#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ZMYND12	84217	broad.mit.edu	37	1	42898890	42898890	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr1:42898890T>G	ENST00000372565.3	-	7	1168	c.899A>C	c.(898-900)gAc>gCc	p.D300A	ZMYND12_ENST00000475426.1_5'UTR|ZMYND12_ENST00000433602.2_Missense_Mutation_p.D190A	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	300						intracellular (GO:0005622)	metal ion binding (GO:0046872)	p.D300A(1)		NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGGGGCTTTGTCAGATGTAGA	0.408																																						ENST00000372565.3																			1	Substitution - Missense(1)	p.D300A(1)	prostate(1)	NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17						c.(898-900)gAc>gCc		zinc finger, MYND-type containing 12							164.0	174.0	171.0					1																	42898890		2203	4300	6503	SO:0001583	missense	84217					intracellular	zinc ion binding	g.chr1:42898890T>G	AK057384	CCDS467.1	1p34.1	2008-02-05			ENSG00000066185	ENSG00000066185		"""Zinc fingers, MYND-type"""	21192	protein-coding gene	gene with protein product						11230166	Standard	NM_032257		Approved	DKFZp434N2435	uc001chj.3	Q9H0C1	OTTHUMG00000007333	ENST00000372565.3:c.899A>C	1.37:g.42898890T>G	ENSP00000361646:p.Asp300Ala		Somatic				ZMYND12_ENST00000433602.2_Missense_Mutation_p.D190A|ZMYND12_ENST00000475426.1_5'UTR	p.D300A	NM_032257.4	NP_115633.3	WXS	Illumina GAIIx	Phase_I	Q9H0C1	ZMY12_HUMAN			7	1168	-	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	300					Q5VUS6|Q8TC87|Q96M51	Missense_Mutation	SNP	ENST00000372565.3	37	c.899A>C	CCDS467.1	.	.	.	.	.	.	.	.	.	.	T	2.233	-0.375612	0.05034	.	.	ENSG00000066185	ENST00000372565;ENST00000433602	T;T	0.56275	0.47;0.47	5.71	1.82	0.25136	.	0.983518	0.08323	N	0.963455	T	0.38108	0.1028	N	0.22421	0.69	0.09310	N	1	B;B	0.20887	0.049;0.022	B;B	0.21360	0.034;0.01	T	0.30765	-0.9967	10	0.49607	T	0.09	-0.3941	7.3162	0.26501	0.0:0.0776:0.3494:0.5731	.	190;300	E9PFV0;Q9H0C1	.;ZMY12_HUMAN	A	300;190	ENSP00000361646:D300A;ENSP00000398340:D190A	ENSP00000361646:D300A	D	-	2	0	ZMYND12	42671477	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	0.401000	0.20948	0.033000	0.15463	0.533000	0.62120	GAC		0.408	ZMYND12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019170.1	NM_032257		33	452	33	452	---	---	---	---
MCL1	4170	broad.mit.edu	37	1	150551355	150551355	+	Missense_Mutation	SNP	C	C	T	rs367658301		TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr1:150551355C>T	ENST00000369026.2	-	1	711	c.652G>A	c.(652-654)Gat>Aat	p.D218N	MCL1_ENST00000464132.1_5'Flank|MCL1_ENST00000307940.3_Missense_Mutation_p.D218N	NM_001197320.1|NM_021960.4	NP_001184249.1|NP_068779.1	Q07820	MCL1_HUMAN	myeloid cell leukemia 1	218					apoptotic mitochondrial changes (GO:0008637)|cell fate determination (GO:0001709)|cellular homeostasis (GO:0019725)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|protein transmembrane transport (GO:0071806)|regulation of response to DNA damage stimulus (GO:2001020)|response to cytokine (GO:0034097)	Bcl-2 family protein complex (GO:0097136)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	BH3 domain binding (GO:0051434)|protein channel activity (GO:0015266)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.D218N(1)		endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TGCACGCCATCCCCAACCCGT	0.622																																						ENST00000369026.2																			1	Substitution - Missense(1)	p.D218N(1)	prostate(1)	endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8						c.(652-654)Gat>Aat		myeloid cell leukemia sequence 1 (BCL2-related)		C	ASN/ASP,ASN/ASP,ASN/ASP	0,4406		0,0,2203	60.0	66.0	64.0		193,652,652	4.6	0.9	1		64	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	MCL1	NM_001197320.1,NM_021960.4,NM_182763.2	23,23,23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	65/198,218/351,218/272	150551355	1,13005	2203	4300	6503	SO:0001583	missense	4170				anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nucleoplasm	BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity	g.chr1:150551355C>T	BC017197	CCDS956.1, CCDS957.1, CCDS72909.1	1q21	2014-03-07	2014-03-07		ENSG00000143384	ENSG00000143384			6943	protein-coding gene	gene with protein product		159552	"""myeloid cell leukemia sequence 1 (BCL2-related)"""			7682708, 7835896	Standard	NM_021960		Approved	BCL2L3, Mcl-1	uc001euz.3	Q07820	OTTHUMG00000034867	ENST00000369026.2:c.652G>A	1.37:g.150551355C>T	ENSP00000358022:p.Asp218Asn		Somatic				MCL1_ENST00000307940.3_Missense_Mutation_p.D218N	p.D218N	NM_001197320.1|NM_021960.4	NP_001184249.1|NP_068779.1	WXS	Illumina GAIIx	Phase_I	Q07820	MCL1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		1	711	-	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		218					B2R6B2|D3DV03|D3DV04|Q9HD91|Q9NRQ3|Q9NRQ4|Q9UHR7|Q9UHR8|Q9UHR9|Q9UNJ1	Missense_Mutation	SNP	ENST00000369026.2	37	c.652G>A	CCDS957.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.161706	0.57368	0.0	1.16E-4	ENSG00000143384	ENST00000369026;ENST00000307940;ENST00000439749	T;T	0.08634	3.07;3.07	4.58	4.58	0.56647	Apoptosis regulator, Bcl2-like (1);Apoptosis regulator, Bcl-2, BH3 motif, conserved site (1);Apoptosis regulator, Bcl-2, BH (2);	0.454797	0.24113	N	0.041433	T	0.04003	0.0112	L	0.38733	1.17	0.46564	D	0.999107	B;B	0.32573	0.376;0.195	B;B	0.29598	0.104;0.103	T	0.27157	-1.0082	10	0.87932	D	0	-10.4498	14.9264	0.70881	0.0:1.0:0.0:0.0	.	218;218	Q07820-2;Q07820	.;MCL1_HUMAN	N	218;218;147	ENSP00000358022:D218N;ENSP00000309973:D218N	ENSP00000309973:D218N	D	-	1	0	MCL1	148817979	1.000000	0.71417	0.943000	0.38184	0.500000	0.33767	4.803000	0.62546	2.367000	0.80283	0.561000	0.74099	GAT		0.622	MCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084402.1	NM_021960		34	92	34	92	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237754089	237754089	+	Silent	SNP	T	T	A			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr1:237754089T>A	ENST00000366574.2	+	31	4274	c.3957T>A	c.(3955-3957)gcT>gcA	p.A1319A	RYR2_ENST00000542537.1_Silent_p.A1303A|RYR2_ENST00000360064.6_Silent_p.A1317A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1319	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGACGGTGGCTGGAGGGCTCC	0.512																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(3955-3957)gcT>gcA		ryanodine receptor 2 (cardiac)							124.0	120.0	122.0					1																	237754089		1921	4134	6055	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237754089T>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.3957T>A	1.37:g.237754089T>A			Somatic				RYR2_ENST00000542537.1_Silent_p.A1303A|RYR2_ENST00000360064.6_Silent_p.A1317A	p.A1319A	NM_001035.2	NP_001026.2	WXS	Illumina GAIIx	Phase_I	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		31	4274	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1319			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.3957T>A	CCDS55691.1																																																																																				0.512	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		4	221	4	221	---	---	---	---
HEATR5B	54497	broad.mit.edu	37	2	37283622	37283622	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr2:37283622A>G	ENST00000233099.5	-	16	2455	c.2360T>C	c.(2359-2361)cTt>cCt	p.L787P	HEATR5B_ENST00000354531.2_Missense_Mutation_p.L787P	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	787						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)				TACACCAAAAAGGGCCACAGA	0.393																																						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.(2359-2361)cTt>cCt		HEAT repeat containing 5B							84.0	90.0	88.0					2																	37283622		2203	4300	6503	SO:0001583	missense	54497						binding	g.chr2:37283622A>G	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.2360T>C	2.37:g.37283622A>G	ENSP00000233099:p.Leu787Pro		Somatic				HEATR5B_ENST00000354531.2_Missense_Mutation_p.L787P	p.L787P	NM_019024.1	NP_061897.1	WXS	Illumina GAIIx	Phase_I	Q9P2D3	HTR5B_HUMAN			16	2455	-		all_hematologic(82;0.21)	787					B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	37	c.2360T>C	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.474722	0.84640	.	.	ENSG00000008869	ENST00000233099;ENST00000354531	T;T	0.12984	2.63;2.63	5.5	5.5	0.81552	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.43523	0.1251	M	0.86343	2.81	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.51450	-0.8704	10	0.87932	D	0	-17.4894	15.5924	0.76543	1.0:0.0:0.0:0.0	.	787	Q9P2D3	HTR5B_HUMAN	P	787	ENSP00000233099:L787P;ENSP00000346531:L787P	ENSP00000233099:L787P	L	-	2	0	HEATR5B	37137126	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.287000	0.95975	2.086000	0.62901	0.482000	0.46254	CTT		0.393	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		3	175	3	175	---	---	---	---
