#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
GGNBP2	79893	broad.mit.edu	37	17	34945780	34945780	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr17:34945780G>A	ENST00000304718.4	+	14	2349	c.2033G>A	c.(2032-2034)cGg>cAg	p.R678Q	DHRS11_ENST00000251312.5_5'Flank|DHRS11_ENST00000590554.1_5'Flank	NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	678					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		AAATACTGCCGGTTAAATGAT	0.373																																						ENST00000304718.4																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38						c.(2032-2034)cGg>cAg		gametogenetin binding protein 2							106.0	118.0	114.0					17																	34945780		2203	4300	6503	SO:0001583	missense	79893				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle		g.chr17:34945780G>A	AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311			19357	protein-coding gene	gene with protein product		612275	"""zinc finger protein 403"""	ZNF403		11728448	Standard	NM_024835		Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	ENST00000304718.4:c.2033G>A	17.37:g.34945780G>A	ENSP00000307617:p.Arg678Gln						p.R678Q	NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	14	2349	+		Breast(25;0.00957)|Ovarian(249;0.17)	678					B2RPK7|Q96T90|Q9GZR8|Q9H767	Missense_Mutation	SNP	ENST00000304718.4	37	c.2033G>A	CCDS11314.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.694969	0.88830	.	.	ENSG00000005955	ENST00000304718	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.62245	0.2412	N	0.14661	0.345	0.80722	D	1	D	0.69078	0.997	D	0.69479	0.964	T	0.66200	-0.5983	9	0.54805	T	0.06	-9.1595	18.3581	0.90365	0.0:0.0:1.0:0.0	.	678	Q9H3C7	GGNB2_HUMAN	Q	678	.	ENSP00000307617:R678Q	R	+	2	0	GGNBP2	32019893	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.867000	0.75511	2.771000	0.95319	0.561000	0.74099	CGG		0.373	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256684.2	NM_024835		55	129	0	0	0	0.000781405	0	55	129				
NR3C1	2908	broad.mit.edu	37	5	142675046	142675046	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr5:142675046T>G	ENST00000343796.2	-	7	2995	c.2002A>C	c.(2002-2004)Acc>Ccc	p.T668P	NR3C1_ENST00000394466.2_Missense_Mutation_p.T669P|NR3C1_ENST00000231509.3_Missense_Mutation_p.T669P|NR3C1_ENST00000424646.2_Missense_Mutation_p.T642P|NR3C1_ENST00000503201.1_Missense_Mutation_p.T668P|NR3C1_ENST00000416954.2_Missense_Mutation_p.T271P|NR3C1_ENST00000504572.1_Missense_Mutation_p.T669P|NR3C1_ENST00000415690.2_Missense_Mutation_p.T668P|NR3C1_ENST00000394464.2_Missense_Mutation_p.T668P	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	668	Interaction with CLOCK.|Interaction with CRY1.|Steroid-binding.				adrenal gland development (GO:0030325)|chromatin modification (GO:0016568)|gene expression (GO:0010467)|glucocorticoid metabolic process (GO:0008211)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of glucocorticoid mediated signaling pathway (GO:1900170)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucocorticoid biosynthetic process (GO:0031946)|regulation of gluconeogenesis (GO:0006111)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	glucocorticoid receptor activity (GO:0004883)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|zinc ion binding (GO:0008270)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Budesonide(DB01222)|Ciclesonide(DB01410)|Clobetasol propionate(DB01013)|Clocortolone(DB00838)|Cortisone acetate(DB01380)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Difluprednate(DB06781)|Fludrocortisone(DB00687)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Fluoxymesterone(DB01185)|Flurandrenolide(DB00846)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol(DB00873)|Medrysone(DB00253)|Megestrol acetate(DB00351)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Paramethasone(DB01384)|Prednicarbate(DB01130)|Prednisolone(DB00860)|Prednisone(DB00635)|Rimexolone(DB00896)|Spironolactone(DB00421)|Triamcinolone(DB00620)	AGCAGTAAGGTTTTCATACAG	0.378																																						ENST00000343796.2																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35						c.(2002-2004)Acc>Ccc		nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)						139.0	121.0	127.0					5																	142675046		2203	4300	6503	SO:0001583	missense	2908				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	g.chr5:142675046T>G	X03225	CCDS4278.1, CCDS34258.1, CCDS47298.1	5q31-q32	2013-01-16	2002-08-27		ENSG00000113580	ENSG00000113580		"""Nuclear hormone receptors"""	7978	protein-coding gene	gene with protein product		138040	"""nuclear receptor subfamily 3, group C, member 1"""	GRL		2867473	Standard	NM_001204258		Approved	GR	uc003lnb.3	P04150	OTTHUMG00000129677	ENST00000343796.2:c.2002A>C	5.37:g.142675046T>G	ENSP00000343205:p.Thr668Pro					NR3C1_ENST00000416954.2_Missense_Mutation_p.T271P|NR3C1_ENST00000394466.2_Missense_Mutation_p.T669P|NR3C1_ENST00000231509.3_Missense_Mutation_p.T669P|NR3C1_ENST00000424646.2_Missense_Mutation_p.T642P|NR3C1_ENST00000394464.2_Missense_Mutation_p.T668P|NR3C1_ENST00000503201.1_Missense_Mutation_p.T668P|NR3C1_ENST00000504572.1_Missense_Mutation_p.T669P|NR3C1_ENST00000415690.2_Missense_Mutation_p.T668P	p.T668P	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		7	2995	-		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	668			Steroid-binding.		A0ZXF9|B0LPG8|D3DQF4|P04151|Q53EP5|Q6N0A4	Missense_Mutation	SNP	ENST00000343796.2	37	c.2002A>C	CCDS4278.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.277095	0.80580	.	.	ENSG00000113580	ENST00000394464;ENST00000343796;ENST00000415690;ENST00000424646;ENST00000504572;ENST00000394466;ENST00000231509;ENST00000416954;ENST00000503201	D;D;T;D;D;D;D;D;D	0.96619	-4.07;-4.07;1.28;-4.07;-4.07;-4.07;-4.07;-4.07;-4.07	5.63	5.63	0.86233	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.135180	0.56097	D	0.000022	D	0.96056	0.8715	L	0.29908	0.895	0.45139	D	0.998155	D;D;D	0.76494	0.991;0.999;0.997	D;D;D	0.75484	0.972;0.986;0.962	D	0.95933	0.8940	10	0.66056	D	0.02	.	10.2177	0.43179	0.0:0.074:0.0:0.926	.	668;668;669	E5KQF5;P04150;E5KQF6	.;GCR_HUMAN;.	P	668;668;668;642;669;669;669;271;668	ENSP00000377977:T668P;ENSP00000343205:T668P;ENSP00000387672:T668P;ENSP00000405282:T642P;ENSP00000422518:T669P;ENSP00000377979:T669P;ENSP00000231509:T669P;ENSP00000404218:T271P;ENSP00000427672:T668P	ENSP00000231509:T669P	T	-	1	0	NR3C1	142655239	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.388000	0.59633	2.140000	0.66376	0.477000	0.44152	ACC		0.378	NR3C1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370829.1			9	38	0	0	0	0.000274275	0	9	38				
SERPINI2	5276	broad.mit.edu	37	3	167183380	167183380	+	Missense_Mutation	SNP	C	C	A	rs199872504		TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr3:167183380C>A	ENST00000476257.1	-	5	858	c.560G>T	c.(559-561)gGa>gTa	p.G187V	SERPINI2_ENST00000461846.1_Missense_Mutation_p.G187V|SERPINI2_ENST00000471111.1_Missense_Mutation_p.G187V|SERPINI2_ENST00000264677.4_Missense_Mutation_p.G187V			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	187					cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						TTTCCAATCTCCTTTGAAATA	0.388																																						ENST00000476257.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						c.(559-561)gGa>gTa		serpin peptidase inhibitor, clade I (pancpin), member 2							66.0	65.0	65.0					3																	167183380		2203	4300	6503	SO:0001583	missense	5276				cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:167183380C>A	AB006423	CCDS3200.1, CCDS75047.1	3q26.1	2014-02-18	2005-08-18		ENSG00000114204	ENSG00000114204		"""Serine (or cysteine) peptidase inhibitors"""	8945	protein-coding gene	gene with protein product		605587	"""serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 2"", ""serine (or cysteine) proteinase inhibitor, clade I (pancpin), member 2"""	PI14		9624529, 24172014	Standard	NM_006217		Approved	PANCPIN, TSA2004, MEPI, pancpin	uc003fes.2	O75830	OTTHUMG00000158231	ENST00000476257.1:c.560G>T	3.37:g.167183380C>A	ENSP00000420621:p.Gly187Val					SERPINI2_ENST00000471111.1_Missense_Mutation_p.G187V|SERPINI2_ENST00000461846.1_Missense_Mutation_p.G187V|SERPINI2_ENST00000264677.4_Missense_Mutation_p.G187V	p.G187V			O75830	SPI2_HUMAN			5	858	-			187						Missense_Mutation	SNP	ENST00000476257.1	37	c.560G>T	CCDS3200.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.300009	0.81136	.	.	ENSG00000114204	ENST00000476257;ENST00000461846;ENST00000264677;ENST00000471111;ENST00000466903	D;D;D;D;D	0.91843	-2.92;-2.92;-2.92;-2.92;-2.92	5.74	5.74	0.90152	Serpin domain (3);	0.105513	0.64402	D	0.000004	D	0.97688	0.9242	H	0.97491	4.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98773	1.0729	10	0.87932	D	0	.	17.4314	0.87540	0.0:1.0:0.0:0.0	.	187;187	B4DDY9;O75830	.;SPI2_HUMAN	V	187	ENSP00000420621:G187V;ENSP00000417692:G187V;ENSP00000264677:G187V;ENSP00000419407:G187V;ENSP00000417752:G187V	ENSP00000264677:G187V	G	-	2	0	SERPINI2	168666074	0.997000	0.39634	0.974000	0.42286	0.975000	0.68041	4.187000	0.58344	2.719000	0.93026	0.655000	0.94253	GGA		0.388	SERPINI2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350450.1	NM_006217		15	35	1	0	3.27435e-08	0.00244969	1.69781e-07	15	35				
STAMBPL1	57559	broad.mit.edu	37	10	90665316	90665316	+	Silent	SNP	A	A	G			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr10:90665316A>G	ENST00000371926.3	+	3	1105	c.147A>G	c.(145-147)cgA>cgG	p.R49R	STAMBPL1_ENST00000371927.3_Silent_p.R49R|STAMBPL1_ENST00000371924.1_Silent_p.R49R	NM_020799.3	NP_065850.1	Q96FJ0	STALP_HUMAN	STAM binding protein-like 1	49						membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		TCACTCCACGACGTTACTTTA	0.423																																						ENST00000371927.3																			0				breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11						c.(145-147)cgA>cgG		STAM binding protein-like 1							149.0	138.0	141.0					10																	90665316		2203	4300	6503	SO:0001819	synonymous_variant	57559						metal ion binding|metallopeptidase activity|protein binding	g.chr10:90665316A>G	AB037794	CCDS7391.1	10q23.32	2006-11-08			ENSG00000138134	ENSG00000138134			24105	protein-coding gene	gene with protein product	"""associated molecule with the SH3 domain of STAM (AMSH) like protein"", ""associated molecule with the SH3 domain of STAM (AMSH) - Family Protein"""	612352				12810066, 12943674	Standard	NM_020799		Approved	AMSH-LP, KIAA1373, AMSH-FP, FLJ31524, ALMalpha, bA399O19.2	uc001kfk.4	Q96FJ0	OTTHUMG00000018702	ENST00000371926.3:c.147A>G	10.37:g.90665316A>G						STAMBPL1_ENST00000371924.1_Silent_p.R49R|STAMBPL1_ENST00000371926.3_Silent_p.R49R	p.R49R			Q96FJ0	STALP_HUMAN		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)	3	1105	+		Colorectal(252;0.0381)	49					B3KPA7|Q5T9N4|Q5T9N9|Q7Z420|Q9P2H4	Silent	SNP	ENST00000371926.3	37	c.147A>G	CCDS7391.1																																																																																				0.423	STAMBPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049283.1	NM_020799		27	58	0	0	0	0.000878237	0	27	58				
MMS19	64210	broad.mit.edu	37	10	99228076	99228076	+	Missense_Mutation	SNP	C	C	T	rs533058221		TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr10:99228076C>T	ENST00000438925.2	-	13	1486	c.1151G>A	c.(1150-1152)cGg>cAg	p.R384Q	MMS19_ENST00000370782.2_Missense_Mutation_p.R384Q|MMS19_ENST00000327238.10_Intron|MMS19_ENST00000483626.1_5'Flank|MMS19_ENST00000355839.6_Missense_Mutation_p.R341Q|MMS19_ENST00000327277.7_Missense_Mutation_p.R20Q	NM_022362.4	NP_071757.4	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog (S. cerevisiae)	384					cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|iron-sulfur cluster assembly (GO:0016226)|nucleotide-excision repair (GO:0006289)|phosphorelay signal transduction system (GO:0000160)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CIA complex (GO:0097361)|cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|membrane (GO:0016020)|MMXD complex (GO:0071817)|nucleus (GO:0005634)|spindle (GO:0005819)	estrogen receptor binding (GO:0030331)|protein binding, bridging (GO:0030674)|receptor signaling complex scaffold activity (GO:0030159)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)		GTCACAGGCCCGGGCAGATGC	0.552								Direct reversal of damage					C|||	1	0.000199681	0.0008	0.0	5008	,	,		19901	0.0		0.0	False		,,,				2504	0.0					ENST00000438925.2																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16						c.(1150-1152)cGg>cAg	Direct reversal of damage	MMS19 nucleotide excision repair homolog (S. cerevisiae)							81.0	69.0	73.0					10																	99228076		2203	4300	6503	SO:0001583	missense	64210				chromosome segregation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent|two-component signal transduction system (phosphorelay)	cytoplasm|holo TFIIH complex|MMXD complex	estrogen receptor binding|protein binding, bridging|receptor signaling complex scaffold activity|transcription coactivator activity	g.chr10:99228076C>T	AF007151	CCDS7464.1, CCDS73177.1	10q24-q25	2007-08-15	2007-08-15	2007-08-15	ENSG00000155229	ENSG00000155229			13824	protein-coding gene	gene with protein product	"""MET18 homolog (S. cerevisiae)"""	614777		MMS19L		11071939	Standard	NM_022362		Approved	MET18, hMMS19	uc001kns.4	Q96T76	OTTHUMG00000018857	ENST00000438925.2:c.1151G>A	10.37:g.99228076C>T	ENSP00000412698:p.Arg384Gln					MMS19_ENST00000327238.10_Intron|MMS19_ENST00000370782.2_Missense_Mutation_p.R384Q|MMS19_ENST00000327277.7_Missense_Mutation_p.R20Q|MMS19_ENST00000355839.6_Missense_Mutation_p.R341Q	p.R384Q	NM_022362.4	NP_071757.4	Q96T76	MMS19_HUMAN		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)	13	1486	-		Colorectal(252;0.0846)	384					B0QZ75|B3KPE5|B4DQX2|B4E2I3|D3DR55|F8W9Y2|Q17RZ8|Q5T455|Q66K82|Q7L4W8|Q969Z1|Q96DF1|Q96MR1|Q96RK5|Q96SK1|Q9BUE2|Q9BYS9	Missense_Mutation	SNP	ENST00000438925.2	37	c.1151G>A	CCDS7464.1	.	.	.	.	.	.	.	.	.	.	C	33	5.284218	0.95517	.	.	ENSG00000155229	ENST00000438925;ENST00000370782;ENST00000422291;ENST00000327277;ENST00000355839	T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09	5.12	5.12	0.69794	Armadillo-like helical (1);Armadillo-type fold (1);	0.062948	0.64402	D	0.000003	T	0.74007	0.3660	L	0.57536	1.79	0.58432	D	0.999999	D;D;P	0.89917	1.0;1.0;0.47	P;P;B	0.62649	0.903;0.905;0.048	T	0.69661	-0.5085	10	0.27785	T	0.31	.	18.74	0.91770	0.0:1.0:0.0:0.0	.	405;384;341	B4DQX2;Q96T76;B4E2I3	.;MMS19_HUMAN;.	Q	384;384;363;20;341	ENSP00000412698:R384Q;ENSP00000359818:R384Q;ENSP00000322236:R20Q;ENSP00000348097:R341Q	ENSP00000322236:R20Q	R	-	2	0	MMS19	99218066	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.549000	0.82163	2.665000	0.90641	0.563000	0.77884	CGG		0.552	MMS19-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049706.2			22	74	0	0	0	0.00152264	0	22	74				
ADAMTS12	81792	broad.mit.edu	37	5	33576387	33576387	+	Silent	SNP	C	C	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr5:33576387C>A	ENST00000504830.1	-	19	4079	c.3744G>T	c.(3742-3744)ctG>ctT	p.L1248L	ADAMTS12_ENST00000504582.1_5'Flank|ADAMTS12_ENST00000352040.3_Silent_p.L1163L	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1248	Spacer 2.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.L1248L(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CCAGAGGGAGCAGAGTGTTGG	0.522										HNSCC(64;0.19)																												ENST00000504830.1																			1	Substitution - coding silent(1)	p.L1248L(1)	lung(1)	NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						c.(3742-3744)ctG>ctT		ADAM metallopeptidase with thrombospondin type 1 motif, 12							149.0	149.0	149.0					5																	33576387		2203	4300	6503	SO:0001819	synonymous_variant	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33576387C>A	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.3744G>T	5.37:g.33576387C>A		HNSCC(64;0.19)				ADAMTS12_ENST00000352040.3_Silent_p.L1163L	p.L1248L	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN			19	4079	-			1248			Spacer 2.		A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	ENST00000504830.1	37	c.3744G>T	CCDS34140.1																																																																																				0.522	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		56	177	1	0	1.46156e-29	0.000781405	8.67025e-29	56	177				
ZNF791	163049	broad.mit.edu	37	19	12734543	12734543	+	Silent	SNP	G	G	C			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr19:12734543G>C	ENST00000343325.4	+	2	195	c.33G>C	c.(31-33)gtG>gtC	p.V11V	ZNF791_ENST00000540038.1_Intron|ZNF791_ENST00000446165.1_Silent_p.V11V|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000458122.3_5'UTR	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	11	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						ATGTGTCTGTGAGCTTCAGCC	0.443																																						ENST00000343325.4																			0				endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						c.(31-33)gtG>gtC		zinc finger protein 791							122.0	121.0	121.0					19																	12734543		2203	4300	6503	SO:0001819	synonymous_variant	163049				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12734543G>C	AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875		"""Zinc fingers, C2H2-type"", ""-"""	26895	protein-coding gene	gene with protein product							Standard	NM_153358		Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000343325.4:c.33G>C	19.37:g.12734543G>C						ZNF791_ENST00000446165.1_Silent_p.V11V|ZNF791_ENST00000458122.3_5'UTR|ZNF791_ENST00000540038.1_Intron|ZNF490_ENST00000465656.1_Intron	p.V11V	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN			2	195	+			11			KRAB.		B7Z586|Q8NC99	Silent	SNP	ENST00000343325.4	37	c.33G>C	CCDS12273.1																																																																																				0.443	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344140.1	NM_153358		4	132	0	0	0	0.00024832	0	4	132				
MBTPS1	8720	broad.mit.edu	37	16	84088086	84088086	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr16:84088086G>T	ENST00000343411.3	-	23	3622	c.3127C>A	c.(3127-3129)Cag>Aag	p.Q1043K		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	1043	Arg/Lys/Pro-rich (basic).				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GGGTGAACCTGCTGCATGAGC	0.642																																						ENST00000343411.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(3127-3129)Cag>Aag		membrane-bound transcription factor peptidase, site 1							45.0	43.0	44.0					16																	84088086		2200	4300	6500	SO:0001583	missense	8720				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity	g.chr16:84088086G>T	D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"""membrane-bound transcription factor protease, site 1"""			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.3127C>A	16.37:g.84088086G>T	ENSP00000344223:p.Gln1043Lys						p.Q1043K	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN			23	3622	-			1043			Arg/Lys/Pro-rich (basic).		A8K6V8|Q24JQ2|Q9UF67	Missense_Mutation	SNP	ENST00000343411.3	37	c.3127C>A	CCDS10941.1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.611800	0.66558	.	.	ENSG00000140943	ENST00000343411;ENST00000347334	T	0.29142	1.58	5.91	5.91	0.95273	.	0.575014	0.18296	N	0.145580	T	0.38772	0.1053	N	0.14661	0.345	0.80722	D	1	P	0.40332	0.713	P	0.54815	0.761	T	0.23940	-1.0174	10	0.46703	T	0.11	-20.8218	20.2985	0.98592	0.0:0.0:1.0:0.0	.	1043	Q14703	MBTP1_HUMAN	K	1043;488	ENSP00000344223:Q1043K	ENSP00000344223:Q1043K	Q	-	1	0	MBTPS1	82645587	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	9.224000	0.95209	2.793000	0.96121	0.655000	0.94253	CAG		0.642	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791		7	26	1	0	0.000274275	0.000274275	0.00137138	7	26				
PCDHGB6	56100	broad.mit.edu	37	5	140789785	140789785	+	Silent	SNP	G	G	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr5:140789785G>A	ENST00000520790.1	+	1	2016	c.2016G>A	c.(2014-2016)ctG>ctA	p.L672L	PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA10_ENST00000398610.2_5'Flank|PCDHGA9_ENST00000573521.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	672	Cadherin 6. {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(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGAGATACTGCCAGACCTCA	0.607																																						ENST00000520790.1																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48						c.(2014-2016)ctG>ctA									86.0	94.0	91.0					5																	140789785		2118	4240	6358	SO:0001819	synonymous_variant	56100							g.chr5:140789785G>A	AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"""Cadherins / Protocadherins : Clustered"""	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.2016G>A	5.37:g.140789785G>A						PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron	p.L672L	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2016	+								Q9Y5C5	Silent	SNP	ENST00000520790.1	37	c.2016G>A	CCDS54929.1																																																																																				0.607	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1	NM_018926		66	54	0	0	0	0.000781405	0	66	54				
BPTF	2186	broad.mit.edu	37	17	65914934	65914934	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr17:65914934G>T	ENST00000321892.4	+	14	5847	c.5786G>T	c.(5785-5787)gGa>gTa	p.G1929V	BPTF_ENST00000424123.3_Missense_Mutation_p.G1790V|BPTF_ENST00000306378.6_Missense_Mutation_p.G1803V|BPTF_ENST00000335221.5_Missense_Mutation_p.G1929V			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1929					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GCTCCTCCAGGAGGAGGGACT	0.493																																						ENST00000321892.4																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(5785-5787)gGa>gTa		bromodomain PHD finger transcription factor							123.0	118.0	120.0					17																	65914934		2203	4300	6503	SO:0001583	missense	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65914934G>T	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.5786G>T	17.37:g.65914934G>T	ENSP00000315454:p.Gly1929Val					BPTF_ENST00000306378.6_Missense_Mutation_p.G1803V|BPTF_ENST00000335221.5_Missense_Mutation_p.G1929V|BPTF_ENST00000424123.3_Missense_Mutation_p.G1790V	p.G1929V			Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		14	5847	+	all_cancers(12;6e-11)		1929					Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37	c.5786G>T		.	.	.	.	.	.	.	.	.	.	G	15.21	2.765067	0.49574	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	T;T;T	0.15256	2.44;2.44;2.44	5.53	5.53	0.82687	.	.	.	.	.	T	0.36580	0.0972	L	0.41236	1.265	0.80722	D	1	D;D	0.89917	0.971;1.0	P;D	0.97110	0.908;1.0	T	0.05289	-1.0894	9	0.72032	D	0.01	-12.6722	19.5221	0.95189	0.0:0.0:1.0:0.0	.	1803;1929	Q12830-2;Q12830-4	.;.	V	1803;1929;1929	ENSP00000307208:G1803V;ENSP00000334351:G1929V;ENSP00000315454:G1929V	ENSP00000307208:G1803V	G	+	2	0	BPTF	63345396	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	4.686000	0.61700	2.610000	0.88304	0.650000	0.86243	GGA		0.493	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		33	73	1	0	8.16721e-17	0.00209593	4.6861e-16	33	73				
EIF3L	51386	broad.mit.edu	37	22	38258977	38258977	+	Splice_Site	SNP	G	G	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr22:38258977G>A	ENST00000412331.2	+	6	1019	c.437G>A	c.(436-438)gGg>gAg	p.G146E	EIF3L_ENST00000476955.1_Intron|EIF3L_ENST00000406934.1_Splice_Site_p.G48E|EIF3L_ENST00000381683.6_Intron	NM_016091.3	NP_057175.1			eukaryotic translation initiation factor 3, subunit L											kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TCTTTACAGGGGGGACCTTCC	0.383																																						ENST00000412331.2																			0				kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.e6-1		eukaryotic translation initiation factor 3, subunit L							87.0	88.0	87.0					22																	38258977		2203	4300	6503	SO:0001630	splice_region_variant	51386					eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr22:38258977G>A	AF083243	CCDS13960.1, CCDS56230.1	22q	2012-12-20	2009-01-07	2009-01-07	ENSG00000100129	ENSG00000100129			18138	protein-coding gene	gene with protein product			"""eukaryotic translation initiation factor 3, subunit 6 interacting protein"", ""eukaryotic translation initiation factor 3, subunit E interacting protein"""	EIF3S6IP, EIF3EIP		11042152, 11590142	Standard	NM_016091		Approved	HSPC021, HSPC025, EIF3S11	uc003auf.3	Q9Y262	OTTHUMG00000150671	ENST00000412331.2:c.436-1G>A	22.37:g.38258977G>A						EIF3L_ENST00000476955.1_Intron|EIF3L_ENST00000381683.6_Intron|EIF3L_ENST00000406934.1_Splice_Site_p.G48_splice	p.G146_splice	NM_016091.3	NP_057175.1	Q9Y262	EIF3L_HUMAN			6	1019	+			146						Splice_Site	SNP	ENST00000412331.2	37	c.435_splice	CCDS13960.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.804061	0.90623	.	.	ENSG00000100129	ENST00000412331;ENST00000425539;ENST00000414316;ENST00000406934;ENST00000451427	T;T	0.40476	1.03;1.04	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.51839	0.1698	L	0.54323	1.7	0.80722	D	1	P;D;D	0.60575	0.751;0.976;0.988	B;P;P	0.51550	0.113;0.524;0.673	T	0.58272	-0.7665	10	0.87932	D	0	-20.0532	18.2336	0.89942	0.0:0.0:1.0:0.0	.	48;146;189	B0QY90;Q9Y262;B0QY89	.;EIF3L_HUMAN;.	E	146;189;163;48;122	ENSP00000416892:G146E;ENSP00000384634:G48E	ENSP00000384634:G48E	G	+	2	0	EIF3L	36588923	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	9.015000	0.93640	2.376000	0.81061	0.585000	0.79938	GGG		0.383	EIF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319551.2	NM_016091	Missense_Mutation	19	48	0	0	0	0.00152264	0	19	48				
DNAH8	1769	broad.mit.edu	37	6	38843598	38843598	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr6:38843598G>A	ENST00000359357.3	+	51	7455	c.7201G>A	c.(7201-7203)Gat>Aat	p.D2401N	DNAH8_ENST00000441566.1_Missense_Mutation_p.D2365N|DNAH8_ENST00000449981.2_Missense_Mutation_p.D2618N			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2401					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTATGTTACTGATTATGGTAA	0.328																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(7201-7203)Gat>Aat		dynein, axonemal, heavy chain 8							77.0	76.0	76.0					6																	38843598		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38843598G>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.7201G>A	6.37:g.38843598G>A	ENSP00000352312:p.Asp2401Asn					DNAH8_ENST00000449981.2_Missense_Mutation_p.D2618N|DNAH8_ENST00000441566.1_Missense_Mutation_p.D2365N	p.D2401N							51	7455	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.7201G>A		.	.	.	.	.	.	.	.	.	.	G	14.96	2.691849	0.48097	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.16597	2.33;2.33;2.33	5.83	5.83	0.93111	.	0.427178	0.27105	N	0.020914	T	0.05823	0.0152	L	0.29908	0.895	0.30698	N	0.750612	B	0.06786	0.001	B	0.06405	0.002	T	0.16129	-1.0413	10	0.31617	T	0.26	.	13.0192	0.58775	0.074:0.0:0.926:0.0	.	2401	Q96JB1	DYH8_HUMAN	N	2606;2606;2401;2365	ENSP00000333363:D2606N;ENSP00000352312:D2401N;ENSP00000402294:D2365N	ENSP00000333363:D2606N	D	+	1	0	DNAH8	38951576	0.181000	0.23161	1.000000	0.80357	0.955000	0.61496	1.899000	0.39818	2.770000	0.95276	0.655000	0.94253	GAT		0.328	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		10	16	0	0	0	0.000978159	0	10	16				
