27348	N	0.956325	D	0.57571	0.98	P	0.47981	0.563	T	0.52845	-0.8521	9	0.59425	D	0.04	.	8.7822	0.34798	0.1873:0.0:0.8127:0.0	.	187	Q5MJ68	SPDYC_HUMAN	Q	187	.	ENSP00000366390:R187Q	R	+	2	0	SPDYC	64696774	0.855000	0.29742	0.001000	0.08648	0.977000	0.68977	4.354000	0.59417	0.592000	0.29728	0.655000	0.94253	CGG		0.667	SPDYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385299.1	NM_001008778		17	21	0	0	0	1	0	17	21				
BMPER	168667	broad.mit.edu	37	7	34192862	34192862	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr7:34192862C>A	ENST00000297161.2	+	16	2409	c.2035C>A	c.(2035-2037)Cca>Aca	p.P679T	BMPER_ENST00000426693.1_Missense_Mutation_p.P679T	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	679	TIL.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GTGCATCAAGCCAGTCCTTTG	0.507																																						ENST00000297161.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(2035-2037)Cca>Aca		BMP binding endothelial regulator							144.0	113.0	124.0					7																	34192862		2203	4300	6503	SO:0001583	missense	168667				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		g.chr7:34192862C>A		CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"""crossveinless-2"""	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.2035C>A	7.37:g.34192862C>A	ENSP00000297161:p.Pro679Thr					BMPER_ENST00000426693.1_Missense_Mutation_p.P679T	p.P679T	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN			16	2409	+			679			TIL.		A8K1P8|Q8TF36	Missense_Mutation	SNP	ENST00000297161.2	37	c.2035C>A	CCDS5442.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.869224	0.91587	.	.	ENSG00000164619	ENST00000297161;ENST00000426693	T;T	0.79845	-1.31;-1.31	6.03	6.03	0.97812	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2);	0.000000	0.85682	D	0.000000	D	0.89928	0.6857	M	0.83852	2.665	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	D	0.85387	0.1123	10	0.13470	T	0.59	.	20.5753	0.99366	0.0:1.0:0.0:0.0	.	679	Q8N8U9	BMPER_HUMAN	T	679	ENSP00000297161:P679T;ENSP00000393950:P679T	ENSP00000297161:P679T	P	+	1	0	BMPER	34159387	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.487000	0.81328	2.868000	0.98415	0.557000	0.71058	CCA		0.507	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	NM_133468		18	37	1	0	1.67942e-08	1	1.84326e-08	18	37				
UBLCP1	134510	broad.mit.edu	37	5	158696066	158696066	+	Missense_Mutation	SNP	T	T	G			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr5:158696066T>G	ENST00000296786.6	+	2	469	c.143T>G	c.(142-144)cTc>cGc	p.L48R		NM_145049.3	NP_659486.2	Q8WVY7	UBCP1_HUMAN	ubiquitin-like domain containing CTD phosphatase 1	48	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.					nucleolus (GO:0005730)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)			endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTACTTGGACTCAAAGTTAAA	0.318																																						ENST00000296786.6																			0				endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9						c.(142-144)cTc>cGc		ubiquitin-like domain containing CTD phosphatase 1							83.0	80.0	81.0					5																	158696066		2203	4300	6503	SO:0001583	missense	134510					nucleus	phosphoprotein phosphatase activity	g.chr5:158696066T>G	AK057996	CCDS4345.1	5q33.3	2010-06-21			ENSG00000164332	ENSG00000164332	3.1.3.16	"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	28110	protein-coding gene	gene with protein product	"""CTD phosphatase-like with ubiquitin domain 1"""	609867				15883030	Standard	NM_145049		Approved	MGC10067, CPUB1	uc003lxq.2	Q8WVY7	OTTHUMG00000130305	ENST00000296786.6:c.143T>G	5.37:g.158696066T>G	ENSP00000296786:p.Leu48Arg						p.L48R	NM_145049.3	NP_659486.2	Q8WVY7	UBCP1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		2	469	+	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	48			Ubiquitin-like.		D3DQJ7|Q96DK5	Missense_Mutation	SNP	ENST00000296786.6	37	c.143T>G	CCDS4345.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.577063	0.86645	.	.	ENSG00000164332	ENST00000296786	T	0.45668	0.89	6.02	6.02	0.97574	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.85682	D	0.000000	T	0.71829	0.3386	M	0.90759	3.145	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78084	-0.2342	10	0.72032	D	0.01	-11.6649	16.5494	0.84464	0.0:0.0:0.0:1.0	.	48	Q8WVY7	UBCP1_HUMAN	R	48	ENSP00000296786:L48R	ENSP00000296786:L48R	L	+	2	0	UBLCP1	158628644	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.665000	0.83852	2.299000	0.77371	0.528000	0.53228	CTC		0.318	UBLCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252650.2	NM_145049		25	44	0	0	0	1	0	25	44				
AMY2A	279	broad.mit.edu	37	1	104160147	104160147	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr1:104160147G>T	ENST00000414303.2	+	1	149	c.85G>T	c.(85-87)Gtt>Ttt	p.V29F		NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN	amylase, alpha 2A (pancreatic)	29					carbohydrate catabolic process (GO:0016052)|carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|calcium ion binding (GO:0005509)|chloride ion binding (GO:0031404)			endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Icodextrin(DB00702)|Miglitol(DB00491)	GACATCTATTGTTCATCTGTT	0.428																																						ENST00000414303.2																			0				endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(85-87)Gtt>Ttt		amylase, alpha 2A (pancreatic)	Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085)						160.0	134.0	143.0					1																	104160147		2201	4278	6479	SO:0001583	missense	279				carbohydrate catabolic process|polysaccharide digestion	extracellular space	alpha-amylase activity|calcium ion binding|chloride ion binding	g.chr1:104160147G>T	BC007060	CCDS783.1	1p21.1	2012-10-02	2007-05-03		ENSG00000243480	ENSG00000243480	3.2.1.1		477	protein-coding gene	gene with protein product		104650	"""amylase, alpha 2A; pancreatic"""	AMY2		3260028	Standard	NM_000699		Approved		uc001dut.3	P04746	OTTHUMG00000011023	ENST00000414303.2:c.85G>T	1.37:g.104160147G>T	ENSP00000397582:p.Val29Phe						p.V29F	NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	1	149	+		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)	29					B9EJG1|Q9UBH3	Missense_Mutation	SNP	ENST00000414303.2	37	c.85G>T	CCDS783.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	16.57|16.57	3.160647|3.160647	0.57368|0.57368	.|.	.|.	ENSG00000243480|ENSG00000243480	ENST00000423678|ENST00000414303;ENST00000393932	.|.	.|.	.|.	3.22|3.22	3.22|3.22	0.36961|0.36961	.|Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.82314|0.82314	0.5010|0.5010	M|M	0.92833|0.92833	3.35|3.35	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|0.999;1.0	D|D	0.87339|0.87339	0.2330|0.2330	5|9	.|0.87932	.|D	.|0	.|.	14.5293|14.5293	0.67912|0.67912	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|29;29	.|B9EJG1;P04746	.|.;AMYP_HUMAN	F|F	27|29	.|.	.|ENSP00000377509:V29F	C|V	+|+	2|1	0|0	AMY2A|AMY2A	103961670|103961670	1.000000|1.000000	0.71417|0.71417	0.982000|0.982000	0.44146|0.44146	0.383000|0.383000	0.30230|0.30230	7.105000|7.105000	0.77031|0.77031	1.784000|1.784000	0.52394|0.52394	0.455000|0.455000	0.32223|0.32223	TGT|GTT		0.428	AMY2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030315.1	NM_000699		5	293	1	0	0.00307968	1	0.00307968	5	293				
ZNF99	7652	broad.mit.edu	37	19	22942458	22942458	+	Missense_Mutation	SNP	A	A	T			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr19:22942458A>T	ENST00000596209.1	-	4	343	c.253T>A	c.(253-255)Ttt>Att	p.F85I	ZNF99_ENST00000397104.3_Missense_Mutation_p.F106I	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	85					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TCTGGCCAAAAGTCTTGTGTA	0.289																																						ENST00000397104.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(316-318)Ttt>Att		zinc finger protein 99							45.0	40.0	42.0					19																	22942458		1821	4094	5915	SO:0001583	missense	7652							g.chr19:22942458A>T	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.253T>A	19.37:g.22942458A>T	ENSP00000472969:p.Phe85Ile					ZNF99_ENST00000596209.1_Missense_Mutation_p.F85I	p.F106I							4	315	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.316T>A	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	N	0.040	-1.289906	0.01387	.	.	ENSG00000213973	ENST00000397104	T	0.05855	3.38	0.937	-0.922	0.10468	.	.	.	.	.	T	0.02727	0.0082	N	0.05510	-0.035	0.09310	N	1	B	0.11235	0.004	B	0.14023	0.01	T	0.46748	-0.9169	9	0.20519	T	0.43	.	3.9849	0.09511	0.7219:0.0:0.2781:0.0	.	106	A8MXY4	ZNF99_HUMAN	I	106	ENSP00000380293:F106I	ENSP00000380293:F106I	F	-	1	0	ZNF99	22734298	0.000000	0.05858	0.005000	0.12908	0.005000	0.04900	-3.039000	0.00633	-1.290000	0.02372	-1.304000	0.01323	TTT		0.289	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		6	7	0	0	0	1	0	6	7				
