#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
NOTUM	147111	broad.mit.edu	37	17	79910954	79910954	+	Silent	SNP	C	C	T			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr17:79910954C>T	ENST00000409678.3	-	11	1757	c.1374G>A	c.(1372-1374)ggG>ggA	p.G458G		NM_178493.5	NP_848588.3	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog (Drosophila)	458						extracellular region (GO:0005576)	hydrolase activity (GO:0016787)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			TCATCTCTTGCCCCGTGAACT	0.667																																						ENST00000409678.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15						c.(1372-1374)ggG>ggA		notum pectinacetylesterase homolog (Drosophila)							69.0	56.0	60.0					17																	79910954		2203	4300	6503	SO:0001819	synonymous_variant	147111					extracellular region	hydrolase activity	g.chr17:79910954C>T	BC060882	CCDS32771.2	17q25.3	2008-02-05			ENSG00000185269	ENSG00000185269			27106	protein-coding gene	gene with protein product		609847					Standard	NM_178493		Approved		uc010wvg.2	Q6P988	OTTHUMG00000154416	ENST00000409678.3:c.1374G>A	17.37:g.79910954C>T							p.G458G	NM_178493.5	NP_848588.3	Q6P988	NOTUM_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		11	1757	-	all_neural(118;0.0878)|Ovarian(332;0.12)		458					Q8N410|Q8NI82	Silent	SNP	ENST00000409678.3	37	c.1374G>A	CCDS32771.2																																																																																				0.667	NOTUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335123.2	NM_178493		3	57	0	0	0	1	0	3	57				
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867	byFrequency	TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr1:145302714A>G	ENST00000369339.3	+	5	592	c.339A>G	c.(337-339)ttA>ttG	p.L113L	NBPF10_ENST00000342960.5_Silent_p.L384L|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Silent_p.L113L			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	384						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.L113L(3)|p.L384L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527																																						ENST00000342960.5																			6	Substitution - coding silent(6)	p.L113L(3)|p.L384L(3)	prostate(2)|kidney(2)|central_nervous_system(2)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(1150-1152)ttA>ttG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145302714A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.339A>G	1.37:g.145302714A>G						NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR	p.L384L	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	8	1187	+	all_hematologic(923;0.032)		384					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000369339.3	37	c.1152A>G																																																																																					0.527	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		5	67	0	0	0	1	0	5	67				
CDH20	28316	broad.mit.edu	37	18	59166542	59166542	+	Nonsense_Mutation	SNP	C	C	T			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr18:59166542C>T	ENST00000262717.4	+	3	768	c.370C>T	c.(370-372)Cga>Tga	p.R124*	CDH20_ENST00000538374.1_Nonsense_Mutation_p.R124*|CDH20_ENST00000536675.2_Nonsense_Mutation_p.R124*			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	124	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GAGGCTCGACCGAGAGGAAAG	0.537																																						ENST00000262717.4																			0				breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61						c.(370-372)Cga>Tga		cadherin 20, type 2							61.0	50.0	54.0					18																	59166542		2203	4300	6503	SO:0001587	stop_gained	28316				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:59166542C>T	AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"""Cadherins / Major cadherins"""	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.370C>T	18.37:g.59166542C>T	ENSP00000262717:p.Arg124*					CDH20_ENST00000538374.1_Nonsense_Mutation_p.R124*|CDH20_ENST00000536675.2_Nonsense_Mutation_p.R124*	p.R124*			Q9HBT6	CAD20_HUMAN			3	768	+		Colorectal(73;0.186)	124			Cadherin 1.		Q495S3	Nonsense_Mutation	SNP	ENST00000262717.4	37	c.370C>T	CCDS11977.1	.	.	.	.	.	.	.	.	.	.	C	40	8.038425	0.98621	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	.	.	.	5.82	2.95	0.34219	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.0986	0.81148	0.542:0.458:0.0:0.0	.	.	.	.	X	124	.	ENSP00000262717:R124X	R	+	1	2	CDH20	57317522	1.000000	0.71417	0.751000	0.31187	0.928000	0.56348	2.353000	0.44089	0.323000	0.23307	0.650000	0.86243	CGA		0.537	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	NM_031891		12	13	0	0	0	1	0	12	13				
ITPR2	3709	broad.mit.edu	37	12	26780982	26780982	+	Silent	SNP	G	G	A			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr12:26780982G>A	ENST00000381340.3	-	23	3464	c.3048C>T	c.(3046-3048)gaC>gaT	p.D1016D	RP11-666F17.1_ENST00000414098.2_RNA|ITPR2_ENST00000545902.1_5'UTR	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1016					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	GTAGTAAAGTGTCTGGAGATC	0.333																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(3046-3048)gaC>gaT		inositol 1,4,5-trisphosphate receptor, type 2							239.0	229.0	232.0					12																	26780982		1854	4097	5951	SO:0001819	synonymous_variant	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26780982G>A	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.3048C>T	12.37:g.26780982G>A						RP11-666F17.1_ENST00000414098.2_RNA|ITPR2_ENST00000545902.1_5'UTR	p.D1016D	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			23	3464	-	Colorectal(261;0.0847)		1016					O94773	Silent	SNP	ENST00000381340.3	37	c.3048C>T	CCDS41764.1																																																																																				0.333	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		81	102	0	0	0	1	0	81	102				
ZNF215	7762	broad.mit.edu	37	11	6977301	6977301	+	Missense_Mutation	SNP	A	A	C			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr11:6977301A>C	ENST00000278319.5	+	7	1681	c.1093A>C	c.(1093-1095)Aca>Cca	p.T365P	ZNF215_ENST00000414517.2_Missense_Mutation_p.T365P|ZNF215_ENST00000529903.1_Intron|ZNF215_ENST00000527171.1_3'UTR	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	365					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		GAGTTTGAGTACAGATATTCG	0.333																																						ENST00000278319.5																			0				NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32						c.(1093-1095)Aca>Cca		zinc finger protein 215							60.0	60.0	60.0					11																	6977301		2201	4296	6497	SO:0001583	missense	7762				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:6977301A>C	AF056618	CCDS7775.1	11p15.4	2013-01-09			ENSG00000149054	ENSG00000149054		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13007	protein-coding gene	gene with protein product		605016					Standard	XM_005253130		Approved	ZKSCAN11, ZSCAN43	uc001mey.3	Q9UL58	OTTHUMG00000165507	ENST00000278319.5:c.1093A>C	11.37:g.6977301A>C	ENSP00000278319:p.Thr365Pro					ZNF215_ENST00000414517.2_Missense_Mutation_p.T365P|ZNF215_ENST00000529903.1_Intron|ZNF215_ENST00000527171.1_3'UTR	p.T365P	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN		Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)	7	1681	+			365					Q96C84	Missense_Mutation	SNP	ENST00000278319.5	37	c.1093A>C	CCDS7775.1	.	.	.	.	.	.	.	.	.	.	A	13.29	2.192454	0.38707	.	.	ENSG00000149054	ENST00000278319;ENST00000414517	T;T	0.15603	2.41;2.41	4.55	-2.82	0.05787	.	0.692910	0.12597	N	0.455087	T	0.06917	0.0176	N	0.08118	0	0.09310	N	1	P	0.45283	0.855	B	0.41571	0.36	T	0.24048	-1.0171	10	0.72032	D	0.01	.	3.1456	0.06471	0.3431:0.0:0.19:0.4669	.	365	Q9UL58	ZN215_HUMAN	P	365	ENSP00000278319:T365P;ENSP00000393202:T365P	ENSP00000278319:T365P	T	+	1	0	ZNF215	6933877	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-0.147000	0.10234	-0.241000	0.09681	0.533000	0.62120	ACA		0.333	ZNF215-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384550.1			22	34	0	0	0	1	0	22	34				
