#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SGCZ	137868	broad.mit.edu	37	8	14181681	14181681	+	Silent	SNP	C	C	T			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr8:14181681C>T	ENST00000382080.1	-	3	982	c.267G>A	c.(265-267)aaG>aaA	p.K89K	SGCZ_ENST00000421524.2_Intron	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	76					membrane organization (GO:0061024)|muscle cell cellular homeostasis (GO:0046716)|muscle cell development (GO:0055001)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|sarcoglycan complex (GO:0016012)				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		GTCGGATTCCCTTCTTGGTGA	0.358																																						ENST00000382080.1																			0				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47						c.(265-267)aaG>aaA		sarcoglycan, zeta							120.0	114.0	116.0					8																	14181681		2203	4300	6503	SO:0001819	synonymous_variant	137868				cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma		g.chr8:14181681C>T	AY028700	CCDS5992.2	8p22	2014-09-17	2010-04-21		ENSG00000185053	ENSG00000185053			14075	protein-coding gene	gene with protein product		608113				12189167	Standard	XM_006716287		Approved	ZSG1	uc003wwq.3	Q96LD1	OTTHUMG00000090827	ENST00000382080.1:c.267G>A	8.37:g.14181681C>T						SGCZ_ENST00000421524.2_Intron	p.K89K	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN		all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)	3	982	-			76					Q6REU0	Silent	SNP	ENST00000382080.1	37	c.267G>A	CCDS5992.2																																																																																				0.358	SGCZ-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207636.2	NM_139167		14	22	0	0	0	1	0	14	22				
RPP40	10799	broad.mit.edu	37	6	5002336	5002336	+	Splice_Site	SNP	T	T	A			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr6:5002336T>A	ENST00000380051.2	-	2	311	c.267A>T	c.(265-267)aaA>aaT	p.K89N	RPP40_ENST00000464646.1_Splice_Site_p.K29N|RPP40_ENST00000319533.5_Splice_Site_p.K89N	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN	ribonuclease P/MRP 40kDa subunit	89					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	ribonuclease P activity (GO:0004526)			NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				TTTTCTTACCTTTCTTTATAA	0.408																																						ENST00000380051.2																			0				NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14						c.e2+1		ribonuclease P/MRP 40kDa subunit							146.0	154.0	151.0					6																	5002336		2203	4300	6503	SO:0001630	splice_region_variant	10799				tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity	g.chr6:5002336T>A	U94317	CCDS34333.1, CCDS69040.1, CCDS75391.1	6p25.1	2012-05-21	2007-06-26	2004-03-19	ENSG00000124787	ENSG00000124787			20992	protein-coding gene	gene with protein product		606117	"""ribonuclease P1"", ""ribonuclease P 40kDa subunit"""	RNASEP1		9630247	Standard	NM_006638		Approved	bA428J1.3	uc003mwl.3	O75818	OTTHUMG00000014168	ENST00000380051.2:c.268+1A>T	6.37:g.5002336T>A						RPP40_ENST00000319533.5_Splice_Site_p.K89_splice|RPP40_ENST00000464646.1_Splice_Site_p.K29_splice	p.K89_splice	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN			2	311	-	Ovarian(93;0.11)	all_hematologic(90;0.0895)	89					Q5VX97|Q8WVK8	Splice_Site	SNP	ENST00000380051.2	37	c.268_splice	CCDS34333.1	.	.	.	.	.	.	.	.	.	.	T	11.49	1.655350	0.29425	.	.	ENSG00000124787	ENST00000380051;ENST00000319533;ENST00000464646	T;T;T	0.46451	0.87;0.98;0.87	5.35	5.35	0.76521	.	0.175442	0.52532	D	0.000075	T	0.43897	0.1268	L	0.59912	1.85	0.50632	D	0.999881	D;B	0.67145	0.996;0.313	P;B	0.61533	0.89;0.104	T	0.32079	-0.9920	10	0.25106	T	0.35	-4.2721	13.1045	0.59239	0.0:0.0:0.0:1.0	.	89;89	O75818-2;O75818	.;RPP40_HUMAN	N	89;89;29	ENSP00000369391:K89N;ENSP00000317998:K89N;ENSP00000419431:K29N	ENSP00000317998:K89N	K	-	3	2	RPP40	4947335	1.000000	0.71417	1.000000	0.80357	0.184000	0.23303	5.677000	0.68142	2.026000	0.59711	0.533000	0.62120	AAA		0.408	RPP40-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039733.2	NM_006638	Missense_Mutation	10	143	0	0	0	1	0	10	143				
NPAT	4863	broad.mit.edu	37	11	108043104	108043104	+	Silent	SNP	A	A	G			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr11:108043104A>G	ENST00000278612.8	-	13	2712	c.2607T>C	c.(2605-2607)gcT>gcC	p.A869A	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	869					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TCACACAGGTAGCTATCAGAA	0.433																																						ENST00000278612.8																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46						c.(2605-2607)gcT>gcC		nuclear protein, ataxia-telangiectasia locus							166.0	150.0	155.0					11																	108043104		1933	4136	6069	SO:0001819	synonymous_variant	4863				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr11:108043104A>G	X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.2607T>C	11.37:g.108043104A>G							p.A869A	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)	13	2712	-		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	869					A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Silent	SNP	ENST00000278612.8	37	c.2607T>C	CCDS41710.1																																																																																				0.433	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	NM_002519		4	108	0	0	0	1	0	4	108				
TPO	7173	broad.mit.edu	37	2	1437212	1437212	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr2:1437212A>G	ENST00000345913.4	+	4	273	c.182A>G	c.(181-183)aAc>aGc	p.N61S	TPO_ENST00000337415.3_Missense_Mutation_p.N61S|TPO_ENST00000539820.1_Missense_Mutation_p.N61S|TPO_ENST00000346956.3_Missense_Mutation_p.N61S|TPO_ENST00000382201.3_Missense_Mutation_p.N61S|TPO_ENST00000349624.3_Missense_Mutation_p.N61S|TPO_ENST00000382198.1_Missense_Mutation_p.N61S|TPO_ENST00000329066.4_Missense_Mutation_p.N61S|TPO_ENST00000497517.2_Intron|TPO_ENST00000382269.3_Missense_Mutation_p.N61S	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	61					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TGCCATAGAAACCTCAAGAAA	0.363																																						ENST00000345913.4																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(181-183)aAc>aGc		thyroid peroxidase	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						79.0	80.0	79.0					2																	1437212		2203	4300	6503	SO:0001583	missense	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1437212A>G		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.182A>G	2.37:g.1437212A>G	ENSP00000318820:p.Asn61Ser					TPO_ENST00000382198.1_Missense_Mutation_p.N61S|TPO_ENST00000337415.3_Missense_Mutation_p.N61S|TPO_ENST00000497517.2_Intron|TPO_ENST00000329066.4_Missense_Mutation_p.N61S|TPO_ENST00000349624.3_Missense_Mutation_p.N61S|TPO_ENST00000539820.1_Missense_Mutation_p.N61S|TPO_ENST00000382269.3_Missense_Mutation_p.N61S|TPO_ENST00000382201.3_Missense_Mutation_p.N61S|TPO_ENST00000346956.3_Missense_Mutation_p.N61S	p.N61S	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	4	273	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	61					P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	c.182A>G	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	A	0.019	-1.461023	0.01062	.	