FLG2	388698	broad.mit.edu	37	1	152323407	152323407	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr1:152323407C>A	ENST00000388718.5	-	3	6927	c.6855G>T	c.(6853-6855)caG>caT	p.Q2285H	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2285					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGATCCTGGCTGTCTTTGTT	0.507																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(6853-6855)caG>caT		filaggrin family member 2							283.0	258.0	266.0					1																	152323407		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152323407C>A	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.6855G>T	1.37:g.152323407C>A	ENSP00000373370:p.Gln2285His					FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.Q2285H	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6927	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2285					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.6855G>T	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.617175	0.46736	.	.	ENSG00000143520	ENST00000388718	T	0.03889	3.77	4.47	-2.71	0.05986	.	.	.	.	.	T	0.01940	0.0061	N	0.14661	0.345	0.09310	N	1	D	0.64830	0.994	D	0.67900	0.954	T	0.36040	-0.9764	9	0.27785	T	0.31	0.3931	3.1326	0.06429	0.3026:0.3219:0.0:0.3755	.	2285	Q5D862	FILA2_HUMAN	H	2285	ENSP00000373370:Q2285H	ENSP00000373370:Q2285H	Q	-	3	2	FLG2	150590031	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.952000	0.00677	-0.449000	0.07117	0.297000	0.19635	CAG		0.507	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		64	87	1	0	1.44317e-28	1	1.80396e-28	64	87				
PTN	5764	broad.mit.edu	37	7	136936041	136936041	+	Silent	SNP	G	G	A			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr7:136936041G>A	ENST00000348225.2	-	4	814	c.387C>T	c.(385-387)gcC>gcT	p.A129A	PTN_ENST00000393083.2_Silent_p.A129A	NM_002825.5	NP_002816.1	P21246	PTN_HUMAN	pleiotrophin	129					bone mineralization (GO:0030282)|learning (GO:0007612)|negative regulation of catalytic activity (GO:0043086)|nervous system development (GO:0007399)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)	heparin binding (GO:0008201)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						TCTGGCATTCGGCATTGTGCA	0.507																																						ENST00000348225.2																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						c.(385-387)gcC>gcT		pleiotrophin							305.0	278.0	287.0					7																	136936041		2203	4300	6503	SO:0001819	synonymous_variant	5764				nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway	endoplasmic reticulum|extracellular space	growth factor activity|heparin binding|protein phosphatase inhibitor activity	g.chr7:136936041G>A	M57399	CCDS5844.1	7q33	2014-01-30	2008-07-31		ENSG00000105894	ENSG00000105894		"""Endogenous ligands"""	9630	protein-coding gene	gene with protein product	"""heparin binding growth factor 8"""	162095	"""neurite growth-promoting factor 1"""	NEGF1		1457401, 1768439	Standard	NM_002825		Approved	HBNF, HBGF8	uc003vtq.2	P21246	OTTHUMG00000155709	ENST00000348225.2:c.387C>T	7.37:g.136936041G>A						PTN_ENST00000393083.2_Silent_p.A129A	p.A129A	NM_002825.5	NP_002816.1	P21246	PTN_HUMAN			4	814	-			129					Q5U0B0|Q6ICQ5|Q9UCC6	Silent	SNP	ENST00000348225.2	37	c.387C>T	CCDS5844.1																																																																																				0.507	PTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341339.1	NM_002825		61	104	0	0	0	1	0	61	104				
MCM2	4171	broad.mit.edu	37	3	127327355	127327355	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr3:127327355A>G	ENST00000265056.7	+	7	1476	c.1232A>G	c.(1231-1233)gAg>gGg	p.E411G		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	411					cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)			ovary(3)|skin(2)|stomach(1)	6						CCAGGAGACGAGATAGTAAGT	0.642																																						ENST00000265056.7																			0				ovary(3)|skin(2)|stomach(1)	6						c.(1231-1233)gAg>gGg		minichromosome maintenance complex component 2							36.0	41.0	39.0					3																	127327355		2203	4300	6503	SO:0001583	missense	4171				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding	g.chr3:127327355A>G	X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"""mitotin"""	116945	"""minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)"", ""MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"""	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.1232A>G	3.37:g.127327355A>G	ENSP00000265056:p.Glu411Gly						p.E411G	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN			7	1476	+			411					Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Missense_Mutation	SNP	ENST00000265056.7	37	c.1232A>G	CCDS3043.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.5|24.5	4.538835|4.538835	0.85917|0.85917	.|.	.|.	ENSG00000073111|ENSG00000073111	ENST00000265056;ENST00000539922;ENST00000543142|ENST00000491422	T|.	0.29397|.	1.57|.	5.31|5.31	5.31|5.31	0.75309|0.75309	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87305|0.87305	0.6144|0.6144	H|H	0.95884|0.95884	3.735|3.735	0.80722|0.80722	D|D	1|1	P;P;P|.	0.45715|.	0.763;0.865;0.716|.	B;P;P|.	0.54590|.	0.229;0.756;0.653|.	D|D	0.91344|0.91344	0.5099|0.5099	10|5	0.87932|.	D|.	0|.	-42.2017|-42.2017	14.9147|14.9147	0.70785|0.70785	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	392;281;411|.	F5H1E9;B4DSV5;P49736|.	.;.;MCM2_HUMAN|.	G|G	411;315;392|274	ENSP00000265056:E411G|.	ENSP00000265056:E411G|.	E|R	+|+	2|1	0|2	MCM2|MCM2	128810045|128810045	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.960000|0.960000	0.62799|0.62799	7.125000|7.125000	0.77193|0.77193	2.004000|2.004000	0.58718|0.58718	0.482000|0.482000	0.46254|0.46254	GAG|AGA		0.642	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1			16	20	0	0	0	1	0	16	20				
LCE2A	353139	broad.mit.edu	37	1	152671573	152671573	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr1:152671573G>A	ENST00000368779.1	+	2	247	c.196G>A	c.(196-198)Ggc>Agc	p.G66S		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	66	Cys-rich.				keratinization (GO:0031424)					breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGGGGTGGCGGCTGCTGCCT	0.687																																						ENST00000368779.1																			0				breast(1)|large_intestine(1)|liver(2)|lung(4)	8						c.(196-198)Ggc>Agc		late cornified envelope 2A							35.0	45.0	42.0					1																	152671573		2200	4297	6497	SO:0001583	missense	353139				keratinization			g.chr1:152671573G>A		CCDS1021.1	1q21.3	2008-02-05			ENSG00000187173	ENSG00000187173		"""Late cornified envelopes"""	29469	protein-coding gene	gene with protein product		612609				11698679	Standard	NM_178428		Approved	LEP9	uc001faj.3	Q5TA79	OTTHUMG00000012392	ENST00000368779.1:c.196G>A	1.37:g.152671573G>A	ENSP00000357768:p.Gly66Ser						p.G66S	NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	247	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		66			Cys-rich.		A4QMZ9	Missense_Mutation	SNP	ENST00000368779.1	37	c.196G>A	CCDS1021.1	.	.	.	.	.	.	.	.	.	.	G	1.688	-0.504682	0.04261	.	.	ENSG00000187173	ENST00000368779	T	0.04603	3.59	4.61	0.0903	0.14463	.	.	.	.	.	T	0.01627	0.0052	L	0.58428	1.81	0.09310	N	1	B	0.33379	0.41	B	0.24394	0.053	T	0.40869	-0.9540	9	0.87932	D	0	.	6.001	0.19521	0.1679:0.0:0.5752:0.2569	.	66	Q5TA79	LCE2A_HUMAN	S	66	ENSP00000357768:G66S	ENSP00000357768:G66S	G	+	1	0	LCE2A	150938197	0.017000	0.18338	0.061000	0.19648	0.001000	0.01503	-0.301000	0.08232	-0.215000	0.10063	-2.142000	0.00338	GGC		0.687	LCE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034512.1	NM_178428		5	80	0	0	0	1	0	5	80				