CDH18	1016	broad.mit.edu	37	5	19612698	19612698	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr5:19612698G>A	ENST00000507958.1	-	8	1646	c.656C>T	c.(655-657)aCg>aTg	p.T219M	CDH18_ENST00000502796.1_Missense_Mutation_p.T219M|CDH18_ENST00000382275.1_Missense_Mutation_p.T219M|CDH18_ENST00000506372.1_Missense_Mutation_p.T219M|CDH18_ENST00000274170.4_Missense_Mutation_p.T219M|CDH18_ENST00000511273.1_Missense_Mutation_p.T219M			Q13634	CAD18_HUMAN	cadherin 18, type 2	219	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					ATGTAAGGCCGTTCTAATAAC	0.358																																						ENST00000507958.1																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138						c.(655-657)aCg>aTg		cadherin 18, type 2							124.0	119.0	120.0					5																	19612698		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19612698G>A	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.656C>T	5.37:g.19612698G>A	ENSP00000425093:p.Thr219Met					CDH18_ENST00000382275.1_Missense_Mutation_p.T219M|CDH18_ENST00000502796.1_Missense_Mutation_p.T219M|CDH18_ENST00000511273.1_Missense_Mutation_p.T219M|CDH18_ENST00000506372.1_Missense_Mutation_p.T219M|CDH18_ENST00000274170.4_Missense_Mutation_p.T219M	p.T219M			Q13634	CAD18_HUMAN			8	1646	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		219			Cadherin 2.		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.656C>T	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.649215	0.87958	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43;0.43;0.43	5.95	5.95	0.96441	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.79094	0.4388	M	0.90542	3.125	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81767	-0.0782	9	.	.	.	.	18.9386	0.92597	0.0:0.0:1.0:0.0	.	219;219	B4DHG6;Q13634	.;CAD18_HUMAN	M	219;219;219;219;219;219;165;219	ENSP00000371710:T219M;ENSP00000425093:T219M;ENSP00000274170:T219M;ENSP00000424931:T219M;ENSP00000422138:T219M;ENSP00000427383:T165M;ENSP00000425854:T219M	.	T	-	2	0	CDH18	19648455	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.679000	0.98649	2.817000	0.96982	0.563000	0.77884	ACG		0.358	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		17	42	0	0	0	1	0	17	42				
SALL1	6299	broad.mit.edu	37	16	51175653	51175653	+	Silent	SNP	G	G	A			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr16:51175653G>A	ENST00000251020.4	-	2	513	c.480C>T	c.(478-480)ggC>ggT	p.G160G	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Silent_p.G63G|SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	160	Poly-Gly.				adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			tgccgccgccgccgctgctgc	0.627																																					GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			0				NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126						c.(187-189)ggC>ggT		spalt-like transcription factor 1							24.0	26.0	25.0					16																	51175653		2197	4299	6496	SO:0001819	synonymous_variant	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51175653G>A	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.480C>T	16.37:g.51175653G>A						SALL1_ENST00000251020.4_Silent_p.G160G|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron	p.G63G	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	620	-		all_cancers(37;0.0322)	160					Q99881|Q9NSC3|Q9P1R0	Silent	SNP	ENST00000251020.4	37	c.189C>T	CCDS10747.1																																																																																				0.627	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		9	26	0	0	0	1	0	9	26				
OR7D2	162998	broad.mit.edu	37	19	9296747	9296747	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr19:9296747G>A	ENST00000344248.2	+	1	469	c.290G>A	c.(289-291)tGc>tAc	p.C97Y		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	97					regulation of transcription, DNA-templated (GO:0006355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						TACATGGACTGCCTCACACAG	0.517																																						ENST00000344248.2																			0				breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						c.(289-291)tGc>tAc		olfactory receptor, family 7, subfamily D, member 2							179.0	167.0	171.0					19																	9296747		2203	4300	6503	SO:0001583	missense	162998				regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9296747G>A	AK095468	CCDS32900.1	19p13.2	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8378	protein-coding gene	gene with protein product							Standard	NM_175883		Approved	OR19-4, HTPCRH03, FLJ38149	uc002mkz.1	Q96RA2		ENST00000344248.2:c.290G>A	19.37:g.9296747G>A	ENSP00000345563:p.Cys97Tyr						p.C97Y	NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN			1	469	+			97					Q6IFJ7|Q8N133	Missense_Mutation	SNP	ENST00000344248.2	37	c.290G>A	CCDS32900.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.079205	0.36662	.	.	ENSG00000188000	ENST00000344248	T	0.17054	2.3	2.21	2.21	0.28008	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43747	U	0.000523	T	0.57888	0.2084	H	0.99347	4.525	0.44789	D	0.997796	D	0.89917	1.0	D	0.91635	0.999	T	0.75263	-0.3379	10	0.87932	D	0	.	11.9872	0.53155	0.0:0.0:1.0:0.0	.	97	Q96RA2	OR7D2_HUMAN	Y	97	ENSP00000345563:C97Y	ENSP00000345563:C97Y	C	+	2	0	OR7D2	9157747	1.000000	0.71417	0.873000	0.34254	0.026000	0.11368	8.089000	0.89525	1.583000	0.49898	0.511000	0.50034	TGC		0.517	OR7D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449002.1			6	90	0	0	0	1	0	6	90				
RGS3	5998	broad.mit.edu	37	9	116356449	116356449	+	Intron	SNP	G	G	T			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr9:116356449G>T	ENST00000374140.2	+	23	3289				RGS3_ENST00000394646.3_Intron|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000462403.1_Missense_Mutation_p.A84S|RGS3_ENST00000350696.5_Intron|RGS3_ENST00000462143.1_Intron|RGS3_ENST00000374134.3_Intron|RGS3_ENST00000343817.5_Intron	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3						inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TGTGGCTGCAGCCTGCACCGT	0.677																																						ENST00000462403.1																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(250-252)Gcc>Tcc		regulator of G-protein signaling 3							49.0	55.0	53.0					9																	116356449		2203	4298	6501	SO:0001627	intron_variant	5998				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	g.chr9:116356449G>T	AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.3081-261G>T	9.37:g.116356449G>T						RGS3_ENST00000343817.5_Intron|RGS3_ENST00000350696.5_Intron|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000462143.1_Intron|RGS3_ENST00000374134.3_Intron|RGS3_ENST00000374140.2_Intron|RGS3_ENST00000394646.3_Intron	p.A84S	NM_144489.2	NP_652760.2	P49796	RGS3_HUMAN			1	684	+			0					A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	ENST00000374140.2	37	c.250G>T	CCDS43869.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.629434	0.46944	.	.	ENSG00000138835	ENST00000462403	T	0.60548	0.18	5.02	3.02	0.34903	.	.	.	.	.	T	0.34513	0.0900	N	0.08118	0	0.19575	N	0.999962	B	0.10296	0.003	B	0.06405	0.002	T	0.18398	-1.0338	9	0.40728	T	0.16	.	7.57	0.27902	0.0:0.183:0.6276:0.1894	.	84	Q5VZ06	.	S	84	ENSP00000436168:A84S	ENSP00000436168:A84S	A	+	1	0	RGS3	115396270	0.004000	0.15560	0.009000	0.14445	0.526000	0.34562	0.747000	0.26290	1.078000	0.41014	0.558000	0.71614	GCC		0.677	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		19	41	1	0	1.50039e-11	1	1.7437e-11	19	41				
REN	5972	broad.mit.edu	37	1	204128550	204128550	+	Silent	SNP	G	G	A			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr1:204128550G>A	ENST00000272190.8	-	5	694	c.666C>T	c.(664-666)gaC>gaT	p.D222D	REN_ENST00000367195.2_Silent_p.D222D	NM_000537.3	NP_000528.1	P00797	RENI_HUMAN	renin	222					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cell maturation (GO:0048469)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|drinking behavior (GO:0042756)|hormone-mediated signaling pathway (GO:0009755)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mesonephros development (GO:0001823)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of MAPK cascade (GO:0043408)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cAMP (GO:0051591)|response to cGMP (GO:0070305)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|peptidase activity (GO:0008233)|receptor binding (GO:0005102)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	AAGAGAAGACGTCCTCTTTTA	0.557																																						ENST00000367195.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19						c.(664-666)gaC>gaT		renin	Aliskiren(DB01258)|Remikiren(DB00212)						116.0	106.0	109.0					1																	204128550		2203	4300	6503	SO:0001819	synonymous_variant	5972				angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity	g.chr1:204128550G>A	BC047752	CCDS30981.1	1q32	2008-02-05			ENSG00000143839	ENSG00000143839	3.4.23.15		9958	protein-coding gene	gene with protein product		179820					Standard	NM_000537		Approved		uc001haq.2	P00797	OTTHUMG00000036059	ENST00000272190.8:c.666C>T	1.37:g.204128550G>A						REN_ENST00000272190.8_Silent_p.D222D	p.D222D			P00797	RENI_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		5	709	-	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		222					Q6FI38|Q6T5C2	Silent	SNP	ENST00000272190.8	37	c.666C>T	CCDS30981.1																																																																																				0.557	REN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087891.1	NM_000537		18	30	0	0	0	1	0	18	30				
