#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
NUPR1	26471	broad.mit.edu	37	16	28549403	28549403	+	Silent	SNP	G	G	A			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr16:28549403G>A	ENST00000324873.6	-	2	452	c.186C>T	c.(184-186)caC>caT	p.H62H	NUPR1_ENST00000395641.2_Silent_p.H80H	NM_001042483.1|NM_012385.2	NP_001035948.1|NP_036517.1	O60356	NUPR1_HUMAN	nuclear protein, transcriptional regulator, 1	62					acute inflammatory response (GO:0002526)|cell growth (GO:0016049)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male gonad development (GO:0008584)|negative regulation of cell cycle (GO:0045786)|negative regulation of fibroblast proliferation (GO:0048147)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein modification process (GO:0031401)|protein acetylation (GO:0006473)|protein complex assembly (GO:0006461)|regulation of female gonad development (GO:2000194)|regulation of transcription, DNA-templated (GO:0006355)|response to toxic substance (GO:0009636)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|large_intestine(1)|lung(1)	3						GTTTCCTCTCGTGCCCGCCAG	0.622																																						ENST00000324873.6																			0				breast(1)|large_intestine(1)|lung(1)	3						c.(184-186)caC>caT		nuclear protein, transcriptional regulator, 1							123.0	139.0	134.0					16																	28549403		2197	4300	6497	SO:0001819	synonymous_variant	26471				cell growth|induction of apoptosis	nucleus		g.chr16:28549403G>A	AF069073	CCDS10634.1, CCDS42137.1	16p11.2	2012-07-04	2012-07-04		ENSG00000176046	ENSG00000176046			29990	protein-coding gene	gene with protein product	"""candidate of metastasis 1"""	614812				9405444, 10493524, 10092851	Standard	NM_012385		Approved	COM1, p8	uc002dqd.1	O60356	OTTHUMG00000131764	ENST00000324873.6:c.186C>T	16.37:g.28549403G>A						NUPR1_ENST00000395641.2_Silent_p.H80H	p.H62H	NM_001042483.1|NM_012385.2	NP_001035948.1|NP_036517.1	O60356	NUPR1_HUMAN			2	452	-			62					B2R5C4|O60357|Q6FGG3	Silent	SNP	ENST00000324873.6	37	c.186C>T	CCDS10634.1																																																																																				0.622	NUPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254692.2	NM_012385		49	73	0	0	0	1	0	49	73				
ZNF184	7738	broad.mit.edu	37	6	27420425	27420425	+	Missense_Mutation	SNP	G	G	T			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr6:27420425G>T	ENST00000211936.6	-	6	1197	c.913C>A	c.(913-915)Cca>Aca	p.P305T	ZNF184_ENST00000377419.1_Missense_Mutation_p.P305T	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	305					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						CATTTATATGGTTTTTCTCCA	0.388																																						ENST00000211936.6																			0				breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(913-915)Cca>Aca		zinc finger protein 184							58.0	60.0	59.0					6																	27420425		2203	4300	6503	SO:0001583	missense	7738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27420425G>T	U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"""Zinc fingers, C2H2-type"", ""-"""	12975	protein-coding gene	gene with protein product		602277	"""zinc finger protein 184 (Kruppel-like)"""				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.913C>A	6.37:g.27420425G>T	ENSP00000211936:p.Pro305Thr					ZNF184_ENST00000377419.1_Missense_Mutation_p.P305T	p.P305T	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN			6	1197	-			305					B2R715|O60792|Q8TBA9	Missense_Mutation	SNP	ENST00000211936.6	37	c.913C>A	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.094384	0.56075	.	.	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087	T;T	0.16897	2.31;2.31	4.99	4.99	0.66335	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47093	D	0.000248	T	0.32823	0.0842	M	0.82323	2.585	0.41971	D	0.990757	D	0.89917	1.0	D	0.80764	0.994	T	0.13019	-1.0525	10	0.87932	D	0	.	9.2334	0.37450	0.0963:0.0:0.9037:0.0	.	305	Q99676	ZN184_HUMAN	T	305	ENSP00000211936:P305T;ENSP00000366636:P305T	ENSP00000211936:P305T	P	-	1	0	ZNF184	27528404	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.183000	0.77697	2.591000	0.87537	0.455000	0.32223	CCA		0.388	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149		6	67	1	0	0.00116845	1	0.00123076	6	67				
LOC645752	645752	broad.mit.edu	37	15	78212576	78212576	+	lincRNA	SNP	C	C	T			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr15:78212576C>T	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							GTCACGTGTGCGTTCAGCAGT	0.567																																						ENST00000565869.1																			0																																																			0							g.chr15:78212576C>T																													15.37:g.78212576C>T						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.567	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			4	35	0	0	0	1	0	4	35				
OSBPL6	114880	broad.mit.edu	37	2	179188942	179188942	+	Silent	SNP	C	C	T	rs139099797		TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr2:179188942C>T	ENST00000190611.4	+	4	517	c.141C>T	c.(139-141)acC>acT	p.T47T	OSBPL6_ENST00000359685.3_Silent_p.T47T|OSBPL6_ENST00000357080.4_Silent_p.T47T|OSBPL6_ENST00000477097.1_3'UTR|OSBPL6_ENST00000409045.3_Silent_p.T47T|OSBPL6_ENST00000315022.2_Silent_p.T26T|OSBPL6_ENST00000409631.1_Silent_p.T47T|OSBPL6_ENST00000392505.2_Silent_p.T47T	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	47					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			CCTCTAGCACCGAGCCCTCTG	0.488																																						ENST00000190611.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(139-141)acC>acT		oxysterol binding protein-like 6		C	,,,,	0,4406		0,0,2203	78.0	68.0	71.0		141,141,141,141,78	-11.9	0.2	2	dbSNP_134	71	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	OSBPL6	NM_001201480.1,NM_001201481.1,NM_001201482.1,NM_032523.3,NM_145739.2	,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,	47/960,47/904,47/899,47/935,26/939	179188942	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	114880				lipid transport		lipid binding	g.chr2:179188942C>T	AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"""Oxysterol binding proteins"""	16388	protein-coding gene	gene with protein product	"""OSBP-related protein 6"""	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.141C>T	2.37:g.179188942C>T						OSBPL6_ENST00000409631.1_Silent_p.T47T|OSBPL6_ENST00000409045.3_Silent_p.T47T|OSBPL6_ENST00000477097.1_3'UTR|OSBPL6_ENST00000357080.4_Silent_p.T47T|OSBPL6_ENST00000315022.2_Silent_p.T26T|OSBPL6_ENST00000392505.2_Silent_p.T47T|OSBPL6_ENST00000359685.3_Silent_p.T47T	p.T47T	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)		4	517	+			47					B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Silent	SNP	ENST00000190611.4	37	c.141C>T	CCDS2277.1																																																																																				0.488	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523		9	21	0	0	0	1	0	9	21				
CPD	1362	broad.mit.edu	37	17	28748781	28748781	+	Missense_Mutation	SNP	A	A	C			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr17:28748781A>C	ENST00000225719.4	+	4	1313	c.1237A>C	c.(1237-1239)Aca>Cca	p.T413P	CPD_ENST00000543464.2_Missense_Mutation_p.T166P	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	413	Carboxypeptidase-like 1.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metallocarboxypeptidase activity (GO:0004181)|serine-type carboxypeptidase activity (GO:0004185)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						TAATATCACAACAGGCAGATT	0.368																																						ENST00000225719.4																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						c.(1237-1239)Aca>Cca		carboxypeptidase D							148.0	143.0	145.0					17																	28748781		2203	4300	6503	SO:0001583	missense	1362				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding	g.chr17:28748781A>C	U65090	CCDS11257.1, CCDS56025.1	17q11.2	2012-02-10			ENSG00000108582	ENSG00000108582	3.4.17.22		2301	protein-coding gene	gene with protein product	"""metallocarboxypeptidase D"""	603102				9628828, 9355738	Standard	NM_001304		Approved	GP180	uc002hfb.2	O75976	OTTHUMG00000132797	ENST00000225719.4:c.1237A>C	17.37:g.28748781A>C	ENSP00000225719:p.Thr413Pro					CPD_ENST00000543464.2_Missense_Mutation_p.T166P	p.T413P	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN			4	1313	+			413			Carboxypeptidase-like 1.		B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Missense_Mutation	SNP	ENST00000225719.4	37	c.1237A>C	CCDS11257.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.205604	0.79127	.	.	ENSG00000108582	ENST00000225719;ENST00000543464	T;T	0.37584	1.19;1.19	6.07	6.07	0.98685	Peptidase M14, carboxypeptidase A (1);Carboxypeptidase-like, regulatory domain (1);Carboxypeptidase, regulatory domain (1);	0.248758	0.40908	D	0.000984	T	0.68751	0.3035	H	0.96489	3.83	0.52501	D	0.999955	D;D	0.64830	0.986;0.994	D;D	0.67231	0.914;0.95	T	0.77765	-0.2465	10	0.87932	D	0	.	10.0478	0.42197	0.9186:0.0:0.0814:0.0	.	166;413	F5GZH6;O75976	.;CBPD_HUMAN	P	413;166	ENSP00000225719:T413P;ENSP00000444443:T166P	ENSP00000225719:T413P	T	+	1	0	CPD	25772907	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.982000	0.76173	2.326000	0.78906	0.533000	0.62120	ACA		0.368	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256214.3	NM_001304		41	63	0	0	0	1	0	41	63				
BCAN	63827	broad.mit.edu	37	1	156618650	156618650	+	Nonsense_Mutation	SNP	C	C	T			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr1:156618650C>T	ENST00000329117.5	+	6	1396	c.1060C>T	c.(1060-1062)Cga>Tga	p.R354*	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Nonsense_Mutation_p.R354*	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	354	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTACTGCTTCCGAGGTGAGCC	0.557																																						ENST00000329117.4																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55						c.(1060-1062)Cga>Tga		brevican							72.0	74.0	74.0					1																	156618650		2202	4299	6501	SO:0001587	stop_gained	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156618650C>T	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.1060C>T	1.37:g.156618650C>T	ENSP00000331210:p.Arg354*					BCAN_ENST00000361588.5_Nonsense_Mutation_p.R354*|RP11-284F21.7_ENST00000448869.1_RNA	p.R354*	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN			6	1396	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		354			Link 2.		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Nonsense_Mutation	SNP	ENST00000329117.5	37	c.1060C>T	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	C	31	5.067820	0.93950	.	.	ENSG00000132692	ENST00000255029;ENST00000329117;ENST00000361588	.	.	.	4.72	-0.163	0.13363	.	0.104475	0.33631	N	0.004716	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.9409	13.4383	0.61096	0.6072:0.3928:0.0:0.0	.	.	.	.	X	295;354;354	.	ENSP00000255029:R295X	R	+	1	2	BCAN	154885274	0.907000	0.30839	1.000000	0.80357	0.993000	0.82548	0.022000	0.13511	0.143000	0.18926	0.462000	0.41574	CGA		0.557	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		9	74	0	0	0	1	0	9	74				
HDAC3	8841	broad.mit.edu	37	5	141005788	141005788	+	Missense_Mutation	SNP	T	T	G			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr5:141005788T>G	ENST00000305264.3	-	11	972	c.893A>C	c.(892-894)tAt>tCt	p.Y298S	HDAC3_ENST00000469207.1_5'Flank|AC008781.7_ENST00000422040.2_RNA	NM_003883.3	NP_003874.2	O15379	HDAC3_HUMAN	histone deacetylase 3	298	Histone deacetylase.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|protein deacetylation (GO:0006476)|regulation of mitotic cell cycle (GO:0007346)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|cyclin binding (GO:0030332)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	TCGGACAGTATAACCACCACC	0.512																																						ENST00000305264.3																			0				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13						c.(892-894)tAt>tCt		histone deacetylase 3	Vorinostat(DB02546)						155.0	118.0	131.0					5																	141005788		2203	4300	6503	SO:0001583	missense	8841				anti-apoptosis|cellular lipid metabolic process|negative regulation of cell cycle|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|spindle microtubule|transcriptional repressor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription corepressor activity|transcription factor binding	g.chr5:141005788T>G	AF059650	CCDS4264.1	5q31.1-q31.2	2008-07-18			ENSG00000171720	ENSG00000171720	3.5.1.98		4854	protein-coding gene	gene with protein product		605166				9501169, 9464271	Standard	NM_003883		Approved	RPD3, HD3, RPD3-2	uc003llf.2	O15379	OTTHUMG00000129629	ENST00000305264.3:c.893A>C	5.37:g.141005788T>G	ENSP00000302967:p.Tyr298Ser					AC008781.7_ENST00000422040.1_RNA	p.Y298S	NM_003883.3	NP_003874.2	O15379	HDAC3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		11	972	-			298			Histone deacetylase.		D3DQE1|O43268|Q9UEI5|Q9UEV0	Missense_Mutation	SNP	ENST00000305264.3	37	c.893A>C	CCDS4264.1	.	.	.	.	.	.	.	.	.	.	T	28.7	4.945874	0.92593	.	.	ENSG00000171720	ENST00000305264;ENST00000523353	D;D	0.91124	-2.79;-2.79	5.65	5.65	0.86999	Histone deacetylase domain (2);	0.000000	0.85682	D	0.000000	D	0.97244	0.9099	H	0.98218	4.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98660	1.0683	10	0.87932	D	0	-19.8183	15.6986	0.77521	0.0:0.0:0.0:1.0	.	298	O15379	HDAC3_HUMAN	S	298;107	ENSP00000302967:Y298S;ENSP00000430667:Y107S	ENSP00000302967:Y298S	Y	-	2	0	HDAC3	140985972	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.868000	0.87116	2.371000	0.80710	0.533000	0.62120	TAT		0.512	HDAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251824.2	NM_003883		15	24	0	0	0	1	0	15	24				
OR5C1	392391	broad.mit.edu	37	9	125551593	125551593	+	Missense_Mutation	SNP	G	G	A	rs373619805		TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr9:125551593G>A	ENST00000373680.2	+	1	444	c.382G>A	c.(382-384)Gtg>Atg	p.V128M		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	128						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						TGACCGCTACGTGGCCATCAG	0.562																																						ENST00000373680.2																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						c.(382-384)Gtg>Atg		olfactory receptor, family 5, subfamily C, member 1		G	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	137.0	129.0	132.0		382	1.5	0.4	9		132	0,8600		0,0,4300	no	missense	OR5C1	NM_001001923.1	21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	128/321	125551593	1,13005	2203	4300	6503	SO:0001583	missense	392391				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125551593G>A	AF399514	CCDS35131.1	9q34.2	2012-08-09			ENSG00000148215	ENSG00000148215		"""GPCR / Class A : Olfactory receptors"""	8331	protein-coding gene	gene with protein product				OR5C2P			Standard	NM_001001923		Approved	OR9-F, hRPK-465_F_21	uc011lzd.2	Q8NGR4	OTTHUMG00000020622	ENST00000373680.2:c.382G>A	9.37:g.125551593G>A	ENSP00000362784:p.Val128Met						p.V128M	NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN			1	444	+			128					B2RN54|B9EGT0|Q96RC4	Missense_Mutation	SNP	ENST00000373680.2	37	c.382G>A	CCDS35131.1	.	.	.	.	.	.	.	.	.	.	G	9.216	1.032262	0.19590	2.27E-4	0.0	ENSG00000148215	ENST00000373680	T	0.01455	4.87	5.33	1.54	0.23209	GPCR, rhodopsin-like superfamily (1);	0.250837	0.20538	U	0.090366	T	0.01835	0.0058	L	0.46670	1.46	0.22961	N	0.998507	B	0.25719	0.132	B	0.17722	0.019	T	0.44406	-0.9330	10	0.41790	T	0.15	.	5.8358	0.18607	0.2943:0.1313:0.5744:0.0	.	128	Q8NGR4	OR5C1_HUMAN	M	128	ENSP00000362784:V128M	ENSP00000362784:V128M	V	+	1	0	OR5C1	124591414	0.801000	0.28930	0.450000	0.26969	0.606000	0.37113	1.086000	0.30853	0.131000	0.18576	-0.732000	0.03574	GTG		0.562	OR5C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053953.1			7	95	0	0	0	1	0	7	95				
TIAM2	26230	broad.mit.edu	37	6	155500568	155500568	+	Silent	SNP	G	G	A	rs199773084		TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr6:155500568G>A	ENST00000461783.3	+	14	3958	c.2685G>A	c.(2683-2685)aaG>aaA	p.K895K	TIAM2_ENST00000456144.1_Silent_p.K895K|TIAM2_ENST00000528391.2_Silent_p.K231K|TIAM2_ENST00000367174.2_Silent_p.K271K|TIAM2_ENST00000456877.2_Silent_p.K207K|TIAM2_ENST00000318981.5_Silent_p.K895K|TIAM2_ENST00000360366.4_Silent_p.K919K|TIAM2_ENST00000529824.2_Silent_p.K895K			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	895	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AGCTCACGAAGACTGGGAGTG	0.413																																						ENST00000461783.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(2683-2685)aaG>aaA		T-cell lymphoma invasion and metastasis 2							283.0	276.0	279.0					6																	155500568		2203	4300	6503	SO:0001819	synonymous_variant	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155500568G>A		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.2685G>A	6.37:g.155500568G>A						TIAM2_ENST00000456877.2_Silent_p.K207K|TIAM2_ENST00000456144.1_Silent_p.K895K|TIAM2_ENST00000529824.2_Silent_p.K895K|TIAM2_ENST00000318981.5_Silent_p.K895K|TIAM2_ENST00000528391.2_Silent_p.K231K|TIAM2_ENST00000360366.4_Silent_p.K919K|TIAM2_ENST00000367174.2_Silent_p.K271K	p.K895K			Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	14	3958	+		Ovarian(120;0.196)	895			PDZ.		B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Silent	SNP	ENST00000461783.3	37	c.2685G>A	CCDS34558.1																																																																																				0.413	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		34	79	0	0	0	1	0	34	79				
BNC1	646	broad.mit.edu	37	15	83935780	83935780	+	Silent	SNP	C	C	T			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr15:83935780C>T	ENST00000345382.2	-	3	328	c.243G>A	c.(241-243)caG>caA	p.Q81Q	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Silent_p.Q74Q	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	81					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						CAATCTCCACCTGGCTTGTTG	0.443																																						ENST00000345382.2																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						c.(241-243)caG>caA		basonuclin 1							64.0	62.0	63.0					15																	83935780		2203	4300	6503	SO:0001819	synonymous_variant	646				epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:83935780C>T	L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"""Zinc fingers, C2H2-type"""	1081	protein-coding gene	gene with protein product		601930	"""basonuclin"""	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.243G>A	15.37:g.83935780C>T						BNC1_ENST00000569704.1_Silent_p.Q74Q|RP11-382A20.4_ENST00000565495.1_RNA	p.Q81Q	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN			3	328	-			81					Q15840	Silent	SNP	ENST00000345382.2	37	c.243G>A	CCDS10324.1																																																																																				0.443	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	NM_001717		5	41	0	0	0	1	0	5	41				