GLT6D1	360203	broad.mit.edu	37	9	138518009	138518009	+	Missense_Mutation	SNP	C	C	T	rs528087693	byFrequency	TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr9:138518009C>T	ENST00000371763.1	-	4	416	c.163G>A	c.(163-165)Gtc>Atc	p.V55I		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	55					carbohydrate metabolic process (GO:0005975)	integral component of membrane (GO:0016021)	transferase activity, transferring hexosyl groups (GO:0016758)			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		TCCCATAGGACAGGAGCGAGC	0.527																																						ENST00000371763.1																			0				endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15						c.(163-165)Gtc>Atc		glycosyltransferase 6 domain containing 1							67.0	70.0	69.0					9																	138518009		1851	4083	5934	SO:0001583	missense	360203				carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups	g.chr9:138518009C>T	AY336054	CCDS43900.1	9q34.3	2013-02-22	2004-09-16	2004-09-17	ENSG00000204007	ENSG00000204007		"""Glycosyltransferase family 6 domain containing"""	23671	protein-coding gene	gene with protein product		613699	"""galactosyltransferase family 6 domain containing 1"""	GLTDC1			Standard	NM_182974		Approved		uc010nbd.1	Q7Z4J2	OTTHUMG00000020911	ENST00000371763.1:c.163G>A	9.37:g.138518009C>T	ENSP00000360829:p.Val55Ile						p.V55I	NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)	4	416	-		Myeloproliferative disorder(178;0.0821)	55						Missense_Mutation	SNP	ENST00000371763.1	37	c.163G>A	CCDS43900.1	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.303201	0.00240	.	.	ENSG00000204007	ENST00000371763	T	0.01126	5.3	4.18	-2.63	0.06133	.	0.705821	0.12759	N	0.441524	T	0.00666	0.0022	N	0.11000	0.08	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.44892	-0.9298	10	0.02654	T	1	-24.096	11.6905	0.51512	0.0:0.4861:0.0:0.5139	.	55	Q7Z4J2	GL6D1_HUMAN	I	55	ENSP00000360829:V55I	ENSP00000360829:V55I	V	-	1	0	GLT6D1	137657830	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.304000	0.08199	-1.049000	0.03234	-1.885000	0.00541	GTC		0.527	GLT6D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055005.2	NM_182974		14	27	0	0	0	1	0	14	27				
FLG2	388698	broad.mit.edu	37	1	152327428	152327428	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr1:152327428G>T	ENST00000388718.5	-	3	2906	c.2834C>A	c.(2833-2835)aCt>aAt	p.T945N	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	945	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAATCCAAAAGTCTGTCCTGA	0.493																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(2833-2835)aCt>aAt		filaggrin family member 2							313.0	310.0	311.0					1																	152327428		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152327428G>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.2834C>A	1.37:g.152327428G>T	ENSP00000373370:p.Thr945Asn					FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.T945N	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2906	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		945			Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.2834C>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	7.241	0.601188	0.13939	.	.	ENSG00000143520	ENST00000388718	T	0.21191	2.02	4.05	-0.695	0.11291	.	.	.	.	.	T	0.05731	0.0150	L	0.47716	1.5	0.09310	N	1	B	0.30326	0.276	B	0.22880	0.042	T	0.32455	-0.9906	9	0.34782	T	0.22	.	8.5019	0.33163	0.0:0.4731:0.3656:0.1613	.	945	Q5D862	FILA2_HUMAN	N	945	ENSP00000373370:T945N	ENSP00000373370:T945N	T	-	2	0	FLG2	150594052	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.780000	0.26760	0.014000	0.14944	-0.176000	0.13171	ACT		0.493	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		5	250	1	0	0.00116845	1	0.001195	5	250				
PCDHB1	29930	broad.mit.edu	37	5	140432268	140432268	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr5:140432268G>T	ENST00000306549.3	+	1	1290	c.1213G>T	c.(1213-1215)Gtc>Ttc	p.V405F		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	405	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTACTCACTGGTCACTGACAG	0.483																																						ENST00000306549.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53						c.(1213-1215)Gtc>Ttc									104.0	102.0	103.0					5																	140432268		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140432268G>T	AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"""Cadherins / Protocadherins : Clustered"""	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.1213G>T	5.37:g.140432268G>T	ENSP00000307234:p.Val405Phe						p.V405F	NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1290	+			405			Cadherin 4.		Q2M257	Missense_Mutation	SNP	ENST00000306549.3	37	c.1213G>T	CCDS4243.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.343506	0.24339	.	.	ENSG00000171815	ENST00000306549	T	0.02812	4.15	6.17	4.39	0.52855	Cadherin (4);Cadherin-like (1);	0.000000	0.42821	D	0.000646	T	0.12092	0.0294	M	0.87381	2.88	0.37346	D	0.910592	P	0.45672	0.864	P	0.51487	0.671	T	0.03202	-1.1061	10	0.66056	D	0.02	.	13.2469	0.60028	0.1314:0.0:0.8686:0.0	.	405	Q9Y5F3	PCDB1_HUMAN	F	405	ENSP00000307234:V405F	ENSP00000307234:V405F	V	+	1	0	PCDHB1	140412452	0.971000	0.33674	0.986000	0.45419	0.029000	0.11900	2.199000	0.42715	1.632000	0.50472	-0.140000	0.14226	GTC		0.483	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	NM_013340		27	47	1	0	1.88708e-17	1	2.1774e-17	27	47				
KIFC1	3833	broad.mit.edu	37	6	33374066	33374066	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr6:33374066C>A	ENST00000428849.2	+	8	2080	c.1630C>A	c.(1630-1632)Cta>Ata	p.L544I		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	544	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|spindle assembly (GO:0051225)	endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|minus-end-directed microtubule motor activity (GO:0008569)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						TGTATTCCAGCTACAGATTTC	0.642																																						ENST00000428849.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						c.(1630-1632)Cta>Ata		kinesin family member C1							96.0	109.0	104.0					6																	33374066		2203	4300	6503	SO:0001583	missense	3833				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity	g.chr6:33374066C>A	D14678	CCDS34430.1	6p21.32	2014-05-15	2003-01-09	2003-01-10	ENSG00000237649	ENSG00000237649		"""Kinesins"""	6389	protein-coding gene	gene with protein product		603763	"""kinesin-like 2"""	KNSL2		8276466	Standard	NM_002263		Approved	HSET	uc003oef.4	Q9BW19	OTTHUMG00000031209	ENST00000428849.2:c.1630C>A	6.37:g.33374066C>A	ENSP00000393963:p.Leu544Ile						p.L544I	NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN			8	2080	+			544			Kinesin-motor.		O60887|Q14834|Q4KMP0|Q5SU09|Q6GMS7|Q6P4A5|Q9UQP7	Missense_Mutation	SNP	ENST00000428849.2	37	c.1630C>A	CCDS34430.1	.	.	.	.	.	.	.	.	.	.	c	20.4	3.984003	0.74474	.	.	ENSG00000237649	ENST00000428849	T	0.42131	0.98	5.11	4.24	0.50183	Kinesin, motor domain (5);	0.000000	0.64402	D	0.000002	T	0.28928	0.0718	N	0.11560	0.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.36890	-0.9729	10	0.72032	D	0.01	-0.106	7.6193	0.28177	0.0:0.8136:0.0:0.1864	.	536;544	B4E063;Q9BW19	.;KIFC1_HUMAN	I	544	ENSP00000393963:L544I	ENSP00000393963:L544I	L	+	1	2	KIFC1	33482044	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	3.125000	0.50469	1.363000	0.46019	0.558000	0.71614	CTA		0.642	KIFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076417.1	NM_002263		57	85	1	0	4.96213e-28	1	6.03503e-28	57	85				
CYSLTR2	57105	broad.mit.edu	37	13	49281496	49281496	+	Silent	SNP	C	C	T	rs141963167	byFrequency	TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr13:49281496C>T	ENST00000282018.3	+	1	546	c.543C>T	c.(541-543)aaC>aaT	p.N181N		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	181					immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell death (GO:0010942)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteinyl leukotriene receptor activity (GO:0001631)|leukotriene receptor activity (GO:0004974)			endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	CTGAGCAGAACGGCAGTGTCA	0.483													c|||	7	0.00139776	0.0053	0.0	5008	,	,		20753	0.0		0.0	False		,,,				2504	0.0					ENST00000282018.3																			0				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20						c.(541-543)aaC>aaT		cysteinyl leukotriene receptor 2	Nedocromil(DB00716)	C		30,4376	35.2+/-66.4	0,30,2173	126.0	121.0	122.0		543	-5.7	0.0	13	dbSNP_134	122	0,8600		0,0,4300	no	coding-synonymous	CYSLTR2	NM_020377.2		0,30,6473	TT,TC,CC		0.0,0.6809,0.2307		181/347	49281496	30,12976	2203	4300	6503	SO:0001819	synonymous_variant	57105				immune response	integral to membrane|plasma membrane		g.chr13:49281496C>T	AB038269	CCDS9412.1	13q14.2	2012-08-10			ENSG00000152207	ENSG00000152207		"""GPCR / Class A : Leukotriene receptors"""	18274	protein-coding gene	gene with protein product		605666				10913337, 1085123	Standard	NM_020377		Approved	CysLT(2), CYSLT2R	uc001vck.2	Q9NS75	OTTHUMG00000016906	ENST00000282018.3:c.543C>T	13.37:g.49281496C>T							p.N181N	NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN		GBM - Glioblastoma multiforme(99;1.19e-09)	1	546	+		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)	181					Q9HCQ2	Silent	SNP	ENST00000282018.3	37	c.543C>T	CCDS9412.1																																																																																				0.483	CYSLTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044894.1			32	16	0	0	0	1	0	32	16				