IGKV1-17	28937	broad.mit.edu	37	2	89417050	89417050	+	RNA	SNP	C	C	A			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr2:89417050C>A	ENST00000490686.1	-	0	160									immunoglobulin kappa variable 1-17																		ACTTGCCCGGCAAGTGATGGT	0.498																																						ENST00000490686.1																			0																				58.0	77.0	72.0					2																	89417050		1467	3972	5439			28937							g.chr2:89417050C>A	X72808		2p11.2	2012-02-08			ENSG00000240382	ENSG00000240382		"""Immunoglobulins / IGK locus"""	5733	other	immunoglobulin gene							Standard	NG_000834		Approved	IGKV117, A30			OTTHUMG00000151650		2.37:g.89417050C>A			Somatic								WXS	Illumina GAIIx	Phase_I					0	160	-									RNA	SNP	ENST00000490686.1	37																																																																																						0.498	IGKV1-17-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323399.1	NG_000834		66	255	66	255	---	---	---	---
CCDC74A	90557	broad.mit.edu	37	2	132290465	132290465	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr2:132290465G>T	ENST00000295171.6	+	6	1043	c.905G>T	c.(904-906)gGg>gTg	p.G302V	CCDC74A_ENST00000409856.3_Missense_Mutation_p.G236V|CCDC74A_ENST00000467992.2_3'UTR	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	302			G -> R (in dbSNP:rs13660).					p.G302V(1)		endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CTCCTGGAAGGGAGCCAGAGG	0.692																																						ENST00000295171.6																			1	Substitution - Missense(1)	p.G302V(1)	prostate(1)	endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(904-906)gGg>gTg		coiled-coil domain containing 74A							45.0	52.0	50.0					2																	132290465		2203	4300	6503	SO:0001583	missense	90557							g.chr2:132290465G>T		CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.905G>T	2.37:g.132290465G>T	ENSP00000295171:p.Gly302Val		Somatic				CCDC74A_ENST00000467992.2_3'UTR|CCDC74A_ENST00000409856.3_Missense_Mutation_p.G236V	p.G302V	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	WXS	Illumina GAIIx	Phase_I	Q96AQ1	CC74A_HUMAN			6	1043	+			302		G -> R (in dbSNP:rs13660).			Q6P4I5	Missense_Mutation	SNP	ENST00000295171.6	37	c.905G>T	CCDS2167.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	13.52|13.52	2.262932|2.262932	0.39995|0.39995	.|.	.|.	ENSG00000163040|ENSG00000163040	ENST00000295171;ENST00000409856|ENST00000434330	T;T|.	0.35236|.	1.32;1.32|.	2.66|2.66	1.27|1.27	0.21489|0.21489	.|.	0.449735|0.449735	0.16074|0.16074	U|U	0.230852|0.230852	T|.	0.42337|.	0.1198|.	M|M	0.63428|0.63428	1.95|1.95	0.25986|0.25986	N|N	0.982319|0.982319	P;P|.	0.46512|.	0.879;0.49|.	P;B|.	0.45538|.	0.484;0.267|.	T|.	0.38950|.	-0.9637|.	10|.	0.72032|0.87932	D|D	0.01|0	.|.	3.4143|3.4143	0.07369|0.07369	0.3419:0.0:0.6581:0.0|0.3419:0.0:0.6581:0.0	.|.	236;302|.	Q96AQ1-2;Q96AQ1|.	.;CC74A_HUMAN|.	V|X	302;236|191	ENSP00000295171:G302V;ENSP00000387009:G236V|.	ENSP00000295171:G302V|ENSP00000406839:G191X	G|G	+|+	2|1	0|0	CCDC74A|CCDC74A	132006935|132006935	0.338000|0.338000	0.24775|0.24775	0.925000|0.925000	0.36789|0.36789	0.173000|0.173000	0.22820|0.22820	0.697000|0.697000	0.25556|0.25556	1.192000|1.192000	0.43071|0.43071	0.194000|0.194000	0.17425|0.17425	GGG|GGA		0.692	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254570.2	NM_138770		11	110	11	110	---	---	---	---
PIKFYVE	200576	broad.mit.edu	37	2	209190233	209190233	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr2:209190233G>T	ENST00000264380.4	+	20	2856	c.2698G>T	c.(2698-2700)Ggg>Tgg	p.G900W		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	900					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						AGGGCATGAGGGGGCTGTCCA	0.498																																						ENST00000264380.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						c.(2698-2700)Ggg>Tgg		phosphoinositide kinase, FYVE finger containing							96.0	91.0	93.0					2																	209190233		2203	4300	6503	SO:0001583	missense	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209190233G>T	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.2698G>T	2.37:g.209190233G>T	ENSP00000264380:p.Gly900Trp		Somatic					p.G900W	NM_015040.3	NP_055855.2	WXS	Illumina GAIIx	Phase_I	Q9Y2I7	FYV1_HUMAN			20	2856	+			900					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	c.2698G>T	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	G	9.796	1.179128	0.21787	.	.	ENSG00000115020	ENST00000264380;ENST00000392200;ENST00000452564	T;T	0.28895	1.59;1.76	6.07	6.07	0.98685	.	0.456886	0.21684	N	0.070670	T	0.27419	0.0673	L	0.51422	1.61	0.23287	N	0.997971	P;P	0.39831	0.69;0.69	B;B	0.39185	0.293;0.215	T	0.42732	-0.9434	10	0.66056	D	0.02	-1.14	5.9929	0.19476	0.1687:0.163:0.6683:0.0	.	900;844	Q9Y2I7;E9PDH4	FYV1_HUMAN;.	W	900;476;844	ENSP00000264380:G900W;ENSP00000405736:G844W	ENSP00000264380:G900W	G	+	1	0	PIKFYVE	208898478	0.571000	0.26659	0.074000	0.20217	0.032000	0.12392	3.873000	0.56093	2.890000	0.99128	0.650000	0.86243	GGG		0.498	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		4	183	4	183	---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126337635	126337635	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr4:126337635C>G	ENST00000394329.3	+	6	6889	c.6876C>G	c.(6874-6876)aaC>aaG	p.N2292K	FAT4_ENST00000335110.5_Missense_Mutation_p.N590K	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2292	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N2292K(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GAGGATCTAACAGCAAACTCT	0.413																																						ENST00000394329.3																			2	Substitution - Missense(2)	p.N2292K(2)	prostate(2)	NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(6874-6876)aaC>aaG		FAT atypical cadherin 4							295.0	281.0	286.0					4																	126337635		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126337635C>G	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.6876C>G	4.37:g.126337635C>G	ENSP00000377862:p.Asn2292Lys		Somatic				FAT4_ENST00000335110.5_Missense_Mutation_p.N590K	p.N2292K	NM_024582.4	NP_078858.4	WXS	Illumina GAIIx	Phase_I	Q6V0I7	FAT4_HUMAN			6	6889	+			2292			Cadherin 22.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.6876C>G	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	16.49	3.136979	0.56936	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.59906	0.23;0.23	5.23	1.44	0.22558	Cadherin (4);Cadherin-like (1);	0.000000	0.36815	U	0.002398	T	0.80803	0.4693	H	0.97103	3.94	0.44030	D	0.996755	D;D	0.89917	0.995;1.0	D;D	0.87578	0.97;0.998	T	0.79931	-0.1595	10	0.59425	D	0.04	.	9.1367	0.36879	0.0:0.62:0.0:0.38	.	590;2292	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	K	2292;590	ENSP00000377862:N2292K;ENSP00000335169:N590K	ENSP00000335169:N590K	N	+	3	2	FAT4	126557085	0.262000	0.24073	0.936000	0.37596	0.856000	0.48823	-0.283000	0.08433	-0.049000	0.13379	-0.244000	0.11960	AAC		0.413	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		118	391	118	391	---	---	---	---
FGG	2266	broad.mit.edu	37	4	155532986	155532986	+	Silent	SNP	T	T	C			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr4:155532986T>C	ENST00000336098.3	-	4	410	c.372A>G	c.(370-372)gcA>gcG	p.A124A	FGG_ENST00000404648.3_Silent_p.A124A|FGG_ENST00000405164.1_Silent_p.A124A|FGG_ENST00000407946.1_Silent_p.A124A	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	124					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)	p.A124A(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TTAAAATCGATGCTTCATATT	0.299																																						ENST00000404648.3																			1	Substitution - coding silent(1)	p.A124A(1)	prostate(1)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(370-372)gcA>gcG		fibrinogen gamma chain	Sucralfate(DB00364)						86.0	89.0	88.0					4																	155532986		2203	4297	6500	SO:0001819	synonymous_variant	2266				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155532986T>C		CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3694	protein-coding gene	gene with protein product		134850	"""fibrinogen, gamma polypeptide"""				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.372A>G	4.37:g.155532986T>C			Somatic				FGG_ENST00000336098.3_Silent_p.A124A|FGG_ENST00000407946.1_Silent_p.A124A|FGG_ENST00000405164.1_Silent_p.A124A	p.A124A	NM_000509.4	NP_000500.2	WXS	Illumina GAIIx	Phase_I	P02679	FIBG_HUMAN			4	611	-	all_hematologic(180;0.215)	Renal(120;0.0458)	124					A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Silent	SNP	ENST00000336098.3	37	c.372A>G	CCDS3788.1																																																																																				0.299	FGG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317581.1	NM_021870		28	66	28	66	---	---	---	---
