#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
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	lincRNA	SNP	A	A	G	rs374719458		TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373																																						ENST00000548109.1																			0																																																			0							g.chr14:19857036A>G																													14.37:g.19857036A>G														0	72	+									RNA	SNP	ENST00000548109.1	37																																																																																						0.373	RP11-146E13.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000409408.1			5	167	0	0	0	1	0	5	167				
ATRX	546	broad.mit.edu	37	X	76938562	76938562	+	Nonsense_Mutation	SNP	G	G	C			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chrX:76938562G>C	ENST00000373344.5	-	9	2400	c.2186C>G	c.(2185-2187)tCa>tGa	p.S729*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.S691*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	729					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						ATCAGAATCTGAATTTTGATC	0.348			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(2185-2187)tCa>tGa		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						146.0	143.0	144.0					X																	76938562		2203	4296	6499	SO:0001587	stop_gained	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76938562G>C	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.2186C>G	X.37:g.76938562G>C	ENSP00000362441:p.Ser729*					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.S691*	p.S729*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	2400	-			729					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	c.2186C>G	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	G	40	8.444075	0.98813	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	.	.	.	5.74	5.74	0.90152	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-6.3531	18.8837	0.92367	0.0:0.0:1.0:0.0	.	.	.	.	X	729;691;656	.	ENSP00000362441:S729X	S	-	2	0	ATRX	76825218	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.778000	0.75043	2.406000	0.81754	0.513000	0.50165	TCA		0.348	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		86	40	0	0	0	1	0	86	40				
CSMD1	64478	broad.mit.edu	37	8	2910030	2910030	+	Silent	SNP	T	T	C			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr8:2910030T>C	ENST00000520002.1	-	51	8172	c.7617A>G	c.(7615-7617)caA>caG	p.Q2539Q	CSMD1_ENST00000602723.1_Silent_p.Q2539Q|CSMD1_ENST00000400186.3_Silent_p.Q2539Q|CSMD1_ENST00000542608.1_Silent_p.Q2538Q|CSMD1_ENST00000602557.1_Silent_p.Q2539Q|CSMD1_ENST00000537824.1_Silent_p.Q2538Q			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2539	Sushi 15. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACCCATCTTCTTGACACACGG	0.502																																						ENST00000520002.1																			0				breast(20)|large_intestine(5)	25						c.(7615-7617)caA>caG		CUB and Sushi multiple domains 1							53.0	53.0	53.0					8																	2910030		1998	4172	6170	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:2910030T>C			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.7617A>G	8.37:g.2910030T>C						CSMD1_ENST00000400186.3_Silent_p.Q2539Q|CSMD1_ENST00000602723.1_Silent_p.Q2539Q|CSMD1_ENST00000602557.1_Silent_p.Q2539Q|CSMD1_ENST00000542608.1_Silent_p.Q2538Q|CSMD1_ENST00000537824.1_Silent_p.Q2538Q	p.Q2539Q			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	51	8172	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2539			Sushi 15.		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.7617A>G		.	.	.	.	.	.	.	.	.	.	T	0.661	-0.805531	0.02819	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.32	-4.51	0.03483	.	.	.	.	.	T	0.62684	0.2448	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62072	-0.6931	4	.	.	.	.	14.1632	0.65459	0.0:0.19:0.0:0.81	.	.	.	.	G	1956	.	.	R	-	1	2	CSMD1	2897437	1.000000	0.71417	0.003000	0.11579	0.084000	0.17831	0.518000	0.22847	-1.015000	0.03375	-0.242000	0.12053	AGA		0.502	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		6	7	0	0	0	1	0	6	7				
LRP1B	53353	broad.mit.edu	37	2	141083421	141083421	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr2:141083421G>A	ENST00000389484.3	-	80	13221	c.12250C>T	c.(12250-12252)Cgc>Tgc	p.R4084C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4084					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAATATATGCGTTCACTAAAA	0.378										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(12250-12252)Cgc>Tgc		low density lipoprotein receptor-related protein 1B							114.0	104.0	107.0					2																	141083421		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141083421G>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.12250C>T	2.37:g.141083421G>A	ENSP00000374135:p.Arg4084Cys	TSP Lung(27;0.18)					p.R4084C	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	80	13221	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	4084					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.12250C>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	31	5.059144	0.93846	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.92199	-2.99	5.13	5.13	0.70059	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.079381	0.52532	U	0.000076	D	0.96969	0.9010	M	0.91196	3.185	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.97864	1.0282	10	0.87932	D	0	.	18.583	0.91178	0.0:0.0:1.0:0.0	.	4084	Q9NZR2	LRP1B_HUMAN	C	4084;4022	ENSP00000374135:R4084C	ENSP00000374135:R4084C	R	-	1	0	LRP1B	140799891	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.423000	0.97461	2.382000	0.81193	0.591000	0.81541	CGC		0.378	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		4	69	0	0	0	1	0	4	69				
SSBP4	170463	broad.mit.edu	37	19	18541701	18541701	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr19:18541701C>A	ENST00000270061.7	+	5	624	c.330C>A	c.(328-330)gaC>gaA	p.D110E	SSBP4_ENST00000348495.6_Missense_Mutation_p.D110E|SSBP4_ENST00000599699.2_5'Flank|SSBP4_ENST00000598159.2_3'UTR	NM_032627.4	NP_116016.1	Q9BWG4	SSBP4_HUMAN	single stranded DNA binding protein 4	110						nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)			endometrium(2)|kidney(1)|skin(1)	4						CCCCAGGTGACACAATGGCCG	0.647																																						ENST00000270061.6																			0				endometrium(2)|kidney(1)|skin(1)	4						c.(328-330)gaC>gaA		single stranded DNA binding protein 4							33.0	35.0	34.0					19																	18541701		2203	4299	6502	SO:0001583	missense	170463					nucleus	single-stranded DNA binding	g.chr19:18541701C>A		CCDS12378.1, CCDS32960.1	19p13.1	2008-02-05				ENSG00000130511			15676	protein-coding gene	gene with protein product		607391				12079286	Standard	NM_032627		Approved		uc002niy.3	Q9BWG4		ENST00000270061.7:c.330C>A	19.37:g.18541701C>A	ENSP00000270061:p.Asp110Glu					SSBP4_ENST00000348495.5_Missense_Mutation_p.D110E	p.D110E	NM_032627.4	NP_116016.1	Q9BWG4	SSBP4_HUMAN			5	550	+			110					Q9BWW5	Missense_Mutation	SNP	ENST00000270061.7	37	c.330C>A	CCDS12378.1	.	.	.	.	.	.	.	.	.	.	C	11.28	1.591344	0.28357	.	.	ENSG00000130511	ENST00000270061;ENST00000348495	.	.	.	2.8	-3.89	0.04193	.	0.000000	0.64402	U	0.000002	T	0.42017	0.1184	L	0.41356	1.27	0.44500	D	0.997441	B;B	0.27316	0.035;0.175	B;B	0.33690	0.168;0.075	T	0.04537	-1.0944	9	0.30078	T	0.28	-6.5405	7.7088	0.28665	0.0:0.3617:0.0:0.6383	.	110;110	Q9BWW5;Q9BWG4	.;SSBP4_HUMAN	E	110	.	ENSP00000270061:D110E	D	+	3	2	SSBP4	18402701	0.000000	0.05858	0.053000	0.19242	0.024000	0.10985	-3.035000	0.00635	-0.979000	0.03529	-0.224000	0.12420	GAC		0.647	SSBP4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466348.3	NM_032627		3	30	1	0	2.56e-06	1	2.79273e-06	3	30				
APOBEC1	339	broad.mit.edu	37	12	7805222	7805222	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr12:7805222G>A	ENST00000229304.4	-	3	274	c.254C>T	c.(253-255)aCc>aTc	p.T85I		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	85					cellular response to insulin stimulus (GO:0032869)|cytidine deamination (GO:0009972)|cytidine to uridine editing (GO:0016554)|defense response to virus (GO:0051607)|DNA demethylation (GO:0080111)|gene expression (GO:0010467)|lipid metabolic process (GO:0006629)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein transport (GO:0042953)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to osmotic stress (GO:0006970)|response to zinc ion (GO:0010043)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	AU-rich element binding (GO:0017091)|cytidine deaminase activity (GO:0004126)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						CAAGAACCAGGTGATGGAGCA	0.473																																					Pancreas(135;929 1826 4531 10527 41012)	ENST00000229304.4																			0				kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						c.(253-255)aCc>aTc		apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1							49.0	49.0	49.0					12																	7805222		2203	4300	6503	SO:0001583	missense	339				cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding	g.chr12:7805222G>A	U72891	CCDS8579.1	12p13.1	2007-02-01			ENSG00000111701	ENSG00000111701		"""Apolipoprotein B mRNA editing enzymes"""	604	protein-coding gene	gene with protein product		600130					Standard	XM_005253355		Approved	BEDP, CDAR1, APOBEC-1, HEPR	uc001qtb.3	P41238	OTTHUMG00000141288	ENST00000229304.4:c.254C>T	12.37:g.7805222G>A	ENSP00000229304:p.Thr85Ile						p.T85I	NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN			3	274	-			85					Q9UE64|Q9UM71	Missense_Mutation	SNP	ENST00000229304.4	37	c.254C>T	CCDS8579.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.651730	0.47362	.	.	ENSG00000111701	ENST00000229304	T	0.69175	-0.38	3.95	0.629	0.17687	APOBEC-like, N-terminal (1);APOBEC/CMP deaminase, zinc-binding (1);	0.579325	0.16630	N	0.206097	T	0.65533	0.2700	M	0.79693	2.465	0.27657	N	0.947212	P	0.43578	0.811	B	0.41135	0.348	T	0.61431	-0.7064	10	0.87932	D	0	-2.2202	8.5559	0.33480	0.1365:0.0:0.8635:0.0	.	85	P41238	ABEC1_HUMAN	I	85	ENSP00000229304:T85I	ENSP00000229304:T85I	T	-	2	0	APOBEC1	7696489	0.978000	0.34361	0.997000	0.53966	0.978000	0.69477	-0.085000	0.11250	0.010000	0.14839	0.462000	0.41574	ACC		0.473	APOBEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280523.1	NM_001644		9	59	0	0	0	1	0	9	59				