ARHGAP36	158763	broad.mit.edu	37	X	130217750	130217750	+	Missense_Mutation	SNP	T	T	A			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chrX:130217750T>A	ENST00000276211.5	+	4	707	c.362T>A	c.(361-363)cTg>cAg	p.L121Q	ARHGAP36_ENST00000370921.1_5'UTR|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.L109Q	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	121					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GAAGAGGTCCTGGTGAACGAG	0.552																																						ENST00000276211.5																			0				breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						c.(361-363)cTg>cAg		Rho GTPase activating protein 36							132.0	126.0	128.0					X																	130217750		2203	4300	6503	SO:0001583	missense	158763				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chrX:130217750T>A		CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.362T>A	X.37:g.130217750T>A	ENSP00000276211:p.Leu121Gln					ARHGAP36_ENST00000370921.1_5'UTR|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.L109Q	p.L121Q	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN			4	707	+			121					B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	ENST00000276211.5	37	c.362T>A	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	T	13.11	2.138823	0.37728	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000423277;ENST00000412432	T;T;T	0.14144	2.53;2.54;2.57	4.3	4.3	0.51218	Rho GTPase-activating protein domain (1);	0.240961	0.22239	N	0.062704	T	0.20292	0.0488	N	0.19112	0.55	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.995	D;D;D	0.87578	0.994;0.998;0.986	T	0.02385	-1.1167	10	0.72032	D	0.01	.	8.818	0.35007	0.0:0.0:0.0:1.0	.	90;109;121	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	Q	121;109;73;90	ENSP00000276211:L121Q;ENSP00000359960:L109Q;ENSP00000408515:L90Q	ENSP00000276211:L121Q	L	+	2	0	ARHGAP36	130045431	1.000000	0.71417	0.913000	0.36048	0.023000	0.10783	3.028000	0.49705	1.903000	0.55091	0.486000	0.48141	CTG		0.552	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967		54	19	0	0	0	1	0	54	19				
TJP2	9414	broad.mit.edu	37	9	71851082	71851082	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr9:71851082G>A	ENST00000377245.4	+	13	2127	c.1919G>A	c.(1918-1920)gGc>gAc	p.G640D	TJP2_ENST00000539225.1_Missense_Mutation_p.G671D|TJP2_ENST00000535702.1_Missense_Mutation_p.G644D|TJP2_ENST00000453658.2_Missense_Mutation_p.G617D|TJP2_ENST00000348208.4_Missense_Mutation_p.G640D|TJP2_ENST00000265384.7_Missense_Mutation_p.G640D	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	640	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						CTGTATGACGGCAAGCTGGGC	0.502																																						ENST00000377245.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						c.(1918-1920)gGc>gAc		tight junction protein 2							105.0	96.0	99.0					9																	71851082		2203	4300	6503	SO:0001583	missense	9414				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding	g.chr9:71851082G>A	L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"""Friedreich ataxia region gene X104 (tight junction protein ZO-2)"", ""zona occludens 2"""	607709	"""deafness, autosomal dominant 51"""	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.1919G>A	9.37:g.71851082G>A	ENSP00000366453:p.Gly640Asp					TJP2_ENST00000453658.2_Missense_Mutation_p.G617D|TJP2_ENST00000348208.4_Missense_Mutation_p.G640D|TJP2_ENST00000265384.7_Missense_Mutation_p.G640D|TJP2_ENST00000535702.1_Missense_Mutation_p.G644D|TJP2_ENST00000539225.1_Missense_Mutation_p.G671D	p.G640D	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN			13	2127	+			640			SH3.		A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP	ENST00000377245.4	37	c.1919G>A	CCDS6627.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.035745	0.93630	.	.	ENSG00000119139	ENST00000453658;ENST00000377245;ENST00000348208;ENST00000265384;ENST00000535702;ENST00000539225	T;T;T;T;T;T	0.16897	2.39;2.31;2.36;2.38;2.37;2.35	5.43	5.43	0.79202	Src homology-3 domain (3);Variant SH3 (1);	0.048996	0.85682	D	0.000000	T	0.44808	0.1311	M	0.71581	2.175	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.998;1.0;1.0;1.0	T	0.35500	-0.9786	10	0.87932	D	0	.	19.589	0.95499	0.0:0.0:1.0:0.0	.	671;644;640;640;640	F5H301;F5H886;Q9UDY2-2;Q9UDY2;Q9UDY2-5	.;.;.;ZO2_HUMAN;.	D	617;640;640;640;644;671	ENSP00000392178:G617D;ENSP00000366453:G640D;ENSP00000345893:G640D;ENSP00000265384:G640D;ENSP00000442090:G644D;ENSP00000438262:G671D	ENSP00000265384:G640D	G	+	2	0	TJP2	71040902	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	9.678000	0.98647	2.709000	0.92574	0.491000	0.48974	GGC		0.502	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2	NM_201629		3	44	0	0	0	1	0	3	44				
CIR1	9541	broad.mit.edu	37	2	175213457	175213457	+	Missense_Mutation	SNP	T	T	G			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr2:175213457T>G	ENST00000342016.3	-	10	1213	c.1121A>C	c.(1120-1122)aAg>aCg	p.K374T	CIR1_ENST00000362053.5_3'UTR	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN	corepressor interacting with RBPJ, 1	374	Arg/Ser-rich (RS domain).				mRNA processing (GO:0006397)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						GCTCCCCTCCTTTCTTTCAGA	0.527																																						ENST00000342016.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						c.(1120-1122)aAg>aCg		corepressor interacting with RBPJ, 1							100.0	103.0	102.0					2																	175213457		2203	4300	6503	SO:0001583	missense	9541				mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr2:175213457T>G	AF098297	CCDS2256.1	2q31.1	2009-07-14			ENSG00000138433	ENSG00000138433			24217	protein-coding gene	gene with protein product	"""recepin"", ""CBF1 interacting corepressor"""	605228				15652350, 11222720, 9874765	Standard	NM_004882		Approved	CIR	uc002uim.3	Q86X95	OTTHUMG00000132338	ENST00000342016.3:c.1121A>C	2.37:g.175213457T>G	ENSP00000339723:p.Lys374Thr					CIR1_ENST00000362053.5_3'UTR	p.K374T	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN			10	1213	-			374			Arg/Ser-rich (RS domain).		A6NFI6|A8K8M4|O95367|Q12804|Q4G1B9|Q6PJI4|Q8IWI2	Missense_Mutation	SNP	ENST00000342016.3	37	c.1121A>C	CCDS2256.1	.	.	.	.	.	.	.	.	.	.	T	5.798	0.331529	0.10956	.	.	ENSG00000138433	ENST00000342016	.	.	.	6.16	-0.415	0.12355	.	1.513000	0.03180	N	0.171975	T	0.33352	0.0860	L	0.38175	1.15	0.09310	N	1	B;B	0.20887	0.049;0.012	B;B	0.19666	0.026;0.01	T	0.18241	-1.0343	9	0.39692	T	0.17	.	5.7743	0.18271	0.0:0.2729:0.1288:0.5984	.	374;374	A0PJI7;Q86X95	.;CIR1_HUMAN	T	374	.	ENSP00000339723:K374T	K	-	2	0	CIR1	174921703	0.003000	0.15002	0.001000	0.08648	0.044000	0.14063	0.467000	0.22035	-0.269000	0.09298	-0.256000	0.11100	AAG		0.527	CIR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255460.1	NM_004882		23	11	0	0	0	1	0	23	11				
TRIM9	114088	broad.mit.edu	37	14	51560842	51560842	+	Silent	SNP	T	T	A			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr14:51560842T>A	ENST00000298355.3	-	1	1937	c.816A>T	c.(814-816)ctA>ctT	p.L272L	TRIM9_ENST00000338969.5_Silent_p.L272L|TRIM9_ENST00000360392.4_Silent_p.L272L|RP11-1140I5.1_ENST00000554475.1_RNA	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	272					negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of SNARE complex assembly (GO:0035544)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|synaptic vesicle (GO:0008021)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					TCACCTTATGTAGTTTCCACA	0.567																																						ENST00000298355.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(814-816)ctA>ctT		tripartite motif containing 9							153.0	131.0	139.0					14																	51560842		2203	4300	6503	SO:0001819	synonymous_variant	114088				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:51560842T>A	AF220036	CCDS9703.1, CCDS45105.1	14q21.3	2013-02-11	2011-01-25		ENSG00000100505	ENSG00000100505		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16288	protein-coding gene	gene with protein product		606555	"""tripartite motif-containing 9"""			11331580, 11524423	Standard	NM_015163		Approved	SPRING, RNF91	uc001wyx.4	Q9C026	OTTHUMG00000140291	ENST00000298355.3:c.816A>T	14.37:g.51560842T>A						TRIM9_ENST00000338969.5_Silent_p.L272L|TRIM9_ENST00000360392.4_Silent_p.L272L	p.L272L	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN			1	1937	-	all_epithelial(31;0.00418)|Breast(41;0.148)		272					D3DSB7|D3DSB8|Q92557|Q96D24|Q96NI4|Q9C025|Q9C027	Silent	SNP	ENST00000298355.3	37	c.816A>T	CCDS9703.1																																																																																				0.567	TRIM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276874.1	NM_015163		20	31	0	0	0	1	0	20	31				