.	ENSG00000115705	ENST00000382269;ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000539820;ENST00000329066;ENST00000382201;ENST00000423320;ENST00000382198	T;T;T;T;T;T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38	4.26	4.26	0.50523	.	0.270486	0.37095	N	0.002246	T	0.41419	0.1158	L	0.33137	0.985	0.26033	N	0.981719	B;D;P;B;B	0.56035	0.138;0.974;0.454;0.112;0.085	B;P;B;B;B	0.45428	0.04;0.48;0.11;0.029;0.013	T	0.23048	-1.0199	10	0.20046	T	0.44	-35.9848	10.0732	0.42345	1.0:0.0:0.0:0.0	.	61;61;61;61;61	P07202-4;P07202-5;E9PFM6;P07202-2;P07202	.;.;.;.;PERT_HUMAN	S	61	ENSP00000371704:N61S;ENSP00000337263:N61S;ENSP00000318820:N61S;ENSP00000263886:N61S;ENSP00000332044:N61S;ENSP00000444840:N61S;ENSP00000329869:N61S;ENSP00000371636:N61S;ENSP00000390994:N61S;ENSP00000371633:N61S	ENSP00000329869:N61S	N	+	2	0	TPO	1416219	1.000000	0.71417	0.961000	0.40146	0.140000	0.21249	2.152000	0.42272	1.688000	0.51068	0.460000	0.39030	AAC		0.363	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		3	75	0	0	0	1	0	3	75				
OR10J5	127385	broad.mit.edu	37	1	159505472	159505472	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr1:159505472G>C	ENST00000334857.2	-	1	370	c.326C>G	c.(325-327)aCt>aGt	p.T109S		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	109						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					GCAATTATTAGTGGCCAAGAT	0.458																																						ENST00000334857.2																			0				kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(325-327)aCt>aGt		olfactory receptor, family 10, subfamily J, member 5							120.0	105.0	110.0					1																	159505472		2203	4300	6503	SO:0001583	missense	127385				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:159505472G>C		CCDS30910.1	1q23.2	2012-08-09			ENSG00000184155	ENSG00000184155		"""GPCR / Class A : Olfactory receptors"""	14993	protein-coding gene	gene with protein product							Standard	NM_001004469		Approved		uc010piw.2	Q8NHC4	OTTHUMG00000022738	ENST00000334857.2:c.326C>G	1.37:g.159505472G>C	ENSP00000334441:p.Thr109Ser						p.T109S	NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN			1	370	-	all_hematologic(112;0.0429)		109					B9EH35|Q6IFH2	Missense_Mutation	SNP	ENST00000334857.2	37	c.326C>G	CCDS30910.1	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.511982	0.00984	.	.	ENSG00000184155	ENST00000334857	T	0.02140	4.43	4.32	-4.99	0.03010	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00496	0.0016	N	0.16016	0.355	0.09310	N	1	B	0.22909	0.077	B	0.20184	0.028	T	0.37033	-0.9723	9	0.21014	T	0.42	.	13.5533	0.61745	0.6536:0.0:0.3464:0.0	.	109	Q8NHC4	O10J5_HUMAN	S	109	ENSP00000334441:T109S	ENSP00000334441:T109S	T	-	2	0	OR10J5	157772096	0.000000	0.05858	0.013000	0.15412	0.052000	0.14988	-0.630000	0.05502	-1.354000	0.02188	-1.583000	0.00853	ACT		0.458	OR10J5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059021.1	NM_001004469		14	55	0	0	0	1	0	14	55				
ZCCHC16	340595	broad.mit.edu	37	X	111698669	111698669	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chrX:111698669T>C	ENST00000340433.2	+	1	943	c.713T>C	c.(712-714)tTg>tCg	p.L238S		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	238							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						TTGGCTTCCTTGATCCAACAC	0.542																																						ENST00000340433.2																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(712-714)tTg>tCg		zinc finger, CCHC domain containing 16							173.0	163.0	166.0					X																	111698669		2203	4300	6503	SO:0001583	missense	340595						nucleic acid binding|zinc ion binding	g.chrX:111698669T>C	AK128465	CCDS35369.1	Xq23	2008-05-02			ENSG00000187823	ENSG00000187823		"""Zinc fingers, CCHC domain containing"""	25214	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_001004308		Approved	Mart4, Mar4, FLJ46608	uc004epo.1	Q6ZR62	OTTHUMG00000159706	ENST00000340433.2:c.713T>C	X.37:g.111698669T>C	ENSP00000340590:p.Leu238Ser						p.L238S	NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN			1	943	+			238					B2RPG1	Missense_Mutation	SNP	ENST00000340433.2	37	c.713T>C	CCDS35369.1	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.365419	0.00212	.	.	ENSG00000187823	ENST00000340433	T	0.28666	1.6	3.89	-1.34	0.09143	.	1.959820	0.03610	N	0.234703	T	0.15912	0.0383	L	0.28274	0.84	0.09310	N	1	B	0.29432	0.244	B	0.27715	0.082	T	0.06862	-1.0803	10	0.08837	T	0.75	1.367	0.291	0.00258	0.1954:0.243:0.1975:0.364	.	238	Q6ZR62	ZCH16_HUMAN	S	238	ENSP00000340590:L238S	ENSP00000340590:L238S	L	+	2	0	ZCCHC16	111585325	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.670000	0.05256	-0.363000	0.08101	0.430000	0.28490	TTG		0.542	ZCCHC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356964.1	NM_001004308		112	151	0	0	0	1	0	112	151				
ANK2	287	broad.mit.edu	37	4	114239726	114239726	+	Silent	SNP	C	C	T	rs189563238	byFrequency	TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr4:114239726C>T	ENST00000357077.4	+	26	2903	c.2850C>T	c.(2848-2850)ggC>ggT	p.G950G	ANK2_ENST00000264366.6_Silent_p.G950G|ANK2_ENST00000509550.1_Silent_p.G159G|ANK2_ENST00000506722.1_Silent_p.G929G|ANK2_ENST00000394537.3_Silent_p.G950G	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	950					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TAAGCTGGGGCACTGAGAACT	0.403																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(2848-2850)ggC>ggT		ankyrin 2, neuronal							132.0	126.0	128.0					4																	114239726		2203	4300	6503	SO:0001819	synonymous_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114239726C>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.2850C>T	4.37:g.114239726C>T						ANK2_ENST00000509550.1_Silent_p.G159G|ANK2_ENST00000506722.1_Silent_p.G929G|ANK2_ENST00000264366.6_Silent_p.G950G|ANK2_ENST00000394537.3_Silent_p.G950G	p.G950G	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	26	2903	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	950					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	c.2850C>T	CCDS3702.1																																																																																				0.403	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		10	10	0	0	0	1	0	10	10				
MORC4	79710	broad.mit.edu	37	X	106229295	106229295	+	Silent	SNP	A	A	G			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chrX:106229295A>G	ENST00000355610.4	-	4	718	c.444T>C	c.(442-444)gtT>gtC	p.V148V	MORC4_ENST00000535534.1_Intron|MORC4_ENST00000255495.7_Silent_p.V148V	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	148						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						ATAGAAGTCCAACAGTGAGAG	0.473																																						ENST00000355610.4																			0				endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						c.(442-444)gtT>gtC		MORC family CW-type zinc finger 4							200.0	190.0	193.0					X																	106229295		1908	4101	6009	SO:0001819	synonymous_variant	79710						ATP binding|zinc ion binding	g.chrX:106229295A>G	AK021627	CCDS14525.2, CCDS48146.1	Xq22.3	2008-02-05	2005-06-15	2005-06-15	ENSG00000133131	ENSG00000133131			23485	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 2"", ""zinc finger, CW type with coiled-coil domain 2"""	ZCWCC2		14607086	Standard	NM_024657		Approved	ZCW4, FLJ11565	uc004emp.4	Q8TE76	OTTHUMG00000022155	ENST00000355610.4:c.444T>C	X.37:g.106229295A>G						MORC4_ENST00000255495.7_Silent_p.V148V|MORC4_ENST00000535534.1_Intron	p.V148V	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN			4	718	-			148					A1YR23|A1YR24|H7BXF1|Q5JUK7|Q96MZ2|Q9HAI7	Silent	SNP	ENST00000355610.4	37	c.444T>C	CCDS14525.2																																																																																				0.473	MORC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057816.3	NM_024657		81	113	0	0	0	1	0	81	113				