ANKRD36	375248	broad.mit.edu	37	2	97869931	97869931	+	Missense_Mutation	SNP	A	A	T	rs76309140		TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr2:97869931A>T	ENST00000461153.2	+	50	3236	c.2992A>T	c.(2992-2994)Aca>Tca	p.T998S	ANKRD36_ENST00000420699.2_Missense_Mutation_p.T998S			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	998								p.T998S(13)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CATTCAGGCTACAAGTGATGA	0.289																																						ENST00000420699.2																			13	Substitution - Missense(13)	p.T998S(13)	kidney(6)|endometrium(4)|prostate(3)	endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(2992-2994)Aca>Tca		ankyrin repeat domain 36							37.0	44.0	42.0					2																	97869931		692	1587	2279	SO:0001583	missense	375248							g.chr2:97869931A>T	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.2992A>T	2.37:g.97869931A>T	ENSP00000419530:p.Thr998Ser					ANKRD36_ENST00000461153.2_Missense_Mutation_p.T998S	p.T998S	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN			50	3236	+			998					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	ENST00000461153.2	37	c.2992A>T	CCDS54379.1	.	.	.	.	.	.	.	.	.	.	.	3.819	-0.038219	0.07497	.	.	ENSG00000135976	ENST00000461153;ENST00000420699;ENST00000461694	T;T	0.32753	1.44;1.44	0.63	-0.824	0.10812	.	.	.	.	.	T	0.14056	0.0340	L	0.27053	0.805	0.09310	N	1	P	0.40476	0.718	B	0.28849	0.095	T	0.12837	-1.0532	8	0.38643	T	0.18	.	.	.	.	.	998	A6QL64	AN36A_HUMAN	S	998;998;360	ENSP00000419530:T998S;ENSP00000391950:T998S	ENSP00000391950:T998S	T	+	1	0	ANKRD36	97233658	0.019000	0.18553	0.011000	0.14972	0.022000	0.10575	-0.850000	0.04317	-0.324000	0.08589	0.147000	0.16070	ACA		0.289	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			3	35	0	0	0	1	0	3	35				
SAMD9L	219285	broad.mit.edu	37	7	92761817	92761817	+	Silent	SNP	C	C	T	rs202124049		TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr7:92761817C>T	ENST00000318238.4	-	5	4684	c.3468G>A	c.(3466-3468)gcG>gcA	p.A1156A	SAMD9L_ENST00000411955.1_Silent_p.A1156A|SAMD9L_ENST00000437805.1_Silent_p.A1156A	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1156					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AGGCTTTTTCCGCAGCTTCTA	0.413																																						ENST00000318238.4																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88						c.(3466-3468)gcG>gcA		sterile alpha motif domain containing 9-like							131.0	137.0	135.0					7																	92761817		2203	4300	6503	SO:0001819	synonymous_variant	219285							g.chr7:92761817C>T	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.3468G>A	7.37:g.92761817C>T						SAMD9L_ENST00000411955.1_Silent_p.A1156A|SAMD9L_ENST00000437805.1_Silent_p.A1156A	p.A1156A	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	4684	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		1156					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Silent	SNP	ENST00000318238.4	37	c.3468G>A	CCDS34681.1																																																																																				0.413	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		86	156	0	0	0	1	0	86	156				
SOGA1	140710	broad.mit.edu	37	20	35425294	35425294	+	Missense_Mutation	SNP	C	C	G			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr20:35425294C>G	ENST00000357779.3	-	13	3085	c.2759G>C	c.(2758-2760)gGt>gCt	p.G920A	SOGA1_ENST00000456801.2_Missense_Mutation_p.G761A|SOGA1_ENST00000279034.6_Missense_Mutation_p.G920A|SOGA1_ENST00000237536.4_Missense_Mutation_p.G1158A			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	920					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						CCTCTTTAAACCATTTCCTCC	0.582																																						ENST00000237536.4																			0				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						c.(3472-3474)gGt>gCt		suppressor of glucose, autophagy associated 1							110.0	119.0	116.0					20																	35425294		2128	4233	6361	SO:0001583	missense	140710							g.chr20:35425294C>G	AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"""suppressor of glucose by autophagy"", ""suppressor of glucose from autophagy"""		"""chromosome 20 open reading frame 117"", ""KIAA0889"""	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.2759G>C	20.37:g.35425294C>G	ENSP00000350424:p.Gly920Ala					SOGA1_ENST00000279034.5_Missense_Mutation_p.G920A|SOGA1_ENST00000357779.3_Missense_Mutation_p.G920A|SOGA1_ENST00000456801.2_Missense_Mutation_p.G761A	p.G1158A	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN			13	3814	-			920					A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Missense_Mutation	SNP	ENST00000357779.3	37	c.3473G>C		.	.	.	.	.	.	.	.	.	.	C	3.560	-0.089841	0.07053	.	.	ENSG00000149639	ENST00000237536;ENST00000279034;ENST00000456801;ENST00000357779	T;T;T;T	0.39056	1.1;1.1;1.1;1.1	5.15	3.07	0.35406	.	0.919519	0.09398	N	0.807598	T	0.18964	0.0455	N	0.04880	-0.145	0.26506	N	0.974681	B	0.02656	0.0	B	0.06405	0.002	T	0.25187	-1.0139	10	0.16420	T	0.52	-16.3361	4.4448	0.11591	0.0:0.5947:0.2527:0.1526	.	920	O94964-4	.	A	1158;920;761;920	ENSP00000237536:G1158A;ENSP00000279034:G920A;ENSP00000413886:G761A;ENSP00000350424:G920A	ENSP00000237536:G1158A	G	-	2	0	KIAA0889	34858708	0.152000	0.22762	0.534000	0.28014	0.058000	0.15608	0.458000	0.21892	1.385000	0.46445	0.561000	0.74099	GGT		0.582	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181		11	43	0	0	0	1	0	11	43				
RETSAT	54884	broad.mit.edu	37	2	85578964	85578964	+	Missense_Mutation	SNP	G	G	A	rs151321935		TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr2:85578964G>A	ENST00000295802.4	-	2	306	c.194C>T	c.(193-195)cCg>cTg	p.P65L	ELMOD3_ENST00000409890.2_5'Flank|RETSAT_ENST00000263854.6_Missense_Mutation_p.P65L|ELMOD3_ENST00000393852.4_5'Flank|ELMOD3_ENST00000428955.2_5'Flank|RETSAT_ENST00000457495.2_Intron|ELMOD3_ENST00000315658.7_5'Flank|ELMOD3_ENST00000409344.3_5'Flank|ELMOD3_ENST00000409013.3_5'Flank	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	65					oxidation-reduction process (GO:0055114)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	all-trans-retinol 13,14-reductase activity (GO:0051786)|oxidoreductase activity (GO:0016491)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	CAGCTTCTCCGGCACTTGGTT	0.532													G|||	1	0.000199681	0.0	0.0	5008	,	,		18528	0.0		0.0	False		,,,				2504	0.001					ENST00000295802.4																			0				NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30						c.(193-195)cCg>cTg		retinol saturase (all-trans-retinol 13,14-reductase)	Vitamin A(DB00162)	G	LEU/PRO	0,4406		0,0,2203	56.0	56.0	56.0		194	5.4	1.0	2	dbSNP_134	56	2,8598	2.2+/-6.3	0,2,4298	no	missense	RETSAT	NM_017750.3	98	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	65/611	85578964	2,13004	2203	4300	6503	SO:0001583	missense	54884				retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity	g.chr2:85578964G>A	AK075261	CCDS1972.1	2p11.2	2008-02-05			ENSG00000042445	ENSG00000042445	1.3.99.23		25991	protein-coding gene	gene with protein product						12975309, 15358783	Standard	NM_017750		Approved	FLJ20296	uc002spd.3	Q6NUM9	OTTHUMG00000154611	ENST00000295802.4:c.194C>T	2.37:g.85578964G>A	ENSP00000295802:p.Pro65Leu					RETSAT_ENST00000263854.6_Missense_Mutation_p.P65L|RETSAT_ENST00000457495.2_Intron	p.P65L	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN			2	306	-			65					A6NIK3|Q53R95|Q53SA9|Q6UX05|Q8N2H5|Q96FA4|Q9NXE5	Missense_Mutation	SNP	ENST00000295802.4	37	c.194C>T	CCDS1972.1	.	.	.	.	.	.	.	.	.	.	G	31	5.067338	0.93898	0.0	2.33E-4	ENSG00000042445	ENST00000295802;ENST00000263854	T;T	0.61627	0.09;0.09	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.73329	0.3573	M	0.83953	2.67	0.80722	D	1	D	0.67145	0.996	P	0.55303	0.773	T	0.78303	-0.2256	10	0.72032	D	0.01	-9.6653	16.7234	0.85416	0.0:0.0:1.0:0.0	.	65	Q6NUM9	RETST_HUMAN	L	65	ENSP00000295802:P65L;ENSP00000263854:P65L	ENSP00000263854:P65L	P	-	2	0	RETSAT	85432475	1.000000	0.71417	0.996000	0.52242	0.901000	0.52897	9.611000	0.98342	2.559000	0.86315	0.650000	0.86243	CCG		0.532	RETSAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252489.1	NM_017750		28	31	0	0	0	1	0	28	31				
PHF2	5253	broad.mit.edu	37	9	96418836	96418836	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr9:96418836C>T	ENST00000359246.4	+	9	1473	c.1106C>T	c.(1105-1107)gCg>gTg	p.A369V	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	369					liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		TTTGAAACTGCGTGCTGGTAC	0.562																																						ENST00000359246.4																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(1105-1107)gCg>gTg		PHD finger protein 2							131.0	142.0	138.0					9																	96418836		2203	4300	6503	SO:0001583	missense	5253				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr9:96418836C>T	AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	8920	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1E"", ""centromere protein 35"""	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.1106C>T	9.37:g.96418836C>T	ENSP00000352185:p.Ala369Val					PHF2_ENST00000375376.4_Intron	p.A369V	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)	9	1473	+		Myeloproliferative disorder(762;0.0255)	369					Q4VXG0|Q8N3K2|Q9Y6N4	Missense_Mutation	SNP	ENST00000359246.4	37	c.1106C>T	CCDS35069.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.979042	0.74360	.	.	ENSG00000197724	ENST00000359246	T	0.37752	1.18	4.47	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.43500	0.1250	L	0.39898	1.24	0.80722	D	1	D	0.89917	1.0	P	0.54210	0.745	T	0.26643	-1.0097	10	0.35671	T	0.21	-30.6001	17.3192	0.87232	0.0:1.0:0.0:0.0	.	369	O75151	PHF2_HUMAN	V	369	ENSP00000352185:A369V	ENSP00000352185:A369V	A	+	2	0	PHF2	95458657	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	4.748000	0.62148	2.300000	0.77407	0.305000	0.20034	GCG		0.562	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053162.1	NM_005392		35	26	0	0	0	1	0	35	26				
ZC3H13	23091	broad.mit.edu	37	13	46549634	46549634	+	Missense_Mutation	SNP	C	C	T	rs528381815		TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr13:46549634C>T	ENST00000242848.4	-	12	2600	c.2252G>A	c.(2251-2253)cGa>cAa	p.R751Q	ZC3H13_ENST00000282007.3_Missense_Mutation_p.R751Q			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	751	Arg/Glu-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		ttctctttctcgttcccgttc	0.512													C|||	1	0.000199681	0.0	0.0	5008	,	,		20474	0.001		0.0	False		,,,				2504	0.0				Esophageal Squamous(187;747 2077 11056 31291 44172)	ENST00000242848.4																			0				cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79						c.(2251-2253)cGa>cAa		zinc finger CCCH-type containing 13							173.0	140.0	151.0					13																	46549634		2203	4298	6501	SO:0001583	missense	23091						nucleic acid binding|zinc ion binding	g.chr13:46549634C>T	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.2252G>A	13.37:g.46549634C>T	ENSP00000242848:p.Arg751Gln					ZC3H13_ENST00000282007.3_Missense_Mutation_p.R751Q	p.R751Q			Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	12	2600	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	751			Arg/Glu-rich.		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	ENST00000242848.4	37	c.2252G>A		.	.	.	.	.	.	.	.	.	.	C	15.37	2.813931	0.50527	.	.	ENSG00000123200	ENST00000242848;ENST00000282007	T;T	0.38887	2.09;1.11	5.19	5.19	0.71726	.	0.000000	0.45606	D	0.000357	T	0.61751	0.2372	.	.	.	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.75484	0.968;0.986	T	0.55270	-0.8167	9	0.24483	T	0.36	.	18.6794	0.91541	0.0:1.0:0.0:0.0	.	751;751	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	Q	751	ENSP00000242848:R751Q;ENSP00000282007:R751Q	ENSP00000242848:R751Q	R	-	2	0	ZC3H13	45447635	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	6.086000	0.71352	2.567000	0.86603	0.557000	0.71058	CGA		0.512	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		9	23	0	0	0	1	0	9	23				
PIGH	5283	broad.mit.edu	37	14	68066841	68066841	+	Missense_Mutation	SNP	C	C	G			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr14:68066841C>G	ENST00000216452.4	-	1	163	c.80G>C	c.(79-81)cGg>cCg	p.R27P	PIGH_ENST00000559581.1_Missense_Mutation_p.R27P|PIGH_ENST00000560722.1_Missense_Mutation_p.R27P	NM_004569.3	NP_004560.1	Q14442	PIGH_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class H	27					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)	catalytic activity (GO:0003824)|phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4				all cancers(60;0.000592)|OV - Ovarian serous cystadenocarcinoma(108;0.00395)|BRCA - Breast invasive adenocarcinoma(234;0.00933)		GCAGAATTCCCGGCAGGACGG	0.687											OREG0022750	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000216452.4																			0				endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.(79-81)cGg>cCg		phosphatidylinositol glycan anchor biosynthesis, class H							13.0	15.0	15.0					14																	68066841		2181	4284	6465	SO:0001583	missense	5283				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|mitochondrion|nucleolus	phosphatidylinositol N-acetylglucosaminyltransferase activity	g.chr14:68066841C>G		CCDS9784.1	14q24.1	2013-02-26	2006-06-28		ENSG00000100564	ENSG00000100564	2.4.1.198	"""Phosphatidylinositol glycan anchor biosynthesis"""	8964	protein-coding gene	gene with protein product	"""phosphatidylinositol N-acetylglucosaminyltransferase subunit"""	600154	"""phosphatidylinositol glycan, class H"""			8204896	Standard	NM_004569		Approved	GPI-H	uc001xjr.1	Q14442	OTTHUMG00000171806	ENST00000216452.4:c.80G>C	14.37:g.68066841C>G	ENSP00000216452:p.Arg27Pro		OREG0022750	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1104	PIGH_ENST00000560722.1_Missense_Mutation_p.R27P|PIGH_ENST00000559581.1_Missense_Mutation_p.R27P	p.R27P	NM_004569.3	NP_004560.1	Q14442	PIGH_HUMAN		all cancers(60;0.000592)|OV - Ovarian serous cystadenocarcinoma(108;0.00395)|BRCA - Breast invasive adenocarcinoma(234;0.00933)	1	163	-			27					B2RAA4	Missense_Mutation	SNP	ENST00000216452.4	37	c.80G>C	CCDS9784.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.668595	0.88348	.	.	ENSG00000100564	ENST00000216452	.	.	.	4.74	3.83	0.44106	.	0.125359	0.52532	D	0.000065	T	0.65512	0.2698	L	0.32530	0.975	0.53005	D	0.999969	P;D	0.76494	0.948;0.999	P;D	0.85130	0.63;0.997	T	0.66846	-0.5820	9	0.49607	T	0.09	.	14.3139	0.66434	0.1578:0.8422:0.0:0.0	.	27;27	B4DEE2;Q14442	.;PIGH_HUMAN	P	27	.	ENSP00000216452:R27P	R	-	2	0	PIGH	67136594	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.156000	0.50708	1.166000	0.42689	0.462000	0.41574	CGG		0.687	PIGH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000415189.2	NM_004569		4	7	0	0	0	1	0	4	7				
ZFP64	55734	broad.mit.edu	37	20	50803477	50803477	+	Silent	SNP	G	G	A	rs202197689	byFrequency	TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr20:50803477G>A	ENST00000216923.4	-	2	529	c.180C>T	c.(178-180)tcC>tcT	p.S60S	ZFP64_ENST00000361387.2_Silent_p.S60S|ZFP64_ENST00000371515.4_Silent_p.S58S|ZFP64_ENST00000371518.2_Silent_p.S60S|ZFP64_ENST00000346617.4_Silent_p.S60S	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	60					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GGGCTGCTGCGGATGTGCCTG	0.567													G|||	2	0.000399361	0.0015	0.0	5008	,	,		17226	0.0		0.0	False		,,,				2504	0.0					ENST00000216923.4																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(178-180)tcC>tcT		ZFP64 zinc finger protein		G	,,,	2,4404	4.2+/-10.8	0,2,2201	103.0	89.0	94.0		180,180,174,180	-10.9	0.0	20		94	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ZFP64	NM_018197.2,NM_022088.4,NM_199426.1,NM_199427.2	,,,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,,,	60/682,60/628,58/680,60/646	50803477	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	55734				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50803477G>A	AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"""Zinc fingers, C2H2-type"""	15940	protein-coding gene	gene with protein product			"""zinc finger protein 338"", ""zinc finger protein 64 homolog (mouse)"", ""zinc finger protein 64"""	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000216923.4:c.180C>T	20.37:g.50803477G>A						ZFP64_ENST00000371518.2_Silent_p.S60S|ZFP64_ENST00000361387.2_Silent_p.S60S|ZFP64_ENST00000371515.4_Silent_p.S58S|ZFP64_ENST00000346617.4_Silent_p.S60S	p.S60S	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN			2	529	-			60					Q9NTS7|Q9NVH4	Silent	SNP	ENST00000216923.4	37	c.180C>T	CCDS13440.1																																																																																				0.567	ZFP64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079744.1	NM_018197		5	54	0	0	0	1	0	5	54				
RBM11	54033	broad.mit.edu	37	21	15592040	15592040	+	Nonsense_Mutation	SNP	C	C	T			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr21:15592040C>T	ENST00000400577.3	+	2	262	c.253C>T	c.(253-255)Cga>Tga	p.R85*	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	85	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(U) RNA binding (GO:0008266)|protein homodimerization activity (GO:0042803)			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		CGTGCAGTATCGATTTGGTAG	0.373																																						ENST00000400577.3																			0				endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(253-255)Cga>Tga		RNA binding motif protein 11							91.0	82.0	85.0					21																	15592040		1568	3582	5150	SO:0001587	stop_gained	54033						nucleotide binding|RNA binding	g.chr21:15592040C>T	AF130358	CCDS46635.1	21q11	2013-02-12			ENSG00000185272	ENSG00000185272		"""RNA binding motif (RRM) containing"""	9897	protein-coding gene	gene with protein product						12036298	Standard	NM_144770		Approved		uc002yjo.4	P57052	OTTHUMG00000074263	ENST00000400577.3:c.253C>T	21.37:g.15592040C>T	ENSP00000383421:p.Arg85*					RBM11_ENST00000468643.1_3'UTR	p.R85*	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN		Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)	2	262	+			85			RRM.		Q6YNC2|Q8NBA1|Q8NFF6	Nonsense_Mutation	SNP	ENST00000400577.3	37	c.253C>T	CCDS46635.1	.	.	.	.	.	.	.	.	.	.	C	33	5.197580	0.94997	.	.	ENSG00000185272	ENST00000400577	.	.	.	5.29	4.36	0.52297	.	0.126326	0.35495	N	0.003163	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	-16.0949	15.5919	0.76537	0.1377:0.8623:0.0:0.0	.	.	.	.	X	85	.	ENSP00000383421:R85X	R	+	1	2	RBM11	14513911	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.592000	0.46171	2.661000	0.90470	0.655000	0.94253	CGA		0.373	RBM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157818.1	NM_144770		3	13	0	0	0	1	0	3	13				