GNPTAB	79158	broad.mit.edu	37	12	102158787	102158787	+	Silent	SNP	C	C	T			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr12:102158787C>T	ENST00000299314.7	-	13	2170	c.1908G>A	c.(1906-1908)agG>agA	p.R636R	RNU6-101P_ENST00000410323.1_RNA	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	636					carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						TTGGTCCCTCCCTTGTGTCCA	0.403																																						ENST00000299314.7																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						c.(1906-1908)agG>agA		N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits							218.0	206.0	210.0					12																	102158787		2203	4300	6503	SO:0001819	synonymous_variant	79158				cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity	g.chr12:102158787C>T	AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"""EF-hand domain containing"""	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.1908G>A	12.37:g.102158787C>T							p.R636R	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN			13	2170	-			636					A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Silent	SNP	ENST00000299314.7	37	c.1908G>A	CCDS9088.1																																																																																				0.403	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409182.1			37	64	0	0	0	1	0	37	64				
RANBP2	5903	broad.mit.edu	37	2	109357066	109357066	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr2:109357066C>A	ENST00000283195.6	+	7	1030	c.904C>A	c.(904-906)Cag>Aag	p.Q302K		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	302					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GAAGATGGGTCAGCATAGTAG	0.413																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(904-906)Cag>Aag		RAN binding protein 2							248.0	254.0	252.0					2																	109357066		2050	3902	5952	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109357066C>A	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.904C>A	2.37:g.109357066C>A	ENSP00000283195:p.Gln302Lys						p.Q302K	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			7	1030	+			302					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.904C>A	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.852863	0.51270	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.29917	1.55	4.79	4.79	0.61399	.	.	.	.	.	T	0.46464	0.1394	M	0.64997	1.995	0.31840	N	0.623625	D	0.56521	0.976	P	0.52343	0.696	T	0.56768	-0.7924	9	0.59425	D	0.04	-9.3902	18.2105	0.89868	0.0:1.0:0.0:0.0	.	302	P49792	RBP2_HUMAN	K	302	ENSP00000283195:Q302K	ENSP00000283195:Q302K	Q	+	1	0	RANBP2	108723498	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.412000	0.52679	2.395000	0.81488	0.555000	0.69702	CAG		0.413	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		6	358	1	0	0.248553	1	0.253841	6	358				
LOC101927648	101927648	broad.mit.edu	37	1	143403563	143403563	+	lincRNA	SNP	C	C	A	rs376564211		TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr1:143403563C>A	ENST00000423249.1	-	0	59																											TTTCTTTGGCCACTTTGGCTG	0.453																																						ENST00000423249.1																			0																																																			0							g.chr1:143403563C>A																													1.37:g.143403563C>A														0	59	-									RNA	SNP	ENST00000423249.1	37																																																																																						0.453	RP11-435B5.4-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	lincRNA	OTTHUMT00000037552.1			3	24	1	0	1.23904e-05	1	1.32164e-05	3	24				
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	byFrequency	TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	41								p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A41T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(121-123)Gcc>Acc																																						SO:0001583	missense	0							g.chr20:29625877G>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.121G>A	20.37:g.29625877G>A	ENSP00000278882:p.Ala41Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T	p.A41T							5	501	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.121G>A		.	.	.	.	.	.	.	.	.	.	g	8.740	0.918766	0.17982	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.62498	0.02	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	.	.	.	0.52099	D	0.999942	B	0.24186	0.099	B	0.27715	0.082	T	0.43956	-0.9359	9	0.33940	T	0.23	.	9.3557	0.38164	0.0:0.0:1.0:0.0	rs7266938;rs7266938	46	F5H5R5	.	T	41;46;41	ENSP00000408863:A46T	ENSP00000278882:A41T	A	+	1	0	FRG1B	28239538	1.000000	0.71417	0.993000	0.49108	0.033000	0.12548	5.232000	0.65332	1.250000	0.43966	0.184000	0.17185	GCC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		9	160	0	0	0	1	0	9	160				
CFAP43	80217	broad.mit.edu	37	10	105922110	105922110	+	Missense_Mutation	SNP	C	C	T	rs143442935	byFrequency	TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr10:105922110C>T	ENST00000357060.3	-	25	3413	c.3298G>A	c.(3298-3300)Gtg>Atg	p.V1100M	WDR96_ENST00000428666.1_Missense_Mutation_p.V1101M	NM_025145.5	NP_079421.5														NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TCATGATTCACGATCAATTCT	0.403													C|||	3	0.000599042	0.0015	0.0014	5008	,	,		22309	0.0		0.0	False		,,,				2504	0.0					ENST00000357060.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(3298-3300)Gtg>Atg		WD repeat domain 96		C	MET/VAL	6,4400	11.4+/-27.6	0,6,2197	168.0	138.0	148.0		3298	-8.9	0.0	10	dbSNP_134	148	0,8600		0,0,4300	yes	missense	WDR96	NM_025145.5	21	0,6,6497	TT,TC,CC		0.0,0.1362,0.0461	benign	1100/1666	105922110	6,13000	2203	4300	6503	SO:0001583	missense	80217							g.chr10:105922110C>T																												ENST00000357060.3:c.3298G>A	10.37:g.105922110C>T	ENSP00000349568:p.Val1100Met					WDR96_ENST00000428666.1_Missense_Mutation_p.V1101M	p.V1100M	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN			25	3413	-			1100						Missense_Mutation	SNP	ENST00000357060.3	37	c.3298G>A	CCDS31281.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	8.994	0.978424	0.18812	0.001362	0.0	ENSG00000197748	ENST00000357060;ENST00000428666	T;T	0.14144	2.54;2.53	5.3	-8.87	0.00792	.	2.087570	0.02058	N	0.050545	T	0.09202	0.0227	L	0.34521	1.04	0.09310	N	1	B;B	0.14012	0.004;0.009	B;B	0.14023	0.01;0.008	T	0.18116	-1.0347	10	0.46703	T	0.11	.	5.2757	0.15649	0.3068:0.2206:0.0:0.4726	.	1101;1100	G5E9L1;Q8NDM7	.;WDR96_HUMAN	M	1100;1101	ENSP00000349568:V1100M;ENSP00000400289:V1101M	ENSP00000349568:V1100M	V	-	1	0	WDR96	105912100	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.136000	0.01305	-2.291000	0.00666	-1.754000	0.00674	GTG		0.403	WDR96-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				11	195	0	0	0	1	0	11	195				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			40	60	0	0	0	1	0	40	60				
TLR4	7099	broad.mit.edu	37	9	120475584	120475584	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr9:120475584A>G	ENST00000355622.6	+	3	1279	c.1178A>G	c.(1177-1179)cAa>cGa	p.Q393R	TLR4_ENST00000394487.4_Missense_Mutation_p.Q353R|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	393					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|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 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)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	TGCTGTTCTCAAAGTGATTTT	0.388																																						ENST00000355622.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						c.(1177-1179)cAa>cGa		toll-like receptor 4							53.0	55.0	54.0					9																	120475584		2203	4300	6503	SO:0001583	missense	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120475584A>G	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.1178A>G	9.37:g.120475584A>G	ENSP00000363089:p.Gln393Arg					TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.Q353R	p.Q393R	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN			3	1279	+			393					A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	ENST00000355622.6	37	c.1178A>G	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	A	0.190	-1.054108	0.01965	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.00940	5.52;5.52	5.7	1.92	0.25849	.	3.116660	0.00589	N	0.000340	T	0.00637	0.0021	N	0.03000	-0.44	0.09310	N	1	B	0.11235	0.004	B	0.14023	0.01	T	0.46119	-0.9214	10	0.25106	T	0.35	.	2.5605	0.04771	0.4688:0.2467:0.0675:0.217	.	393	O00206	TLR4_HUMAN	R	353;393	ENSP00000377997:Q353R;ENSP00000363089:Q393R	ENSP00000363089:Q393R	Q	+	2	0	TLR4	119515405	0.000000	0.05858	0.000000	0.03702	0.130000	0.20726	-0.937000	0.03942	0.070000	0.16634	0.528000	0.53228	CAA		0.388	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		17	132	0	0	0	1	0	17	132				
NIPAL4	348938	broad.mit.edu	37	5	156899689	156899689	+	Silent	SNP	C	C	A			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr5:156899689C>A	ENST00000311946.7	+	6	1238	c.1122C>A	c.(1120-1122)atC>atA	p.I374I	NIPAL4_ENST00000435489.2_Silent_p.I355I|ADAM19_ENST00000430702.2_Intron	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	374						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						CGTCCATCATCCTCTTCAAGG	0.512											OREG0016979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000311946.7																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						c.(1120-1122)atC>atA		NIPA-like domain containing 4							121.0	115.0	117.0					5																	156899689		2136	4235	6371	SO:0001819	synonymous_variant	348938					integral to membrane	receptor activity	g.chr5:156899689C>A	AK026158	CCDS47328.1, CCDS54944.1	5q33.3	2009-03-24	2009-03-24		ENSG00000172548	ENSG00000172548			28018	protein-coding gene	gene with protein product	"""ichthyin"""	609383	"""NIPA-like 4"""			8619474, 9110174, 15317751	Standard	NM_001099287		Approved	ICHYN	uc003lwx.4	Q0D2K0	OTTHUMG00000163497	ENST00000311946.7:c.1122C>A	5.37:g.156899689C>A			OREG0016979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1782	NIPAL4_ENST00000435489.2_Silent_p.I355I|ADAM19_ENST00000430702.2_Intron	p.I374I	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN			6	1238	+			374					A8S6F1|A8S6F5|A8S6F8|B4DLF3|Q0D2J8|Q0D2J9	Silent	SNP	ENST00000311946.7	37	c.1122C>A	CCDS47328.1																																																																																				0.512	NIPAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373789.1	NM_001099287		46	49	1	0	1.7489e-18	1	1.99875e-18	46	49				