ARMC5	79798	broad.mit.edu	37	16	31476480	31476480	+	Intron	SNP	G	G	T			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr16:31476480G>T	ENST00000563544.1	+	5	2410				ARMC5_ENST00000412665.2_Intron|ARMC5_ENST00000538189.1_Intron|ARMC5_ENST00000457010.2_Silent_p.L712L|ARMC5_ENST00000408912.3_Intron|ARMC5_ENST00000268314.4_Intron			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5											central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GGGCTGGTCTGTGCTTCTTTC	0.622																																						ENST00000457010.2																			0				central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						c.(2134-2136)ctG>ctT		armadillo repeat containing 5							48.0	54.0	52.0					16																	31476480		2154	4270	6424	SO:0001627	intron_variant	79798						binding	g.chr16:31476480G>T	AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"""Armadillo repeat containing"""	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.1864+272G>T	16.37:g.31476480G>T						ARMC5_ENST00000412665.2_Intron|ARMC5_ENST00000408912.3_Intron|ARMC5_ENST00000268314.4_Intron|ARMC5_ENST00000563544.1_Intron|ARMC5_ENST00000538189.1_Intron	p.L712L	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN			4	2837	+			0					Q86WM9|Q9H7P8|Q9H925	Silent	SNP	ENST00000563544.1	37	c.2136G>T	CCDS45472.1																																																																																				0.622	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432847.1	NM_024742		8	7	1	0	0.000673444	1	0.000689478	8	7				
TUBB8P7	197331	broad.mit.edu	37	16	90161618	90161618	+	RNA	SNP	C	C	T	rs13338202	byFrequency	TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr16:90161618C>T	ENST00000564451.1	+	0	971				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.D118D(2)									CAGTGATGGACGTTGTCAGAA	0.607													.|||	94	0.01877	0.0469	0.0173	5008	,	,		18765	0.0		0.0169	False		,,,				2504	0.0031					ENST00000564451.1																			2	Substitution - coding silent(2)	p.D118D(2)	kidney(2)																																																0							g.chr16:90161618C>T			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161618C>T						TUBB8P7_ENST00000567960.1_RNA								0	971	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.607	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		3	21	0	0	0	1	0	3	21				
CEP57	9702	broad.mit.edu	37	11	95561040	95561040	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr11:95561040G>T	ENST00000325542.5	+	9	1214	c.976G>T	c.(976-978)Gtc>Ttc	p.V326F	CEP57_ENST00000541150.1_Missense_Mutation_p.V317F|CEP57_ENST00000537677.1_Missense_Mutation_p.V299F|CEP57_ENST00000325486.5_Missense_Mutation_p.V300F	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	326	Mediates interaction with microtubules. {ECO:0000250}.				fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|mitotic cell cycle (GO:0000278)|protein homooligomerization (GO:0051260)|protein import into nucleus, translocation (GO:0000060)|spermatid development (GO:0007286)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	fibroblast growth factor binding (GO:0017134)|protein homodimerization activity (GO:0042803)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CAATGATCGAGTCATCAACAG	0.443									Mosaic Variegated Aneuploidy Syndrome																													ENST00000325542.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13						c.(976-978)Gtc>Ttc		centrosomal protein 57kDa							170.0	158.0	162.0					11																	95561040		2201	4298	6499	SO:0001583	missense	9702	Mosaic Variegated Aneuploidy Syndrome	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development	centrosome|cytosol|Golgi apparatus|microtubule|nucleus	fibroblast growth factor binding|protein homodimerization activity	g.chr11:95561040G>T	D42054	CCDS8304.1, CCDS58166.1, CCDS58167.1	11q21	2014-09-17			ENSG00000166037	ENSG00000166037			30794	protein-coding gene	gene with protein product		607951				7788527	Standard	NM_014679		Approved	Translokin, TSP57, KIAA0092	uc001pfp.2	Q86XR8	OTTHUMG00000167740	ENST00000325542.5:c.976G>T	11.37:g.95561040G>T	ENSP00000317902:p.Val326Phe					CEP57_ENST00000325486.5_Missense_Mutation_p.V300F|CEP57_ENST00000537677.1_Missense_Mutation_p.V299F|CEP57_ENST00000541150.1_Missense_Mutation_p.V317F	p.V326F	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN			9	1214	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	326			Mediates interaction with microtubules (By similarity).		A0PJH1|A8K5D0|B4DDP5|F5H5F7|Q14704|Q5JB46|Q8IXP0|Q9BVF9	Missense_Mutation	SNP	ENST00000325542.5	37	c.976G>T	CCDS8304.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.39|17.39	3.376613|3.376613	0.61735|0.61735	.|.	.|.	ENSG00000166037|ENSG00000166037	ENST00000535224|ENST00000537677;ENST00000325542;ENST00000325486;ENST00000541150;ENST00000537093	.|T;T;T;T;T	.|0.52754	.|1.24;1.22;1.19;1.22;0.65	5.85|5.85	5.85|5.85	0.93711|0.93711	.|.	.|0.000000	.|0.64402	.|D	.|0.000003	T|T	0.70605|0.70605	0.3243|0.3243	M|M	0.71581|0.71581	2.175|2.175	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.999;0.999	.|D;D;D	.|0.87578	.|0.998;0.977;0.996	T|T	0.71692|0.71692	-0.4516|-0.4516	5|10	.|0.87932	.|D	.|0	-6.7638|-6.7638	20.1699|20.1699	0.98157|0.98157	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|317;300;326	.|F5H5F7;Q86XR8-2;Q86XR8	.|.;.;CEP57_HUMAN	I|F	115|299;326;300;317;85	.|ENSP00000441392:V299F;ENSP00000317902:V326F;ENSP00000317487:V300F;ENSP00000443436:V317F;ENSP00000444749:V85F	.|ENSP00000317487:V300F	S|V	+|+	2|1	0|0	CEP57|CEP57	95200688|95200688	1.000000|1.000000	0.71417|0.71417	0.248000|0.248000	0.24265|0.24265	0.059000|0.059000	0.15707|0.15707	6.259000|6.259000	0.72494|0.72494	2.775000|2.775000	0.95449|0.95449	0.467000|0.467000	0.42956|0.42956	AGT|GTC		0.443	CEP57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395983.1	NM_014679		26	45	1	0	3.73988e-18	1	4.46708e-18	26	45				
TP53	7157	broad.mit.edu	37	17	7577514	7577514	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr17:7577514G>A	ENST00000269305.4	-	7	956	c.767C>T	c.(766-768)aCa>aTa	p.T256I	TP53_ENST00000455263.2_Missense_Mutation_p.T256I|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.T256I|TP53_ENST00000445888.2_Missense_Mutation_p.T256I|TP53_ENST00000420246.2_Missense_Mutation_p.T256I|TP53_ENST00000413465.2_Missense_Mutation_p.T256I	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	256	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		T -> I (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).|T -> S (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.0?(8)|p.T256I(2)|p.T256K(2)|p.?(1)|p.T256fs*8(1)|p.I254fs*7(1)|p.T256fs*90(1)|p.T256fs*89(1)|p.T256del(1)|p.R249_T256delRPILTIIT(1)|p.T256fs*87(1)|p.I254_T256del(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)	GTCTTCCAGTGTGATGATGGT	0.592		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"""		21	Whole gene deletion(8)|Substitution - Missense(4)|Deletion - In frame(3)|Deletion - Frameshift(3)|Insertion - Frameshift(2)|Unknown(1)	p.0?(8)|p.T256I(2)|p.T256K(2)|p.?(1)|p.T256fs*8(1)|p.I254fs*7(1)|p.T256fs*90(1)|p.T256fs*89(1)|p.T256del(1)|p.R249_T256delRPILTIIT(1)|p.T256fs*87(1)|p.I254_T256del(1)	ovary(4)|bone(4)|large_intestine(3)|central_nervous_system(3)|breast(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1)|kidney(1)|skin(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	CM951232	TP53	M		c.