HDGFRP2	84717	broad.mit.edu	37	19	4491627	4491627	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr19:4491627C>T	ENST00000301284.4	+	5	618	c.554C>T	c.(553-555)tCc>tTc	p.S185F	HDGFRP2_ENST00000586684.1_Missense_Mutation_p.S185F	NM_001001520.1|NM_032631.2	NP_001001520|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		185	Ser-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										GTGTCCCCATCCGAAGAGGAG	0.617																																						ENST00000301284.4																			0											c.(553-555)tCc>tTc									54.0	62.0	59.0					19																	4491627		2013	4150	6163	SO:0001583	missense	0				transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:4491627C>T																												ENST00000301284.4:c.554C>T	19.37:g.4491627C>T	ENSP00000301284:p.Ser185Phe					HDGFRP2_ENST00000586684.1_Missense_Mutation_p.S185F	p.S185F	NM_001001520.1|NM_032631.2	NP_001001520.1|NP_116020.1	Q7Z4V5	HDGR2_HUMAN			5	618	+			185			Ser-rich.		I3L080|K7EQZ6|Q96GI5|Q9BW08	Missense_Mutation	SNP	ENST00000301284.4	37	c.554C>T	CCDS42472.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.309869	0.60414	.	.	ENSG00000167674	ENST00000301284;ENST00000398364	T	0.52057	0.68	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.57592	0.2064	M	0.63843	1.955	0.20703	N	0.999861	D;D	0.61697	0.99;0.99	P;P	0.53313	0.723;0.723	T	0.56263	-0.8008	10	0.72032	D	0.01	.	14.6729	0.68958	0.0:1.0:0.0:0.0	.	185;185	C9JEE1;Q7Z4V5	.;HDGR2_HUMAN	F	185;171	ENSP00000301284:S185F	ENSP00000301284:S185F	S	+	2	0	AC011498.1	4442627	0.937000	0.31787	0.039000	0.18376	0.830000	0.47004	4.868000	0.63021	2.219000	0.72066	0.555000	0.69702	TCC		0.617	HDGFRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458642.1			9	52	0	0	0	1	0	9	52				
MYO16	23026	broad.mit.edu	37	13	109793599	109793599	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr13:109793599C>T	ENST00000357550.2	+	31	5014	c.4973C>T	c.(4972-4974)gCg>gTg	p.A1658V	MYO16_ENST00000356711.2_Missense_Mutation_p.A1658V	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TCGCCCCCCGCGCCCTACAGC	0.701																																						ENST00000356711.2																			0				NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121						c.(4972-4974)gCg>gTg		myosin XVI																																				SO:0001583	missense	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109793599C>T		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.4973C>T	13.37:g.109793599C>T	ENSP00000350160:p.Ala1658Val					MYO16_ENST00000357550.2_Missense_Mutation_p.A1658V	p.A1658V	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		32	5099	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		1658			Pro-rich.			Missense_Mutation	SNP	ENST00000357550.2	37	c.4973C>T	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.535402	0.27475	.	.	ENSG00000041515	ENST00000356711;ENST00000357550	T;T	0.39787	1.06;1.06	5.26	-1.57	0.08506	.	2.762460	0.02475	N	0.087978	T	0.20577	0.0495	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12243	-1.0555	9	.	.	.	.	6.5903	0.22644	0.0:0.1913:0.3258:0.4829	.	1658	Q9Y6X6	MYO16_HUMAN	V	1658	ENSP00000349145:A1658V;ENSP00000350160:A1658V	.	A	+	2	0	MYO16	108591600	0.002000	0.14202	0.000000	0.03702	0.017000	0.09413	0.827000	0.27421	-0.580000	0.05944	0.467000	0.42956	GCG		0.701	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		5	9	0	0	0	1	0	5	9				
ADAD2	161931	broad.mit.edu	37	16	84229837	84229837	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr16:84229837G>A	ENST00000315906.5	+	8	1439	c.1387G>A	c.(1387-1389)Gcc>Acc	p.A463T	RP11-486L19.2_ENST00000561900.1_RNA|RP11-486L19.2_ENST00000536986.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA|ADAD2_ENST00000268624.3_Missense_Mutation_p.A545T	NM_001145400.1	NP_001138872.1	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	463	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				RNA processing (GO:0006396)		adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)	p.A545T(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						CGTCCGGACCGCCCTGCACCT	0.697																																						ENST00000268624.3																			1	Substitution - Missense(1)	p.A545T(1)	prostate(1)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						c.(1633-1635)Gcc>Acc		adenosine deaminase domain containing 2							52.0	59.0	57.0					16																	84229837		2200	4299	6499	SO:0001583	missense	161931				RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding	g.chr16:84229837G>A	AF447586	CCDS10944.1, CCDS45536.1	16q24.1	2007-05-31			ENSG00000140955	ENSG00000140955			30714	protein-coding gene	gene with protein product							Standard	NM_139174		Approved	TENRL, FLJ00337	uc002fhr.2	Q8NCV1	OTTHUMG00000137637	ENST00000315906.5:c.1387G>A	16.37:g.84229837G>A	ENSP00000325153:p.Ala463Thr					RP11-486L19.2_ENST00000536986.1_RNA|ADAD2_ENST00000315906.5_Missense_Mutation_p.A463T|RP11-486L19.2_ENST00000569834.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA	p.A545T	NM_139174.3	NP_631913.3	Q8NCV1	ADAD2_HUMAN			9	1726	+			463			A to I editase.		B2RCL6|Q8NA94	Missense_Mutation	SNP	ENST00000315906.5	37	c.1633G>A	CCDS45536.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.995702	0.00435	.	.	ENSG00000140955	ENST00000315906;ENST00000268624	D;D	0.93189	-3.18;-3.18	5.02	2.35	0.29111	Adenosine deaminase/editase (2);	0.705056	0.14154	N	0.337807	T	0.74786	0.3762	N	0.00885	-1.115	0.09310	N	1	B;B	0.14805	0.001;0.011	B;B	0.04013	0.001;0.001	T	0.66567	-0.5891	10	0.15499	T	0.54	-12.9939	4.6917	0.12785	0.6436:0.2496:0.1067:0.0	.	463;545	Q8NCV1;Q8NCV1-2	ADAD2_HUMAN;.	T	463;545	ENSP00000325153:A463T;ENSP00000268624:A545T	ENSP00000268624:A545T	A	+	1	0	ADAD2	82787338	0.001000	0.12720	0.009000	0.14445	0.072000	0.16883	1.099000	0.31013	0.854000	0.35336	-0.459000	0.05422	GCC		0.697	ADAD2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433385.1	NM_139174		11	66	0	0	0	1	0	11	66				
CD207	50489	broad.mit.edu	37	2	71058207	71058207	+	Nonsense_Mutation	SNP	G	G	A	rs370350846		TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr2:71058207G>A	ENST00000410009.3	-	6	1006	c.961C>T	c.(961-963)Cga>Tga	p.R321*		NM_015717.3	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	321					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|defense response to virus (GO:0051607)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						ACATAGGGTCGCTTACAAATG	0.478																																						ENST00000410009.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						c.(961-963)Cga>Tga		CD207 molecule, langerin		G	stop/ARG	2,3876		0,2,1937	101.0	94.0	96.0		961	1.8	0.1	2		96	0,8274		0,0,4137	no	stop-gained	CD207	NM_015717.3		0,2,6074	AA,AG,GG		0.0,0.0516,0.0165		321/329	71058207	2,12150	1939	4137	6076	SO:0001587	stop_gained	50489				defense response to virus	endocytic vesicle|integral to membrane	mannose binding	g.chr2:71058207G>A	AJ242859	CCDS74520.1	2p13	2011-08-30	2006-03-28		ENSG00000116031	ENSG00000116031		"""C-type lectin domain containing"", ""CD molecules"""	17935	protein-coding gene	gene with protein product		604862	"""CD207 antigen, langerin"""			10661407, 9847074	Standard	NM_015717		Approved	Langerin, CLEC4K	uc002shg.3	Q9UJ71	OTTHUMG00000153176	ENST00000410009.3:c.961C>T	2.37:g.71058207G>A	ENSP00000386378:p.Arg321*						p.R321*	NM_015717.3	NP_056532.3	Q9UJ71	CLC4K_HUMAN			6	1006	-			321						Nonsense_Mutation	SNP	ENST00000410009.3	37	c.961C>T		.	.	.	.	.	.	.	.	.	.	G	17.25	3.341387	0.60963	5.16E-4	0.0	ENSG00000116031	ENST00000410009	.	.	.	3.79	1.81	0.25067	.	0.799060	0.10639	N	0.651214	.	.	.	.	.	.	0.35469	D	0.797166	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	8.2683	0.31829	0.0:0.0:0.5478:0.4522	.	.	.	.	X	321	.	ENSP00000386378:R321X	R	-	1	2	CD207	70911715	0.202000	0.23423	0.081000	0.20488	0.118000	0.20060	0.149000	0.16243	0.483000	0.27608	0.643000	0.83706	CGA		0.478	CD207-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000329959.4	NM_015717		5	25	0	0	0	1	0	5	25				
MYLK	4638	broad.mit.edu	37	3	123452701	123452701	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr3:123452701G>A	ENST00000475616.1	-	7	1141	c.1142C>T	c.(1141-1143)aCc>aTc	p.T381I	MYLK_ENST00000359169.1_Missense_Mutation_p.T381I|MYLK_ENST00000360304.3_Missense_Mutation_p.T381I|MYLK_ENST00000346322.5_Missense_Mutation_p.T381I|MYLK_ENST00000360772.3_Missense_Mutation_p.T381I			Q15746	MYLK_HUMAN	myosin light chain kinase	381					actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GGTGGGGAAGGTGGCTGGACG	0.622																																						ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(1141-1143)aCc>aTc		myosin light chain kinase							73.0	76.0	75.0					3																	123452701		2203	4300	6503	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123452701G>A	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.1142C>T	3.37:g.123452701G>A	ENSP00000418335:p.Thr381Ile					MYLK_ENST00000346322.5_Missense_Mutation_p.T381I|MYLK_ENST00000475616.1_Missense_Mutation_p.T381I|MYLK_ENST00000360304.3_Missense_Mutation_p.T381I|MYLK_ENST00000359169.1_Missense_Mutation_p.T381I	p.T381I			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	11	1520	-		Lung NSC(201;0.0496)	381					B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.1142C>T	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.260608	0.59431	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.68025	-0.3;-0.23;-0.3;-0.29;-0.23	5.43	3.54	0.40534	.	.	.	.	.	T	0.67942	0.2947	L	0.32530	0.975	0.18873	N	0.999983	D;B;D;B;P	0.67145	0.996;0.275;0.996;0.13;0.722	D;B;D;B;B	0.63703	0.917;0.075;0.917;0.075;0.231	T	0.55579	-0.8119	9	0.22109	T	0.4	.	10.1571	0.42829	0.0:0.1473:0.6999:0.1528	.	381;381;381;381;381	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	I	381	ENSP00000354004:T381I;ENSP00000353452:T381I;ENSP00000352088:T381I;ENSP00000320622:T381I;ENSP00000418335:T381I	ENSP00000320622:T381I	T	-	2	0	MYLK	124935391	0.002000	0.14202	0.010000	0.14722	0.038000	0.13279	1.249000	0.32839	1.503000	0.48686	0.655000	0.94253	ACC		0.622	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		5	74	0	0	0	1	0	5	74				
PPEF2	5470	broad.mit.edu	37	4	76811139	76811139	+	Missense_Mutation	SNP	C	C	A			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr4:76811139C>A	ENST00000286719.7	-	5	744	c.388G>T	c.(388-390)Gcc>Tcc	p.A130S	PPEF2_ENST00000510607.1_5'Flank	NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	130	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TCTACCAGGGCAGTTGCATGG	0.527																																					NSCLC(105;1359 1603 15961 44567 47947)	ENST00000286719.7																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						c.(388-390)Gcc>Tcc		protein phosphatase, EF-hand calcium binding domain 2							217.0	193.0	202.0					4																	76811139		2203	4300	6503	SO:0001583	missense	5470				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	g.chr4:76811139C>A	AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9244	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, beta isozyme"""	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.388G>T	4.37:g.76811139C>A	ENSP00000286719:p.Ala130Ser						p.A130S	NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		5	744	-			130			Catalytic.		O14831	Missense_Mutation	SNP	ENST00000286719.7	37	c.388G>T	CCDS34013.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.115689	0.77323	.	.	ENSG00000156194	ENST00000286719;ENST00000337500	T	0.42513	0.97	4.8	4.8	0.61643	Serine/threonine phosphatase, PPP5 (1);	0.269740	0.37809	N	0.001922	T	0.61739	0.2371	M	0.75447	2.3	0.50313	D	0.999869	D;D	0.89917	0.981;1.0	P;D	0.87578	0.813;0.998	T	0.58934	-0.7548	10	0.15499	T	0.54	-3.4223	15.3613	0.74478	0.0:1.0:0.0:0.0	.	130;130	O14830-2;O14830	.;PPE2_HUMAN	S	130	ENSP00000286719:A130S	ENSP00000286719:A130S	A	-	1	0	PPEF2	77030163	1.000000	0.71417	1.000000	0.80357	0.664000	0.39144	4.259000	0.58828	2.227000	0.72691	0.313000	0.20887	GCC		0.527	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362929.1	NM_006239		7	120	1	0	8.12818e-05	1	8.91842e-05	7	120				
DSCAML1	57453	broad.mit.edu	37	11	117310071	117310071	+	Missense_Mutation	SNP	G	G	C			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr11:117310071G>C	ENST00000321322.6	-	23	4236	c.4235C>G	c.(4234-4236)gCa>gGa	p.A1412G	DSCAML1_ENST00000527706.1_Missense_Mutation_p.A1142G	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1352	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		AGCCTTCACTGCACGCAGCAG	0.602																																						ENST00000321322.6																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(4234-4236)gCa>gGa		Down syndrome cell adhesion molecule like 1							118.0	100.0	106.0					11																	117310071		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117310071G>C		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.4235C>G	11.37:g.117310071G>C	ENSP00000315465:p.Ala1412Gly					DSCAML1_ENST00000527706.1_Missense_Mutation_p.A1142G	p.A1412G	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	23	4236	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1352			Fibronectin type-III 5.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.4235C>G	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.406488	0.42715	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.26373	1.74;1.74	4.76	4.76	0.60689	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.19604	0.0471	N	0.10685	0.025	0.53005	D	0.999964	B	0.26547	0.152	B	0.36766	0.232	T	0.15694	-1.0428	9	0.30854	T	0.27	.	17.9645	0.89096	0.0:0.0:1.0:0.0	.	1352	Q8TD84	DSCL1_HUMAN	G	1142;1412;1119	ENSP00000434335:A1142G;ENSP00000315465:A1412G	ENSP00000315465:A1412G	A	-	2	0	DSCAML1	116815281	1.000000	0.71417	0.107000	0.21349	0.186000	0.23388	7.831000	0.86748	2.480000	0.83734	0.462000	0.41574	GCA		0.602	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		24	30	0	0	0	1	0	24	30				
LAMA2	3908	broad.mit.edu	37	6	129371234	129371234	+	Splice_Site	SNP	G	G	A	rs200288072		TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr6:129371234G>A	ENST00000421865.2	+	2	332		c.e2+1			NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AATCCAAACCGTATGTATTTT	0.443																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.e2+1		laminin, alpha 2							135.0	114.0	121.0					6																	129371234		2203	4300	6503	SO:0001630	splice_region_variant	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129371234G>A	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.283+1G>A	6.37:g.129371234G>A								NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	2	332	+								Q14736|Q5VUM2|Q93022	Splice_Site	SNP	ENST00000421865.2	37		CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.165753	0.78339	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9655	0.92694	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LAMA2	129412927	1.000000	0.71417	0.998000	0.56505	0.756000	0.42949	8.423000	0.90264	2.483000	0.83821	0.462000	0.41574	.		0.443	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1		Intron	13	23	0	0	0	1	0	13	23				
PCDH11Y	83259	broad.mit.edu	37	Y	4925456	4925456	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chrY:4925456C>T	ENST00000333703.4	+	4	1072	c.559C>T	c.(559-561)Cct>Tct	p.P187S	PCDH11Y_ENST00000362095.5_Missense_Mutation_p.P198S|PCDH11Y_ENST00000215473.6_Missense_Mutation_p.P198S	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	198	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GGCTGTTGATCCTGACGTAGG	0.348																																						ENST00000333703.4																			0				autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(559-561)Cct>Tct		protocadherin 11 Y-linked																																				SO:0001583	missense	83259				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrY:4925456C>T	AF332217	CCDS14776.1, CCDS14777.1, CCDS76066.1	Yp11.2	2010-01-26	2002-05-22	2002-05-24	ENSG00000099715	ENSG00000099715		"""Cadherins / Protocadherins : Non-clustered"""	15813	protein-coding gene	gene with protein product		400022	"""protocadherin 22"""	PCDH22		10644456, 11003707	Standard	NM_032971		Approved	PCDHY	uc004fqo.3	Q9BZA8	OTTHUMG00000035105	ENST00000333703.4:c.559C>T	Y.37:g.4925456C>T	ENSP00000330552:p.Pro187Ser					PCDH11Y_ENST00000215473.6_Missense_Mutation_p.P198S|PCDH11Y_ENST00000362095.5_Missense_Mutation_p.P198S	p.P187S	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN			4	1072	+			198			Cadherin 2.		Q70LR6|Q70LR8|Q70LS0|Q70LS1|Q70LS2|Q70LS3|Q70LS4|Q70LS5|Q8WY34|Q9BZA9|Q9H4E1	Missense_Mutation	SNP	ENST00000333703.4	37	c.559C>T	CCDS14776.1																																																																																				0.348	PCDH11Y-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084979.2	NM_032973		49	16	0	0	0	1	0	49	16				
ZNF256	10172	broad.mit.edu	37	19	58453386	58453386	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr19:58453386C>T	ENST00000282308.3	-	3	986	c.790G>A	c.(790-792)Gaa>Aaa	p.E264K	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	264					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		TAAGGCTTTTCTGAAGTGTGA	0.428																																					NSCLC(55;1313 1552 8040 11996)	ENST00000282308.3																			0				endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(790-792)Gaa>Aaa		zinc finger protein 256							144.0	137.0	139.0					19																	58453386		2203	4300	6503	SO:0001583	missense	10172				multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58453386C>T	AF067165	CCDS12966.1	19q13	2013-01-08				ENSG00000152454		"""Zinc fingers, C2H2-type"", ""-"""	13049	protein-coding gene	gene with protein product		606956					Standard	NM_005773		Approved	BMZF-3	uc002qqu.3	Q9Y2P7		ENST00000282308.3:c.790G>A	19.37:g.58453386C>T	ENSP00000282308:p.Glu264Lys					ZNF256_ENST00000598928.1_3'UTR	p.E264K	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)	3	986	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	264					B2RA92|Q53Y85|Q9BV71	Missense_Mutation	SNP	ENST00000282308.3	37	c.790G>A	CCDS12966.1	.	.	.	.	.	.	.	.	.	.	.	19.07	3.756646	0.69648	.	.	ENSG00000152454	ENST00000282308	T	0.24350	1.86	3.04	1.96	0.26148	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30293	0.0760	M	0.73319	2.225	0.27882	N	0.939647	P	0.46395	0.877	B	0.42653	0.394	T	0.15009	-1.0452	9	0.51188	T	0.08	.	11.0305	0.47769	0.0:0.8084:0.1916:0.0	.	264	Q9Y2P7	ZN256_HUMAN	K	264	ENSP00000282308:E264K	ENSP00000282308:E264K	E	-	1	0	ZNF256	63145198	0.740000	0.28207	0.035000	0.18076	0.902000	0.53008	3.314000	0.51943	0.584000	0.29591	0.460000	0.39030	GAA		0.428	ZNF256-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466702.1			67	360	0	0	0	1	0	67	360				