UTP6	55813	broad.mit.edu	37	17	30216366	30216366	+	Missense_Mutation	SNP	C	C	T	rs188357533	byFrequency	TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr17:30216366C>T	ENST00000261708.4	-	7	618	c.481G>A	c.(481-483)Gca>Aca	p.A161T	CTC-542B22.2_ENST00000583236.1_lincRNA|UTP6_ENST00000490218.2_5'UTR	NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN	UTP6, small subunit (SSU) processome component, homolog (yeast)	161					rRNA processing (GO:0006364)	nucleolus (GO:0005730)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				AGTTGCCTTGCGCTTTCTGAA	0.393													C|||	2	0.000399361	0.0	0.0	5008	,	,		15436	0.002		0.0	False		,,,				2504	0.0					ENST00000261708.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21						c.(481-483)Gca>Aca		UTP6, small subunit (SSU) processome component, homolog (yeast)		C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	140.0	138.0	139.0		481	5.7	1.0	17		139	0,8600		0,0,4300	yes	missense	UTP6	NM_018428.2	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	161/598	30216366	1,13005	2203	4300	6503	SO:0001583	missense	55813				rRNA processing	nucleolus	binding	g.chr17:30216366C>T	AF116631	CCDS11269.1	17q11.2	2010-06-24	2006-05-16	2006-05-16	ENSG00000108651	ENSG00000108651			18279	protein-coding gene	gene with protein product	"""hepatocellular carcinoma associated antigen 66"""		"""chromosome 17 open reading frame 40"""	C17orf40		10843809, 16138909	Standard	NM_018428		Approved	HCA66	uc002hgr.3	Q9NYH9	OTTHUMG00000132815	ENST00000261708.4:c.481G>A	17.37:g.30216366C>T	ENSP00000261708:p.Ala161Thr					UTP6_ENST00000490218.2_5'UTR	p.A161T	NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN			7	618	-		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)	161					Q8IX96|Q96BL2|Q9NQ91	Missense_Mutation	SNP	ENST00000261708.4	37	c.481G>A	CCDS11269.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	29.4	5.001730	0.93227	2.27E-4	0.0	ENSG00000108651	ENST00000261708	T	0.44482	0.92	5.68	5.68	0.88126	Tetratricopeptide-like helical (1);	0.049124	0.85682	D	0.000000	T	0.67468	0.2896	M	0.87971	2.92	0.58432	D	0.999999	D;D;D	0.89917	0.999;1.0;1.0	P;D;D	0.68621	0.881;0.932;0.959	T	0.71248	-0.4649	10	0.52906	T	0.07	-13.173	14.2691	0.66140	0.1489:0.8511:0.0:0.0	.	161;161;161	B4DSL9;B3KQ21;Q9NYH9	.;.;UTP6_HUMAN	T	161	ENSP00000261708:A161T	ENSP00000261708:A161T	A	-	1	0	UTP6	27240479	1.000000	0.71417	0.993000	0.49108	0.960000	0.62799	3.814000	0.55643	2.672000	0.90937	0.557000	0.71058	GCA		0.393	UTP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256265.2	NM_018428		22	199	0	0	0	1	0	22	199				
ACSM5	54988	broad.mit.edu	37	16	20422897	20422897	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr16:20422897G>C	ENST00000331849.4	+	2	238	c.91G>C	c.(91-93)Gtt>Ctt	p.V31L	ACSM5_ENST00000575584.1_Missense_Mutation_p.V31L	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	31					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						ACCTCTACCTGTTCCTCAGAA	0.577																																						ENST00000331849.4																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						c.(91-93)Gtt>Ctt		acyl-CoA synthetase medium-chain family member 5							90.0	74.0	80.0					16																	20422897		2203	4300	6503	SO:0001583	missense	54988				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20422897G>C		CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"""Acyl-CoA synthetase family"""	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.91G>C	16.37:g.20422897G>C	ENSP00000327916:p.Val31Leu					ACSM5_ENST00000575584.1_Missense_Mutation_p.V31L	p.V31L	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN			2	238	+			31					Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	ENST00000331849.4	37	c.91G>C	CCDS10585.1	.	.	.	.	.	.	.	.	.	.	G	0.620	-0.821553	0.02755	.	.	ENSG00000183549	ENST00000331849	T	0.48201	0.82	4.69	0.0931	0.14475	.	3.398980	0.00879	N	0.002114	T	0.28499	0.0705	N	0.22421	0.69	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.15150	-1.0447	10	0.02654	T	1	-1.6639	3.3947	0.07302	0.44:0.2066:0.3534:0.0	.	31	Q6NUN0	ACSM5_HUMAN	L	31	ENSP00000327916:V31L	ENSP00000327916:V31L	V	+	1	0	ACSM5	20330398	0.000000	0.05858	0.004000	0.12327	0.043000	0.13939	-0.390000	0.07332	0.174000	0.19809	0.655000	0.94253	GTT		0.577	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		13	24	0	0	0	1	0	13	24				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			25	48	0	0	0	1	0	25	48				
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65.0	56.0	59.0					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577121G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		22	4	0	0	0	1	0	22	4				
COL6A6	131873	broad.mit.edu	37	3	130285651	130285651	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr3:130285651T>C	ENST00000358511.6	+	4	1419	c.1388T>C	c.(1387-1389)gTa>gCa	p.V463A	COL6A6_ENST00000453409.2_Missense_Mutation_p.V463A	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	463	Nonhelical region.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TCAGAGGTGGTAGGGATGTTC	0.498																																						ENST00000358511.6																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(1387-1389)gTa>gCa		collagen, type VI, alpha 6							110.0	111.0	111.0					3																	130285651		1956	4128	6084	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130285651T>C	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.1388T>C	3.37:g.130285651T>C	ENSP00000351310:p.Val463Ala					COL6A6_ENST00000453409.2_Missense_Mutation_p.V463A	p.V463A	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN			4	1419	+			463			Nonhelical region.|VWFA 3.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.1388T>C	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	T	12.08	1.831541	0.32329	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.85339	-1.97;-1.97	5.24	2.78	0.32641	von Willebrand factor, type A (3);	0.345019	0.24559	N	0.037489	T	0.77565	0.4149	L	0.43646	1.37	0.20196	N	0.999929	B	0.13145	0.007	B	0.12156	0.007	T	0.62011	-0.6944	10	0.29301	T	0.29	.	9.4609	0.38785	0.0:0.1481:0.0:0.8519	.	463	A6NMZ7	CO6A6_HUMAN	A	463	ENSP00000351310:V463A;ENSP00000399236:V463A	ENSP00000351310:V463A	V	+	2	0	COL6A6	131768341	0.676000	0.27567	0.018000	0.16275	0.763000	0.43281	4.035000	0.57297	0.297000	0.22615	0.459000	0.35465	GTA		0.498	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		4	51	0	0	0	1	0	4	51				