SLC32A1	140679	broad.mit.edu	37	20	37357005	37357005	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr20:37357005C>T	ENST00000217420.1	+	2	1564	c.1301C>T	c.(1300-1302)aCg>aTg	p.T434M		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	434					aging (GO:0007568)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell tip (GO:0051286)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cone cell pedicle (GO:0044316)|dendrite (GO:0030425)|dendrite terminus (GO:0044292)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	gamma-aminobutyric acid:proton symporter activity (GO:0015495)|glycine transmembrane transporter activity (GO:0015187)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	TGGGGGCTGACGCTGCGCTGC	0.682																																						ENST00000217420.1																			0				breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38						c.(1300-1302)aCg>aTg		solute carrier family 32 (GABA vesicular transporter), member 1	Glycine(DB00145)						30.0	31.0	31.0					20																	37357005		2203	4300	6503	SO:0001583	missense	140679				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity	g.chr20:37357005C>T	AL133519	CCDS13307.1	20q11	2013-05-22			ENSG00000101438	ENSG00000101438		"""Solute carriers"""	11018	protein-coding gene	gene with protein product			"""vesicular inhibitory amino acid transporter"""	VIAAT		19843525	Standard	NM_080552		Approved	VGAT, bA122O1.1	uc002xjc.3	Q9H598	OTTHUMG00000032457	ENST00000217420.1:c.1301C>T	20.37:g.37357005C>T	ENSP00000217420:p.Thr434Met						p.T434M	NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN			2	1564	+		Myeloproliferative disorder(115;0.00878)	434					Q8N489	Missense_Mutation	SNP	ENST00000217420.1	37	c.1301C>T	CCDS13307.1	.	.	.	.	.	.	.	.	.	.	C	11.36	1.614808	0.28712	.	.	ENSG00000101438	ENST00000217420	T	0.02301	4.35	4.61	4.61	0.57282	.	0.107617	0.64402	D	0.000007	T	0.02230	0.0069	N	0.22421	0.69	0.58432	D	0.999995	B	0.31769	0.339	B	0.28849	0.095	T	0.64478	-0.6398	10	0.33141	T	0.24	-20.2334	15.2881	0.73846	0.0:1.0:0.0:0.0	.	434	Q9H598	VIAAT_HUMAN	M	434	ENSP00000217420:T434M	ENSP00000217420:T434M	T	+	2	0	SLC32A1	36790419	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.858000	0.55979	2.285000	0.76669	0.563000	0.77884	ACG		0.682	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079206.1	NM_080552		14	41	0	0	0	0.00185496	0	14	41				
ESRP1	54845	broad.mit.edu	37	8	95677423	95677423	+	Splice_Site	SNP	T	T	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr8:95677423T>A	ENST00000433389.2	+	9	1120	c.930T>A	c.(928-930)ggT>ggA	p.G310G	ESRP1_ENST00000423620.2_Splice_Site_p.G310G|ESRP1_ENST00000358397.5_Splice_Site_p.G310G|ESRP1_ENST00000454170.2_Splice_Site_p.G310G	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	310					mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						AAATTGCTGGTGGTAAGTGCC	0.343																																						ENST00000433389.2																		ESRP1/RAF1(4)	0				NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						c.e9+1		epithelial splicing regulatory protein 1							87.0	82.0	83.0					8																	95677423		1845	4093	5938	SO:0001630	splice_region_variant	54845				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding	g.chr8:95677423T>A	AK000178	CCDS47895.1, CCDS47896.1, CCDS47897.1, CCDS47898.1	8q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000104413	ENSG00000104413		"""RNA binding motif (RRM) containing"""	25966	protein-coding gene	gene with protein product		612959	"""RNA binding motif protein 35A"""	RBM35A		12477932	Standard	NM_017697		Approved	FLJ20171	uc003ygq.4	Q6NXG1	OTTHUMG00000164587	ENST00000433389.2:c.931+1T>A	8.37:g.95677423T>A						ESRP1_ENST00000454170.2_Splice_Site_p.G310_splice|ESRP1_ENST00000423620.2_Splice_Site_p.G310_splice|ESRP1_ENST00000358397.5_Splice_Site_p.G310_splice	p.G310_splice	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN			9	1120	+			310					A6NHA8|A8MPX1|E9PB47|Q2M2B0|Q499G3|Q6PJ86|Q9NXL8	Splice_Site	SNP	ENST00000433389.2	37	c.931_splice	CCDS47897.1	.	.	.	.	.	.	.	.	.	.	T	11.45	1.643215	0.29246	.	.	ENSG00000104413	ENST00000519505	.	.	.	5.34	1.59	0.23543	.	.	.	.	.	T	0.46112	0.1376	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25572	-1.0128	4	.	.	.	-12.0125	4.0307	0.09708	0.454:0.1669:0.0:0.3791	.	.	.	.	R	176	.	.	W	+	1	0	ESRP1	95746599	1.000000	0.71417	1.000000	0.80357	0.618000	0.37518	1.300000	0.33436	0.306000	0.22856	0.460000	0.39030	TGG		0.343	ESRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379326.1	NM_017697	Silent	8	25	0	0	0	0.000157383	0	8	25				
S100A11	6282	broad.mit.edu	37	1	152005278	152005278	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr1:152005278G>A	ENST00000271638.2	-	3	297	c.178C>T	c.(178-180)Ctt>Ttt	p.L60F	NBPF18P_ENST00000432386.1_RNA|S100A11_ENST00000478109.1_5'UTR	NM_005620.1	NP_005611.1	P31949	S10AB_HUMAN	S100 calcium binding protein A11	60	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)|S100 protein binding (GO:0044548)			large_intestine(1)|lung(1)|prostate(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			ATGCGGTCAAGGACACCAGGG	0.408																																					Colon(152;1751 1834 12462 21158 46902)	ENST00000271638.2																			0				large_intestine(1)|lung(1)|prostate(1)	3						c.(178-180)Ctt>Ttt		S100 calcium binding protein A11							73.0	70.0	71.0					1																	152005278		2203	4300	6503	SO:0001583	missense	6282				negative regulation of cell proliferation|negative regulation of DNA replication|signal transduction	cytoplasm|nucleus|ruffle	calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|S100 beta binding	g.chr1:152005278G>A	D38583	CCDS1009.1	1q21	2013-01-10	2006-09-11		ENSG00000163191	ENSG00000163191		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10488	protein-coding gene	gene with protein product		603114	"""S100 calcium-binding protein A11 (calgizzarin)"", ""S100 calcium binding protein A11 (calgizzarin)"""			8985590	Standard	NM_005620		Approved	S100C	uc001ezn.3	P31949	OTTHUMG00000013069	ENST00000271638.2:c.178C>T	1.37:g.152005278G>A	ENSP00000271638:p.Leu60Phe					S100A11_ENST00000478109.1_5'UTR|NBPF18P_ENST00000432386.1_RNA	p.L60F	NM_005620.1	NP_005611.1	P31949	S10AB_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)		3	297	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		60			EF-hand 2.		Q5VTK0	Missense_Mutation	SNP	ENST00000271638.2	37	c.178C>T	CCDS1009.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.021271	0.54576	.	.	ENSG00000163191	ENST00000271638	T	0.69040	-0.37	5.09	5.09	0.68999	EF-hand-like domain (1);	0.125811	0.36338	N	0.002653	T	0.66396	0.2785	L	0.56280	1.765	0.36926	D	0.891629	P	0.34934	0.476	P	0.49922	0.626	T	0.69957	-0.5004	10	0.51188	T	0.08	.	14.3446	0.66651	0.0:0.0:1.0:0.0	.	60	P31949	S10AB_HUMAN	F	60	ENSP00000271638:L60F	ENSP00000271638:L60F	L	-	1	0	S100A11	150271902	1.000000	0.71417	1.000000	0.80357	0.436000	0.31835	1.857000	0.39399	2.529000	0.85273	0.491000	0.48974	CTT		0.408	S100A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036676.1	NM_005620		10	54	0	0	0	0.000978159	0	10	54				
TXNDC16	57544	broad.mit.edu	37	14	53010231	53010231	+	Silent	SNP	G	G	C			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr14:53010231G>C	ENST00000281741.4	-	3	416	c.45C>G	c.(43-45)gtC>gtG	p.V15V	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	15					cell redox homeostasis (GO:0045454)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					TGCACATTATGACAAAAGAGA	0.378																																						ENST00000281741.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21						c.(43-45)gtC>gtG		thioredoxin domain containing 16							94.0	100.0	98.0					14																	53010231		2203	4300	6503	SO:0001819	synonymous_variant	57544				cell redox homeostasis	extracellular region		g.chr14:53010231G>C	AB037765	CCDS32083.1	14q22.1	2007-08-16	2007-08-16	2007-08-16		ENSG00000087301			19965	protein-coding gene	gene with protein product			"""KIAA1344"""	KIAA1344			Standard	NM_020784		Approved		uc001wzs.3	Q9P2K2		ENST00000281741.4:c.45C>G	14.37:g.53010231G>C						TXNDC16_ENST00000554399.1_Intron	p.V15V	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN			3	416	-	Breast(41;0.0716)		15					A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Silent	SNP	ENST00000281741.4	37	c.45C>G	CCDS32083.1																																																																																				0.378	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411681.1	XM_051699		16	50	0	0	0	0.000422831	0	16	50				
GRIN2D	2906	broad.mit.edu	37	19	48945466	48945466	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr19:48945466G>A	ENST00000263269.3	+	12	2588	c.2500G>A	c.(2500-2502)Gag>Aag	p.E834K		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	834					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGACAAAATCGAGGTGATGAG	0.577																																						ENST00000263269.3																			0				autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37						c.(2500-2502)Gag>Aag		glutamate receptor, ionotropic, N-methyl D-aspartate 2D	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)						159.0	152.0	155.0					19																	48945466		2203	4300	6503	SO:0001583	missense	2906					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding	g.chr19:48945466G>A	U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4588	protein-coding gene	gene with protein product	"""N-methyl-d-aspartate receptor subunit 2D"""	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.2500G>A	19.37:g.48945466G>A	ENSP00000263269:p.Glu834Lys						p.E834K	NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	12	2588	+		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	834						Missense_Mutation	SNP	ENST00000263269.3	37	c.2500G>A	CCDS12719.1	.	.	.	.	.	.	.	.	.	.	G	34	5.294955	0.95546	.	.	ENSG00000105464	ENST00000263269	T	0.56444	0.46	4.34	4.34	0.51931	Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.64768	0.2628	L	0.39566	1.225	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.68685	-0.5343	10	0.87932	D	0	.	16.1979	0.82043	0.0:0.0:1.0:0.0	.	834	O15399	NMDE4_HUMAN	K	834	ENSP00000263269:E834K	ENSP00000263269:E834K	E	+	1	0	GRIN2D	53637278	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.447000	0.97595	2.433000	0.82419	0.456000	0.33151	GAG		0.577	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1			49	124	0	0	0	0.000781405	0	49	124				
POMGNT1	55624	broad.mit.edu	37	1	46658985	46658985	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr1:46658985C>T	ENST00000371984.3	-	12	1259	c.1102G>A	c.(1102-1104)Gtg>Atg	p.V368M	POMGNT1_ENST00000485714.1_5'UTR|POMGNT1_ENST00000396420.3_3'UTR|POMGNT1_ENST00000371992.1_Missense_Mutation_p.V368M|POMGNT1_ENST00000535522.1_Missense_Mutation_p.V346M|POMGNT1_ENST00000371986.3_Missense_Mutation_p.V368M	NM_017739.3	NP_060209	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	368					protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					ACCTGAGACACGCGGGCATTC	0.587																																						ENST00000371992.1																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(1102-1104)Gtg>Atg		protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)							125.0	110.0	115.0					1																	46658985		2203	4300	6503	SO:0001583	missense	55624				protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity	g.chr1:46658985C>T		CCDS531.1, CCDS57995.1	1p34.1	2014-09-17	2013-07-31		ENSG00000085998	ENSG00000085998	2.4.1.-	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	19139	protein-coding gene	gene with protein product	"""protein O-mannose beta-1,2-N-acetylglucosaminyltransferase"""	606822	"""muscle-eye-brain disease"", ""protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase"""	MEB		11742540, 12788071	Standard	NM_017739		Approved	FLJ20277, MGAT1.2, LGMD2O	uc001cpg.3	Q8WZA1	OTTHUMG00000007604	ENST00000371984.3:c.1102G>A	1.37:g.46658985C>T	ENSP00000361052:p.Val368Met					POMGNT1_ENST00000535522.1_Missense_Mutation_p.V346M|POMGNT1_ENST00000485714.1_5'UTR|POMGNT1_ENST00000396420.3_3'UTR|POMGNT1_ENST00000371984.3_Missense_Mutation_p.V368M|POMGNT1_ENST00000371986.3_Missense_Mutation_p.V368M	p.V368M	NM_001243766.1	NP_001230695.1	Q8WZA1	PMGT1_HUMAN			12	1752	-	Acute lymphoblastic leukemia(166;0.155)		368					D3DQ16|Q5VST2|Q5VST3|Q9BV55|Q9H9L8|Q9NXF9|Q9NYF7	Missense_Mutation	SNP	ENST00000371984.3	37	c.1102G>A	CCDS531.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.488018	0.84854	.	.	ENSG00000085998	ENST00000371984;ENST00000371992;ENST00000535522;ENST00000371986	D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.89546	0.6746	L	0.53249	1.67	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.74023	0.943;0.966;0.982;0.921;0.966	D	0.89892	0.4038	10	0.87932	D	0	-17.6086	19.3555	0.94410	0.0:1.0:0.0:0.0	.	346;346;368;225;368	F5H827;B7Z7Q4;Q5VST3;B7Z7F2;Q8WZA1	.;.;.;.;PMGT1_HUMAN	M	368;368;346;368	ENSP00000361052:V368M;ENSP00000361060:V368M;ENSP00000443767:V346M;ENSP00000361054:V368M	ENSP00000361052:V368M	V	-	1	0	POMGNT1	46431572	1.000000	0.71417	0.997000	0.53966	0.965000	0.64279	6.914000	0.75764	2.813000	0.96785	0.561000	0.74099	GTG		0.587	POMGNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020146.1	NM_017739		13	23	0	0	0	0.00185496	0	13	23				
TRGV9	6983	broad.mit.edu	37	7	38357071	38357071	+	RNA	SNP	G	G	C			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr7:38357071G>C	ENST00000444775.2	-	0	1391									T cell receptor gamma variable 9																		TGCCAGCGTTGATGTGTGGAG	0.468																																						ENST00000444775.2																			0																				28.0	34.0	32.0					7																	38357071		2037	4217	6254			6983							g.chr7:38357071G>C	X07205		7p14	2012-02-07			ENSG00000211695	ENSG00000211695		"""T cell receptors / TRG locus"""	12295	other	T cell receptor gene	"""T-cell receptor, gamma, variable region V9"""			TCRGV9		2969332, 2806544	Standard	NG_001336		Approved	V2			OTTHUMG00000155218		7.37:g.38357071G>C														0	1391	-									RNA	SNP	ENST00000444775.2	37																																																																																						0.468	TRGV9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000338824.3	NG_001336		4	12	0	0	0	0.00116845	0	4	12				
HEATR5A	25938	broad.mit.edu	37	14	31814337	31814337	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr14:31814337C>T	ENST00000389961.3	-	19	2995	c.2996G>A	c.(2995-2997)cGc>cAc	p.R999H	HEATR5A_ENST00000439727.1_Missense_Mutation_p.R712H|HEATR5A_ENST00000543095.2_Missense_Mutation_p.R1005H|HEATR5A_ENST00000439348.1_Missense_Mutation_p.R999H|HEATR5A_ENST00000404677.3_Missense_Mutation_p.R1005H			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	999										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		ATTCAAACAGCGACCAAGGCT	0.388																																						ENST00000543095.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26						c.(3013-3015)cGc>cAc		HEAT repeat containing 5A							184.0	177.0	179.0					14																	31814337		1955	4151	6106	SO:0001583	missense	25938						binding	g.chr14:31814337C>T	AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 125"""	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.2996G>A	14.37:g.31814337C>T	ENSP00000374611:p.Arg999His					HEATR5A_ENST00000404677.3_Missense_Mutation_p.R1005H|HEATR5A_ENST00000439727.1_Missense_Mutation_p.R712H|HEATR5A_ENST00000389961.3_Missense_Mutation_p.R999H|HEATR5A_ENST00000439348.1_Missense_Mutation_p.R999H	p.R1005H	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)	20	3198	-	Hepatocellular(127;0.0877)|Breast(36;0.137)		999					Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	ENST00000389961.3	37	c.3014G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.254217|5.254217	0.95336|0.95336	.|.	.|.	ENSG00000129493|ENSG00000129493	ENST00000538864;ENST00000549719|ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095;ENST00000404677	.|T;T;T;T;T	.|0.07567	.|3.18;3.18;3.18;3.18;3.18	5.41|5.41	5.41|5.41	0.78517|0.78517	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.32971|0.32971	0.0847|0.0847	M|M	0.79475|0.79475	2.455|2.455	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.972;1.0	.|D;P;D	.|0.91635	.|0.999;0.576;0.996	T|T	0.04961|0.04961	-1.0915|-1.0915	5|10	.|0.87932	.|D	.|0	.|.	19.1815|19.1815	0.93625|0.93625	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1005;999;999	.|B5MC49;Q86XA9-2;Q86XA9	.|.;.;HTR5A_HUMAN	T|H	633;24|999;999;712;1005;1005	.|ENSP00000374611:R999H;ENSP00000405407:R999H;ENSP00000408681:R712H;ENSP00000437968:R1005H;ENSP00000384646:R1005H	.|ENSP00000374611:R999H	A|R	-|-	1|2	0|0	HEATR5A|HEATR5A	30884088|30884088	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.622000|7.622000	0.83099|0.83099	2.519000|2.519000	0.84933|0.84933	0.655000|0.655000	0.94253|0.94253	GCT|CGC		0.388	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015473		35	111	0	0	0	0.00058488	0	35	111				
ANKRD36C	400986	broad.mit.edu	37	2	96521777	96521777	+	Missense_Mutation	SNP	T	T	C	rs77768218		TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr2:96521777T>C	ENST00000456556.1	-	63	4316	c.4232A>G	c.(4231-4233)cAt>cGt	p.H1411R	ANKRD36C_ENST00000420871.2_Missense_Mutation_p.H662R|ANKRD36C_ENST00000419039.2_Missense_Mutation_p.H438R			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	1411							ion channel inhibitor activity (GO:0008200)	p.H662R(6)|p.H1411R(3)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						AAGGTCTTCATGCTTTCTTTT	0.383																																						ENST00000456556.1																			9	Substitution - Missense(9)	p.H662R(6)|p.H1411R(3)	kidney(6)|lung(3)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(4231-4233)cAt>cGt		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96521777T>C	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.4232A>G	2.37:g.96521777T>C	ENSP00000403302:p.His1411Arg					ANKRD36C_ENST00000420871.2_Missense_Mutation_p.H662R|ANKRD36C_ENST00000419039.2_Missense_Mutation_p.H438R	p.H1411R							63	4316	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.4232A>G		.	.	.	.	.	.	.	.	.	.	t	1.211	-0.629664	0.03610	.	.	ENSG00000174501	ENST00000420871;ENST00000456556;ENST00000419039	T;T;T	0.13196	2.61;2.61;2.61	1.87	0.665	0.17896	.	.	.	.	.	T	0.05731	0.0150	N	0.14661	0.345	0.09310	N	1	B	0.21071	0.051	B	0.15870	0.014	T	0.42666	-0.9438	9	0.15952	T	0.53	.	1.8453	0.03158	0.2739:0.1735:0.0:0.5526	.	1411	Q5JPF3	AN36C_HUMAN	R	662;1411;438	ENSP00000415231:H662R;ENSP00000403302:H1411R;ENSP00000407838:H438R	ENSP00000407838:H438R	H	-	2	0	AC073995.2	95885504	1.000000	0.71417	0.011000	0.14972	0.003000	0.03518	1.050000	0.30404	0.187000	0.20147	-0.818000	0.03119	CAT		0.383	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		3	34	0	0	0	6.4e-05	0	3	34				
CLSTN1	22883	broad.mit.edu	37	1	9804038	9804038	+	Silent	SNP	G	G	C			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr1:9804038G>C	ENST00000377298.4	-	9	2052	c.1260C>G	c.(1258-1260)ctC>ctG	p.L420L	CLSTN1_ENST00000377288.3_Silent_p.L420L|CLSTN1_ENST00000361311.4_Silent_p.L410L	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	420					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)|calcium ion binding (GO:0005509)|kinesin binding (GO:0019894)|X11-like protein binding (GO:0042988)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		CGTGGACATAGAGGGAGTAGT	0.458																																						ENST00000377298.4																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						c.(1258-1260)ctC>ctG		calsyntenin 1							100.0	107.0	105.0					1																	9804038		2203	4300	6503	SO:0001819	synonymous_variant	22883				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding	g.chr1:9804038G>C	AB020718	CCDS105.1, CCDS30580.1	1p36.22	2011-07-01			ENSG00000171603	ENSG00000171603		"""Cadherins / Cadherin-related"""	17447	protein-coding gene	gene with protein product	"""cadherin-related family member 12"""	611321				10048485	Standard	XM_005263432		Approved	CSTN1, KIAA0911, CDHR12	uc001aqh.3	O94985	OTTHUMG00000001451	ENST00000377298.4:c.1260C>G	1.37:g.9804038G>C						CLSTN1_ENST00000361311.4_Silent_p.L410L|CLSTN1_ENST00000377288.3_Silent_p.L420L	p.L420L	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)	9	2052	-	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	420					A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9	Silent	SNP	ENST00000377298.4	37	c.1260C>G	CCDS30580.1																																																																																				0.458	CLSTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004239.1			34	72	0	0	0	0.00058488	0	34	72				
PCNXL3	399909	broad.mit.edu	37	11	65396095	65396095	+	Silent	SNP	C	C	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr11:65396095C>T	ENST00000355703.3	+	23	4271	c.3732C>T	c.(3730-3732)ttC>ttT	p.F1244F		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1244						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						AGCTGCGTTTCGTGCTGACCT	0.602																																						ENST00000355703.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						c.(3730-3732)ttC>ttT		pecanex-like 3 (Drosophila)							65.0	68.0	67.0					11																	65396095		2134	4232	6366	SO:0001819	synonymous_variant	399909					integral to membrane		g.chr11:65396095C>T	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.3732C>T	11.37:g.65396095C>T							p.F1244F	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN			23	4271	+			1244					Q6MZN8	Silent	SNP	ENST00000355703.3	37	c.3732C>T	CCDS44650.1																																																																																				0.602	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223		20	52	0	0	0	0.00229938	0	20	52				
ADAMTS20	80070	broad.mit.edu	37	12	43826562	43826562	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr12:43826562T>C	ENST00000389420.3	-	20	2772	c.2773A>G	c.(2773-2775)Aga>Gga	p.R925G	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.R925G|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.R79G	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	925	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TCCAAGGTTCTATATCCTTGA	0.383																																						ENST00000389420.3																			0				breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(2773-2775)Aga>Gga		ADAM metallopeptidase with thrombospondin type 1 motif, 20							193.0	171.0	179.0					12																	43826562		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43826562T>C	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.2773A>G	12.37:g.43826562T>C	ENSP00000374071:p.Arg925Gly					ADAMTS20_ENST00000395541.2_Missense_Mutation_p.R79G|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.R925G	p.R925G	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	20	2772	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	925			TSP type-1 3.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.2773A>G	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	T	15.37	2.812675	0.50527	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	T;T;T;T	0.64085	0.14;-0.08;-0.08;-0.05	4.43	0.227	0.15359	.	0.244023	0.27730	N	0.018081	T	0.75027	0.3794	M	0.80422	2.495	0.39690	D	0.971022	D;D	0.65815	0.991;0.995	P;P	0.61592	0.891;0.848	T	0.80032	-0.1552	10	0.87932	D	0	.	13.5396	0.61666	0.0:0.0:0.6988:0.3012	.	925;79	P59510;E9PBD5	ATS20_HUMAN;.	G	925;91;79;925;925	ENSP00000374071:R925G;ENSP00000447427:R91G;ENSP00000378911:R79G;ENSP00000448341:R925G	ENSP00000374068:R925G	R	-	1	2	ADAMTS20	42112829	1.000000	0.71417	0.002000	0.10522	0.404000	0.30871	3.007000	0.49536	0.250000	0.21479	-0.316000	0.08728	AGA		0.383	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		3	176	0	0	0	6.4e-05	0	3	176				
TRPS1	7227	broad.mit.edu	37	8	116631947	116631947	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr8:116631947G>C	ENST00000220888.5	-	2	498	c.339C>G	c.(337-339)ttC>ttG	p.F113L	TRPS1_ENST00000395715.3_Missense_Mutation_p.F126L|TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000520276.1_Missense_Mutation_p.F117L|TRPS1_ENST00000519674.1_Missense_Mutation_p.F113L			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	113					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CTGGAGATGAGAAAGCCAACA	0.527									Langer-Giedion syndrome																													ENST00000395715.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111						c.(376-378)ttC>ttG		trichorhinophalangeal syndrome I							65.0	64.0	64.0					8																	116631947		1924	4134	6058	SO:0001583	missense	7227	Langer-Giedion syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116631947G>C	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.339C>G	8.37:g.116631947G>C	ENSP00000220888:p.Phe113Leu					TRPS1_ENST00000519674.1_Missense_Mutation_p.F113L|TRPS1_ENST00000520276.1_Missense_Mutation_p.F117L|TRPS1_ENST00000220888.5_Missense_Mutation_p.F113L|TRPS1_ENST00000519076.1_Intron	p.F126L	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		3	955	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		113					B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37	c.378C>G		.	.	.	.	.	.	.	.	.	.	G	13.59	2.282695	0.40394	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000520276;ENST00000519674	D;D;D;T	0.98550	-4.99;-4.95;-4.96;0.84	5.82	5.82	0.92795	.	0.076097	0.56097	D	0.000026	D	0.95204	0.8445	N	0.12182	0.205	0.35339	D	0.786335	B;B;B	0.28850	0.225;0.144;0.225	B;B;B	0.33042	0.157;0.075;0.157	D	0.95026	0.8165	10	0.33940	T	0.23	-8.6422	18.2771	0.90087	0.0:0.0:1.0:0.0	.	117;113;126	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	L	126;113;117;113	ENSP00000379065:F126L;ENSP00000220888:F113L;ENSP00000428680:F117L;ENSP00000429174:F113L	ENSP00000220888:F113L	F	-	3	2	TRPS1	116701122	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.144000	0.71762	2.751000	0.94390	0.650000	0.86243	TTC		0.527	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		28	116	0	0	0	0.00106085	0	28	116				
TNPO2	30000	broad.mit.edu	37	19	12822400	12822400	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr19:12822400C>T	ENST00000592287.1	-	10	1026	c.918G>A	c.(916-918)atG>atA	p.M306I	TNPO2_ENST00000356861.5_Missense_Mutation_p.M306I|TNPO2_ENST00000450764.2_Missense_Mutation_p.M306I|TNPO2_ENST00000588216.1_Missense_Mutation_p.M306I|TNPO2_ENST00000425528.1_Missense_Mutation_p.M306I|TNPO2_ENST00000441499.1_Missense_Mutation_p.M306I|TNPO2_ENST00000589956.1_Intron	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	306					intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CCGAGTACTTCATCCCATTCA	0.592																																						ENST00000425528.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(916-918)atG>atA		transportin 2							56.0	57.0	57.0					19																	12822400		2012	4167	6179	SO:0001583	missense	30000				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr19:12822400C>T	AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"""Importins"""	19998	protein-coding gene	gene with protein product	"""importin 3"", ""karyopherin beta 2b"""	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.918G>A	19.37:g.12822400C>T	ENSP00000468434:p.Met306Ile					TNPO2_ENST00000588216.1_Missense_Mutation_p.M306I|TNPO2_ENST00000356861.5_Missense_Mutation_p.M306I|TNPO2_ENST00000441499.1_Missense_Mutation_p.M306I|TNPO2_ENST00000592287.1_Missense_Mutation_p.M306I|TNPO2_ENST00000589956.1_Intron|TNPO2_ENST00000450764.2_Missense_Mutation_p.M306I	p.M306I			O14787	TNPO2_HUMAN			11	1275	-			306					O14655|Q6IN77	Missense_Mutation	SNP	ENST00000592287.1	37	c.918G>A	CCDS45991.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.974939	0.92919	.	.	ENSG00000105576	ENST00000536114;ENST00000425528;ENST00000441499;ENST00000450764;ENST00000356861;ENST00000420511;ENST00000546320	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28	5.28	5.28	0.74379	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85877	0.5799	M	0.92317	3.295	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.69824	0.966;0.953	D	0.89411	0.3703	10	0.87932	D	0	-7.667	17.673	0.88224	0.0:1.0:0.0:0.0	.	470;306	Q4LE60;O14787	.;TNPO2_HUMAN	I	470;306;306;306;306;306;306	ENSP00000407182:M306I;ENSP00000389648:M306I;ENSP00000397379:M306I;ENSP00000349321:M306I	ENSP00000349321:M306I	M	-	3	0	TNPO2	12683400	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.253000	0.78320	2.474000	0.83562	0.561000	0.74099	ATG		0.592	TNPO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450785.1	NM_013433		7	25	0	0	0	0.000157383	0	7	25				