GJB4	127534	broad.mit.edu	37	1	35227197	35227197	+	Silent	SNP	G	G	A	rs146404415		TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr1:35227197G>A	ENST00000339480.1	+	2	712	c.342G>A	c.(340-342)ccG>ccA	p.P114P	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	114					cell communication (GO:0007154)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)		p.P114P(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				CCAATGCCCCGTCCCTGTACG	0.617													g|||	1	0.000199681	0.0	0.0	5008	,	,		21908	0.001		0.0	False		,,,				2504	0.0					ENST00000339480.1																			1	Substitution - coding silent(1)	p.P114P(1)	ovary(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16						c.(340-342)ccG>ccA		gap junction protein, beta 4, 30.3kDa		A		0,4406		0,0,2203	96.0	70.0	79.0		342	-7.1	0.0	1	dbSNP_134	79	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	GJB4	NM_153212.2		0,4,6499	AA,AG,GG		0.0465,0.0,0.0308		114/267	35227197	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	127534				cell communication	connexon complex|integral to membrane	gap junction channel activity	g.chr1:35227197G>A		CCDS383.1	1p35-p34	2008-05-14	2007-11-06		ENSG00000189433	ENSG00000189433		"""Ion channels / Gap junction proteins (connexins)"""	4286	protein-coding gene	gene with protein product	"""connexin 30.3"""	605425	"""gap junction protein, beta 4 (connexin 30.3)"", ""gap junction protein, beta 4"""				Standard	NM_153212		Approved	CX30.3	uc001bxv.1	Q9NTQ9	OTTHUMG00000004052	ENST00000339480.1:c.342G>A	1.37:g.35227197G>A						RP1-34M23.5_ENST00000542839.1_RNA	p.P114P	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN			2	712	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)	114					B3KQ82	Silent	SNP	ENST00000339480.1	37	c.342G>A	CCDS383.1																																																																																				0.617	GJB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011560.1	NM_153212		10	30	0	0	0	1	0	10	30				
EFCAB5	374786	broad.mit.edu	37	17	28434998	28434998	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr17:28434998T>C	ENST00000394835.3	+	23	4660	c.4468T>C	c.(4468-4470)Tat>Cat	p.Y1490H	EFCAB5_ENST00000320856.5_Missense_Mutation_p.Y1366H|EFCAB5_ENST00000394832.2_Missense_Mutation_p.Y962H|RP11-1148O4.2_ENST00000582938.1_RNA	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1490							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GACTGACAATTATATGTATGC	0.373																																						ENST00000394835.3																			0				breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(4468-4470)Tat>Cat		EF-hand calcium binding domain 5							159.0	147.0	151.0					17																	28434998		1869	4110	5979	SO:0001583	missense	374786						calcium ion binding	g.chr17:28434998T>C	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.4468T>C	17.37:g.28434998T>C	ENSP00000378312:p.Tyr1490His					EFCAB5_ENST00000394832.2_Missense_Mutation_p.Y962H|RP11-1148O4.2_ENST00000582938.1_RNA|EFCAB5_ENST00000320856.5_Missense_Mutation_p.Y1366H	p.Y1490H	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN			23	4660	+			1490					B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	ENST00000394835.3	37	c.4468T>C	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	T	9.989	1.230197	0.22542	.	.	ENSG00000176927	ENST00000394835;ENST00000320856;ENST00000394832;ENST00000419434	T;T;T;T	0.18338	2.93;2.94;2.22;2.95	3.62	-1.43	0.08884	.	2.405150	0.01464	N	0.015983	T	0.13670	0.0331	L	0.36672	1.1	0.09310	N	1	B;B;B	0.11235	0.004;0.004;0.004	B;B;B	0.14023	0.01;0.01;0.01	T	0.28170	-1.0052	10	0.52906	T	0.07	6.5629	2.463	0.04546	0.3426:0.216:0.0:0.4414	.	962;1366;1490	B5MEA3;E7EVS9;A4FU69	.;.;EFCB5_HUMAN	H	1490;1366;962;1172	ENSP00000378312:Y1490H;ENSP00000322003:Y1366H;ENSP00000378309:Y962H;ENSP00000417009:Y1172H	ENSP00000322003:Y1366H	Y	+	1	0	EFCAB5	25459124	0.000000	0.05858	0.000000	0.03702	0.147000	0.21601	-0.090000	0.11163	-0.341000	0.08376	0.533000	0.62120	TAT		0.373	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529		34	51	0	0	0	1	0	34	51				
ANKRD28	23243	broad.mit.edu	37	3	15736275	15736275	+	Nonsense_Mutation	SNP	T	T	A			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr3:15736275T>A	ENST00000399451.2	-	17	2009	c.1642A>T	c.(1642-1644)Aga>Tga	p.R548*	ANKRD28_ENST00000383777.1_Nonsense_Mutation_p.R581*|MIR3134_ENST00000579433.1_RNA|ANKRD28_ENST00000497037.1_5'UTR	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	548						nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						ATTGTTGCTCTATTATCTGAA	0.373																																						ENST00000399451.2																			0				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						c.(1642-1644)Aga>Tga		ankyrin repeat domain 28							160.0	148.0	152.0					3																	15736275		1878	4116	5994	SO:0001587	stop_gained	23243					nucleoplasm	protein binding	g.chr3:15736275T>A	AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	29024	protein-coding gene	gene with protein product	"""phosphatase interactor targeting K protein"", ""protein phosphatase 6 ankyrin repeat subunit A"", ""protein phosphatase 1, regulatory subunit 65"""	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.1642A>T	3.37:g.15736275T>A	ENSP00000382379:p.Arg548*					ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Nonsense_Mutation_p.R581*	p.R548*	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN			17	2009	-			548					B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Nonsense_Mutation	SNP	ENST00000399451.2	37	c.1642A>T	CCDS46769.1	.	.	.	.	.	.	.	.	.	.	T	39	7.416826	0.98272	.	.	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	.	.	.	5.58	4.4	0.53042	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	12.8974	0.58108	0.0:0.0:0.1355:0.8645	.	.	.	.	X	548;581;548	.	ENSP00000373287:R581X	R	-	1	2	ANKRD28	15711279	1.000000	0.71417	0.972000	0.41901	0.997000	0.91878	2.562000	0.45914	0.916000	0.36871	0.533000	0.62120	AGA		0.373	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339758.1	NM_015199		22	30	0	0	0	1	0	22	30				
ZNF737	100129842	broad.mit.edu	37	19	20728085	20728085	+	Silent	SNP	G	G	A			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr19:20728085G>A	ENST00000427401.4	-	4	1018	c.924C>T	c.(922-924)agC>agT	p.S308S		NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	308					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)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						GTTTCTCTCCGCTATGAATTA	0.408																																						ENST00000427401.4																			0				breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						c.(922-924)agC>agT		zinc finger protein 737							42.0	42.0	42.0					19																	20728085		692	1591	2283	SO:0001819	synonymous_variant	100129842				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:20728085G>A	BC015765	CCDS54238.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	32468	protein-coding gene	gene with protein product		603984					Standard	NM_001159293		Approved	ZNF102	uc002npa.3	O75373		ENST00000427401.4:c.924C>T	19.37:g.20728085G>A							p.S308S	NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN			4	1018	-			308					C9JHM3	Silent	SNP	ENST00000427401.4	37	c.924C>T	CCDS54238.1																																																																																				0.408	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447844.2	NM_145289		15	28	0	0	0	1	0	15	28				