(766-768)aCa>aTa	Other conserved DNA damage response genes	tumor protein p53							144.0	103.0	117.0					17																	7577514		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577514G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.767C>T	17.37:g.7577514G>A	ENSP00000269305:p.Thr256Ile	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_ENST00000413465.2_Missense_Mutation_p.T256I|TP53_ENST00000445888.2_Missense_Mutation_p.T256I|TP53_ENST00000455263.2_Missense_Mutation_p.T256I|TP53_ENST00000359597.4_Missense_Mutation_p.T256I|TP53_ENST00000269305.4_Missense_Mutation_p.T256I	p.T256I	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)	7	899	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	256		T -> I (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.767C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.135670	0.56828	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99846	-7.13;-7.13;-7.13;-7.13;-7.13;-7.13;-7.13	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.050722	0.85682	D	0.000000	D	0.99768	0.9905	M	0.86028	2.79	0.58432	D	0.999992	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.998	D	0.97397	0.9993	10	0.87932	D	0	-15.8677	10.9866	0.47526	0.0922:0.0:0.9078:0.0	.	256;256;256;256;256	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	I	256;256;256;256;256;256;245;124	ENSP00000410739:T256I;ENSP00000352610:T256I;ENSP00000269305:T256I;ENSP00000398846:T256I;ENSP00000391127:T256I;ENSP00000391478:T256I;ENSP00000425104:T124I	ENSP00000269305:T256I	T	-	2	0	TP53	7518239	1.000000	0.71417	0.923000	0.36655	0.398000	0.30690	9.601000	0.98297	1.305000	0.44909	0.462000	0.41574	ACA		0.592	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		15	5	0	0	0	1	0	15	5				
OR4P4	81300	broad.mit.edu	37	11	55406192	55406192	+	Missense_Mutation	SNP	G	G	A	rs143338269	byFrequency	TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr11:55406192G>A	ENST00000314612.2	+	1	359	c.359G>A	c.(358-360)cGc>cAc	p.R120H		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						GCCTATGACCGCTATGTGGCC	0.403													g|||	5	0.000998403	0.0038	0.0	5008	,	,		15032	0.0		0.0	False		,,,				2504	0.0					ENST00000314612.2																			0				autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						c.(358-360)cGc>cAc		olfactory receptor, family 4, subfamily P, member 4		G	HIS/ARG	10,4348		1,8,2170	92.0	80.0	84.0		359	3.5	1.0	11	dbSNP_134	84	0,8032		0,0,4016	yes	missense	OR4P4	NM_001004124.1	29	1,8,6186	AA,AG,GG		0.0,0.2295,0.0807	benign	120/313	55406192	10,12380	2179	4016	6195	SO:0001583	missense	81300				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55406192G>A	AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"""GPCR / Class A : Olfactory receptors"""	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.359G>A	11.37:g.55406192G>A	ENSP00000324831:p.Arg120His						p.R120H	NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN			1	359	+			120						Missense_Mutation	SNP	ENST00000314612.2	37	c.359G>A	CCDS31504.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	11.25	1.582094	0.28180	0.002295	0.0	ENSG00000181927	ENST00000314612	T	0.77489	-1.1	5.37	3.51	0.40186	GPCR, rhodopsin-like superfamily (1);	0.175331	0.27927	N	0.017297	T	0.78117	0.4233	M	0.84773	2.715	0.34429	D	0.698286	B	0.22480	0.07	B	0.19148	0.024	T	0.79581	-0.1744	10	0.59425	D	0.04	-3.8644	10.5555	0.45114	0.1571:0.0:0.8429:0.0	.	120	Q8NGL7	OR4P4_HUMAN	H	120	ENSP00000324831:R120H	ENSP00000324831:R120H	R	+	2	0	OR4P4	55162768	0.865000	0.29922	0.965000	0.40720	0.063000	0.16089	4.768000	0.62293	0.645000	0.30675	-0.154000	0.13518	CGC		0.403	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	NM_001004124		31	5	0	0	0	1	0	31	5				
INSIG1	3638	broad.mit.edu	37	7	155094516	155094516	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr7:155094516G>A	ENST00000340368.4	+	5	975	c.764G>A	c.(763-765)gGa>gAa	p.G255E	INSIG1_ENST00000344756.4_Missense_Mutation_p.G103E|INSIG1_ENST00000342407.5_Missense_Mutation_p.E158K	NM_005542.4	NP_005533.2	O15503	INSI1_HUMAN	insulin induced gene 1	255					cell proliferation (GO:0008283)|cholesterol biosynthetic process (GO:0006695)|cranial suture morphogenesis (GO:0060363)|inner ear morphogenesis (GO:0042472)|metabolic process (GO:0008152)|middle ear morphogenesis (GO:0042474)|negative regulation of cargo loading into COPII-coated vesicle (GO:1901303)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of steroid biosynthetic process (GO:0010894)|palate development (GO:0060021)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|SREBP-SCAP-Insig complex (GO:0032937)				endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	19	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTTTTCTCAGGAGGCGTCACG	0.408																																						ENST00000340368.4																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	19						c.(763-765)gGa>gAa		insulin induced gene 1							186.0	180.0	182.0					7																	155094516		2203	4300	6503	SO:0001583	missense	3638				cell proliferation|ER-nuclear sterol response pathway	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr7:155094516G>A		CCDS5938.1, CCDS5939.1	7q36	2008-07-18			ENSG00000186480	ENSG00000186480			6083	protein-coding gene	gene with protein product	"""INSIG-1 membrane protein"""	602055				9268630	Standard	NM_005542		Approved	CL-6, MGC1405	uc003wly.3	O15503	OTTHUMG00000151330	ENST00000340368.4:c.764G>A	7.37:g.155094516G>A	ENSP00000344741:p.Gly255Glu					INSIG1_ENST00000344756.4_Missense_Mutation_p.G103E|INSIG1_ENST00000342407.5_Missense_Mutation_p.E158K	p.G255E	NM_005542.4	NP_005533.2	O15503	INSI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	5	975	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	255					A4D2N1|A8K6L0|Q53XW8|Q9BUV5	Missense_Mutation	SNP	ENST00000340368.4	37	c.764G>A	CCDS5938.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.352321|5.352321	0.95830|0.95830	.|.	.|.	ENSG00000186480|ENSG00000186480	ENST00000342407|ENST00000340368;ENST00000344756	T|T;T	0.48201|0.59083	0.82|0.35;0.29	5.19|5.19	5.19|5.19	0.71726|0.71726	.|.	.|0.102264	.|0.64402	.|D	.|0.000002	T|T	0.79240|0.79240	0.4412|0.4412	M|M	0.83483|0.83483	2.645|2.645	0.80722|0.80722	D|D	1|1	P|D;D	0.46395|0.89917	0.877|1.0;1.0	B|D;D	0.43360|0.97110	0.417|0.996;1.0	T|T	0.82307|0.82307	-0.0522|-0.0522	9|10	0.87932|0.87932	D|D	0|0	.|.	19.0723|19.0723	0.93145|0.93145	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	158|103;255	A4D2N1|F5H6P3;O15503	.|.;INSI1_HUMAN	K|E	158|255;103	ENSP00000344035:E158K|ENSP00000344741:G255E;ENSP00000340010:G103E	ENSP00000344035:E158K|ENSP00000344741:G255E	E|G	+|+	1|2	0|0	INSIG1|INSIG1	154725451|154725451	1.000000|1.000000	0.71417|0.71417	0.973000|0.973000	0.42090|0.42090	0.983000|0.983000	0.72400|0.72400	9.451000|9.451000	0.97610|0.97610	2.579000|2.579000	0.87056|0.87056	0.650000|0.650000	0.86243|0.86243	GAG|GGA		0.408	INSIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322244.3	NM_198336		6	96	0	0	0	1	0	6	96				
FLRT3	23767	broad.mit.edu	37	20	14307317	14307317	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr20:14307317G>T	ENST00000378053.3	-	2	1092	c.836C>A	c.(835-837)tCc>tAc	p.S279Y	FLRT3_ENST00000341420.4_Missense_Mutation_p.S279Y|MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000462077.1_5'Flank|MACROD2_ENST00000217246.4_Intron	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	279					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		GTTATTATTGGACATATCCAG	0.413																																						ENST00000378053.3																			0				breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(835-837)tCc>tAc		fibronectin leucine rich transmembrane protein 3							50.0	52.0	51.0					20																	14307317		2203	4300	6503	SO:0001583	missense	23767				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr20:14307317G>T	AF169677	CCDS13121.1	20p11	2013-02-11			ENSG00000125848	ENSG00000125848		"""Fibronectin type III domain containing"""	3762	protein-coding gene	gene with protein product		604808				10644439	Standard	NM_198391		Approved		uc002wow.2	Q9NZU0	OTTHUMG00000031914	ENST00000378053.3:c.836C>A	20.37:g.14307317G>T	ENSP00000367292:p.Ser279Tyr					MACROD2_ENST00000310348.4_Intron|MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.S279Y	p.S279Y	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)	2	1092	-		Colorectal(1;0.0464)	279					D3DW20|Q542Z9|Q96K39|Q96K42|Q96KB1|Q9P259	Missense_Mutation	SNP	ENST00000378053.3	37	c.836C>A	CCDS13121.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.345922	0.61073	.	.	ENSG00000125848	ENST00000378053;ENST00000341420;ENST00000541882	T;T	0.63744	-0.06;-0.06	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	D	0.82861	0.5129	M	0.85041	2.73	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83879	0.0278	10	0.72032	D	0.01	-8.6217	20.5211	0.99222	0.0:0.0:1.0:0.0	.	279	Q9NZU0	FLRT3_HUMAN	Y	279	ENSP00000367292:S279Y;ENSP00000339912:S279Y	ENSP00000339912:S279Y	S	-	2	0	FLRT3	14255317	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.861000	0.98227	0.650000	0.86243	TCC		0.413	FLRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078075.1	NM_013281		24	34	1	0	9.90768e-06	1	1.06508e-05	24	34				