SLC52A1	55065	broad.mit.edu	37	17	4937188	4937188	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr17:4937188G>T	ENST00000424747.1	-	3	1308	c.596C>A	c.(595-597)gCa>gAa	p.A199E	SLC52A1_ENST00000512825.2_Missense_Mutation_p.A199E|SLC52A1_ENST00000254853.5_Missense_Mutation_p.A199E	NM_001104577.1	NP_001098047.1	Q9NWF4	S52A1_HUMAN	solute carrier family 52 (riboflavin transporter), member 1	199					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)										GGCAGTCAGTGCCCAGAAGAA	0.637																																						ENST00000512825.2																			0											c.(595-597)gCa>gAa		solute carrier family 52 (riboflavin transporter), member 1							74.0	76.0	75.0					17																	4937188		2203	4300	6503	SO:0001583	missense	55065					integral to plasma membrane	receptor activity|riboflavin transporter activity	g.chr17:4937188G>T	AY070775	CCDS11066.1	17p13.3	2013-07-17	2013-07-17	2012-02-29	ENSG00000132517	ENSG00000132517		"""Solute carriers"""	30225	protein-coding gene	gene with protein product	"""riboflavin transporter 1"""	607883	"""G protein-coupled receptor 172B"""	GPR172B		12740431, 18632736	Standard	NM_001104577		Approved	FLJ10060, GPCR42, PAR2, hRFT1, RFVT1	uc002gao.4	Q9NWF4	OTTHUMG00000099448	ENST00000424747.1:c.596C>A	17.37:g.4937188G>T	ENSP00000399979:p.Ala199Glu					SLC52A1_ENST00000254853.5_Missense_Mutation_p.A199E|SLC52A1_ENST00000424747.1_Missense_Mutation_p.A199E	p.A199E			Q9NWF4	RFT_HUMAN			3	2007	-			199					B5MEV1|B5MEV2|Q6P9E0|Q86UT0	Missense_Mutation	SNP	ENST00000424747.1	37	c.596C>A	CCDS11066.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.726460	0.48833	.	.	ENSG00000132517	ENST00000254853;ENST00000512825;ENST00000424747	T;D;T	0.81579	-0.89;-1.51;-0.89	1.27	0.236	0.15471	.	0.769925	0.12195	N	0.490857	T	0.68869	0.3048	L	0.47716	1.5	0.09310	N	0.999999	P;B	0.42692	0.787;0.393	B;B	0.38616	0.277;0.132	T	0.61705	-0.7008	10	0.87932	D	0	.	2.5525	0.04752	0.2296:0.3222:0.4482:0.0	.	199;199	F5H5Y1;Q9NWF4	.;RFT_HUMAN	E	199	ENSP00000254853:A199E;ENSP00000443026:A199E;ENSP00000399979:A199E	ENSP00000254853:A199E	A	-	2	0	GPR172B	4877912	0.977000	0.34250	0.589000	0.28718	0.924000	0.55760	3.275000	0.51639	0.108000	0.17862	0.655000	0.94253	GCA		0.637	SLC52A1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216913.1	NM_017986		31	81	1	0	9.04072e-19	0.00058488	5.23017e-18	31	81				
RLF	6018	broad.mit.edu	37	1	40661334	40661334	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr1:40661334A>T	ENST00000372771.4	+	4	532	c.505A>T	c.(505-507)Aat>Tat	p.N169Y		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	169					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			GGAATTTGGGAATAATAACCT	0.353																																						ENST00000372771.4																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68						c.(505-507)Aat>Tat		rearranged L-myc fusion							67.0	67.0	67.0					1																	40661334		2203	4300	6503	SO:0001583	missense	6018				chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr1:40661334A>T		CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.505A>T	1.37:g.40661334A>T	ENSP00000361857:p.Asn169Tyr						p.N169Y	NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)		4	532	+	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	169					Q14CQ1|Q9NU60	Missense_Mutation	SNP	ENST00000372771.4	37	c.505A>T	CCDS448.1	.	.	.	.	.	.	.	.	.	.	A	19.61	3.859672	0.71834	.	.	ENSG00000117000	ENST00000372771	T	0.16196	2.36	5.1	5.1	0.69264	.	0.041945	0.85682	D	0.000000	T	0.26846	0.0657	L	0.59436	1.845	0.41654	D	0.989142	D	0.56968	0.978	P	0.52267	0.694	T	0.02404	-1.1164	10	0.66056	D	0.02	-17.8242	10.1618	0.42855	0.9213:0.0:0.0787:0.0	.	169	Q13129	RLF_HUMAN	Y	169	ENSP00000361857:N169Y	ENSP00000361857:N169Y	N	+	1	0	RLF	40433921	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	5.091000	0.64505	1.919000	0.55581	0.377000	0.23210	AAT		0.353	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1	NM_012421		11	28	0	0	0	0.000978159	0	11	28				
FMN2	56776	broad.mit.edu	37	1	240492663	240492663	+	Silent	SNP	C	C	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr1:240492663C>A	ENST00000319653.9	+	10	4562	c.4332C>A	c.(4330-4332)atC>atA	p.I1444I	FMN2_ENST00000545751.1_Silent_p.I40I	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1444	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TGTCACTAATCCCCAACTTTT	0.358																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(4330-4332)atC>atA		formin 2							165.0	154.0	158.0					1																	240492663		2203	4300	6503	SO:0001819	synonymous_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240492663C>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.4332C>A	1.37:g.240492663C>A						FMN2_ENST00000545751.1_Silent_p.I40I	p.I1444I	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		10	4562	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1444			FH2.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.4332C>A	CCDS31069.2																																																																																				0.358	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		16	64	1	0	1.3612e-06	0.000308642	7.00619e-06	16	64				
ST6GAL2	84620	broad.mit.edu	37	2	107459965	107459965	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr2:107459965C>T	ENST00000409382.3	-	2	1079	c.469G>A	c.(469-471)Ggc>Agc	p.G157S	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.G157S|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.G157S|AC016994.2_ENST00000425419.1_RNA	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	157					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TCCCGTGGGCCTGGCTCCCCG	0.632																																						ENST00000409382.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						c.(469-471)Ggc>Agc		ST6 beta-galactosamide alpha-2,6-sialyltranferase 2							80.0	96.0	91.0					2																	107459965		2203	4300	6503	SO:0001583	missense	84620				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr2:107459965C>T	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.469G>A	2.37:g.107459965C>T	ENSP00000386942:p.Gly157Ser					ST6GAL2_ENST00000361686.4_Missense_Mutation_p.G157S|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.G157S	p.G157S	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN			2	1079	-			157					D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	ENST00000409382.3	37	c.469G>A	CCDS2073.1	.	.	.	.	.	.	.	.	.	.	C	6.548	0.469414	0.12461	.	.	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087	T;T;T	0.28069	2.64;2.64;1.63	4.89	1.77	0.24775	.	1.022410	0.07802	N	0.956596	T	0.12390	0.0301	N	0.08118	0	0.09310	N	1	B;B	0.20052	0.041;0.013	B;B	0.16722	0.016;0.003	T	0.33701	-0.9858	10	0.06891	T	0.86	-0.9876	3.4801	0.07599	0.183:0.4727:0.2503:0.094	.	157;157	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	S	157	ENSP00000355273:G157S;ENSP00000386942:G157S;ENSP00000387332:G157S	ENSP00000355273:G157S	G	-	1	0	ST6GAL2	106826397	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	0.500000	0.22562	0.395000	0.25257	-0.264000	0.10439	GGC		0.632	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528		52	129	0	0	0	0.000781405	0	52	129				
MECOM	2122	broad.mit.edu	37	3	168838947	168838947	+	Silent	SNP	G	G	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr3:168838947G>T	ENST00000464456.1	-	6	1665	c.465C>A	c.(463-465)gtC>gtA	p.V155V	MECOM_ENST00000460814.1_Silent_p.V155V|MECOM_ENST00000494292.1_Silent_p.V343V|MECOM_ENST00000264674.3_Silent_p.V220V|MECOM_ENST00000433243.2_Silent_p.V156V|MECOM_ENST00000468789.1_Silent_p.V155V|MECOM_ENST00000392736.3_Silent_p.V155V|MECOM_ENST00000472280.1_Silent_p.V156V	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CCCGGGCACCGACATGCTGAG	0.522																																						ENST00000464456.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						c.(463-465)gtC>gtA		MDS1 and EVI1 complex locus							103.0	97.0	99.0					3																	168838947		2203	4300	6503	SO:0001819	synonymous_variant	2122						sequence-specific DNA binding transcription factor activity	g.chr3:168838947G>T	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.465C>A	3.37:g.168838947G>T						MECOM_ENST00000468789.1_Silent_p.V155V|MECOM_ENST00000392736.3_Silent_p.V155V|MECOM_ENST00000460814.1_Silent_p.V155V|MECOM_ENST00000433243.2_Silent_p.V156V|MECOM_ENST00000494292.1_Silent_p.V343V|MECOM_ENST00000472280.1_Silent_p.V156V|MECOM_ENST00000264674.3_Silent_p.V220V	p.V155V	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN			6	1665	-			0					Q13466|Q6FH90	Silent	SNP	ENST00000464456.1	37	c.465C>A	CCDS54669.1																																																																																				0.522	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		16	42	1	0	9.16793e-09	0.000566183	4.78922e-08	16	42				
DENND4B	9909	broad.mit.edu	37	1	153905172	153905172	+	Silent	SNP	G	G	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr1:153905172G>A	ENST00000361217.4	-	23	4123	c.3705C>T	c.(3703-3705)gaC>gaT	p.D1235D	DENND4B_ENST00000474386.1_5'UTR	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1235					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AGAGCCTTCGGTCACTGAGCA	0.627																																						ENST00000361217.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(3703-3705)gaC>gaT		DENN/MADD domain containing 4B							47.0	54.0	52.0					1																	153905172		2054	4185	6239	SO:0001819	synonymous_variant	9909							g.chr1:153905172G>A	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.3705C>T	1.37:g.153905172G>A						DENND4B_ENST00000474386.1_5'UTR	p.D1235D	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		23	4123	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		1235					Q5T4K0	Silent	SNP	ENST00000361217.4	37	c.3705C>T	CCDS44228.1																																																																																				0.627	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		22	62	0	0	0	0.00229938	0	22	62				
ATP8A1	10396	broad.mit.edu	37	4	42445599	42445599	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr4:42445599G>T	ENST00000381668.5	-	33	3337	c.3106C>A	c.(3106-3108)Cct>Act	p.P1036T	ATP8A1_ENST00000264449.10_Missense_Mutation_p.P1021T|AC084010.1_ENST00000582816.1_RNA	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	1036					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GACATATCAGGGGCCATCGGA	0.433																																						ENST00000381668.5																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51						c.(3106-3108)Cct>Act		ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	Phosphatidylserine(DB00144)						104.0	95.0	98.0					4																	42445599		2203	4300	6503	SO:0001583	missense	10396				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:42445599G>T	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.3106C>A	4.37:g.42445599G>T	ENSP00000371084:p.Pro1036Thr					ATP8A1_ENST00000264449.10_Missense_Mutation_p.P1021T	p.P1036T	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN			33	3337	-			1036					Q32M35|Q32M36|Q4W5J7|Q4W5P2	Missense_Mutation	SNP	ENST00000381668.5	37	c.3106C>A	CCDS3466.1	.	.	.	.	.	.	.	.	.	.	G	10.59	1.392542	0.25118	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	D;D	0.92048	-2.96;-2.96	5.21	5.21	0.72293	.	0.000000	0.64402	D	0.000001	D	0.93141	0.7816	L	0.36672	1.1	0.80722	D	1	D;P;P	0.64830	0.994;0.655;0.655	D;B;B	0.68353	0.957;0.313;0.313	D	0.89826	0.3992	10	0.12766	T	0.61	.	19.1267	0.93388	0.0:0.0:1.0:0.0	.	1021;1036;1028	Q32M35;Q9Y2Q0;E7EUK4	.;AT8A1_HUMAN;.	T	1036;1021	ENSP00000371084:P1036T;ENSP00000264449:P1021T	ENSP00000264449:P1021T	P	-	1	0	ATP8A1	42140356	1.000000	0.71417	0.996000	0.52242	0.243000	0.25628	6.315000	0.72853	2.602000	0.87976	0.655000	0.94253	CCT		0.433	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095		11	28	1	0	4.36969e-10	0.00185496	2.31726e-09	11	28				
ADAMTS7	11173	broad.mit.edu	37	15	79059041	79059041	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr15:79059041T>C	ENST00000388820.4	-	19	3422	c.3212A>G	c.(3211-3213)aAt>aGt	p.N1071S	ADAMTS7_ENST00000566303.1_5'Flank	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1071					cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.N1071S(4)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CTCGTGGAAATTGATGAAATT	0.617																																						ENST00000388820.4																			4	Substitution - Missense(4)	p.N1071S(4)	lung(2)|kidney(2)	NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						c.(3211-3213)aAt>aGt		ADAM metallopeptidase with thrombospondin type 1 motif, 7																																				SO:0001583	missense	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79059041T>C	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.3212A>G	15.37:g.79059041T>C	ENSP00000373472:p.Asn1071Ser						p.N1071S	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN			19	3422	-			1071					Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	c.3212A>G	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	t	16.38	3.107658	0.56291	.	.	ENSG00000136378	ENST00000388820	T	0.61742	0.08	4.66	2.13	0.27403	.	0.056036	0.64402	D	0.000002	T	0.59252	0.2180	M	0.76002	2.32	0.35198	D	0.774007	P	0.48503	0.911	P	0.46144	0.505	T	0.66571	-0.5890	10	0.41790	T	0.15	.	10.1871	0.43004	0.0:0.0:0.3202:0.6798	.	1071	Q9UKP4	ATS7_HUMAN	S	1071	ENSP00000373472:N1071S	ENSP00000373472:N1071S	N	-	2	0	ADAMTS7	76846096	1.000000	0.71417	0.986000	0.45419	0.484000	0.33280	3.143000	0.50608	0.107000	0.17824	0.367000	0.22151	AAT		0.617	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		5	42	0	0	0	0.000602214	0	5	42				
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	82								p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.L82S(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(244-246)tTg>tCg																																						SO:0001583	missense	284802							g.chr20:29628243T>C			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.245T>C	20.37:g.29628243T>C	ENSP00000278882:p.Leu82Ser					FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S	p.L82S							6	625	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.245T>C		.	.	.	.	.	.	.	.	.	.	t	12.14	1.848999	0.32699	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.147685	0.45361	D	0.000380	T	0.38665	0.1049	.	.	.	0.46185	D	0.99891	B;B	0.27656	0.03;0.184	B;B	0.35813	0.11;0.211	T	0.24548	-1.0157	9	0.38643	T	0.18	.	8.0833	0.30758	0.0:0.0:0.0:1.0	.	87;82	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	S	82;87;82	ENSP00000408863:L87S	ENSP00000278882:L82S	L	+	2	0	FRG1B	28241904	1.000000	0.71417	0.998000	0.56505	0.541000	0.35023	6.955000	0.76007	1.208000	0.43306	0.347000	0.21830	TTG		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	59	0	0	0	0.00024832	0	4	59				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			158160							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		3	47	0	0	0	6.4e-05	0	3	47				
LRRCC1	85444	broad.mit.edu	37	8	86035688	86035688	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr8:86035688G>A	ENST00000360375.3	+	7	1120	c.971G>A	c.(970-972)aGa>aAa	p.R324K	LRRCC1_ENST00000414626.2_Missense_Mutation_p.R304K	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	324					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						AAAGACCCCAGACCAAAAAGA	0.308																																						ENST00000414626.2																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						c.(910-912)aGa>aAa		leucine rich repeat and coiled-coil centrosomal protein 1							72.0	73.0	73.0					8																	86035688		1793	4068	5861	SO:0001583	missense	85444				cell division|mitosis	centriole|nucleus		g.chr8:86035688G>A	BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"""centrosomal leucine-rich repeat and coiled-coil containing protein"", ""variable number of flagella 1 homolog (Chlamydomonas)"""		"""leucine rich repeat and coiled-coil domain containing 1"""			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.971G>A	8.37:g.86035688G>A	ENSP00000353538:p.Arg324Lys					LRRCC1_ENST00000360375.3_Missense_Mutation_p.R324K	p.R304K			Q9C099	LRCC1_HUMAN			6	1800	+			324					B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Missense_Mutation	SNP	ENST00000360375.3	37	c.911G>A	CCDS43750.1	.	.	.	.	.	.	.	.	.	.	G	4.711	0.132158	0.08981	.	.	ENSG00000133739	ENST00000426019;ENST00000360375;ENST00000414626	T;T	0.26067	1.76;1.76	5.83	2.66	0.31614	.	0.000000	0.43260	D	0.000591	T	0.12603	0.0306	L	0.37466	1.105	0.31543	N	0.659662	B;B;B;B	0.14438	0.003;0.008;0.001;0.01	B;B;B;B	0.12156	0.003;0.007;0.006;0.004	T	0.27536	-1.0071	10	0.02654	T	1	-3.1864	2.0126	0.03491	0.3815:0.0:0.3702:0.2483	.	231;304;231;324	B4DV06;Q9C099-2;E9PE41;Q9C099	.;.;.;LRCC1_HUMAN	K	231;324;304	ENSP00000353538:R324K;ENSP00000394695:R304K	ENSP00000353538:R324K	R	+	2	0	LRRCC1	86222940	1.000000	0.71417	0.810000	0.32431	0.721000	0.41392	3.285000	0.51716	0.789000	0.33779	0.650000	0.86243	AGA		0.308	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402		4	155	0	0	0	0.00024832	0	4	155				
ZBTB45	84878	broad.mit.edu	37	19	59028060	59028060	+	Silent	SNP	C	C	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr19:59028060C>T	ENST00000594051.1	-	2	1461	c.981G>A	c.(979-981)ccG>ccA	p.P327P	ZBTB45_ENST00000600990.1_Silent_p.P327P|ZBTB45_ENST00000354590.3_Silent_p.P327P			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	327	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		GTGCAACGGGCGGCCCTGGGG	0.692																																					NSCLC(164;1383 2017 5233 27540 46677)	ENST00000594051.1																			0				breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11						c.(979-981)ccG>ccA		zinc finger and BTB domain containing 45							17.0	20.0	19.0					19																	59028060		2202	4296	6498	SO:0001819	synonymous_variant	84878				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:59028060C>T	AK027392	CCDS12984.1	19q13.43	2013-10-10	2006-09-19	2006-09-19	ENSG00000119574	ENSG00000119574		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	23715	protein-coding gene	gene with protein product			"""zinc finger protein 499"""	ZNF499			Standard	NM_032792		Approved	FLJ14486	uc002qtd.3	Q96K62	OTTHUMG00000183545	ENST00000594051.1:c.981G>A	19.37:g.59028060C>T						ZBTB45_ENST00000354590.3_Silent_p.P327P|ZBTB45_ENST00000600990.1_Silent_p.P327P	p.P327P			Q96K62	ZBT45_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)	2	1461	-		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	327			Pro-rich.			Silent	SNP	ENST00000594051.1	37	c.981G>A	CCDS12984.1																																																																																				0.692	ZBTB45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467067.1	NM_032792		12	20	0	0	0	0.00185496	0	12	20				
STARD3	10948	broad.mit.edu	37	17	37817129	37817129	+	Missense_Mutation	SNP	G	G	A	rs201876420	byFrequency	TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr17:37817129G>A	ENST00000336308.5	+	12	1239	c.1021G>A	c.(1021-1023)Gtg>Atg	p.V341M	STARD3_ENST00000580611.1_Missense_Mutation_p.V315M|STARD3_ENST00000544210.2_Missense_Mutation_p.V341M|STARD3_ENST00000394250.4_Missense_Mutation_p.V323M	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain containing 3	341	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|mitochondrial transport (GO:0006839)|progesterone biosynthetic process (GO:0006701)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	cholesterol binding (GO:0015485)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TGCGGGCGGCGTGGTCTCCCC	0.607													G|||	3	0.000599042	0.0	0.0	5008	,	,		15944	0.002		0.0	False		,,,				2504	0.001					ENST00000336308.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14						c.(1021-1023)Gtg>Atg		StAR-related lipid transfer (START) domain containing 3		G	MET/VAL,MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	77.0	88.0	84.0		1021,967,1021	3.6	0.9	17		84	0,8600		0,0,4300	no	missense,missense,missense	STARD3	NM_001165937.1,NM_001165938.1,NM_006804.3	21,21,21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign	341/446,323/428,341/446	37817129	1,13005	2203	4300	6503	SO:0001583	missense	10948				cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity	g.chr17:37817129G>A		CCDS11341.1, CCDS54117.1, CCDS54118.1	17q11-q12	2011-09-12	2007-08-16		ENSG00000131748	ENSG00000131748		"""StAR-related lipid transfer (START) domain containing"""	17579	protein-coding gene	gene with protein product		607048	"""START domain containing 3"""				Standard	NM_006804		Approved	es64, MLN64	uc002hsd.3	Q14849	OTTHUMG00000133213	ENST00000336308.5:c.1021G>A	17.37:g.37817129G>A	ENSP00000337446:p.Val341Met					STARD3_ENST00000580611.1_Missense_Mutation_p.V315M|STARD3_ENST00000394250.4_Missense_Mutation_p.V323M|STARD3_ENST00000544210.2_Missense_Mutation_p.V341M	p.V341M	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		12	1239	+	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		341			START.		A8MXA4|B4DUY1|F5H0G2|Q53Y53|Q96HM9	Missense_Mutation	SNP	ENST00000336308.5	37	c.1021G>A	CCDS11341.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	13.78	2.339101	0.41398	2.27E-4	0.0	ENSG00000131748	ENST00000336308;ENST00000544210;ENST00000394250	T;T;T	0.79653	-1.29;-1.29;-1.29	4.59	3.62	0.41486	Lipid-binding START (3);START-like domain (1);	0.260739	0.37577	N	0.002024	T	0.64670	0.2619	L	0.33485	1.01	0.45852	D	0.99871	B;P;B;P;B	0.46784	0.14;0.884;0.1;0.785;0.018	B;B;B;B;B	0.32724	0.016;0.151;0.053;0.142;0.009	T	0.65483	-0.6157	10	0.46703	T	0.11	-5.4481	9.388	0.38356	0.1634:0.0:0.8366:0.0	.	341;106;341;323;341	F5H0G2;Q59EN9;B4DUY1;A8MXA4;Q14849	.;.;.;.;STAR3_HUMAN	M	341;341;323	ENSP00000337446:V341M;ENSP00000439869:V341M;ENSP00000377794:V323M	ENSP00000337446:V341M	V	+	1	0	STARD3	35070655	1.000000	0.71417	0.853000	0.33588	0.912000	0.54170	5.871000	0.69628	1.183000	0.42943	-0.219000	0.12488	GTG		0.607	STARD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256933.1			40	95	0	0	0	0.000953801	0	40	95				
TMEM2	23670	broad.mit.edu	37	9	74347385	74347385	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr9:74347385C>T	ENST00000377044.4	-	7	1984	c.1445G>A	c.(1444-1446)aGa>aAa	p.R482K	TMEM2_ENST00000377066.5_Missense_Mutation_p.R419K	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	482					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		AACCTCAGCTCTCATGTCTAC	0.408																																						ENST00000377044.4																			0				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56						c.(1444-1446)aGa>aAa		transmembrane protein 2							106.0	96.0	99.0					9																	74347385		2203	4300	6503	SO:0001583	missense	23670					integral to membrane		g.chr9:74347385C>T		CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.1445G>A	9.37:g.74347385C>T	ENSP00000366243:p.Arg482Lys					TMEM2_ENST00000377066.5_Missense_Mutation_p.R419K	p.R482K	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)	7	1984	-		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)	482					A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	37	c.1445G>A	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	C	36	5.633712	0.96682	.	.	ENSG00000135048	ENST00000377044;ENST00000377066	D;T	0.92199	-2.99;-1.08	5.54	5.54	0.83059	Pectin lyase fold/virulence factor (1);	0.000000	0.85682	D	0.000000	D	0.96253	0.8778	M	0.81802	2.56	0.80722	D	1	D;D	0.76494	0.993;0.999	D;D	0.76071	0.911;0.987	D	0.95890	0.8906	10	0.52906	T	0.07	.	19.4964	0.95075	0.0:1.0:0.0:0.0	.	482;419	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	K	482;419	ENSP00000366243:R482K;ENSP00000366266:R419K	ENSP00000366243:R482K	R	-	2	0	TMEM2	73537205	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.783000	0.85696	2.618000	0.88619	0.650000	0.86243	AGA		0.408	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390		5	38	0	0	0	0.000602214	0	5	38				
DCDC1	341019	broad.mit.edu	37	11	31312208	31312208	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr11:31312208C>A	ENST00000452803.1	-	7	1147	c.946G>T	c.(946-948)Gaa>Taa	p.E316*	DCDC1_ENST00000597505.1_Nonsense_Mutation_p.E316*	NM_181807.3	NP_861523.2	P59894	DCDC1_HUMAN	doublecortin domain containing 1	316					intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TTCATTGTTTCTTTTCCCACT	0.323																																						ENST00000597505.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31						c.(946-948)Gaa>Taa		doublecortin domain containing 1							62.0	62.0	62.0					11																	31312208		2202	4299	6501	SO:0001587	stop_gained	341019				intracellular signal transduction			g.chr11:31312208C>A	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000452803.1:c.946G>T	11.37:g.31312208C>A	ENSP00000389792:p.Glu316*					DCDC1_ENST00000452803.1_Nonsense_Mutation_p.E316*	p.E316*			P59894	DCDC1_HUMAN			5	945	-	Lung SC(675;0.225)		316					A6PVL6|B7WNX6|Q6ZU04	Nonsense_Mutation	SNP	ENST00000452803.1	37	c.946G>T	CCDS7872.1	.	.	.	.	.	.	.	.	.	.	C	35	5.577623	0.96565	.	.	ENSG00000188682	ENST00000452803	.	.	.	5.31	3.4	0.38934	.	0.362432	0.23396	N	0.048623	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-30.4136	6.9964	0.24784	0.0:0.7033:0.0:0.2967	.	.	.	.	X	316	.	ENSP00000389792:E316X	E	-	1	0	DCDC1	31268784	0.963000	0.33076	1.000000	0.80357	0.951000	0.60555	1.377000	0.34317	1.357000	0.45904	0.655000	0.94253	GAA		0.323	DCDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316531.1	NM_181807		12	38	1	0	5.16669e-11	0.000978159	2.78206e-10	12	38				
FPGS	2356	broad.mit.edu	37	9	130572339	130572339	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr9:130572339A>G	ENST00000373247.2	+	13	1291	c.1241A>G	c.(1240-1242)aAt>aGt	p.N414S	FPGS_ENST00000460181.1_3'UTR|FPGS_ENST00000393706.2_Missense_Mutation_p.N388S|FPGS_ENST00000373225.3_Missense_Mutation_p.N364S|FPGS_ENST00000373245.1_Missense_Mutation_p.M365V	NM_004957.4	NP_004948.4	Q05932	FOLC_HUMAN	folylpolyglutamate synthase	414					brain development (GO:0007420)|folic acid metabolic process (GO:0046655)|liver development (GO:0001889)|nucleobase-containing compound metabolic process (GO:0006139)|one-carbon metabolic process (GO:0006730)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|tetrahydrofolylpolyglutamate synthase activity (GO:0004326)			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					Methotrexate(DB00563)|Pralatrexate(DB06813)|Raltitrexed(DB00293)	TTGCTCTTCAATGCTACCGGG	0.687																																						ENST00000373245.1																			0				endometrium(2)|kidney(1)|lung(3)|ovary(1)	7						c.(1093-1095)Atg>Gtg		folylpolyglutamate synthase	L-Glutamic Acid(DB00142)						28.0	29.0	28.0					9																	130572339		2201	4300	6501	SO:0001583	missense	2356				folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity	g.chr9:130572339A>G		CCDS35148.1, CCDS35149.1, CCDS75905.1	9q34.11	2013-09-19			ENSG00000136877	ENSG00000136877	6.3.2.17		3824	protein-coding gene	gene with protein product		136510					Standard	NM_004957		Approved		uc004bsg.1	Q05932	OTTHUMG00000020716	ENST00000373247.2:c.1241A>G	9.37:g.130572339A>G	ENSP00000362344:p.Asn414Ser					FPGS_ENST00000460181.1_3'UTR|FPGS_ENST00000393706.2_Missense_Mutation_p.N388S|FPGS_ENST00000373247.2_Missense_Mutation_p.N414S|FPGS_ENST00000373225.3_Missense_Mutation_p.N364S	p.M365V			Q05932	FOLC_HUMAN			12	1143	+			0					B3KPW4|B7Z2Z3|F5H0K6|Q5JU19|Q5JU22|Q6P2P6	Missense_Mutation	SNP	ENST00000373247.2	37	c.1093A>G	CCDS35148.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.24|19.24	3.789122|3.789122	0.70337|0.70337	.|.	.|.	ENSG00000136877|ENSG00000136877	ENST00000373245;ENST00000373228|ENST00000373247;ENST00000393706;ENST00000373225	T;T|T;T;T	0.30182|0.40756	1.54;1.54|1.02;1.02;1.02	4.9|4.9	4.9|4.9	0.64082|0.64082	.|Mur ligase, C-terminal (2);	.|0.095230	.|0.64402	.|D	.|0.000001	T|T	0.59918|0.59918	0.2229|0.2229	M|M	0.91300|0.91300	3.195|3.195	0.29543|0.29543	N|N	0.851898|0.851898	.|P;P	.|0.42941	.|0.794;0.794	.|P;P	.|0.46659	.|0.523;0.523	T|T	0.68168|0.68168	-0.5480|-0.5480	7|10	0.87932|0.66056	D|D	0|0.02	-19.4792|-19.4792	13.6861|13.6861	0.62517|0.62517	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|388;414	.|Q05932-4;Q05932	.|.;FOLC_HUMAN	V|S	365|414;388;364	ENSP00000362342:M365V;ENSP00000362325:M365V|ENSP00000362344:N414S;ENSP00000377309:N388S;ENSP00000362322:N364S	ENSP00000362325:M365V|ENSP00000362322:N364S	M|N	+|+	1|2	0|0	FPGS|FPGS	129612160|129612160	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.174000|0.174000	0.22865|0.22865	8.184000|8.184000	0.89702|0.89702	1.843000|1.843000	0.53566|0.53566	0.374000|0.374000	0.22700|0.22700	ATG|AAT		0.687	FPGS-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054251.1			8	22	0	0	0	0.000673444	0	8	22				