HEATR5B	54497	broad.mit.edu	37	2	37284597	37284597	+	Silent	SNP	G	G	A			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr2:37284597G>A	ENST00000233099.5	-	15	2181	c.2086C>T	c.(2086-2088)Ctg>Ttg	p.L696L	HEATR5B_ENST00000354531.2_Silent_p.L696L	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	696						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TCCGCTACCAGTTCTCTAAGA	0.368																																						ENST00000233099.5																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77						c.(2086-2088)Ctg>Ttg		HEAT repeat containing 5B							110.0	110.0	110.0					2																	37284597		2203	4300	6503	SO:0001819	synonymous_variant	54497						binding	g.chr2:37284597G>A	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.2086C>T	2.37:g.37284597G>A						HEATR5B_ENST00000354531.2_Silent_p.L696L	p.L696L	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN			15	2181	-		all_hematologic(82;0.21)	696					B5MDU8|Q7Z3B2|Q9NVL7	Silent	SNP	ENST00000233099.5	37	c.2086C>T	CCDS33181.1																																																																																				0.368	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		15	27	0	0	0	1	0	15	27				
RMI1	80010	broad.mit.edu	37	9	86616312	86616312	+	Silent	SNP	G	G	T			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr9:86616312G>T	ENST00000325875.3	+	3	743	c.411G>T	c.(409-411)ctG>ctT	p.L137L		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	137					DNA replication (GO:0006260)|glucose homeostasis (GO:0042593)|multicellular organism growth (GO:0035264)|reduction of food intake in response to dietary excess (GO:0002023)|response to glucose (GO:0009749)	nucleus (GO:0005634)				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						TGTTGATGCTGCAGCTAACTG	0.388																																						ENST00000325875.3																			0				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(409-411)ctG>ctT		RecQ mediated genome instability 1							83.0	71.0	75.0					9																	86616312		2203	4300	6503	SO:0001819	synonymous_variant	80010				DNA replication	nucleus		g.chr9:86616312G>T	AK022950	CCDS6669.1	9q22.1	2013-06-10	2013-06-10	2006-06-12	ENSG00000178966	ENSG00000178966			25764	protein-coding gene	gene with protein product	"""BLM-Associated Polypeptide, 75 kDa"""	610404	"""chromosome 9 open reading frame 76"", ""RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae)"""	C9orf76		15775963, 20826341	Standard	NM_024945		Approved	FLJ12888, BLAP75	uc004anq.4	Q9H9A7	OTTHUMG00000020113	ENST00000325875.3:c.411G>T	9.37:g.86616312G>T							p.L137L	NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN			3	743	+			137					Q05BX1|Q05CW3|Q5SQG8|Q5SQG9|Q6P1Q4|Q6PI89|Q7Z6L6	Silent	SNP	ENST00000325875.3	37	c.411G>T	CCDS6669.1																																																																																				0.388	RMI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052870.1	NM_024945		24	30	1	0	2.89027e-11	1	3.25155e-11	24	30				
SPTLC1	10558	broad.mit.edu	37	9	94843196	94843196	+	Missense_Mutation	SNP	C	C	T	rs143232538	byFrequency	TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr9:94843196C>T	ENST00000262554.2	-	4	315	c.310G>A	c.(310-312)Gcc>Acc	p.A104T	SPTLC1_ENST00000337841.4_Missense_Mutation_p.A104T|SPTLC1_ENST00000482632.1_5'UTR	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	104					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)|SPOTS complex (GO:0035339)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)	TTAAATGAGGCGAAGTTTATA	0.383																																						ENST00000262554.2																			0				breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						c.(310-312)Gcc>Acc		serine palmitoyltransferase, long chain base subunit 1	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	C	THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	136.0	113.0	121.0		310,310	5.0	1.0	9	dbSNP_134	121	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SPTLC1	NM_006415.2,NM_178324.1	58,58	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	104/474,104/144	94843196	2,13004	2203	4300	6503	SO:0001583	missense	10558					integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr9:94843196C>T	Y08685	CCDS6692.1, CCDS6693.1	9q22.31	2014-09-17	2003-12-02		ENSG00000090054	ENSG00000090054	2.3.1.50		11277	protein-coding gene	gene with protein product		605712	"""hereditary sensory neuropathy, type 1"""	HSN1		9363775	Standard	NM_006415		Approved	LCB1, SPTI, HSAN1, hLCB1	uc004arl.1	O15269	OTTHUMG00000021047	ENST00000262554.2:c.310G>A	9.37:g.94843196C>T	ENSP00000262554:p.Ala104Thr					SPTLC1_ENST00000337841.4_Missense_Mutation_p.A104T|SPTLC1_ENST00000482632.1_5'UTR	p.A104T	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN			4	315	-			104					A8K681|Q5VWB4|Q96IX6	Missense_Mutation	SNP	ENST00000262554.2	37	c.310G>A	CCDS6692.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.722997	0.89298	2.27E-4	1.16E-4	ENSG00000090054	ENST00000262554;ENST00000337841	D;D	0.96011	-2.82;-3.88	5.0	5.0	0.66597	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.97851	0.9294	M	0.85462	2.755	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;0.998	D;D;D;D	0.74348	0.931;0.969;0.983;0.949	D	0.98423	1.0578	10	0.87932	D	0	-14.1005	18.4449	0.90680	0.0:1.0:0.0:0.0	.	104;104;99;104	Q6NUL7;Q96IX6;Q59EQ4;O15269	.;.;.;SPTC1_HUMAN	T	104	ENSP00000262554:A104T;ENSP00000337635:A104T	ENSP00000262554:A104T	A	-	1	0	SPTLC1	93883017	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	5.648000	0.67930	2.759000	0.94783	0.557000	0.71058	GCC		0.383	SPTLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055553.1	NM_006415		14	32	0	0	0	1	0	14	32				
CTAGE5	4253	broad.mit.edu	37	14	39769118	39769118	+	Silent	SNP	A	A	G			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr14:39769118A>G	ENST00000280083.3	+	9	1037	c.723A>G	c.(721-723)aaA>aaG	p.K241K	CTAGE5_ENST00000341749.3_Silent_p.K229K|CTAGE5_ENST00000341502.5_Silent_p.K241K|CTAGE5_ENST00000396165.4_Silent_p.K212K|CTAGE5_ENST00000556148.1_Silent_p.K166K|CTAGE5_ENST00000348007.3_Silent_p.K241K|RP11-407N17.3_ENST00000603904.1_Silent_p.K212K|RP11-407N17.3_ENST00000553728.1_Silent_p.K776K|CTAGE5_ENST00000553352.1_Silent_p.K212K|CTAGE5_ENST00000557038.1_Silent_p.K161K|CTAGE5_ENST00000396158.2_Silent_p.K246K			O15320	CTGE5_HUMAN	CTAGE family, member 5	241					positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		AACTTAATAAACAGAAAGTAA	0.323																																						ENST00000553728.1																			0											c.(2326-2328)aaA>aaG									127.0	132.0	130.0					14																	39769118		2203	4297	6500	SO:0001819	synonymous_variant	0							g.chr14:39769118A>G	U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"""meningioma expressed antigen 6 (coiled-coil proline-rich)"""	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.723A>G	14.37:g.39769118A>G						CTAGE5_ENST00000557038.1_Silent_p.K161K|CTAGE5_ENST00000396165.4_Silent_p.K212K|CTAGE5_ENST00000396158.2_Silent_p.K246K|CTAGE5_ENST00000341749.3_Silent_p.K229K|CTAGE5_ENST00000348007.3_Silent_p.K241K|CTAGE5_ENST00000556148.1_Silent_p.K166K|CTAGE5_ENST00000280083.3_Silent_p.K241K|CTAGE5_ENST00000553352.1_Silent_p.K212K|RP11-407N17.3_ENST00000603904.1_Silent_p.K212K|CTAGE5_ENST00000341502.5_Silent_p.K241K	p.K776K							13	2541	+								B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Silent	SNP	ENST00000280083.3	37	c.2328A>G	CCDS9674.1																																																																																				0.323	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276771.2	NM_005930		28	32	0	0	0	1	0	28	32				