FRG1B	284802	broad.mit.edu	37	20	29625941	29625941	+	Missense_Mutation	SNP	A	A	T	rs558255572		TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr20:29625941A>T	ENST00000278882.3	+	5	565	c.185A>T	c.(184-186)gAt>gTt	p.D62V	FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V|FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	62								p.D62V(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGCATTCAGATGCAATTGGA	0.333													.|||	1	0.000199681	0.0	0.0014	5008	,	,		30607	0.0		0.0	False		,,,				2504	0.0					ENST00000278882.3																			2	Substitution - Missense(2)	p.D62V(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(184-186)gAt>gTt																																						SO:0001583	missense	0							g.chr20:29625941A>T			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.185A>T	20.37:g.29625941A>T	ENSP00000278882:p.Asp62Val					FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V|FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V	p.D62V							5	565	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.185A>T		.	.	.	.	.	.	.	.	.	.	a	11.46	1.644922	0.29246	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.55930	0.49	1.68	1.68	0.24146	.	0.000000	0.85682	U	0.000000	T	0.67316	0.2880	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.68300	-0.5445	9	0.87932	D	0	.	7.3757	0.26827	1.0:0.0:0.0:0.0	.	67	F5H5R5	.	V	62;67;62	ENSP00000408863:D67V	ENSP00000278882:D62V	D	+	2	0	FRG1B	28239602	1.000000	0.71417	1.000000	0.80357	0.050000	0.14768	7.682000	0.84083	1.028000	0.39785	0.155000	0.16302	GAT		0.333	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		7	91	0	0	0	1	0	7	91				
SCN4A	6329	broad.mit.edu	37	17	62049712	62049712	+	Splice_Site	SNP	G	G	A			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr17:62049712G>A	ENST00000435607.1	-	2	468	c.392C>T	c.(391-393)gCg>gTg	p.A131V	CTC-264K15.6_ENST00000577329.1_lincRNA|SCN4A_ENST00000578147.1_Splice_Site_p.A131V	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	131					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GGCAGGATATGCATGGATGAG	0.617																																						ENST00000578147.1																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101						c.e2+1		sodium channel, voltage-gated, type IV, alpha subunit	Lamotrigine(DB00555)						52.0	56.0	55.0					17																	62049712		2141	4250	6391	SO:0001630	splice_region_variant	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62049712G>A	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.392+1C>T	17.37:g.62049712G>A						SCN4A_ENST00000435607.1_Splice_Site_p.A131_splice	p.A131_splice			P35499	SCN4A_HUMAN			2	468	-			131					Q15478|Q16447|Q7Z6B1	Splice_Site	SNP	ENST00000435607.1	37	c.392_splice	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.663311	0.47572	.	.	ENSG00000007314	ENST00000435607	D	0.97404	-4.37	4.23	4.23	0.50019	.	4.299410	0.01381	U	0.012927	D	0.92538	0.7630	N	0.03608	-0.345	0.43043	D	0.994631	B	0.06786	0.001	B	0.12837	0.008	T	0.65183	-0.6230	9	.	.	.	.	15.7671	0.78135	0.0:0.0:1.0:0.0	.	131	P35499	SCN4A_HUMAN	V	131	ENSP00000396320:A131V	.	A	-	2	0	SCN4A	59403444	1.000000	0.71417	0.999000	0.59377	0.167000	0.22549	9.601000	0.98297	2.188000	0.69820	0.313000	0.20887	GCG		0.617	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334	Missense_Mutation	10	8	0	0	0	1	0	10	8				
SLCO1B1	10599	broad.mit.edu	37	12	21377736	21377736	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr12:21377736C>T	ENST00000256958.2	+	14	1924	c.1828C>T	c.(1828-1830)Cgt>Tgt	p.R610C		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	610					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	CTGTGGCACACGTGGGTCATG	0.338																																						ENST00000256958.2																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70						c.(1828-1830)Cgt>Tgt		solute carrier organic anion transporter family, member 1B1	Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)						146.0	139.0	142.0					12																	21377736		2203	4300	6503	SO:0001583	missense	10599				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	g.chr12:21377736C>T		CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.1828C>T	12.37:g.21377736C>T	ENSP00000256958:p.Arg610Cys						p.R610C	NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN			14	1924	+			610					B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	ENST00000256958.2	37	c.1828C>T	CCDS8685.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.102188	0.37048	.	.	ENSG00000134538	ENST00000256958	T	0.43688	0.94	3.66	0.352	0.16051	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.504191	0.20573	N	0.089697	T	0.62636	0.2444	M	0.86805	2.84	0.18873	N	0.999989	D	0.76494	0.999	D	0.67900	0.954	T	0.55617	-0.8113	10	0.87932	D	0	.	10.0055	0.41955	0.5235:0.4765:0.0:0.0	.	610	Q9Y6L6	SO1B1_HUMAN	C	610	ENSP00000256958:R610C	ENSP00000256958:R610C	R	+	1	0	SLCO1B1	21269003	0.000000	0.05858	0.001000	0.08648	0.084000	0.17831	0.152000	0.16302	0.202000	0.20498	-0.518000	0.04402	CGT		0.338	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446		16	97	0	0	0	1	0	16	97				
BCAR3	8412	broad.mit.edu	37	1	94032967	94032967	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr1:94032967G>A	ENST00000370244.1	-	13	2456	c.2168C>T	c.(2167-2169)aCt>aTt	p.T723I	BCAR3_ENST00000539242.1_Missense_Mutation_p.T399I|BCAR3_ENST00000370247.3_Missense_Mutation_p.T632I|BCAR3_ENST00000370243.1_Missense_Mutation_p.T723I|BCAR3_ENST00000260502.6_Missense_Mutation_p.T723I	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	723	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		TCCTTCAAAAGTCACAGCCTG	0.502																																						ENST00000370244.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25						c.(2167-2169)aCt>aTt		breast cancer anti-estrogen resistance 3							142.0	128.0	133.0					1																	94032967		2203	4300	6503	SO:0001583	missense	8412				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:94032967G>A	U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"""SH2 domain containing"""	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.2168C>T	1.37:g.94032967G>A	ENSP00000359264:p.Thr723Ile					BCAR3_ENST00000370243.1_Missense_Mutation_p.T723I|BCAR3_ENST00000539242.1_Missense_Mutation_p.T399I|BCAR3_ENST00000370247.3_Missense_Mutation_p.T632I|BCAR3_ENST00000260502.6_Missense_Mutation_p.T723I	p.T723I	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)	13	2456	-		all_lung(203;0.00145)|Lung NSC(277;0.00662)	723			Ras-GEF.		D3DT43|Q5TEW3|Q6UW40|Q9BR50	Missense_Mutation	SNP	ENST00000370244.1	37	c.2168C>T	CCDS745.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.943706	0.34283	.	.	ENSG00000137936	ENST00000370247;ENST00000260502;ENST00000370244;ENST00000370243;ENST00000539242	T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59	5.85	3.01	0.34805	Guanine-nucleotide dissociation stimulator CDC25 (2);Ras guanine nucleotide exchange factor, domain (1);	0.441828	0.27266	N	0.020152	T	0.05868	0.0153	N	0.17674	0.51	0.28398	N	0.918778	B;B	0.23854	0.092;0.015	B;B	0.20955	0.032;0.016	T	0.38329	-0.9666	10	0.21540	T	0.41	-24.1593	7.5338	0.27697	0.4417:0.0:0.5583:0.0	.	723;632	O75815;Q5TEW3	BCAR3_HUMAN;.	I	632;723;723;723;399	ENSP00000359267:T632I;ENSP00000260502:T723I;ENSP00000359264:T723I;ENSP00000359263:T723I;ENSP00000441343:T399I	ENSP00000260502:T723I	T	-	2	0	BCAR3	93805555	1.000000	0.71417	0.998000	0.56505	0.947000	0.59692	2.340000	0.43974	0.406000	0.25560	-0.122000	0.15005	ACT		0.502	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028420.1			27	22	0	0	0	1	0	27	22				