LRRC37A6P	387646	broad.mit.edu	37	10	27537142	27537142	+	lincRNA	SNP	A	A	G			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr10:27537142A>G	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							CTCCGGCTCAATAGTCAGCTC	0.483																																						ENST00000574842.1																			0																																																			0							g.chr10:27537142A>G																													10.37:g.27537142A>G						LRRC37A6P_ENST00000284414.4_RNA								0	255	+									RNA	SNP	ENST00000574842.1	37																																																																																						0.483	RP11-85G18.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000436904.1			75	123	0	0	0	1	0	75	123				
AHNAK	79026	broad.mit.edu	37	11	62290002	62290002	+	Missense_Mutation	SNP	C	C	T	rs201064254		TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr11:62290002C>T	ENST00000378024.4	-	5	12161	c.11887G>A	c.(11887-11889)Gtc>Atc	p.V3963I	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3963					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GGTCCTGAGACGTCAAGGTCA	0.483																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(11887-11889)Gtc>Atc		AHNAK nucleoprotein							221.0	231.0	227.0					11																	62290002		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62290002C>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.11887G>A	11.37:g.62290002C>T	ENSP00000367263:p.Val3963Ile					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.V3963I	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	12161	-		Melanoma(852;0.155)	3963					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.11887G>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	-	0.549	-0.850420	0.02651	.	.	ENSG00000124942	ENST00000378024	T	0.00655	5.95	4.9	2.72	0.32119	.	0.572634	0.13062	N	0.416822	T	0.00637	0.0021	N	0.17594	0.5	0.19775	N	0.999958	B	0.16396	0.017	B	0.09377	0.004	T	0.44205	-0.9343	10	0.14656	T	0.56	-9.495	10.654	0.45665	0.0:0.7846:0.0:0.2154	.	3963	Q09666	AHNK_HUMAN	I	3963	ENSP00000367263:V3963I	ENSP00000367263:V3963I	V	-	1	0	AHNAK	62046578	0.000000	0.05858	0.997000	0.53966	0.174000	0.22865	-5.664000	0.00106	1.043000	0.40175	0.498000	0.49722	GTC		0.483	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		24	476	0	0	0	1	0	24	476				
NIPAL4	348938	broad.mit.edu	37	5	156899850	156899850	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr5:156899850C>T	ENST00000311946.7	+	6	1399	c.1283C>T	c.(1282-1284)cCc>cTc	p.P428L	NIPAL4_ENST00000435489.2_Missense_Mutation_p.P409L|ADAM19_ENST00000430702.2_Intron	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	428						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						CCCCCTTCTCCCGCCCCGGAA	0.517																																						ENST00000311946.7																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						c.(1282-1284)cCc>cTc		NIPA-like domain containing 4							41.0	40.0	41.0					5																	156899850		1933	4142	6075	SO:0001583	missense	348938					integral to membrane	receptor activity	g.chr5:156899850C>T	AK026158	CCDS47328.1, CCDS54944.1	5q33.3	2009-03-24	2009-03-24		ENSG00000172548	ENSG00000172548			28018	protein-coding gene	gene with protein product	"""ichthyin"""	609383	"""NIPA-like 4"""			8619474, 9110174, 15317751	Standard	NM_001099287		Approved	ICHYN	uc003lwx.4	Q0D2K0	OTTHUMG00000163497	ENST00000311946.7:c.1283C>T	5.37:g.156899850C>T	ENSP00000311687:p.Pro428Leu					NIPAL4_ENST00000435489.2_Missense_Mutation_p.P409L|ADAM19_ENST00000430702.2_Intron	p.P428L	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN			6	1399	+			428					A8S6F1|A8S6F5|A8S6F8|B4DLF3|Q0D2J8|Q0D2J9	Missense_Mutation	SNP	ENST00000311946.7	37	c.1283C>T	CCDS47328.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.641147	0.47153	.	.	ENSG00000172548	ENST00000435489;ENST00000311946	D;D	0.90955	-2.67;-2.76	5.93	5.93	0.95920	.	0.151669	0.64402	D	0.000012	D	0.90459	0.7012	N	0.20986	0.625	0.54753	D	0.999988	D;D	0.69078	0.996;0.997	P;P	0.62184	0.899;0.879	D	0.87356	0.2341	10	0.17832	T	0.49	-5.4126	17.8376	0.88704	0.0:1.0:0.0:0.0	.	409;428	Q0D2K0-2;Q0D2K0	.;NIPA4_HUMAN	L	409;428	ENSP00000406456:P409L;ENSP00000311687:P428L	ENSP00000311687:P428L	P	+	2	0	NIPAL4	156832428	0.831000	0.29352	0.068000	0.19968	0.002000	0.02628	5.908000	0.69916	2.815000	0.96918	0.561000	0.74099	CCC		0.517	NIPAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373789.1	NM_001099287		18	29	0	0	0	1	0	18	29				
VPS13A	23230	broad.mit.edu	37	9	79820286	79820286	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr9:79820286T>C	ENST00000360280.3	+	4	505	c.245T>C	c.(244-246)gTa>gCa	p.V82A	VPS13A_ENST00000376636.3_Missense_Mutation_p.V82A|VPS13A_ENST00000376634.4_Missense_Mutation_p.V82A|VPS13A_ENST00000357409.5_Missense_Mutation_p.V82A	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	82					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GTTGAAGCCGTATTGGAAGAA	0.229																																						ENST00000360280.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(244-246)gTa>gCa		vacuolar protein sorting 13 homolog A (S. cerevisiae)							41.0	47.0	45.0					9																	79820286		2197	4281	6478	SO:0001583	missense	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79820286T>C	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.245T>C	9.37:g.79820286T>C	ENSP00000353422:p.Val82Ala					VPS13A_ENST00000376634.4_Missense_Mutation_p.V82A|VPS13A_ENST00000357409.5_Missense_Mutation_p.V82A|VPS13A_ENST00000376636.3_Missense_Mutation_p.V82A	p.V82A	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN			4	505	+			82					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.245T>C	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	T	15.83	2.949063	0.53186	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59	5.62	5.62	0.85841	.	0.285780	0.34411	N	0.003995	T	0.80576	0.4649	L	0.47716	1.5	0.80722	D	1	P;P;P;P	0.48294	0.481;0.908;0.787;0.787	B;P;B;B	0.46510	0.164;0.519;0.311;0.311	T	0.77273	-0.2649	10	0.12430	T	0.62	.	15.474	0.75461	0.0:0.0:0.0:1.0	.	82;82;82;82	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	A	82	ENSP00000365821:V82A;ENSP00000365823:V82A;ENSP00000353422:V82A;ENSP00000349985:V82A	ENSP00000349985:V82A	V	+	2	0	VPS13A	79010106	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	3.846000	0.55888	2.125000	0.65367	0.477000	0.44152	GTA		0.229	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		9	129	0	0	0	1	0	9	129				
RP11-156P1.3	0	broad.mit.edu	37	17	45128812	45128812	+	RNA	SNP	C	C	T			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr17:45128812C>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AGTCCTGTTTCTGTGTGGATT	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128812C>T																													17.37:g.45128812C>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			3	70	0	0	0	1	0	3	70				
CYP2D6	1565	broad.mit.edu	37	22	42523567	42523567	+	Missense_Mutation	SNP	T	T	C	rs61736517	byFrequency	TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr22:42523567T>C	ENST00000360608.5	-	7	1169	c.1055A>G	c.(1054-1056)cAc>cGc	p.H352R	NDUFA6-AS1_ENST00000536447.2_RNA|NDUFA6-AS1_ENST00000416037.2_RNA|NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6-AS1_ENST00000417327.1_RNA|NDUFA6-AS1_ENST00000451451.1_RNA|NDUFA6-AS1_ENST00000595777.1_RNA|NDUFA6-AS1_ENST00000434834.1_RNA|NDUFA6-AS1_ENST00000610250.1_RNA|CYP2D6_ENST00000389970.3_Missense_Mutation_p.H352R|CYP2D6_ENST00000359033.4_Missense_Mutation_p.H301R|NDUFA6-AS1_ENST00000600968.1_RNA	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	352					alkaloid catabolic process (GO:0009822)|alkaloid metabolic process (GO:0009820)|coumarin metabolic process (GO:0009804)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|isoquinoline alkaloid metabolic process (GO:0033076)|monoterpenoid metabolic process (GO:0016098)|negative regulation of binding (GO:0051100)|negative regulation of cellular organofluorine metabolic process (GO:0090350)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21					Abiraterone(DB05812)|Acebutolol(DB01193)|Acetaminophen(DB00316)|Ajmaline(DB01426)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alprenolol(DB00866)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amoxapine(DB00543)|Amphetamine(DB00182)|Amprenavir(DB00701)|Amsacrine(DB00276)|Antipyrine(DB01435)|Aprindine(DB01429)|Arformoterol(DB01274)|Aripiprazole(DB01238)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzatropine(DB00245)|Benzyl alcohol(DB06770)|Bepridil(DB01244)|Betaxolol(DB00195)|Bicalutamide(DB01128)|Biperiden(DB00810)|Bisoprolol(DB00612)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Caffeine(DB00201)|Captopril(DB01197)|Carbinoxamine(DB00748)|Carteolol(DB00521)|Carvedilol(DB01136)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Cisapride(DB00604)|Citalopram(DB00215)|Clemastine(DB00283)|Clevidipine(DB04920)|Clomipramine(DB01242)|Clonidine(DB00575)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Darifenacin(DB00496)|Debrisoquin(DB04840)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dihydrocodeine(DB01551)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronedarone(DB04855)|Duloxetine(DB00476)|Efavirenz(DB00625)|Eletriptan(DB00216)|Encainide(DB01228)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erlotinib(DB00530)|Escitalopram(DB01175)|Ethylmorphine(DB01466)|Etoricoxib(DB01628)|Felodipine(DB01023)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fingolimod(DB08868)|Flecainide(DB01195)|Flunarizine(DB04841)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Galantamine(DB00674)|Gefitinib(DB00317)|Glutethimide(DB01437)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Histamine