DVL3	1857	broad.mit.edu	37	3	183888412	183888412	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr3:183888412G>A	ENST00000313143.3	+	15	2268	c.2020G>A	c.(2020-2022)Gcg>Acg	p.A674T	EIF2B5_ENST00000444495.1_Intron|DVL3_ENST00000431765.1_Missense_Mutation_p.A657T	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	674					canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|intracellular signal transduction (GO:0035556)|non-canonical Wnt signaling pathway (GO:0035567)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|outflow tract septum morphogenesis (GO:0003148)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cell cortex (GO:0005938)	beta-catenin binding (GO:0008013)|frizzled binding (GO:0005109)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			CCCGCCGCCCGCGGCCATGGG	0.721																																						ENST00000313143.3																			0				breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35						c.(2020-2022)Gcg>Acg		dishevelled segment polarity protein 3							13.0	17.0	16.0					3																	183888412		2192	4277	6469	SO:0001583	missense	1857				canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity	g.chr3:183888412G>A	D86963	CCDS3253.1	3q27	2013-05-22	2013-05-22		ENSG00000161202	ENSG00000161202		"""Dishevelled homologs"""	3087	protein-coding gene	gene with protein product		601368	"""dishevelled 3 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 3 (Drosophila)"""			8817329	Standard	NM_004423		Approved	KIAA0208	uc003fms.3	Q92997	OTTHUMG00000156841	ENST00000313143.3:c.2020G>A	3.37:g.183888412G>A	ENSP00000316054:p.Ala674Thr					DVL3_ENST00000431765.1_Missense_Mutation_p.A657T|EIF2B5_ENST00000444495.1_Intron	p.A674T	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)		15	2268	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		674					B4E3E5|D3DNT0|O14642|Q13531|Q8N5E9|Q92607	Missense_Mutation	SNP	ENST00000313143.3	37	c.2020G>A	CCDS3253.1	.	.	.	.	.	.	.	.	.	.	G	7.604	0.673431	0.14776	.	.	ENSG00000161202	ENST00000313143;ENST00000415612;ENST00000431765	T;T	0.03663	3.85;3.85	3.91	2.09	0.27110	Dishevelled C-terminal (1);	0.330762	0.30940	N	0.008576	T	0.01287	0.0042	N	0.02247	-0.625	0.20975	N	0.999819	B;B;B;B	0.21905	0.001;0.032;0.062;0.001	B;B;B;B	0.20577	0.001;0.03;0.003;0.001	T	0.48007	-0.9072	10	0.10377	T	0.69	-12.5391	4.6044	0.12371	0.1942:0.0:0.5168:0.289	.	657;506;674;674	B4E3E5;Q9UG07;F5GWR8;Q92997	.;.;.;DVL3_HUMAN	T	674;674;657	ENSP00000316054:A674T;ENSP00000405885:A657T	ENSP00000316054:A674T	A	+	1	0	DVL3	185371106	0.007000	0.16637	0.324000	0.25361	0.957000	0.61999	0.787000	0.26858	0.256000	0.21614	-0.254000	0.11334	GCG		0.721	DVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346184.1	NM_004423		7	10	0	0	0	1	0	7	10				
C2orf16	84226	broad.mit.edu	37	2	27804461	27804461	+	Silent	SNP	C	C	A			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr2:27804461C>A	ENST00000408964.2	+	1	5073	c.5022C>A	c.(5020-5022)tcC>tcA	p.S1674S	ZNF512_ENST00000416005.2_5'Flank|ZNF512_ENST00000413371.2_5'Flank|ZNF512_ENST00000379717.1_5'Flank|ZNF512_ENST00000355467.4_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000556601.1_5'Flank|AC074091.1_ENST00000408604.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1674	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GCAGTCCCTCCCAGAGGAGCC	0.572																																						ENST00000408964.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47						c.(5020-5022)tcC>tcA		chromosome 2 open reading frame 16							146.0	149.0	148.0					2																	27804461		1904	4124	6028	SO:0001819	synonymous_variant	84226							g.chr2:27804461C>A	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.5022C>A	2.37:g.27804461C>A							p.S1674S	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN			1	5073	+	Acute lymphoblastic leukemia(172;0.155)		1674			27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.		B9EIQ4|Q53S01|Q8ND64|Q9H088	Silent	SNP	ENST00000408964.2	37	c.5022C>A	CCDS42666.1																																																																																				0.572	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		64	92	1	0	7.05995e-25	1	8.36047e-25	64	92				
TBC1D32	221322	broad.mit.edu	37	6	121642938	121642938	+	Missense_Mutation	SNP	T	T	A			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr6:121642938T>A	ENST00000398212.2	-	2	207	c.158A>T	c.(157-159)tAt>tTt	p.Y53F	TBC1D32_ENST00000275159.6_Missense_Mutation_p.Y53F	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	53					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										CACAAATTCATAGCTGAAACA	0.318																																						ENST00000275159.6																			0											c.(157-159)tAt>tTt		TBC1 domain family, member 32							99.0	88.0	91.0					6																	121642938		1816	4086	5902	SO:0001583	missense	221322							g.chr6:121642938T>A	AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"""broad-minded homolog"""	615867	"""chromosome 6 open reading frame 171"", ""chromosome 6 open reading frame 170"""	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.158A>T	6.37:g.121642938T>A	ENSP00000381270:p.Tyr53Phe					TBC1D32_ENST00000398212.2_Missense_Mutation_p.Y53F	p.Y53F							2	157	-								Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	ENST00000398212.2	37	c.158A>T	CCDS43501.1	.	.	.	.	.	.	.	.	.	.	T	26.7	4.766117	0.90020	.	.	ENSG00000146350	ENST00000275159;ENST00000398212;ENST00000422369	T;T;T	0.25085	1.82;1.82;1.82	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.40448	0.1117	M	0.66939	2.045	0.47994	D	0.999566	D	0.71674	0.998	D	0.69142	0.962	T	0.39099	-0.9630	10	0.87932	D	0	-0.0318	15.6198	0.76796	0.0:0.0:0.0:1.0	.	53	Q96NH3	BROMI_HUMAN	F	53	ENSP00000275159:Y53F;ENSP00000381270:Y53F;ENSP00000397993:Y53F	ENSP00000275159:Y53F	Y	-	2	0	C6orf170	121684637	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.029000	0.76477	2.108000	0.64289	0.533000	0.62120	TAT		0.318	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730		29	44	0	0	0	1	0	29	44				
CPSF3L	54973	broad.mit.edu	37	1	1248291	1248291	+	Silent	SNP	G	G	A	rs138107513	byFrequency	TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr1:1248291G>A	ENST00000435064.1	-	12	1252	c.1170C>T	c.(1168-1170)agC>agT	p.S390S	CPSF3L_ENST00000421495.2_Silent_p.S132S|CPSF3L_ENST00000545578.1_Silent_p.S361S|CPSF3L_ENST00000462432.1_5'UTR|CPSF3L_ENST00000419704.1_Silent_p.S289S|CPSF3L_ENST00000411962.1_Silent_p.S292S|CPSF3L_ENST00000450926.2_Silent_p.S368S|CPSF3L_ENST00000540437.1_Silent_p.S396S	NM_001256460.1|NM_017871.5	NP_001243389.1|NP_060341.2	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	390					snRNA processing (GO:0016180)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|integrator complex (GO:0032039)	hydrolase activity (GO:0016787)			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		CCGCGTGTGCGCTGAATGACA	0.637													G|||	5	0.000998403	0.0	0.0029	5008	,	,		17225	0.0		0.001	False		,,,				2504	0.002					ENST00000540437.1																			0				endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13						c.(1186-1188)agC>agT		cleavage and polyadenylation specific factor 3-like		G		0,4402		0,0,2201	51.0	49.0	50.0		1170	-7.3	0.7	1	dbSNP_134	50	13,8579	9.8+/-36.6	0,13,4283	no	coding-synonymous	CPSF3L	NM_017871.4		0,13,6484	AA,AG,GG		0.1513,0.0,0.1		390/601	1248291	13,12981	2201	4296	6497	SO:0001819	synonymous_variant	54973					Golgi apparatus|nucleus	hydrolase activity	g.chr1:1248291G>A	AL136813	CCDS21.1, CCDS57959.1, CCDS57960.1, CCDS57961.1, CCDS72678.1	1p36.33	2008-02-05			ENSG00000127054	ENSG00000127054			26052	protein-coding gene	gene with protein product	"""integrator complex subunit 11"""	611354				15684398, 16239144	Standard	NM_001256456		Approved	FLJ20542, RC-68, CPSF73L, INT11, INTS11	uc001aee.2	Q5TA45	OTTHUMG00000003330	ENST00000435064.1:c.1170C>T	1.37:g.1248291G>A						CPSF3L_ENST00000421495.2_Silent_p.S132S|CPSF3L_ENST00000435064.1_Silent_p.S390S|CPSF3L_ENST00000462432.1_5'UTR|CPSF3L_ENST00000450926.2_Silent_p.S368S|CPSF3L_ENST00000411962.1_Silent_p.S292S|CPSF3L_ENST00000545578.1_Silent_p.S361S|CPSF3L_ENST00000419704.1_Silent_p.S289S	p.S396S	NM_001256456.1	NP_001243385.1	Q5TA45	INT11_HUMAN		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)	14	1643	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	390					A8K5S2|B3KPR3|B4DM87|G3V1S5|Q5TA46|Q5TA48|Q5TA52|Q5TA53|Q5TA54|Q7L3D7|Q96HY1|Q9BW36|Q9H0F9|Q9H8R5|Q9HAA6|Q9NWX9	Silent	SNP	ENST00000435064.1	37	c.1188C>T	CCDS21.1																																																																																				0.637	CPSF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009360.2	NM_017871		10	16	0	0	0	1	0	10	16				