ARHGAP30	257106	broad.mit.edu	37	1	161019032	161019032	+	Silent	SNP	G	G	A	rs150907238	byFrequency	TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr1:161019032G>A	ENST00000368013.3	-	12	2099	c.1779C>T	c.(1777-1779)tcC>tcT	p.S593S	ARHGAP30_ENST00000368015.1_Silent_p.S416S|ARHGAP30_ENST00000368016.3_Silent_p.S593S	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	593					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TGGGGCCAGCGGAGTCCAGGG	0.572													G|||	4	0.000798722	0.0008	0.0014	5008	,	,		21367	0.001		0.001	False		,,,				2504	0.0					ENST00000368013.3																			0				breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1777-1779)tcC>tcT		Rho GTPase activating protein 30		G	,	7,4399	12.9+/-30.5	0,7,2196	97.0	103.0	101.0		1779,1779	-4.6	0.0	1	dbSNP_134	101	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ARHGAP30	NM_001025598.1,NM_181720.2	,	0,7,6496	AA,AG,GG		0.0,0.1589,0.0538	,	593/1102,593/891	161019032	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	257106				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr1:161019032G>A	AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"""Rho GTPase activating proteins"""	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.1779C>T	1.37:g.161019032G>A						ARHGAP30_ENST00000368015.1_Silent_p.S416S|ARHGAP30_ENST00000368016.3_Silent_p.S593S	p.S593S	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00122)		12	2099	-	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		593					Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Silent	SNP	ENST00000368013.3	37	c.1779C>T	CCDS30918.1																																																																																				0.572	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077090.2	NM_181720		23	50	0	0	0	1	0	23	50				
BMS1P20	96610	broad.mit.edu	37	22	22663087	22663087	+	RNA	SNP	A	A	G	rs1054158|rs71318762	byFrequency	TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr22:22663087A>G	ENST00000426066.1	+	0	526					NR_027293.1				BMS1 pseudogene 20																		GCTGCCACATAAGTTGTCCTT	0.303													.|||	3161	0.63119	0.9652	0.4726	5008	,	,		8984	0.4077		0.5219	False		,,,				2504	0.635					ENST00000426066.1																			0																																																			0							g.chr22:22663087A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22663087A>G								NR_027293.1						0	526	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.303	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	25	0	0	0	1	0	3	25				
ZNF878	729747	broad.mit.edu	37	19	12155757	12155757	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr19:12155757C>A	ENST00000547628.1	-	4	596	c.459G>T	c.(457-459)agG>agT	p.R153S	CTD-2006C1.2_ENST00000476474.1_RNA|ZNF878_ENST00000602107.1_Missense_Mutation_p.R200S|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	153					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AACTGGGAAACCTGAATGCTT	0.423																																						ENST00000602107.1																			0				cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(598-600)agG>agT		zinc finger protein 878							139.0	150.0	146.0					19																	12155757		2165	4283	6448	SO:0001583	missense	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12155757C>A		CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"""Zinc fingers, C2H2-type"", ""-"""	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.459G>T	19.37:g.12155757C>A	ENSP00000447931:p.Arg153Ser					CTD-2006C1.2_ENST00000591898.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.R153S|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA	p.R200S			C9JN71	ZN878_HUMAN			5	599	-			153						Missense_Mutation	SNP	ENST00000547628.1	37	c.600G>T	CCDS45984.2	.	.	.	.	.	.	.	.	.	.	c	0.119	-1.128634	0.01756	.	.	ENSG00000257446;ENSG00000232371	ENST00000547628;ENST00000440730	T	0.13901	2.55	1.25	-2.51	0.06365	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04588	0.0125	N	0.11427	0.14	0.09310	N	1	B	0.15141	0.012	B	0.18871	0.023	T	0.39840	-0.9594	9	0.02654	T	1	.	3.7988	0.08750	0.3827:0.4258:0.0:0.1915	.	153	C9JN71	ZN878_HUMAN	S	153;200	ENSP00000447931:R153S	ENSP00000447931:R153S	R	-	3	2	AC022415.4;ZNF878	12016757	0.000000	0.05858	0.001000	0.08648	0.669000	0.39330	-2.636000	0.00867	-1.408000	0.02040	0.299000	0.19835	AGG		0.423	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404		4	139	1	0	3.59834e-05	1	3.77386e-05	4	139				
PDXDC1	23042	broad.mit.edu	37	16	15122867	15122867	+	Intron	SNP	A	A	G	rs201314433	byFrequency	TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr16:15122867A>G	ENST00000396410.4	+	15	1390				PDXDC1_ENST00000447912.2_Intron|PDXDC1_ENST00000569715.1_Intron|PDXDC1_ENST00000455313.2_Missense_Mutation_p.H423R|PDXDC1_ENST00000563679.1_Intron|PDXDC1_ENST00000325823.7_Intron|PDXDC1_ENST00000535621.2_Intron|PDXDC1_ENST00000450288.2_Intron	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1						carboxylic acid metabolic process (GO:0019752)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GTCCCCGTCCATCACCATCCG	0.632													a|||	8	0.00159744	0.0008	0.0014	5008	,	,		28995	0.0		0.006	False		,,,				2504	0.0					ENST00000455313.2																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1267-1269)cAt>cGt		pyridoxal-dependent decarboxylase domain containing 1	Pyridoxal Phosphate(DB00114)	G		2,4392	2.1+/-5.4	0,2,2195	55.0	43.0	47.0			-1.5	0.0	16		47	33,8567	17.3+/-56.4	0,33,4267	no	intron	PDXDC1	NM_015027.2		0,35,6462	GG,GA,AA		0.3837,0.0455,0.2694			15122867	35,12959	2197	4300	6497	SO:0001627	intron_variant	23042				carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding	g.chr16:15122867A>G	AK025504, BX647809	CCDS32393.1, CCDS66954.1, CCDS66957.1, CCDS73830.1, CCDS73831.1	16p13.11	2008-02-05							28995	protein-coding gene	gene with protein product		614244					Standard	XM_005255173		Approved	KIAA0251	uc002dda.4	Q6P996	OTTHUMG00000166304	ENST00000396410.4:c.1293+44A>G	16.37:g.15122867A>G						PDXDC1_ENST00000535621.2_Intron|PDXDC1_ENST00000563679.1_Intron|PDXDC1_ENST00000447912.2_Intron|PDXDC1_ENST00000450288.2_Intron|PDXDC1_ENST00000396410.4_Intron|PDXDC1_ENST00000325823.7_Intron|PDXDC1_ENST00000569715.1_Intron	p.H423R			Q6P996	PDXD1_HUMAN			14	1388	+			0					B4DR55|B4DSL3|E7EMH5|E7EPL4|H3BNZ1|O00236|Q4F6X7|Q6PID7|Q86YF1|Q8N4Q9|Q8TBS5	Missense_Mutation	SNP	ENST00000396410.4	37	c.1268A>G	CCDS32393.1	6	0.0027472527472527475	0	0.0	1	0.0027624309392265192	0	0.0	5	0.006596306068601583	a	4.910	0.169079	0.09339	4.55E-4	0.003837	ENSG00000179889	ENST00000455313	T	0.22336	1.96	3.27	-1.53	0.08611	.	.	.	.	.	T	0.06005	0.0156	.	.	.	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.36016	-0.9765	7	.	.	.	.	0.5084	0.00591	0.3121:0.2431:0.2709:0.1739	.	423	Q6P996-2	.	R	423	ENSP00000406703:H423R	.	H	+	2	0	PDXDC1	15030368	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.830000	0.01699	-0.198000	0.10333	-0.360000	0.07572	CAT		0.632	PDXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389065.2	NM_015027		4	9	0	0	0	1	0	4	9				