SGK1	6446	broad.mit.edu	37	6	134495871	134495871	+	Splice_Site	SNP	G	G	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr6:134495871G>A	ENST00000237305.7	-	1	163	c.75C>T	c.(73-75)atC>atT	p.I25I	SGK1_ENST00000475719.2_Splice_Site_p.I25I|SGK1_ENST00000489458.2_5'Flank|SGK1_ENST00000413996.3_Intron|SGK1_ENST00000367858.5_Intron|SGK1_ENST00000528577.1_Intron|SGK1_ENST00000367857.5_5'UTR	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	25	Necessary for localization to the mitochondria.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|ion transmembrane transport (GO:0034220)|long-term memory (GO:0007616)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of gastric acid secretion (GO:0060453)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|renal sodium ion absorption (GO:0070294)|response to stress (GO:0006950)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		TGCACTCACCGATGAGAATTG	0.542											OREG0017675	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000237305.7																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46						c.e1+1		serum/glucocorticoid regulated kinase 1							138.0	133.0	135.0					6																	134495871		2203	4300	6503	SO:0001630	splice_region_variant	6446				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:134495871G>A	AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515			10810	protein-coding gene	gene with protein product		602958	"""serum/glucocorticoid regulated kinase"""	SGK		9114008, 9722955	Standard	NM_005627		Approved		uc003qeo.4	O00141	OTTHUMG00000015613	ENST00000237305.7:c.76+1C>T	6.37:g.134495871G>A			OREG0017675	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1611	SGK1_ENST00000475719.2_Splice_Site_p.I25_splice|SGK1_ENST00000367858.5_Intron|SGK1_ENST00000367857.5_5'UTR|SGK1_ENST00000528577.1_Intron|SGK1_ENST00000413996.3_Intron	p.I25_splice	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)	1	163	-	Colorectal(23;0.221)		25			Necessary for localization to the cytoplasm.		B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Splice_Site	SNP	ENST00000237305.7	37	c.76_splice	CCDS5170.1																																																																																				0.542	SGK1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042312.2		Silent	35	113	0	0	0	0.000814825	0	35	113				
SULF1	23213	broad.mit.edu	37	8	70570762	70570762	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr8:70570762G>T	ENST00000260128.4	+	23	3325	c.2608G>T	c.(2608-2610)Gaa>Taa	p.E870*	SULF1_ENST00000419716.3_Nonsense_Mutation_p.E870*|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000458141.2_Nonsense_Mutation_p.E870*|SULF1_ENST00000402687.4_Nonsense_Mutation_p.E870*	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	870					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GGATGGATGGGAAGGTTAATC	0.433																																						ENST00000260128.4																			0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(2608-2610)Gaa>Taa		sulfatase 1							122.0	101.0	108.0					8																	70570762		2203	4300	6503	SO:0001587	stop_gained	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70570762G>T	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.2608G>T	8.37:g.70570762G>T	ENSP00000260128:p.Glu870*					SULF1_ENST00000458141.2_Nonsense_Mutation_p.E870*|SULF1_ENST00000402687.4_Nonsense_Mutation_p.E870*|SULF1_ENST00000419716.3_Nonsense_Mutation_p.E870*|SULF1_ENST00000521946.1_3'UTR	p.E870*	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		23	3325	+	Breast(64;0.0654)		870					Q86YV8|Q8NCA2|Q9UPS5	Nonsense_Mutation	SNP	ENST00000260128.4	37	c.2608G>T	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	G	44	11.114043	0.99518	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	.	.	.	5.28	5.28	0.74379	.	0.195184	0.47093	D	0.000247	.	.	.	.	.	.	0.31592	N	0.653795	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	19.1132	0.93326	0.0:0.0:1.0:0.0	.	.	.	.	X	870	.	ENSP00000260128:E870X	E	+	1	0	SULF1	70733316	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.514000	0.60482	2.736000	0.93811	0.655000	0.94253	GAA		0.433	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		40	45	1	0	8.04919e-23	0.000781405	4.73482e-22	40	45				
MFSD3	113655	broad.mit.edu	37	8	145737407	145737407	+	IGR	SNP	C	C	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr8:145737407C>T	ENST00000301327.4	+	0	1548				RECQL4_ENST00000428558.2_Missense_Mutation_p.E1094K|RECQL4_ENST00000532237.1_5'UTR|CTD-2517M22.17_ENST00000580385.1_RNA	NM_138431.1	NP_612440.1	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing 3						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CTGCGCTCCTCATCCTGCTGC	0.682																																						ENST00000428558.2										"""N, F, S"""						"""osteosarcoma, skin basal and sqamous cell"""			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						c.(3280-3282)Gag>Aag	Genes defective in diseases associated with sensitivity to DNA damaging agents	RecQ protein-like 4							18.0	20.0	20.0					8																	145737407		2075	4185	6260	SO:0001628	intergenic_variant	9401	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome			DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding	g.chr8:145737407C>T		CCDS6431.1	8q24.3	2005-11-17			ENSG00000167700	ENSG00000167700			25157	protein-coding gene	gene with protein product							Standard	NM_138431		Approved		uc003zdi.1	Q96ES6	OTTHUMG00000165177		8.37:g.145737407C>T						RECQL4_ENST00000532237.1_5'UTR	p.E1094K	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		20	3321	-	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1094						Missense_Mutation	SNP	ENST00000301327.4	37	c.3280G>A	CCDS6431.1																																																																																				0.682	MFSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382478.2	NM_138431		5	29	0	0	0	0.000602214	0	5	29				
ART1	417	broad.mit.edu	37	11	3681420	3681420	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr11:3681420G>T	ENST00000250693.1	+	3	772	c.671G>T	c.(670-672)tGc>tTc	p.C224F		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	224					innate immune response (GO:0045087)|protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)		ATCTGGACCTGCCTTGGGGCC	0.602																																						ENST00000250693.1																			0				endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8						c.(670-672)tGc>tTc		ADP-ribosyltransferase 1	Becaplermin(DB00102)						45.0	43.0	44.0					11																	3681420		2201	4298	6499	SO:0001583	missense	417				protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity	g.chr11:3681420G>T	S74683	CCDS7744.1	11p15	2006-02-23			ENSG00000129744	ENSG00000129744		"""CD molecules"""	723	protein-coding gene	gene with protein product		601625				8812442	Standard	NM_004314		Approved	ART2, CD296	uc001lye.1	P52961	OTTHUMG00000011845	ENST00000250693.1:c.671G>T	11.37:g.3681420G>T	ENSP00000250693:p.Cys224Phe						p.C224F	NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	3	772	+		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	224					Q6NTD2|Q96KT9	Missense_Mutation	SNP	ENST00000250693.1	37	c.671G>T	CCDS7744.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.002327	0.74932	.	.	ENSG00000129744	ENST00000250693	T	0.14766	2.48	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.47414	0.1444	M	0.91920	3.255	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.57533	-0.7795	9	.	.	.	.	16.6768	0.85281	0.0:0.0:1.0:0.0	.	224	P52961	NAR1_HUMAN	F	224	ENSP00000250693:C224F	.	C	+	2	0	ART1	3637996	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	6.638000	0.74309	2.534000	0.85438	0.563000	0.77884	TGC		0.602	ART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032765.1	NM_004314		20	55	1	0	8.28177e-16	0.000958276	4.67519e-15	20	55				
B4GALNT1	2583	broad.mit.edu	37	12	58021971	58021971	+	Silent	SNP	G	G	A	rs541794502	byFrequency	TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr12:58021971G>A	ENST00000341156.4	-	9	1661	c.1077C>T	c.(1075-1077)ttC>ttT	p.F359F	B4GALNT1_ENST00000418555.2_Silent_p.F304F|B4GALNT1_ENST00000550943.1_5'Flank	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	359					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid metabolic process (GO:0006687)|lipid glycosylation (GO:0030259)|lipid storage (GO:0019915)|protein glycosylation (GO:0006486)|spermatogenesis (GO:0007283)	integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|plasma membrane (GO:0005886)	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity (GO:0003947)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			CCGTGAAGACGAAGTCGTCGT	0.652													G|||	2	0.000399361	0.0	0.0	5008	,	,		17362	0.002		0.0	False		,,,				2504	0.0					ENST00000341156.4																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20						c.(1075-1077)ttC>ttT		beta-1,4-N-acetyl-galactosaminyl transferase 1							89.0	85.0	86.0					12																	58021971		2203	4300	6503	SO:0001819	synonymous_variant	2583				lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	g.chr12:58021971G>A	M83651	CCDS8950.1, CCDS61170.1, CCDS61171.1	12q13.3	2013-09-11	2006-01-08	2006-01-08	ENSG00000135454	ENSG00000135454	2.4.1.92	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	4117	protein-coding gene	gene with protein product	"""GD2 synthase, GM2 synthase"""	601873	"""UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)"", ""UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1"", ""spastic paraplegia 26"""	GALGT, SPG26		1601877, 23746551	Standard	NM_001478		Approved	beta1-4GalNAc-T	uc001spg.2	Q00973	OTTHUMG00000170190	ENST00000341156.4:c.1077C>T	12.37:g.58021971G>A						B4GALNT1_ENST00000418555.2_Silent_p.F304F	p.F359F	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		9	1661	-	Melanoma(17;0.122)		359					B4DE26|Q8N636	Silent	SNP	ENST00000341156.4	37	c.1077C>T	CCDS8950.1	.	.	.	.	.	.	.	.	.	.	.	10.24	1.296153	0.23650	.	.	ENSG00000135454	ENST00000547741	.	.	.	4.79	-1.41	0.08941	.	.	.	.	.	T	0.55529	0.1926	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49360	-0.8948	4	.	.	.	-10.8849	10.0331	0.42111	0.572:0.0:0.428:0.0	.	.	.	.	L	31	.	.	S	-	2	0	B4GALNT1	56308238	0.091000	0.21658	0.822000	0.32727	0.828000	0.46876	0.194000	0.17135	-0.501000	0.06605	-0.258000	0.10820	TCG		0.652	B4GALNT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407853.1	NM_001478		17	75	0	0	0	0.00074312	0	17	75				
ANKS6	203286	broad.mit.edu	37	9	101552849	101552849	+	Silent	SNP	G	G	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr9:101552849G>A	ENST00000353234.4	-	2	446	c.399C>T	c.(397-399)caC>caT	p.H133H	ANKS6_ENST00000375018.1_Silent_p.H133H|ANKS6_ENST00000375019.2_Intron|ANKS6_ENST00000471846.1_5'UTR|ANKS6_ENST00000540940.1_De_novo_Start_OutOfFrame			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	133						cilium (GO:0005929)|cytoplasm (GO:0005737)				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				CATCAGCCCCGTGATCCAACA	0.597																																						ENST00000540940.1																			0				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21								ankyrin repeat and sterile alpha motif domain containing 6							30.0	33.0	32.0					9																	101552849		2073	4199	6272	SO:0001819	synonymous_variant	203286							g.chr9:101552849G>A	AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	26724	protein-coding gene	gene with protein product		615370	"""sterile alpha motif domain containing 6"", ""ankyrin repeat domain 14"""	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.399C>T	9.37:g.101552849G>A						ANKS6_ENST00000375018.1_Silent_p.H133H|ANKS6_ENST00000375019.2_Intron|ANKS6_ENST00000471846.1_5'UTR|ANKS6_ENST00000353234.4_Silent_p.H133H				Q68DC2	ANKS6_HUMAN			0	36	-		Acute lymphoblastic leukemia(62;0.0527)						A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Translation_Start_Site	SNP	ENST00000353234.4	37		CCDS43856.1																																																																																				0.597	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277053.1	NM_173551		11	29	0	0	0	0.000673444	0	11	29				
CAP1	10487	broad.mit.edu	37	1	40525048	40525048	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr1:40525048A>T	ENST00000372797.3	+	2	591	c.30A>T	c.(28-30)agA>agT	p.R10S	CAP1_ENST00000372798.1_Missense_Mutation_p.R10S|CAP1_ENST00000372805.3_Missense_Mutation_p.R10S|CAP1_ENST00000340450.3_Missense_Mutation_p.R10S|CAP1_ENST00000372802.1_Missense_Mutation_p.R10S|CAP1_ENST00000372792.2_Missense_Mutation_p.R10S	NM_001105530.1|NM_006367.3	NP_001099000|NP_006358	Q13114	TRAF3_HUMAN	CAP, adenylate cyclase-associated protein 1 (yeast)	0					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|regulation of apoptotic process (GO:0042981)|regulation of cytokine production (GO:0001817)|regulation of defense response to virus (GO:0050688)|regulation of interferon-beta production (GO:0032648)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|Toll signaling pathway (GO:0008063)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGGTAGAAAGATTGGAGAGGG	0.453																																						ENST00000372797.3																			0				endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12						c.(28-30)agA>agT		CAP, adenylate cyclase-associated protein 1 (yeast)							83.0	84.0	84.0					1																	40525048		1881	4117	5998	SO:0001583	missense	10487				activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction	plasma membrane	actin binding	g.chr1:40525048A>T	L12168	CCDS41309.1	1p34.3	2010-07-13			ENSG00000131236	ENSG00000131236			20040	protein-coding gene	gene with protein product						1406678, 8761950	Standard	NM_006367		Approved	CAP	uc001cey.4	Q01518	OTTHUMG00000004493	ENST00000372797.3:c.30A>T	1.37:g.40525048A>T	ENSP00000361883:p.Arg10Ser					CAP1_ENST00000372805.3_Missense_Mutation_p.R10S|CAP1_ENST00000372792.2_Missense_Mutation_p.R10S|CAP1_ENST00000372798.1_Missense_Mutation_p.R10S|CAP1_ENST00000372802.1_Missense_Mutation_p.R10S|CAP1_ENST00000340450.3_Missense_Mutation_p.R10S	p.R10S	NM_001105530.1|NM_006367.3	NP_001099000.1|NP_006358.1	Q01518	CAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		2	591	+	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	10					B7Z8C4|Q12990|Q13076|Q13947|Q6AZX1|Q9UNL1	Missense_Mutation	SNP	ENST00000372797.3	37	c.30A>T	CCDS41309.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.675698	0.88445	.	.	ENSG00000131236	ENST00000372797;ENST00000372802;ENST00000449311;ENST00000421589;ENST00000414893;ENST00000414281;ENST00000420216;ENST00000372792;ENST00000372798;ENST00000340450;ENST00000372805;ENST00000435719;ENST00000372794;ENST00000427843;ENST00000424977;ENST00000417287;ENST00000446031	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;1.72;1.72;1.72;1.72;1.72;1.72;1.72;1.72;1.72;1.72;1.72;1.72	5.75	-1.12	0.09808	Adenylate cyclase-associated CAP, N-terminal (1);CAP, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.46405	0.1391	M	0.91663	3.23	0.53005	D	0.999961	P	0.51240	0.943	P	0.55667	0.781	T	0.55528	-0.8127	10	0.87932	D	0	-0.3916	9.4638	0.38800	0.4496:0.0:0.5504:0.0	.	10	Q01518	CAP1_HUMAN	S	10	ENSP00000361883:R10S;ENSP00000361888:R10S;ENSP00000398475:R10S;ENSP00000403198:R10S;ENSP00000398877:R10S;ENSP00000408561:R10S;ENSP00000410586:R10S;ENSP00000361878:R10S;ENSP00000361884:R10S;ENSP00000344832:R10S;ENSP00000361891:R10S;ENSP00000412859:R10S;ENSP00000413656:R10S;ENSP00000413383:R10S;ENSP00000400943:R10S;ENSP00000389974:R10S	ENSP00000344832:R10S	R	+	3	2	CAP1	40297635	0.249000	0.23941	0.993000	0.49108	0.999000	0.98932	0.288000	0.18939	-0.051000	0.13334	0.528000	0.53228	AGA		0.453	CAP1-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000013109.1	NM_006367		27	69	0	0	0	0.000586117	0	27	69				
ESRP1	54845	broad.mit.edu	37	8	95677422	95677422	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr8:95677422G>T	ENST00000433389.2	+	9	1119	c.929G>T	c.(928-930)gGt>gTt	p.G310V	ESRP1_ENST00000423620.2_Missense_Mutation_p.G310V|ESRP1_ENST00000358397.5_Missense_Mutation_p.G310V|ESRP1_ENST00000454170.2_Missense_Mutation_p.G310V	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	310					mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						AAAATTGCTGGTGGTAAGTGC	0.348																																						ENST00000433389.2																		ESRP1/RAF1(4)	0				NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						c.(928-930)gGt>gTt		epithelial splicing regulatory protein 1							88.0	82.0	84.0					8																	95677422		1844	4094	5938	SO:0001583	missense	54845				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding	g.chr8:95677422G>T	AK000178	CCDS47895.1, CCDS47896.1, CCDS47897.1, CCDS47898.1	8q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000104413	ENSG00000104413		"""RNA binding motif (RRM) containing"""	25966	protein-coding gene	gene with protein product		612959	"""RNA binding motif protein 35A"""	RBM35A		12477932	Standard	NM_017697		Approved	FLJ20171	uc003ygq.4	Q6NXG1	OTTHUMG00000164587	ENST00000433389.2:c.929G>T	8.37:g.95677422G>T	ENSP00000405738:p.Gly310Val					ESRP1_ENST00000454170.2_Missense_Mutation_p.G310V|ESRP1_ENST00000423620.2_Missense_Mutation_p.G310V|ESRP1_ENST00000358397.5_Missense_Mutation_p.G310V	p.G310V	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN			9	1119	+			310					A6NHA8|A8MPX1|E9PB47|Q2M2B0|Q499G3|Q6PJ86|Q9NXL8	Missense_Mutation	SNP	ENST00000433389.2	37	c.929G>T	CCDS47897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.9|20.9	4.066542|4.066542	0.76187|0.76187	.|.	.|.	ENSG00000104413|ENSG00000104413	ENST00000423620;ENST00000433389;ENST00000358397;ENST00000454170;ENST00000522756;ENST00000517610|ENST00000519505	T;T;T;T;T;T|.	0.34072|.	2.63;3.33;3.33;1.38;2.16;3.33|.	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73737|0.73737	0.3625|0.3625	L|L	0.61218|0.61218	1.895|1.895	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	0.998;1.0;0.999;0.991;0.999;0.998|.	D;D;D;D;D;D|.	0.79784|.	0.979;0.993;0.984;0.943;0.984;0.973|.	T|T	0.71553|0.71553	-0.4558|-0.4558	10|5	0.87932|.	D|.	0|.	-12.0125|-12.0125	19.0576|19.0576	0.93072|0.93072	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	310;310;310;310;310;310|.	D7PBN3;Q6NXG1-4;Q6NXG1-2;E9PB47;Q6NXG1-3;Q6NXG1|.	.;.;.;.;.;ESRP1_HUMAN|.	V|C	310;310;310;310;93;169|175	ENSP00000407349:G310V;ENSP00000405738:G310V;ENSP00000351168:G310V;ENSP00000402766:G310V;ENSP00000428490:G93V;ENSP00000429125:G169V|.	ENSP00000351168:G310V|.	G|W	+|+	2|3	0|0	ESRP1|ESRP1	95746598|95746598	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.621000|0.621000	0.37620|0.37620	7.863000|7.863000	0.87023|0.87023	2.498000|2.498000	0.84270|0.84270	0.563000|0.563000	0.77884|0.77884	GGT|TGG		0.348	ESRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379326.1	NM_017697		9	26	1	0	0.000274275	0.000274275	0.00137138	9	26				
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	83								p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A83T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(247-249)Gcc>Acc																																						SO:0001583	missense	284802							g.chr20:29628245G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.247G>A	20.37:g.29628245G>A	ENSP00000278882:p.Ala83Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T	p.A83T							6	627	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.247G>A		.	.	.	.	.	.	.	.	.	.	g	18.80	3.700173	0.68501	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50277	0.75	2.08	2.08	0.27032	Actin cross-linking (1);	0.055129	0.64402	D	0.000001	T	0.40473	0.1118	.	.	.	0.51482	D	0.99992	B;P	0.40875	0.016;0.731	B;P	0.45558	0.085;0.485	T	0.12502	-1.0545	9	0.21540	T	0.41	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	88;83	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	T	83;88;83	ENSP00000408863:A88T	ENSP00000278882:A83T	A	+	1	0	FRG1B	28241906	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCC		0.353	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	59	0	0	0	0.00024832	0	4	59				
DNAJC13	23317	broad.mit.edu	37	3	132166224	132166224	+	Silent	SNP	C	C	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr3:132166224C>T	ENST00000260818.6	+	4	452	c.204C>T	c.(202-204)ttC>ttT	p.F68F	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	68					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						GAACGGAGTTCAACCTCACAT	0.368																																						ENST00000260818.6																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						c.(202-204)ttC>ttT		DnaJ (Hsp40) homolog, subfamily C, member 13							68.0	73.0	72.0					3																	132166224		2202	4300	6502	SO:0001819	synonymous_variant	23317						heat shock protein binding	g.chr3:132166224C>T	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.204C>T	3.37:g.132166224C>T						DNAJC13_ENST00000486798.1_3'UTR	p.F68F	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN			4	452	+			68					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Silent	SNP	ENST00000260818.6	37	c.204C>T	CCDS33857.1																																																																																				0.368	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		13	69	0	0	0	0.00185496	0	13	69				
THOP1	7064	broad.mit.edu	37	19	2810358	2810358	+	Silent	SNP	G	G	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr19:2810358G>A	ENST00000307741.6	+	10	1715	c.1512G>A	c.(1510-1512)ccG>ccA	p.P504P	THOP1_ENST00000586677.1_Silent_p.P383P|THOP1_ENST00000395212.4_Silent_p.P15P|THOP1_ENST00000591149.1_3'UTR	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	504					intracellular signal transduction (GO:0035556)|peptide metabolic process (GO:0006518)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGAGGCGCCGTCGCAGATGC	0.682																																						ENST00000307741.6																			0				NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14						c.(1510-1512)ccG>ccA		thimet oligopeptidase 1							42.0	45.0	44.0					19																	2810358		2200	4300	6500	SO:0001819	synonymous_variant	7064				proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding	g.chr19:2810358G>A		CCDS12095.1	19p13.3	2008-02-05				ENSG00000172009	3.4.24.15		11793	protein-coding gene	gene with protein product		601117				9790774	Standard	NM_003249		Approved		uc002lwj.3	P52888		ENST00000307741.6:c.1512G>A	19.37:g.2810358G>A						THOP1_ENST00000591149.1_3'UTR|THOP1_ENST00000395212.4_Silent_p.P15P|THOP1_ENST00000586677.1_Silent_p.P383P	p.P504P	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	10	1715	+			504					B3KSE2|Q9UCB3	Silent	SNP	ENST00000307741.6	37	c.1512G>A	CCDS12095.1																																																																																				0.682	THOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451587.2			17	25	0	0	0	0.00074312	0	17	25				
DGKK	139189	broad.mit.edu	37	X	50119800	50119800	+	RNA	SNP	G	G	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chrX:50119800G>A	ENST00000376025.2	-	0	3287							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TGCTGCATCTGGGCATACTCC	0.502																																						ENST00000376025.2																			0				central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45								diacylglycerol kinase, kappa							87.0	82.0	84.0					X																	50119800		1989	4129	6118			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50119800G>A	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50119800G>A										Q5KSL6	DGKK_HUMAN			0	3287	-	Ovarian(276;0.236)							B2RP91	RNA	SNP	ENST00000376025.2	37																																																																																						0.502	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		8	10	0	0	0	0.000157383	0	8	10				
RLF	6018	broad.mit.edu	37	1	40661333	40661333	+	Silent	SNP	G	G	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr1:40661333G>A	ENST00000372771.4	+	4	531	c.504G>A	c.(502-504)ggG>ggA	p.G168G		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	168					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			TGGAATTTGGGAATAATAACC	0.358																																						ENST00000372771.4																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68						c.(502-504)ggG>ggA		rearranged L-myc fusion							67.0	67.0	67.0					1																	40661333		2203	4300	6503	SO:0001819	synonymous_variant	6018				chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr1:40661333G>A		CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.504G>A	1.37:g.40661333G>A							p.G168G	NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)		4	531	+	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	168					Q14CQ1|Q9NU60	Silent	SNP	ENST00000372771.4	37	c.504G>A	CCDS448.1																																																																																				0.358	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1	NM_012421		11	29	0	0	0	0.000978159	0	11	29				
TAS2R38	5726	broad.mit.edu	37	7	141673457	141673457	+	Silent	SNP	G	G	C			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr7:141673457G>C	ENST00000547270.1	-	1	116	c.33C>G	c.(31-33)tcC>tcG	p.S11S		NM_176817.4	NP_789787	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	11					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					TGACTTCATAGGACACAGTGC	0.433																																						ENST00000547270.1																			0				NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21						c.(31-33)tcC>tcG		taste receptor, type 2, member 38							116.0	114.0	115.0					7																	141673457		2203	4300	6503	SO:0001819	synonymous_variant	5726				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:141673457G>C	AF494231	CCDS34765.1	7q34	2012-10-03	2003-05-29	2003-05-30	ENSG00000257138	ENSG00000257138		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	9584	protein-coding gene	gene with protein product		607751	"""phenylthiocarbamide tasting"""	PTC		12624758, 12584440	Standard	NM_176817		Approved	T2R61	uc003vwx.1	P59533	OTTHUMG00000158374	ENST00000547270.1:c.33C>G	7.37:g.141673457G>C							p.S11S	NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN			1	116	-	Melanoma(164;0.0171)		11					A4D1U6|P59552|Q2M3E8|Q645W3|Q86UK3	Silent	SNP	ENST00000547270.1	37	c.33C>G	CCDS34765.1																																																																																				0.433	TAS2R38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350810.2	NM_176817		19	68	0	0	0	0.00278032	0	19	68				
WWC1	23286	broad.mit.edu	37	5	167850580	167850580	+	Silent	SNP	C	C	G			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr5:167850580C>G	ENST00000265293.4	+	11	1819	c.1317C>G	c.(1315-1317)ccC>ccG	p.P439P	WWC1_ENST00000521089.1_Silent_p.P439P	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	439					cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|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)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)	p.P439P(1)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GCAGCAGCCCCGGATCCCTCA	0.617																																						ENST00000265293.4																			1	Substitution - coding silent(1)	p.P439P(1)	lung(1)	breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43						c.(1315-1317)ccC>ccG		WW and C2 domain containing 1							84.0	88.0	86.0					5																	167850580		2203	4300	6503	SO:0001819	synonymous_variant	23286				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity	g.chr5:167850580C>G	AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"""WW, C2 and coiled-coil domain containing"""	29435	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 168"""	610533	"""WW, C2 and coiled-coil domain containing 1"""			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.1317C>G	5.37:g.167850580C>G						WWC1_ENST00000521089.1_Silent_p.P439P	p.P439P	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)	11	1819	+	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	439					B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Silent	SNP	ENST00000265293.4	37	c.1317C>G	CCDS4366.1	.	.	.	.	.	.	.	.	.	.	C	4.503	0.093306	0.08632	.	.	ENSG00000113645	ENST00000393895;ENST00000524228	.	.	.	5.22	-10.4	0.00318	.	.	.	.	.	T	0.45856	0.1363	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57306	-0.7834	4	.	.	.	.	8.4403	0.32812	0.0:0.3484:0.1808:0.4707	.	.	.	.	G	401;216	.	.	R	+	1	2	WWC1	167783158	0.002000	0.14202	0.061000	0.19648	0.638000	0.38207	-1.506000	0.02271	-2.726000	0.00386	-1.631000	0.00782	CGG		0.617	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	NM_015238		32	111	0	0	0	0.00178596	0	32	111				