SIRPB1	10326	broad.mit.edu	37	20	1585397	1585397	+	Intron	SNP	T	T	C	rs148754551	byFrequency	TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr20:1585397T>C	ENST00000381605.4	-	1	141				RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381596.1_5'Flank|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A|SIRPB1_ENST00000279477.7_Missense_Mutation_p.T248A|SIRPB1_ENST00000381603.3_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1						cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.T248A(5)		central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CCTCGGATGGTCTCAGACAAG	0.627													t|||	2569	0.512979	0.6967	0.33	5008	,	,		3683	0.4435		0.4473	False		,,,				2504	0.5337					ENST00000279477.7																			5	Substitution - Missense(5)	p.T248A(5)	kidney(3)|prostate(2)	central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						c.(742-744)Acc>Gcc		signal-regulatory protein beta 1							20.0	30.0	27.0					20																	1585397		375	895	1270	SO:0001627	intron_variant	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1585397T>C	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.76+15117A>G	20.37:g.1585397T>C						SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381605.4_Intron	p.T248A	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN			3	806	-			248					A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	ENST00000381605.4	37	c.742A>G	CCDS13019.1	757	0.3466117216117216	239	0.48577235772357724	97	0.26795580110497236	219	0.38286713286713286	202	0.26649076517150394	.	0.464	-0.887787	0.02511	.	.	ENSG00000101307	ENST00000279477	T	0.11930	2.73	2.24	-0.597	0.11653	.	.	.	.	.	T	0.00012	0.0000	N	0.20530	0.585	0.47778	P	4.809999999999537E-4	B	0.02656	0.0	B	0.06405	0.002	T	0.45483	-0.9258	8	0.13470	T	0.59	.	3.263	0.06855	0.2055:0.1485:0.0:0.646	.	248	Q5TFQ8	SIRBL_HUMAN	A	248	ENSP00000279477:T248A	ENSP00000279477:T248A	T	-	1	0	SIRPB1	1533397	0.001000	0.12720	0.631000	0.29282	0.161000	0.22273	-0.285000	0.08410	-0.814000	0.04352	-1.120000	0.02017	ACC		0.627	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		3	52	0	0	0	1	0	3	52				
MTCL1	23255	broad.mit.edu	37	18	8793060	8793060	+	Missense_Mutation	SNP	T	T	A			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr18:8793060T>A	ENST00000359865.3	+	8	2094	c.1952T>A	c.(1951-1953)gTg>gAg	p.V651E	SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000400050.3_Intron|SOGA2_ENST00000518815.1_Intron|SOGA2_ENST00000517570.1_Intron|SOGA2_ENST00000306329.11_Intron	NM_015210.3	NP_056025.2																					GGTCAGCTCGTGCAGGCGGCC	0.498																																						ENST00000359865.3																			0											c.(1951-1953)gTg>gAg		SOGA family member 2							100.0	111.0	107.0					18																	8793060		2203	4300	6503	SO:0001583	missense	23255							g.chr18:8793060T>A																												ENST00000359865.3:c.1952T>A	18.37:g.8793060T>A	ENSP00000352927:p.Val651Glu					SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000400050.3_Intron|SOGA2_ENST00000518815.1_Intron|SOGA2_ENST00000306329.11_Intron|SOGA2_ENST00000517570.1_Intron	p.V651E	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN			8	2094	+			980						Missense_Mutation	SNP	ENST00000359865.3	37	c.1952T>A	CCDS11841.1	.	.	.	.	.	.	.	.	.	.	T	9.262	1.043461	0.19748	.	.	ENSG00000168502	ENST00000306329;ENST00000359865	T	0.36340	1.26	5.68	-3.26	0.05064	.	1.026340	0.07770	N	0.951654	T	0.11452	0.0279	N	0.03608	-0.345	0.09310	N	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.32561	-0.9902	10	0.02654	T	1	.	5.4174	0.16382	0.3864:0.218:0.0:0.3956	.	651	Q9Y4B5-3	.	E	672;651	ENSP00000352927:V651E	ENSP00000305027:V672E	V	+	2	0	CCDC165	8783060	0.020000	0.18652	0.000000	0.03702	0.395000	0.30598	0.420000	0.21263	-0.437000	0.07243	-0.379000	0.06801	GTG		0.498	SOGA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254476.1			39	83	0	0	0	1	0	39	83				
CCDC71	64925	broad.mit.edu	37	3	49200341	49200341	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr3:49200341C>T	ENST00000321895.6	-	2	1407	c.1301G>A	c.(1300-1302)cGg>cAg	p.R434Q		NM_022903.3	NP_075054.3	Q8IV32	CCD71_HUMAN	coiled-coil domain containing 71	434										endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ATCCGAGGACCGCCTATCTAC	0.582																																						ENST00000321895.6																			0				endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	10						c.(1300-1302)cGg>cAg		coiled-coil domain containing 71							74.0	70.0	71.0					3																	49200341		2203	4300	6503	SO:0001583	missense	64925							g.chr3:49200341C>T	AK022862	CCDS2790.1	3p21.31	2014-02-12			ENSG00000177352	ENSG00000177352			25760	protein-coding gene	gene with protein product						12477932	Standard	NM_022903		Approved	FLJ12800	uc003cwg.4	Q8IV32	OTTHUMG00000156815	ENST00000321895.6:c.1301G>A	3.37:g.49200341C>T	ENSP00000319006:p.Arg434Gln						p.R434Q	NM_022903.3	NP_075054.3	Q8IV32	CCD71_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	2	1407	-			434					Q6IPE2|Q9H8H4|Q9H9F1	Missense_Mutation	SNP	ENST00000321895.6	37	c.1301G>A	CCDS2790.1	.	.	.	.	.	.	.	.	.	.	C	10.52	1.372149	0.24857	.	.	ENSG00000177352	ENST00000321895	T	0.30448	1.53	5.9	-5.68	0.02436	.	2.218800	0.03232	N	0.179176	T	0.19967	0.0480	L	0.40543	1.245	0.09310	N	1	B	0.13594	0.008	B	0.06405	0.002	T	0.12344	-1.0551	10	0.34782	T	0.22	-32.5149	1.9392	0.03343	0.172:0.1475:0.1955:0.485	.	434	Q8IV32	CCD71_HUMAN	Q	434	ENSP00000319006:R434Q	ENSP00000319006:R434Q	R	-	2	0	CCDC71	49175345	0.000000	0.05858	0.001000	0.08648	0.649000	0.38597	-0.708000	0.05035	-1.101000	0.03027	-0.251000	0.11542	CGG		0.582	CCDC71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345980.1	NM_022903		7	41	0	0	0	1	0	7	41				
CACNA1E	777	broad.mit.edu	37	1	181702649	181702649	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr1:181702649C>T	ENST00000367573.2	+	21	3025	c.3025C>T	c.(3025-3027)Ccc>Tcc	p.P1009S	CACNA1E_ENST00000526775.1_Missense_Mutation_p.P990S|CACNA1E_ENST00000367570.1_Missense_Mutation_p.P1009S|CACNA1E_ENST00000357570.5_Missense_Mutation_p.P960S|CACNA1E_ENST00000360108.3_Missense_Mutation_p.P990S|CACNA1E_ENST00000358338.5_Missense_Mutation_p.P941S|CACNA1E_ENST00000367567.4_Missense_Mutation_p.P616S	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1009					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCTAGTCCTGCCCCATCCTGA	0.612																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(2968-2970)Ccc>Tcc		calcium channel, voltage-dependent, R type, alpha 1E subunit							48.0	55.0	53.0					1																	181702649		2129	4248	6377	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181702649C>T	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.3025C>T	1.37:g.181702649C>T	ENSP00000356545:p.Pro1009Ser					CACNA1E_ENST00000357570.5_Missense_Mutation_p.P960S|CACNA1E_ENST00000358338.5_Missense_Mutation_p.P941S|CACNA1E_ENST00000360108.3_Missense_Mutation_p.P990S|CACNA1E_ENST00000367573.2_Missense_Mutation_p.P1009S|CACNA1E_ENST00000367570.1_Missense_Mutation_p.P1009S|CACNA1E_ENST00000367567.4_Missense_Mutation_p.P616S	p.P990S	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			20	3133	+			1009					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.2968C>T	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	8.463	0.855804	0.17106	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.95853	-3.76;-3.76;-3.77;-3.76;-3.83;-3.77;-3.77	4.19	2.03	0.26663	.	1.451030	0.04112	N	0.314851	D	0.88093	0.6344	N	0.08118	0	0.09310	N	0.999997	B;B;B	0.11235	0.002;0.004;0.002	B;B;B	0.10450	0.005;0.003;0.005	T	0.79097	-0.1943	10	0.09843	T	0.71	.	7.6365	0.28270	0.0:0.7194:0.1726:0.1079	.	990;1009;1009	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	S	1009;990;960;941;616;990;1009	ENSP00000356542:P1009S;ENSP00000434814:P990S;ENSP00000350183:P960S;ENSP00000351101:P941S;ENSP00000356539:P616S;ENSP00000353222:P990S;ENSP00000356545:P1009S	ENSP00000350183:P960S	P	+	1	0	CACNA1E	179969272	0.000000	0.05858	0.043000	0.18650	0.019000	0.09904	0.057000	0.14279	0.921000	0.36994	0.462000	0.41574	CCC		0.612	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		9	19	0	0	0	1	0	9	19				
IGLV3-25	28793	broad.mit.edu	37	22	23029467	23029467	+	RNA	SNP	G	G	A	rs546527918		TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr22:23029467G>A	ENST00000390305.2	+	0	112									immunoglobulin lambda variable 3-25																		CCTATGAGCTGACACAGCCAC	0.572													.|||	1	0.000199681	0.0008	0.0	5008	,	,		18425	0.0		0.0	False		,,,				2504	0.0					ENST00000390305.2																			0																				71.0	69.0	69.0					22																	23029467		1937	4142	6079			0							g.chr22:23029467G>A	X97474		22q11.2	2012-02-08			ENSG00000211659	ENSG00000211659		"""Immunoglobulins / IGL locus"""	5908	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151221		22.37:g.23029467G>A														0	112	+									RNA	SNP	ENST00000390305.2	37																																																																																						0.572	IGLV3-25-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321825.1	NG_000002		7	74	0	0	0	1	0	7	74				
DPH2	1802	broad.mit.edu	37	1	44435899	44435899	+	Missense_Mutation	SNP	G	G	C	rs41270389		TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr1:44435899G>C	ENST00000255108.3	+	1	224	c.52G>C	c.(52-54)Ggg>Cgg	p.G18R	DPH2_ENST00000412950.2_5'UTR|DPH2_ENST00000529729.1_3'UTR|DPH2_ENST00000396758.2_Missense_Mutation_p.G18R	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN	DPH2 homolog (S. cerevisiae)	18					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)	cytoplasm (GO:0005737)				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				GCGAGAGACCGGGGTGCCAGG	0.647																																						ENST00000255108.3																			0				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19						c.(52-54)Ggg>Cgg		DPH2 homolog (S. cerevisiae)							62.0	66.0	65.0					1																	44435899		2203	4300	6503	SO:0001583	missense	1802				peptidyl-diphthamide biosynthetic process from peptidyl-histidine	cytoplasm		g.chr1:44435899G>C	AF053003	CCDS504.1, CCDS41314.1	1p34	2008-02-05	2005-06-03	2005-06-03	ENSG00000132768	ENSG00000132768			3004	protein-coding gene	gene with protein product		603456	"""diptheria toxin resistance protein required for diphthamide biosynthesis-like 2 (S. cerevisiae)"", ""DPH2-like 2 (S. cerevisiae)"""	DPH2L2		9782084, 15485916	Standard	XM_005270559		Approved		uc001ckz.3	Q9BQC3	OTTHUMG00000008295	ENST00000255108.3:c.52G>C	1.37:g.44435899G>C	ENSP00000255108:p.Gly18Arg					DPH2_ENST00000396758.2_Missense_Mutation_p.G18R|DPH2_ENST00000529729.1_3'UTR|DPH2_ENST00000412950.2_5'UTR	p.G18R	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN			1	224	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	18					A8MVC9|B2RDE3|B4DNI8|O60623	Missense_Mutation	SNP	ENST00000255108.3	37	c.52G>C	CCDS504.1	.	.	.	.	.	.	.	.	.	.	G	7.924	0.739265	0.15642	.	.	ENSG00000132768	ENST00000255108;ENST00000396758	.	.	.	5.24	5.24	0.73138	.	0.234553	0.40302	N	0.001121	T	0.56441	0.1985	L	0.56769	1.78	0.37484	D	0.916095	P;D	0.60575	0.894;0.988	P;P	0.55667	0.456;0.781	T	0.56992	-0.7887	9	0.20519	T	0.43	-11.3005	7.9848	0.30205	0.0859:0.162:0.7521:0.0	.	18;18	A8MVC9;Q9BQC3	.;DPH2_HUMAN	R	18	.	ENSP00000255108:G18R	G	+	1	0	DPH2	44208486	0.947000	0.32204	0.649000	0.29536	0.130000	0.20726	2.323000	0.43823	2.608000	0.88229	0.461000	0.40582	GGG		0.647	DPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022832.1	NM_001384		6	59	0	0	0	1	0	6	59				
COL11A1	1301	broad.mit.edu	37	1	103488491	103488491	+	Missense_Mutation	SNP	T	T	C			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr1:103488491T>C	ENST00000370096.3	-	8	1364	c.1052A>G	c.(1051-1053)cAg>cGg	p.Q351R	COL11A1_ENST00000358392.2_Missense_Mutation_p.Q363R|COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000353414.4_Missense_Mutation_p.Q312R	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	351	Nonhelical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ATTTTTCCTCTGGGAATCATA	0.338																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(1087-1089)cAg>cGg		collagen, type XI, alpha 1							64.0	65.0	65.0					1																	103488491		2203	4299	6502	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103488491T>C	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1052A>G	1.37:g.103488491T>C	ENSP00000359114:p.Gln351Arg					COL11A1_ENST00000353414.4_Missense_Mutation_p.Q312R|COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000370096.3_Missense_Mutation_p.Q351R	p.Q363R	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	8	1405	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	351			Nonhelical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.1088A>G	CCDS778.1	.	.	.	.	.	.	.	.	.	.	T	12.13	1.846988	0.32606	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000427239	D;T;D;T	0.87966	-2.29;-0.57;-2.32;-0.6	5.67	5.67	0.87782	.	0.670897	0.14762	N	0.299917	T	0.69655	0.3135	L	0.41027	1.25	0.31674	N	0.643953	B;B;B	0.28636	0.218;0.218;0.139	B;B;B	0.22601	0.04;0.04;0.018	T	0.59731	-0.7399	10	0.16420	T	0.52	.	13.4408	0.61112	0.0:0.0:0.0:1.0	.	312;363;351	P12107-3;P12107-2;P12107	.;.;COBA1_HUMAN	R	351;363;312;363	ENSP00000359114:Q351R;ENSP00000351163:Q363R;ENSP00000302551:Q312R;ENSP00000408640:Q363R	ENSP00000302551:Q312R	Q	-	2	0	COL11A1	103261079	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.542000	0.67218	2.156000	0.67533	0.523000	0.50628	CAG		0.338	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		11	55	0	0	0	1	0	11	55				
PARVB	29780	broad.mit.edu	37	22	44532375	44532375	+	Silent	SNP	G	G	A			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr22:44532375G>A	ENST00000338758.7	+	7	732	c.669G>A	c.(667-669)tcG>tcA	p.S223S	PARVB_ENST00000404989.1_Silent_p.S186S|PARVB_ENST00000406477.3_Silent_p.S256S	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta	223					actin cytoskeleton reorganization (GO:0031532)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell projection assembly (GO:0030031)|establishment or maintenance of cell polarity regulating cell shape (GO:0071963)|lamellipodium assembly (GO:0030032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				GCCACATCTCGGAGGAGCTGA	0.552																																						ENST00000338758.6																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25						c.(667-669)tcG>tcA		parvin, beta							97.0	86.0	89.0					22																	44532375		2203	4300	6503	SO:0001819	synonymous_variant	29780				cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding	g.chr22:44532375G>A	AF151814	CCDS14056.1, CCDS46724.1, CCDS58808.1, CCDS74874.1	22q13.2-q13.33	2013-01-24			ENSG00000188677	ENSG00000188677		"""Parvins"""	14653	protein-coding gene	gene with protein product	"""affixin"""	608121				10810093, 11171322	Standard	NM_001003828		Approved	CGI-56	uc003ben.3	Q9HBI1	OTTHUMG00000150665	ENST00000338758.7:c.669G>A	22.37:g.44532375G>A						PARVB_ENST00000406477.3_Silent_p.S256S|PARVB_ENST00000404989.1_Silent_p.S186S	p.S223S	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN			7	732	+		Ovarian(80;0.0246)|all_neural(38;0.0423)	223					B0QYM8|B0QYN1|B2R9X6|Q5TGJ5|Q86X93|Q96PN1|Q9NSP7|Q9UGT3|Q9Y368|Q9Y3L6|Q9Y3L7	Silent	SNP	ENST00000338758.7	37	c.669G>A	CCDS14056.1																																																																																				0.552	PARVB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319518.2	NM_001003828		7	37	0	0	0	1	0	7	37				
TTC30A	92104	broad.mit.edu	37	2	178481831	178481831	+	Silent	SNP	A	A	G			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr2:178481831A>G	ENST00000355689.5	-	1	1863	c.1599T>C	c.(1597-1599)taT>taC	p.Y533Y	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	533					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			TTGGGTCATCATAAGAGAGCT	0.388																																						ENST00000355689.4																			0				autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(1597-1599)taT>taC		tetratricopeptide repeat domain 30A							231.0	241.0	238.0					2																	178481831		2203	4300	6503	SO:0001819	synonymous_variant	92104				cell projection organization	cilium	binding	g.chr2:178481831A>G	AK024008	CCDS2276.1	2q31.2	2013-01-11			ENSG00000197557	ENSG00000197557		"""Tetratricopeptide (TTC) repeat domain containing"""	25853	protein-coding gene	gene with protein product						12477932	Standard	NM_152275		Approved	FLJ13946	uc002ulo.3	Q86WT1	OTTHUMG00000132528	ENST00000355689.5:c.1599T>C	2.37:g.178481831A>G						AC073834.3_ENST00000357045.4_RNA	p.Y533Y	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)		1	1863	-			533					A8K8N0|Q8IVP2	Silent	SNP	ENST00000355689.5	37	c.1599T>C	CCDS2276.1																																																																																				0.388	TTC30A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255728.2	NM_152275		101	172	0	0	0	1	0	101	172				
NDUFAF2	91942	broad.mit.edu	37	5	60241050	60241050	+	De_novo_Start_OutOfFrame	SNP	G	G	A	rs200299226	byFrequency	TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr5:60241050G>A	ENST00000296597.5	+	0	95				NDUFAF2_ENST00000511107.1_De_novo_Start_OutOfFrame|ERCC8_ENST00000265038.5_5'Flank|ERCC8_ENST00000426742.2_5'Flank|ERCC8_ENST00000543101.1_5'Flank	NM_174889.4	NP_777549.1	Q8N183	MIMIT_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 2						negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)	mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)				TGCGGGTCCCGCTGCTGGCAG	0.632																																						ENST00000296597.5																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6								NADH dehydrogenase (ubiquinone) complex I, assembly factor 2							29.0	29.0	29.0					5																	60241050		2203	4300	6503			91942					membrane|mitochondrion	electron carrier activity|NADH dehydrogenase (ubiquinone) activity	g.chr5:60241050G>A	AB183433	CCDS3979.1	5q12.1	2012-10-12	2012-05-08	2008-02-15	ENSG00000164182	ENSG00000164182		"""Mitochondrial respiratory chain complex assembly factors"""	28086	protein-coding gene	gene with protein product	"""Myc-induced mitochondrial protein"""	609653	"""NDUFA12-like"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2"""	NDUFA12L		15774466, 16200211, 17383918	Standard	NM_174889		Approved	B17.2L, MMTN, mimitin	uc003jsp.4	Q8N183	OTTHUMG00000131221	ENST00000296597.5:c.-33G>A	5.37:g.60241050G>A						NDUFAF2_ENST00000511107.1_De_novo_Start_OutOfFrame		NM_174889.4	NP_777549.1	Q8N183	MIMIT_HUMAN			0	95	+		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)						A8K5I1	Translation_Start_Site	SNP	ENST00000296597.5	37		CCDS3979.1																																																																																				0.632	NDUFAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253965.1	NM_174889		3	12	0	0	0	1	0	3	12				