KLHL3	26249	broad.mit.edu	37	5	136963996	136963996	+	Silent	SNP	C	C	T			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr5:136963996C>T	ENST00000309755.4	-	13	2024	c.1581G>A	c.(1579-1581)cgG>cgA	p.R527R	KLHL3_ENST00000506491.1_Silent_p.R445R|KLHL3_ENST00000541417.1_3'UTR|KLHL3_ENST00000508657.1_Silent_p.R495R|KLHL3_ENST00000506873.1_5'UTR	NM_017415.2	NP_059111.2	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	527					distal tubule morphogenesis (GO:0072156)|ion homeostasis (GO:0050801)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|renal sodium ion absorption (GO:0070294)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		CTGCGTTGCGCCGGCACATGT	0.537																																						ENST00000508657.1																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(1483-1485)cgG>cgA		kelch-like family member 3							223.0	192.0	203.0					5																	136963996		2203	4300	6503	SO:0001819	synonymous_variant	26249					cytoplasm|cytoskeleton	actin binding|structural molecule activity	g.chr5:136963996C>T	AB032955	CCDS4192.1, CCDS58969.1, CCDS58970.1	5q31	2013-01-30	2013-01-30		ENSG00000146021	ENSG00000146021		"""Kelch-like"", ""BTB/POZ domain containing"""	6354	protein-coding gene	gene with protein product		605775	"""kelch (Drosophila)-like 3"", ""kelch-like 3 (Drosophila)"""			10843806	Standard	NM_017415		Approved	KIAA1129	uc010jek.3	Q9UH77	OTTHUMG00000129155	ENST00000309755.4:c.1581G>A	5.37:g.136963996C>T			Somatic				KLHL3_ENST00000506491.1_Silent_p.R445R|KLHL3_ENST00000541417.1_3'UTR|KLHL3_ENST00000309755.4_Silent_p.R527R|KLHL3_ENST00000506873.1_5'UTR	p.R495R	NM_001257194.1	NP_001244123.1	WXS	Illumina GAIIx	Phase_I	Q9UH77	KLHL3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)	13	2199	-		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	527					B2RBK7|Q9UH75|Q9UH76|Q9ULU0|Q9Y6V6	Silent	SNP	ENST00000309755.4	37	c.1485G>A	CCDS4192.1																																																																																				0.537	KLHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251220.2			23	219	23	219	---	---	---	---
PCDHA3	56145	broad.mit.edu	37	5	140183011	140183011	+	Silent	SNP	C	C	T			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr5:140183011C>T	ENST00000522353.2	+	1	2229	c.2229C>T	c.(2227-2229)agC>agT	p.S743S	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Silent_p.S743S|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	743	6 X 4 AA repeats of P-X-X-P.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.S743S(4)|p.S743R(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGCTCCAGCGCGGTGGGGA	0.637																																						ENST00000522353.2																			6	Substitution - coding silent(4)|Substitution - Missense(2)	p.S743S(4)|p.S743R(2)	prostate(2)|lung(2)|endometrium(2)	NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95						c.(2227-2229)agC>agT									78.0	85.0	83.0					5																	140183011		2203	4300	6503	SO:0001819	synonymous_variant	56145							g.chr5:140183011C>T	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.2229C>T	5.37:g.140183011C>T			Somatic				PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Silent_p.S743S|PCDHA2_ENST00000526136.1_Intron	p.S743S	NM_018906.2	NP_061729.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2229	+								O75286	Silent	SNP	ENST00000522353.2	37	c.2229C>T	CCDS54915.1																																																																																				0.637	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		5	288	5	288	---	---	---	---
PCDHA7	56141	broad.mit.edu	37	5	140215137	140215137	+	Missense_Mutation	SNP	C	C	T	rs550090383		TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr5:140215137C>T	ENST00000525929.1	+	1	1169	c.1169C>T	c.(1168-1170)aCg>aTg	p.T390M	PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.T390M|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	390	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.T390M(2)		NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTCCCTGACGCCCCGCGTT	0.542													.|||	1	0.000199681	0.0	0.0	5008	,	,		20599	0.001		0.0	False		,,,				2504	0.0				NSCLC(160;258 2013 5070 22440 28951)	ENST00000525929.1																			2	Substitution - Missense(2)	p.T390M(2)	prostate(2)	NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(1168-1170)aCg>aTg									137.0	135.0	135.0					5																	140215137		2203	4299	6502	SO:0001583	missense	56141							g.chr5:140215137C>T	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1169C>T	5.37:g.140215137C>T	ENSP00000436426:p.Thr390Met		Somatic				PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.T390M|PCDHA3_ENST00000522353.2_Intron	p.T390M	NM_018910.2	NP_061733.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1169	+								O75282	Missense_Mutation	SNP	ENST00000525929.1	37	c.1169C>T	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	C	0.181	-1.062443	0.01950	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.01854	4.6;4.6	4.04	0.888	0.19206	Cadherin (4);Cadherin-like (1);	0.730603	0.10108	U	0.715048	T	0.01940	0.0061	L	0.31804	0.96	0.09310	N	1	P;P	0.39759	0.687;0.555	B;B	0.38616	0.119;0.277	T	0.47484	-0.9114	10	0.38643	T	0.18	.	3.4208	0.07393	0.3335:0.4015:0.1813:0.0837	.	390;390	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	M	390	ENSP00000436426:T390M;ENSP00000367365:T390M	ENSP00000367365:T390M	T	+	2	0	PCDHA7	140195321	0.000000	0.05858	0.001000	0.08648	0.136000	0.21042	-4.674000	0.00200	0.275000	0.22094	0.305000	0.20034	ACG		0.542	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		6	293	6	293	---	---	---	---
PCDHA13	56136	broad.mit.edu	37	5	140263465	140263465	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr5:140263465C>T	ENST00000289272.2	+	1	1612	c.1612C>T	c.(1612-1614)Cgc>Tgc	p.R538C	PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.R538C|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	538	Cadherin 5. {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)	p.R538C(1)		NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGAGCGCGCGCGACTCTGG	0.682																																					Melanoma(147;1739 1852 5500 27947 37288)	ENST00000289272.2																			1	Substitution - Missense(1)	p.R538C(1)	prostate(1)	NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95						c.(1612-1614)Cgc>Tgc									73.0	79.0	77.0					5																	140263465		2203	4299	6502	SO:0001583	missense	56136							g.chr5:140263465C>T	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1612C>T	5.37:g.140263465C>T	ENSP00000289272:p.Arg538Cys		Somatic				PCDHA13_ENST00000409494.1_Missense_Mutation_p.R538C|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron	p.R538C	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1612	+								O75277	Missense_Mutation	SNP	ENST00000289272.2	37	c.1612C>T	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	C	10.31	1.314691	0.23908	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.54866	0.55;0.55	4.54	3.67	0.42095	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.38639	0.1048	L	0.45422	1.42	0.34065	D	0.657761	B;B;B	0.30542	0.051;0.08;0.284	B;B;B	0.25506	0.017;0.061;0.059	T	0.52756	-0.8533	9	0.87932	D	0	.	3.1978	0.06639	0.2757:0.492:0.1433:0.089	.	538;538;538	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	C	538	ENSP00000386821:R538C;ENSP00000289272:R538C	ENSP00000289272:R538C	R	+	1	0	PCDHA13	140243649	0.000000	0.05858	1.000000	0.80357	0.510000	0.34073	-1.686000	0.01929	1.101000	0.41535	0.561000	0.74099	CGC		0.682	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		5	167	5	167	---	---	---	---
TYW1	55253	broad.mit.edu	37	7	66548462	66548462	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr7:66548462C>A	ENST00000359626.5	+	11	1484	c.1320C>A	c.(1318-1320)gaC>gaA	p.D440E		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	440					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)	p.D440E(1)		breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				GGAAGATGGACCAGCCTGAAA	0.443																																						ENST00000359626.5																			1	Substitution - Missense(1)	p.D440E(1)	prostate(1)	breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46						c.(1318-1320)gaC>gaA		tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)							96.0	93.0	94.0					7																	66548462		2203	4300	6503	SO:0001583	missense	55253				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:66548462C>A	AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"""	611243	"""radical S-adenosyl methionine and flavodoxin domains 1"""	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.1320C>A	7.37:g.66548462C>A	ENSP00000352645:p.Asp440Glu		Somatic					p.D440E	NM_018264.2	NP_060734.2	WXS	Illumina GAIIx	Phase_I	Q9NV66	TYW1_HUMAN			11	1484	+		Lung NSC(55;0.0846)|all_lung(88;0.183)	440					Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Missense_Mutation	SNP	ENST00000359626.5	37	c.1320C>A	CCDS5538.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.477772	0.84640	.	.	ENSG00000198874	ENST00000359626	D	0.90261	-2.64	4.62	4.62	0.57501	Radical SAM (1);	0.000000	0.85682	U	0.000000	D	0.95943	0.8679	M	0.89904	3.07	0.58432	D	0.999997	D	0.65815	0.995	D	0.79108	0.992	D	0.96802	0.9590	10	0.87932	D	0	.	15.333	0.74229	0.0:1.0:0.0:0.0	.	440	Q9NV66	TYW1_HUMAN	E	440	ENSP00000352645:D440E	ENSP00000352645:D440E	D	+	3	2	TYW1	66185897	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.451000	0.52964	2.273000	0.75805	0.603000	0.83216	GAC		0.443	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264		5	151	5	151	---	---	---	---