NUP107	57122	broad.mit.edu	37	12	69085759	69085759	+	Silent	SNP	G	G	C			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr12:69085759G>C	ENST00000229179.4	+	5	647	c.315G>C	c.(313-315)ctG>ctC	p.L105L	NUP107_ENST00000378905.2_Intron|NUP107_ENST00000539906.1_Silent_p.L76L	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	105					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			TTACTAATCTGGATGACAGTA	0.368																																						ENST00000229179.4																		NUP107/LGR5(2)	0				breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39						c.(313-315)ctG>ctC		nucleoporin 107kDa							58.0	54.0	56.0					12																	69085759		2203	4300	6503	SO:0001819	synonymous_variant	57122				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr12:69085759G>C	AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.315G>C	12.37:g.69085759G>C						NUP107_ENST00000378905.2_Intron|NUP107_ENST00000539906.1_Silent_p.L76L	p.L105L	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)		5	647	+	Breast(13;6.25e-06)		105					B4DZ67|Q6PJE1	Silent	SNP	ENST00000229179.4	37	c.315G>C	CCDS8985.1																																																																																				0.368	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403195.1	NM_020401		5	70	0	0	0	1	0	5	70				
PTPRD	5789	broad.mit.edu	37	9	8341765	8341765	+	Silent	SNP	C	C	T			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr9:8341765C>T	ENST00000381196.4	-	37	5418	c.4875G>A	c.(4873-4875)ttG>ttA	p.L1625L	PTPRD_ENST00000358503.5_Silent_p.L1603L|PTPRD_ENST00000355233.5_Silent_p.L1219L|PTPRD_ENST00000486161.1_Silent_p.L1218L|PTPRD_ENST00000397617.3_Silent_p.L1218L|PTPRD_ENST00000540109.1_Silent_p.L1625L|PTPRD_ENST00000356435.5_Silent_p.L1625L|PTPRD_ENST00000397611.3_Silent_p.L1215L|PTPRD_ENST00000397606.3_Silent_p.L1218L|PTPRD_ENST00000537002.1_Silent_p.L1215L|PTPRD_ENST00000360074.4_Silent_p.L1612L	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1625					heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TGTAGGCATACAAGTTTCTAG	0.403										TSP Lung(15;0.13)																												ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(4873-4875)ttG>ttA		protein tyrosine phosphatase, receptor type, D							303.0	276.0	285.0					9																	8341765		2203	4300	6503	SO:0001819	synonymous_variant	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8341765C>T	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.4875G>A	9.37:g.8341765C>T		TSP Lung(15;0.13)				PTPRD_ENST00000397611.3_Silent_p.L1215L|PTPRD_ENST00000360074.4_Silent_p.L1612L|PTPRD_ENST00000540109.1_Silent_p.L1625L|PTPRD_ENST00000537002.1_Silent_p.L1215L|PTPRD_ENST00000358503.5_Silent_p.L1603L|PTPRD_ENST00000486161.1_Silent_p.L1218L|PTPRD_ENST00000356435.5_Silent_p.L1625L|PTPRD_ENST00000397617.3_Silent_p.L1218L|PTPRD_ENST00000355233.5_Silent_p.L1219L|PTPRD_ENST00000397606.3_Silent_p.L1218L	p.L1625L	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	37	5418	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1625					B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Silent	SNP	ENST00000381196.4	37	c.4875G>A	CCDS43786.1																																																																																				0.403	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			78	123	0	0	0	1	0	78	123				
DOLK	22845	broad.mit.edu	37	9	131708674	131708674	+	Silent	SNP	A	A	G			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr9:131708674A>G	ENST00000372586.3	-	1	1224	c.909T>C	c.(907-909)taT>taC	p.Y303Y	NUP188_ENST00000372577.2_5'Flank|RP11-101E3.5_ENST00000482796.1_Intron	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN	dolichol kinase	303					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|dolichyl monophosphate biosynthetic process (GO:0043048)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	dolichol kinase activity (GO:0004168)			breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						GCAGAGACCAATAGGCTAGGA	0.602																																						ENST00000372586.3																			0				breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						c.(907-909)taT>taC		dolichol kinase							93.0	104.0	100.0					9																	131708674		2203	4300	6503	SO:0001819	synonymous_variant	22845				dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane|membrane fraction	dolichol kinase activity	g.chr9:131708674A>G	AB029017	CCDS6915.1	9q34.13	2014-09-17	2007-02-09	2007-02-09	ENSG00000175283	ENSG00000175283			23406	protein-coding gene	gene with protein product	"""dolichol kinase 1"""	610746	"""transmembrane protein 15"""	TMEM15		12975309, 16923818	Standard	NM_014908		Approved	KIAA1094, DK1	uc004bwr.3	Q9UPQ8	OTTHUMG00000020765	ENST00000372586.3:c.909T>C	9.37:g.131708674A>G						RP11-101E3.5_ENST00000482796.1_Intron	p.Y303Y	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN			1	1224	-			303					Q5SRE6	Silent	SNP	ENST00000372586.3	37	c.909T>C	CCDS6915.1																																																																																				0.602	DOLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054515.1	NM_014908		20	146	0	0	0	1	0	20	146				
SMARCD3	6604	broad.mit.edu	37	7	150945585	150945585	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr7:150945585G>C	ENST00000262188.8	-	1	474	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V	RP5-1070G24.2_ENST00000466775.1_RNA|SMARCD3_ENST00000477169.1_Intron|SMARCD3_ENST00000392811.2_Intron|SMARCD3_ENST00000356800.2_Intron	NM_001003801.1	NP_001003801.1	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3	22					cardiac right ventricle formation (GO:0003219)|cellular lipid metabolic process (GO:0044255)|chromatin remodeling (GO:0006338)|muscle cell differentiation (GO:0042692)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein binding (GO:0043393)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|secondary heart field specification (GO:0003139)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|receptor binding (GO:0005102)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCATGGACCAGAAACTCAAAA	0.647																																						ENST00000262188.8																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15						c.(64-66)Ctg>Gtg		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3							102.0	99.0	100.0					7																	150945585		2203	4300	6503	SO:0001583	missense	6604				cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding	g.chr7:150945585G>C	U66619	CCDS5924.1, CCDS34780.1	7q35-q36	2008-07-18			ENSG00000082014	ENSG00000082014			11108	protein-coding gene	gene with protein product	"""mammalian chromatin remodeling complex BRG1-associated factor 60C"", ""Swp73-like protein"", ""SWI/SNF complex 60 kDa subunit C"", ""60kDa BRG-1/Brm associated factor subunit c"""	601737				8804307, 9693044	Standard	NM_001003801		Approved	BAF60C, Rsc6p, CRACD3	uc003wjs.3	Q6STE5	OTTHUMG00000157431	ENST00000262188.8:c.64C>G	7.37:g.150945585G>C	ENSP00000262188:p.Leu22Val					SMARCD3_ENST00000392811.2_Intron|SMARCD3_ENST00000477169.1_Intron|SMARCD3_ENST00000356800.2_Intron	p.L22V	NM_001003801.1	NP_001003801.1	Q6STE5	SMRD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	1	474	-			22					D3DX10|Q2YD86|Q75MJ2|Q75MR8|Q92926|Q9BUH1	Missense_Mutation	SNP	ENST00000262188.8	37	c.64C>G	CCDS34780.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.820688	0.32145	.	.	ENSG00000082014	ENST00000262188	T	0.50001	0.76	3.51	2.62	0.31277	.	0.000000	0.42821	U	0.000646	T	0.43656	0.1257	L	0.41236	1.265	0.80722	D	1	P;D;B	0.61697	0.718;0.99;0.004	B;P;B	0.51516	0.332;0.672;0.004	T	0.23119	-1.0197	10	0.42905	T	0.14	-0.9543	6.998	0.24793	0.1356:0.0:0.8644:0.0	.	22;22;22	B7Z4U8;B7ZA58;Q6STE5	.;.;SMRD3_HUMAN	V	22	ENSP00000262188:L22V	ENSP00000262188:L22V	L	-	1	2	SMARCD3	150576518	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	5.299000	0.65716	0.578000	0.29487	-0.339000	0.08088	CTG		0.647	SMARCD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348825.1	NM_001003801		88	88	0	0	0	1	0	88	88				