MFSD10	10227	broad.mit.edu	37	4	2934445	2934445	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr4:2934445C>T	ENST00000329687.4	-	4	947	c.413G>A	c.(412-414)cGg>cAg	p.R138Q	MFSD10_ENST00000514800.1_Missense_Mutation_p.R138Q|NOP14-AS1_ENST00000512712.2_RNA|MFSD10_ENST00000508221.1_Missense_Mutation_p.R138Q|NOP14-AS1_ENST00000507999.1_RNA|MFSD10_ENST00000355443.4_Missense_Mutation_p.R138Q|NOP14-AS1_ENST00000515194.1_RNA|NOP14-AS1_ENST00000505731.1_RNA|MFSD10_ENST00000507555.1_Missense_Mutation_p.R138Q	NM_001120.4	NP_001111.3	Q14728	MFS10_HUMAN	major facilitator superfamily domain containing 10	138					apoptotic process (GO:0006915)|tetracycline transport (GO:0015904)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)	tetracycline transporter activity (GO:0008493)			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CGCAAAGCTCCGAGAGGTGGC	0.652																																						ENST00000329687.4																			0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7						c.(412-414)cGg>cAg		major facilitator superfamily domain containing 10							50.0	56.0	54.0					4																	2934445		2203	4300	6503	SO:0001583	missense	10227				apoptosis	integral to membrane	tetracycline transporter activity	g.chr4:2934445C>T	L11669	CCDS3365.1	4p16.3	2008-03-03			ENSG00000109736	ENSG00000109736			16894	protein-coding gene	gene with protein product	"""tetracycline transporter like protein"""	610977				8353488, 17362938	Standard	NM_001120		Approved	TETRAN, IT10C3	uc003gfz.3	Q14728	OTTHUMG00000122081	ENST00000329687.4:c.413G>A	4.37:g.2934445C>T	ENSP00000332646:p.Arg138Gln					MFSD10_ENST00000514800.1_Missense_Mutation_p.R138Q|MFSD10_ENST00000355443.4_Missense_Mutation_p.R138Q|MFSD10_ENST00000508221.1_Missense_Mutation_p.R138Q|MFSD10_ENST00000507555.1_Missense_Mutation_p.R138Q	p.R138Q	NM_001120.4	NP_001111.3	Q14728	MFS10_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	4	947	-			138					Q07706	Missense_Mutation	SNP	ENST00000329687.4	37	c.413G>A	CCDS3365.1	.	.	.	.	.	.	.	.	.	.	C	12.24	1.879085	0.33162	.	.	ENSG00000109736	ENST00000514800;ENST00000355443;ENST00000329687;ENST00000508221;ENST00000507555	T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42	4.73	1.6	0.23607	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.298636	0.33980	N	0.004361	T	0.41026	0.1141	L	0.39397	1.21	0.30847	N	0.735005	P;P;P;B	0.44429	0.731;0.835;0.835;0.433	B;B;B;B	0.42462	0.233;0.309;0.388;0.233	T	0.43877	-0.9364	10	0.13853	T	0.58	.	11.7548	0.51870	0.0:0.8124:0.0:0.1876	.	138;138;138;138	D6RIZ4;D6RE79;D6RA47;Q14728	.;.;.;MFS10_HUMAN	Q	138	ENSP00000426907:R138Q;ENSP00000347619:R138Q;ENSP00000332646:R138Q;ENSP00000425757:R138Q;ENSP00000423402:R138Q	ENSP00000332646:R138Q	R	-	2	0	MFSD10	2904243	0.042000	0.20092	0.406000	0.26421	0.803000	0.45373	0.577000	0.23758	0.255000	0.21593	0.563000	0.77884	CGG		0.652	MFSD10-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358072.2	NM_001120		15	64	0	0	0	0.000566183	0	15	64				
PIGC	5279	broad.mit.edu	37	1	172411603	172411603	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr1:172411603C>T	ENST00000367728.1	-	1	1623	c.160G>A	c.(160-162)Gag>Aag	p.E54K	C1orf105_ENST00000367727.4_Intron|PIGC_ENST00000484368.1_Intron|PIGC_ENST00000344529.4_Missense_Mutation_p.E54K|PIGC_ENST00000258324.1_Missense_Mutation_p.E54K			Q92535	PIGC_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class C	54					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)|phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			breast(1)|endometrium(1)|kidney(1)|lung(1)	4						ACACTGGACTCAAATACCACA	0.498																																						ENST00000367728.1																			0				breast(1)|endometrium(1)|kidney(1)|lung(1)	4						c.(160-162)Gag>Aag		phosphatidylinositol glycan anchor biosynthesis, class C							125.0	124.0	125.0					1																	172411603		2203	4300	6503	SO:0001583	missense	5279				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity	g.chr1:172411603C>T	BC006539	CCDS1302.1	1q23-q25	2013-02-26	2006-06-28		ENSG00000135845	ENSG00000135845	2.4.1.198	"""Phosphatidylinositol glycan anchor biosynthesis"""	8960	protein-coding gene	gene with protein product	"""phosphatidylinositol N-acetylglucosaminyltransferase"""	601730	"""phosphatidylinositol glycan, class C"""			8806613, 9325057	Standard	NM_153747		Approved		uc001gio.3	Q92535	OTTHUMG00000034751	ENST00000367728.1:c.160G>A	1.37:g.172411603C>T	ENSP00000356702:p.Glu54Lys					PIGC_ENST00000344529.4_Missense_Mutation_p.E54K|C1orf105_ENST00000367727.4_Intron|PIGC_ENST00000258324.1_Missense_Mutation_p.E54K|PIGC_ENST00000484368.1_Intron	p.E54K			Q92535	PIGC_HUMAN			1	1623	-			54					O14491	Missense_Mutation	SNP	ENST00000367728.1	37	c.160G>A	CCDS1302.1	.	.	.	.	.	.	.	.	.	.	C	18.09	3.545583	0.65198	.	.	ENSG00000135845	ENST00000344529;ENST00000367728;ENST00000258324	T;T;T	0.43294	0.95;0.95;0.95	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.36580	0.0972	L	0.56769	1.78	0.80722	D	1	P	0.46859	0.885	P	0.51324	0.666	T	0.18840	-1.0324	10	0.09338	T	0.73	-3.3549	17.3024	0.87186	0.0:1.0:0.0:0.0	.	54	Q92535	PIGC_HUMAN	K	54	ENSP00000356701:E54K;ENSP00000356702:E54K;ENSP00000258324:E54K	ENSP00000258324:E54K	E	-	1	0	PIGC	170678226	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	5.724000	0.68500	2.432000	0.82394	0.655000	0.94253	GAG		0.498	PIGC-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084068.1	NM_153747		32	109	0	0	0	0.0024448	0	32	109				
SMG6	23293	broad.mit.edu	37	17	2200598	2200598	+	Missense_Mutation	SNP	T	T	A	rs143802482		TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr17:2200598T>A	ENST00000263073.6	-	4	2140	c.2090A>T	c.(2089-2091)aAg>aTg	p.K697M	SMG6_ENST00000544865.1_Missense_Mutation_p.K666M	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	697					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CAGTTTGAACTTGTAAGTAAC	0.358																																					Melanoma(59;28 1088 11621 25887 46638 50814)	ENST00000544865.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(1996-1998)aAg>aTg		SMG6 nonsense mediated mRNA decay factor							134.0	136.0	135.0					17																	2200598		2203	4300	6503	SO:0001583	missense	23293				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding	g.chr17:2200598T>A	AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.2090A>T	17.37:g.2200598T>A	ENSP00000263073:p.Lys697Met					SMG6_ENST00000263073.5_Missense_Mutation_p.K697M	p.K666M			Q86US8	EST1A_HUMAN			4	2507	-			697					B7Z874|O94837|Q86VH6|Q9UF60	Missense_Mutation	SNP	ENST00000263073.6	37	c.1997A>T	CCDS11016.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.130718	0.77549	.	.	ENSG00000070366	ENST00000263073;ENST00000544865	T;T	0.18502	2.21;2.21	5.08	5.08	0.68730	Telomerase activating protein Est1 (1);	0.059921	0.64402	D	0.000002	T	0.21347	0.0514	N	0.24115	0.695	0.41349	D	0.987351	P	0.47484	0.896	P	0.52267	0.694	T	0.02491	-1.1151	10	0.66056	D	0.02	-10.4628	14.8502	0.70292	0.0:0.0:0.0:1.0	.	697	Q86US8	EST1A_HUMAN	M	697;666	ENSP00000263073:K697M;ENSP00000443920:K666M	ENSP00000263073:K697M	K	-	2	0	SMG6	2147348	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.906000	0.69900	1.897000	0.54924	0.374000	0.22700	AAG		0.358	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3			34	93	0	0	0	0.00209593	0	34	93				
LSM2	57819	broad.mit.edu	37	6	31765655	31765655	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr6:31765655G>A	ENST00000375661.5	-	5	393	c.167C>T	c.(166-168)tCa>tTa	p.S56L	LSM2_ENST00000491421.1_5'UTR|VARS_ENST00000444930.2_5'Flank|VARS_ENST00000375663.3_5'Flank	NM_021177.4	NP_067000.1	Q9Y333	LSM2_HUMAN	LSM2 homolog, U6 small nuclear RNA associated (S. cerevisiae)	56					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|U6 snRNA binding (GO:0017070)			large_intestine(1)|lung(1)	2						GTTCTTCACTGATAACTAGAC	0.493																																						ENST00000375661.5																			0				large_intestine(1)|lung(1)	2						c.(166-168)tCa>tTa		LSM2 homolog, U6 small nuclear RNA associated (S. cerevisiae)							194.0	214.0	207.0					6																	31765655		1511	2709	4220	SO:0001583	missense	57819				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytosol|nucleoplasm	U6 snRNA binding	g.chr6:31765655G>A	AF182288	CCDS4722.1	6p21.3	2010-02-17	2003-02-17	2003-02-21	ENSG00000204392	ENSG00000204392			13940	protein-coding gene	gene with protein product		607282	"""chromosome 6 open reading frame 28"""	C6orf28		10523320, 8428774	Standard	NM_021177		Approved	G7b, YBL026W	uc003nxg.3	Q9Y333	OTTHUMG00000031121	ENST00000375661.5:c.167C>T	6.37:g.31765655G>A	ENSP00000364813:p.Ser56Leu					LSM2_ENST00000491421.1_5'UTR	p.S56L	NM_021177.4	NP_067000.1	Q9Y333	LSM2_HUMAN			5	393	-			56					Q6FGG1	Missense_Mutation	SNP	ENST00000375661.5	37	c.167C>T	CCDS4722.1	.	.	.	.	.	.	.	.	.	.	G	35	5.507196	0.96386	.	.	ENSG00000204392	ENST00000375661	T	0.46063	0.88	5.61	5.61	0.85477	Like-Sm ribonucleoprotein (LSM) domain, eukaryotic/archaea-type (1);Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.85682	D	0.000000	T	0.52837	0.1759	.	.	.	0.80722	D	1	D	0.57571	0.98	P	0.58130	0.833	T	0.55909	-0.8066	9	0.66056	D	0.02	-12.6907	17.1255	0.86713	0.0:0.0:1.0:0.0	.	56	Q9Y333	LSM2_HUMAN	L	56	ENSP00000364813:S56L	ENSP00000364813:S56L	S	-	2	0	LSM2	31873634	1.000000	0.71417	0.988000	0.46212	0.980000	0.70556	8.768000	0.91737	2.659000	0.90383	0.491000	0.48974	TCA		0.493	LSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076205.2	NM_021177		47	154	0	0	0	0.000781405	0	47	154				
PCDHB18	54660	broad.mit.edu	37	5	140615543	140615543	+	RNA	SNP	G	G	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr5:140615543G>A	ENST00000526308.1	+	0	1606					NR_001281.1		Q96TA0	PCDBI_HUMAN	protocadherin beta 18 pseudogene						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						CATCGGCAGCGTCAGCGCTAC	0.642																																						ENST00000526308.1																			0				endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18																																														54660							g.chr5:140615543G>A	AF152528		5q31.3	2014-03-20			ENSG00000146001	ENSG00000146001		"""Cadherins / Protocadherins : Clustered"""	14548	pseudogene	pseudogene						10380929	Standard	NR_001281		Approved	PCDH-psi2	uc003ljc.1	Q96TA0	OTTHUMG00000167484		5.37:g.140615543G>A								NR_001281.1						0	1606	+								B3KTF8	RNA	SNP	ENST00000526308.1	37																																																																																						0.642	PCDHB18-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000394776.1			50	209	0	0	0	0.000781405	0	50	209				
BCOR	54880	broad.mit.edu	37	X	39932420	39932420	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chrX:39932420G>T	ENST00000378444.4	-	4	2407	c.2179C>A	c.(2179-2181)Ccc>Acc	p.P727T	BCOR_ENST00000378455.4_Missense_Mutation_p.P727T|BCOR_ENST00000342274.4_Missense_Mutation_p.P727T|BCOR_ENST00000397354.3_Missense_Mutation_p.P727T	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	727					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						ATCAACATGGGATGCACCATG	0.582			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															ENST00000342274.4				Rec	yes		X	Xp11.4	54880	"""F, N, S, T"""	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"""retinoblastoma, AML, APL(translocation)"""		0				breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						c.(2179-2181)Ccc>Acc		BCL6 corepressor							63.0	61.0	62.0					X																	39932420		2202	4300	6502	SO:0001583	missense	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39932420G>T	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.2179C>A	X.37:g.39932420G>T	ENSP00000367705:p.Pro727Thr					BCOR_ENST00000378455.4_Missense_Mutation_p.P727T|BCOR_ENST00000397354.3_Missense_Mutation_p.P727T|BCOR_ENST00000378444.4_Missense_Mutation_p.P727T	p.P727T	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN			4	2541	-			727					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	ENST00000378444.4	37	c.2179C>A	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	G	19.22	3.785880	0.70337	.	.	ENSG00000183337	ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200;ENST00000501455	T;T;T;T;T	0.22336	1.96;1.96;1.96;1.96;1.96	5.71	5.71	0.89125	.	.	.	.	.	T	0.38983	0.1061	L	0.32530	0.975	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;0.999	D;D;D;D	0.91635	0.999;0.98;0.998;0.98	T	0.19451	-1.0305	9	0.87932	D	0	-19.9283	18.8012	0.92018	0.0:0.0:1.0:0.0	.	727;727;727;727	Q6W2J9-3;Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;.;BCOR_HUMAN;.	T	727;727;727;727;727;134	ENSP00000367716:P727T;ENSP00000380512:P727T;ENSP00000367705:P727T;ENSP00000345923:P727T;ENSP00000384485:P727T	ENSP00000345923:P727T	P	-	1	0	BCOR	39817364	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.315000	0.78998	2.385000	0.81259	0.513000	0.50165	CCC		0.582	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		30	56	1	0	6.38683e-12	0.001512	3.46572e-11	30	56				
FAM81A	145773	broad.mit.edu	37	15	59806519	59806519	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr15:59806519C>A	ENST00000288228.5	+	7	869	c.682C>A	c.(682-684)Cag>Aag	p.Q228K		NM_152450.2	NP_689663.2	Q8TBF8	FA81A_HUMAN	family with sequence similarity 81, member A	228										endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						ACTCAGTAACCAGATATTATC	0.299																																						ENST00000288228.5																			0				endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						c.(682-684)Cag>Aag		family with sequence similarity 81, member A							69.0	70.0	69.0					15																	59806519		1789	4058	5847	SO:0001583	missense	145773							g.chr15:59806519C>A		CCDS45269.1	15q22.2	2012-10-02			ENSG00000157470	ENSG00000157470			28379	protein-coding gene	gene with protein product							Standard	NM_152450		Approved	MGC26690	uc002agc.2	Q8TBF8	OTTHUMG00000171915	ENST00000288228.5:c.682C>A	15.37:g.59806519C>A	ENSP00000288228:p.Gln228Lys						p.Q228K	NM_152450.2	NP_689663.2	Q8TBF8	FA81A_HUMAN			7	869	+			228						Missense_Mutation	SNP	ENST00000288228.5	37	c.682C>A	CCDS45269.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.962359	0.53400	.	.	ENSG00000157470	ENST00000288228	T	0.72835	-0.69	5.77	4.85	0.62838	.	0.089359	0.49305	D	0.000150	T	0.68943	0.3056	L	0.58101	1.795	0.35946	D	0.833559	B	0.16603	0.018	B	0.23419	0.046	T	0.73538	-0.3951	10	0.72032	D	0.01	-22.6019	14.5667	0.68182	0.0:0.8541:0.1459:0.0	.	228	Q8TBF8	FA81A_HUMAN	K	228	ENSP00000288228:Q228K	ENSP00000288228:Q228K	Q	+	1	0	FAM81A	57593811	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.619000	0.46401	1.552000	0.49463	0.655000	0.94253	CAG		0.299	FAM81A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415876.1	NM_152450		16	28	1	0	0.000308642	0.000308642	0.00153227	16	28				
BLZF1	8548	broad.mit.edu	37	1	169345895	169345895	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr1:169345895G>C	ENST00000367808.3	+	3	569	c.146G>C	c.(145-147)aGt>aCt	p.S49T	BLZF1_ENST00000367807.3_Missense_Mutation_p.S49T|BLZF1_ENST00000329281.2_Missense_Mutation_p.S49T			Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	49					cell proliferation (GO:0008283)|Golgi organization (GO:0007030)|Golgi to plasma membrane protein transport (GO:0043001)|mitotic cell cycle (GO:0000278)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					AGTCTTCAGAGTCCATGGAAG	0.438																																						ENST00000367808.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14						c.(145-147)aGt>aCt		basic leucine zipper nuclear factor 1							97.0	98.0	98.0					1																	169345895		2203	4300	6503	SO:0001583	missense	8548				cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding	g.chr1:169345895G>C	U79751	CCDS1278.1	1q24	2008-08-01	2008-08-01		ENSG00000117475	ENSG00000117475			1065	protein-coding gene	gene with protein product		608692				9129147	Standard	NM_003666		Approved	JEM-1	uc001gfy.3	Q9H2G9	OTTHUMG00000035453	ENST00000367808.3:c.146G>C	1.37:g.169345895G>C	ENSP00000356782:p.Ser49Thr					BLZF1_ENST00000329281.2_Missense_Mutation_p.S49T|BLZF1_ENST00000367807.3_Missense_Mutation_p.S49T	p.S49T			Q9H2G9	GO45_HUMAN			3	569	+	all_hematologic(923;0.208)		49					O15298|Q5T531|Q5T533|Q9GZX4	Missense_Mutation	SNP	ENST00000367808.3	37	c.146G>C	CCDS1278.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.051761	0.36181	.	.	ENSG00000117475	ENST00000367808;ENST00000329281;ENST00000367807;ENST00000420531;ENST00000426663	T;T;T;T;T	0.61274	1.08;1.08;0.12;0.33;1.07	5.31	-1.56	0.08532	.	0.419072	0.31102	N	0.008252	T	0.33789	0.0875	M	0.64997	1.995	0.31527	N	0.661648	B;B;P	0.45902	0.381;0.381;0.868	B;B;B	0.44044	0.05;0.05;0.439	T	0.37641	-0.9697	9	0.18710	T	0.47	-0.7127	10.8908	0.46994	0.3971:0.0:0.6029:0.0	.	49;49;49	A8K6R0;Q9H2G9;Q9H2G9-2	.;GO45_HUMAN;.	T	49	ENSP00000356782:S49T;ENSP00000327541:S49T;ENSP00000356781:S49T;ENSP00000414668:S49T;ENSP00000404408:S49T	ENSP00000327541:S49T	S	+	2	0	BLZF1	167612519	1.000000	0.71417	0.921000	0.36526	0.966000	0.64601	1.141000	0.31528	-0.286000	0.09076	0.591000	0.81541	AGT		0.438	BLZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086109.1	NM_003666		15	54	0	0	0	0.000422831	0	15	54				
ITPA	3704	broad.mit.edu	37	20	3193868	3193868	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr20:3193868T>G	ENST00000380113.3	+	2	312	c.120T>G	c.(118-120)atT>atG	p.I40M	ITPA_ENST00000455664.2_Missense_Mutation_p.I23M|ITPA_ENST00000483354.1_3'UTR|ITPA_ENST00000399838.3_Intron	NM_033453.3|NM_181493.2	NP_258412.1|NP_852470.1			inosine triphosphatase (nucleoside triphosphate pyrophosphatase)											autonomic_ganglia(1)|large_intestine(3)|ovary(1)|stomach(1)	6						CACAGAAAATTGACCGTATGT	0.403																																						ENST00000380113.3																			0				autonomic_ganglia(1)|large_intestine(3)|ovary(1)|stomach(1)	6						c.(118-120)atT>atG		inosine triphosphatase (nucleoside triphosphate pyrophosphatase)							189.0	182.0	184.0					20																	3193868		2203	4300	6503	SO:0001583	missense	3704				nucleotide metabolic process	cytoplasm	metal ion binding|nucleoside-triphosphate diphosphatase activity|nucleotide binding	g.chr20:3193868T>G	AF026816	CCDS13051.1, CCDS46576.1, CCDS58762.1	20p	2002-02-01			ENSG00000125877	ENSG00000125877	3.6.1.19		6176	protein-coding gene	gene with protein product		147520		C20orf37		11278832	Standard	NM_033453		Approved	HLC14-06-P, dJ794I6.3	uc002wid.4	Q9BY32	OTTHUMG00000031738	ENST00000380113.3:c.120T>G	20.37:g.3193868T>G	ENSP00000369456:p.Ile40Met					ITPA_ENST00000455664.1_Missense_Mutation_p.I23M|ITPA_ENST00000399838.3_Intron|ITPA_ENST00000483354.1_3'UTR	p.I40M	NM_033453.3	NP_258412.1	Q9BY32	ITPA_HUMAN			2	312	+			40						Missense_Mutation	SNP	ENST00000380113.3	37	c.120T>G	CCDS13051.1	.	.	.	.	.	.	.	.	.	.	T	16.30	3.083560	0.55861	.	.	ENSG00000125877	ENST00000380113;ENST00000455664	.	.	.	5.64	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.71400	0.3335	L	0.58925	1.835	0.80722	D	1	P;B	0.34639	0.461;0.025	P;B	0.55667	0.781;0.16	T	0.68659	-0.5350	9	0.38643	T	0.18	.	8.0527	0.30587	0.0:0.0907:0.0:0.9093	.	23;40	B2BCH7;Q9BY32	.;ITPA_HUMAN	M	40;23	.	ENSP00000369456:I40M	I	+	3	3	ITPA	3141868	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	2.050000	0.41297	1.008000	0.39264	0.524000	0.50904	ATT		0.403	ITPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077719.2			25	51	0	0	0	0.00047179	0	25	51				
TRIM49C	642612	broad.mit.edu	37	11	89774252	89774252	+	Missense_Mutation	SNP	G	G	A	rs201409537		TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr11:89774252G>A	ENST00000448984.1	+	8	1222	c.893G>A	c.(892-894)aGt>aAt	p.S298N	TRIM49C_ENST00000432771.1_Intron	NM_001195234.1	NP_001182163.1	P0CI26	TR49C_HUMAN	tripartite motif containing 49C	298	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.S298N(4)		endometrium(3)|kidney(1)|lung(4)	8						GAAGCCAACAGTGATATCTTT	0.323																																						ENST00000448984.1																			4	Substitution - Missense(4)	p.S298N(4)	endometrium(2)|kidney(2)	endometrium(3)|kidney(1)|lung(4)	8						c.(892-894)aGt>aAt		tripartite motif containing 49C																																				SO:0001583	missense	642612					intracellular	zinc ion binding	g.chr11:89774252G>A	BC126470	CCDS53694.1	11q14.3	2014-02-17	2012-05-18	2012-05-18	ENSG00000204449	ENSG00000204449		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	38877	protein-coding gene	gene with protein product			"""tripartite motif containing 49-like 2"""	TRIM49L2			Standard	NM_001195234		Approved		uc010rua.2	P0CI26		ENST00000448984.1:c.893G>A	11.37:g.89774252G>A	ENSP00000388299:p.Ser298Asn					TRIM49C_ENST00000432771.1_Intron	p.S298N	NM_001195234.1	NP_001182163.1	P0CI26	T49L2_HUMAN			8	1222	+			298			B30.2/SPRY.		A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Missense_Mutation	SNP	ENST00000448984.1	37	c.893G>A	CCDS53694.1	.	.	.	.	.	.	.	.	.	.	g	0.625	-0.819420	0.02776	.	.	ENSG00000204449	ENST00000448984	T	0.04809	3.55	0.823	-0.634	0.11516	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.04452	0.0122	L	0.52206	1.635	0.09310	N	1	B	0.12013	0.005	B	0.14023	0.01	T	0.43605	-0.9381	8	.	.	.	.	3.2016	0.06651	0.4432:0.0:0.5568:0.0	rs672762;rs9666958;rs16912727;rs672762	298	P0CI26	T49L2_HUMAN	N	298	ENSP00000388299:S298N	.	S	+	2	0	TRIM49L2	89413900	0.000000	0.05858	0.001000	0.08648	0.034000	0.12701	-1.058000	0.03482	-0.239000	0.09710	0.305000	0.20034	AGT		0.323	TRIM49C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395455.1	NM_001195234		4	40	0	0	0	0.000602214	0	4	40				
ING1	3621	broad.mit.edu	37	13	111368155	111368155	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr13:111368155T>G	ENST00000375774.3	+	1	827	c.365T>G	c.(364-366)gTg>gGg	p.V122G	ING1_ENST00000464141.1_Intron|ING1_ENST00000338450.7_Intron|CARS2_ENST00000535398.1_5'Flank|ING1_ENST00000333219.7_Intron|ING1_ENST00000375775.3_Intron	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	122					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell death (GO:0010941)	nucleus (GO:0005634)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GCCTGGCGGGTGTCGCCCCTG	0.721																																						ENST00000375774.3																			0				endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12						c.(364-366)gTg>gGg		inhibitor of growth family, member 1							7.0	9.0	8.0					13																	111368155		2071	4139	6210	SO:0001583	missense	3621				cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding	g.chr13:111368155T>G		CCDS9515.1, CCDS9516.1, CCDS9517.1, CCDS9518.1	13q34	2013-01-28			ENSG00000153487	ENSG00000153487		"""Zinc fingers, PHD-type"""	6062	protein-coding gene	gene with protein product	"""inhibitor of growth 1"", ""tumor suppressor ING1"", ""growth inhibitor ING1"", ""growth inhibitory protein ING1"""	601566				8944021, 9186514	Standard	NM_198219		Approved	p33ING1, p33ING1b, p24ING1c, p33, p47, p47ING1a	uc001vri.3	Q9UK53	OTTHUMG00000017346	ENST00000375774.3:c.365T>G	13.37:g.111368155T>G	ENSP00000364929:p.Val122Gly					ING1_ENST00000464141.1_Intron|ING1_ENST00000375775.3_Intron|ING1_ENST00000338450.7_Intron|ING1_ENST00000333219.7_Intron	p.V122G	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.188)		1	827	+	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		122					O00532|O43658|Q53ZR3|Q5T9G8|Q5T9G9|Q5T9H0|Q5T9H1|Q9H007|Q9HD98|Q9HD99|Q9NS83|Q9P0U6|Q9UBC6|Q9UIJ1|Q9UIJ2|Q9UIJ3|Q9UIJ4|Q9UK52	Missense_Mutation	SNP	ENST00000375774.3	37	c.365T>G	CCDS9517.1	.	.	.	.	.	.	.	.	.	.	T	11.00	1.510305	0.27036	.	.	ENSG00000153487	ENST00000375774	T	0.55413	0.52	3.48	-0.936	0.10419	.	.	.	.	.	T	0.24275	0.0588	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16988	-1.0384	9	0.87932	D	0	.	3.4405	0.07461	0.0:0.3291:0.2099:0.4611	.	122	Q9UK53	ING1_HUMAN	G	122	ENSP00000364929:V122G	ENSP00000364929:V122G	V	+	2	0	ING1	110166156	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.306000	0.08178	-0.100000	0.12241	0.418000	0.28097	GTG		0.721	ING1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045770.2	NM_005537		4	5	0	0	0	0.000274275	0	4	5				
APBA1	320	broad.mit.edu	37	9	72047505	72047505	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr9:72047505C>T	ENST00000265381.4	-	12	2611	c.2389G>A	c.(2389-2391)Gtg>Atg	p.V797M		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	797	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GGGGTGGCCACGACGCTCTGT	0.607																																						ENST00000265381.4																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						c.(2389-2391)Gtg>Atg		amyloid beta (A4) precursor protein-binding, family A, member 1							97.0	78.0	84.0					9																	72047505		2203	4300	6503	SO:0001583	missense	320				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		g.chr9:72047505C>T	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.2389G>A	9.37:g.72047505C>T	ENSP00000265381:p.Val797Met						p.V797M	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN			12	2611	-			797			PDZ 2.		O14914|O60570|Q5VYR8	Missense_Mutation	SNP	ENST00000265381.4	37	c.2389G>A	CCDS6630.1	.	.	.	.	.	.	.	.	.	.	C	33	5.214237	0.95104	.	.	ENSG00000107282	ENST00000265381	T	0.29142	1.58	5.45	5.45	0.79879	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.62024	0.2394	M	0.83852	2.665	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.66472	-0.5915	10	0.87932	D	0	-18.2567	19.6484	0.95791	0.0:1.0:0.0:0.0	.	797	Q02410	APBA1_HUMAN	M	797	ENSP00000265381:V797M	ENSP00000265381:V797M	V	-	1	0	APBA1	71237325	1.000000	0.71417	0.913000	0.36048	0.989000	0.77384	7.769000	0.85360	2.697000	0.92050	0.643000	0.83706	GTG		0.607	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163		20	38	0	0	0	0.000958276	0	20	38				
ZNF783	100289678	broad.mit.edu	37	7	148979254	148979254	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr7:148979254C>G	ENST00000434415.1	+	6	1624	c.1461C>G	c.(1459-1461)atC>atG	p.I487M	ZNF783_ENST00000489518.1_Intron	NM_001195220.1	NP_001182149.1	Q6ZMS7	ZN783_HUMAN	zinc finger family member 783	0					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			ACCAGCGCATCCACACCGGTG	0.716																																						ENST00000434415.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22						c.(1459-1461)atC>atG		zinc finger family member 783							19.0	23.0	22.0					7																	148979254		2177	4271	6448	SO:0001583	missense	100289678				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr7:148979254C>G	AK131504	CCDS56519.1	7q36.1	2013-01-08	2008-05-28		ENSG00000204946	ENSG00000204946		"""Zinc fingers, C2H2-type"", ""-"""	27222	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001195220		Approved	DKFZp667J212	uc011kuo.2	Q6ZMS7	OTTHUMG00000158969	ENST00000434415.1:c.1461C>G	7.37:g.148979254C>G	ENSP00000410890:p.Ile487Met					ZNF783_ENST00000489518.1_Intron	p.I487M	NM_001195220.1	NP_001182149.1	C9J9J2	C9J9J2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0014)		6	1624	+	Melanoma(164;0.15)		487					C9J9J2	Missense_Mutation	SNP	ENST00000434415.1	37	c.1461C>G	CCDS56519.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.283257	0.59867	.	.	ENSG00000204946	ENST00000434415	T	0.18810	2.19	4.37	4.37	0.52481	.	.	.	.	.	T	0.29126	0.0724	L	0.37897	1.145	0.80722	D	1	.	.	.	.	.	.	T	0.03287	-1.1052	7	0.72032	D	0.01	.	14.7871	0.69810	0.0:1.0:0.0:0.0	.	.	.	.	M	487	ENSP00000410890:I487M	ENSP00000410890:I487M	I	+	3	3	ZNF783	148610187	0.001000	0.12720	1.000000	0.80357	0.774000	0.43823	-0.017000	0.12590	2.447000	0.82792	0.462000	0.41574	ATC		0.716	ZNF783-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352715.1	NM_001195220		10	34	0	0	0	0.000978159	0	10	34				