Phosphate(DB00667)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Hydroxychloroquine(DB01611)|Hydroxyurea(DB01005)|Hydroxyzine(DB00557)|Idarubicin(DB01177)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Isoniazid(DB00951)|Itraconazole(DB01167)|Ketoconazole(DB01026)|L-DOPA(DB01235)|Labetalol(DB00598)|Lansoprazole(DB00448)|Lercanidipine(DB00528)|Levomilnacipran(DB08918)|Lidocaine(DB00281)|Lisuride(DB00589)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Lovastatin(DB00227)|Lumefantrine(DB06708)|Maprotiline(DB00934)|Mefloquine(DB00358)|Mepyramine(DB06691)|Mequitazine(DB01071)|Mesoridazine(DB00933)|Methadone(DB00333)|Methamphetamine(DB01577)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Methylnaltrexone(DB06800)|Methylphenidate(DB00422)|Methyprylon(DB01107)|Metoclopramide(DB01233)|Metoprolol(DB00264)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midodrine(DB00211)|Mifepristone(DB00834)|Minaprine(DB00805)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Morphine(DB00295)|Nateglinide(DB00731)|Nebivolol(DB04861)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niacin(DB00627)|Nicardipine(DB00622)|Nicergoline(DB00699)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitrofural(DB00336)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxamniquine(DB01096)|Oxprenolol(DB01580)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paliperidone(DB01267)|Palonosetron(DB00377)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Pergolide(DB01186)|Perhexiline(DB01074)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenformin(DB00914)|Phentermine(DB00191)|Pimozide(DB01100)|Pindolol(DB00960)|Pioglitazone(DB01132)|Piperazine(DB00592)|Pipotiazine(DB01621)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Primaquine(DB01087)|Procainamide(DB01035)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Pyrimethamine(DB00205)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Remoxipride(DB00409)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivastigmine(DB00989)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tapentadol(DB06204)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Terbinafine(DB00857)|Tetrabenazine(DB04844)|Theophylline(DB00277)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Timolol(DB00373)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tolterodine(DB01036)|Trabectedin(DB05109)|Tramadol(DB00193)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Trospium(DB00209)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vinorelbine(DB00361)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Ziprasidone(DB00246)|Zolpidem(DB00425)	GTAGGGCATGTGAGCCTGGTC	0.592																																						ENST00000360608.5																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1054-1056)cAc>cGc		cytochrome P450, family 2, subfamily D, polypeptide 6							99.0	76.0	84.0					22																	42523567		2203	4300	6503	SO:0001583	missense	1565						electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	g.chr22:42523567T>C	M20403	CCDS33657.1, CCDS46721.1	22q13.1	2014-09-17	2003-01-14		ENSG00000100197	ENSG00000100197		"""Cytochrome P450s"""	2625	protein-coding gene	gene with protein product		124030	"""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6"", ""cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2"", ""cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2"", ""cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2"", ""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2"""	CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP		8449513	Standard	NM_000106		Approved	CPD6, P450-DB1, CYP2D, P450C2D	uc003bce.3	P10635	OTTHUMG00000150918	ENST00000360608.5:c.1055A>G	22.37:g.42523567T>C	ENSP00000353820:p.His352Arg					NDUFA6-AS1_ENST00000416037.1_RNA|CYP2D6_ENST00000389970.3_Missense_Mutation_p.H352R|CYP2D6_ENST00000359033.4_Missense_Mutation_p.H301R|NDUFA6-AS1_ENST00000439129.1_RNA	p.H352R	NM_000106.5	NP_000097.3	Q6NWU0	Q6NWU0_HUMAN			7	1169	-			352					Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Missense_Mutation	SNP	ENST00000360608.5	37	c.1055A>G	CCDS46721.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.874767	0.00542	.	.	ENSG00000100197	ENST00000360608;ENST00000389970;ENST00000413640;ENST00000359033;ENST00000542856	T;T;T	0.78003	-1.14;-1.14;5.16	4.93	-5.98	0.02220	.	0.762168	0.12266	N	0.484237	T	0.44371	0.1290	N	0.03209	-0.39	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.49799	-0.8901	10	0.02654	T	1	.	9.7516	0.40478	0.0989:0.2372:0.0:0.6639	.	352;301;352	C1ID54;Q6NXU8;Q6NWU0	.;.;.	R	352;352;298;301;301	ENSP00000353820:H352R;ENSP00000374620:H352R;ENSP00000351927:H301R	ENSP00000351927:H301R	H	-	2	0	CYP2D6	40853511	0.000000	0.05858	0.010000	0.14722	0.037000	0.13140	-0.542000	0.06091	-1.267000	0.02443	-1.442000	0.01069	CAC		0.592	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320525.1			5	46	0	0	0	1	0	5	46				
OR10J5	127385	broad.mit.edu	37	1	159504970	159504970	+	Silent	SNP	C	C	T	rs368317841		TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr1:159504970C>T	ENST00000334857.2	-	1	872	c.828G>A	c.(826-828)acG>acA	p.T276T		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	276						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					TGATGGTGTACGTCACTGAGA	0.458																																						ENST00000334857.2																			0				kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(826-828)acG>acA		olfactory receptor, family 10, subfamily J, member 5		C		0,4406		0,0,2203	90.0	86.0	88.0		828	-1.4	1.0	1		88	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	OR10J5	NM_001004469.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		276/310	159504970	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	127385				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:159504970C>T		CCDS30910.1	1q23.2	2012-08-09			ENSG00000184155	ENSG00000184155		"""GPCR / Class A : Olfactory receptors"""	14993	protein-coding gene	gene with protein product							Standard	NM_001004469		Approved		uc010piw.2	Q8NHC4	OTTHUMG00000022738	ENST00000334857.2:c.828G>A	1.37:g.159504970C>T							p.T276T	NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN			1	872	-	all_hematologic(112;0.0429)		276					B9EH35|Q6IFH2	Silent	SNP	ENST00000334857.2	37	c.828G>A	CCDS30910.1																																																																																				0.458	OR10J5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059021.1	NM_001004469		49	62	0	0	0	1	0	49	62				
CHRND	1144	broad.mit.edu	37	2	233391274	233391274	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr2:233391274C>T	ENST00000258385.3	+	2	120	c.88C>T	c.(88-90)Cgg>Tgg	p.R30W	CHRND_ENST00000536614.1_Missense_Mutation_p.R30W|CHRND_ENST00000543200.1_Missense_Mutation_p.R30W|CHRND_ENST00000457943.2_5'UTR	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	30					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|musculoskeletal movement (GO:0050881)|neuromuscular process (GO:0050905)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	Galantamine(DB00674)	GCGGCTGATCCGGCACCTGTT	0.632																																						ENST00000258385.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34						c.(88-90)Cgg>Tgg		cholinergic receptor, nicotinic, delta (muscle)							62.0	65.0	64.0					2																	233391274		2203	4300	6503	SO:0001583	missense	1144				muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	g.chr2:233391274C>T	X55019	CCDS2494.1, CCDS58754.1	2q37.1	2012-02-11	2012-02-07		ENSG00000135902	ENSG00000135902		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1965	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, delta (muscle)"""	100720	"""cholinergic receptor, nicotinic, delta"""	ACHRD			Standard	NM_000751		Approved		uc002vsw.4	Q07001	OTTHUMG00000133261	ENST00000258385.3:c.88C>T	2.37:g.233391274C>T	ENSP00000258385:p.Arg30Trp					CHRND_ENST00000536614.1_Missense_Mutation_p.R30W|CHRND_ENST00000457943.2_5'UTR|CHRND_ENST00000543200.1_Missense_Mutation_p.R30W	p.R30W	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	2	120	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	30					A8K661|B4DT92|Q52LH4	Missense_Mutation	SNP	ENST00000258385.3	37	c.88C>T	CCDS2494.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.499943	0.64298	.	.	ENSG00000135902	ENST00000449596;ENST00000543200;ENST00000258385;ENST00000536614	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	4.73	2.89	0.33648	Neurotransmitter-gated ion-channel ligand-binding (3);	0.545043	0.18661	N	0.134732	D	0.82305	0.5008	M	0.81497	2.545	0.58432	D	0.999999	D;D	0.63046	0.992;0.992	P;P	0.49887	0.625;0.625	D	0.83886	0.0282	10	0.87932	D	0	.	13.0182	0.58771	0.5518:0.4482:0.0:0.0	.	30;30	B4DT92;Q07001	.;ACHD_HUMAN	W	30	ENSP00000404950:R30W;ENSP00000438380:R30W;ENSP00000258385:R30W;ENSP00000437740:R30W	ENSP00000258385:R30W	R	+	1	2	CHRND	233099518	0.145000	0.22656	0.940000	0.37924	0.759000	0.43091	0.840000	0.27600	0.578000	0.29487	0.655000	0.94253	CGG		0.632	CHRND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257038.2			36	56	0	0	0	1	0	36	56				