SEZ6L	23544	broad.mit.edu	37	22	26707841	26707841	+	Missense_Mutation	SNP	G	G	T	rs375633558		TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr22:26707841G>T	ENST00000248933.6	+	8	1884	c.1789G>T	c.(1789-1791)Ggc>Tgc	p.G597C	SEZ6L_ENST00000360929.3_Missense_Mutation_p.G597C|SEZ6L_ENST00000343706.4_Missense_Mutation_p.G597C|SEZ6L_ENST00000529632.2_Missense_Mutation_p.G597C|SEZ6L_ENST00000403121.1_Missense_Mutation_p.G370C|SEZ6L_ENST00000404234.3_Missense_Mutation_p.G597C|SEZ6L_ENST00000402979.1_Missense_Mutation_p.G370C			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	597	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CTGCGACCCCGGCCACTCCCT	0.567																																						ENST00000529632.2																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						c.(1789-1791)Ggc>Tgc		seizure related 6 homolog (mouse)-like							152.0	152.0	152.0					22																	26707841		2203	4300	6503	SO:0001583	missense	23544					endoplasmic reticulum membrane|integral to membrane		g.chr22:26707841G>T	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.1789G>T	22.37:g.26707841G>T	ENSP00000248933:p.Gly597Cys					SEZ6L_ENST00000403121.1_Missense_Mutation_p.G370C|SEZ6L_ENST00000404234.3_Missense_Mutation_p.G597C|SEZ6L_ENST00000248933.6_Missense_Mutation_p.G597C|SEZ6L_ENST00000402979.1_Missense_Mutation_p.G370C|SEZ6L_ENST00000360929.3_Missense_Mutation_p.G597C|SEZ6L_ENST00000343706.4_Missense_Mutation_p.G597C	p.G597C	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN			8	1985	+			597			Sushi 2.		A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	ENST00000248933.6	37	c.1789G>T	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.759687	0.89932	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706;ENST00000403121;ENST00000402979	T;T;T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1	4.83	4.83	0.62350	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.56097	D	0.000021	D	0.91895	0.7434	H	0.96142	3.775	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.94391	0.7614	10	0.87932	D	0	.	17.0892	0.86618	0.0:0.0:1.0:0.0	.	597;597;370;597;597;597;597	B7ZLJ8;B7ZLJ6;B0QYH4;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;.;SE6L1_HUMAN	C	597;597;597;597;597;370;370	ENSP00000384772:G597C;ENSP00000437037:G597C;ENSP00000354185:G597C;ENSP00000248933:G597C;ENSP00000342661:G597C;ENSP00000384838:G370C;ENSP00000384733:G370C	ENSP00000248933:G597C	G	+	1	0	SEZ6L	25037841	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.085000	0.94083	2.498000	0.84270	0.563000	0.77884	GGC		0.567	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			4	187	1	0	0.000602214	1	0.000642905	4	187				
OR5M8	219484	broad.mit.edu	37	11	56258436	56258436	+	Missense_Mutation	SNP	C	C	A			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr11:56258436C>A	ENST00000327216.2	-	1	435	c.411G>T	c.(409-411)aaG>aaT	p.K137N		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	137						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					AGCACACACTCTTGGACATTC	0.542																																						ENST00000327216.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(409-411)aaG>aaT		olfactory receptor, family 5, subfamily M, member 8							96.0	82.0	87.0					11																	56258436		2201	4296	6497	SO:0001583	missense	219484				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56258436C>A	AB065744	CCDS31533.1	11q11	2012-08-09			ENSG00000181371	ENSG00000181371		"""GPCR / Class A : Olfactory receptors"""	14846	protein-coding gene	gene with protein product							Standard	NM_001005282		Approved		uc001nix.1	Q8NGP6	OTTHUMG00000166877	ENST00000327216.2:c.411G>T	11.37:g.56258436C>A	ENSP00000323354:p.Lys137Asn						p.K137N	NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN			1	435	-	Esophageal squamous(21;0.00352)		137					B2RNM5|Q6IEW3|Q96RB8	Missense_Mutation	SNP	ENST00000327216.2	37	c.411G>T	CCDS31533.1	.	.	.	.	.	.	.	.	.	.	C	5.180	0.218748	0.09810	.	.	ENSG00000181371	ENST00000327216	T	0.21361	2.01	4.41	1.38	0.22167	GPCR, rhodopsin-like superfamily (1);	1.041630	0.07656	N	0.932768	T	0.16428	0.0395	L	0.39514	1.22	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.32348	-0.9910	10	0.30078	T	0.28	-6.4481	5.8521	0.18699	0.1584:0.6557:0.0:0.1858	.	137	Q8NGP6	OR5M8_HUMAN	N	137	ENSP00000323354:K137N	ENSP00000323354:K137N	K	-	3	2	OR5M8	56015012	0.000000	0.05858	0.001000	0.08648	0.047000	0.14425	-2.426000	0.01027	0.408000	0.25621	0.638000	0.83543	AAG		0.542	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391641.1	NM_001005282		21	34	1	0	1.87028e-06	1	2.08102e-06	21	34				
EPHB1	2047	broad.mit.edu	37	3	134885817	134885817	+	Silent	SNP	C	C	T	rs369483622		TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr3:134885817C>T	ENST00000398015.3	+	9	2098	c.1728C>T	c.(1726-1728)agC>agT	p.S576S	EPHB1_ENST00000493838.1_Silent_p.S137S	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	576					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CTGTGTACAGCGATAAGCTCC	0.552																																						ENST00000398015.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						c.(1726-1728)agC>agT		EPH receptor B1		C		0,3834		0,0,1917	144.0	151.0	149.0		1728	-2.5	1.0	3		149	2,8272		0,2,4135	no	coding-synonymous	EPHB1	NM_004441.4		0,2,6052	TT,TC,CC		0.0242,0.0,0.0165		576/985	134885817	2,12106	1917	4137	6054	SO:0001819	synonymous_variant	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134885817C>T	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1728C>T	3.37:g.134885817C>T						EPHB1_ENST00000493838.1_Silent_p.S137S	p.S576S	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN			9	2098	+			576					A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Silent	SNP	ENST00000398015.3	37	c.1728C>T	CCDS46921.1																																																																																				0.552	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		7	178	0	0	0	1	0	7	178				
PSG7	5676	broad.mit.edu	37	19	43430713	43430713	+	RNA	SNP	G	G	A			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr19:43430713G>A	ENST00000406070.2	-	0	961				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				TTTTCAATGCGTCGCTTTACC	0.493																																						ENST00000446844.3																			0													pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)							237.0	219.0	225.0					19																	43430713		2202	4284	6486			5676				female pregnancy	extracellular region		g.chr19:43430713G>A			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43430713G>A						PSG7_ENST00000406070.2_RNA				Q13046	PSG7_HUMAN			0	954	-		Prostate(69;0.00682)						Q15232	RNA	SNP	ENST00000406070.2	37																																																																																						0.493	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		109	226	0	0	0	1	0	109	226				
TMEM199	147007	broad.mit.edu	37	17	26687568	26687568	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr17:26687568G>A	ENST00000292114.3	+	4	482	c.392G>A	c.(391-393)gGg>gAg	p.G131E	TMEM199_ENST00000395404.3_5'UTR|CTB-96E2.3_ENST00000591482.1_RNA|MIR4723_ENST00000585070.1_RNA|TMEM199_ENST00000509083.1_Missense_Mutation_p.G131E|CTB-96E2.7_ENST00000577850.1_RNA	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN	transmembrane protein 199	131						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		AGACATGGTGGGACTCTCAGC	0.468																																						ENST00000292114.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6						c.(391-393)gGg>gAg		transmembrane protein 199							109.0	99.0	103.0					17																	26687568		2203	4300	6503	SO:0001583	missense	147007					integral to membrane		g.chr17:26687568G>A	AY074907	CCDS11228.1	17q11.2	2007-12-17	2007-12-17	2007-12-17	ENSG00000244045	ENSG00000244045			18085	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 32"""	C17orf32			Standard	NM_152464		Approved	MGC45714	uc002hba.3	Q8N511	OTTHUMG00000132498	ENST00000292114.3:c.392G>A	17.37:g.26687568G>A	ENSP00000292114:p.Gly131Glu					CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000395404.3_5'UTR|TMEM199_ENST00000509083.1_Missense_Mutation_p.G131E	p.G131E	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	4	482	+	all_lung(13;0.000354)|Lung NSC(42;0.00115)		131						Missense_Mutation	SNP	ENST00000292114.3	37	c.392G>A	CCDS11228.1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.901999	0.52227	.	.	ENSG00000244045	ENST00000292114;ENST00000509083;ENST00000395404	T;T	0.27402	1.67;1.67	5.85	2.71	0.32032	.	0.089556	0.85682	N	0.000000	T	0.32102	0.0818	L	0.38838	1.175	0.58432	D	0.999993	D;P	0.57899	0.981;0.751	P;B	0.58077	0.832;0.327	T	0.09271	-1.0682	10	0.09843	T	0.71	-6.543	9.1618	0.37028	0.075:0.2767:0.6483:0.0	.	131;131	E9PBQ3;Q8N511	.;TM199_HUMAN	E	131;131;49	ENSP00000292114:G131E;ENSP00000427614:G131E	ENSP00000292114:G131E	G	+	2	0	TMEM199	23711695	1.000000	0.71417	0.958000	0.39756	0.529000	0.34654	2.656000	0.46716	0.353000	0.24079	-0.140000	0.14226	GGG		0.468	TMEM199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255676.2	NM_152464		7	26	0	0	0	1	0	7	26				
KCNK10	54207	broad.mit.edu	37	14	88729884	88729884	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr14:88729884C>T	ENST00000340700.5	-	2	500	c.49G>A	c.(49-51)Gca>Aca	p.A17T	KCNK10_ENST00000312350.5_Missense_Mutation_p.A22T|KCNK10_ENST00000319231.5_Missense_Mutation_p.A22T	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	17					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GGTGCTGCTGCGGGAACGGCC	0.562																																						ENST00000340700.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						c.(49-51)Gca>Aca		potassium channel, subfamily K, member 10							25.0	30.0	28.0					14																	88729884		2187	4274	6461	SO:0001583	missense	54207				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:88729884C>T	AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6273	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 97"""	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.49G>A	14.37:g.88729884C>T	ENSP00000343104:p.Ala17Thr					KCNK10_ENST00000312350.5_Missense_Mutation_p.A22T|KCNK10_ENST00000319231.5_Missense_Mutation_p.A22T	p.A17T	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN			2	500	-			17					B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Missense_Mutation	SNP	ENST00000340700.5	37	c.49G>A	CCDS9880.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.593621	0.46214	.	.	ENSG00000100433	ENST00000340700;ENST00000312350;ENST00000319231;ENST00000556282	D;D;D;T	0.91686	-2.84;-2.89;-2.72;0.78	5.86	4.01	0.46588	.	2.472170	0.01372	N	0.012636	D	0.89252	0.6662	L	0.42245	1.32	0.29160	N	0.877828	B;B;B	0.24368	0.0;0.102;0.0	B;B;B	0.17722	0.0;0.019;0.0	T	0.76192	-0.3049	10	0.72032	D	0.01	.	5.4436	0.16523	0.2891:0.5323:0.1088:0.0698	.	17;22;22	P57789;B2R8T4;Q6B014	KCNKA_HUMAN;.;.	T	17;22;22;5	ENSP00000343104:A17T;ENSP00000310568:A22T;ENSP00000312811:A22T;ENSP00000452587:A5T	ENSP00000310568:A22T	A	-	1	0	KCNK10	87799637	0.012000	0.17670	0.842000	0.33263	0.768000	0.43524	0.296000	0.19083	0.887000	0.36136	0.650000	0.86243	GCA		0.562	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161		7	53	0	0	0	1	0	7	53				
CCSAP	126731	broad.mit.edu	37	1	229462538	229462538	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr1:229462538C>T	ENST00000366687.1	-	2	634	c.583G>A	c.(583-585)Gat>Aat	p.D195N	CCSAP_ENST00000284617.2_Missense_Mutation_p.D195N|CCSAP_ENST00000366686.1_Missense_Mutation_p.D81N|CCSAP_ENST00000483092.1_5'UTR			Q6IQ19	CCSAP_HUMAN	centriole, cilia and spindle-associated protein	195					multicellular organismal development (GO:0007275)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|regulation of embryonic development (GO:0045995)	axon (GO:0030424)|axoneme (GO:0005930)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cilium (GO:0005929)|spindle (GO:0005819)											CTTCCTGTATCGGTCTGTTTT	0.498																																						ENST00000284617.2																			0											c.(583-585)Gat>Aat		centriole, cilia and spindle-associated protein							216.0	186.0	196.0					1																	229462538		2203	4300	6503	SO:0001583	missense	126731							g.chr1:229462538C>T	BC071609	CCDS1577.1	1q42.13	2012-06-19	2012-06-19	2012-06-19	ENSG00000154429	ENSG00000154429			29578	protein-coding gene	gene with protein product	"""centriole and spindle-associated protein"""		"""chromosome 1 open reading frame 96"""	C1orf96		22493317	Standard	NM_145257		Approved	FLJ41471, CSAP	uc001htl.4	Q6IQ19	OTTHUMG00000037663	ENST00000366687.1:c.583G>A	1.37:g.229462538C>T	ENSP00000355648:p.Asp195Asn					CCSAP_ENST00000483092.1_5'UTR|CCSAP_ENST00000366687.1_Missense_Mutation_p.D195N|CCSAP_ENST00000366686.1_Missense_Mutation_p.D81N	p.D195N	NM_145257.3	NP_660300.3					3	707	-								A8K5X2|Q6P9G2|Q6ZW85|Q8IXU1|Q96BM2	Missense_Mutation	SNP	ENST00000366687.1	37	c.583G>A	CCDS1577.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.477322	0.44044	.	.	ENSG00000154429	ENST00000366687;ENST00000284617;ENST00000366686	T;T;T	0.53640	0.68;0.68;0.61	5.46	4.55	0.56014	.	0.098886	0.64402	D	0.000003	T	0.63780	0.2540	M	0.64997	1.995	0.48341	D	0.999634	D	0.89917	1.0	D	0.72338	0.977	T	0.65442	-0.6167	10	0.54805	T	0.06	-28.8556	12.5655	0.56308	0.0:0.9234:0.0:0.0766	.	195	Q6IQ19	CA096_HUMAN	N	195;195;81	ENSP00000355648:D195N;ENSP00000284617:D195N;ENSP00000355647:D81N	ENSP00000284617:D195N	D	-	1	0	C1orf96	227529161	0.985000	0.35326	0.003000	0.11579	0.000000	0.00434	3.154000	0.50693	1.314000	0.45095	-0.140000	0.14226	GAT		0.498	CCSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091839.1	NM_145257		53	87	0	0	0	1	0	53	87				
HIST1H2BO	8348	broad.mit.edu	37	6	27861251	27861251	+	Missense_Mutation	SNP	C	C	A			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr6:27861251C>A	ENST00000303806.4	+	1	49	c.11C>A	c.(10-12)cCg>cAg	p.P4Q	HIST1H3J_ENST00000479986.1_5'Flank|HIST1H3J_ENST00000359303.2_5'Flank|HIST1H2AM_ENST00000359611.2_5'Flank	NM_003527.4	NP_003518.2	P23527	H2B1O_HUMAN	histone cluster 1, H2bo	4					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)										ATGCCCGACCCGGCTAAATCT	0.507																																						ENST00000303806.4																			0											c.(10-12)cCg>cAg		histone cluster 1, H2bo							46.0	50.0	49.0					6																	27861251		2203	4300	6503	SO:0001583	missense	8348				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27861251C>A	X57138	CCDS4640.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000196331			"""Histones / Replication-dependent"""	4758	protein-coding gene	gene with protein product		602808	"""H2B histone family, member N"", ""histone 1, H2bo"""	H2BFN		1768865, 12408966	Standard	NM_003527		Approved	H2B/n, H2B.2	uc003nkc.1	P23527	OTTHUMG00000014493	ENST00000303806.4:c.11C>A	6.37:g.27861251C>A	ENSP00000303408:p.Pro4Gln						p.P4Q	NM_003527.4	NP_003518.2	P23527	H2B1O_HUMAN			1	49	+			4					Q3KPI7|Q8TCV6	Missense_Mutation	SNP	ENST00000303806.4	37	c.11C>A	CCDS4640.1	.	.	.	.	.	.	.	.	.	.	C	15.56	2.870729	0.51695	.	.	ENSG00000196331	ENST00000303806	T	0.19532	2.14	3.7	3.7	0.42460	.	.	.	.	.	T	0.29321	0.0730	M	0.86502	2.82	0.29924	N	0.822476	D	0.64830	0.994	P	0.50378	0.639	T	0.09574	-1.0668	9	0.56958	D	0.05	.	15.2409	0.73468	0.0:1.0:0.0:0.0	.	4	P23527	H2B1O_HUMAN	Q	4	ENSP00000303408:P4Q	ENSP00000303408:P4Q	P	+	2	0	HIST1H2BO	27969230	0.950000	0.32346	0.022000	0.16811	0.029000	0.11900	3.539000	0.53604	2.356000	0.79943	0.561000	0.74099	CCG		0.507	HIST1H2BO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040161.1	NM_003527		4	58	1	0	0.014758	1	0.0151413	4	58				
SLC12A6	9990	broad.mit.edu	37	15	34528968	34528968	+	Nonsense_Mutation	SNP	C	C	A			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr15:34528968C>A	ENST00000354181.3	-	23	3475	c.2983G>T	c.(2983-2985)Gaa>Taa	p.E995*	SLC12A6_ENST00000560164.1_Nonsense_Mutation_p.E807*|SLC12A6_ENST00000397707.2_Nonsense_Mutation_p.E980*|SLC12A6_ENST00000560611.1_Nonsense_Mutation_p.E995*|SLC12A6_ENST00000397702.2_Nonsense_Mutation_p.E936*|SLC12A6_ENST00000290209.5_Nonsense_Mutation_p.E944*|SLC12A6_ENST00000458406.2_Nonsense_Mutation_p.E936*|SLC12A6_ENST00000558589.1_Nonsense_Mutation_p.E986*|SLC12A6_ENST00000558667.1_Nonsense_Mutation_p.E995*|SLC12A6_ENST00000451844.2_Nonsense_Mutation_p.E807*			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	995					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	GACCTTTGTTCCATCATCAAA	0.458																																						ENST00000354181.3																			0				central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45						c.(2983-2985)Gaa>Taa		solute carrier family 12 (potassium/chloride transporter), member 6	Potassium Chloride(DB00761)						221.0	190.0	200.0					15																	34528968		2201	4298	6499	SO:0001587	stop_gained	9990				angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity	g.chr15:34528968C>A	AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"""Solute carriers"""	10914	protein-coding gene	gene with protein product		604878	"""agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"""	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.2983G>T	15.37:g.34528968C>A	ENSP00000346112:p.Glu995*					SLC12A6_ENST00000458406.2_Nonsense_Mutation_p.E936*|SLC12A6_ENST00000451844.2_Nonsense_Mutation_p.E807*|SLC12A6_ENST00000397707.2_Nonsense_Mutation_p.E980*|SLC12A6_ENST00000290209.5_Nonsense_Mutation_p.E944*|SLC12A6_ENST00000558589.1_Nonsense_Mutation_p.E986*|SLC12A6_ENST00000558667.1_Nonsense_Mutation_p.E995*|SLC12A6_ENST00000560164.1_Nonsense_Mutation_p.E807*|SLC12A6_ENST00000560611.1_Nonsense_Mutation_p.E995*|SLC12A6_ENST00000397702.2_Nonsense_Mutation_p.E936*	p.E995*			Q9UHW9	S12A6_HUMAN		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	23	3475	-		all_lung(180;2.78e-08)	995					A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Nonsense_Mutation	SNP	ENST00000354181.3	37	c.2983G>T	CCDS58352.1	.	.	.	.	.	.	.	.	.	.	C	42	9.391632	0.99158	.	.	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406;ENST00000451844	.	.	.	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.5803	0.87965	0.0:1.0:0.0:0.0	.	.	.	.	X	944;980;986;936;936;807	.	ENSP00000290209:E944X	E	-	1	0	SLC12A6	32316260	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	7.651000	0.83577	2.692000	0.91855	0.650000	0.86243	GAA		0.458	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	NM_005135		13	71	1	0	0.00316338	1	0.00328825	13	71				
AARS	16	broad.mit.edu	37	16	70305754	70305754	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr16:70305754C>T	ENST00000261772.8	-	5	744	c.601G>A	c.(601-603)Gca>Aca	p.A201T		NM_001605.2	NP_001596.2			alanyl-tRNA synthetase											breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)		ACAAGATGTGCGGCGTCCCGA	0.542																																						ENST00000261772.8																			0				breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27						c.(601-603)Gca>Aca		alanyl-tRNA synthetase	L-Alanine(DB00160)						109.0	100.0	103.0					16																	70305754		2198	4300	6498	SO:0001583	missense	16				alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr16:70305754C>T	D32050	CCDS32474.1	16q22.1	2014-09-17			ENSG00000090861	ENSG00000090861	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	20	protein-coding gene	gene with protein product	"""alanine tRNA ligase 1, cytoplasmic"""	601065				8595897	Standard	NM_001605		Approved		uc002eyn.1	P49588	OTTHUMG00000177042	ENST00000261772.8:c.601G>A	16.37:g.70305754C>T	ENSP00000261772:p.Ala201Thr						p.A201T	NM_001605.2	NP_001596.2	P49588	SYAC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.161)	5	744	-		Ovarian(137;0.0365)	201						Missense_Mutation	SNP	ENST00000261772.8	37	c.601G>A	CCDS32474.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.559735	0.65538	.	.	ENSG00000090861	ENST00000261772	T	0.72167	-0.63	5.92	5.92	0.95590	Alanyl-tRNA synthetase, class IIc, core domain (1);Alanyl-tRNA synthetase, class IIc, N-terminal (1);	0.208972	0.49305	N	0.000142	T	0.72748	0.3499	M	0.70595	2.14	0.53005	D	0.999967	P;P	0.38250	0.624;0.47	B;B	0.39152	0.292;0.2	T	0.72381	-0.4311	10	0.39692	T	0.17	-7.8943	17.8019	0.88590	0.0:1.0:0.0:0.0	.	209;201	E7ETK8;P49588	.;SYAC_HUMAN	T	201	ENSP00000261772:A201T	ENSP00000261772:A201T	A	-	1	0	AARS	68863255	0.187000	0.23238	0.931000	0.37212	0.630000	0.37929	0.806000	0.27126	2.795000	0.96236	0.655000	0.94253	GCA		0.542	AARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435021.2	NM_001605		4	68	0	0	0	1	0	4	68				