TSC22D1	8848	broad.mit.edu	37	13	45010654	45010654	+	Intron	SNP	C	C	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr13:45010654C>T	ENST00000458659.2	-	2	3403				TSC22D1_ENST00000261489.2_Silent_p.V37V|TSC22D1_ENST00000501704.2_Intron|RP11-71C5.2_ENST00000426579.2_RNA	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1						negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		TATCAAGTCTCACAGAAGCGT	0.383																																						ENST00000261489.2																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(109-111)gtG>gtA		TSC22 domain family, member 1							131.0	145.0	140.0					13																	45010654		2203	4300	6503	SO:0001627	intron_variant	8848				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr13:45010654C>T	AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"""transforming growth factor beta 1 induced transcript 4"""	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.2913-423G>A	13.37:g.45010654C>T						TSC22D1_ENST00000501704.2_Intron|TSC22D1_ENST00000458659.2_Intron	p.V37V	NM_006022.3	NP_006013.1	Q15714	T22D1_HUMAN		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)	1	327	-		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)	832					B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Silent	SNP	ENST00000458659.2	37	c.111G>A	CCDS31966.1																																																																																				0.383	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2	NM_006022		28	158	0	0	0	0.00106085	0	28	158				
OR2C1	4993	broad.mit.edu	37	16	3406177	3406177	+	Silent	SNP	C	C	G			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr16:3406177C>G	ENST00000304936.2	+	1	289	c.237C>G	c.(235-237)ccC>ccG	p.P79P		NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C, member 1	79					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)	cell cortex (GO:0005938)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GTTCAGTCCCCCAAATGCTGA	0.547																																						ENST00000304936.2																			0				kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(235-237)ccC>ccG		olfactory receptor, family 2, subfamily C, member 1							120.0	101.0	107.0					16																	3406177		2197	4300	6497	SO:0001819	synonymous_variant	4993				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr16:3406177C>G	AF098664	CCDS10502.1	16p13.3	2012-08-09			ENSG00000168158	ENSG00000168158		"""GPCR / Class A : Olfactory receptors"""	8242	protein-coding gene	gene with protein product				OR2C2P		9847080	Standard	NM_012368		Approved	OLFmf3	uc002cuw.1	O95371	OTTHUMG00000090505	ENST00000304936.2:c.237C>G	16.37:g.3406177C>G							p.P79P	NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN			1	289	+			79					A0AVA4|Q6IF34|Q6IF55	Silent	SNP	ENST00000304936.2	37	c.237C>G	CCDS10502.1																																																																																				0.547	OR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206993.3			56	44	0	0	0	0.000781405	0	56	44				
PHF21A	51317	broad.mit.edu	37	11	45967551	45967551	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr11:45967551C>T	ENST00000418153.2	-	14	1488	c.1289G>A	c.(1288-1290)cGt>cAt	p.R430H	PHF21A_ENST00000527753.1_Intron|PHF21A_ENST00000323180.6_Intron|PHF21A_ENST00000257821.4_Missense_Mutation_p.R431H			Q96BD5	PF21A_HUMAN	PHD finger protein 21A	430					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						TTTTGGAGGACGACCTATATA	0.488																																						ENST00000257821.4																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						c.(1291-1293)cGt>cAt		PHD finger protein 21A							115.0	122.0	119.0					11																	45967551		2202	4299	6501	SO:0001583	missense	51317				blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding	g.chr11:45967551C>T	AL359593	CCDS31474.1, CCDS44578.1	11p11.2	2013-01-28			ENSG00000135365	ENSG00000135365		"""Zinc fingers, PHD-type"""	24156	protein-coding gene	gene with protein product		608325				11214970, 12032298	Standard	NM_001101802		Approved	BHC80, KIAA1696, BM-006	uc001ncc.4	Q96BD5	OTTHUMG00000167038	ENST00000418153.2:c.1289G>A	11.37:g.45967551C>T	ENSP00000398824:p.Arg430His					PHF21A_ENST00000418153.2_Missense_Mutation_p.R430H|PHF21A_ENST00000527753.1_Intron|PHF21A_ENST00000323180.6_Intron	p.R431H	NM_001101802.1	NP_001095272.1	Q96BD5	PF21A_HUMAN			14	1915	-			430					D3DQP5|Q6AWA2|Q9C0G7|Q9H8V9|Q9HAK6|Q9NZE9	Missense_Mutation	SNP	ENST00000418153.2	37	c.1292G>A	CCDS44578.1	.	.	.	.	.	.	.	.	.	.	C	32	5.159125	0.94686	.	.	ENSG00000135365	ENST00000257821;ENST00000418153	D;D	0.94046	-3.34;-3.3	5.94	5.94	0.96194	AT hook, DNA-binding motif (2);	0.097855	0.64402	D	0.000001	D	0.91267	0.7247	N	0.19112	0.55	0.80722	D	1	P;P	0.50617	0.937;0.883	P;B	0.48425	0.577;0.359	D	0.91119	0.4928	10	0.45353	T	0.12	-5.6851	20.3736	0.98901	0.0:1.0:0.0:0.0	.	430;431	Q96BD5;Q96BD5-3	PF21A_HUMAN;.	H	431;430	ENSP00000257821:R431H;ENSP00000398824:R430H	ENSP00000257821:R431H	R	-	2	0	PHF21A	45924127	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.202000	0.77856	2.820000	0.97059	0.650000	0.86243	CGT		0.488	PHF21A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392583.1	NM_016621		20	72	0	0	0	0.00278032	0	20	72				
NCBP2	22916	broad.mit.edu	37	3	196664503	196664503	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr3:196664503C>G	ENST00000321256.5	-	3	370	c.277G>C	c.(277-279)Gat>Cat	p.D93H	NCBP2_ENST00000467803.1_5'UTR|NCBP2_ENST00000422610.1_Missense_Mutation_p.D23H|NCBP2_ENST00000447325.1_Missense_Mutation_p.D23H|NCBP2-AS1_ENST00000447775.1_RNA|NCBP2_ENST00000427641.2_Splice_Site|NCBP2_ENST00000452404.2_Missense_Mutation_p.D75H	NM_007362.3	NP_031388.2	P52298	NCBP2_HUMAN	nuclear cap binding protein subunit 2, 20kDa	93	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of RNA export from nucleus (GO:0046833)|positive regulation of viral transcription (GO:0050434)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|snRNA export from nucleus (GO:0006408)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mRNA cap binding complex (GO:0005845)|nuclear cap binding complex (GO:0005846)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|RNA cap binding (GO:0000339)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.42e-24)|all cancers(36;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(49;4.13e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00551)		TTTTCCGCATCTGCGCGTGAG	0.448																																						ENST00000447325.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5						c.(67-69)Gat>Cat		nuclear cap binding protein subunit 2, 20kDa							106.0	99.0	102.0					3																	196664503		2203	4300	6503	SO:0001583	missense	22916				gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of RNA export from nucleus|positive regulation of viral transcription|regulation of translational initiation|snRNA export from nucleus|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm	nucleotide binding|protein binding|RNA 7-methylguanosine cap binding	g.chr3:196664503C>G	D59253	CCDS3323.1, CCDS46986.1	3q29	2013-02-12	2002-08-29		ENSG00000114503	ENSG00000114503		"""RNA binding motif (RRM) containing"""	7659	protein-coding gene	gene with protein product		605133	"""nuclear cap binding protein subunit 2, 20kD"""			7478990, 7651522, 8682299	Standard	NM_001042540		Approved	NIP1, CBP20, Cbc2	uc003fxd.1	P52298	OTTHUMG00000155520	ENST00000321256.5:c.277G>C	3.37:g.196664503C>G	ENSP00000326806:p.Asp93His					NCBP2_ENST00000467803.1_5'UTR|NCBP2_ENST00000452404.2_Missense_Mutation_p.D75H|NCBP2_ENST00000427641.2_Splice_Site|NCBP2_ENST00000321256.5_Missense_Mutation_p.D93H|NCBP2_ENST00000422610.1_Missense_Mutation_p.D23H	p.D23H			P52298	NCBP2_HUMAN	Epithelial(36;3.42e-24)|all cancers(36;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(49;4.13e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00551)	3	416	-	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		93					B2RE91|B4DMK7|E9PAR5|Q14924|Q2TS50	Missense_Mutation	SNP	ENST00000321256.5	37	c.67G>C	CCDS3323.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.26|19.26	3.793529|3.793529	0.70452|0.70452	.|.	.|.	ENSG00000114503|ENSG00000114503	ENST00000427641|ENST00000447325;ENST00000321256;ENST00000452404;ENST00000422610;ENST00000411704	.|T;T;T;T;T	.|0.77877	.|-1.13;-1.13;-1.13;-1.13;-1.13	4.7|4.7	4.7|4.7	0.59300|0.59300	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	.|0.232817	.|0.42821	.|D	.|0.000643	.|D	.|0.85600	.|0.5734	M|M	0.70595|0.70595	2.14|2.14	0.80722|0.80722	D|D	1|1	.|P;D	.|0.61697	.|0.913;0.99	.|P;P	.|0.59487	.|0.603;0.858	.|D	.|0.87487	.|0.2424	.|10	.|0.87932	.|D	.|0	.|.	17.1888|17.1888	0.86873|0.86873	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|75;93	.|P52298-2;P52298	.|.;NCBP2_HUMAN	.|H	-1|23;93;75;23;23	.|ENSP00000413518:D23H;ENSP00000326806:D93H;ENSP00000412785:D75H;ENSP00000394105:D23H;ENSP00000389315:D23H	.|ENSP00000326806:D93H	.|D	-|-	.|1	.|0	NCBP2|NCBP2	198148900|198148900	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.879000|0.879000	0.50718|0.50718	5.840000|5.840000	0.69402|0.69402	2.618000|2.618000	0.88619|0.88619	0.655000|0.655000	0.94253|0.94253	.|GAT		0.448	NCBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340470.2	NM_007362		21	77	0	0	0	0.00229938	0	21	77				
ZNF596	169270	broad.mit.edu	37	8	196070	196070	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr8:196070G>A	ENST00000398612.1	+	6	1606	c.1223G>A	c.(1222-1224)cGa>cAa	p.R408Q	ZNF596_ENST00000308811.4_Missense_Mutation_p.R408Q|ZNF596_ENST00000320552.2_Missense_Mutation_p.R338Q	NM_001042415.1|NM_001042416.1	NP_001035880.1|NP_001035881.1	Q8TC21	ZN596_HUMAN	zinc finger protein 596	408					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R408Q(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(5)	14		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		GACCTCAGACGACATGAGAGA	0.438																																						ENST00000398612.1																			1	Substitution - Missense(1)	p.R408Q(1)	large_intestine(1)	autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(5)	14						c.(1222-1224)cGa>cAa		zinc finger protein 596							110.0	98.0	102.0					8																	196070		2203	4300	6503	SO:0001583	missense	169270				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:196070G>A	BC026190	CCDS5951.2	8p23.3	2013-01-08			ENSG00000172748	ENSG00000172748		"""Zinc fingers, C2H2-type"", ""-"""	27268	protein-coding gene	gene with protein product						12477932	Standard	NM_001287256		Approved		uc003wot.3	Q8TC21	OTTHUMG00000086931	ENST00000398612.1:c.1223G>A	8.37:g.196070G>A	ENSP00000381613:p.Arg408Gln					ZNF596_ENST00000308811.4_Missense_Mutation_p.R408Q|ZNF596_ENST00000320552.2_Missense_Mutation_p.R338Q	p.R408Q	NM_001042415.1|NM_001042416.1	NP_001035880.1|NP_001035881.1	Q8TC21	ZN596_HUMAN		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)	6	1606	+		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)	408					B2R8P4|O95015|Q8N9X0	Missense_Mutation	SNP	ENST00000398612.1	37	c.1223G>A	CCDS5951.2	.	.	.	.	.	.	.	.	.	.	.	0.786	-0.760449	0.02996	.	.	ENSG00000172748	ENST00000308811;ENST00000320552;ENST00000398612	T;T;T	0.07216	3.21;3.21;3.21	2.62	-0.845	0.10737	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05135	0.0137	N	0.20328	0.56	0.09310	N	1	D	0.60575	0.988	P	0.47705	0.555	T	0.23726	-1.0180	9	0.10377	T	0.69	.	3.278	0.06906	0.3113:0.0:0.4939:0.1947	.	408	Q8TC21	ZN596_HUMAN	Q	408;338;408	ENSP00000310033:R408Q;ENSP00000318719:R338Q;ENSP00000381613:R408Q	ENSP00000310033:R408Q	R	+	2	0	ZNF596	186070	0.000000	0.05858	0.000000	0.03702	0.066000	0.16364	-3.424000	0.00475	-0.211000	0.10124	0.655000	0.94253	CGA		0.438	ZNF596-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195858.4	NM_173539		20	38	0	0	0	0.00121646	0	20	38				
SERPINI2	5276	broad.mit.edu	37	3	167183382	167183382	+	Silent	SNP	T	T	C			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr3:167183382T>C	ENST00000476257.1	-	5	856	c.558A>G	c.(556-558)aaA>aaG	p.K186K	SERPINI2_ENST00000461846.1_Silent_p.K186K|SERPINI2_ENST00000471111.1_Silent_p.K186K|SERPINI2_ENST00000264677.4_Silent_p.K186K			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	186					cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						TCCAATCTCCTTTGAAATAAA	0.393																																						ENST00000476257.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						c.(556-558)aaA>aaG		serpin peptidase inhibitor, clade I (pancpin), member 2							65.0	64.0	64.0					3																	167183382		2203	4300	6503	SO:0001819	synonymous_variant	5276				cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:167183382T>C	AB006423	CCDS3200.1, CCDS75047.1	3q26.1	2014-02-18	2005-08-18		ENSG00000114204	ENSG00000114204		"""Serine (or cysteine) peptidase inhibitors"""	8945	protein-coding gene	gene with protein product		605587	"""serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 2"", ""serine (or cysteine) proteinase inhibitor, clade I (pancpin), member 2"""	PI14		9624529, 24172014	Standard	NM_006217		Approved	PANCPIN, TSA2004, MEPI, pancpin	uc003fes.2	O75830	OTTHUMG00000158231	ENST00000476257.1:c.558A>G	3.37:g.167183382T>C						SERPINI2_ENST00000471111.1_Silent_p.K186K|SERPINI2_ENST00000461846.1_Silent_p.K186K|SERPINI2_ENST00000264677.4_Silent_p.K186K	p.K186K			O75830	SPI2_HUMAN			5	856	-			186						Silent	SNP	ENST00000476257.1	37	c.558A>G	CCDS3200.1																																																																																				0.393	SERPINI2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350450.1	NM_006217		16	34	0	0	0	0.000308642	0	16	34				
TP53	7157	broad.mit.edu	37	17	7579575	7579575	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr17:7579575G>A	ENST00000269305.4	-	4	301	c.112C>T	c.(112-114)Caa>Taa	p.Q38*	TP53_ENST00000413465.2_Nonsense_Mutation_p.Q38*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q38*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q38*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q38*|TP53_ENST00000420246.2_Nonsense_Mutation_p.Q38*	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	38	Interaction with HRMT1L2.|Transcription activation (acidic).				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.Q38*(8)|p.0?(8)|p.P36fs*4(3)|p.?(1)|p.S33fs*23(1)|p.P13fs*18(1)|p.S37fs*79(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)	TCCATTGCTTGGGACGGCAAG	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"""		23	Substitution - Nonsense(8)|Whole gene deletion(8)|Deletion - Frameshift(6)|Unknown(1)	p.Q38*(8)|p.0?(8)|p.P36fs*4(3)|p.?(1)|p.S33fs*23(1)|p.P13fs*18(1)|p.S37fs*79(1)	lung(4)|prostate(4)|bone(4)|ovary(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|oesophagus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(112-114)Caa>Taa	Other conserved DNA damage response genes	tumor protein p53							159.0	156.0	157.0					17																	7579575		2203	4300	6503	SO:0001587	stop_gained	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.chr17:7579575G>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.112C>T	17.37:g.7579575G>A	ENSP00000269305:p.Gln38*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Nonsense_Mutation_p.Q38*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q38*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q38*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q38*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q38*	p.Q38*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	244	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	38			Interaction with HRMT1L2.|Transcription activation (acidic).		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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.112C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	14.56	2.571091	0.45798	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	3.41	-1.11	0.09840	.	3.135740	0.02989	U	0.146625	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	0.2222	0.8266	0.01122	0.224:0.1841:0.4032:0.1887	.	.	.	.	X	38	.	ENSP00000269305:Q38X	Q	-	1	0	TP53	7520300	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-0.754000	0.04787	-0.145000	0.11294	0.561000	0.74099	CAA		0.592	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		51	180	0	0	0	0.000781405	0	51	180				
HP	3240	broad.mit.edu	37	16	72094489	72094489	+	Silent	SNP	C	C	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr16:72094489C>T	ENST00000355906.5	+	7	979	c.921C>T	c.(919-921)gaC>gaT	p.D307D	HP_ENST00000398131.2_Silent_p.D248D|HP_ENST00000570083.1_Silent_p.D248D|HPR_ENST00000540303.2_5'Flank|HP_ENST00000357763.4_Silent_p.D343D|HP_ENST00000565574.1_Silent_p.D248D|HPR_ENST00000561690.1_5'Flank|HPR_ENST00000356967.5_Intron|HP_ENST00000562526.1_Intron	NM_005143.3	NP_005134.1	P00738	HPT_HUMAN	haptoglobin	307	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acute-phase response (GO:0006953)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|immune system process (GO:0002376)|negative regulation of hydrogen peroxide catabolic process (GO:2000296)|negative regulation of oxidoreductase activity (GO:0051354)|positive regulation of cell death (GO:0010942)|response to hydrogen peroxide (GO:0042542)	blood microparticle (GO:0072562)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|haptoglobin-hemoglobin complex (GO:0031838)	antioxidant activity (GO:0016209)|hemoglobin binding (GO:0030492)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		CTGACCAAGACCAATGCATAA	0.493																																						ENST00000355906.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7						c.(919-921)gaC>gaT		haptoglobin							74.0	75.0	75.0					16																	72094489		1978	4159	6137	SO:0001819	synonymous_variant	3240				cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide	extracellular region|haptoglobin-hemoglobin complex	hemoglobin binding|serine-type endopeptidase activity	g.chr16:72094489C>T		CCDS45524.1, CCDS45525.1	16q22.2	2012-10-02			ENSG00000257017	ENSG00000257017			5141	protein-coding gene	gene with protein product		140100				11109501, 9352226	Standard	NM_005143		Approved		uc002fbr.4	P00738		ENST00000355906.5:c.921C>T	16.37:g.72094489C>T						HP_ENST00000562526.1_Intron|HP_ENST00000398131.2_Silent_p.D248D|HPR_ENST00000356967.5_Intron|HP_ENST00000570083.1_Silent_p.D248D|HP_ENST00000565574.1_Silent_p.D248D	p.D307D	NM_005143.3	NP_005134.1	P00738	HPT_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)	7	979	+		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)	307			Peptidase S1.		B0AZL5|P00737|Q0VAC4|Q0VAC5|Q2PP15|Q3B7J0|Q6LBY9|Q9UC67	Silent	SNP	ENST00000355906.5	37	c.921C>T	CCDS45524.1																																																																																				0.493	HP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421680.1	NM_005143		15	42	0	0	0	0.00244969	0	15	42				
BAZ1B	9031	broad.mit.edu	37	7	72884760	72884760	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr7:72884760C>A	ENST00000339594.4	-	8	2985	c.2647G>T	c.(2647-2649)Gct>Tct	p.A883S	BAZ1B_ENST00000404251.1_Missense_Mutation_p.A883S	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	883					cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				GCTTTCTCAGCAGCTGCTTTG	0.428																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)	ENST00000339594.4																			0				NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(2647-2649)Gct>Tct		bromodomain adjacent to zinc finger domain, 1B							187.0	156.0	167.0					7																	72884760		2203	4300	6503	SO:0001583	missense	9031				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding	g.chr7:72884760C>A	AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.2647G>T	7.37:g.72884760C>A	ENSP00000342434:p.Ala883Ser					BAZ1B_ENST00000404251.1_Missense_Mutation_p.A883S	p.A883S	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN			8	2985	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	883					B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	ENST00000339594.4	37	c.2647G>T	CCDS5549.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.389581	0.61956	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.59502	0.26;0.26	5.31	5.31	0.75309	.	0.104953	0.64402	D	0.000003	T	0.48750	0.1517	L	0.47716	1.5	0.43313	D	0.995328	P	0.39809	0.689	B	0.36378	0.223	T	0.47289	-0.9129	10	0.08599	T	0.76	-17.1949	17.9564	0.89070	0.0:1.0:0.0:0.0	.	883	Q9UIG0	BAZ1B_HUMAN	S	883	ENSP00000342434:A883S;ENSP00000385442:A883S	ENSP00000342434:A883S	A	-	1	0	BAZ1B	72522696	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	4.534000	0.60622	2.509000	0.84616	0.650000	0.86243	GCT		0.428	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408		34	55	1	0	3.11337e-16	0.00283554	1.77184e-15	34	55				
MAP2	4133	broad.mit.edu	37	2	210518097	210518097	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr2:210518097C>G	ENST00000360351.4	+	4	709	c.203C>G	c.(202-204)tCa>tGa	p.S68*	MAP2_ENST00000392194.1_Nonsense_Mutation_p.S68*|MAP2_ENST00000447185.1_Nonsense_Mutation_p.S68*|MAP2_ENST00000199940.6_Nonsense_Mutation_p.S68*|MAP2_ENST00000361559.4_Nonsense_Mutation_p.S68*	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	68					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	GGCACCTATTCAAATACCAAA	0.532																																					Pancreas(27;423 979 28787 29963)	ENST00000360351.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124						c.(202-204)tCa>tGa		microtubule-associated protein 2	Estramustine(DB01196)						102.0	100.0	101.0					2																	210518097		2203	4300	6503	SO:0001587	stop_gained	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210518097C>G		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.203C>G	2.37:g.210518097C>G	ENSP00000353508:p.Ser68*					MAP2_ENST00000361559.4_Nonsense_Mutation_p.S68*|MAP2_ENST00000199940.6_Nonsense_Mutation_p.S68*|MAP2_ENST00000447185.1_Nonsense_Mutation_p.S68*|MAP2_ENST00000392194.1_Nonsense_Mutation_p.S68*	p.S68*	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	4	709	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	68					Q17S04|Q8IUX2|Q99975|Q99976	Nonsense_Mutation	SNP	ENST00000360351.4	37	c.203C>G	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	C	37	6.140444	0.97320	.	.	ENSG00000078018	ENST00000199940;ENST00000392193;ENST00000360351;ENST00000361559;ENST00000445941;ENST00000392194;ENST00000447185	.	.	.	5.29	5.29	0.74685	.	0.564208	0.15014	N	0.285413	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-11.4232	17.9193	0.88961	0.0:1.0:0.0:0.0	.	.	.	.	X	68	.	ENSP00000199940:S68X	S	+	2	0	MAP2	210226342	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	3.684000	0.54671	2.471000	0.83476	0.643000	0.83706	TCA		0.532	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		23	52	0	0	0	0.00188189	0	23	52				
TADA2A	6871	broad.mit.edu	37	17	35800747	35800747	+	Silent	SNP	A	A	G			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr17:35800747A>G	ENST00000394395.2	+	6	599	c.426A>G	c.(424-426)acA>acG	p.T142T	TADA2A_ENST00000225396.6_Silent_p.T142T|TADA2A_ENST00000417170.1_Silent_p.T142T|TADA2A_ENST00000591992.1_3'UTR|TADA2A_ENST00000586023.1_Silent_p.T142T	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	142					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|zinc ion binding (GO:0008270)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						CTGCTGACACAGCCATTCCAT	0.423																																						ENST00000394395.2																			0				breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						c.(424-426)acA>acG		transcriptional adaptor 2A							85.0	79.0	81.0					17																	35800747		2203	4300	6503	SO:0001819	synonymous_variant	6871				histone H3 acetylation|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding	g.chr17:35800747A>G	AK022767	CCDS11319.1, CCDS45656.1	17q12-q21	2014-04-10	2009-10-02	2009-10-02	ENSG00000108264	ENSG00000276234			11531	protein-coding gene	gene with protein product		602276	"""transcriptional adaptor 2 (ADA2 homolog, yeast)-like"""	TADA2L		8552087	Standard	XM_006722043		Approved	ADA2, hADA2, ADA2A	uc002hnt.3	O75478	OTTHUMG00000188469	ENST00000394395.2:c.426A>G	17.37:g.35800747A>G						TADA2A_ENST00000417170.1_Silent_p.T142T|TADA2A_ENST00000586023.1_Silent_p.T142T|TADA2A_ENST00000225396.6_Silent_p.T142T|TADA2A_ENST00000591992.1_3'UTR	p.T142T	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN			6	599	+			142					A8MVD0|B3KMU9|Q9BVJ0|Q9UCW2|Q9UP49	Silent	SNP	ENST00000394395.2	37	c.426A>G	CCDS11319.1																																																																																				0.423	TADA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256677.3	NM_001488		5	37	0	0	0	0.000602214	0	5	37				
OR1N2	138882	broad.mit.edu	37	9	125316206	125316206	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr9:125316206A>C	ENST00000373688.2	+	1	816	c.758A>C	c.(757-759)aAg>aCg	p.K253T		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	253						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						GGGAGATGGAAGGCCTTCTCT	0.498																																						ENST00000373688.2																			0				breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						c.(757-759)aAg>aCg		olfactory receptor, family 1, subfamily N, member 2							268.0	264.0	265.0					9																	125316206		2203	4300	6503	SO:0001583	missense	138882				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125316206A>C		CCDS35123.1	9q33.2	2013-09-20			ENSG00000171501	ENSG00000171501		"""GPCR / Class A : Olfactory receptors"""	15111	protein-coding gene	gene with protein product							Standard	NM_001004457		Approved		uc011lyx.2	Q8NGR9	OTTHUMG00000020607	ENST00000373688.2:c.758A>C	9.37:g.125316206A>C	ENSP00000362792:p.Lys253Thr						p.K253T	NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN			1	816	+			253					A3KFM2|B2RNY4|Q6IF17|Q96RA3	Missense_Mutation	SNP	ENST00000373688.2	37	c.758A>C	CCDS35123.1	.	.	.	.	.	.	.	.	.	.	A	17.86	3.491914	0.64074	.	.	ENSG00000171501	ENST00000373688	T	0.00375	7.71	4.56	4.56	0.56223	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000134	T	0.01558	0.0050	H	0.95816	3.725	0.45837	D	0.998709	D	0.76494	0.999	D	0.87578	0.998	T	0.33650	-0.9860	10	0.87932	D	0	.	13.1813	0.59655	1.0:0.0:0.0:0.0	.	253	Q8NGR9	OR1N2_HUMAN	T	253	ENSP00000362792:K253T	ENSP00000362792:K253T	K	+	2	0	OR1N2	124356027	1.000000	0.71417	0.877000	0.34402	0.465000	0.32709	4.155000	0.58131	1.933000	0.56026	0.524000	0.50904	AAG		0.498	OR1N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053937.2			54	125	0	0	0	0.000781405	0	54	125				