SPG20	23111	broad.mit.edu	37	13	36909834	36909834	+	Missense_Mutation	SNP	T	T	A			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr13:36909834T>A	ENST00000451493.1	-	2	351	c.134A>T	c.(133-135)tAc>tTc	p.Y45F	SPG20_ENST00000355182.4_Missense_Mutation_p.Y45F|SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000494062.2_Missense_Mutation_p.Y45F|SPG20_ENST00000438666.2_Missense_Mutation_p.Y45F	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	45	MIT.				abscission (GO:0009838)|adipose tissue development (GO:0060612)|cell death (GO:0008219)|cell division (GO:0051301)|lipid particle organization (GO:0034389)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of collateral sprouting in absence of injury (GO:0048698)|neuromuscular process (GO:0050905)|regulation of mitochondrial membrane potential (GO:0051881)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|midbody (GO:0030496)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		TTGCTTATAGTAGTTCTTTGC	0.398																																						ENST00000451493.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27						c.(133-135)tAc>tTc		spastic paraplegia 20 (Troyer syndrome)							169.0	154.0	159.0					13																	36909834		2203	4300	6503	SO:0001583	missense	23111				cell death	cytoplasm	ubiquitin protein ligase binding	g.chr13:36909834T>A	AB011182	CCDS9356.1	13q13.1	2008-07-04	2007-04-23		ENSG00000133104	ENSG00000133104			18514	protein-coding gene	gene with protein product	"""spartin"""	607111				6022528, 12134148	Standard	NM_001142294		Approved	KIAA0610, TAHCCP1	uc001uvm.3	Q8N0X7	OTTHUMG00000016730	ENST00000451493.1:c.134A>T	13.37:g.36909834T>A	ENSP00000414147:p.Tyr45Phe					SPG20_ENST00000438666.2_Missense_Mutation_p.Y45F|SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000355182.4_Missense_Mutation_p.Y45F|SPG20_ENST00000494062.2_Missense_Mutation_p.Y45F	p.Y45F	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)	2	351	-		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	45			MIT.		O60349|Q86Y67|Q9H1T2|Q9H1T3	Missense_Mutation	SNP	ENST00000451493.1	37	c.134A>T	CCDS9356.1	.	.	.	.	.	.	.	.	.	.	T	14.43	2.534013	0.45073	.	.	ENSG00000133104	ENST00000438666;ENST00000355182;ENST00000451493;ENST00000423217	T;T;T	0.70986	-0.53;-0.53;-0.53	5.9	4.7	0.59300	MIT (2);	0.183555	0.49916	D	0.000124	T	0.77425	0.4128	L	0.46157	1.445	0.35473	D	0.797513	P;D;P	0.76494	0.689;0.999;0.689	P;D;P	0.87578	0.669;0.998;0.669	T	0.79704	-0.1692	10	0.30854	T	0.27	-5.8829	12.2502	0.54593	0.0:0.0675:0.0:0.9325	.	45;45;45	A8K6Q9;B3KMI3;Q8N0X7	.;.;SPG20_HUMAN	F	45	ENSP00000406061:Y45F;ENSP00000347314:Y45F;ENSP00000414147:Y45F	ENSP00000347314:Y45F	Y	-	2	0	SPG20	35807834	0.997000	0.39634	0.998000	0.56505	0.644000	0.38419	3.317000	0.51968	2.257000	0.74773	0.491000	0.48974	TAC		0.398	SPG20-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044494.2			4	125	0	0	0	1	0	4	125				
CLMN	79789	broad.mit.edu	37	14	95677044	95677044	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr14:95677044G>C	ENST00000298912.4	-	7	894	c.781C>G	c.(781-783)Ccc>Gcc	p.P261A		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	261	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		AGGAGCCTGGGGATGTGCAGG	0.473																																						ENST00000298912.4																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44						c.(781-783)Ccc>Gcc		calmin (calponin-like, transmembrane)							113.0	109.0	110.0					14																	95677044		2203	4300	6503	SO:0001583	missense	79789					integral to membrane	actin binding	g.chr14:95677044G>C	AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.781C>G	14.37:g.95677044G>C	ENSP00000298912:p.Pro261Ala						p.P261A	NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN		Epithelial(152;0.193)	7	894	-			261			Actin-binding.|CH 2.		B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Missense_Mutation	SNP	ENST00000298912.4	37	c.781C>G	CCDS9933.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.691462	0.88735	.	.	ENSG00000165959	ENST00000298912	D	0.95412	-3.7	5.92	5.92	0.95590	Calponin homology domain (5);	0.000000	0.39146	N	0.001452	D	0.96713	0.8927	L	0.39245	1.2	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.96966	0.9705	10	0.72032	D	0.01	.	20.3081	0.98638	0.0:0.0:1.0:0.0	.	261	Q96JQ2	CLMN_HUMAN	A	261	ENSP00000298912:P261A	ENSP00000298912:P261A	P	-	1	0	CLMN	94746797	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.795000	0.96236	0.655000	0.94253	CCC		0.473	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414518.2			46	54	0	0	0	1	0	46	54				
NPY4R	5540	broad.mit.edu	37	10	47086811	47086811	+	Silent	SNP	C	C	T			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr10:47086811C>T	ENST00000395716.1	+	2	113	c.28C>T	c.(28-30)Ctg>Ttg	p.L10L	NPY4R_ENST00000374312.1_Silent_p.L10L			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	10					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|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)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)										CCTGGCCTTGCTGCTCCCAAA	0.488																																						ENST00000374312.1																			0											c.(28-30)Ctg>Ttg		neuropeptide Y receptor Y4							114.0	107.0	109.0					10																	47086811		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr10:47086811C>T		CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"""GPCR / Class A : Neuropeptide receptors : Y"""	9329	protein-coding gene	gene with protein product		601790	"""pancreatic polypeptide receptor 1"""	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.28C>T	10.37:g.47086811C>T						NPY4R_ENST00000395716.1_Silent_p.L10L	p.L10L	NM_005972.4	NP_005963.3					3	447	+								Q13456|Q5ISU3|Q5T2X9|Q6FH06	Silent	SNP	ENST00000395716.1	37	c.28C>T	CCDS31193.1																																																																																				0.488	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047837.1			5	144	0	0	0	1	0	5	144				
KIF27	55582	broad.mit.edu	37	9	86518658	86518658	+	Nonsense_Mutation	SNP	C	C	A			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr9:86518658C>A	ENST00000297814.2	-	4	918	c.775G>T	c.(775-777)Gaa>Taa	p.E259*	KIF27_ENST00000334204.2_Nonsense_Mutation_p.E259*|KIF27_ENST00000413982.1_Nonsense_Mutation_p.E259*	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	259	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TTGAACCGTTCACCAGTATTC	0.438																																						ENST00000297814.2																			0				breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						c.(775-777)Gaa>Taa		kinesin family member 27							70.0	71.0	71.0					9																	86518658		2203	4300	6503	SO:0001587	stop_gained	55582				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:86518658C>A	AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"""Kinesins"""	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.775G>T	9.37:g.86518658C>A	ENSP00000297814:p.Glu259*					KIF27_ENST00000413982.1_Nonsense_Mutation_p.E259*|KIF27_ENST00000334204.2_Nonsense_Mutation_p.E259*	p.E259*	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN			4	918	-			259			Kinesin-motor.		B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Nonsense_Mutation	SNP	ENST00000297814.2	37	c.775G>T	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	C	36	5.974499	0.97162	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204	.	.	.	5.66	4.71	0.59529	.	0.000000	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	16.0938	0.81109	0.0:0.8662:0.1338:0.0	.	.	.	.	X	259	.	ENSP00000297814:E259X	E	-	1	0	KIF27	85708478	0.998000	0.40836	0.998000	0.56505	0.998000	0.95712	3.845000	0.55880	2.657000	0.90304	0.655000	0.94253	GAA		0.438	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	NM_017576		6	131	1	0	5.9392e-07	1	6.6298e-07	6	131				
LRP1	4035	broad.mit.edu	37	12	57605713	57605713	+	Missense_Mutation	SNP	T	T	C	rs140219533		TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr12:57605713T>C	ENST00000243077.3	+	87	13728	c.13262T>C	c.(13261-13263)aTa>aCa	p.I4421T		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4421					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCTCCAGATATAGCCTCCATC	0.612																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(13261-13263)aTa>aCa		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	T	THR/ILE	0,4406		0,0,2203	157.0	133.0	141.0		13262	5.0	1.0	12	dbSNP_134	141	1,8599	2.2+/-6.3	0,1,4299	yes	missense	LRP1	NM_002332.2	89	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign	4421/4545	57605713	1,13005	2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57605713T>C	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.13262T>C	12.37:g.57605713T>C	ENSP00000243077:p.Ile4421Thr						p.I4421T	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	87	13728	+			4421					Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.13262T>C	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	T	11.06	1.527492	0.27299	0.0	1.16E-4	ENSG00000123384	ENST00000243077	T	0.42900	0.96	4.96	4.96	0.65561	.	0.317552	0.24886	N	0.034807	T	0.12178	0.0296	N	0.01048	-1.04	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17561	-1.0365	10	0.06494	T	0.89	.	6.3632	0.21441	0.0:0.1813:0.0:0.8187	.	4421	Q07954	LRP1_HUMAN	T	4421	ENSP00000243077:I4421T	ENSP00000243077:I4421T	I	+	2	0	LRP1	55891980	0.993000	0.37304	0.979000	0.43373	0.898000	0.52572	4.505000	0.60421	1.864000	0.54056	0.459000	0.35465	ATA		0.612	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		8	84	0	0	0	1	0	8	84				
CD79B	974	broad.mit.edu	37	17	62007606	62007606	+	Silent	SNP	G	G	C	rs369489543		TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr17:62007606G>C	ENST00000006750.3	-	3	350	c.258C>G	c.(256-258)ccC>ccG	p.P86P	CD79B_ENST00000392795.3_Silent_p.P87P|CD79B_ENST00000349817.2_Intron	NM_000626.2|NM_021602.2	NP_000617.1|NP_067613.1	P40259	CD79B_HUMAN	CD79b molecule, immunoglobulin-associated beta	86	Ig-like V-type.				B cell receptor signaling pathway (GO:0050853)|immune response (GO:0006955)|signal transduction (GO:0007165)	B cell receptor complex (GO:0019815)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	15						TCAGCTGCTGGGGATTCTCGT	0.562			"""Mis, O"""		DLBCL																																	ENST00000006750.3				Dom	yes		17	17q23	974	"""Mis, O"""	"""CD79b molecule, immunoglobulin-associated beta"""			L			DLBCL		0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	15						c.(256-258)ccC>ccG		CD79b molecule, immunoglobulin-associated beta		G	,,	0,4406		0,0,2203	120.0	107.0	111.0		258,261,	1.2	0.0	17		111	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,intron	CD79B	NM_000626.2,NM_001039933.1,NM_021602.2	,,	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	,,	86/230,87/231,	62007606	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				cell surface receptor linked signaling pathway|immune response	Golgi apparatus|integral to plasma membrane|nucleus	transmembrane receptor activity	g.chr17:62007606G>C	L27587	CCDS11655.1, CCDS11656.1, CCDS42372.1	17q23	2014-09-17	2006-03-28			ENSG00000007312		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1699	protein-coding gene	gene with protein product		147245	"""CD79B antigen (immunoglobulin-associated beta)"""	IGB		9545642	Standard	XM_005257858		Approved	B29	uc002jdp.1	P40259		ENST00000006750.3:c.258C>G	17.37:g.62007606G>C						CD79B_ENST00000392795.3_Silent_p.P87P|CD79B_ENST00000349817.2_Intron	p.P86P	NM_000626.2|NM_021602.2	NP_000617.1|NP_067613.1	P40259	CD79B_HUMAN			3	350	-			86			Ig-like V-type.		Q53FS2|Q9BU06	Silent	SNP	ENST00000006750.3	37	c.258C>G	CCDS11655.1																																																																																				0.562	CD79B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417711.1			4	67	0	0	0	1	0	4	67				