LOXL2	4017	broad.mit.edu	37	8	23191091	23191091	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr8:23191091C>T	ENST00000389131.3	-	5	1158	c.789G>A	c.(787-789)atG>atA	p.M263I	LOXL2_ENST00000518472.1_5'Flank|RP11-177H13.2_ENST00000519692.1_RNA	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	263	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)	p.M263I(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CGGTGCAGTCCATGGAGAATG	0.612																																						ENST00000389131.3																			1	Substitution - Missense(1)	p.M263I(1)	prostate(1)	breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(787-789)atG>atA		lysyl oxidase-like 2							72.0	59.0	63.0					8																	23191091		2203	4300	6503	SO:0001583	missense	4017				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity	g.chr8:23191091C>T	U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.789G>A	8.37:g.23191091C>T	ENSP00000373783:p.Met263Ile		Somatic					p.M263I	NM_002318.2	NP_002309.1	WXS	Illumina GAIIx	Phase_I	Q9Y4K0	LOXL2_HUMAN		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)	5	1158	-		Prostate(55;0.0453)|Breast(100;0.143)	263			SRCR 2.		B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Missense_Mutation	SNP	ENST00000389131.3	37	c.789G>A	CCDS34864.1	.	.	.	.	.	.	.	.	.	.	c	14.18	2.457182	0.43634	.	.	ENSG00000134013	ENST00000389131	T	0.31510	1.49	5.93	5.93	0.95920	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.193076	0.64402	D	0.000009	T	0.22085	0.0532	N	0.25144	0.715	0.26372	N	0.976876	B	0.02656	0.0	B	0.06405	0.002	T	0.10337	-1.0634	10	0.45353	T	0.12	.	12.3009	0.54874	0.0:0.9225:0.0:0.0775	.	263	Q9Y4K0	LOXL2_HUMAN	I	263	ENSP00000373783:M263I	ENSP00000373783:M263I	M	-	3	0	LOXL2	23247036	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	1.655000	0.37345	2.829000	0.97493	0.645000	0.84053	ATG		0.612	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1			24	61	24	61	---	---	---	---
EXTL3	2137	broad.mit.edu	37	8	28575417	28575417	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr8:28575417T>C	ENST00000220562.4	+	3	2743	c.1841T>C	c.(1840-1842)tTc>tCc	p.F614S	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Missense_Mutation_p.F230S	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	614					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|positive regulation of cell growth (GO:0030307)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)	p.F614S(1)		biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		TTCCATCTTTTCCCCCACACT	0.577																																						ENST00000220562.4																			1	Substitution - Missense(1)	p.F614S(1)	prostate(1)	biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36						c.(1840-1842)tTc>tCc		exostosin-like glycosyltransferase 3							100.0	93.0	95.0					8																	28575417		2203	4300	6503	SO:0001583	missense	2137					integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding	g.chr8:28575417T>C	U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2.4.1.223	"""Exostosin glycosyltransferase family"""	3518	protein-coding gene	gene with protein product	"""REG receptor"", ""glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase"""	605744	"""exostoses (multiple)-like 3"""			9479495, 9450183, 11257457	Standard	NM_001440		Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	ENST00000220562.4:c.1841T>C	8.37:g.28575417T>C	ENSP00000220562:p.Phe614Ser		Somatic				EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Missense_Mutation_p.F230S	p.F614S	NM_001440.2	NP_001431.1	WXS	Illumina GAIIx	Phase_I	O43909	EXTL3_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)	3	2743	+		Ovarian(32;0.069)	614					D3DST8|O00225|Q53XT3	Missense_Mutation	SNP	ENST00000220562.4	37	c.1841T>C	CCDS6070.1	.	.	.	.	.	.	.	.	.	.	T	15.13	2.742180	0.49151	.	.	ENSG00000012232	ENST00000523149;ENST00000220562	D;D	0.95342	-3.26;-3.68	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.90686	0.7078	L	0.43152	1.355	0.80722	D	1	B	0.33413	0.411	B	0.22601	0.04	D	0.89002	0.3422	10	0.28530	T	0.3	-26.4569	16.5885	0.84745	0.0:0.0:0.0:1.0	.	614	O43909	EXTL3_HUMAN	S	230;614	ENSP00000428691:F230S;ENSP00000220562:F614S	ENSP00000220562:F614S	F	+	2	0	EXTL3	28631336	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	8.040000	0.89188	2.317000	0.78254	0.460000	0.39030	TTC		0.577	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219987.3	NM_001440		18	192	18	192	---	---	---	---
SETX	23064	broad.mit.edu	37	9	135205329	135205329	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr9:135205329C>A	ENST00000224140.5	-	10	1838	c.1656G>T	c.(1654-1656)caG>caT	p.Q552H	SETX_ENST00000393220.1_Missense_Mutation_p.Q552H|SETX_ENST00000372169.2_Missense_Mutation_p.Q552H	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	552					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TGCAAAGAGACTGCTGCCCAA	0.423																																						ENST00000372169.2																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(1654-1656)caG>caT		senataxin							88.0	93.0	91.0					9																	135205329		2203	4299	6502	SO:0001583	missense	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135205329C>A	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.1656G>T	9.37:g.135205329C>A	ENSP00000224140:p.Gln552His		Somatic				SETX_ENST00000224140.5_Missense_Mutation_p.Q552H|SETX_ENST00000393220.1_Missense_Mutation_p.Q552H	p.Q552H			WXS	Illumina GAIIx	Phase_I	Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	10	1838	-		Myeloproliferative disorder(178;0.204)	552					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	c.1656G>T	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	C	7.314	0.615636	0.14129	.	.	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	T;T;T	0.80909	-1.43;-1.43;-1.43	5.92	-11.8	0.00035	.	0.283408	0.34906	N	0.003600	T	0.52964	0.1767	N	0.19112	0.55	0.19945	N	0.999946	B;B;B	0.12630	0.005;0.006;0.005	B;B;B	0.14578	0.006;0.011;0.01	T	0.33979	-0.9847	10	0.22706	T	0.39	.	7.1099	0.25384	0.1507:0.5166:0.1526:0.1801	.	552;552;552	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	H	552	ENSP00000224140:Q552H;ENSP00000361242:Q552H;ENSP00000376913:Q552H	ENSP00000224140:Q552H	Q	-	3	2	SETX	134195150	0.002000	0.14202	0.000000	0.03702	0.901000	0.52897	-1.831000	0.01698	-2.537000	0.00488	-1.107000	0.02091	CAG		0.423	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		4	203	4	203	---	---	---	---
ANKRD26	22852	broad.mit.edu	37	10	27329050	27329050	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr10:27329050T>C	ENST00000376087.4	-	21	2384	c.2219A>G	c.(2218-2220)gAa>gGa	p.E740G	ANKRD26_ENST00000436985.2_Missense_Mutation_p.E756G|ANKRD26_ENST00000376070.3_Missense_Mutation_p.E297G	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	739					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)		p.E740G(1)		breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TTTTTTAAGTTCTAATAATCT	0.294																																						ENST00000376087.4																			1	Substitution - Missense(1)	p.E740G(1)	prostate(1)	breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						c.(2218-2220)gAa>gGa		ankyrin repeat domain 26							70.0	62.0	64.0					10																	27329050		1796	4066	5862	SO:0001583	missense	22852					centrosome		g.chr10:27329050T>C	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.2219A>G	10.37:g.27329050T>C	ENSP00000365255:p.Glu740Gly		Somatic				ANKRD26_ENST00000436985.2_Missense_Mutation_p.E756G|ANKRD26_ENST00000376070.3_Missense_Mutation_p.E297G	p.E740G	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	WXS	Illumina GAIIx	Phase_I	Q9UPS8	ANR26_HUMAN			21	2384	-			739					A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	ENST00000376087.4	37	c.2219A>G	CCDS41499.1	.	.	.	.	.	.	.	.	.	.	T	17.87	3.495333	0.64186	.	.	ENSG00000107890	ENST00000376070;ENST00000376087;ENST00000436985	T;T;T	0.20738	2.05;2.05;2.05	5.18	4.03	0.46877	.	0.112714	0.37669	N	0.001994	T	0.42899	0.1223	M	0.71036	2.16	0.09310	N	1	D;D;D	0.71674	0.996;0.994;0.998	P;P;D	0.78314	0.872;0.748;0.991	T	0.26573	-1.0099	10	0.87932	D	0	.	10.6425	0.45600	0.0:0.0:0.1615:0.8385	.	740;739;756	Q9UPS8-3;Q9UPS8;A1L497	.;ANR26_HUMAN;.	G	297;740;756	ENSP00000365238:E297G;ENSP00000365255:E740G;ENSP00000405112:E756G	ENSP00000365238:E297G	E	-	2	0	ANKRD26	27369056	1.000000	0.71417	0.025000	0.17156	0.964000	0.63967	4.090000	0.57693	0.884000	0.36064	0.477000	0.44152	GAA		0.294	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			7	102	7	102	---	---	---	---