ADAMTS10	81794	broad.mit.edu	37	19	8654353	8654353	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr19:8654353C>T	ENST00000597188.1	-	17	2287	c.2017G>A	c.(2017-2019)Gtc>Atc	p.V673I	ADAMTS10_ENST00000595838.1_Missense_Mutation_p.V160I|ADAMTS10_ENST00000270328.4_Missense_Mutation_p.V673I	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	673	Cys-rich.					extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						TCGCCACTGACGCAAATGTCC	0.657																																						ENST00000270328.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						c.(2017-2019)Gtc>Atc		ADAM metallopeptidase with thrombospondin type 1 motif, 10							75.0	78.0	77.0					19																	8654353		2203	4300	6503	SO:0001583	missense	81794				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:8654353C>T	AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13201	protein-coding gene	gene with protein product		608990	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"""				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.2017G>A	19.37:g.8654353C>T	ENSP00000471851:p.Val673Ile					ADAMTS10_ENST00000597188.1_Missense_Mutation_p.V673I|ADAMTS10_ENST00000595838.1_Missense_Mutation_p.V160I	p.V673I			Q9H324	ATS10_HUMAN			16	2283	-			673			Cys-rich.		M0QZE4	Missense_Mutation	SNP	ENST00000597188.1	37	c.2017G>A	CCDS12206.1	.	.	.	.	.	.	.	.	.	.	C	9.129	1.010961	0.19277	.	.	ENSG00000142303	ENST00000270328;ENST00000393912	T	0.61742	0.08	5.03	5.03	0.67393	.	0.000000	0.64402	U	0.000003	T	0.31263	0.0791	N	0.05050	-0.12	0.80722	D	1	B;B;P	0.35959	0.098;0.161;0.53	B;B;B	0.28553	0.014;0.028;0.091	T	0.36625	-0.9740	10	0.06494	T	0.89	.	17.3415	0.87297	0.0:1.0:0.0:0.0	.	427;673;160	Q59FE5;Q9H324;E9PCI6	.;ATS10_HUMAN;.	I	673;427	ENSP00000270328:V673I	ENSP00000270328:V673I	V	-	1	0	ADAMTS10	8560353	1.000000	0.71417	0.995000	0.50966	0.819000	0.46315	4.585000	0.60977	2.314000	0.78098	0.655000	0.94253	GTC		0.657	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957		6	67	0	0	0	1	0	6	67				
ETV5	2119	broad.mit.edu	37	3	185769859	185769859	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr3:185769859C>T	ENST00000306376.5	-	12	1517	c.1271G>A	c.(1270-1272)cGc>cAc	p.R424H	ETV5_ENST00000434744.1_Missense_Mutation_p.R424H|ETV5_ENST00000480706.1_5'UTR|ETV5_ENST00000537818.1_Missense_Mutation_p.R466H	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	424					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|locomotory behavior (GO:0007626)|male germ-line stem cell asymmetric division (GO:0048133)|neuromuscular synaptic transmission (GO:0007274)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of synapse organization (GO:0050807)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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 RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			GCGGAGAGAGCGGCTCAGCTT	0.502			T	"""TMPRSS2, SCL45A3"""	Prostate																																	ENST00000306376.5				Dom	yes		3	3q28	2119	T	ets variant gene 5			E	"""TMPRSS2, SCL45A3"""		Prostate		0				breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28						c.(1270-1272)cGc>cAc		ets variant 5							151.0	144.0	146.0					3																	185769859		2203	4300	6503	SO:0001583	missense	2119				cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr3:185769859C>T	BC007333	CCDS33906.1	3q28	2008-09-12	2008-09-12		ENSG00000244405	ENSG00000244405			3494	protein-coding gene	gene with protein product	"""ets-related molecule"""	601600	"""ets variant gene 5 (ets-related molecule)"""			8152800	Standard	NM_004454		Approved	ERM	uc003fpz.3	P41161	OTTHUMG00000156639	ENST00000306376.5:c.1271G>A	3.37:g.185769859C>T	ENSP00000306894:p.Arg424His					ETV5_ENST00000537818.1_Missense_Mutation_p.R466H|ETV5_ENST00000480706.1_5'UTR|ETV5_ENST00000434744.1_Missense_Mutation_p.R424H	p.R424H	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)		12	1517	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		424					A6NH46|B7Z7D7|Q6IBN5	Missense_Mutation	SNP	ENST00000306376.5	37	c.1271G>A	CCDS33906.1	.	.	.	.	.	.	.	.	.	.	C	31	5.099068	0.94197	.	.	ENSG00000244405	ENST00000306376;ENST00000434744;ENST00000537818	T;T;T	0.70516	-0.49;-0.49;-0.49	5.76	5.76	0.90799	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (5);	0.000000	0.85682	D	0.000000	D	0.85771	0.5774	M	0.92412	3.305	0.58432	D	0.999997	D;P	0.64830	0.994;0.952	P;P	0.55785	0.784;0.643	D	0.88987	0.3412	10	0.87932	D	0	.	18.7291	0.91728	0.0:1.0:0.0:0.0	.	424;466	P41161;B7Z7D7	ETV5_HUMAN;.	H	424;424;466	ENSP00000306894:R424H;ENSP00000413755:R424H;ENSP00000441737:R466H	ENSP00000306894:R424H	R	-	2	0	ETV5	187252553	1.000000	0.71417	0.990000	0.47175	0.990000	0.78478	7.818000	0.86416	2.706000	0.92434	0.591000	0.81541	CGC		0.502	ETV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344947.1	NM_004454		13	111	0	0	0	1	0	13	111				
PTPLAD1	51495	broad.mit.edu	37	15	65868658	65868658	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr15:65868658C>T	ENST00000261875.5	+	11	1196	c.1030C>T	c.(1030-1032)Cgt>Tgt	p.R344C	PTPLAD1_ENST00000569894.1_Missense_Mutation_p.R227C|PTPLAD1_ENST00000562901.1_Missense_Mutation_p.R227C|PTPLAD1_ENST00000561763.1_3'UTR|PTPLAD1_ENST00000568793.1_Missense_Mutation_p.R319C|PTPLAD1_ENST00000565299.1_Missense_Mutation_p.R382C|PTPLAD1_ENST00000566511.1_Missense_Mutation_p.R227C|PTPLAD1_ENST00000566074.1_Missense_Mutation_p.R227C|PTPLAD1_ENST00000442729.2_Missense_Mutation_p.R289C	NM_016395.2	NP_057479.2	Q9P035	HACD3_HUMAN	protein tyrosine phosphatase-like A domain containing 1	344					activation of JUN kinase activity (GO:0007257)|fatty acid biosynthetic process (GO:0006633)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|positive regulation of GTPase activity (GO:0043547)|Rac protein signal transduction (GO:0016601)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)	GTPase activator activity (GO:0005096)|lyase activity (GO:0016829)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|pancreas(1)	5						CATAAATTTTCGTCACCTTTA	0.358																																						ENST00000261875.5																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|pancreas(1)	5						c.(1030-1032)Cgt>Tgt		protein tyrosine phosphatase-like A domain containing 1							52.0	46.0	47.0					15																	65868658		1798	4064	5862	SO:0001583	missense	51495				activation of JUN kinase activity|fatty acid biosynthetic process|I-kappaB kinase/NF-kappaB cascade|Rac protein signal transduction	endoplasmic reticulum membrane|integral to membrane	GTPase activator activity|lyase activity|protein binding	g.chr15:65868658C>T		CCDS45282.1	15q22.2	2005-11-11				ENSG00000074696			24175	protein-coding gene	gene with protein product		615940				10747961, 11042152	Standard	NM_016395		Approved	B-ind1, HSPC121	uc002apc.3	Q9P035		ENST00000261875.5:c.1030C>T	15.37:g.65868658C>T	ENSP00000261875:p.Arg344Cys					PTPLAD1_ENST00000568793.1_Missense_Mutation_p.R319C|PTPLAD1_ENST00000561763.1_3'UTR|PTPLAD1_ENST00000562901.1_Missense_Mutation_p.R227C|PTPLAD1_ENST00000566511.1_Missense_Mutation_p.R227C|PTPLAD1_ENST00000442729.2_Missense_Mutation_p.R289C|PTPLAD1_ENST00000566074.1_Missense_Mutation_p.R227C|PTPLAD1_ENST00000569894.1_Missense_Mutation_p.R227C|PTPLAD1_ENST00000565299.1_Missense_Mutation_p.R382C	p.R344C	NM_016395.2	NP_057479.2	Q9P035	HACD3_HUMAN			11	1196	+			344					A0PJA1|B4DRF4|Q280Z3|Q6PD63|Q8IUI5|Q8NC86|Q8NCB1|Q96T12|Q9NQA7	Missense_Mutation	SNP	ENST00000261875.5	37	c.1030C>T	CCDS45282.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.876999	0.91664	.	.	ENSG00000074696	ENST00000442729;ENST00000261875	T;T	0.31247	1.5;1.5	5.34	5.34	0.76211	.	0.050642	0.85682	D	0.000000	T	0.58595	0.2133	M	0.77616	2.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.98	T	0.54234	-0.8324	10	0.39692	T	0.17	-10.1934	19.5946	0.95530	0.0:1.0:0.0:0.0	.	289;344	B4DRF4;Q9P035	.;HACD3_HUMAN	C	289;344	ENSP00000392491:R289C;ENSP00000261875:R344C	ENSP00000261875:R344C	R	+	1	0	PTPLAD1	63655711	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.015000	0.57152	2.937000	0.99478	0.650000	0.86243	CGT		0.358	PTPLAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419739.1	NM_016395		4	12	0	0	0	1	0	4	12				
UTRN	7402	broad.mit.edu	37	6	145157535	145157535	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr6:145157535C>T	ENST00000367545.3	+	70	9923	c.9923C>T	c.(9922-9924)aCg>aTg	p.T3308M	UTRN_ENST00000367526.4_Missense_Mutation_p.T863M	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	3308					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CCCCATCACACGTCTGAGGAT	0.502																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(9922-9924)aCg>aTg		utrophin							104.0	106.0	105.0					6																	145157535		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:145157535C>T	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.9923C>T	6.37:g.145157535C>T	ENSP00000356515:p.Thr3308Met					UTRN_ENST00000367526.4_Missense_Mutation_p.T863M	p.T3308M	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	70	9923	+		Ovarian(120;0.218)	3308					Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.9923C>T	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.676677	0.29783	.	.	ENSG00000152818	ENST00000367545;ENST00000367526	T;T	0.60920	0.15;3.46	5.91	5.04	0.67666	.	0.114707	0.39341	N	0.001393	T	0.20047	0.0482	N	0.08118	0	0.26693	N	0.971315	P	0.46020	0.871	B	0.39503	0.301	T	0.10268	-1.0637	10	0.59425	D	0.04	.	9.4248	0.38572	0.1439:0.7848:0.0:0.0713	.	3308	P46939	UTRO_HUMAN	M	3308;863	ENSP00000356515:T3308M;ENSP00000356496:T863M	ENSP00000356496:T863M	T	+	2	0	UTRN	145199228	0.849000	0.29639	0.932000	0.37286	0.321000	0.28281	1.096000	0.30976	2.813000	0.96785	0.655000	0.94253	ACG		0.502	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			13	153	0	0	0	1	0	13	153				
PLPPR5	163404	broad.mit.edu	37	1	99387499	99387499	+	Missense_Mutation	SNP	C	C	G			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr1:99387499C>G	ENST00000263177.4	-	4	958	c.737G>C	c.(736-738)cGa>cCa	p.R246P	LPPR5_ENST00000370188.3_Missense_Mutation_p.R246P	NM_001037317.1	NP_001032394.1	Q32ZL2	LPPR5_HUMAN		246						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)										CCAATGATTTCGATATTCTGC	0.363																																						ENST00000370188.3																			0											c.(736-738)cGa>cCa									147.0	142.0	144.0					1																	99387499		2203	4300	6503	SO:0001583	missense	0					integral to membrane	hydrolase activity	g.chr1:99387499C>G																												ENST00000263177.4:c.737G>C	1.37:g.99387499C>G	ENSP00000263177:p.Arg246Pro					LPPR5_ENST00000263177.4_Missense_Mutation_p.R246P	p.R246P	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN			4	1097	-			246					A8MPX4|B7UCH3|Q32ZD0|Q3ZCU7	Missense_Mutation	SNP	ENST00000263177.4	37	c.737G>C	CCDS30778.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.616048	0.87359	.	.	ENSG00000117598	ENST00000370188;ENST00000263177	T;T	0.75704	-0.96;-0.96	5.4	5.4	0.78164	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.134093	0.52532	D	0.000064	D	0.88160	0.6362	M	0.91717	3.235	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.90467	0.4450	10	0.87932	D	0	.	18.1643	0.89719	0.0:1.0:0.0:0.0	.	246;246	Q32ZL2-2;Q32ZL2	.;LPPR5_HUMAN	P	246	ENSP00000359207:R246P;ENSP00000263177:R246P	ENSP00000263177:R246P	R	-	2	0	AL161744.1	99160087	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.487000	0.81328	2.528000	0.85240	0.460000	0.39030	CGA		0.363	LPPR5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393221.1			13	64	0	0	0	1	0	13	64				
ELN	2006	broad.mit.edu	37	7	73456962	73456962	+	Missense_Mutation	SNP	C	C	A			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr7:73456962C>A	ENST00000252034.7	+	6	650	c.251C>A	c.(250-252)gCa>gAa	p.A84E	ELN_ENST00000458204.1_Missense_Mutation_p.A74E|ELN_ENST00000357036.5_Missense_Mutation_p.A84E|ELN_ENST00000320492.7_Missense_Mutation_p.A72E|ELN_ENST00000380553.4_Intron|ELN_ENST00000380584.4_Missense_Mutation_p.A84E|ELN_ENST00000380575.4_Missense_Mutation_p.A74E|ELN_ENST00000380562.4_Missense_Mutation_p.A84E|ELN_ENST00000380576.5_Missense_Mutation_p.A84E|ELN_ENST00000429192.1_Missense_Mutation_p.A84E|ELN_ENST00000320399.6_Missense_Mutation_p.A84E|ELN_ENST00000414324.1_Missense_Mutation_p.A74E|ELN_ENST00000445912.1_Missense_Mutation_p.A84E|ELN_ENST00000358929.4_Missense_Mutation_p.A84E	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	84					blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				GCCTTCCCCGCAGTTACCTTT	0.637			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""																															ENST00000252034.7				Dom	yes		7	7q11.23	2006	T	elastin	yes	"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""	L	PAX5		B-ALL		0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32						c.(250-252)gCa>gAa		elastin	Rofecoxib(DB00533)						62.0	63.0	62.0					7																	73456962		2203	4300	6503	SO:0001583	missense	2006				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding	g.chr7:73456962C>A		CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"""tropoelastin"", ""supravalvular aortic stenosis"", ""Williams-Beuren syndrome"""	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.251C>A	7.37:g.73456962C>A	ENSP00000252034:p.Ala84Glu					ELN_ENST00000445912.1_Missense_Mutation_p.A84E|ELN_ENST00000429192.1_Missense_Mutation_p.A84E|ELN_ENST00000458204.1_Missense_Mutation_p.A74E|ELN_ENST00000380553.4_Intron|ELN_ENST00000414324.1_Missense_Mutation_p.A74E|ELN_ENST00000380575.4_Missense_Mutation_p.A74E|ELN_ENST00000380562.4_Missense_Mutation_p.A84E|ELN_ENST00000357036.5_Missense_Mutation_p.A84E|ELN_ENST00000320399.6_Missense_Mutation_p.A84E|ELN_ENST00000320492.7_Missense_Mutation_p.A72E|ELN_ENST00000380584.4_Missense_Mutation_p.A84E|ELN_ENST00000358929.4_Missense_Mutation_p.A84E|ELN_ENST00000380576.5_Missense_Mutation_p.A84E	p.A84E	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN			6	650	+		Lung NSC(55;0.159)	84					B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Missense_Mutation	SNP	ENST00000252034.7	37	c.251C>A	CCDS5562.2	.	.	.	.	.	.	.	.	.	.	C	12.33	1.904789	0.33628	.	.	ENSG00000049540	ENST00000445912;ENST00000252034;ENST00000358929;ENST00000431562;ENST00000320492;ENST00000438906;ENST00000414324;ENST00000380562;ENST00000380575;ENST00000380584;ENST00000458204;ENST00000357036;ENST00000417091;ENST00000429192;ENST00000442310;ENST00000380576;ENST00000428787;ENST00000320399	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.48836	1.18;1.19;1.16;1.37;0.8;1.23;1.19;1.2;1.21;1.2;1.19;1.18;1.2;1.17	3.92	-2.38	0.06622	.	.	.	.	.	T	0.33990	0.0882	L	0.51422	1.61	0.09310	N	1	P;P;P;P;P;P;P;P;P;P;P;P	0.36535	0.557;0.557;0.557;0.557;0.557;0.557;0.557;0.557;0.557;0.557;0.557;0.557	B;B;B;B;B;B;B;B;B;B;B;B	0.30572	0.117;0.117;0.117;0.117;0.117;0.117;0.117;0.117;0.117;0.117;0.117;0.117	T	0.16482	-1.0401	9	0.27785	T	0.31	-0.4892	9.288	0.37769	0.0:0.2476:0.6469:0.1055	.	84;72;74;74;84;74;84;84;84;74;84;84	E7ENM0;G5E950;G3V0G6;E7EN65;P15502-1;P15502-7;P15502-12;P15502-5;P15502-13;B3KRT8;P15502-8;P15502-2	.;.;.;.;.;.;.;.;.;.;.;.	E	84;84;84;62;72;72;74;84;74;84;74;84;84;84;84;84;84;84	ENSP00000389857:A84E;ENSP00000252034:A84E;ENSP00000351807:A84E;ENSP00000315607:A72E;ENSP00000406949:A72E;ENSP00000392575:A74E;ENSP00000369936:A84E;ENSP00000369949:A74E;ENSP00000369958:A84E;ENSP00000403162:A74E;ENSP00000349540:A84E;ENSP00000391129:A84E;ENSP00000369950:A84E;ENSP00000313565:A84E	ENSP00000252034:A84E	A	+	2	0	ELN	73094898	0.028000	0.19301	0.003000	0.11579	0.022000	0.10575	0.107000	0.15375	-0.286000	0.09076	0.462000	0.41574	GCA		0.637	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501		10	52	1	0	1	1	1	10	52				
KIF13A	63971	broad.mit.edu	37	6	17779890	17779890	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr6:17779890C>T	ENST00000259711.6	-	32	3977	c.3872G>A	c.(3871-3873)aGa>aAa	p.R1291K	KIF13A_ENST00000378814.5_Missense_Mutation_p.R1278K|KIF13A_ENST00000378843.2_Missense_Mutation_p.R1278K|KIF13A_ENST00000378816.5_Missense_Mutation_p.R1291K|KIF13A_ENST00000378826.2_Missense_Mutation_p.R1291K	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1291					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CAGGGATATTCTCCTCTTCAA	0.299																																						ENST00000378814.5																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(3832-3834)aGa>aAa		kinesin family member 13A							33.0	35.0	35.0					6																	17779890		1808	4067	5875	SO:0001583	missense	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17779890C>T	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.3872G>A	6.37:g.17779890C>T	ENSP00000259711:p.Arg1291Lys					KIF13A_ENST00000378816.5_Missense_Mutation_p.R1291K|KIF13A_ENST00000378843.2_Missense_Mutation_p.R1278K|KIF13A_ENST00000259711.6_Missense_Mutation_p.R1291K|KIF13A_ENST00000378826.2_Missense_Mutation_p.R1291K	p.R1278K	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		31	3832	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	1291					A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	37	c.3833G>A	CCDS47381.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.19|19.19	3.779601|3.779601	0.70107|0.70107	.|.	.|.	ENSG00000137177|ENSG00000137177	ENST00000358380|ENST00000378814;ENST00000502297;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	.|T;T;T;T;T;T	.|0.70869	.|-0.49;1.89;-0.52;-0.48;-0.49;-0.48	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.49253|0.49253	0.1546|0.1546	L|L	0.39514|0.39514	1.22|1.22	0.58432|0.58432	D|D	0.999992|0.999992	.|B;B;B;P	.|0.34412	.|0.144;0.28;0.089;0.453	.|B;B;B;B	.|0.36186	.|0.219;0.13;0.034;0.172	T|T	0.56019|0.56019	-0.8048|-0.8048	5|10	.|0.06891	.|T	.|0.86	.|.	19.7743|19.7743	0.96385|0.96385	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1278;1291;1291;1278	.|Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.|.;.;KI13A_HUMAN;.	K|K	685|1278;295;1291;1291;1278;1291	.|ENSP00000368091:R1278K;ENSP00000425616:R295K;ENSP00000259711:R1291K;ENSP00000368103:R1291K;ENSP00000368120:R1278K;ENSP00000368093:R1291K	.|ENSP00000259711:R1291K	E|R	-|-	1|2	0|0	KIF13A|KIF13A	17887869|17887869	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	7.294000|7.294000	0.78760|0.78760	2.663000|2.663000	0.90544|0.90544	0.557000|0.557000	0.71058|0.71058	GAA|AGA		0.299	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			13	30	0	0	0	1	0	13	30				