TANK	10010	broad.mit.edu	37	2	162087928	162087928	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr2:162087928C>A	ENST00000392749.2	+	7	1206	c.967C>A	c.(967-969)Ctg>Atg	p.L323M	TANK_ENST00000259075.2_Missense_Mutation_p.L323M|TANK_ENST00000405852.1_Missense_Mutation_p.L323M|AC009299.2_ENST00000421122.2_RNA|TANK_ENST00000402568.1_Intron|AC009299.2_ENST00000445372.1_RNA|TANK_ENST00000406287.1_Intron	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN	TRAF family member-associated NFKB activator	323					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						CAGGACAACTCTGGATAGAGC	0.428																																						ENST00000392749.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						c.(967-969)Ctg>Atg		TRAF family member-associated NFKB activator							88.0	86.0	87.0					2																	162087928		2203	4300	6503	SO:0001583	missense	10010					cytosol	metal ion binding|protein binding	g.chr2:162087928C>A	U59863	CCDS2215.1, CCDS46436.1	2q24-q31	2008-02-05			ENSG00000136560	ENSG00000136560			11562	protein-coding gene	gene with protein product		603893		TRAF2		8710854, 8855313	Standard	NM_004180		Approved	I-TRAF	uc002ubr.2	Q92844	OTTHUMG00000132037	ENST00000392749.2:c.967C>A	2.37:g.162087928C>A	ENSP00000376505:p.Leu323Met					AC009299.2_ENST00000445372.1_RNA|TANK_ENST00000405852.1_Missense_Mutation_p.L323M|TANK_ENST00000402568.1_Intron|AC009299.2_ENST00000421122.2_RNA|TANK_ENST00000406287.1_Intron|TANK_ENST00000259075.2_Missense_Mutation_p.L323M	p.L323M	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN			7	1206	+			323					D3DPB5|Q7Z4J6|Q92885	Missense_Mutation	SNP	ENST00000392749.2	37	c.967C>A	CCDS2215.1	.	.	.	.	.	.	.	.	.	.	C	11.74	1.728428	0.30593	.	.	ENSG00000136560	ENST00000259075;ENST00000392749;ENST00000405852;ENST00000437623;ENST00000439442	T;T;T;T;T	0.32988	1.87;1.87;1.43;1.43;1.8	5.21	3.32	0.38043	.	0.766138	0.11815	N	0.526825	T	0.28267	0.0698	L	0.40543	1.245	0.44937	D	0.997952	B	0.34015	0.435	B	0.36186	0.219	T	0.02301	-1.1180	10	0.41790	T	0.15	0.8514	11.3151	0.49388	0.0:0.5538:0.3774:0.0688	.	323	Q92844	TANK_HUMAN	M	323;323;323;214;78	ENSP00000259075:L323M;ENSP00000376505:L323M;ENSP00000385487:L323M;ENSP00000412556:L214M;ENSP00000387439:L78M	ENSP00000259075:L323M	L	+	1	2	TANK	161796174	0.867000	0.29959	0.972000	0.41901	0.971000	0.66376	1.641000	0.37197	0.619000	0.30197	0.591000	0.81541	CTG		0.428	TANK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324232.1	NM_133484		4	109	1	0	1	1	1	4	109				
C6orf62	81688	broad.mit.edu	37	6	24718870	24718870	+	Silent	SNP	T	T	C			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr6:24718870T>C	ENST00000378119.4	-	1	2194	c.27A>G	c.(25-27)aaA>aaG	p.K9K	C6orf62_ENST00000540769.1_Intron|C6orf62_ENST00000378102.3_Intron	NM_030939.4	NP_112201.1	Q9GZU0	CF062_HUMAN	chromosome 6 open reading frame 62	9						intracellular (GO:0005622)				endometrium(2)|kidney(3)|large_intestine(2)|lung(3)	10						TCAGAGCTTGTTTCTTCCGGG	0.398																																						ENST00000378119.4																			0				endometrium(2)|kidney(3)|large_intestine(2)|lung(3)	10						c.(25-27)aaA>aaG		chromosome 6 open reading frame 62							123.0	120.0	121.0					6																	24718870		2203	4300	6503	SO:0001819	synonymous_variant	81688					intracellular		g.chr6:24718870T>C	AL136632	CCDS4559.1	6p22.1	2011-12-13			ENSG00000112308	ENSG00000112308			20998	protein-coding gene	gene with protein product	"""HBV X-transactivated protein 12"""					11230166	Standard	NM_030939		Approved	FLJ12619, DKFZP564G182, XTP12	uc003nel.3	Q9GZU0	OTTHUMG00000014361	ENST00000378119.4:c.27A>G	6.37:g.24718870T>C						C6orf62_ENST00000378102.3_Intron|C6orf62_ENST00000540769.1_Intron	p.K9K	NM_030939.4	NP_112201.1	Q9GZU0	CF062_HUMAN			1	2194	-			9					Q3LIB6|Q5JVZ2|Q5JVZ3|Q6IA63|Q9H1Z2	Silent	SNP	ENST00000378119.4	37	c.27A>G	CCDS4559.1																																																																																				0.398	C6orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040017.1	NM_030939		4	184	0	0	0	1	0	4	184				
MICA	100507436	broad.mit.edu	37	6	31378928	31378928	+	Silent	SNP	C	C	T	rs41553614	byFrequency	TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr6:31378928C>T	ENST00000449934.2	+	3	459	c.405C>T	c.(403-405)taC>taT	p.Y135Y	HCP5_ENST00000414046.2_RNA	NM_001177519.1	NP_001170990.1			MHC class I polypeptide-related sequence A											breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				ATTTCTACTACGATGGGGAGC	0.552													c|||	77	0.0153754	0.0212	0.0245	5008	,	,		20471	0.003		0.0159	False		,,,				2504	0.0133					ENST00000449934.2																			0				breast(1)|endometrium(3)|kidney(1)	5						c.(403-405)taC>taT		MHC class I polypeptide-related sequence A		C		38,1346		1,36,655	45.0	42.0	43.0		405	-3.0	0.0	6	dbSNP_127	43	49,3133		1,47,1543	no	coding-synonymous	MICA	NM_001177519.1		2,83,2198	TT,TC,CC		1.5399,2.7457,1.9054		135/333	31378928	87,4479	692	1591	2283	SO:0001819	synonymous_variant	100507436				antigen processing and presentation|cytolysis|defense response to bacterium|defense response to virus|gamma-delta T cell activation|immune response to tumor cell|response to DNA damage stimulus|response to heat|stimulatory C-type lectin receptor signaling pathway	cell surface|cytoplasm|extracellular space|integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding	g.chr6:31378928C>T	L14848	CCDS56412.1, CCDS75421.1	6p21.3	2013-01-11			ENSG00000204520	ENSG00000204520		"""Immunoglobulin superfamily / C1-set domain containing"""	7090	protein-coding gene	gene with protein product		600169				8022771	Standard	NM_000247		Approved	PERB11.1	uc003ntk.1	Q29983	OTTHUMG00000031073	ENST00000449934.2:c.405C>T	6.37:g.31378928C>T						HCP5_ENST00000414046.2_RNA	p.Y135Y	NM_001177519.1	NP_001170990.1	Q29983	MICA_HUMAN			3	459	+		Ovarian(999;0.0253)	135						Silent	SNP	ENST00000449934.2	37	c.405C>T	CCDS56412.1																																																																																				0.552	MICA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076101.7	NM_001177519		7	10	0	0	0	1	0	7	10				
CCDC114	93233	broad.mit.edu	37	19	48806994	48806994	+	Missense_Mutation	SNP	C	C	T	rs371123768		TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr19:48806994C>T	ENST00000315396.7	-	8	1472	c.790G>A	c.(790-792)Gtg>Atg	p.V264M		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	264					outer dynein arm assembly (GO:0036158)	cilium (GO:0005929)|outer dynein arm (GO:0036157)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		TAGCAAAGCACCAGCCTCTCC	0.622																																						ENST00000315396.7																			0				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24						c.(790-792)Gtg>Atg		coiled-coil domain containing 114		C	MET/VAL	0,4406		0,0,2203	87.0	86.0	86.0		790	0.9	1.0	19		86	1,8599	1.2+/-3.3	0,1,4299	no	missense	CCDC114	NM_144577.3	21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	264/671	48806994	1,13005	2203	4300	6503	SO:0001583	missense	93233							g.chr19:48806994C>T	BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479			26560	protein-coding gene	gene with protein product		615038				23261302, 23261303	Standard	NM_144577		Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161	ENST00000315396.7:c.790G>A	19.37:g.48806994C>T	ENSP00000318429:p.Val264Met						p.V264M	NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)	8	1472	-		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)	264					Q6ZRL4|Q96M06|Q9UFG8	Missense_Mutation	SNP	ENST00000315396.7	37	c.790G>A	CCDS12714.2	.	.	.	.	.	.	.	.	.	.	C	13.69	2.311948	0.40895	0.0	1.16E-4	ENSG00000105479	ENST00000315396	T	0.22539	1.95	3.02	0.86	0.19042	.	.	.	.	.	T	0.32912	0.0845	L	0.52364	1.645	0.22940	N	0.998533	D;D;D	0.76494	0.999;0.998;0.997	D;D;D	0.85130	0.997;0.987;0.961	T	0.09530	-1.0670	9	0.42905	T	0.14	-15.3287	4.6299	0.12496	0.0:0.6891:0.0:0.3109	.	57;264;264	Q96M63-4;Q96M63;Q96M63-5	.;CC114_HUMAN;.	M	264	ENSP00000318429:V264M	ENSP00000318429:V264M	V	-	1	0	CCDC114	53498806	0.949000	0.32298	0.992000	0.48379	0.455000	0.32408	0.528000	0.23002	0.607000	0.29982	0.650000	0.86243	GTG		0.622	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343207.1	NM_144577		11	105	0	0	0	1	0	11	105				