ZNF451	26036	broad.mit.edu	37	6	56993596	56993596	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr6:56993596G>A	ENST00000370706.4	+	5	626	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K	RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.E128K|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.E128K|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	128					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TTCTGATACAGAAGCAGCAAG	0.373																																						ENST00000370706.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(382-384)Gaa>Aaa		zinc finger protein 451							99.0	93.0	95.0					6																	56993596		2203	4300	6503	SO:0001583	missense	26036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:56993596G>A	AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"""Zinc fingers, C2H2-type"""	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.382G>A	6.37:g.56993596G>A	ENSP00000359740:p.Glu128Lys					RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.E128K|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|ZNF451_ENST00000370711.5_3'UTR|ZNF451_ENST00000357489.3_Missense_Mutation_p.E128K	p.E128K	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		5	626	+	Lung NSC(77;0.145)		128					Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Missense_Mutation	SNP	ENST00000370706.4	37	c.382G>A	CCDS43477.1	.	.	.	.	.	.	.	.	.	.	G	33	5.260811	0.95368	.	.	ENSG00000112200	ENST00000510483;ENST00000370706;ENST00000357489;ENST00000491832	T;T;T;T	0.06933	3.24;3.24;3.24;3.24	4.94	4.94	0.65067	.	0.065823	0.64402	D	0.000010	T	0.18045	0.0433	L	0.57536	1.79	0.80722	D	1	D;D;D;D	0.71674	0.998;0.997;0.992;0.997	D;D;P;D	0.70487	0.969;0.931;0.724;0.931	T	0.00918	-1.1515	10	0.62326	D	0.03	-19.2976	17.7685	0.88485	0.0:0.0:1.0:0.0	.	128;128;128;128	Q9Y4E5-2;Q9Y4E5;E9PH99;Q4KMR5	.;ZN451_HUMAN;.;.	K	100;128;128;128	ENSP00000427558:E100K;ENSP00000359740:E128K;ENSP00000350083:E128K;ENSP00000421645:E128K	ENSP00000350083:E128K	E	+	1	0	ZNF451	57101555	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.192000	0.65115	2.282000	0.76494	0.655000	0.94253	GAA		0.373	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2	NM_015555		24	48	0	0	0	0.000720815	0	24	48				
MUC16	94025	broad.mit.edu	37	19	9048464	9048464	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr19:9048464C>A	ENST00000397910.4	-	5	33370	c.33167G>T	c.(33166-33168)aGt>aTt	p.S11056I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11058	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTTGGAATACTTGTACTGTT	0.498																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(33166-33168)aGt>aTt		mucin 16, cell surface associated							89.0	80.0	83.0					19																	9048464		1902	4124	6026	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9048464C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.33167G>T	19.37:g.9048464C>A	ENSP00000381008:p.Ser11056Ile						p.S11056I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			5	33370	-			11058			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.33167G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	0.011	-1.730937	0.00687	.	.	ENSG00000181143	ENST00000397910	T	0.02682	4.2	2.75	-3.23	0.05109	.	.	.	.	.	T	0.01523	0.0049	N	0.08118	0	.	.	.	B	0.10296	0.003	B	0.14023	0.01	T	0.46190	-0.9209	8	0.87932	D	0	.	3.796	0.08740	0.3432:0.3913:0.2655:0.0	.	11056	B5ME49	.	I	11056	ENSP00000381008:S11056I	ENSP00000381008:S11056I	S	-	2	0	MUC16	8909464	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.475000	0.02335	-0.635000	0.05531	-0.494000	0.04653	AGT		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		30	118	1	0	7.26314e-15	0.00127121	4.03508e-14	30	118				
WSCD2	9671	broad.mit.edu	37	12	108618515	108618515	+	Splice_Site	SNP	G	G	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr12:108618515G>T	ENST00000332082.4	+	6	1500		c.e6-1		WSCD2_ENST00000547525.1_Splice_Site|WSCD2_ENST00000549903.1_Splice_Site|WSCD2_ENST00000261400.3_Splice_Site			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2							integral component of membrane (GO:0016021)		p.?(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						TGGCTCTTCAGATGGAAGTGC	0.517																																						ENST00000332082.4																			1	Unknown(1)	p.?(1)	skin(1)	breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						c.e6-1		WSC domain containing 2							74.0	77.0	76.0					12																	108618515		1924	4135	6059	SO:0001630	splice_region_variant	9671					integral to membrane		g.chr12:108618515G>T		CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.683-1G>T	12.37:g.108618515G>T						WSCD2_ENST00000547525.1_Splice_Site|WSCD2_ENST00000261400.3_Splice_Site|WSCD2_ENST00000549903.1_Splice_Site				Q2TBF2	WSCD2_HUMAN			6	1500	+								B2RN48|B4DES1|Q8IY35|Q9Y4B7	Splice_Site	SNP	ENST00000332082.4	37		CCDS41828.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.514756	0.85389	.	.	ENSG00000075035	ENST00000547525;ENST00000261400;ENST00000551638;ENST00000332082;ENST00000549903	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8977	0.88893	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WSCD2	107142645	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	9.537000	0.98070	2.804000	0.96469	0.655000	0.94253	.		0.517	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405554.1	NM_014653	Intron	22	86	1	0	9.95505e-16	0.00229938	5.57483e-15	22	86				
TNNT3	7140	broad.mit.edu	37	11	1956071	1956071	+	Silent	SNP	G	G	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr11:1956071G>A	ENST00000397301.1	+	15	644	c.636G>A	c.(634-636)aaG>aaA	p.K212K	TNNT3_ENST00000446240.1_Silent_p.K182K|TNNT3_ENST00000381589.3_Silent_p.K199K|TNNT3_ENST00000397304.2_Silent_p.K182K|TNNT3_ENST00000381579.3_Silent_p.K193K|TNNT3_ENST00000381561.4_Silent_p.K204K|TNNT3_ENST00000381549.3_Silent_p.K193K|TNNT3_ENST00000493234.1_3'UTR|TNNT3_ENST00000360603.3_Silent_p.K195K|TNNT3_ENST00000381548.3_Silent_p.K203K|TNNT3_ENST00000381558.1_Silent_p.K193K|TNNT3_ENST00000278317.6_Silent_p.K201K			P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)	212					ATP catabolic process (GO:0006200)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)|regulation of striated muscle contraction (GO:0006942)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|troponin complex (GO:0005861)	calcium-dependent protein binding (GO:0048306)|tropomyosin binding (GO:0005523)|troponin C binding (GO:0030172)|troponin I binding (GO:0031013)			breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		ACAAGGCCAAGGAGCTCTGGG	0.612																																						ENST00000381558.1																			0				breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19						c.(577-579)aaG>aaA		troponin T type 3 (skeletal, fast)							130.0	141.0	138.0					11																	1956071		2202	4299	6501	SO:0001819	synonymous_variant	7140				muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding	g.chr11:1956071G>A	M21984	CCDS7727.1, CCDS41594.1, CCDS41595.1, CCDS41596.1	11p15.5	2014-09-17	2005-09-12		ENSG00000130595	ENSG00000130595			11950	protein-coding gene	gene with protein product	"""troponin-T3, skeletal, fast"""	600692	"""troponin T3, skeletal, fast"""			8172653	Standard	NM_001042782		Approved	AMCD2B, DA2B, FSSV, DKFZp779M2348	uc001lup.4	P45378	OTTHUMG00000012475	ENST00000397301.1:c.636G>A	11.37:g.1956071G>A						TNNT3_ENST00000381549.3_Silent_p.K193K|TNNT3_ENST00000493234.1_3'UTR|TNNT3_ENST00000446240.1_Silent_p.K182K|TNNT3_ENST00000381561.4_Silent_p.K204K|TNNT3_ENST00000381579.3_Silent_p.K193K|TNNT3_ENST00000397304.2_Silent_p.K182K|TNNT3_ENST00000360603.3_Silent_p.K195K|TNNT3_ENST00000381589.3_Silent_p.K199K|TNNT3_ENST00000278317.6_Silent_p.K201K|TNNT3_ENST00000397301.1_Silent_p.K212K|TNNT3_ENST00000381548.3_Silent_p.K203K	p.K193K			P45378	TNNT3_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)	13	858	+		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	212					A8MQ76|A8MSW1|B3KPX3|B7WP64|B7ZL26|B7ZVV9|Q12975|Q12976|Q12977|Q12978|Q17RG9|Q6FH29|Q6N056|Q86TH6	Silent	SNP	ENST00000397301.1	37	c.579G>A																																																																																					0.612	TNNT3-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000142920.3	NM_006757		46	149	0	0	0	0.000781405	0	46	149				
ANKHD1	54882	broad.mit.edu	37	5	139781714	139781714	+	Silent	SNP	G	G	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr5:139781714G>A	ENST00000360839.2	+	1	316	c.162G>A	c.(160-162)tcG>tcA	p.S54S	ANKHD1_ENST00000394723.3_Silent_p.S54S|ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.S54S|ANKHD1_ENST00000297183.6_Silent_p.S54S|CTC-329D1.2_ENST00000507521.1_RNA|ANKHD1_ENST00000394722.3_Silent_p.S54S	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	54	Gly-rich.					cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCAGCGTCGGGAGTcggca	0.766																																						ENST00000297183.6																			0				breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60						c.(160-162)tcG>tcA		ankyrin repeat and KH domain containing 1							5.0	8.0	7.0					5																	139781714		1989	3982	5971	SO:0001819	synonymous_variant	54882							g.chr5:139781714G>A	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.162G>A	5.37:g.139781714G>A						ANKHD1_ENST00000394722.3_Silent_p.S54S|ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.S54S|ANKHD1_ENST00000394723.3_Silent_p.S54S|ANKHD1_ENST00000360839.2_Silent_p.S54S	p.S54S	NM_020690.5	NP_065741.3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	286	+								A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Silent	SNP	ENST00000360839.2	37	c.162G>A	CCDS4225.1																																																																																				0.766	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		16	9	0	0	0	0.000566183	0	16	9				
FAM101A	144347	broad.mit.edu	37	12	124798965	124798965	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr12:124798965C>A	ENST00000389727.3	+	3	545	c.545C>A	c.(544-546)aCc>aAc	p.T182N	FAM101A_ENST00000338359.4_Missense_Mutation_p.T101N|FAM101A_ENST00000546355.1_Missense_Mutation_p.T101N|FAM101A_ENST00000324038.3_Missense_Mutation_p.T101N			Q6ZTI6	F101A_HUMAN	family with sequence similarity 101, member A	182										endometrium(1)|kidney(1)|lung(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)		TTCCGGACCACCCTGCACTGC	0.706																																						ENST00000389727.3																			0				endometrium(1)|kidney(1)|lung(1)	3						c.(544-546)aCc>aAc		family with sequence similarity 101, member A							49.0	50.0	50.0					12																	124798965		2203	4298	6501	SO:0001583	missense	144347							g.chr12:124798965C>A		CCDS9258.1	12q24.31	2012-11-30			ENSG00000178882	ENSG00000178882			27051	protein-coding gene	gene with protein product		615927				12477932	Standard	NM_181709		Approved	FLJ44614	uc001ugd.2	Q6ZTI6	OTTHUMG00000168609	ENST00000389727.3:c.545C>A	12.37:g.124798965C>A	ENSP00000374377:p.Thr182Asn					FAM101A_ENST00000324038.3_Missense_Mutation_p.T101N|FAM101A_ENST00000546355.1_Missense_Mutation_p.T101N|FAM101A_ENST00000338359.4_Missense_Mutation_p.T101N	p.T182N			Q6ZTI6	F101A_HUMAN		Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)	3	545	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		182					A5D8T5	Missense_Mutation	SNP	ENST00000389727.3	37	c.545C>A		.	.	.	.	.	.	.	.	.	.	C	24.6	4.549357	0.86127	.	.	ENSG00000178882	ENST00000324038;ENST00000389727;ENST00000546355;ENST00000338359	.	.	.	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.80014	0.4546	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.83353	-0.0002	9	0.72032	D	0.01	-14.0302	17.6332	0.88115	0.0:1.0:0.0:0.0	.	182	Q6ZTI6	F101A_HUMAN	N	101;182;101;101	.	ENSP00000315626:T101N	T	+	2	0	FAM101A	123364918	1.000000	0.71417	1.000000	0.80357	0.622000	0.37654	7.311000	0.78958	2.153000	0.67306	0.561000	0.74099	ACC		0.706	FAM101A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_181709		26	59	1	0	7.33532e-06	0.000586117	3.74797e-05	26	59				
RBP3	5949	broad.mit.edu	37	10	48388506	48388506	+	Missense_Mutation	SNP	G	G	A	rs561239259		TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr10:48388506G>A	ENST00000224600.4	-	1	2485	c.2372C>T	c.(2371-2373)aCg>aTg	p.T791M	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	791	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)	p.T791M(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CGGGATGGCCGTGGAGTAGCT	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		14510	0.0		0.0	False		,,,				2504	0.001					ENST00000224600.4																			1	Substitution - Missense(1)	p.T791M(1)	prostate(1)	central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(2371-2373)aCg>aTg		retinol binding protein 3, interstitial	Vitamin A(DB00162)						27.0	25.0	26.0					10																	48388506		2201	4299	6500	SO:0001583	missense	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48388506G>A	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.2372C>T	10.37:g.48388506G>A	ENSP00000224600:p.Thr791Met						p.T791M	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN			1	2485	-			791			4 X approximate tandem repeats.		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	ENST00000224600.4	37	c.2372C>T	CCDS7218.1	.	.	.	.	.	.	.	.	.	.	G	9.029	0.986812	0.18889	.	.	ENSG00000107618	ENST00000224600	T	0.64803	-0.12	5.48	4.52	0.55395	Interphotoreceptor retinol-binding (2);	0.213713	0.36854	N	0.002361	T	0.74427	0.3715	M	0.78456	2.415	0.41370	D	0.987483	D	0.76494	0.999	P	0.56823	0.807	T	0.79162	-0.1917	10	0.87932	D	0	-6.1372	14.1763	0.65544	0.0:0.0:0.8499:0.15	.	791	P10745	RET3_HUMAN	M	791	ENSP00000224600:T791M	ENSP00000224600:T791M	T	-	2	0	RBP3	48008512	1.000000	0.71417	0.181000	0.23098	0.021000	0.10359	7.135000	0.77276	2.595000	0.87683	0.655000	0.94253	ACG		0.622	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		8	17	0	0	0	0.000274275	0	8	17				
AK5	26289	broad.mit.edu	37	1	77984359	77984359	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr1:77984359G>T	ENST00000354567.2	+	11	1521	c.1258G>T	c.(1258-1260)Gaa>Taa	p.E420*	AK5_ENST00000344720.5_Nonsense_Mutation_p.E394*	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	420	Adenylate kinase 2.|NMPbind 2. {ECO:0000250}.				ADP biosynthetic process (GO:0006172)|ATP metabolic process (GO:0046034)|dADP biosynthetic process (GO:0006173)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|pyrimidine ribonucleotide biosynthetic process (GO:0009220)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule organizing center (GO:0005815)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside kinase activity (GO:0019206)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						ATCAGAATCTGAAAGAAGCAA	0.488																																						ENST00000344720.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						c.(1180-1182)Gaa>Taa		adenylate kinase 5							110.0	97.0	102.0					1																	77984359		2203	4300	6503	SO:0001587	stop_gained	26289				ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity	g.chr1:77984359G>T	AF062595	CCDS675.1, CCDS676.1	1p31	2008-02-05			ENSG00000154027	ENSG00000154027		"""Adenylate kinases"""	365	protein-coding gene	gene with protein product		608009				10215863	Standard	NM_012093		Approved		uc001dhn.3	Q9Y6K8	OTTHUMG00000009796	ENST00000354567.2:c.1258G>T	1.37:g.77984359G>T	ENSP00000346577:p.Glu420*					AK5_ENST00000354567.2_Nonsense_Mutation_p.E420*	p.E394*	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN			11	2206	+			420					Q5U622|Q6FH66|Q7Z4T5|Q86YS0|Q8N464|Q96EC9	Nonsense_Mutation	SNP	ENST00000354567.2	37	c.1180G>T	CCDS675.1	.	.	.	.	.	.	.	.	.	.	G	46	12.897628	0.99704	.	.	ENSG00000154027	ENST00000354567;ENST00000344720	.	.	.	5.21	5.21	0.72293	.	0.245367	0.33854	N	0.004492	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	0.4832	17.9212	0.88966	0.0:0.0:1.0:0.0	.	.	.	.	X	420;394	.	ENSP00000341430:E394X	E	+	1	0	AK5	77756947	1.000000	0.71417	0.996000	0.52242	0.666000	0.39218	7.274000	0.78538	2.601000	0.87937	0.655000	0.94253	GAA		0.488	AK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026993.4	NM_174858		19	49	1	0	1.56452e-12	0.000958276	8.55599e-12	19	49				
SDCBP	6386	broad.mit.edu	37	8	59494271	59494271	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr8:59494271T>C	ENST00000260130.4	+	9	1019	c.869T>C	c.(868-870)cTa>cCa	p.L290P	SDCBP_ENST00000413219.2_Missense_Mutation_p.L290P|SDCBP_ENST00000447182.2_Missense_Mutation_p.L289P|SDCBP_ENST00000422546.2_Missense_Mutation_p.L289P|SDCBP_ENST00000520168.1_Missense_Mutation_p.L231P|SDCBP_ENST00000424270.2_Missense_Mutation_p.L284P|SDCBP_ENST00000447267.2_Missense_Mutation_p.L236P|SDCBP_ENST00000523483.1_Missense_Mutation_p.L310P	NM_001007068.1|NM_001007069.1|NM_005625.3	NP_001007069.1|NP_001007070.1|NP_005616.2	O00560	SDCB1_HUMAN	syndecan binding protein (syntenin)	290					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|intracellular signal transduction (GO:0035556)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|protein targeting to membrane (GO:0006612)|Ras protein signal transduction (GO:0007265)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic transmission (GO:0007268)	adherens junction (GO:0005912)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-5 receptor complex (GO:0005895)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	cytoskeletal adaptor activity (GO:0008093)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|interleukin-5 receptor binding (GO:0005137)|protein heterodimerization activity (GO:0046982)|protein N-terminus binding (GO:0047485)|syndecan binding (GO:0045545)			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	8		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				ATGAAAAGCCTAATGGACCAC	0.388																																						ENST00000523483.1																			0				breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	8						c.(928-930)cTa>cCa		syndecan binding protein (syntenin)							135.0	120.0	125.0					8																	59494271		2203	4300	6503	SO:0001583	missense	6386				actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission	cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus	cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein heterodimerization activity|protein N-terminus binding|syndecan binding	g.chr8:59494271T>C	AF000652	CCDS6172.1, CCDS47862.1, CCDS47863.1	8q12.1	2012-12-04			ENSG00000137575	ENSG00000137575			10662	protein-coding gene	gene with protein product		602217				9391086	Standard	NM_001007067		Approved	SYCL	uc003xtq.3	O00560	OTTHUMG00000164303	ENST00000260130.4:c.869T>C	8.37:g.59494271T>C	ENSP00000260130:p.Leu290Pro					SDCBP_ENST00000447267.2_Missense_Mutation_p.L236P|SDCBP_ENST00000413219.2_Missense_Mutation_p.L290P|SDCBP_ENST00000424270.2_Missense_Mutation_p.L284P|SDCBP_ENST00000520168.1_Missense_Mutation_p.L231P|SDCBP_ENST00000447182.2_Missense_Mutation_p.L289P|SDCBP_ENST00000260130.4_Missense_Mutation_p.L290P|SDCBP_ENST00000422546.2_Missense_Mutation_p.L289P	p.L310P			O00560	SDCB1_HUMAN			10	2443	+		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)	290					B2R5Q7|B4DUH3|B7ZLN2|O00173|O43391|Q14CP2	Missense_Mutation	SNP	ENST00000260130.4	37	c.929T>C	CCDS6172.1	.	.	.	.	.	.	.	.	.	.	T	17.06	3.293364	0.60086	.	.	ENSG00000137575	ENST00000260130;ENST00000422546;ENST00000447182;ENST00000413219;ENST00000424270;ENST00000523483;ENST00000520168;ENST00000447267	T;T;T;T;T;T;T;T	0.18502	2.21;2.21;2.21;2.21;2.21;2.21;2.21;2.21	5.67	5.67	0.87782	PDZ/DHR/GLGF (1);	0.000000	0.64402	D	0.000003	T	0.41003	0.1140	M	0.72894	2.215	0.80722	D	1	B;D;P;P	0.58268	0.022;0.982;0.897;0.835	B;D;P;P	0.67725	0.02;0.953;0.708;0.514	T	0.12837	-1.0532	9	.	.	.	-10.1431	16.1924	0.82000	0.0:0.0:0.0:1.0	.	231;310;284;290	B4DHN5;G5EA09;O00560-3;O00560	.;.;.;SDCB1_HUMAN	P	290;289;289;290;284;310;231;236	ENSP00000260130:L290P;ENSP00000391687:L289P;ENSP00000409288:L289P;ENSP00000411771:L290P;ENSP00000395351:L284P;ENSP00000428184:L310P;ENSP00000430730:L231P;ENSP00000397820:L236P	.	L	+	2	0	SDCBP	59656825	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.780000	0.47742	2.287000	0.76781	0.482000	0.46254	CTA		0.388	SDCBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378193.1	NM_005625		3	129	0	0	0	0.000602214	0	3	129				
PARD3B	117583	broad.mit.edu	37	2	206265816	206265816	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr2:206265816G>C	ENST00000406610.2	+	19	2917	c.2710G>C	c.(2710-2712)Gag>Cag	p.E904Q	PARD3B_ENST00000351153.1_Missense_Mutation_p.E835Q|PARD3B_ENST00000349953.3_Missense_Mutation_p.E904Q|PARD3B_ENST00000358768.2_Missense_Mutation_p.E842Q	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	904					cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GAGAGAAGAAGAGCTGGAGAA	0.428																																						ENST00000406610.2																			0				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65						c.(2710-2712)Gag>Cag		par-3 family cell polarity regulator beta							80.0	80.0	80.0					2																	206265816		1890	4122	6012	SO:0001583	missense	117583				cell cycle|cell division	endomembrane system|tight junction		g.chr2:206265816G>C	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.2710G>C	2.37:g.206265816G>C	ENSP00000385848:p.Glu904Gln					PARD3B_ENST00000358768.2_Missense_Mutation_p.E842Q|PARD3B_ENST00000351153.1_Missense_Mutation_p.E835Q|PARD3B_ENST00000349953.3_Missense_Mutation_p.E904Q	p.E904Q	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN		Epithelial(149;0.0739)	19	2917	+		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)	904					E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Missense_Mutation	SNP	ENST00000406610.2	37	c.2710G>C		.	.	.	.	.	.	.	.	.	.	G	12.98	2.101073	0.37048	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000351153;ENST00000349953	T;T;T;T	0.39406	1.08;1.08;1.08;1.08	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.62060	0.2397	M	0.73217	2.22	0.39353	D	0.965789	D;D;D;P	0.71674	0.976;0.982;0.998;0.906	P;P;D;P	0.66351	0.703;0.709;0.943;0.677	T	0.60835	-0.7184	10	0.33940	T	0.23	.	17.1068	0.86665	0.0:0.0:1.0:0.0	.	904;835;842;904	Q8TEW8;E9PE87;Q8TEW8-2;Q8TEW8-5	PAR3L_HUMAN;.;.;.	Q	904;842;835;904	ENSP00000385848:E904Q;ENSP00000351618:E842Q;ENSP00000317261:E835Q;ENSP00000340280:E904Q	ENSP00000340280:E904Q	E	+	1	0	PARD3B	205974061	1.000000	0.71417	0.975000	0.42487	0.329000	0.28539	5.916000	0.69981	2.632000	0.89209	0.556000	0.70494	GAG		0.428	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177		3	13	0	0	0	0.00024832	0	3	13				
ARHGEF5	7984	broad.mit.edu	37	7	144075958	144075958	+	Splice_Site	SNP	C	C	A	rs200973815		TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr7:144075958C>A	ENST00000056217.5	+	14	4809	c.4635C>A	c.(4633-4635)gaC>gaA	p.D1545E	ARHGEF5_ENST00000471847.2_Splice_Site_p.D467E	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	1545	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					AGAGCAGTGACGGTAAGCGGG	0.592																																						ENST00000056217.5																			0				breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.e14+1		Rho guanine nucleotide exchange factor (GEF) 5							157.0	129.0	138.0					7																	144075958		2203	4300	6503	SO:0001630	splice_region_variant	7984				intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr7:144075958C>A	U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"""Rho guanine nucleotide exchange factors"""	13209	protein-coding gene	gene with protein product	"""transforming immortalized mammary oncogene"", ""guanine nucleotide regulatory protein TIM"""	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.4636+1C>A	7.37:g.144075958C>A						ARHGEF5_ENST00000471847.2_Splice_Site_p.D467_splice	p.D1545_splice	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN			14	4809	+	Melanoma(164;0.14)		1545			SH3.		A6NNJ2|Q6ZML7	Splice_Site	SNP	ENST00000056217.5	37	c.4636_splice	CCDS34771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.73|15.73	2.921081|2.921081	0.52653|0.52653	.|.	.|.	ENSG00000050327|ENSG00000050327	ENST00000056217;ENST00000344879;ENST00000471847|ENST00000474817	T;T|.	0.52057|.	0.68;0.68|.	5.91|5.91	-3.51|-3.51	0.04696|0.04696	Src homology-3 domain (4);|.	0.106709|.	0.64402|.	D|.	0.000009|.	T|T	0.56140|0.56140	0.1965|0.1965	L|L	0.49640|0.49640	1.575|1.575	0.58432|0.58432	D|D	0.99999|0.99999	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.999|.	T|T	0.55617|0.55617	-0.8113|-0.8113	10|5	0.49607|.	T|.	0.09|.	-21.839|-21.839	12.5222|12.5222	0.56067|0.56067	0.0:0.5016:0.0:0.4984|0.0:0.5016:0.0:0.4984	.|.	346;1545|.	B3KQX6;Q12774|.	.;ARHG5_HUMAN|.	E|K	1545;346;467|745	ENSP00000056217:D1545E;ENSP00000418227:D467E|.	ENSP00000056217:D1545E|.	D|T	+|+	3|2	2|0	ARHGEF5|ARHGEF5	143706891|143706891	0.161000|0.161000	0.22892|0.22892	0.964000|0.964000	0.40570|0.40570	0.231000|0.231000	0.25187|0.25187	-0.747000|-0.747000	0.04823|0.04823	-0.612000|-0.612000	0.05701|0.05701	-1.004000|-1.004000	0.02495|0.02495	GAC|ACG		0.592	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349981.1	NM_005435	Missense_Mutation	35	96	1	0	6.84511e-11	0.00058488	3.65769e-10	35	96				
HKDC1	80201	broad.mit.edu	37	10	70992576	70992576	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr10:70992576G>T	ENST00000354624.5	+	3	416	c.283G>T	c.(283-285)Gtg>Ttg	p.V95L	RP11-227H15.4_ENST00000450995.1_RNA|HKDC1_ENST00000395086.2_Missense_Mutation_p.V95L	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	95	Hexokinase type-1 1.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						AGTGCTGAAGGTGCAAGTCGC	0.502																																						ENST00000354624.5																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(283-285)Gtg>Ttg		hexokinase domain containing 1							143.0	135.0	138.0					10																	70992576		2203	4300	6503	SO:0001583	missense	80201				glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity	g.chr10:70992576G>T		CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.283G>T	10.37:g.70992576G>T	ENSP00000346643:p.Val95Leu					HKDC1_ENST00000395086.2_Missense_Mutation_p.V95L	p.V95L	NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN			3	416	+			95					B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Missense_Mutation	SNP	ENST00000354624.5	37	c.283G>T	CCDS7288.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.842504	0.91197	.	.	ENSG00000156510	ENST00000354624;ENST00000395087;ENST00000395086	D;D	0.99436	-5.9;-5.9	4.3	4.3	0.51218	Hexokinase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98934	0.9638	M	0.85299	2.745	0.58432	D	0.999999	B	0.09022	0.002	B	0.10450	0.005	D	0.99828	1.1052	10	0.87932	D	0	-22.9039	17.2766	0.87118	0.0:0.0:1.0:0.0	.	95	Q2TB90	HKDC1_HUMAN	L	95	ENSP00000346643:V95L;ENSP00000378521:V95L	ENSP00000346643:V95L	V	+	1	0	HKDC1	70662582	1.000000	0.71417	0.999000	0.59377	0.845000	0.48019	9.657000	0.98554	2.369000	0.80426	0.561000	0.74099	GTG		0.502	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048389.1	NM_025130		37	100	1	0	1.42033e-22	0.000814825	8.28527e-22	37	100				
TNKS2	80351	broad.mit.edu	37	10	93619309	93619309	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr10:93619309C>T	ENST00000371627.4	+	25	3564	c.3185C>T	c.(3184-3186)gCt>gTt	p.A1062V		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	1062	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				ATTTATTTTGCTGAAAACTCT	0.403																																						ENST00000371627.4																			0				biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48						c.(3184-3186)gCt>gTt		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2							123.0	120.0	121.0					10																	93619309		2203	4300	6503	SO:0001583	missense	80351				positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr10:93619309C>T	AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.3185C>T	10.37:g.93619309C>T	ENSP00000360689:p.Ala1062Val						p.A1062V	NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN			25	3564	+		Colorectal(252;0.162)	1062			PARP catalytic.		B2RBD3|Q9H8F2|Q9HAS4	Missense_Mutation	SNP	ENST00000371627.4	37	c.3185C>T	CCDS7417.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.498918	0.85069	.	.	ENSG00000107854	ENST00000371627	T	0.29142	1.58	5.75	5.75	0.90469	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.000000	0.64402	D	0.000011	T	0.67683	0.2919	M	0.92555	3.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75266	-0.3378	10	0.87932	D	0	.	19.9322	0.97123	0.0:1.0:0.0:0.0	.	1062	Q9H2K2	TNKS2_HUMAN	V	1062	ENSP00000360689:A1062V	ENSP00000360689:A1062V	A	+	2	0	TNKS2	93609289	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.811000	0.86092	2.720000	0.93068	0.579000	0.79373	GCT		0.403	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049374.1	NM_025235		25	62	0	0	0	0.00278032	0	25	62				