FAM47C	442444	broad.mit.edu	37	X	37028160	37028160	+	Silent	SNP	C	C	T			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chrX:37028160C>T	ENST00000358047.3	+	1	1729	c.1677C>T	c.(1675-1677)cgC>cgT	p.R559R		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	559										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCCATCTCCGCCCAGAGCCTC	0.612																																						ENST00000358047.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1675-1677)cgC>cgT		family with sequence similarity 47, member C							49.0	55.0	53.0					X																	37028160		2181	4283	6464	SO:0001819	synonymous_variant	442444							g.chrX:37028160C>T	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1677C>T	X.37:g.37028160C>T							p.R559R	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1729	+			559					Q6ZU46	Silent	SNP	ENST00000358047.3	37	c.1677C>T	CCDS35227.1																																																																																				0.612	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		36	12	0	0	0	1	0	36	12				
OR5M8	219484	broad.mit.edu	37	11	56257968	56257968	+	Missense_Mutation	SNP	A	A	C			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr11:56257968A>C	ENST00000327216.2	-	1	903	c.879T>G	c.(877-879)aaT>aaG	p.N293K		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	293						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					TTACATTTTTATTTCTAAGGC	0.328																																						ENST00000327216.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(877-879)aaT>aaG		olfactory receptor, family 5, subfamily M, member 8							38.0	43.0	42.0					11																	56257968		2200	4293	6493	SO:0001583	missense	219484				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56257968A>C	AB065744	CCDS31533.1	11q11	2012-08-09			ENSG00000181371	ENSG00000181371		"""GPCR / Class A : Olfactory receptors"""	14846	protein-coding gene	gene with protein product							Standard	NM_001005282		Approved		uc001nix.1	Q8NGP6	OTTHUMG00000166877	ENST00000327216.2:c.879T>G	11.37:g.56257968A>C	ENSP00000323354:p.Asn293Lys						p.N293K	NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN			1	903	-	Esophageal squamous(21;0.00352)		293					B2RNM5|Q6IEW3|Q96RB8	Missense_Mutation	SNP	ENST00000327216.2	37	c.879T>G	CCDS31533.1	.	.	.	.	.	.	.	.	.	.	A	5.459	0.269831	0.10349	.	.	ENSG00000181371	ENST00000327216	T	0.50001	0.76	4.35	-3.65	0.04502	.	0.000000	0.35096	U	0.003442	T	0.58708	0.2141	H	0.96943	3.91	0.09310	N	1	P	0.39847	0.691	B	0.40228	0.323	T	0.63427	-0.6640	10	0.87932	D	0	-16.2852	11.7121	0.51630	0.4609:0.0:0.5391:0.0	.	293	Q8NGP6	OR5M8_HUMAN	K	293	ENSP00000323354:N293K	ENSP00000323354:N293K	N	-	3	2	OR5M8	56014544	0.000000	0.05858	0.354000	0.25760	0.008000	0.06430	-0.578000	0.05841	-0.671000	0.05274	-0.281000	0.10026	AAT		0.328	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391641.1	NM_001005282		17	30	0	0	0	1	0	17	30				
FRG1B	284802	broad.mit.edu	37	20	29628300	29628300	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr20:29628300G>A	ENST00000278882.3	+	6	682	c.302G>A	c.(301-303)aGt>aAt	p.S101N	FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	101								p.S101N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAGCAAAAAGTAAAACAGCA	0.358																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.S101N(2)	prostate(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(301-303)aGt>aAt																																						SO:0001583	missense	0							g.chr20:29628300G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.302G>A	20.37:g.29628300G>A	ENSP00000278882:p.Ser101Asn					FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N	p.S101N							6	682	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.302G>A		.	.	.	.	.	.	.	.	.	.	g	10.56	1.384968	0.25031	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.125588	0.64402	N	0.000001	T	0.33265	0.0857	.	.	.	0.40357	D	0.979199	B;B	0.16802	0.003;0.019	B;B	0.16289	0.007;0.015	T	0.20605	-1.0270	9	0.33940	T	0.23	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	106;101	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	N	101;106;101	ENSP00000408863:S106N	ENSP00000278882:S101N	S	+	2	0	FRG1B	28241961	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	2.004000	0.40854	1.475000	0.48197	0.423000	0.28283	AGT		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	61	0	0	0	1	0	4	61				
SLC9C2	284525	broad.mit.edu	37	1	173495815	173495815	+	Silent	SNP	A	A	G			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr1:173495815A>G	ENST00000367714.3	-	19	2774	c.2352T>C	c.(2350-2352)gcT>gcC	p.A784A	SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_3'UTR	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	784					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										ATTCTTTGACAGCATCCTGTT	0.259																																						ENST00000367714.3																			0											c.(2350-2352)gcT>gcC		solute carrier family 9, member C2 (putative)							97.0	97.0	97.0					1																	173495815		2203	4300	6503	SO:0001819	synonymous_variant	284525				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	g.chr1:173495815A>G	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.2352T>C	1.37:g.173495815A>G						SLC9C2_ENST00000536496.1_3'UTR|SLC9C2_ENST00000466087.1_5'UTR	p.A784A	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN			19	2774	-			784					Q86UF3	Silent	SNP	ENST00000367714.3	37	c.2352T>C	CCDS1308.1																																																																																				0.259	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527		10	62	0	0	0	1	0	10	62				
PCDHA12	56137	broad.mit.edu	37	5	140256502	140256502	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr5:140256502C>T	ENST00000398631.2	+	1	1445	c.1445C>T	c.(1444-1446)gCg>gTg	p.A482V	PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	482	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCATGGGACGCGGACGCGCAG	0.662																																					Pancreas(113;759 1672 13322 24104 50104)	ENST00000398631.2																			0				NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(1444-1446)gCg>gTg									82.0	84.0	83.0					5																	140256502		2203	4300	6503	SO:0001583	missense	0							g.chr5:140256502C>T	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1445C>T	5.37:g.140256502C>T	ENSP00000381628:p.Ala482Val					PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron	p.A482V	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1445	+								O75278|Q2M1N8	Missense_Mutation	SNP	ENST00000398631.2	37	c.1445C>T	CCDS47285.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.231262	0.79688	.	.	ENSG00000251664	ENST00000398631	T	0.01228	5.14	5.22	5.22	0.72569	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.03011	0.0089	L	0.38649	1.16	0.33090	D	0.537793	P;P	0.38167	0.568;0.621	B;B	0.43478	0.133;0.421	T	0.37267	-0.9713	9	0.72032	D	0.01	.	18.8361	0.92164	0.0:1.0:0.0:0.0	.	482;482	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	V	482	ENSP00000381628:A482V	ENSP00000381628:A482V	A	+	2	0	PCDHA12	140236686	0.000000	0.05858	1.000000	0.80357	0.981000	0.71138	0.878000	0.28126	2.452000	0.82932	0.650000	0.86243	GCG		0.662	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		5	98	0	0	0	1	0	5	98				
C4BPA	722	broad.mit.edu	37	1	207317225	207317225	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr1:207317225G>A	ENST00000367070.3	+	11	1701	c.1507G>A	c.(1507-1509)Gag>Aag	p.E503K		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	503	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						TCAGTATGTTGAGCCTGAAAA	0.433																																						ENST00000367070.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						c.(1507-1509)Gag>Aag		complement component 4 binding protein, alpha							237.0	208.0	218.0					1																	207317225		2203	4300	6503	SO:0001583	missense	722				complement activation, classical pathway|innate immune response	extracellular region	protein binding	g.chr1:207317225G>A	M31452	CCDS1477.1	1q32	2010-09-24	2001-11-28		ENSG00000123838	ENSG00000123838			1325	protein-coding gene	gene with protein product		120830	"""complement component 4-binding protein, alpha"""	C4BP			Standard	XM_005273251		Approved		uc001hfo.3	P04003	OTTHUMG00000036173	ENST00000367070.3:c.1507G>A	1.37:g.207317225G>A	ENSP00000356037:p.Glu503Lys						p.E503K	NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN			11	1701	+			503			Sushi 8.		Q5VVQ8	Missense_Mutation	SNP	ENST00000367070.3	37	c.1507G>A	CCDS1477.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.413416	0.62511	.	.	ENSG00000123838	ENST00000367070	T	0.65549	-0.16	5.29	2.35	0.29111	Complement control module (2);Sushi/SCR/CCP (3);	0.672868	0.13688	N	0.369728	T	0.73337	0.3574	M	0.84683	2.71	0.09310	N	1	P	0.52316	0.952	P	0.58620	0.842	T	0.60291	-0.7292	10	0.36615	T	0.2	.	6.0393	0.19726	0.1815:0.1709:0.6475:0.0	.	503	P04003	C4BPA_HUMAN	K	503	ENSP00000356037:E503K	ENSP00000356037:E503K	E	+	1	0	C4BPA	205383848	0.013000	0.17824	0.005000	0.12908	0.123000	0.20343	0.993000	0.29680	0.724000	0.32296	0.650000	0.86243	GAG		0.433	C4BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088089.3			4	53	0	0	0	1	0	4	53				
MAP2K7	5609	broad.mit.edu	37	19	7976415	7976415	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr19:7976415C>T	ENST00000397979.3	+	9	1085	c.1031C>T	c.(1030-1032)cCc>cTc	p.P344L	MAP2K7_ENST00000397983.3_Missense_Mutation_p.P360L|MAP2K7_ENST00000545011.1_Missense_Mutation_p.P386L|CTD-3193O13.13_ENST00000595655.1_RNA|MAP2K7_ENST00000397981.3_Missense_Mutation_p.P351L	NM_145185.2	NP_660186.1	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	344	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of neuron apoptotic process (GO:0043525)|response to heat (GO:0009408)|response to osmotic stress (GO:0006970)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						CCGCTTCTGCCCGGACACATG	0.592																																						ENST00000545011.1																			0				breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						c.(1156-1158)cCc>cTc		mitogen-activated protein kinase kinase 7	Etoposide(DB00773)						26.0	29.0	28.0					19																	7976415		1871	4091	5962	SO:0001583	missense	5609				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr19:7976415C>T	AF006689	CCDS42491.1, CCDS74277.1, CCDS74278.1	19p13.3-p13.2	2011-06-09			ENSG00000076984	ENSG00000076984	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6847	protein-coding gene	gene with protein product		603014		PRKMK7		9312068	Standard	XM_005272489		Approved	MKK7, Jnkk2	uc002mit.3	O14733	OTTHUMG00000137368	ENST00000397979.3:c.1031C>T	19.37:g.7976415C>T	ENSP00000381066:p.Pro344Leu					MAP2K7_ENST00000397981.3_Missense_Mutation_p.P351L|MAP2K7_ENST00000397979.3_Missense_Mutation_p.P344L|MAP2K7_ENST00000397983.3_Missense_Mutation_p.P360L	p.P386L			O14733	MP2K7_HUMAN			9	1222	+			344					B2R9S5|D6W659|O14648|O14816|O60452|O60453|Q1PG43|Q8IY10	Missense_Mutation	SNP	ENST00000397979.3	37	c.1157C>T	CCDS42491.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.015574	0.93404	.	.	ENSG00000076984	ENST00000397981;ENST00000397983;ENST00000545011;ENST00000425613;ENST00000397979	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	4.66	4.66	0.58398	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.77579	0.4151	M	0.78916	2.43	0.80722	D	1	D;D	0.63046	0.982;0.992	D;D	0.63877	0.909;0.919	T	0.80951	-0.1153	10	0.87932	D	0	-6.0476	15.4274	0.75065	0.0:1.0:0.0:0.0	.	351;344	O14733-4;O14733	.;MP2K7_HUMAN	L	351;360;386;360;344	ENSP00000381068:P351L;ENSP00000381070:P360L;ENSP00000443946:P386L;ENSP00000381066:P344L	ENSP00000381066:P344L	P	+	2	0	MAP2K7	7882415	1.000000	0.71417	0.980000	0.43619	0.804000	0.45430	4.586000	0.60984	2.573000	0.86826	0.655000	0.94253	CCC		0.592	MAP2K7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000267980.1			3	13	0	0	0	1	0	3	13				
CD22	933	broad.mit.edu	37	19	35831815	35831815	+	Silent	SNP	A	A	G			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr19:35831815A>G	ENST00000085219.5	+	7	1347	c.1281A>G	c.(1279-1281)caA>caG	p.Q427Q	CD22_ENST00000594250.1_Silent_p.Q250Q|CD22_ENST00000270311.6_Silent_p.Q307Q|CD22_ENST00000536635.2_Silent_p.Q339Q|CD22_ENST00000544992.2_Silent_p.Q427Q|CD22_ENST00000419549.2_Silent_p.Q255Q|CD22_ENST00000341773.6_Silent_p.Q250Q	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	427	Ig-like C2-type 4.				cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CAGTGATTCAAAACCCCATGC	0.507																																					Ovarian(42;1009 1133 23674 26041)	ENST00000085219.5																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54						c.(1279-1281)caA>caG		CD22 molecule	OspA lipoprotein(DB00045)						128.0	114.0	119.0					19																	35831815		2203	4300	6503	SO:0001819	synonymous_variant	933				cell adhesion		protein binding|sugar binding	g.chr19:35831815A>G	X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1643	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 2"""	107266	"""CD22 antigen"""			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.1281A>G	19.37:g.35831815A>G						CD22_ENST00000419549.2_Silent_p.Q255Q|CD22_ENST00000341773.6_Silent_p.Q250Q|CD22_ENST00000536635.2_Silent_p.Q339Q|CD22_ENST00000594250.1_Silent_p.Q250Q|CD22_ENST00000270311.6_Silent_p.Q307Q|CD22_ENST00000544992.2_Silent_p.Q427Q	p.Q427Q	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		7	1347	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		427			Ig-like C2-type 4.		F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Silent	SNP	ENST00000085219.5	37	c.1281A>G	CCDS12457.1																																																																																				0.507	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771		3	83	0	0	0	1	0	3	83				
MYO1D	4642	broad.mit.edu	37	17	31099824	31099824	+	Missense_Mutation	SNP	A	A	C			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr17:31099824A>C	ENST00000318217.5	-	5	905	c.601T>G	c.(601-603)Ttt>Gtt	p.F201V	MYO1D_ENST00000579584.1_Missense_Mutation_p.F201V|MYO1D_ENST00000394649.4_Missense_Mutation_p.F113V|MYO1D_ENST00000583621.1_Missense_Mutation_p.F201V	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	201	Myosin motor.				early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			AAAGAATGAAAGCTTCTTTCT	0.393																																						ENST00000318217.5																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(601-603)Ttt>Gtt		myosin ID							141.0	148.0	146.0					17																	31099824		2203	4300	6503	SO:0001583	missense	4642					myosin complex	actin binding|ATP binding|calmodulin binding	g.chr17:31099824A>C	AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"""Myosins / Myosin superfamily : Class I"""	7598	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 108"""	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.601T>G	17.37:g.31099824A>C	ENSP00000324527:p.Phe201Val					MYO1D_ENST00000583621.1_Missense_Mutation_p.F201V|MYO1D_ENST00000394649.4_Missense_Mutation_p.F113V|MYO1D_ENST00000579584.1_Missense_Mutation_p.F201V	p.F201V	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0362)		5	905	-			201			Myosin head-like.		A6H8V3|Q8NHP9	Missense_Mutation	SNP	ENST00000318217.5	37	c.601T>G	CCDS32615.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.277857	0.80692	.	.	ENSG00000176658	ENST00000318217	T	0.79141	-1.24	5.49	5.49	0.81192	Myosin head, motor domain (2);	0.000000	0.40818	U	0.001012	D	0.88213	0.6376	H	0.97659	4.05	0.80722	D	1	P;P	0.44260	0.83;0.83	P;P	0.46940	0.532;0.532	D	0.91613	0.5304	10	0.87932	D	0	.	13.5371	0.61652	1.0:0.0:0.0:0.0	.	112;201	Q7Z3N6;O94832	.;MYO1D_HUMAN	V	201	ENSP00000324527:F201V	ENSP00000324527:F201V	F	-	1	0	MYO1D	28123937	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.461000	0.90372	2.070000	0.61991	0.528000	0.53228	TTT		0.393	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447457.1			5	207	0	0	0	1	0	5	207				
MUC17	140453	broad.mit.edu	37	7	100679543	100679543	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr7:100679543G>A	ENST00000306151.4	+	3	4910	c.4846G>A	c.(4846-4848)Gct>Act	p.A1616T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1616	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.A1616T(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ATCTACAACCGCTGAAGGTAG	0.502																																						ENST00000306151.4																			1	Substitution - Missense(1)	p.A1616T(1)	lung(1)	NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(4846-4848)Gct>Act		mucin 17, cell surface associated							200.0	203.0	202.0					7																	100679543		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100679543G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.4846G>A	7.37:g.100679543G>A	ENSP00000302716:p.Ala1616Thr						p.A1616T	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	4910	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1616			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.4846G>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	3.466	-0.109007	0.06924	.	.	ENSG00000169876	ENST00000306151	T	0.02085	4.46	0.806	0.806	0.18708	.	.	.	.	.	T	0.00998	0.0033	N	0.14661	0.345	0.09310	N	1	B	0.33171	0.4	B	0.17098	0.017	T	0.39143	-0.9628	9	0.02654	T	1	.	5.0545	0.14525	0.0:0.0:1.0:0.0	.	1616	Q685J3	MUC17_HUMAN	T	1616	ENSP00000302716:A1616T	ENSP00000302716:A1616T	A	+	1	0	MUC17	100466263	0.000000	0.05858	0.005000	0.12908	0.020000	0.10135	-4.472000	0.00228	0.772000	0.33382	0.064000	0.15345	GCT		0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		120	200	0	0	0	1	0	120	200				
HIST1H4A	8359	broad.mit.edu	37	6	26022184	26022184	+	Missense_Mutation	SNP	G	G	T			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr6:26022184G>T	ENST00000359907.3	+	1	278	c.278G>T	c.(277-279)cGc>cTc	p.R93L		NM_003538.3	NP_003529.1	P62805	H4_HUMAN	histone cluster 1, H4a	93					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			large_intestine(1)|skin(1)	2						GCGCTTAAGCGCCAGGGACGC	0.537																																						ENST00000359907.3																			0				large_intestine(1)|skin(1)	2						c.(277-279)cGc>cTc		histone cluster 1, H4a							92.0	80.0	85.0					6																	26022184		2203	4300	6503	SO:0001583	missense	8359				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26022184G>T	X60481	CCDS4571.1	6p22.1	2011-01-27	2006-10-11	2003-03-07	ENSG00000196176	ENSG00000278637		"""Histones / Replication-dependent"""	4781	protein-coding gene	gene with protein product		602822	"""H4 histone family, member A"", ""histone 1, H4a"""	H4FA		9119399, 12408966	Standard	NM_003538		Approved		uc003nfq.3	P62805	OTTHUMG00000014419	ENST00000359907.3:c.278G>T	6.37:g.26022184G>T	ENSP00000352980:p.Arg93Leu						p.R93L	NM_003538.3	NP_003529.1	P62805	H4_HUMAN			1	278	+			93					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000359907.3	37	c.278G>T	CCDS4571.1	.	.	.	.	.	.	.	.	.	.	g	21.7	4.185406	0.78677	.	.	ENSG00000196176	ENST00000359907	T	0.63255	-0.03	3.97	3.97	0.46021	.	.	.	.	.	T	0.63604	0.2525	.	.	.	0.43569	D	0.995891	.	.	.	.	.	.	T	0.64292	-0.6442	5	.	.	.	.	15.9333	0.79683	0.0:0.0:1.0:0.0	.	.	.	.	L	93	ENSP00000352980:R93L	.	R	+	2	0	HIST1H4A	26130163	1.000000	0.71417	1.000000	0.80357	0.266000	0.26442	7.661000	0.83786	2.134000	0.65973	0.655000	0.94253	CGC		0.537	HIST1H4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040081.1	NM_003538		5	71	1	0	0.217242	1	0.220027	5	71				