PRG3	10394	broad.mit.edu	37	11	57147239	57147239	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr11:57147239C>T	ENST00000287143.2	-	3	212	c.103G>A	c.(103-105)Gac>Aac	p.D35N		NM_006093.3	NP_006084.2	Q8TBJ4	LPPR1_HUMAN	proteoglycan 3	0					nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)	p.D35N(1)		large_intestine(3)|lung(5)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	13						TGGCCTAGGTCTGCCTGTGTC	0.557																																					Melanoma(154;1456 2519 19358 45229)	ENST00000287143.2																			1	Substitution - Missense(1)	p.D35N(1)	prostate(1)	large_intestine(3)|lung(5)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	13						c.(103-105)Gac>Aac		proteoglycan 3							79.0	74.0	76.0					11																	57147239		2201	4296	6497	SO:0001583	missense	10394				basophil activation|histamine biosynthetic process|immune response|leukotriene biosynthetic process|negative regulation of translation|neutrophil activation|positive regulation of interleukin-8 biosynthetic process|superoxide anion generation		sugar binding	g.chr11:57147239C>T	AF132209	CCDS7954.1	11q12.1	2008-02-05			ENSG00000156575	ENSG00000156575			9363	protein-coding gene	gene with protein product		606814				10318872, 11170744	Standard	NM_006093		Approved	MBPH	uc001njv.2	Q9Y2Y8	OTTHUMG00000167026	ENST00000287143.2:c.103G>A	11.37:g.57147239C>T	ENSP00000287143:p.Asp35Asn		Somatic					p.D35N	NM_006093.3	NP_006084.2	WXS	Illumina GAIIx	Phase_I	Q9Y2Y8	PRG3_HUMAN			3	212	-			35					Q5VX23|Q9NXE2	Missense_Mutation	SNP	ENST00000287143.2	37	c.103G>A	CCDS7954.1	.	.	.	.	.	.	.	.	.	.	C	11.10	1.539624	0.27563	.	.	ENSG00000156575	ENST00000287143	T	0.05717	3.4	4.81	-0.565	0.11771	.	1.065830	0.07228	N	0.862027	T	0.07007	0.0178	L	0.43152	1.355	0.09310	N	1	P	0.46706	0.883	B	0.44224	0.444	T	0.31280	-0.9949	10	0.49607	T	0.09	-19.5831	3.4064	0.07343	0.3028:0.4375:0.0:0.2597	.	35	Q9Y2Y8	PRG3_HUMAN	N	35	ENSP00000287143:D35N	ENSP00000287143:D35N	D	-	1	0	PRG3	56903815	0.012000	0.17670	0.000000	0.03702	0.014000	0.08584	0.343000	0.19944	-0.166000	0.10890	-0.261000	0.10672	GAC		0.557	PRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392467.1	NM_006093		45	115	45	115	---	---	---	---
SIDT2	51092	broad.mit.edu	37	11	117066583	117066583	+	Silent	SNP	C	C	T			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr11:117066583C>T	ENST00000324225.4	+	25	2919	c.2388C>T	c.(2386-2388)caC>caT	p.H796H	SIDT2_ENST00000532062.1_Silent_p.H88H|SIDT2_ENST00000431081.2_Silent_p.H793H	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	796					cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)	p.H796H(1)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		TTGACGACCACGACATCTGGC	0.602																																						ENST00000324225.4																			1	Substitution - coding silent(1)	p.H796H(1)	prostate(1)	NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36						c.(2386-2388)caC>caT		SID1 transmembrane family, member 2							250.0	236.0	241.0					11																	117066583		2201	4296	6497	SO:0001819	synonymous_variant	51092					integral to membrane|lysosomal membrane		g.chr11:117066583C>T	AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.2388C>T	11.37:g.117066583C>T			Somatic				SIDT2_ENST00000431081.2_Silent_p.H793H|SIDT2_ENST00000532062.1_Silent_p.H88H	p.H796H	NM_001040455.1	NP_001035545.1	WXS	Illumina GAIIx	Phase_I	Q8NBJ9	SIDT2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)	25	2919	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	796					Q8NBY7|Q9Y357	Silent	SNP	ENST00000324225.4	37	c.2388C>T	CCDS31682.1																																																																																				0.602	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392836.1	NM_015996		6	466	6	466	---	---	---	---
LRIG3	121227	broad.mit.edu	37	12	59271482	59271482	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr12:59271482C>A	ENST00000320743.3	-	15	2522	c.2236G>T	c.(2236-2238)Gca>Tca	p.A746S	LRIG3_ENST00000379141.4_Missense_Mutation_p.A686S	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	746	Ig-like C2-type 3.				otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TTGCCTGCTGCAAAAAAGTGC	0.488			T	ROS1	NSCLC																																	ENST00000320743.3				Dom	yes		12	12q14.1	121227	T	leucine-rich repeats and immunoglobulin-like domains 3			E	ROS1		NSCLC	LRIG3/ROS1(2)	0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(2236-2238)Gca>Tca		leucine-rich repeats and immunoglobulin-like domains 3							172.0	162.0	165.0					12																	59271482		2203	4300	6503	SO:0001583	missense	121227					integral to membrane		g.chr12:59271482C>A	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.2236G>T	12.37:g.59271482C>A	ENSP00000326759:p.Ala746Ser		Somatic				LRIG3_ENST00000379141.4_Missense_Mutation_p.A686S	p.A746S	NM_153377.4	NP_700356.2	WXS	Illumina GAIIx	Phase_I	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		15	2522	-			746			Ig-like C2-type 3.		Q6UXL7|Q8NC72	Missense_Mutation	SNP	ENST00000320743.3	37	c.2236G>T	CCDS8960.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.364097	0.82353	.	.	ENSG00000139263	ENST00000379141;ENST00000320743	T;T	0.66099	-0.19;-0.19	5.59	5.59	0.84812	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.36854	N	0.002370	T	0.59891	0.2227	N	0.02916	-0.46	0.80722	D	1	P;D	0.89917	0.562;1.0	P;D	0.87578	0.544;0.998	T	0.65257	-0.6212	9	.	.	.	.	19.961	0.97250	0.0:1.0:0.0:0.0	.	686;746	Q6UXM1-2;Q6UXM1	.;LRIG3_HUMAN	S	686;746	ENSP00000368436:A686S;ENSP00000326759:A746S	.	A	-	1	0	LRIG3	57557749	1.000000	0.71417	0.985000	0.45067	0.638000	0.38207	7.750000	0.85110	2.783000	0.95769	0.655000	0.94253	GCA		0.488	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		4	222	4	222	---	---	---	---
CMA1	1215	broad.mit.edu	37	14	24976626	24976626	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr14:24976626T>C	ENST00000250378.3	-	2	174	c.145A>G	c.(145-147)Aaa>Gaa	p.K49E	CMA1_ENST00000206446.4_Intron|RP11-80A15.1_ENST00000555109.1_Intron	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	49	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|cellular response to glucose stimulus (GO:0071333)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|interleukin-1 beta biosynthetic process (GO:0050720)|midbrain development (GO:0030901)|peptide metabolic process (GO:0006518)|positive regulation of angiogenesis (GO:0045766)|regulation of inflammatory response (GO:0050727)	extracellular region (GO:0005576)|intracellular (GO:0005622)	peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.K49E(1)		kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		CCACAAAATTTTGAGGGACCG	0.502																																						ENST00000250378.3																			1	Substitution - Missense(1)	p.K49E(1)	prostate(1)	kidney(1)|lung(8)|pancreas(1)|prostate(1)	11						c.(145-147)Aaa>Gaa		chymase 1, mast cell							150.0	145.0	146.0					14																	24976626		2203	4300	6503	SO:0001583	missense	1215				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr14:24976626T>C		CCDS9630.1	14q12	2012-08-30			ENSG00000092009	ENSG00000092009	3.4.21.39		2097	protein-coding gene	gene with protein product		118938				8468056	Standard	NM_001836		Approved		uc001wpp.1	P23946	OTTHUMG00000140181	ENST00000250378.3:c.145A>G	14.37:g.24976626T>C	ENSP00000250378:p.Lys49Glu		Somatic				CMA1_ENST00000206446.4_Intron|RP11-80A15.1_ENST00000555109.1_Intron	p.K49E	NM_001836.3	NP_001827.1	WXS	Illumina GAIIx	Phase_I	P23946	CMA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0271)	2	174	-			49			Peptidase S1.		B5BUM8|Q16018|Q3SY36|Q3SY37|Q9UDH5	Missense_Mutation	SNP	ENST00000250378.3	37	c.145A>G	CCDS9630.1	.	.	.	.	.	.	.	.	.	.	T	2.445	-0.327743	0.05314	.	.	ENSG00000092009	ENST00000250378	T	0.58940	0.3	5.01	-10.0	0.00425	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	14.714400	0.00166	N	0.000000	T	0.26521	0.0648	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.16722	0.016	T	0.27191	-1.0081	10	0.07325	T	0.83	.	3.3567	0.07172	0.3879:0.0929:0.0719:0.4473	.	49	P23946	CMA1_HUMAN	E	49	ENSP00000250378:K49E	ENSP00000250378:K49E	K	-	1	0	CMA1	24046466	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-6.554000	0.00061	-3.878000	0.00096	-1.117000	0.02048	AAA		0.502	CMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276535.2			94	274	94	274	---	---	---	---
PTPN21	11099	broad.mit.edu	37	14	88983485	88983485	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr14:88983485C>T	ENST00000556564.1	-	3	585	c.301G>A	c.(301-303)Gtg>Atg	p.V101M	PTPN21_ENST00000554628.1_5'UTR|RP11-507K2.2_ENST00000555444.1_RNA|PTPN21_ENST00000328736.3_Missense_Mutation_p.V101M	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	101	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)	p.V101M(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TAAAACACCACTCCAAAATAG	0.413																																						ENST00000556564.1																			2	Substitution - Missense(2)	p.V101M(2)	prostate(2)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(301-303)Gtg>Atg		protein tyrosine phosphatase, non-receptor type 21							123.0	111.0	115.0					14																	88983485		2203	4300	6503	SO:0001583	missense	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:88983485C>T	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.301G>A	14.37:g.88983485C>T	ENSP00000452414:p.Val101Met		Somatic				PTPN21_ENST00000554628.1_5'UTR|PTPN21_ENST00000328736.3_Missense_Mutation_p.V101M	p.V101M	NM_007039.3	NP_008970.2	WXS	Illumina GAIIx	Phase_I	Q16825	PTN21_HUMAN			3	585	-			101			FERM.			Missense_Mutation	SNP	ENST00000556564.1	37	c.301G>A	CCDS9884.1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.754227	0.69648	.	.	ENSG00000070778	ENST00000328736;ENST00000556564;ENST00000555243	D;D;D	0.84070	-1.8;-1.8;-1.8	5.77	5.77	0.91146	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);FERM conserved site (1);	0.000000	0.64402	D	0.000002	D	0.93446	0.7909	M	0.91972	3.26	0.53005	D	0.999966	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.94062	0.7327	10	0.72032	D	0.01	.	19.9983	0.97395	0.0:1.0:0.0:0.0	.	101;101	G3V3S6;Q16825	.;PTN21_HUMAN	M	101	ENSP00000330276:V101M;ENSP00000452414:V101M;ENSP00000451401:V101M	ENSP00000330276:V101M	V	-	1	0	PTPN21	88053238	1.000000	0.71417	1.000000	0.80357	0.127000	0.20565	7.818000	0.86416	2.724000	0.93272	0.561000	0.74099	GTG		0.413	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			45	117	45	117	---	---	---	---