MTMR8	55613	broad.mit.edu	37	X	63563595	63563595	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chrX:63563595C>G	ENST00000374852.3	-	8	938	c.871G>C	c.(871-873)Gaa>Caa	p.E291Q	MTMR8_ENST00000478487.1_5'UTR|MTMR8_ENST00000453546.1_Missense_Mutation_p.E291Q	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	291	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						GTTTTCAATTCACAAACTAAG	0.383																																						ENST00000374852.3																			1	Whole gene deletion(1)	p.0?(1)	ovary(1)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						c.(871-873)Gaa>Caa		myotubularin related protein 8							49.0	41.0	44.0					X																	63563595		2203	4299	6502	SO:0001583	missense	55613					nuclear envelope	protein tyrosine phosphatase activity	g.chrX:63563595C>G	AK000133	CCDS14379.1	Xq11.2-q12	2013-01-11			ENSG00000102043	ENSG00000102043		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	16825	protein-coding gene	gene with protein product						11275328	Standard	NM_017677		Approved	FLJ20126	uc004dvs.3	Q96EF0	OTTHUMG00000021707	ENST00000374852.3:c.871G>C	X.37:g.63563595C>G	ENSP00000363985:p.Glu291Gln					MTMR8_ENST00000453546.1_Missense_Mutation_p.E291Q|MTMR8_ENST00000478487.1_5'UTR	p.E291Q	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN			8	938	-			291			Myotubularin phosphatase.		Q5JT99|Q9NXP6	Missense_Mutation	SNP	ENST00000374852.3	37	c.871G>C	CCDS14379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.59|15.59	2.879724|2.879724	0.51801|0.51801	.|.	.|.	ENSG00000102043|ENSG00000102043	ENST00000453546;ENST00000374852;ENST00000247400|ENST00000442913	D;D|.	0.93547|.	-3.24;-3.24|.	3.34|3.34	3.34|3.34	0.38264|0.38264	Myotubularin phosphatase domain (1);|.	0.311695|.	0.23224|.	U|.	0.050538|.	T|.	0.54303|.	0.1850|.	L|L	0.45581|0.45581	1.43|1.43	0.34717|0.34717	D|D	0.72839|0.72839	D;B|.	0.54964|.	0.969;0.249|.	P;B|.	0.47162|.	0.54;0.254|.	T|.	0.64145|.	-0.6476|.	10|.	0.39692|.	T|.	0.17|.	.|.	13.0662|13.0662	0.59034|0.59034	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	291;291|.	B4DQL0;Q96EF0|.	.;MTMR8_HUMAN|.	Q|S	291;291;177|94	ENSP00000394003:E291Q;ENSP00000363985:E291Q|.	ENSP00000247400:E177Q|.	E|X	-|-	1|2	0|2	MTMR8|MTMR8	63480320|63480320	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.598000|5.598000	0.67585|0.67585	1.684000|1.684000	0.51022|0.51022	0.513000|0.513000	0.50165|0.50165	GAA|TGA		0.383	MTMR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056949.2	NM_017677		15	18	0	0	0	1	0	15	18				
KRT33A	3883	broad.mit.edu	37	17	39502820	39502820	+	Missense_Mutation	SNP	G	G	A	rs565590585		TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr17:39502820G>A	ENST00000007735.3	-	6	1021	c.977C>T	c.(976-978)gCg>gTg	p.A326V		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	326	Coil 2.|Rod.					extracellular space (GO:0005615)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				GCGGATCTCCGCCAGCTGGGA	0.627													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16519	0.0		0.0	False		,,,				2504	0.0					ENST00000007735.3																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21						c.(976-978)gCg>gTg		keratin 33A							64.0	63.0	64.0					17																	39502820		2203	4300	6503	SO:0001583	missense	3883					intermediate filament	protein binding|structural molecule activity	g.chr17:39502820G>A	Y16788	CCDS11388.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000006059	ENSG00000006059		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6450	protein-coding gene	gene with protein product	"""hard keratin type I 3I"""	602761	"""keratin, hair, acidic, 3A"""	KRTHA3A		7565656, 16831889	Standard	NM_004138		Approved	Ha-3I, Krt1-3	uc002hwk.2	O76009	OTTHUMG00000133432	ENST00000007735.3:c.977C>T	17.37:g.39502820G>A	ENSP00000007735:p.Ala326Val						p.A326V	NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN			6	1021	-		Breast(137;0.000496)	326			Coil 2.|Rod.		B2RA87|Q6NTB9|Q6ZZB9	Missense_Mutation	SNP	ENST00000007735.3	37	c.977C>T	CCDS11388.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.078805	0.55753	.	.	ENSG00000006059	ENST00000007735	D	0.89485	-2.52	4.55	2.44	0.29823	Filament (1);	0.185884	0.38326	N	0.001739	D	0.93475	0.7918	M	0.82823	2.61	0.09310	N	0.999997	D	0.56035	0.974	P	0.60117	0.869	D	0.88363	0.2989	10	0.62326	D	0.03	.	15.652	0.77104	0.0:0.5869:0.4131:0.0	.	326	O76009	KT33A_HUMAN	V	326	ENSP00000007735:A326V	ENSP00000007735:A326V	A	-	2	0	KRT33A	36756346	0.000000	0.05858	0.071000	0.20095	0.740000	0.42216	-0.017000	0.12590	0.573000	0.29400	0.655000	0.94253	GCG		0.627	KRT33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257295.1	NM_004138		4	83	0	0	0	1	0	4	83				
SLC25A5	292	broad.mit.edu	37	X	118603879	118603879	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chrX:118603879G>A	ENST00000317881.8	+	2	483	c.367G>A	c.(367-369)Gca>Aca	p.A123T	SLC25A5-AS1_ENST00000446986.1_RNA|SLC25A5_ENST00000460013.1_3'UTR	NM_001152.4	NP_001143.2	P05141	ADT2_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5	123					adenine transport (GO:0015853)|chromosome segregation (GO:0007059)|energy reserve metabolic process (GO:0006112)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|positive regulation of cell proliferation (GO:0008284)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|MMXD complex (GO:0071817)|nucleus (GO:0005634)	adenine transmembrane transporter activity (GO:0015207)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(2)	12					Clodronate(DB00720)	GGGTGGTGCCGCAGGGGCCAC	0.527																																						ENST00000317881.8																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(2)	12						c.(367-369)Gca>Aca		solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5	Clodronate(DB00720)						92.0	92.0	92.0					X																	118603879		2203	4300	6503	SO:0001583	missense	292				chromosome segregation|energy reserve metabolic process|interspecies interaction between organisms|regulation of insulin secretion|viral reproduction	integral to plasma membrane|mitochondrial inner membrane|mitochondrial nucleoid|MMXD complex	adenine transmembrane transporter activity|protein binding	g.chrX:118603879G>A	BC068199	CCDS14578.1	Xq24	2013-08-09			ENSG00000005022	ENSG00000005022		"""Solute carriers"""	10991	protein-coding gene	gene with protein product		300150		ANT2		2168878, 2829183	Standard	NM_001152		Approved	T2, 2F1, T3	uc004erh.4	P05141	OTTHUMG00000022715	ENST00000317881.8:c.367G>A	X.37:g.118603879G>A	ENSP00000360671:p.Ala123Thr					SLC25A5_ENST00000460013.1_3'UTR	p.A123T	NM_001152.4	NP_001143.2	P05141	ADT2_HUMAN			2	483	+			123					B2RCV1|O43350	Missense_Mutation	SNP	ENST00000317881.8	37	c.367G>A	CCDS14578.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.103021	0.76983	.	.	ENSG00000005022	ENST00000317881	D	0.87650	-2.28	4.35	4.35	0.52113	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.92315	0.7562	M	0.91561	3.22	0.80722	D	1	D	0.61080	0.989	P	0.51487	0.671	D	0.94308	0.7543	10	0.87932	D	0	.	15.2759	0.73742	0.0:0.0:1.0:0.0	.	123	P05141	ADT2_HUMAN	T	123	ENSP00000360671:A123T	ENSP00000360671:A123T	A	+	1	0	SLC25A5	118487907	1.000000	0.71417	0.505000	0.27651	0.948000	0.59901	9.356000	0.97091	2.100000	0.63781	0.529000	0.55759	GCA		0.527	SLC25A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058952.2	NM_001152		4	151	0	0	0	1	0	4	151				