SPINK5	11005	broad.mit.edu	37	5	147505314	147505314	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr5:147505314T>C	ENST00000256084.7	+	29	2810	c.2768T>C	c.(2767-2769)aTa>aCa	p.I923T	SPINK5_ENST00000359874.3_Missense_Mutation_p.I953T	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	923	Kazal-like 14. {ECO:0000255|PROSITE- ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAAACTATATAAGGAACAAT	0.413																																						ENST00000359874.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64						c.(2857-2859)aTa>aCa		serine peptidase inhibitor, Kazal type 5							211.0	207.0	208.0					5																	147505314		1914	4127	6041	SO:0001583	missense	11005				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity	g.chr5:147505314T>C	AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"""Serine peptidase inhibitors, Kazal type"""	15464	protein-coding gene	gene with protein product	"""lymphoepithelial Kazal-type-related inhibitor"""	605010	"""serine protease inhibitor, Kazal type 5"""			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.2768T>C	5.37:g.147505314T>C	ENSP00000256084:p.Ile923Thr					SPINK5_ENST00000256084.7_Missense_Mutation_p.I923T	p.I953T	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		30	2931	+			923			Kazal-like 14.		A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Missense_Mutation	SNP	ENST00000256084.7	37	c.2858T>C	CCDS43382.1	.	.	.	.	.	.	.	.	.	.	T	10.07	1.248802	0.22880	.	.	ENSG00000133710	ENST00000359874;ENST00000256084	T;T	0.06068	3.35;3.35	5.5	0.265	0.15612	Proteinase inhibitor I1, Kazal (1);	2.489640	0.01513	N	0.018001	T	0.05364	0.0142	L	0.29908	0.895	0.09310	N	1	B;B	0.19200	0.015;0.034	B;B	0.23150	0.038;0.044	T	0.37820	-0.9689	10	0.10111	T	0.7	5.8793	4.5343	0.12020	0.0:0.2551:0.1581:0.5867	.	953;923	Q9NQ38-3;Q9NQ38	.;ISK5_HUMAN	T	953;923	ENSP00000352936:I953T;ENSP00000256084:I923T	ENSP00000256084:I923T	I	+	2	0	SPINK5	147485507	0.000000	0.05858	0.000000	0.03702	0.072000	0.16883	-0.192000	0.09587	-0.097000	0.12307	0.533000	0.62120	ATA		0.413	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2	NM_001127698		60	90	0	0	0	1	0	60	90				
SPATA31C1	441452	broad.mit.edu	37	9	90535986	90535986	+	RNA	SNP	G	G	A			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr9:90535986G>A	ENST00000602681.1	+	0	1890							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GCCCTGCGTCGCAGAATAAAG	0.517																																						ENST00000602681.1																			0																				20.0	17.0	18.0					9																	90535986		692	1591	2283			0							g.chr9:90535986G>A	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"""family with sequence similarity 75, member C1"""	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90535986G>A														0	1890	+									RNA	SNP	ENST00000602681.1	37																																																																																						0.517	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124		7	174	0	0	0	1	0	7	174				
SCN2A	6326	broad.mit.edu	37	2	166165198	166165198	+	Frame_Shift_Del	DEL	A	A	-			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr2:166165198delA	ENST00000375437.2	+	5	789	c.499delA	c.(499-501)actfs	p.T167fs	SCN2A_ENST00000357398.3_Frame_Shift_Del_p.T167fs|SCN2A_ENST00000283256.6_Frame_Shift_Del_p.T167fs|SCN2A_ENST00000375427.2_Frame_Shift_Del_p.T167fs	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	167					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGGAATTTATACTTTTGAATC	0.313																																						ENST00000375437.2																			0				NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(499-501)ctfs		sodium channel, voltage-gated, type II, alpha subunit	Lamotrigine(DB00555)						72.0	78.0	76.0					2																	166165198		2197	4296	6493	SO:0001589	frameshift_variant	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166165198delA	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.499delA	2.37:g.166165198delA	ENSP00000364586:p.Thr167fs					SCN2A_ENST00000283256.6_Frame_Shift_Del_p.T167fs|SCN2A_ENST00000375427.2_Frame_Shift_Del_p.T167fs|SCN2A_ENST00000357398.3_Frame_Shift_Del_p.T167fs	p.T167fs	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN			5	789	+			167					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Frame_Shift_Del	DEL	ENST00000375437.2	37	c.499delA	CCDS33314.1																																																																																				0.313	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		24	51						24	51	---	---	---	---
PUS7L	83448	broad.mit.edu	37	12	44148985	44148996	+	In_Frame_Del	DEL	CAACGTGATCAT	CAACGTGATCAT	-	rs145711853|rs201700465	byFrequency	TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr12:44148985_44148996delCAACGTGATCAT	ENST00000416848.2	-	2	541_552	c.53_64delATGATCACGTTG	c.(52-66)aatgatcacgttgga>aga	p.18_22NDHVG>R	PUS7L_ENST00000553166.1_In_Frame_Del_p.18_22NDHVG>R|PUS7L_ENST00000344862.5_In_Frame_Del_p.18_22NDHVG>R|PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000551923.1_In_Frame_Del_p.18_22NDHVG>R	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	18					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		CCATGAAATCCAACGTGATCATTAAAGAAACA	0.33																																						ENST00000416848.2																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(52-66)aga>a		pseudouridylate synthase 7 homolog (S. cerevisiae)-like																																				SO:0001651	inframe_deletion	83448				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr12:44148985_44148996delCAACGTGATCAT	BX647494	CCDS8743.1, CCDS61104.1	12q12	2006-02-07				ENSG00000129317			25276	protein-coding gene	gene with protein product						11230166	Standard	NM_001098615		Approved	DKFZP434G1415	uc001rnr.5	Q9H0K6	OTTHUMG00000169423	ENST00000416848.2:c.53_64delATGATCACGTTG	12.37:g.44148985_44148996delCAACGTGATCAT	ENSP00000415899:p.Asn18_Gly22delinsArg					PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000553166.1_In_Frame_Del_p.NDHVG18del|PUS7L_ENST00000551923.1_In_Frame_Del_p.NDHVG18del|PUS7L_ENST00000344862.5_In_Frame_Del_p.NDHVG18del	p.NDHVG18del	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN		GBM - Glioblastoma multiforme(48;0.0402)	2	541_552	-	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)	18					B3KUJ1|Q05CU0|Q6AHZ3|Q6NUP2	In_Frame_Del	DEL	ENST00000416848.2	37	c.53_64delATGATCACGTTG	CCDS8743.1																																																																																				0.330	PUS7L-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403931.1	NM_031292		10	17						10	17	---	---	---	---
RP11-26F2.1	0	broad.mit.edu	37	15	23131706	23131706	+	RNA	DEL	A	A	-	rs144278477	byFrequency	TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr15:23131706delA	ENST00000560053.1	-	0	129																											GATATTCTCCAATGTCATTTT	0.259													|||unknown(ALL_OTHER_Ns)	825	0.164736	0.3124	0.2651	5008	,	,		14054	0.0149		0.1382	False		,,,				2504	0.0757					ENST00000560053.1																			0																																																			0							g.chr15:23131706delA																													15.37:g.23131706delA														0	129	-									RNA	DEL	ENST00000560053.1	37																																																																																						0.259	RP11-26F2.1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415904.1			4	3						4	3	---	---	---	---
SNX29P2	440352	broad.mit.edu	37	16	29337651	29337652	+	lincRNA	INS	-	-	CAGAG	rs140530121|rs375360483	byFrequency	TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr16:29337651_29337652insCAGAG	ENST00000398878.3	+	0	724							Q8IUI4	S29P2_HUMAN	sorting nexin 29 pseudogene 2																		CCCCGTTCACACCTGTTTCCTC	0.599														198	0.0395367	0.0507	0.0259	5008	,	,		15880	0.001		0.0527	False		,,,				2504	0.0603					ENST00000398878.3																			0																																																			0							g.chr16:29337651_29337652insCAGAG	BX648280		16p11.2	2014-03-21	2011-08-16	2011-08-16	ENSG00000198106	ENSG00000198106			31914	pseudogene	pseudogene			"""RUN domain containing 2C"""	RUNDC2C			Standard	NR_002939		Approved		uc021tfw.1	Q8IUI4			16.37:g.29337651_29337652insCAGAG														0	724	+									RNA	INS	ENST00000398878.3	37																																																																																						0.599	SNX29P2-202	KNOWN	basic	lincRNA	lincRNA		NR_002939		3	6						3	6	---	---	---	---
TXLNGY	246126	broad.mit.edu	37	Y	21758039	21758039	+	RNA	DEL	A	A	-			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chrY:21758039delA	ENST00000253320.4	+	0	3120																				haematopoietic_and_lymphoid_tissue(1)	1						TACTTCTTGGAAAAAAAAAAA	0.378													GA	15	0.0125209	0.0063	0.0059	1198	,	,		6405	0.0082		0.0063	False		,,,				1198	0.0038					ENST00000253320.4																			0				haematopoietic_and_lymphoid_tissue(1)	1																																														0							g.chrY:21758039delA																													Y.37:g.21758039delA										Q9BZA5	CY15A_HUMAN			0	3120	+									RNA	DEL	ENST00000253320.4	37																																																																																						0.378	TXLNG2P-012	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000088781.1			2	4						2	4	---	---	---	---