FBN1	2200	broad.mit.edu	37	15	48788323	48788323	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr15:48788323T>C	ENST00000316623.5	-	20	2848	c.2393A>G	c.(2392-2394)tAc>tGc	p.Y798C		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	798	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.Y798C(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ATCAGGTTTGTAGATAAATCC	0.353																																						ENST00000316623.5																			1	Substitution - Missense(1)	p.Y798C(1)	prostate(1)	NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.(2392-2394)tAc>tGc		fibrillin 1							127.0	132.0	130.0					15																	48788323		2197	4296	6493	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48788323T>C	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.2393A>G	15.37:g.48788323T>C	ENSP00000325527:p.Tyr798Cys		Somatic					p.Y798C	NM_000138.4	NP_000129	WXS	Illumina GAIIx	Phase_I	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	20	2848	-		all_lung(180;0.00279)	798			EGF-like 12; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.2393A>G	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	T	19.71	3.878769	0.72294	.	.	ENSG00000166147	ENST00000316623	D	0.91996	-2.95	6.06	6.06	0.98353	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.055891	0.85682	D	0.000000	D	0.94951	0.8367	M	0.76574	2.34	0.80722	D	1	D	0.63046	0.992	P	0.60345	0.873	D	0.94383	0.7606	10	0.41790	T	0.15	.	15.4485	0.75253	0.0:0.0:0.0:1.0	.	798	P35555	FBN1_HUMAN	C	798	ENSP00000325527:Y798C	ENSP00000325527:Y798C	Y	-	2	0	FBN1	46575615	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	3.266000	0.51569	2.323000	0.78572	0.528000	0.53228	TAC		0.353	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			41	110	41	110	---	---	---	---
PDE8A	5151	broad.mit.edu	37	15	85669469	85669469	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr15:85669469C>A	ENST00000310298.4	+	21	2369	c.2117C>A	c.(2116-2118)aCt>aAt	p.T706N	PDE8A_ENST00000394553.1_Missense_Mutation_p.T706N|PDE8A_ENST00000339708.5_Missense_Mutation_p.T660N|PDE8A_ENST00000557957.1_Missense_Mutation_p.T634N			O60658	PDE8A_HUMAN	phosphodiesterase 8A	706	Catalytic. {ECO:0000250}.				cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|phosphorelay signal transduction system (GO:0000160)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.T706N(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)		Caffeine(DB00201)|Ketotifen(DB00920)	GTGATAAACACTATGCTTAGG	0.458																																						ENST00000310298.4																			1	Substitution - Missense(1)	p.T706N(1)	prostate(1)	NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25						c.(2116-2118)aCt>aAt		phosphodiesterase 8A							97.0	91.0	93.0					15																	85669469		2203	4299	6502	SO:0001583	missense	5151				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr15:85669469C>A	AF056490	CCDS10336.1, CCDS10337.1, CCDS58397.1	15q25.3	2008-05-14			ENSG00000073417	ENSG00000073417	3.1.4.17	"""Phosphodiesterases"""	8793	protein-coding gene	gene with protein product		602972				9618252	Standard	NM_001243137		Approved	HsT19550	uc002blh.3	O60658	OTTHUMG00000148670	ENST00000310298.4:c.2117C>A	15.37:g.85669469C>A	ENSP00000311453:p.Thr706Asn		Somatic				PDE8A_ENST00000557957.1_Missense_Mutation_p.T634N|PDE8A_ENST00000339708.5_Missense_Mutation_p.T660N|PDE8A_ENST00000394553.1_Missense_Mutation_p.T706N	p.T706N			WXS	Illumina GAIIx	Phase_I	O60658	PDE8A_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0608)		21	2369	+	Colorectal(223;0.227)		706			Catalytic (By similarity).		B3KXE6|H0YMZ7|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	Missense_Mutation	SNP	ENST00000310298.4	37	c.2117C>A	CCDS10336.1	.	.	.	.	.	.	.	.	.	.	C	12.26	1.885941	0.33348	.	.	ENSG00000073417	ENST00000310298;ENST00000394553;ENST00000339708	T;T;T	0.70869	-0.52;-0.52;-0.41	5.27	3.31	0.37934	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.479967	0.20511	N	0.090896	T	0.43456	0.1248	N	0.05177	-0.1	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.19778	-1.0295	10	0.15066	T	0.55	.	7.5755	0.27933	0.3108:0.5202:0.169:0.0	.	660;706	O60658-2;O60658	.;PDE8A_HUMAN	N	706;706;660	ENSP00000311453:T706N;ENSP00000378056:T706N;ENSP00000340679:T660N	ENSP00000311453:T706N	T	+	2	0	PDE8A	83470473	0.334000	0.24739	0.012000	0.15200	0.625000	0.37756	1.105000	0.31086	1.461000	0.47929	-0.164000	0.13417	ACT		0.458	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309018.1	NM_002605		3	135	3	135	---	---	---	---
DNM1P46	196968	broad.mit.edu	37	15	100332853	100332853	+	RNA	SNP	T	T	G			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr15:100332853T>G	ENST00000341853.1	-	0	1338				RN7SL484P_ENST00000462651.2_RNA|AC090825.1_ENST00000408584.1_RNA	NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)	p.T127T(1)									TCCCGGCCACTGCCCTGAAGC	0.607																																						ENST00000341853.1																			1	Substitution - coding silent(1)	p.T127T(1)	prostate(1)																	77.0	81.0	80.0					15																	100332853		876	1991	2867			196968							g.chr15:100332853T>G	AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100332853T>G			Somatic						NR_003260.1		WXS	Illumina GAIIx	Phase_I					0	1338	-								Q3ZCN3	RNA	SNP	ENST00000341853.1	37																																																																																						0.607	DNM1P46-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000313543.1	NR_003260		6	100	6	100	---	---	---	---
ZNF423	23090	broad.mit.edu	37	16	49672120	49672120	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr16:49672120G>T	ENST00000561648.1	-	4	996	c.943C>A	c.(943-945)Cac>Aac	p.H315N	ZNF423_ENST00000563137.2_Missense_Mutation_p.H255N|ZNF423_ENST00000562520.1_Missense_Mutation_p.H255N|ZNF423_ENST00000262383.2_Missense_Mutation_p.H315N|ZNF423_ENST00000535559.1_Missense_Mutation_p.H198N|ZNF423_ENST00000567169.1_Missense_Mutation_p.H198N|ZNF423_ENST00000562871.1_Missense_Mutation_p.H255N	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	315					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H315N(3)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TGGGCTTGGTGGATATGGGCG	0.622																																						ENST00000561648.1																			3	Substitution - Missense(3)	p.H315N(3)	prostate(3)	breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89						c.(943-945)Cac>Aac		zinc finger protein 423							123.0	87.0	99.0					16																	49672120		2198	4300	6498	SO:0001583	missense	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49672120G>T	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.943C>A	16.37:g.49672120G>T	ENSP00000455426:p.His315Asn		Somatic				ZNF423_ENST00000567169.1_Missense_Mutation_p.H198N|ZNF423_ENST00000562871.1_Missense_Mutation_p.H255N|ZNF423_ENST00000535559.1_Missense_Mutation_p.H198N|ZNF423_ENST00000262383.2_Missense_Mutation_p.H315N|ZNF423_ENST00000562520.1_Missense_Mutation_p.H255N|ZNF423_ENST00000563137.2_Missense_Mutation_p.H255N	p.H315N	NM_001271620.1	NP_001258549.1	WXS	Illumina GAIIx	Phase_I	Q2M1K9	ZN423_HUMAN			4	996	-		all_cancers(37;0.0155)	315					O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	c.943C>A	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.312100	0.23821	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.27557	1.66;1.66	5.0	5.0	0.66597	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.102460	0.64402	D	0.000004	T	0.15522	0.0374	N	0.04746	-0.17	0.33667	D	0.610497	B	0.17268	0.021	B	0.15052	0.012	T	0.16335	-1.0406	9	.	.	.	.	13.9801	0.64299	0.0:0.1515:0.8485:0.0	.	315	Q2M1K9	ZN423_HUMAN	N	315;198	ENSP00000262383:H315N;ENSP00000442321:H198N	.	H	-	1	0	ZNF423	48229621	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.877000	0.63086	2.331000	0.79229	0.561000	0.74099	CAC		0.622	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		4	112	4	112	---	---	---	---