UROD	7389	broad.mit.edu	37	1	45480412	45480412	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr1:45480412T>C	ENST00000246337.4	+	8	898	c.779T>C	c.(778-780)aTc>aCc	p.I260T	UROD_ENST00000494399.1_3'UTR	NM_000374.4	NP_000365.3	P06132	DCUP_HUMAN	uroporphyrinogen decarboxylase	260			I -> T (in FPCT; decrease of activity). {ECO:0000269|PubMed:11719352}.		heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	uroporphyrinogen decarboxylase activity (GO:0004853)			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4	Acute lymphoblastic leukemia(166;0.155)					TTCTAGATCATCTTTGCTAAG	0.522									Porphyria Cutanea Tarda, Type II		OREG0013449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000246337.4																			0				endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4	GRCh37	CM013617	UROD	M		c.(778-780)aTc>aCc		uroporphyrinogen decarboxylase							77.0	76.0	76.0					1																	45480412		2203	4300	6503	SO:0001583	missense	7389	Porphyria Cutanea Tarda, Type II	Familial Cancer Database	PCT-II		cytosol|microtubule cytoskeleton|nucleus	uroporphyrinogen decarboxylase activity	g.chr1:45480412T>C	BC001778	CCDS518.1	1p34	2012-10-02			ENSG00000126088	ENSG00000126088	4.1.1.37		12591	protein-coding gene	gene with protein product		613521				3015909, 3460962	Standard	NM_000374		Approved		uc001cna.2	P06132	OTTHUMG00000008949	ENST00000246337.4:c.779T>C	1.37:g.45480412T>C	ENSP00000246337:p.Ile260Thr		OREG0013449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	931	UROD_ENST00000494399.1_3'UTR	p.I260T	NM_000374.4	NP_000365.3	P06132	DCUP_HUMAN			8	898	+	Acute lymphoblastic leukemia(166;0.155)		260		I -> T (in FPCT; decrease of activity).			A8K762|Q16863|Q16883|Q53YB8|Q53ZP6|Q6IB28|Q9BUZ0	Missense_Mutation	SNP	ENST00000246337.4	37	c.779T>C	CCDS518.1	.	.	.	.	.	.	.	.	.	.	T	15.71	2.914939	0.52546	.	.	ENSG00000126088	ENST00000246337;ENST00000372139	D	0.94576	-3.46	5.89	5.89	0.94794	Uroporphyrinogen decarboxylase (URO-D) (1);	0.112312	0.64402	D	0.000012	D	0.93552	0.7942	L	0.40543	1.245	0.53688	D	0.999972	P	0.48764	0.915	P	0.48654	0.585	D	0.94285	0.7523	10	0.87932	D	0	-15.5455	16.3158	0.82923	0.0:0.0:0.0:1.0	.	260	P06132	DCUP_HUMAN	T	260;199	ENSP00000246337:I260T	ENSP00000246337:I260T	I	+	2	0	UROD	45252999	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.684000	0.68197	2.254000	0.74563	0.533000	0.62120	ATC		0.522	UROD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024803.1	NM_000374		4	37	0	0	0	1	0	4	37				
CACYBP	27101	broad.mit.edu	37	1	174973950	174973950	+	Silent	SNP	G	G	A			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr1:174973950G>A	ENST00000367679.2	+	2	664	c.216G>A	c.(214-216)acG>acA	p.T72T	CACYBP_ENST00000367681.2_Silent_p.T29T|CACYBP_ENST00000405362.1_Silent_p.T29T|CACYBP_ENST00000406752.1_Splice_Site_p.T72T	NM_014412.2	NP_055227.1	Q9HB71	CYBP_HUMAN	calcyclin binding protein	72	Interaction with SIAH1.				aging (GO:0007568)|cardiac muscle cell differentiation (GO:0055007)|cellular response to calcium ion (GO:0071277)|negative regulation of cell death (GO:0060548)|positive regulation of DNA replication (GO:0045740)|response to growth hormone (GO:0060416)	beta-catenin destruction complex (GO:0030877)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nuclear envelope lumen (GO:0005641)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	11						CGGGCTATACGGTGAAAATCA	0.413																																						ENST00000406752.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	11						c.e2+1		calcyclin binding protein							81.0	77.0	78.0					1																	174973950		2203	4300	6503	SO:0001819	synonymous_variant	27101					beta-catenin destruction complex	protein homodimerization activity	g.chr1:174973950G>A	BC022352	CCDS1315.1, CCDS30942.1	1q24-q25	2008-02-05			ENSG00000116161	ENSG00000116161			30423	protein-coding gene	gene with protein product		606186				11389839, 12421809	Standard	XM_005245092		Approved	SIP, S100A6BP	uc001gkj.1	Q9HB71	OTTHUMG00000034941	ENST00000367679.2:c.216G>A	1.37:g.174973950G>A						CACYBP_ENST00000367679.2_Silent_p.T72T|CACYBP_ENST00000367681.2_Silent_p.T29T|CACYBP_ENST00000405362.1_Silent_p.T29T	p.T72_splice			Q9HB71	CYBP_HUMAN			2	216	+			72			Interaction with SIAH1.		B2ZWH2|B3KSF1|O60666|Q5R370|Q5R371	Splice_Site	SNP	ENST00000367679.2	37	c.216_splice	CCDS1315.1																																																																																				0.413	CACYBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084583.3	NM_014412		17	64	0	0	0	1	0	17	64				
RGAG4	340526	broad.mit.edu	37	X	71350457	71350457	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chrX:71350457G>A	ENST00000545866.1	-	1	1301	c.934C>T	c.(934-936)Cgc>Tgc	p.R312C	NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000609883.1_Missense_Mutation_p.R312C	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	312										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					TTGGGAACGCGCACTTTTCTT	0.483																																						ENST00000545866.1																			0				cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24						c.(934-936)Cgc>Tgc		retrotransposon gag domain containing 4							109.0	104.0	106.0					X																	71350457		1923	4123	6046	SO:0001583	missense	340526							g.chrX:71350457G>A	AB082532	CCDS55446.1	Xq13.1	2008-02-05			ENSG00000242732	ENSG00000242732			29430	protein-coding gene	gene with protein product						12056414, 15716091, 16093683	Standard	NM_001024455		Approved	KIAA2001, Mar5, Mart5	uc004eaj.2	Q5HYW3	OTTHUMG00000021808	ENST00000545866.1:c.934C>T	X.37:g.71350457G>A	ENSP00000441366:p.Arg312Cys					NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000479991.1_Missense_Mutation_p.R312C	p.R312C			Q5HYW3	RGAG4_HUMAN			1	1301	-	Renal(35;0.156)		312					A7E2W7|Q8NCM4|Q9NPX1	Missense_Mutation	SNP	ENST00000545866.1	37	c.934C>T	CCDS55446.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.185153	0.38609	.	.	ENSG00000242732	ENST00000545866;ENST00000479991	T;T	0.13657	2.57;2.57	4.13	2.33	0.28932	.	.	.	.	.	T	0.05823	0.0152	N	0.08118	0	0.26361	N	0.977046	B	0.18610	0.029	B	0.10450	0.005	T	0.42447	-0.9451	8	.	.	.	-3.3892	4.7984	0.13284	0.1222:0.2162:0.6615:0.0	.	312	Q5HYW3	RGAG4_HUMAN	C	312	ENSP00000441366:R312C;ENSP00000418667:R312C	.	R	-	1	0	RGAG4	71267182	0.444000	0.25649	0.505000	0.27651	0.814000	0.46013	0.538000	0.23160	0.493000	0.27837	0.600000	0.82982	CGC		0.483	RGAG4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057171.1	NM_001024455		15	148	0	0	0	1	0	15	148				