CNGB1	1258	broad.mit.edu	37	16	57921842	57921842	+	Missense_Mutation	SNP	C	C	T	rs373477921		TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr16:57921842C>T	ENST00000251102.8	-	32	3439	c.3379G>A	c.(3379-3381)Ggc>Agc	p.G1127S	CNGB1_ENST00000564448.1_Missense_Mutation_p.G1121S	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	1127					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GCAAGTTTGCCGCCTTTTGCC	0.612																																					Colon(156;1293 1853 16336 28962 38659)	ENST00000564448.1																			0				breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						c.(3361-3363)Ggc>Agc		cyclic nucleotide gated channel beta 1		C	SER/GLY	0,3894		0,0,1947	93.0	98.0	97.0		3379	5.3	1.0	16		97	1,8277		0,1,4138	no	missense	CNGB1	NM_001297.4	56	0,1,6085	TT,TC,CC		0.0121,0.0,0.0082	probably-damaging	1127/1252	57921842	1,12171	1947	4139	6086	SO:0001583	missense	1258				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chr16:57921842C>T	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.3379G>A	16.37:g.57921842C>T	ENSP00000251102:p.Gly1127Ser					CNGB1_ENST00000251102.8_Missense_Mutation_p.G1127S	p.G1121S			Q14028	CNGB1_HUMAN			32	3421	-			1127					H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	ENST00000251102.8	37	c.3361G>A	CCDS42169.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.859370	0.51376	0.0	1.21E-4	ENSG00000070729	ENST00000251102	D	0.96830	-4.14	5.34	5.34	0.76211	.	0.169139	0.37053	N	0.002266	D	0.95297	0.8474	M	0.63428	1.95	0.80722	D	1	D;D	0.61697	0.99;0.983	P;P	0.50825	0.651;0.449	D	0.93224	0.6611	10	0.33940	T	0.23	.	7.1491	0.25599	0.1716:0.742:0.0:0.0864	.	499;1127	Q14028-2;Q14028	.;CNGB1_HUMAN	S	1127	ENSP00000251102:G1127S	ENSP00000251102:G1127S	G	-	1	0	CNGB1	56479343	0.967000	0.33354	1.000000	0.80357	0.132000	0.20833	2.271000	0.43364	2.503000	0.84419	0.467000	0.42956	GGC		0.612	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		29	50	0	0	0	1	0	29	50				
HP1BP3	50809	broad.mit.edu	37	1	21083722	21083722	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr1:21083722C>A	ENST00000312239.5	-	9	1057	c.918G>T	c.(916-918)caG>caT	p.Q306H	HP1BP3_ENST00000375003.2_Missense_Mutation_p.Q154H	NM_016287.3	NP_057371.2	Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	306	H15 2. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)	nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		CTACTGCTCTCTGCAGAGCGT	0.418																																						ENST00000375003.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16						c.(460-462)caG>caT		heterochromatin protein 1, binding protein 3							76.0	74.0	75.0					1																	21083722		2203	4300	6503	SO:0001583	missense	50809				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:21083722C>A	BC053327	CCDS30621.1	1p36.12	2008-02-05			ENSG00000127483	ENSG00000127483			24973	protein-coding gene	gene with protein product						12477932	Standard	NM_016287		Approved	HP1-BP74	uc001bdw.1	Q5SSJ5	OTTHUMG00000002622	ENST00000312239.5:c.918G>T	1.37:g.21083722C>A	ENSP00000312625:p.Gln306His					HP1BP3_ENST00000312239.5_Missense_Mutation_p.Q306H	p.Q154H			Q5SSJ5	HP1B3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)	5	1962	-		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	306					A6NI71|A8K5D7|B3KMZ8|B4E210|Q05BI0|Q5SSJ6|Q5SWC6|Q6PIM9|Q8NDF0|Q9UHY0	Missense_Mutation	SNP	ENST00000312239.5	37	c.462G>T	CCDS30621.1	.	.	.	.	.	.	.	.	.	.	C	13.77	2.334969	0.41398	.	.	ENSG00000127483	ENST00000312239;ENST00000375004;ENST00000375003;ENST00000419948;ENST00000438032;ENST00000424732	T;T;T;T;T	0.23348	1.96;1.96;1.96;1.96;1.91	5.87	4.01	0.46588	Histone H1/H5 (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.219820	0.47455	D	0.000228	T	0.21468	0.0517	L	0.33485	1.01	0.80722	D	1	B;B	0.13145	0.006;0.007	B;B	0.18871	0.012;0.023	T	0.03212	-1.1060	10	0.72032	D	0.01	-2.6577	12.6304	0.56655	0.0:0.8656:0.0:0.1344	.	268;306	Q5SSJ5-2;Q5SSJ5	.;HP1B3_HUMAN	H	306;268;154;165;306;268	ENSP00000312625:Q306H;ENSP00000364142:Q154H;ENSP00000391721:Q165H;ENSP00000403039:Q306H;ENSP00000402754:Q268H	ENSP00000312625:Q306H	Q	-	3	2	HP1BP3	20956309	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.800000	0.47900	0.831000	0.34780	0.585000	0.79938	CAG		0.418	HP1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007457.2	NM_016287		3	72	1	0	0.115264	1	0.115264	3	72				
NOX3	50508	broad.mit.edu	37	6	155757616	155757616	+	Missense_Mutation	SNP	C	C	T	rs527483156		TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr6:155757616C>T	ENST00000159060.2	-	7	836	c.734G>A	c.(733-735)cGc>cAc	p.R245H		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	245	Ferric oxidoreductase.				detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		TTCTGCATAGCGGTCTCTACA	0.443																																						ENST00000159060.2																			0				cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45						c.(733-735)cGc>cAc		NADPH oxidase 3							139.0	115.0	123.0					6																	155757616		2203	4300	6503	SO:0001583	missense	50508						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr6:155757616C>T	AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.734G>A	6.37:g.155757616C>T	ENSP00000159060:p.Arg245His						p.R245H	NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)	7	836	-		Breast(66;0.0183)	245			Ferric oxidoreductase.		Q9HBJ9	Missense_Mutation	SNP	ENST00000159060.2	37	c.734G>A	CCDS5250.1	.	.	.	.	.	.	.	.	.	.	C	0.063	-1.219960	0.01542	.	.	ENSG00000074771	ENST00000159060	D	0.95554	-3.74	5.56	-1.39	0.08997	.	0.450679	0.20645	N	0.088322	T	0.61677	0.2366	N	0.00436	-1.5	0.18873	N	0.999981	B	0.06786	0.001	B	0.01281	0.0	T	0.68519	-0.5387	10	0.14252	T	0.57	-3.5062	9.964	0.41712	0.0:0.356:0.0:0.644	.	245	Q9HBY0	NOX3_HUMAN	H	245	ENSP00000159060:R245H	ENSP00000159060:R245H	R	-	2	0	NOX3	155799308	0.055000	0.20627	0.006000	0.13384	0.211000	0.24417	-0.299000	0.08254	-0.411000	0.07530	-0.438000	0.05819	CGC		0.443	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1			25	33	0	0	0	1	0	25	33				
CACNA1D	776	broad.mit.edu	37	3	53785827	53785827	+	Missense_Mutation	SNP	C	C	G			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr3:53785827C>G	ENST00000350061.5	+	28	4079	c.3568C>G	c.(3568-3570)Ccc>Gcc	p.P1190A	CACNA1D_ENST00000540742.1_Missense_Mutation_p.P97A|CACNA1D_ENST00000288139.4_Missense_Mutation_p.P1210A|CACNA1D_ENST00000422281.2_Missense_Mutation_p.P1190A	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1190					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GAGATACATCCCCAAAAACCC	0.502																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(3628-3630)Ccc>Gcc		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)						236.0	202.0	213.0					3																	53785827		2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53785827C>G	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.3568C>G	3.37:g.53785827C>G	ENSP00000288133:p.Pro1190Ala					CACNA1D_ENST00000540742.1_Missense_Mutation_p.P97A|CACNA1D_ENST00000350061.5_Missense_Mutation_p.P1190A|CACNA1D_ENST00000422281.2_Missense_Mutation_p.P1190A	p.P1210A	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	29	3746	+			1190					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.3628C>G	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	C	31	5.067819	0.93950	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478;ENST00000540742	D;D;D;D;D	0.97906	-4.39;-4.44;-4.42;-4.4;-4.6	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.99257	0.9741	H	0.96080	3.765	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.97110	0.983;1.0;0.996;0.987;1.0	D	0.98871	1.0766	10	0.87932	D	0	.	20.3214	0.98679	0.0:1.0:0.0:0.0	.	1190;97;883;1190;1210	B0FYA3;F5H313;Q59GD8;Q01668;Q01668-2	.;.;.;CAC1D_HUMAN;.	A	1190;1210;1190;883;97	ENSP00000288133:P1190A;ENSP00000288139:P1210A;ENSP00000409174:P1190A;ENSP00000418014:P883A;ENSP00000438229:P97A	ENSP00000288139:P1210A	P	+	1	0	CACNA1D	53760867	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.804000	0.96469	0.655000	0.94253	CCC		0.502	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		5	137	0	0	0	1	0	5	137				
B4GALT5	9334	broad.mit.edu	37	20	48252911	48252911	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr20:48252911C>A	ENST00000371711.4	-	9	1292	c.1105G>T	c.(1105-1107)Gcc>Tcc	p.A369S		NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5	369					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			TTATACAAGGCGTCGTATGTG	0.493																																						ENST00000371711.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(1105-1107)Gcc>Tcc		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5							254.0	217.0	230.0					20																	48252911		2203	4300	6503	SO:0001583	missense	9334				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	galactosyltransferase activity|metal ion binding	g.chr20:48252911C>A	AB004550	CCDS13420.1	20q13.1-q13.2	2013-02-19			ENSG00000158470	ENSG00000158470		"""Beta 4-glycosyltransferases"""	928	protein-coding gene	gene with protein product	"""beta4-GalT IV"""	604016				9597550, 9435216	Standard	NM_004776		Approved	beta4GalT-V	uc002xuu.4	O43286	OTTHUMG00000033086	ENST00000371711.4:c.1105G>T	20.37:g.48252911C>A	ENSP00000360776:p.Ala369Ser						p.A369S	NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	BRCA - Breast invasive adenocarcinoma(9;2.51e-06)		9	1292	-			369					E1P625|Q2M394|Q9UJQ8	Missense_Mutation	SNP	ENST00000371711.4	37	c.1105G>T	CCDS13420.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.719652	0.48728	.	.	ENSG00000158470	ENST00000371711	T	0.34072	1.38	5.52	5.52	0.82312	.	0.144296	0.64402	D	0.000004	T	0.15089	0.0364	N	0.01235	-0.94	0.35169	D	0.771407	B	0.14805	0.011	B	0.09377	0.004	T	0.14476	-1.0471	10	0.48119	T	0.1	-26.11	12.7538	0.57323	0.0:0.9251:0.0:0.0749	.	369	O43286	B4GT5_HUMAN	S	369	ENSP00000360776:A369S	ENSP00000360776:A369S	A	-	1	0	B4GALT5	47686318	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.780000	0.38634	2.586000	0.87340	0.563000	0.77884	GCC		0.493	B4GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080543.3	NM_004776		12	41	1	0	3.07112e-06	1	3.3861e-06	12	41				