SMG6	23293	broad.mit.edu	37	17	2076132	2076132	+	Silent	SNP	C	C	T			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr17:2076132C>T	ENST00000263073.6	-	13	3227	c.3177G>A	c.(3175-3177)tcG>tcA	p.S1059S	SMG6_ENST00000354901.4_Silent_p.S151S|SMG6_ENST00000544865.1_Silent_p.S1028S|SMG6_ENST00000536871.2_Silent_p.S151S	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	1059					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)	p.S1059S(2)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CAGCCAGCGTCGACCATACAT	0.453																																					Melanoma(59;28 1088 11621 25887 46638 50814)	ENST00000544865.1																			2	Substitution - coding silent(2)	p.S1059S(2)	prostate(2)	NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(3082-3084)tcG>tcA		SMG6 nonsense mediated mRNA decay factor							93.0	77.0	83.0					17																	2076132		2203	4300	6503	SO:0001819	synonymous_variant	23293				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding	g.chr17:2076132C>T	AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.3177G>A	17.37:g.2076132C>T			Somatic				SMG6_ENST00000354901.4_Silent_p.S151S|SMG6_ENST00000263073.6_Silent_p.S1059S|SMG6_ENST00000536871.2_Silent_p.S151S	p.S1028S			WXS	Illumina GAIIx	Phase_I	Q86US8	EST1A_HUMAN			13	3594	-			1059					B7Z874|O94837|Q86VH6|Q9UF60	Silent	SNP	ENST00000263073.6	37	c.3084G>A	CCDS11016.1																																																																																				0.453	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3			13	61	13	61	---	---	---	---
GSDMB	55876	broad.mit.edu	37	17	38062140	38062140	+	Silent	SNP	C	C	T	rs144949338		TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr17:38062140C>T	ENST00000394179.1	-	8	1102	c.972G>A	c.(970-972)gcG>gcA	p.A324A	GSDMB_ENST00000394175.2_Silent_p.A307A|GSDMB_ENST00000360317.3_Silent_p.A329A|GSDMB_ENST00000309481.7_Silent_p.A316A|GSDMB_ENST00000520542.1_Silent_p.A320A|GSDMB_ENST00000418519.1_Silent_p.A329A			Q8TAX9	GSDMB_HUMAN	gasdermin B	324						cytoplasm (GO:0005737)		p.A307A(1)|p.A329A(1)		breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						CTTTTGCACGCGCTTCTACCA	0.567																																						ENST00000394175.2																			2	Substitution - coding silent(2)	p.A307A(1)|p.A329A(1)	prostate(2)	breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						c.(919-921)gcG>gcA		gasdermin B		C	,,,	2,4404	4.2+/-10.8	0,2,2201	115.0	117.0	117.0		948,987,960,921	-8.6	0.0	17	dbSNP_134	117	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	GSDMB	NM_001042471.1,NM_001165958.1,NM_001165959.1,NM_018530.2	,,,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,,,	316/404,329/417,320/408,307/395	38062140	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	55876					cytoplasm		g.chr17:38062140C>T	AF119884	CCDS11354.1, CCDS42313.1, CCDS54119.1, CCDS54120.1	17q21.2	2008-07-31	2008-07-31	2008-07-31	ENSG00000073605	ENSG00000073605			23690	protein-coding gene	gene with protein product		611221	"""gasdermin-like"""	GSDML		12883658, 15010812, 17350798	Standard	NM_001042471		Approved	PRO2521	uc010cwj.3	Q8TAX9	OTTHUMG00000133248	ENST00000394179.1:c.972G>A	17.37:g.38062140C>T			Somatic				GSDMB_ENST00000360317.3_Silent_p.A329A|GSDMB_ENST00000394179.1_Silent_p.A324A|GSDMB_ENST00000520542.1_Silent_p.A320A|GSDMB_ENST00000309481.7_Silent_p.A316A|GSDMB_ENST00000418519.1_Silent_p.A329A	p.A307A	NM_018530.2	NP_061000.2	WXS	Illumina GAIIx	Phase_I	Q8TAX9	GSDMB_HUMAN			6	1144	-			324					B4DKK7|Q7Z377|Q8WY76|Q9NX71|Q9P163	Silent	SNP	ENST00000394179.1	37	c.921G>A		.	.	.	.	.	.	.	.	.	.	C	3.197	-0.164607	0.06502	4.54E-4	0.0	ENSG00000073605	ENST00000420491	.	.	.	4.3	-8.59	0.00893	.	.	.	.	.	T	0.30324	0.0761	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.34900	-0.9810	4	.	.	.	.	12.0183	0.53329	0.0:0.1285:0.1054:0.7661	.	.	.	.	H	261	.	.	R	-	2	0	GSDMB	35315666	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.334000	0.00508	-2.418000	0.00566	-2.080000	0.00379	CGC		0.567	GSDMB-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_018530		80	191	80	191	---	---	---	---
ZNF521	25925	broad.mit.edu	37	18	22804629	22804629	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr18:22804629T>C	ENST00000361524.3	-	4	3401	c.3253A>G	c.(3253-3255)Atc>Gtc	p.I1085V	ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Missense_Mutation_p.I865V|ZNF521_ENST00000538137.2_Missense_Mutation_p.I1085V	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1085					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.I1085V(2)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AGGCCATTGATATCAAGTTTC	0.532			T	PAX5	ALL																																	ENST00000361524.3				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		2	Substitution - Missense(2)	p.I1085V(2)	prostate(2)	NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149						c.(3253-3255)Atc>Gtc		zinc finger protein 521							75.0	69.0	71.0					18																	22804629		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22804629T>C	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.3253A>G	18.37:g.22804629T>C	ENSP00000354794:p.Ile1085Val		Somatic				ZNF521_ENST00000538137.2_Missense_Mutation_p.I1085V|ZNF521_ENST00000584787.1_Missense_Mutation_p.I865V	p.I1085V	NM_015461.2	NP_056276.1	WXS	Illumina GAIIx	Phase_I	Q96K83	ZN521_HUMAN			4	3401	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		1085					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.3253A>G	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	T	9.842	1.191306	0.21954	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.07688	3.17;3.2	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.04318	0.0119	N	0.04203	-0.255	0.34452	D	0.700829	B	0.16166	0.016	B	0.14023	0.01	T	0.36040	-0.9764	10	0.30854	T	0.27	-35.3969	10.5804	0.45252	0.0:0.0715:0.0:0.9285	.	1085	Q96K83	ZN521_HUMAN	V	1085;1119;1085	ENSP00000354794:I1085V;ENSP00000382352:I1085V	ENSP00000354794:I1085V	I	-	1	0	ZNF521	21058627	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.839000	0.62810	2.241000	0.73720	0.528000	0.53228	ATC		0.532	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		7	120	7	120	---	---	---	---
MLLT1	4298	broad.mit.edu	37	19	6216424	6216424	+	Silent	SNP	C	C	T			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr19:6216424C>T	ENST00000252674.7	-	8	1462	c.1299G>A	c.(1297-1299)agG>agA	p.R433R	MLLT1_ENST00000585588.1_5'UTR	NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	433					negative regulation of protein kinase activity (GO:0006469)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)	p.R433R(1)		endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						ACCTGGAGTCCCTCCCCGGGT	0.711			T	MLL	AL																																	ENST00000252674.7				Dom	yes		19	19p13.3	4298	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)"""			L	MLL		AL		1	Substitution - coding silent(1)	p.R433R(1)	prostate(1)	endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						c.(1297-1299)agG>agA		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1							16.0	15.0	16.0					19																	6216424		2198	4294	6492	SO:0001819	synonymous_variant	4298				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding	g.chr19:6216424C>T		CCDS12160.1	19p13.3	2012-10-04	2001-11-28		ENSG00000130382	ENSG00000130382			7134	protein-coding gene	gene with protein product		159556	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 1"""				Standard	XM_005259561		Approved	ENL, LTG19, YEATS1	uc002mek.3	Q03111	OTTHUMG00000180757	ENST00000252674.7:c.1299G>A	19.37:g.6216424C>T			Somatic				MLLT1_ENST00000585588.1_5'UTR	p.R433R	NM_005934.3	NP_005925.2	WXS	Illumina GAIIx	Phase_I	Q03111	ENL_HUMAN			8	1462	-			433					Q14768	Silent	SNP	ENST00000252674.7	37	c.1299G>A	CCDS12160.1																																																																																				0.711	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452909.1	NM_005934		3	15	3	15	---	---	---	---
OR10H2	26538	broad.mit.edu	37	19	15839017	15839017	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr19:15839017T>C	ENST00000305899.3	+	1	184	c.164T>C	c.(163-165)cTc>cCc	p.L55P		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	55						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					GAGCGCAGCCTCCACACGCCC	0.612																																						ENST00000305899.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27						c.(163-165)cTc>cCc		olfactory receptor, family 10, subfamily H, member 2							203.0	165.0	178.0					19																	15839017		2203	4300	6503	SO:0001583	missense	26538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15839017T>C	AC004597	CCDS12333.1	19p13.1	2012-08-09				ENSG00000171942		"""GPCR / Class A : Olfactory receptors"""	8173	protein-coding gene	gene with protein product							Standard	NM_013939		Approved		uc002nbm.2	O60403		ENST00000305899.3:c.164T>C	19.37:g.15839017T>C	ENSP00000306095:p.Leu55Pro		Somatic					p.L55P	NM_013939.2	NP_039227.1	WXS	Illumina GAIIx	Phase_I	O60403	O10H2_HUMAN			1	184	+	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)		55					Q6IFQ1|Q96R58	Missense_Mutation	SNP	ENST00000305899.3	37	c.164T>C	CCDS12333.1	.	.	.	.	.	.	.	.	.	.	.	16.13	3.035306	0.54896	.	.	ENSG00000171942	ENST00000305899	T	0.14893	2.47	2.88	2.88	0.33553	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41097	D	0.000955	T	0.56659	0.2000	H	0.99325	4.515	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.68232	-0.5463	10	0.87932	D	0	.	8.94	0.35725	0.0:0.0:0.0:1.0	.	55	O60403	O10H2_HUMAN	P	55	ENSP00000306095:L55P	ENSP00000306095:L55P	L	+	2	0	OR10H2	15700017	1.000000	0.71417	0.993000	0.49108	0.949000	0.60115	6.809000	0.75211	1.186000	0.42985	0.438000	0.28831	CTC		0.612	OR10H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460917.1			4	196	4	196	---	---	---	---