IGHG3	3502	broad.mit.edu	37	14	106236175	106236175	+	RNA	SNP	G	G	A	rs371415797		TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr14:106236175G>A	ENST00000390551.2	-	0	628							P01860	IGHG3_HUMAN	immunoglobulin heavy constant gamma 3 (G3m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										CCTCCACGCCGTCCACGTACC	0.607																																						ENST00000390551.2																			0															G		0,4294		0,0,2147	165.0	144.0	151.0			-1.1	0.0	14		151	2,8476		0,2,4237	no	intergenic				0,2,6384	AA,AG,GG		0.0236,0.0,0.0157			106236175	2,12770	2147	4239	6386			0							g.chr14:106236175G>A	M12958		14q32.33	2012-10-02			ENSG00000211897	ENSG00000211897		"""Immunoglobulins / IGH locus"""	5527	other	immunoglobulin gene		147120				6808505	Standard	NG_001019		Approved			P01860	OTTHUMG00000152539		14.37:g.106236175G>A														0	628	-								A2NU35	RNA	SNP	ENST00000390551.2	37																																																																																						0.607	IGHG3-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326654.1	NG_001019		90	153	0	0	0	1	0	90	153				
PRRC2A	7916	broad.mit.edu	37	6	31599148	31599148	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr6:31599148C>T	ENST00000376033.2	+	16	2932	c.2698C>T	c.(2698-2700)Cga>Tga	p.R900*	PRRC2A_ENST00000376007.4_Nonsense_Mutation_p.R900*	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	900	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						AGAAGCAGGCCGAAAGCCTGC	0.667																																						ENST00000376033.2																			0				breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						c.(2698-2700)Cga>Tga		proline-rich coiled-coil 2A							28.0	23.0	25.0					6																	31599148		1508	2708	4216	SO:0001587	stop_gained	7916					cytoplasm|nucleus	protein binding	g.chr6:31599148C>T	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.2698C>T	6.37:g.31599148C>T	ENSP00000365201:p.Arg900*					PRRC2A_ENST00000376007.4_Nonsense_Mutation_p.R900*	p.R900*	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN			16	2932	+			900			4 X 57 AA type A repeats.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Nonsense_Mutation	SNP	ENST00000376033.2	37	c.2698C>T	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	C	41	8.578824	0.98870	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010	.	.	.	4.93	3.08	0.35506	.	0.000000	0.45606	D	0.000341	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-8.4462	11.97	0.53058	0.6002:0.3998:0.0:0.0	.	.	.	.	X	900;889;900;900;125	.	ENSP00000365175:R900X	R	+	1	2	PRRC2A	31707127	0.007000	0.16637	0.953000	0.39169	0.882000	0.50991	0.296000	0.19083	0.616000	0.30141	0.561000	0.74099	CGA		0.667	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		5	23	0	0	0	1	0	5	23				
COL4A5	1287	broad.mit.edu	37	X	107938635	107938635	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chrX:107938635T>C	ENST00000361603.2	+	50	5186	c.4942T>C	c.(4942-4944)Tgg>Cgg	p.W1648R	COL4A5_ENST00000328300.6_Missense_Mutation_p.W1654R	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1648	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.		Missing (in APSX). {ECO:0000269|PubMed:7853788}.		axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CTACAGCTTTTGGCTGGCAAC	0.473									Alport syndrome with Diffuse Leiomyomatosis																													ENST00000328300.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						c.(4960-4962)Tgg>Cgg		collagen, type IV, alpha 5							125.0	110.0	115.0					X																	107938635		2203	4300	6503	SO:0001583	missense	1287	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107938635T>C	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.4942T>C	X.37:g.107938635T>C	ENSP00000354505:p.Trp1648Arg					COL4A5_ENST00000361603.2_Missense_Mutation_p.W1648R	p.W1654R	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN			52	5204	+			1648		Missing (in APSX).	Collagen IV NC1.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	c.4960T>C	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.420139	0.83559	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.99311	-5.73;-5.73	5.44	5.44	0.79542	C-type lectin fold (1);	0.000000	0.85682	D	0.000000	D	0.99622	0.9862	H	0.97158	3.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97601	1.0123	10	0.87932	D	0	.	14.5859	0.68322	0.0:0.0:0.0:1.0	.	1651;1648	E7EVY4;P29400	.;CO4A5_HUMAN	R	1654;1648;1654	ENSP00000331902:W1654R;ENSP00000354505:W1648R	ENSP00000331902:W1654R	W	+	1	0	COL4A5	107825291	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	1.825000	0.53177	0.486000	0.48141	TGG		0.473	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			7	115	0	0	0	1	0	7	115				
DSG2	1829	broad.mit.edu	37	18	29102206	29102206	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr18:29102206C>A	ENST00000261590.8	+	6	893	c.684C>A	c.(682-684)gaC>gaA	p.D228E	DSG2_ENST00000585206.1_Missense_Mutation_p.D228E	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	228	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TTACCTTGGACAGAGAGGTAA	0.348																																						ENST00000261590.8																			0				breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49						c.(682-684)gaC>gaA		desmoglein 2							100.0	93.0	95.0					18																	29102206		1841	4097	5938	SO:0001583	missense	1829				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:29102206C>A	Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"""Cadherins / Major cadherins"""	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.684C>A	18.37:g.29102206C>A	ENSP00000261590:p.Asp228Glu					DSG2_ENST00000585206.1_Missense_Mutation_p.D228E	p.D228E	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0068)		6	893	+			228			Cadherin 2.		Q4KKU6	Missense_Mutation	SNP	ENST00000261590.8	37	c.684C>A	CCDS42423.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.413465	0.42817	.	.	ENSG00000046604	ENST00000261590	T	0.63255	-0.03	5.53	4.65	0.58169	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000006	D	0.85575	0.5728	H	0.98629	4.285	0.42936	D	0.99433	D	0.89917	1.0	D	0.91635	0.999	D	0.88996	0.3418	10	0.87932	D	0	.	10.3904	0.44164	0.0:0.8539:0.0:0.1461	.	228	Q14126	DSG2_HUMAN	E	228	ENSP00000261590:D228E	ENSP00000261590:D228E	D	+	3	2	DSG2	27356204	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	1.626000	0.37039	2.763000	0.94921	0.555000	0.69702	GAC		0.348	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943		20	41	1	0	2.37509e-13	1	2.50704e-13	20	41				