ENOSF1	55556	broad.mit.edu	37	18	677371	677371	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr18:677371T>C	ENST00000251101.7	-	14	1210	c.1122A>G	c.(1120-1122)atA>atG	p.I374M	ENOSF1_ENST00000340116.7_Missense_Mutation_p.I381M|ENOSF1_ENST00000583973.1_5'UTR|ENOSF1_ENST00000319815.6_Missense_Mutation_p.I144M|ENOSF1_ENST00000580982.1_Missense_Mutation_p.I298M|ENOSF1_ENST00000383578.3_Missense_Mutation_p.I292M	NM_017512.5	NP_059982.2	Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	374					cellular amino acid catabolic process (GO:0009063)|cellular carbohydrate catabolic process (GO:0044275)	mitochondrion (GO:0005739)	isomerase activity (GO:0016853)|L-fuconate dehydratase activity (GO:0050023)|magnesium ion binding (GO:0000287)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						CAGAAACTGATATGTAGTCAA	0.423																																						ENST00000319815.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						c.(430-432)atA>atG		enolase superfamily member 1							84.0	86.0	86.0					18																	677371		2203	4300	6503	SO:0001583	missense	55556				cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding	g.chr18:677371T>C	X67098	CCDS11822.1, CCDS11823.1, CCDS45821.1	18p11.32	2005-01-26			ENSG00000132199	ENSG00000132199			30365	protein-coding gene	gene with protein product		607427				14508106	Standard	NM_001126123		Approved	HSRTSBETA, rTS, TYMSAS	uc002kku.4	Q7L5Y1	OTTHUMG00000131470	ENST00000251101.7:c.1122A>G	18.37:g.677371T>C	ENSP00000251101:p.Ile374Met					ENOSF1_ENST00000340116.7_Missense_Mutation_p.I381M|ENOSF1_ENST00000583973.1_5'UTR|ENOSF1_ENST00000580982.1_Missense_Mutation_p.I298M|ENOSF1_ENST00000383578.3_Missense_Mutation_p.I292M|ENOSF1_ENST00000251101.7_Missense_Mutation_p.I374M	p.I144M			Q7L5Y1	ENOF1_HUMAN			6	1696	-			374					A6NMP3|A8K9R5|B3KSL6|B3KXE4|D3DUH0|Q15407|Q15594|Q15595|Q6ZS08|Q9HAS5|Q9HAS6	Missense_Mutation	SNP	ENST00000251101.7	37	c.432A>G	CCDS11822.1	.	.	.	.	.	.	.	.	.	.	T	17.25	3.342239	0.61073	.	.	ENSG00000132199	ENST00000383578;ENST00000319815;ENST00000251101;ENST00000340116	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.99	0.408	0.16377	.	0.085539	0.85682	D	0.000000	T	0.46190	0.1380	M	0.67397	2.05	0.80722	D	1	P;B;P;P;B	0.45672	0.864;0.261;0.864;0.474;0.418	P;B;P;P;P	0.54856	0.762;0.385;0.762;0.488;0.476	T	0.44620	-0.9316	10	0.72032	D	0.01	.	1.6666	0.02803	0.3056:0.0744:0.2212:0.3988	.	381;193;405;374;292	A6NMP3;B3KXE4;Q6ZS08;Q7L5Y1;Q7L5Y1-2	.;.;.;ENOF1_HUMAN;.	M	292;144;374;381	ENSP00000373072:I292M;ENSP00000313346:I144M;ENSP00000251101:I374M;ENSP00000345974:I381M	ENSP00000251101:I374M	I	-	3	3	ENOSF1	667371	0.998000	0.40836	0.995000	0.50966	0.888000	0.51559	0.664000	0.25068	0.502000	0.28037	-0.316000	0.08728	ATA		0.423	ENOSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254312.2	NM_017512		32	56	0	0	0	1	0	32	56				
CROCCP2	84809	broad.mit.edu	37	1	16958545	16958546	+	lincRNA	INS	-	-	C	rs113787707|rs386366308	byFrequency	TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr1:16958545_16958546insC	ENST00000412962.1	-	0	74							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											ggcctcagtttcccatccgtgt	0.55													|||unknown(NO_COVERAGE)	1910	0.38139	0.4319	0.3487	5008	,	,		69201	0.4583		0.3151	False		,,,				2504	0.3252					ENST00000412962.1																			0																																																			0							g.chr1:16958545_16958546insC	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16958548_16958548dupC														0	74	-								Q8NF65|Q96FR5|Q9BRE8	RNA	INS	ENST00000412962.1	37																																																																																						0.550	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		3	3						3	3	---	---	---	---
RP11-435B5.5	0	broad.mit.edu	37	1	143391935	143391936	+	lincRNA	INS	-	-	TG	rs370521196|rs376899040		TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr1:143391935_143391936insTG	ENST00000428624.1	+	0	2065				RP11-435B5.4_ENST00000423249.1_lincRNA																							ATATATATATATAAAGAGATTG	0.252																																						ENST00000428624.1																			0																																																			0							g.chr1:143391935_143391936insTG																													1.37:g.143391935_143391936insTG						RP11-435B5.4_ENST00000423249.1_lincRNA								0	2065	+									RNA	INS	ENST00000428624.1	37																																																																																						0.252	RP11-435B5.5-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	lincRNA	OTTHUMT00000037971.1			7	24						7	24	---	---	---	---
POU4F2	5458	broad.mit.edu	37	4	147560457	147560458	+	In_Frame_Ins	INS	-	-	GGC	rs530695040|rs72269802|rs5862765		TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr4:147560457_147560458insGGC	ENST00000281321.3	+	1	413_414	c.165_166insGGC	c.(166-168)ggc>GGCggc	p.56_56G>GG	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	56	Poly-Gly.				axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					ACGCTggtggtggcggcggcgg	0.762																																						ENST00000281321.3																			0				NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33						c.(163-168)gggcgg>ggGGCgcgg		POU class 4 homeobox 2																																				SO:0001652	inframe_insertion	5458				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr4:147560457_147560458insGGC	U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9219	protein-coding gene	gene with protein product		113725	"""POU domain, class 4, transcription factor 2"", ""POU domain class 4, transcription factor 2"""	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.196_198dupGGC	4.37:g.147560464_147560466dupGGC	ENSP00000281321:p.Gly68dup					AC093887.1_ENST00000584185.1_RNA	p.55_56GR>GAR	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN			1	413_414	+	all_hematologic(180;0.151)		55			Poly-Gly.		B1PJR6|B2RC84|Q13883|Q14987	In_Frame_Ins	INS	ENST00000281321.3	37	c.165_166insGGC	CCDS34074.1																																																																																				0.762	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	NM_004575		6	3						6	3	---	---	---	---
TMA16	55319	broad.mit.edu	37	4	164435271	164435272	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr4:164435271_164435272delAG	ENST00000358572.5	+	4	541_542	c.200_201delAG	c.(199-201)aagfs	p.K67fs	TMA16_ENST00000513134.1_Frame_Shift_Del_p.K67fs|TMA16_ENST00000508268.1_Frame_Shift_Del_p.K67fs|TMA16_ENST00000513272.1_Frame_Shift_Del_p.K67fs|TMA16_ENST00000511562.1_3'UTR	NM_018352.2	NP_060822.2	Q96EY4	TMA16_HUMAN	translation machinery associated 16 homolog (S. cerevisiae)	67						nucleus (GO:0005634)											CCCCAAAAAAAGAGATATTCAA	0.366																																						ENST00000358572.5																			0											c.(199-201)afs		translation machinery associated 16 homolog (S. cerevisiae)																																				SO:0001589	frameshift_variant	55319							g.chr4:164435271_164435272delAG		CCDS43278.1	4q32.3	2012-03-02	2012-03-02	2012-03-02	ENSG00000198498	ENSG00000198498			25638	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 43"""	C4orf43		12477932	Standard	NM_018352		Approved	FLJ11184	uc003iqq.4	Q96EY4	OTTHUMG00000161528	ENST00000358572.5:c.200_201delAG	4.37:g.164435273_164435274delAG	ENSP00000351380:p.Lys67fs					TMA16_ENST00000513272.1_Frame_Shift_Del_p.K67fs|TMA16_ENST00000513134.1_Frame_Shift_Del_p.K67fs|TMA16_ENST00000511562.1_3'UTR|TMA16_ENST00000508268.1_Frame_Shift_Del_p.K67fs	p.K67fs	NM_018352.2	NP_060822.2	Q96EY4	CD043_HUMAN			4	541_542	+			67					Q0P6E4|Q0P6J1|Q9NUR7	Frame_Shift_Del	DEL	ENST00000358572.5	37	c.200_201delAG	CCDS43278.1																																																																																				0.366	TMA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365208.1	NM_018352		12	155						12	155	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578213	7578214	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr17:7578213_7578214delAA	ENST00000269305.4	-	6	824_825	c.635_636delTT	c.(634-636)tttfs	p.F212fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.F212fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.F212fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Frame_Shift_Del_p.F212fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.F212fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.F212fs	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	212	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		F -> I (in sporadic cancers; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in a sporadic cancer; somatic mutation).|F -> Y (in sporadic cancers; 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.F212fs*3(12)|p.0?(8)|p.?(5)|p.R213fs*35(3)|p.F212S(2)|p.F212L(2)|p.D208fs*1(1)|p.R209_R213delRNTFR(1)|p.F119fs*3(1)|p.T211fs*28(1)|p.D207_R213delDDRNTFR(1)|p.D207_V216del10(1)|p.T211_S215delTFRHS(1)|p.F80fs*3(1)|p.F212Y(1)|p.R120fs*35(1)|p.R209fs*6(1)|p.R81fs*>11(1)|p.D208_V216delDRNTFRHSV(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)	CACTATGTCGAAAAGTGTTTCT	0.535		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"""		45	Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(5)|Insertion - Frameshift(5)|Unknown(5)|Substitution - Missense(5)	p.F212fs*3(12)|p.0?(8)|p.?(5)|p.R213fs*35(3)|p.F212S(2)|p.F212L(2)|p.D208fs*1(1)|p.R209_R213delRNTFR(1)|p.F119fs*3(1)|p.T211fs*28(1)|p.D207_R213delDDRNTFR(1)|p.D207_V216del10(1)|p.T211_S215delTFRHS(1)|p.F80fs*3(1)|p.F212Y(1)|p.R120fs*35(1)|p.R209fs*6(1)|p.R81fs*>11(1)|p.D208_V216delDRNTFRHSV(1)	large_intestine(8)|oesophagus(8)|upper_aerodigestive_tract(5)|biliary_tract(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|breast(4)|central_nervous_system(2)|lung(2)|stomach(1)|soft_tissue(1)|liver(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	CD011205	TP53	D		c.(634-636)tfs	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.chr17:7578213_7578214delAA	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.635_636delTT	17.37:g.7578215_7578216delAA	ENSP00000269305:p.Phe212fs	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_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Frame_Shift_Del_p.F212fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.F212fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.F212fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.F212fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.F212fs	p.F212fs	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)	6	767_768	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	212		F -> I (in sporadic cancers; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in a sporadic cancer; somatic mutation).|F -> Y (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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.635_636delTT	CCDS11118.1																																																																																				0.535	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		52	6						52	6	---	---	---	---