C3	718	broad.mit.edu	37	19	6707507	6707507	+	Missense_Mutation	SNP	C	C	T	rs534845907		TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr19:6707507C>T	ENST00000245907.6	-	16	2109	c.2017G>A	c.(2017-2019)Gtg>Atg	p.V673M		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	673					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	GTGAGCTGCACGGAACGGCGT	0.662													C|||	1	0.000199681	0.0	0.0	5008	,	,		14416	0.0		0.0	False		,,,				2504	0.001					ENST00000245907.6																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(2017-2019)Gtg>Atg		complement component 3							48.0	58.0	55.0					19																	6707507		2203	4298	6501	SO:0001583	missense	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6707507C>T	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.2017G>A	19.37:g.6707507C>T	ENSP00000245907:p.Val673Met						p.V673M	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	16	2109	-			673					A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.2017G>A	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.085512	0.36758	.	.	ENSG00000125730	ENST00000245907	T	0.36157	1.27	4.98	3.94	0.45596	.	0.517766	0.20182	N	0.097483	T	0.50480	0.1618	M	0.86178	2.8	0.22975	N	0.998485	P	0.52463	0.953	P	0.50708	0.648	T	0.49031	-0.8981	10	0.54805	T	0.06	.	9.3579	0.38177	0.0:0.8997:0.0:0.1003	.	673	P01024	CO3_HUMAN	M	673	ENSP00000245907:V673M	ENSP00000245907:V673M	V	-	1	0	C3	6658507	0.082000	0.21442	0.758000	0.31321	0.033000	0.12548	0.597000	0.24059	1.099000	0.41499	-0.192000	0.12808	GTG		0.662	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		5	64	0	0	0	1	0	5	64				
PVRL2	5819	broad.mit.edu	37	19	45381839	45381839	+	Intron	SNP	G	G	A			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr19:45381839G>A	ENST00000252483.5	+	6	1042				PVRL2_ENST00000252485.4_Missense_Mutation_p.D468N	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)						acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		GTCCCAGCTGGACGGCTCCCT	0.637																																						ENST00000252485.4																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13						c.(1402-1404)Gac>Aac		poliovirus receptor-related 2 (herpesvirus entry mediator B)							56.0	50.0	52.0					19																	45381839		2203	4300	6503	SO:0001627	intron_variant	5819				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr19:45381839G>A	X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.1043-3629G>A	19.37:g.45381839G>A						PVRL2_ENST00000252483.5_Intron	p.D468N	NM_002856.2	NP_002847.1	Q92692	PVRL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0143)	6	1753	+	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)	527					A8K5L5|O75455|Q6IBI6|Q96J29	Missense_Mutation	SNP	ENST00000252483.5	37	c.1402G>A	CCDS42576.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.797046	0.90453	.	.	ENSG00000130202	ENST00000252485	T	0.76968	-1.06	5.91	5.91	0.95273	.	.	.	.	.	D	0.86619	0.5976	L	0.58810	1.83	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86962	0.2092	9	0.87932	D	0	.	17.7902	0.88550	0.0:0.0:1.0:0.0	.	468	Q92692-2	.	N	468	ENSP00000252485:D468N	ENSP00000252485:D468N	D	+	1	0	PVRL2	50073679	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	6.056000	0.71111	2.813000	0.96785	0.655000	0.94253	GAC		0.637	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453231.1	NM_002856		3	34	0	0	0	1	0	3	34				
FAT4	79633	broad.mit.edu	37	4	126412664	126412664	+	Missense_Mutation	SNP	G	G	A	rs531333503		TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr4:126412664G>A	ENST00000394329.3	+	17	14700	c.14687G>A	c.(14686-14688)cGc>cAc	p.R4896H	FAT4_ENST00000335110.5_Missense_Mutation_p.R3137H	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4896					branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TACCACGGTCGCAGGGCCGAG	0.527													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17314	0.0		0.0	False		,,,				2504	0.0					ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(14686-14688)cGc>cAc		FAT atypical cadherin 4							57.0	56.0	56.0					4																	126412664		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126412664G>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.14687G>A	4.37:g.126412664G>A	ENSP00000377862:p.Arg4896His					FAT4_ENST00000335110.5_Missense_Mutation_p.R3137H	p.R4896H	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			17	14700	+			4896					A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.14687G>A	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	13.46	2.242959	0.39697	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.76578	-0.82;-1.03	5.19	5.19	0.71726	.	0.000000	0.34932	U	0.003578	T	0.71745	0.3376	L	0.41236	1.265	0.58432	D	0.999996	P;P;P	0.44195	0.828;0.736;0.828	B;B;B	0.40009	0.316;0.099;0.201	T	0.72571	-0.4253	10	0.35671	T	0.21	.	17.7328	0.88383	0.0:0.0:1.0:0.0	.	3137;4896;4895	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	H	4896;3137	ENSP00000377862:R4896H;ENSP00000335169:R3137H	ENSP00000335169:R3137H	R	+	2	0	FAT4	126632114	1.000000	0.71417	1.000000	0.80357	0.623000	0.37688	7.712000	0.84684	2.425000	0.82216	0.491000	0.48974	CGC		0.527	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		5	47	0	0	0	1	0	5	47				
RP11-782C8.2	0	broad.mit.edu	37	1	143210446	143210446	+	lincRNA	DEL	T	T	-	rs530198275|rs376698056	byFrequency	TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr1:143210446delT	ENST00000412204.2	-	0	624				RP11-782C8.1_ENST00000438000.1_lincRNA																							GTCCATATACTAAAAAGGTTA	0.284																																						ENST00000412204.2																			0																																																			0							g.chr1:143210446delT																													1.37:g.143210446delT						RP11-782C8.1_ENST00000438000.1_lincRNA								0	624	-									RNA	DEL	ENST00000412204.2	37																																																																																						0.284	RP11-782C8.2-004	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037567.2			7	35						7	35	---	---	---	---
CREB3L4	148327	broad.mit.edu	37	1	153945522	153945524	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr1:153945522_153945524delGAA	ENST00000368607.3	+	6	977_979	c.711_713delGAA	c.(709-714)cggaag>cgg	p.K239del	CREB3L4_ENST00000368600.3_In_Frame_Del_p.K219del|CREB3L4_ENST00000271889.4_In_Frame_Del_p.K239del|CREB3L4_ENST00000368601.1_3'UTR|CREB3L4_ENST00000468845.1_3'UTR|CREB3L4_ENST00000368603.1_In_Frame_Del_p.K239del|JTB_ENST00000471173.1_5'Flank|CREB3L4_ENST00000405694.3_In_Frame_Del_p.K92del	NM_001255978.1|NM_001255980.1|NM_130898.3	NP_001242907.1|NP_001242909.1|NP_570968.1	Q8TEY5	CR3L4_HUMAN	cAMP responsive element binding protein 3-like 4	239	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GTCGGCGGCGGAAGAAGGAGTAC	0.576																																						ENST00000368607.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13						c.(709-714)cgg>cg		cAMP responsive element binding protein 3-like 4																																				SO:0001651	inframe_deletion	148327				response to unfolded protein	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:153945522_153945524delGAA	AF394167	CCDS1056.1, CCDS58029.1	1q21.2	2013-01-10			ENSG00000143578	ENSG00000143578		"""basic leucine zipper proteins"""	18854	protein-coding gene	gene with protein product		607138					Standard	NM_130898		Approved	AIbZIP, CREB4, CREB3, hJAL, ATCE1	uc001fdr.3	Q8TEY5	OTTHUMG00000037159	ENST00000368607.3:c.711_713delGAA	1.37:g.153945525_153945527delGAA	ENSP00000357596:p.Lys239del					CREB3L4_ENST00000405694.3_In_Frame_Del_p.RK90del|CREB3L4_ENST00000468845.1_3'UTR|CREB3L4_ENST00000368600.3_In_Frame_Del_p.RK217del|CREB3L4_ENST00000368601.1_3'UTR|CREB3L4_ENST00000271889.4_In_Frame_Del_p.RK237del|CREB3L4_ENST00000368603.1_In_Frame_Del_p.RK237del	p.RK237del	NM_001255978.1|NM_001255980.1|NM_130898.3	NP_001242907.1|NP_001242909.1|NP_570968.1	Q8TEY5	CR3L4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		6	977_979	+	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		237					D3DV62|Q5T4L0|Q86YW6	In_Frame_Del	DEL	ENST00000368607.3	37	c.711_713delGAA	CCDS1056.1																																																																																				0.576	CREB3L4-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090291.1	NM_130898		10	71						10	71	---	---	---	---
XPR1	9213	broad.mit.edu	37	1	180833005	180833005	+	Missense_Mutation	SNP	C	C	A			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr1:180833005C>A	ENST00000367590.4	+	12	1861	c.1663C>A	c.(1663-1665)Caa>Aaa	p.Q555K	XPR1_ENST00000367589.3_Missense_Mutation_p.Q490K	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	555	EXS. {ECO:0000255|PROSITE- ProRule:PRU00712}.				G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						TGTATACCCCCAAAAAGTATG	0.408																																						ENST00000367590.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						c.(1663-1665)Caa>Aaa		xenotropic and polytropic retrovirus receptor 1							68.0	69.0	69.0					1																	180833005		2203	4300	6503	SO:0001583	missense	9213					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:180833005C>A	AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"""xenotropic and polytropic retrovirus receptor"""			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.1663C>A	1.37:g.180833005C>A	ENSP00000356562:p.Gln555Lys					XPR1_ENST00000367589.3_Missense_Mutation_p.Q490K	p.Q555K	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN			12	1861	+			555			EXS.		O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Missense_Mutation	SNP	ENST00000367590.4	37	c.1663C>A	CCDS1340.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.449522	0.63178	.	.	ENSG00000143324	ENST00000367590;ENST00000367589	T;T	0.39787	1.06;1.06	5.49	5.49	0.81192	EXS, C-terminal (2);	0.050624	0.85682	D	0.000000	T	0.32645	0.0836	N	0.25201	0.72	0.46044	D	0.998831	B;B	0.14438	0.01;0.004	B;B	0.15052	0.012;0.012	T	0.06499	-1.0823	10	0.22706	T	0.39	-9.5028	18.9709	0.92715	0.0:1.0:0.0:0.0	.	490;555	Q9UBH6-2;Q9UBH6	.;XPR1_HUMAN	K	555;490	ENSP00000356562:Q555K;ENSP00000356561:Q490K	ENSP00000356561:Q490K	Q	+	1	0	XPR1	179099628	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	7.711000	0.84669	2.577000	0.86979	0.655000	0.94253	CAA		0.408	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2	NM_004736		4	82	1	0	0.00024832	1	0.00026873	4	82				
SENP7	57337	broad.mit.edu	37	3	101086791	101086800	+	Frame_Shift_Del	DEL	TTTAACATCC	TTTAACATCC	-			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr3:101086791_101086800delTTTAACATCC	ENST00000394095.2	-	8	905_914	c.852_861delGGATGTTAAA	c.(850-861)aaggatgttaaafs	p.KDVK284fs	SENP7_ENST00000394091.1_Frame_Shift_Del_p.KDVK120fs|SENP7_ENST00000348610.3_Frame_Shift_Del_p.KDVK251fs|SENP7_ENST00000394094.2_Frame_Shift_Del_p.KDVK219fs|SENP7_ENST00000358203.3_Frame_Shift_Del_p.KDVK120fs|SENP7_ENST00000314261.7_Frame_Shift_Del_p.KDVK218fs	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	284						intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AATCAGAATATTTAACATCCTTGTTTCTGC	0.333																																						ENST00000394095.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(850-861)aafs		SUMO1/sentrin specific peptidase 7																																				SO:0001589	frameshift_variant	57337				proteolysis	nucleus	cysteine-type peptidase activity	g.chr3:101086791_101086800delTTTAACATCC		CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"""SUMO1/sentrin specific protease 7"""			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.852_861delGGATGTTAAA	3.37:g.101086791_101086800delTTTAACATCC	ENSP00000377655:p.Lys284fs					SENP7_ENST00000358203.3_Frame_Shift_Del_p.KDVK120fs|SENP7_ENST00000314261.7_Frame_Shift_Del_p.KDVK218fs|SENP7_ENST00000394091.1_Frame_Shift_Del_p.KDVK120fs|SENP7_ENST00000394094.2_Frame_Shift_Del_p.KDVK219fs|SENP7_ENST00000348610.3_Frame_Shift_Del_p.KDVK251fs	p.KDVK284fs	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN			8	905_914	-			284					A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Frame_Shift_Del	DEL	ENST00000394095.2	37	c.852_861delGGATGTTAAA	CCDS2941.2																																																																																				0.333	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	NM_020654		10	100						10	100	---	---	---	---
RP11-254I22.1	0	broad.mit.edu	37	5	95414786	95414787	+	lincRNA	INS	-	-	TAAAA	rs34328926|rs80243332|rs60523167|rs5869706	byFrequency	TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr5:95414786_95414787insTAAAA	ENST00000507997.1	+	0	87				MIR583_ENST00000384846.1_RNA|CTD-2337A12.1_ENST00000511775.1_RNA|CTD-2337A12.1_ENST00000502645.2_RNA																							acccatgcacttaaagttaaaa	0.361														2975	0.59405	0.7156	0.4813	5008	,	,		22499	0.495		0.6362	False		,,,				2504	0.5685					ENST00000507997.1																			0																	2353,1165		895,563,301						0.2	0.1		dbSNP_114	36	3841,2837		1367,1107,865	no	intergenic				2262,1670,1166	A1A1,A1R,RR		42.4828,33.1154,39.2507				6194,4002						0							g.chr5:95414786_95414787insTAAAA																													5.37:g.95414786_95414787insTAAAA						CTD-2337A12.1_ENST00000502645.2_RNA|CTD-2337A12.1_ENST00000511775.1_RNA								0	87	+									RNA	INS	ENST00000507997.1	37																																																																																						0.361	RP11-254I22.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000370578.1			4	2						4	2	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102299886	102299887	+	RNA	INS	-	-	G	rs199996275	byFrequency	TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr15:102299886_102299887insG	ENST00000561463.1	+	0	7932_7933									DNM1 pseudogene 47																		AACCTGTACTCGCGTCGGAACC	0.589													|||unknown(NO_COVERAGE)	758	0.151358	0.2511	0.1167	5008	,	,		74102	0.0595		0.163	False		,,,				2504	0.1237					ENST00000561463.1																			0																																																			0							g.chr15:102299886_102299887insG	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102299887_102299887dupG														0	7932_7933	+									RNA	INS	ENST00000561463.1	37																																																																																						0.589	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	3						3	3	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7579408	7579430	+	Frame_Shift_Del	DEL	CAGGGGCCAGGAGGGGGCTGGTG	CAGGGGCCAGGAGGGGGCTGGTG	-	rs587783062		TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr17:7579408_7579430delCAGGGGCCAGGAGGGGGCTGGTG	ENST00000269305.4	-	4	446_468	c.257_279delCACCAGCCCCCTCCTGGCCCCTG	c.(256-279)gcaccagccccctcctggcccctgfs	p.APAPSWPL86fs	TP53_ENST00000420246.2_Frame_Shift_Del_p.APAPSWPL86fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Frame_Shift_Del_p.APAPSWPL86fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.APAPSWPL86fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.APAPSWPL86fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.APAPSWPL86fs	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	86	Interaction with WWOX.		A -> V (in a sporadic cancer; somatic mutation).		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.W91*(20)|p.0?(8)|p.S90fs*59(6)|p.L93fs*30(5)|p.S90fs*33(4)|p.A88fs*32(3)|p.A76_S90del15(3)|p.P87Q(3)|p.G59fs*23(3)|p.P89S(3)|p.A88fs*35(2)|p.P85fs*59(1)|p.P85fs*58(1)|p.W91fs*57(1)|p.A86V(1)|p.W91fs*13(1)|p.A88fs*52(1)|p.V73fs*9(1)|p.D48fs*55(1)|p.L93M(1)|p.A79_A88del10(1)|p.P87fs*54(1)|p.P87P(1)|p.A86fs*59(1)|p.P89L(1)|p.P92fs*57(1)|p.A86fs*34(1)|p.S94fs*54(1)|p.S33fs*23(1)|p.A86fs*33(1)|p.A86fs*32(1)|p.P13fs*18(1)|p.P89fs*60(1)|p.S90F(1)|p.P92A(1)|p.A83fs*35(1)|p.P92L(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)	CAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGC	0.619		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		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"""		86	Deletion - Frameshift(33)|Substitution - Nonsense(20)|Substitution - Missense(12)|Insertion - Frameshift(8)|Whole gene deletion(8)|Deletion - In frame(4)|Substitution - coding silent(1)	p.W91*(20)|p.0?(8)|p.S90fs*59(6)|p.L93fs*30(5)|p.S90fs*33(4)|p.A88fs*32(3)|p.A76_S90del15(3)|p.P87Q(3)|p.G59fs*23(3)|p.P89S(3)|p.A88fs*35(2)|p.P85fs*59(1)|p.P85fs*58(1)|p.W91fs*57(1)|p.A86V(1)|p.W91fs*13(1)|p.A88fs*52(1)|p.V73fs*9(1)|p.D48fs*55(1)|p.L93M(1)|p.A79_A88del10(1)|p.P87fs*54(1)|p.P87P(1)|p.A86fs*59(1)|p.P89L(1)|p.P92fs*57(1)|p.A86fs*34(1)|p.S94fs*54(1)|p.S33fs*23(1)|p.A86fs*33(1)|p.A86fs*32(1)|p.P13fs*18(1)|p.P89fs*60(1)|p.S90F(1)|p.P92A(1)|p.A83fs*35(1)|p.P92L(1)	lung(17)|upper_aerodigestive_tract(12)|urinary_tract(10)|breast(9)|liver(7)|haematopoietic_and_lymphoid_tissue(6)|central_nervous_system(4)|ovary(4)|prostate(4)|bone(4)|skin(3)|large_intestine(2)|stomach(1)|soft_tissue(1)|endometrium(1)|oesophagus(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	CM065495	TP53	M		c.(256-279)gfs	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001589	frameshift_variant	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.chr17:7579408_7579430delCAGGGGCCAGGAGGGGGCTGGTG	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.257_279delCACCAGCCCCCTCCTGGCCCCTG	17.37:g.7579408_7579430delCAGGGGCCAGGAGGGGGCTGGTG	ENSP00000269305:p.Ala86fs	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_ENST00000445888.2_Frame_Shift_Del_p.APAPSWPL86fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.APAPSWPL86fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.APAPSWPL86fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.APAPSWPL86fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.APAPSWPL86fs	p.APAPSWPL86fs	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)	4	389_411	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	86		A -> V (in a sporadic cancer; somatic mutation).	Interaction with WWOX.		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	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.257_279delCACCAGCCCCCTCCTGGCCCCTG	CCDS11118.1																																																																																				0.619	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		13	45						13	45	---	---	---	---