SCAF11	9169	broad.mit.edu	37	12	46320027	46320027	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr12:46320027T>C	ENST00000369367.3	-	11	3690	c.3457A>G	c.(3457-3459)Act>Gct	p.T1153A	SCAF11_ENST00000549162.1_Missense_Mutation_p.T961A|SCAF11_ENST00000550629.1_5'Flank|SCAF11_ENST00000419565.2_Missense_Mutation_p.T1153A|SCAF11_ENST00000465950.1_Missense_Mutation_p.T838A	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1153					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GCTGGCAAAGTCTTTCTCACG	0.458																																						ENST00000465950.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						c.(2512-2514)Act>Gct		SR-related CTD-associated factor 11							170.0	150.0	157.0					12																	46320027		2203	4300	6503	SO:0001583	missense	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46320027T>C	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.3457A>G	12.37:g.46320027T>C	ENSP00000358374:p.Thr1153Ala					SCAF11_ENST00000419565.2_Missense_Mutation_p.T1153A|SCAF11_ENST00000549162.1_Missense_Mutation_p.T961A|SCAF11_ENST00000369367.3_Missense_Mutation_p.T1153A	p.T838A			Q99590	SCAFB_HUMAN			1	3721	-			1153					A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	ENST00000369367.3	37	c.2512A>G	CCDS8748.2	.	.	.	.	.	.	.	.	.	.	T	14.65	2.598428	0.46318	.	.	ENSG00000139218	ENST00000465950;ENST00000369367;ENST00000549162;ENST00000419565	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	5.91	5.91	0.95273	.	0.151228	0.47455	D	0.000239	T	0.71426	0.3338	M	0.65498	2.005	0.48571	D	0.999671	D;D	0.89917	0.971;1.0	P;D	0.80764	0.832;0.994	T	0.74337	-0.3698	10	0.87932	D	0	-8.3524	16.3484	0.83171	0.0:0.0:0.0:1.0	.	961;1153	F8VXG7;Q99590	.;SCAFB_HUMAN	A	838;1153;961;1153	ENSP00000449812:T838A;ENSP00000358374:T1153A;ENSP00000448864:T961A;ENSP00000413036:T1153A	ENSP00000358374:T1153A	T	-	1	0	SCAF11	44606294	1.000000	0.71417	1.000000	0.80357	0.002000	0.02628	7.156000	0.77453	2.267000	0.75376	0.533000	0.62120	ACT		0.458	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		4	119	0	0	0	1	0	4	119				
FAM181B	220382	broad.mit.edu	37	11	82444517	82444517	+	Silent	SNP	G	G	C			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr11:82444517G>C	ENST00000329203.3	-	1	389	c.255C>G	c.(253-255)ggC>ggG	p.G85G		NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN	family with sequence similarity 181, member B	85										large_intestine(1)|lung(2)|prostate(1)	4						GCTTCGACTTGCCCGGCTTGT	0.677																																						ENST00000329203.3																			0				large_intestine(1)|lung(2)|prostate(1)	4						c.(253-255)ggC>ggG		family with sequence similarity 181, member B							27.0	20.0	22.0					11																	82444517		2202	4299	6501	SO:0001819	synonymous_variant	220382							g.chr11:82444517G>C	AK095054, BC039262	CCDS31648.1	11q14.1	2011-11-30			ENSG00000182103	ENSG00000182103			28512	protein-coding gene	gene with protein product						12477932	Standard	NM_175885		Approved	LOC220382, MGC33846	uc001ozp.3	A6NEQ2	OTTHUMG00000166869	ENST00000329203.3:c.255C>G	11.37:g.82444517G>C							p.G85G	NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN			1	389	-			85					B2RWP1	Silent	SNP	ENST00000329203.3	37	c.255C>G	CCDS31648.1																																																																																				0.677	FAM181B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391626.1	NM_175885		3	7	0	0	0	1	0	3	7				
PADI6	353238	broad.mit.edu	37	1	17721722	17721723	+	RNA	DEL	GA	GA	-	rs147310450|rs141096512|rs58784721	byFrequency	TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr1:17721722_17721723delGA	ENST00000434762.2	+	0	1545							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	tttgttttttgagagtcttgct	0.485														1607	0.320887	0.3389	0.366	5008	,	,		16526	0.1716		0.3738	False		,,,				2504	0.364					ENST00000434762.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29								peptidyl arginine deiminase, type VI	L-Citrulline(DB00155)																																					353238				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17721722_17721723delGA	AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"""Peptidyl arginine deiminases"""	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17721724_17721725delGA										Q6TGC4	PADI6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	0	1545	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)						Q330K5|Q70SX3	RNA	DEL	ENST00000434762.2	37																																																																																						0.485	PADI6-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000006804.4	NM_207421		6	10						6	10	---	---	---	---
ANKRD36	375248	broad.mit.edu	37	2	97877449	97877449	+	Frame_Shift_Del	DEL	A	A	-			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr2:97877449delA	ENST00000461153.2	+	58	3684	c.3440delA	c.(3439-3441)gaafs	p.E1147fs	ANKRD36_ENST00000420699.2_Frame_Shift_Del_p.E1147fs			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	1147										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						ATGGCCACGGAAAAAAAGGAT	0.333																																						ENST00000420699.2																			0				endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(3439-3441)gafs		ankyrin repeat domain 36							144.0	136.0	139.0					2																	97877449		692	1591	2283	SO:0001589	frameshift_variant	375248							g.chr2:97877449delA	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.3440delA	2.37:g.97877449delA	ENSP00000419530:p.Glu1147fs					ANKRD36_ENST00000461153.2_Frame_Shift_Del_p.E1147fs	p.E1147fs	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN			58	3684	+			1147					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Frame_Shift_Del	DEL	ENST00000461153.2	37	c.3440delA	CCDS54379.1																																																																																				0.333	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			2	4						2	4	---	---	---	---
RP11-19N8.4	0	broad.mit.edu	37	16	33070154	33070154	+	lincRNA	DEL	C	C	-			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr16:33070154delC	ENST00000561541.1	-	0	291																											CCTATCACATCCCATTCCAGC	0.488																																						ENST00000561541.1																			0																																																			0							g.chr16:33070154delC																													16.37:g.33070154delC														0	291	-									RNA	DEL	ENST00000561541.1	37																																																																																						0.488	RP11-19N8.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000432096.1			6	4						6	4	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76939469	76939470	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chrX:76939469_76939470delTC	ENST00000373344.5	-	9	1492_1493	c.1278_1279delGA	c.(1276-1281)gagaaafs	p.K427fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.K389fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	427					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTGGTATTTTTCTCTTTGTTTA	0.366			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(1276-1281)gaaafs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76939469_76939470delTC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.1278_1279delGA	X.37:g.76939471_76939472delTC	ENSP00000362441:p.Lys427fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.EK388fs	p.EK426fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	1492_1493	-			426					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.1278_1279delGA	CCDS14434.1																																																																																				0.366	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		127	240						127	240	---	---	---	---