CTC-260E6.6	0	broad.mit.edu	37	19	20369868	20369868	+	RNA	SNP	G	G	C			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr19:20369868G>C	ENST00000593655.1	-	0	199																											TGTTGAAGGAGTTGGTGTTGC	0.408																																						ENST00000593655.1																			0																																																			0							g.chr19:20369868G>C																													19.37:g.20369868G>C			Somatic								WXS	Illumina GAIIx	Phase_I					0	199	-									RNA	SNP	ENST00000593655.1	37																																																																																						0.408	CTC-260E6.6-006	KNOWN	basic	antisense	antisense	OTTHUMT00000462901.1			6	93	6	93	---	---	---	---
KCNK6	9424	broad.mit.edu	37	19	38810914	38810914	+	Splice_Site	SNP	T	T	C			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr19:38810914T>C	ENST00000263372.3	+	1	429		c.e1+2		KCNK6_ENST00000588137.1_Splice_Site	NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6						negative regulation of systemic arterial blood pressure (GO:0003085)|potassium ion transport (GO:0006813)|regulation of resting membrane potential (GO:0060075)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)	p.?(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	CCACCGTGGGTACGTAAGCGC	0.647																																						ENST00000263372.3																			1	Unknown(1)	p.?(1)	prostate(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17						c.e1+2		potassium channel, subfamily K, member 6	Ibutilide(DB00308)|Quinidine(DB00908)						22.0	24.0	23.0					19																	38810914		2199	4294	6493	SO:0001630	splice_region_variant	9424					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr19:38810914T>C	AF117708	CCDS12513.1	19q13.1	2012-03-07				ENSG00000099337		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6281	protein-coding gene	gene with protein product		603939				10075682, 10393428, 16382106	Standard	NM_004823		Approved	K2p6.1, TWIK-2	uc002oic.3	Q9Y257		ENST00000263372.3:c.322+2T>C	19.37:g.38810914T>C			Somatic				KCNK6_ENST00000588137.1_Splice_Site		NM_004823.1	NP_004814.1	WXS	Illumina GAIIx	Phase_I	Q9Y257	KCNK6_HUMAN	Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		1	429	+	all_cancers(60;5.83e-07)							Q9HB47	Splice_Site	SNP	ENST00000263372.3	37		CCDS12513.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.171354	0.78452	.	.	ENSG00000099337	ENST00000263372	.	.	.	4.57	4.57	0.56435	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9676	0.53044	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	KCNK6	43502754	1.000000	0.71417	0.986000	0.45419	0.882000	0.50991	7.285000	0.78660	1.938000	0.56188	0.454000	0.30748	.		0.647	KCNK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460524.1	NM_004823	Intron	3	50	3	50	---	---	---	---
GRIK5	2901	broad.mit.edu	37	19	42569514	42569514	+	Silent	SNP	C	C	T			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr19:42569514C>T	ENST00000262895.3	-	2	104	c.105G>A	c.(103-105)gtG>gtA	p.V35V	GRIK5_ENST00000301218.4_Silent_p.V35V|GRIK5_ENST00000593562.1_Silent_p.V35V	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	35					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.V35V(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				CGCGGCCACACACTGTCTGAT	0.607																																						ENST00000262895.3																			2	Substitution - coding silent(2)	p.V35V(2)	prostate(2)	breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35						c.(103-105)gtG>gtA		glutamate receptor, ionotropic, kainate 5	L-Glutamic Acid(DB00142)						53.0	50.0	51.0					19																	42569514		2203	4300	6503	SO:0001819	synonymous_variant	2901					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr19:42569514C>T		CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.105G>A	19.37:g.42569514C>T			Somatic				GRIK5_ENST00000301218.4_Silent_p.V35V|GRIK5_ENST00000593562.1_Silent_p.V35V	p.V35V	NM_002088.4	NP_002079.3	WXS	Illumina GAIIx	Phase_I	Q16478	GRIK5_HUMAN			2	104	-		Prostate(69;0.059)	35					Q8WWG8	Silent	SNP	ENST00000262895.3	37	c.105G>A	CCDS12595.1																																																																																				0.607	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463453.1			4	84	4	84	---	---	---	---
SH3BP1	23616	broad.mit.edu	37	22	38039665	38039665	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr22:38039665C>A	ENST00000357436.4	+	7	801	c.488C>A	c.(487-489)aCc>aAc	p.T163N	SH3BP1_ENST00000442465.2_Missense_Mutation_p.T163N|SH3BP1_ENST00000336738.5_Missense_Mutation_p.T163N|Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000599616.1_Missense_Mutation_p.T99N|SH3BP1_ENST00000495174.1_3'UTR	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	163	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)	p.T163N(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					AGTCAGGCAACCAAGAATTCA	0.587											OREG0026546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000599616.1																			1	Substitution - Missense(1)	p.T163N(1)	prostate(1)	breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(295-297)aCc>aAc		SH3-domain binding protein 1							141.0	104.0	117.0					22																	38039665		2203	4300	6503	SO:0001583	missense	23616				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding	g.chr22:38039665C>A		CCDS13952.2	22q13.1	2011-07-04			ENSG00000100092	ENSG00000100092		"""Rho GTPase activating proteins"""	10824	protein-coding gene	gene with protein product						10591208, 12029088	Standard	NM_018957		Approved	ARHGAP43	uc003ati.3	Q9Y3L3	OTTHUMG00000030996	ENST00000357436.4:c.488C>A	22.37:g.38039665C>A	ENSP00000350018:p.Thr163Asn		Somatic	OREG0026546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	875	SH3BP1_ENST00000336738.5_Missense_Mutation_p.T163N|Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000357436.4_Missense_Mutation_p.T163N|SH3BP1_ENST00000495174.1_3'UTR|SH3BP1_ENST00000442465.2_Missense_Mutation_p.T163N	p.T99N			WXS	Illumina GAIIx	Phase_I	Q9Y3L3	3BP1_HUMAN			5	296	+	Melanoma(58;0.0574)		163			BAR.		Q5R3N0|Q6IBZ2|Q6ZVL9|Q96HQ5|Q9NSQ9	Missense_Mutation	SNP	ENST00000357436.4	37	c.296C>A	CCDS13952.2	.	.	.	.	.	.	.	.	.	.	C	15.30	2.792833	0.50102	.	.	ENSG00000100092	ENST00000357436;ENST00000336738;ENST00000442465;ENST00000397014	T;T;T	0.62788	-0.0;-0.0;-0.0	5.2	4.17	0.49024	BAR (2);	0.506534	0.19504	N	0.112669	T	0.44932	0.1317	L	0.32530	0.975	0.29387	N	0.862887	B;P;B;B;P	0.36392	0.162;0.551;0.144;0.302;0.551	B;B;B;B;B	0.34489	0.133;0.184;0.074;0.158;0.129	T	0.34950	-0.9808	10	0.16420	T	0.52	.	8.0468	0.30553	0.1577:0.7617:0.0:0.0805	.	163;77;99;163;77	F5GZA8;E7EUD3;Q6ZT62;Q9Y3L3;Q6ZTJ5	.;.;.;3BP1_HUMAN;.	N	163;163;163;77	ENSP00000350018:T163N;ENSP00000337213:T163N;ENSP00000395126:T163N	ENSP00000337213:T163N	T	+	2	0	SH3BP1	36369611	1.000000	0.71417	0.997000	0.53966	0.892000	0.51952	1.566000	0.36396	1.333000	0.45449	0.561000	0.74099	ACC		0.587	SH3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075884.4	NM_018957		4	78	4	78	---	---	---	---
ZNF292	23036	broad.mit.edu	37	6	87965133	87965137	+	Frame_Shift_Del	DEL	AGTAA	AGTAA	-			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr6:87965133_87965137delAGTAA	ENST00000369577.3	+	8	1829_1833	c.1786_1790delAGTAA	c.(1786-1791)agtaaafs	p.SK596fs	ZNF292_ENST00000339907.4_Frame_Shift_Del_p.SK591fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	596						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TAAACAATCTAGTAAAGAGAGACTA	0.361																																						ENST00000369577.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(1786-1791)agtaaafs		zinc finger protein 292																																				SO:0001589	frameshift_variant	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87965133_87965137delAGTAA	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.1786_1790delAGTAA	6.37:g.87965133_87965137delAGTAA	ENSP00000358590:p.Ser596fs		Somatic				ZNF292_ENST00000339907.4_Frame_Shift_Del_p.SK591fs	p.SK596fs	NM_015021.1	NP_055836.1	WXS	Illumina GAIIx	Phase_I	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	1829_1833	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	596					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Frame_Shift_Del	DEL	ENST00000369577.3	37	c.1786_1790delAGTAA	CCDS47457.1																																																																																				0.361	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		10	76	10	76	---	---	---	---