GPRASP2	114928	broad.mit.edu	37	X	101971615	101971615	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chrX:101971615C>A	ENST00000535209.1	+	4	2649	c.1818C>A	c.(1816-1818)gaC>gaA	p.D606E	GPRASP2_ENST00000332262.5_Missense_Mutation_p.D606E|GPRASP2_ENST00000543253.1_Missense_Mutation_p.D606E			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	606						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)			breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						TATTAATGGACAAAATTCGGG	0.393																																						ENST00000543253.1																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						c.(1816-1818)gaC>gaA		G protein-coupled receptor associated sorting protein 2							68.0	66.0	67.0					X																	101971615		2203	4300	6503	SO:0001583	missense	114928							g.chrX:101971615C>A	AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"""Armadillo repeat containing"""	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.1818C>A	X.37:g.101971615C>A	ENSP00000437394:p.Asp606Glu					GPRASP2_ENST00000535209.1_Missense_Mutation_p.D606E|GPRASP2_ENST00000332262.5_Missense_Mutation_p.D606E	p.D606E	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1					5	2737	+								D3DXA0|Q8NAB4	Missense_Mutation	SNP	ENST00000535209.1	37	c.1818C>A	CCDS14501.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.979756	0.00448	.	.	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	T;T;T	0.25912	1.77;1.77;1.77	4.33	-3.51	0.04696	.	0.410761	0.20845	N	0.084625	T	0.08582	0.0213	N	0.17379	0.485	0.09310	N	1	B	0.25048	0.117	B	0.28011	0.085	T	0.32719	-0.9896	10	0.06625	T	0.88	.	0.5301	0.00627	0.3924:0.2157:0.1273:0.2647	.	606	Q96D09	GASP2_HUMAN	E	606	ENSP00000437872:D606E;ENSP00000437394:D606E;ENSP00000339057:D606E	ENSP00000339057:D606E	D	+	3	2	GPRASP2	101858271	0.345000	0.24835	0.006000	0.13384	0.015000	0.08874	-0.509000	0.06336	-1.053000	0.03218	-1.028000	0.02416	GAC		0.393	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	NM_138437		19	5	1	0	5.35267e-07	1	6.05696e-07	19	5				
ITGAE	3682	broad.mit.edu	37	17	3653658	3653658	+	Missense_Mutation	SNP	G	G	A	rs147766404		TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr17:3653658G>A	ENST00000263087.4	-	16	2110	c.2012C>T	c.(2011-2013)gCg>gTg	p.A671V		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	671					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		GAACACAACCGCCTGGCCCAG	0.592																																					NSCLC(182;635 2928 8995 38788)	ENST00000263087.4																			0				NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(2011-2013)gCg>gTg		integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)		G	VAL/ALA	0,4406		0,0,2203	61.0	64.0	63.0		2012	4.3	0.8	17	dbSNP_134	63	1,8599	1.2+/-3.3	0,1,4299	no	missense	ITGAE	NM_002208.4	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	671/1180	3653658	1,13005	2203	4300	6503	SO:0001583	missense	3682				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr17:3653658G>A	L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"""CD molecules"", ""Integrins"""	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.2012C>T	17.37:g.3653658G>A	ENSP00000263087:p.Ala671Val						p.A671V	NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)	16	2110	-			671					Q17RS6|Q9NZU9	Missense_Mutation	SNP	ENST00000263087.4	37	c.2012C>T	CCDS32531.1	.	.	.	.	.	.	.	.	.	.	G	0.031	-1.333922	0.01298	0.0	1.16E-4	ENSG00000083457	ENST00000263087	T	0.67171	-0.25	4.31	4.31	0.51392	.	.	.	.	.	T	0.46386	0.1390	L	0.42008	1.315	0.25566	N	0.986941	P	0.44429	0.835	B	0.32805	0.153	T	0.46707	-0.9172	9	0.02654	T	1	.	8.5685	0.33554	0.1089:0.0:0.8911:0.0	.	671	P38570	ITAE_HUMAN	V	671	ENSP00000263087:A671V	ENSP00000263087:A671V	A	-	2	0	ITGAE	3600407	0.942000	0.31987	0.765000	0.31456	0.035000	0.12851	2.696000	0.47052	2.136000	0.66102	0.485000	0.47835	GCG		0.592	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1	NM_002208		10	7	0	0	0	1	0	10	7				
RP11-649A16.1	0	broad.mit.edu	37	3	146995077	146995077	+	RNA	DEL	A	A	-			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr3:146995077delA	ENST00000473299.1	-	0	132																											TCTGGACTGtaaaaaaaaaaa	0.294																																						ENST00000473299.1																			0																																																			0							g.chr3:146995077delA																													3.37:g.146995077delA														0	132	-									RNA	DEL	ENST00000473299.1	37																																																																																						0.294	RP11-649A16.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000355522.1			5	4						5	4	---	---	---	---
WWC2	80014	broad.mit.edu	37	4	184201996	184201998	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr4:184201996_184201998delAAG	ENST00000403733.3	+	17	2829_2831	c.2630_2632delAAG	c.(2629-2634)caagaa>caa	p.E882del	WWC2_ENST00000448232.2_In_Frame_Del_p.E882del|WWC2_ENST00000508747.1_5'Flank|WWC2_ENST00000513834.1_In_Frame_Del_p.E833del|WWC2_ENST00000504005.1_In_Frame_Del_p.E564del	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	882					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		gaattagcacaagaagaagaaga	0.424																																						ENST00000403733.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32						c.(2629-2634)caa>c		WW and C2 domain containing 2																																				SO:0001651	inframe_deletion	80014							g.chr4:184201996_184201998delAAG	BC017957	CCDS34109.2	4q35.1	2010-08-05	2006-11-09		ENSG00000151718	ENSG00000151718		"""WW, C2 and coiled-coil domain containing"""	24148	protein-coding gene	gene with protein product			"""WW, C2 and coiled-coil domain containing 2"""			12477932	Standard	NM_024949		Approved	BOMB, FLJ22029	uc010irx.3	Q6AWC2	OTTHUMG00000150685	ENST00000403733.3:c.2630_2632delAAG	4.37:g.184202005_184202007delAAG	ENSP00000384222:p.Glu882del					WWC2_ENST00000513834.1_In_Frame_Del_p.QE828del|WWC2_ENST00000448232.2_In_Frame_Del_p.QE877del|WWC2_ENST00000504005.1_In_Frame_Del_p.QE559del	p.QE877del	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)	17	2829_2831	+		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)	877					Q32Q84|Q69YQ1|Q6AWB8|Q6ZSY9|Q6ZU09|Q7Z620|Q8TEB8|Q9H6P0	In_Frame_Del	DEL	ENST00000403733.3	37	c.2630_2632delAAG	CCDS34109.2																																																																																				0.424	WWC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319608.1	NM_024949		2	4						2	4	---	---	---	---
KRT17P2	339241	broad.mit.edu	37	17	18334177	18334177	+	RNA	DEL	T	T	-			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr17:18334177delT	ENST00000326333.8	+	0	1174				KRT16P1_ENST00000581027.1_RNA					keratin 17 pseudogene 2																		TTCCTCTCTGTTTTTTTTTTC	0.572																																						ENST00000580052.1																			0																																																			0							g.chr17:18334177delT			17p11.2	2013-06-25			ENSG00000186831	ENSG00000186831			6429	pseudogene	pseudogene						1281771	Standard	NG_002778		Approved				OTTHUMG00000059248		17.37:g.18334177delT														0	43	+									RNA	DEL	ENST00000326333.8	37																																																																																						0.572	KRT17P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000446573.1	NG_002778		2	4						2	4	---	---	---	---