CDC27	996	broad.mit.edu	37	17	45219612	45219612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr17:45219612delA	ENST00000066544.3	-	11	1454	c.1361delT	c.(1360-1362)ctafs	p.L454fs	CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	454					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGCTTTTTGTAGATTAAAGGC	0.308																																						ENST00000066544.3																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(1360-1362)cafs		cell division cycle 27							30.0	30.0	30.0					17																	45219612		2201	4295	6496	SO:0001589	frameshift_variant	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45219612delA	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1361delT	17.37:g.45219612delA	ENSP00000066544:p.Leu454fs					CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs	p.L454fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			11	1454	-			454					G3V1C4|Q16349|Q96F35	Frame_Shift_Del	DEL	ENST00000066544.3	37	c.1361delT	CCDS11509.1																																																																																				0.308	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			8	48						8	48	---	---	---	---
CYP2D6	1565	broad.mit.edu	37	22	42524176	42524178	+	Splice_Site	DEL	CTT	CTT	-	rs28371720|rs587777919|rs5030656	byFrequency	TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr22:42524176_42524178delCTT	ENST00000360608.5	-	5	955_957	c.841_843delAAG	c.(841-843)aagdel	p.K281del	NDUFA6-AS1_ENST00000416037.2_RNA|NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6-AS1_ENST00000417327.1_RNA|CYP2D6_ENST00000389970.3_Splice_Site_p.K281del|CYP2D6_ENST00000359033.4_Splice_Site_p.K230del	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	281			Missing (in allele CYP2D6*9). {ECO:0000269|PubMed:1844820}.		alkaloid catabolic process (GO:0009822)|alkaloid metabolic process (GO:0009820)|coumarin metabolic process (GO:0009804)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|isoquinoline alkaloid metabolic process (GO:0033076)|monoterpenoid metabolic process (GO:0016098)|negative regulation of binding (GO:0051100)|negative regulation of cellular organofluorine metabolic process (GO:0090350)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21					Abiraterone(DB05812)|Acebutolol(DB01193)|Acetaminophen(DB00316)|Ajmaline(DB01426)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alprenolol(DB00866)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amoxapine(DB00543)|Amphetamine(DB00182)|Amprenavir(DB00701)|Amsacrine(DB00276)|Antipyrine(DB01435)|Aprindine(DB01429)|Arformoterol(DB01274)|Aripiprazole(DB01238)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzatropine(DB00245)|Benzyl alcohol(DB06770)|Bepridil(DB01244)|Betaxolol(DB00195)|Bicalutamide(DB01128)|Biperiden(DB00810)|Bisoprolol(DB00612)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Caffeine(DB00201)|Captopril(DB01197)|Carbinoxamine(DB00748)|Carteolol(DB00521)|Carvedilol(DB01136)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Cisapride(DB00604)|Citalopram(DB00215)|Clemastine(DB00283)|Clevidipine(DB04920)|Clomipramine(DB01242)|Clonidine(DB00575)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Darifenacin(DB00496)|Debrisoquin(DB04840)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dihydrocodeine(DB01551)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronedarone(DB04855)|Duloxetine(DB00476)|Efavirenz(DB00625)|Eletriptan(DB00216)|Encainide(DB01228)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erlotinib(DB00530)|Escitalopram(DB01175)|Ethylmorphine(DB01466)|Etoricoxib(DB01628)|Felodipine(DB01023)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fingolimod(DB08868)|Flecainide(DB01195)|Flunarizine(DB04841)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Galantamine(DB00674)|Gefitinib(DB00317)|Glutethimide(DB01437)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Histamine Phosphate(DB00667)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Hydroxychloroquine(DB01611)|Hydroxyurea(DB01005)|Hydroxyzine(DB00557)|Idarubicin(DB01177)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Isoniazid(DB00951)|Itraconazole(DB01167)|Ketoconazole(DB01026)|L-DOPA(DB01235)|Labetalol(DB00598)|Lansoprazole(DB00448)|Lercanidipine(DB00528)|Levomilnacipran(DB08918)|Lidocaine(DB00281)|Lisuride(DB00589)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Lovastatin(DB00227)|Lumefantrine(DB06708)|Maprotiline(DB00934)|Mefloquine(DB00358)|Mepyramine(DB06691)|Mequitazine(DB01071)|Mesoridazine(DB00933)|Methadone(DB00333)|Methamphetamine(DB01577)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Methylnaltrexone(DB06800)|Methylphenidate(DB00422)|Methyprylon(DB01107)|Metoclopramide(DB01233)|Metoprolol(DB00264)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midodrine(DB00211)|Mifepristone(DB00834)|Minaprine(DB00805)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Morphine(DB00295)|Nateglinide(DB00731)|Nebivolol(DB04861)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niacin(DB00627)|Nicardipine(DB00622)|Nicergoline(DB00699)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitrofural(DB00336)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxamniquine(DB01096)|Oxprenolol(DB01580)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paliperidone(DB01267)|Palonosetron(DB00377)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Pergolide(DB01186)|Perhexiline(DB01074)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenformin(DB00914)|Phentermine(DB00191)|Pimozide(DB01100)|Pindolol(DB00960)|Pioglitazone(DB01132)|Piperazine(DB00592)|Pipotiazine(DB01621)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Primaquine(DB01087)|Procainamide(DB01035)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Pyrimethamine(DB00205)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Remoxipride(DB00409)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivastigmine(DB00989)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tapentadol(DB06204)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Terbinafine(DB00857)|Tetrabenazine(DB04844)|Theophylline(DB00277)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Timolol(DB00373)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tolterodine(DB01036)|Trabectedin(DB05109)|Tramadol(DB00193)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Trospium(DB00209)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vinorelbine(DB00361)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Ziprasidone(DB00246)|Zolpidem(DB00425)	CCACTCTCACCTTCTCCATCTCT	0.64														36	0.0071885	0.0008	0.013	5008	,	,		19102	0.0		0.0258	False		,,,				2504	0.0					ENST00000360608.5																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	GRCh37	CD033535	CYP2D6	D	rs5030656	c.e5+1		cytochrome P450, family 2, subfamily D, polypeptide 6			,	25,4223		2,21,2101					,	4.0	1.0		dbSNP_113	19	223,8021		12,199,3911	no	coding-near-splice,coding-near-splice	CYP2D6	NM_001025161.1,NM_000106.4	,	14,220,6012	A1A1,A1R,RR		2.705,0.5885,1.9853	,	,		248,12244				SO:0001630	splice_region_variant	1565						electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	g.chr22:42524176_42524178delCTT	M20403	CCDS33657.1, CCDS46721.1	22q13.1	2014-09-17	2003-01-14		ENSG00000100197	ENSG00000100197		"""Cytochrome P450s"""	2625	protein-coding gene	gene with protein product		124030	"""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6"", ""cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2"", ""cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2"", ""cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2"", ""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2"""	CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP		8449513	Standard	NM_000106		Approved	CPD6, P450-DB1, CYP2D, P450C2D	uc003bce.3	P10635	OTTHUMG00000150918	ENST00000360608.5:c.843+1AAG>-	22.37:g.42524176_42524178delCTT						CYP2D6_ENST00000359033.4_Splice_Site_p.K230_splice|NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6-AS1_ENST00000416037.1_RNA|CYP2D6_ENST00000389970.3_Splice_Site_p.K281_splice	p.K281_splice	NM_000106.5	NP_000097.3	Q6NWU0	Q6NWU0_HUMAN			5	955_957	-			281					Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Splice_Site	DEL	ENST00000360608.5	37	c.843_splice	CCDS46721.1																																																																																				0.640	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320525.1		In_Frame_Del	7	11						7	11	---	---	---	---
MBTPS2	51360	broad.mit.edu	37	X	21857869	21857871	+	In_Frame_Del	DEL	TGG	TGG	-	rs398124305		TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chrX:21857869_21857871delTGG	ENST00000379484.5	+	1	116_118	c.17_19delTGG	c.(16-21)ctggtg>ctg	p.V11del	MBTPS2_ENST00000365779.2_In_Frame_Del_p.V11del|MBTPS2_ENST00000465888.1_3'UTR	NM_015884.3	NP_056968.1	O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	11					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						CCGGTGTCGCTGGTGGTGGTGGT	0.685																																						ENST00000365779.2																			0				breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						c.(16-21)ctg>c		membrane-bound transcription factor peptidase, site 2				318,3361		136,29,17,1421,490						2.4	1.0			49	402,6025		122,56,102,2168,1633	no	coding	MBTPS2	NM_015884.3		258,85,119,3589,2123	A1A1,A1R,A1,RR,R		6.2549,8.6437,7.1245				720,9386				SO:0001651	inframe_deletion	51360				cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity	g.chrX:21857869_21857871delTGG	AF019612	CCDS14201.1	Xp22.12-p22.11	2014-02-03	2005-08-17		ENSG00000012174	ENSG00000012174			15455	protein-coding gene	gene with protein product		300294	"""membrane-bound transcription factor protease, site 2"", ""keratosis follicularis spinulosa decalvans"""	KFSD		9847074, 9659902, 20672378	Standard	NM_015884		Approved	S2P	uc004dae.3	O43462	OTTHUMG00000021237	ENST00000379484.5:c.17_19delTGG	X.37:g.21857878_21857880delTGG	ENSP00000368798:p.Val11del					MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000379484.5_In_Frame_Del_p.LV6del	p.LV6del			O43462	MBTP2_HUMAN			1	98_100	+			6					Q9UM70|Q9UMD3	In_Frame_Del	DEL	ENST00000379484.5	37	c.17_19delTGG	CCDS14201.1																																																																																				0.685	MBTPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056026.1			2	4						2	4	---	---	---	---