ZNF790	388536	broad.mit.edu	37	19	37309438	37309438	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr19:37309438T>A	ENST00000356725.4	-	5	1928	c.1808A>T	c.(1807-1809)aAc>aTc	p.N603I	CTD-2162K18.5_ENST00000587278.1_RNA|CTD-2162K18.5_ENST00000588906.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	603					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TTGAGCAAAGTTTGACTCATG	0.323																																						ENST00000356725.4																			0				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32						c.(1807-1809)aAc>aTc		zinc finger protein 790							99.0	104.0	102.0					19																	37309438		2203	4299	6502	SO:0001583	missense	388536				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37309438T>A	BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863		"""Zinc fingers, C2H2-type"", ""-"""	33114	protein-coding gene	gene with protein product							Standard	NM_206894		Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.1808A>T	19.37:g.37309438T>A	ENSP00000349161:p.Asn603Ile					CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	p.N603I	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		5	1928	-	Esophageal squamous(110;0.183)		603						Missense_Mutation	SNP	ENST00000356725.4	37	c.1808A>T	CCDS12496.1	.	.	.	.	.	.	.	.	.	.	T	0.061	-1.225131	0.01530	.	.	ENSG00000197863	ENST00000356725	T	0.15952	2.38	3.18	1.03	0.20045	.	.	.	.	.	T	0.13243	0.0321	L	0.35723	1.085	0.09310	N	1	B	0.23650	0.089	B	0.18561	0.022	T	0.22312	-1.0220	9	0.46703	T	0.11	.	9.1637	0.37038	0.0:0.1979:0.0:0.8021	.	603	Q6PG37	ZN790_HUMAN	I	603	ENSP00000349161:N603I	ENSP00000349161:N603I	N	-	2	0	ZNF790	42001278	0.000000	0.05858	0.000000	0.03702	0.154000	0.21943	-0.616000	0.05591	0.021000	0.15133	-1.431000	0.01090	AAC		0.323	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385341.2	NM_206894		34	94	0	0	0	0.00283554	0	34	94				
CHRD	8646	broad.mit.edu	37	3	184104380	184104380	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr3:184104380C>T	ENST00000204604.1	+	16	2279	c.2033C>T	c.(2032-2034)gCg>gTg	p.A678V	CHRD_ENST00000348986.3_Missense_Mutation_p.A638V|CHRD_ENST00000545352.1_Intron|CHRD_ENST00000450923.1_Missense_Mutation_p.A678V|EIF2B5_ENST00000444495.1_Intron	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	678					BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCCTCTGCTGCGCCGCCTGTG	0.711																																						ENST00000204604.1																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(2032-2034)gCg>gTg		chordin							6.0	7.0	7.0					3																	184104380		2027	4051	6078	SO:0001583	missense	8646				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding	g.chr3:184104380C>T	AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.2033C>T	3.37:g.184104380C>T	ENSP00000204604:p.Ala678Val					CHRD_ENST00000348986.3_Missense_Mutation_p.A638V|CHRD_ENST00000545352.1_Intron|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000450923.1_Missense_Mutation_p.A678V	p.A678V	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		16	2279	+	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		678					O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Missense_Mutation	SNP	ENST00000204604.1	37	c.2033C>T	CCDS3266.1	.	.	.	.	.	.	.	.	.	.	C	1.860	-0.462977	0.04476	.	.	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986;ENST00000342610	T;T;T	0.14144	2.75;2.53;2.53	4.46	-4.59	0.03400	.	1.072320	0.07223	N	0.861259	T	0.07369	0.0186	N	0.24115	0.695	0.09310	N	0.999999	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.04013	0.001;0.0;0.0	T	0.41752	-0.9491	10	0.21014	T	0.42	-0.0028	6.1713	0.20418	0.0:0.2198:0.254:0.5262	.	638;678;678	Q9H2X0-5;E7ESX1;Q9H2X0	.;.;CHRD_HUMAN	V	678;678;638;391	ENSP00000204604:A678V;ENSP00000408972:A678V;ENSP00000334036:A638V	ENSP00000204604:A678V	A	+	2	0	CHRD	185587074	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.846000	0.00735	-0.982000	0.03515	-0.226000	0.12346	GCG		0.711	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1	NM_003741		5	17	0	0	0	0.000602214	0	5	17				
CORIN	10699	broad.mit.edu	37	4	47605597	47605597	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr4:47605597T>C	ENST00000273857.4	-	20	2628	c.2629A>G	c.(2629-2631)Acc>Gcc	p.T877A	CORIN_ENST00000505909.1_Missense_Mutation_p.T840A|CORIN_ENST00000508498.1_Missense_Mutation_p.T738A|CORIN_ENST00000502252.1_Missense_Mutation_p.T810A	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	877	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						AGGATGATGGTCTTCACAAAG	0.488																																						ENST00000273857.4																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						c.(2629-2631)Acc>Gcc		corin, serine peptidase							153.0	127.0	136.0					4																	47605597		2203	4300	6503	SO:0001583	missense	10699				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	g.chr4:47605597T>C	AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"""Serine peptidases / Transmembrane"""	19012	protein-coding gene	gene with protein product		605236	"""corin, serine protease"""			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.2629A>G	4.37:g.47605597T>C	ENSP00000273857:p.Thr877Ala					CORIN_ENST00000502252.1_Missense_Mutation_p.T810A|CORIN_ENST00000505909.1_Missense_Mutation_p.T840A|CORIN_ENST00000508498.1_Missense_Mutation_p.T738A	p.T877A	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN			20	2628	-			877			Peptidase S1.		B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	ENST00000273857.4	37	c.2629A>G	CCDS3477.1	.	.	.	.	.	.	.	.	.	.	T	6.339	0.430577	0.12045	.	.	ENSG00000145244	ENST00000273857;ENST00000508498;ENST00000502252;ENST00000505909	T;T;T;T	0.58506	0.33;0.33;0.33;0.33	6.08	4.91	0.64330	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.396217	0.27917	N	0.017329	T	0.37945	0.1022	N	0.17248	0.465	0.80722	D	1	B;B	0.22541	0.014;0.071	B;B	0.23852	0.033;0.049	T	0.14615	-1.0466	10	0.20519	T	0.43	.	8.3347	0.32208	0.1187:0.065:0.0:0.8163	.	810;877	B4E1Y7;Q9Y5Q5	.;CORIN_HUMAN	A	877;738;810;840	ENSP00000273857:T877A;ENSP00000425597:T738A;ENSP00000424212:T810A;ENSP00000425401:T840A	ENSP00000273857:T877A	T	-	1	0	CORIN	47300354	1.000000	0.71417	0.987000	0.45799	0.128000	0.20619	1.781000	0.38644	1.123000	0.41961	0.533000	0.62120	ACC		0.488	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2			3	50	0	0	0	6.4e-05	0	3	50				
GFM1	85476	broad.mit.edu	37	3	158363475	158363475	+	Nonsense_Mutation	SNP	C	C	T	rs119470019		TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr3:158363475C>T	ENST00000486715.1	+	2	496	c.139C>T	c.(139-141)Cga>Tga	p.R47*	GFM1_ENST00000264263.5_Nonsense_Mutation_p.R47*|GFM1_ENST00000478576.1_Nonsense_Mutation_p.R47*	NM_024996.5	NP_079272.4			G elongation factor, mitochondrial 1											breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			TGAAAAAATACGAAATATTGG	0.383																																						ENST00000486715.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22	GRCh37	CM070936	GFM1	M	rs119470019	c.(139-141)Cga>Tga		G elongation factor, mitochondrial 1		C	stop/ARG	0,4406		0,0,2203	109.0	109.0	109.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	139	5.4	1.0	3	dbSNP_132	109	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	GFM1	NM_024996.5		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		47/752	158363475	1,13005	2203	4300	6503	SO:0001587	stop_gained	85476				mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity	g.chr3:158363475C>T	AF309777	CCDS33885.1	3q25	2008-02-05			ENSG00000168827	ENSG00000168827			13780	protein-coding gene	gene with protein product		606639	"""G translation elongation factor, mitochondrial"""			11374907, 11735030	Standard	NM_024996		Approved	EFGM, GFM, EGF1	uc003fce.3	Q96RP9	OTTHUMG00000158804	ENST00000486715.1:c.139C>T	3.37:g.158363475C>T	ENSP00000419038:p.Arg47*					GFM1_ENST00000478576.1_Nonsense_Mutation_p.R47*|GFM1_ENST00000264263.5_Nonsense_Mutation_p.R47*	p.R47*	NM_024996.5	NP_079272.4	Q96RP9	EFGM_HUMAN	Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		2	496	+			47						Nonsense_Mutation	SNP	ENST00000486715.1	37	c.139C>T	CCDS33885.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.970289	0.92919	0.0	1.16E-4	ENSG00000168827	ENST00000486715;ENST00000478576;ENST00000264263	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.147	14.6895	0.69072	0.2147:0.7853:0.0:0.0	.	.	.	.	X	47	.	ENSP00000264263:R47X	R	+	1	2	GFM1	159846169	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	2.231000	0.43009	2.527000	0.85204	0.655000	0.94253	CGA		0.383	GFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352271.1	NM_024996		27	53	0	0	0	0.000878237	0	27	53				
CYP4Z2P	163720	broad.mit.edu	37	1	47338951	47338951	+	RNA	SNP	G	G	A	rs17102753	byFrequency	TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr1:47338951G>A	ENST00000505841.1	-	0	843					NR_002788.2		Q8N1L4	CP4Z2_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 2, pseudogene							integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)										AAATCCTGGCGTCTTTTCTGA	0.353													G|||	67	0.0133786	0.0484	0.0029	5008	,	,		18745	0.0		0.0	False		,,,				2504	0.001					ENST00000505841.1																			0																																																			163720							g.chr1:47338951G>A	AY262057		1p33	2013-07-25	2013-05-03		ENSG00000154198	ENSG00000154198		"""Cytochrome P450s"""	24426	pseudogene	pseudogene						15059886	Standard	NR_002788		Approved	FLJ40054	uc031pmm.1	Q8N1L4	OTTHUMG00000008024		1.37:g.47338951G>A								NR_002788.2						0	843	-								Q66ZJ5	RNA	SNP	ENST00000505841.1	37																																																																																						0.353	CYP4Z2P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361094.1	NR_002788		11	36	0	0	0	0.000978159	0	11	36				
SETD6	79918	broad.mit.edu	37	16	58552079	58552079	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr16:58552079A>G	ENST00000219315.4	+	6	967	c.917A>G	c.(916-918)aAc>aGc	p.N306S	SETD6_ENST00000394266.4_Missense_Mutation_p.N237S|SETD6_ENST00000310682.2_Missense_Mutation_p.N282S|SETD6_ENST00000418480.1_Intron			Q8TBK2	SETD6_HUMAN	SET domain containing 6	306					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|peptidyl-lysine monomethylation (GO:0018026)|regulation of inflammatory response (GO:0050727)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	NF-kappaB binding (GO:0051059)|protein-lysine N-methyltransferase activity (GO:0016279)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	7						TATCCTGACAACACAGATGAC	0.428																																						ENST00000394266.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	7						c.(709-711)aAc>aGc		SET domain containing 6							163.0	135.0	145.0					16																	58552079		2198	4300	6498	SO:0001583	missense	79918				negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response	nucleus	NF-kappaB binding|protein-lysine N-methyltransferase activity	g.chr16:58552079A>G	AK024801	CCDS10798.1, CCDS54013.1	16q21	2008-02-05			ENSG00000103037	ENSG00000103037			26116	protein-coding gene	gene with protein product						12477932	Standard	NM_024860		Approved	FLJ21148	uc002ens.3	Q8TBK2	OTTHUMG00000150276	ENST00000219315.4:c.917A>G	16.37:g.58552079A>G	ENSP00000219315:p.Asn306Ser					SETD6_ENST00000219315.4_Missense_Mutation_p.N306S|SETD6_ENST00000310682.2_Missense_Mutation_p.N282S|SETD6_ENST00000418480.1_Intron	p.N237S			Q8TBK2	SETD6_HUMAN			7	766	+			306			SET.		A8K380|B5ME38|Q9H787	Missense_Mutation	SNP	ENST00000219315.4	37	c.710A>G	CCDS54013.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.314183	0.81358	.	.	ENSG00000103037	ENST00000310682;ENST00000394266;ENST00000219315	T;T;T	0.17213	2.29;2.29;2.29	5.23	5.23	0.72850	Rubisco LS methyltransferase, substrate-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.39145	0.1067	M	0.66939	2.045	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.80764	0.989;0.994	T	0.10359	-1.0633	10	0.38643	T	0.18	-24.661	14.3223	0.66493	1.0:0.0:0.0:0.0	.	306;282	Q8TBK2;Q8TBK2-2	SETD6_HUMAN;.	S	282;237;306	ENSP00000310082:N282S;ENSP00000377809:N237S;ENSP00000219315:N306S	ENSP00000219315:N306S	N	+	2	0	SETD6	57109580	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.673000	0.91186	1.965000	0.57142	0.528000	0.53228	AAC		0.428	SETD6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317274.2	NM_024860		17	49	0	0	0	0.000422831	0	17	49				
ARMC1	55156	broad.mit.edu	37	8	66539564	66539564	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr8:66539564G>C	ENST00000276569.3	-	2	314	c.70C>G	c.(70-72)Cta>Gta	p.L24V	ARMC1_ENST00000523384.1_5'UTR|ARMC1_ENST00000458464.2_De_novo_Start_OutOfFrame	NM_018120.4	NP_060590.1	Q9NVT9	ARMC1_HUMAN	armadillo repeat containing 1	24					metal ion transport (GO:0030001)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)			TCTGCTGCTAGATCCCGTAAC	0.463																																						ENST00000458464.2																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14								armadillo repeat containing 1							156.0	145.0	148.0					8																	66539564		2203	4300	6503	SO:0001583	missense	55156				metal ion transport		metal ion binding	g.chr8:66539564G>C	BC011607	CCDS6181.1, CCDS69490.1	8q12.3	2013-02-14			ENSG00000104442	ENSG00000104442		"""Armadillo repeat containing"""	17684	protein-coding gene	gene with protein product							Standard	XM_005251264		Approved	FLJ10511, Arcp	uc003xvl.3	Q9NVT9	OTTHUMG00000164374	ENST00000276569.3:c.70C>G	8.37:g.66539564G>C	ENSP00000276569:p.Leu24Val					ARMC1_ENST00000276569.3_Missense_Mutation_p.L24V|ARMC1_ENST00000523384.1_5'UTR				Q9NVT9	ARMC1_HUMAN	Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)		0	278	-								B4E2W7|Q9H018|Q9H820	Translation_Start_Site	SNP	ENST00000276569.3	37		CCDS6181.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.834456	0.50951	.	.	ENSG00000104442	ENST00000276569;ENST00000518908;ENST00000519352	T;T;T	0.61510	0.1;0.1;0.1	5.61	3.8	0.43715	Armadillo-like helical (1);Armadillo-type fold (1);	0.069547	0.56097	D	0.000025	T	0.58666	0.2138	M	0.78456	2.415	0.80722	D	1	P	0.51351	0.944	B	0.44315	0.446	T	0.61392	-0.7072	10	0.72032	D	0.01	.	8.0217	0.30412	0.3103:0.0:0.6897:0.0	.	24	Q9NVT9	ARMC1_HUMAN	V	24	ENSP00000276569:L24V;ENSP00000429191:L24V;ENSP00000429715:L24V	ENSP00000276569:L24V	L	-	1	2	ARMC1	66702118	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	2.450000	0.44943	0.709000	0.31976	0.655000	0.94253	CTA		0.463	ARMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378480.1	NM_018120		32	168	0	0	0	0.0024448	0	32	168				
ALG2	85365	broad.mit.edu	37	9	101980890	101980890	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr9:101980890G>C	ENST00000476832.1	-	2	638	c.577C>G	c.(577-579)Cac>Gac	p.H193D	ALG2_ENST00000319033.6_Missense_Mutation_p.H100D	NM_033087.3	NP_149078.1	O75340	PDCD6_HUMAN	ALG2, alpha-1,3/1,6-mannosyltransferase	0					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|proteolysis (GO:0006508)|response to calcium ion (GO:0051592)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|calcium-dependent protein binding (GO:0048306)|protein dimerization activity (GO:0046983)	p.H193D(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2)	22		Acute lymphoblastic leukemia(62;0.0559)				GGGTCTATGTGAGACAGGGAC	0.453																																						ENST00000476832.1																			1	Substitution - Missense(1)	p.H193D(1)	breast(1)	breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2)	22						c.(577-579)Cac>Gac		ALG2, alpha-1,3/1,6-mannosyltransferase							117.0	117.0	117.0					9																	101980890		2203	4300	6503	SO:0001583	missense	85365				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion	endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding	g.chr9:101980890G>C	AK027417	CCDS6739.1	9q31.1	2013-02-22	2013-02-22		ENSG00000119523	ENSG00000119523	2.4.1.132, 2.4.1.257	"""Glycosyltransferase group 1 domain containing"""	23159	protein-coding gene	gene with protein product		607905	"""asparagine-linked glycosylation 2 homolog (yeast, alpha-1,3-mannosyltransferase)"", ""asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog (S. cerevisiae)"""			12684507	Standard	NR_024532		Approved	CDGIi, FLJ14511, hALPG2, NET38	uc004azf.3	Q9H553	OTTHUMG00000020355	ENST00000476832.1:c.577C>G	9.37:g.101980890G>C	ENSP00000417764:p.His193Asp					ALG2_ENST00000319033.6_Missense_Mutation_p.H100D	p.H193D	NM_033087.3	NP_149078.1	Q9H553	ALG2_HUMAN			2	638	-		Acute lymphoblastic leukemia(62;0.0559)	193					B2RD16|E7ESR3|Q2YDC2|Q5TZS0	Missense_Mutation	SNP	ENST00000476832.1	37	c.577C>G	CCDS6739.1	.	.	.	.	.	.	.	.	.	.	G	7.124	0.578609	0.13686	.	.	ENSG00000119523	ENST00000476832;ENST00000319033	T;T	0.78595	-1.19;-1.19	5.38	4.49	0.54785	.	0.352304	0.36740	N	0.002423	T	0.66406	0.2786	L	0.35341	1.055	0.43275	D	0.995236	B;B	0.15141	0.012;0.007	B;B	0.15052	0.012;0.005	T	0.60078	-0.7333	10	0.13108	T	0.6	-14.4437	14.3107	0.66415	0.0717:0.0:0.9283:0.0	.	100;193	Q9H553-2;Q9H553	.;ALG2_HUMAN	D	193;100	ENSP00000417764:H193D;ENSP00000326609:H100D	ENSP00000432675:H100D	H	-	1	0	ALG2	101020711	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	3.342000	0.52159	1.412000	0.46977	0.650000	0.86243	CAC		0.453	ALG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215080.1	NM_033087		13	97	0	0	0	0.00244969	0	13	97				
JMJD1C	221037	broad.mit.edu	37	10	64966567	64966567	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr10:64966567G>A	ENST00000399262.2	-	10	5080	c.4862C>T	c.(4861-4863)aCt>aTt	p.T1621I	JMJD1C_ENST00000402544.1_Missense_Mutation_p.T1402I|JMJD1C_ENST00000542921.1_Missense_Mutation_p.T1439I|JMJD1C_ENST00000399251.1_Missense_Mutation_p.T1402I	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1621					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					AGATTCATAAGTTCTTTTGGC	0.348																																						ENST00000399262.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77						c.(4861-4863)aCt>aTt		jumonji domain containing 1C							109.0	98.0	102.0					10																	64966567		1911	4140	6051	SO:0001583	missense	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64966567G>A	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.4862C>T	10.37:g.64966567G>A	ENSP00000382204:p.Thr1621Ile					JMJD1C_ENST00000542921.1_Missense_Mutation_p.T1439I|JMJD1C_ENST00000399251.1_Missense_Mutation_p.T1402I|JMJD1C_ENST00000402544.1_Missense_Mutation_p.T1402I	p.T1621I	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN			10	5080	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		1621					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	c.4862C>T	CCDS41532.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.68|18.68	3.675913|3.675913	0.67928|0.67928	.|.	.|.	ENSG00000171988|ENSG00000171988	ENST00000327520|ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	.|T;T;T;T	.|0.56941	.|0.78;0.43;2.15;0.78	5.29|5.29	5.29|5.29	0.74685|0.74685	.|.	.|0.107611	.|0.64402	.|D	.|0.000007	T|T	0.59729|0.59729	0.2215|0.2215	L|L	0.56769|0.56769	1.78|1.78	0.54753|0.54753	D|D	0.999986|0.999986	.|D;D;D	.|0.56287	.|0.975;0.975;0.975	.|P;P;P	.|0.48368	.|0.478;0.575;0.478	T|T	0.63752|0.63752	-0.6566|-0.6566	5|10	.|0.59425	.|D	.|0.04	-16.9675|-16.9675	19.2908|19.2908	0.94098|0.94098	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1162;1621;1439	.|A6PW35;Q15652;A0T124	.|.;JHD2C_HUMAN;.	F|I	307|1621;1402;1402;1439	.|ENSP00000382204:T1621I;ENSP00000384990:T1402I;ENSP00000382195:T1402I;ENSP00000444682:T1439I	.|ENSP00000382195:T1402I	L|T	-|-	1|2	0|0	JMJD1C|JMJD1C	64636573|64636573	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.537000|9.537000	0.98070|0.98070	2.639000|2.639000	0.89480|0.89480	0.585000|0.585000	0.79938|0.79938	CTT|ACT		0.348	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		24	71	0	0	0	0.00278032	0	24	71				
NOS3	4846	broad.mit.edu	37	7	150693876	150693876	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr7:150693876C>T	ENST00000484524.1	+	4	445	c.445C>T	c.(445-447)Cgg>Tgg	p.R149W	NOS3_ENST00000461406.1_Intron|NOS3_ENST00000297494.3_Missense_Mutation_p.R149W|NOS3_ENST00000467517.1_Missense_Mutation_p.R149W	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.R149R(1)		NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCACGAACAGCGGCTTCAAGA	0.657																																						ENST00000297494.3																			1	Substitution - coding silent(1)	p.R149R(1)	kidney(1)	NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(445-447)Cgg>Tgg		nitric oxide synthase 3 (endothelial cell)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)						13.0	15.0	14.0					7																	150693876		2126	4181	6307	SO:0001583	missense	4846				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr7:150693876C>T		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.445C>T	7.37:g.150693876C>T	ENSP00000420215:p.Arg149Trp					NOS3_ENST00000467517.1_Missense_Mutation_p.R149W|NOS3_ENST00000484524.1_Missense_Mutation_p.R149W|NOS3_ENST00000461406.1_Intron	p.R149W	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	5	802	+	all_neural(206;0.219)		149			Interaction with NOSIP.		Q495E5	Missense_Mutation	SNP	ENST00000484524.1	37	c.445C>T	CCDS55182.1	.	.	.	.	.	.	.	.	.	.	c	21.9	4.221216	0.79464	.	.	ENSG00000164867	ENST00000297494;ENST00000484524;ENST00000467517	T;T;T	0.38722	1.12;1.12;1.12	5.13	4.24	0.50183	Nitric oxide synthase, oxygenase domain (3);	0.107313	0.37623	N	0.002007	T	0.72236	0.3435	H	0.95780	3.72	0.50171	D	0.999859	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.78628	-0.2130	10	0.87932	D	0	-22.1484	10.7279	0.46079	0.3683:0.6317:0.0:0.0	.	149;149;149;149	A0S0A6;E9PFR2;A0S0A8;P29474	.;.;.;NOS3_HUMAN	W	149	ENSP00000297494:R149W;ENSP00000420215:R149W;ENSP00000420551:R149W	ENSP00000297494:R149W	R	+	1	2	NOS3	150324809	0.996000	0.38824	0.995000	0.50966	0.981000	0.71138	0.554000	0.23407	1.115000	0.41800	0.478000	0.44815	CGG		0.657	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351550.1	NM_000603		5	21	0	0	0	0.000602214	0	5	21				
INPP5J	27124	broad.mit.edu	37	22	31520883	31520883	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr22:31520883C>T	ENST00000331075.5	+	2	207	c.158C>T	c.(157-159)tCg>tTg	p.S53L	INPP5J_ENST00000405300.1_5'UTR|INPP5J_ENST00000404453.1_5'Flank|INPP5J_ENST00000400294.2_5'UTR|INPP5J_ENST00000412277.2_5'UTR|INPP5J_ENST00000401755.1_5'Flank|INPP5J_ENST00000404390.3_Missense_Mutation_p.S53L|INPP5J_ENST00000402238.1_5'Flank	NM_001284285.1	NP_001271214.1	Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	53					inositol phosphate metabolic process (GO:0043647)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of neuron projection development (GO:0010977)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:0034485)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						CTAGGACCCTCGGAACCAAGG	0.572																																						ENST00000331075.5																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						c.(157-159)tCg>tTg		inositol polyphosphate-5-phosphatase J							43.0	44.0	44.0					22																	31520883		1959	4143	6102	SO:0001583	missense	27124					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding	g.chr22:31520883C>T	U45975	CCDS46687.1, CCDS63453.1, CCDS63454.1, CCDS63455.1, CCDS74847.1	22q12.2	2008-09-09	2008-09-09	2008-09-09	ENSG00000185133	ENSG00000185133			8956	protein-coding gene	gene with protein product		606481	"""phosphatidylinositol (4,5) bisphosphate 5-phosphatase, A"""	PIB5PA		10591208	Standard	NM_001284287		Approved	INPP5	uc003aju.4	Q15735	OTTHUMG00000151206	ENST00000331075.5:c.158C>T	22.37:g.31520883C>T	ENSP00000333262:p.Ser53Leu					INPP5J_ENST00000412277.2_5'UTR|INPP5J_ENST00000400294.2_5'UTR|INPP5J_ENST00000404390.3_Missense_Mutation_p.S53L|INPP5J_ENST00000405300.1_5'UTR	p.S53L			Q15735	PI5PA_HUMAN			2	207	+			53					B3KS54|Q32M61|Q6ZTH6|Q8N902|Q9UDT9	Missense_Mutation	SNP	ENST00000331075.5	37	c.158C>T		.	.	.	.	.	.	.	.	.	.	C	8.772	0.926113	0.18056	.	.	ENSG00000185133	ENST00000331075;ENST00000404390	D;D	0.97256	-4.31;-3.68	3.69	-7.38	0.01407	.	2.475690	0.01562	N	0.020158	D	0.92596	0.7648	.	.	.	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	D	0.85082	0.0946	8	.	.	.	.	13.3828	0.60778	0.0:0.1957:0.0:0.8043	.	53;53	Q15735;Q15735-3	PI5PA_HUMAN;.	L	53	ENSP00000333262:S53L;ENSP00000384534:S53L	.	S	+	2	0	INPP5J	29850883	0.000000	0.05858	0.000000	0.03702	0.826000	0.46750	-2.758000	0.00787	-1.717000	0.01385	-0.459000	0.05422	TCG		0.572	INPP5J-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000321784.1	NM_001002837		11	34	0	0	0	0.000978159	0	11	34				
FAT2	2196	broad.mit.edu	37	5	150929062	150929062	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr5:150929062C>T	ENST00000261800.5	-	8	4595	c.4583G>A	c.(4582-4584)cGa>cAa	p.R1528Q		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1528	Cadherin 13. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCCTGGTCTCGGACCTATGG	0.483																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(4582-4584)cGa>cAa		FAT atypical cadherin 2							48.0	47.0	48.0					5																	150929062		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150929062C>T	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.4583G>A	5.37:g.150929062C>T	ENSP00000261800:p.Arg1528Gln						p.R1528Q	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		8	4595	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	1528			Cadherin 13.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.4583G>A	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	32	5.153427	0.94645	.	.	ENSG00000086570	ENST00000261800	T	0.52754	0.65	4.81	4.81	0.61882	Cadherin (4);Cadherin-like (1);	0.000000	0.49305	D	0.000141	T	0.64843	0.2635	L	0.58669	1.825	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.60332	-0.7284	10	0.25106	T	0.35	.	18.2322	0.89937	0.0:1.0:0.0:0.0	.	1528	Q9NYQ8	FAT2_HUMAN	Q	1528	ENSP00000261800:R1528Q	ENSP00000261800:R1528Q	R	-	2	0	FAT2	150909255	1.000000	0.71417	0.999000	0.59377	0.856000	0.48823	7.335000	0.79234	2.360000	0.80028	0.561000	0.74099	CGA		0.483	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		26	12	0	0	0	0.000586117	0	26	12				
OR5D13	390142	broad.mit.edu	37	11	55540981	55540981	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr11:55540981C>T	ENST00000361760.1	+	1	68	c.68C>T	c.(67-69)cCa>cTa	p.P23L		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	23						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TCAGAATACCCAGAAATCCAG	0.373																																						ENST00000361760.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40						c.(67-69)cCa>cTa		olfactory receptor, family 5, subfamily D, member 13							114.0	114.0	114.0					11																	55540981		2200	4296	6496	SO:0001583	missense	390142				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55540981C>T	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"""GPCR / Class A : Olfactory receptors"""	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.68C>T	11.37:g.55540981C>T	ENSP00000354800:p.Pro23Leu						p.P23L	NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN			1	68	+		all_epithelial(135;0.196)	23					Q6IF68|Q6IFC9	Missense_Mutation	SNP	ENST00000361760.1	37	c.68C>T	CCDS31507.1	.	.	.	.	.	.	.	.	.	.	C	12.24	1.879114	0.33162	.	.	ENSG00000198877	ENST00000361760	T	0.00421	7.46	3.52	3.52	0.40303	.	0.280146	0.18918	U	0.127566	T	0.00666	0.0022	L	0.60845	1.875	0.21220	N	0.999755	D	0.71674	0.998	D	0.65010	0.931	T	0.52711	-0.8539	10	0.54805	T	0.06	-3.5161	5.2467	0.15500	0.0:0.6708:0.2126:0.1167	.	23	Q8NGL4	OR5DD_HUMAN	L	23	ENSP00000354800:P23L	ENSP00000354800:P23L	P	+	2	0	OR5D13	55297557	0.000000	0.05858	0.251000	0.24312	0.015000	0.08874	-0.456000	0.06754	2.001000	0.58596	0.486000	0.48141	CCA		0.373	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967		9	120	0	0	0	0.000442599	0	9	120				
ADCY2	108	broad.mit.edu	37	5	7396480	7396480	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr5:7396480A>T	ENST00000338316.4	+	1	160	c.71A>T	c.(70-72)gAc>gTc	p.D24V		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	24					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GGCGGCGGAGACGGGCTGCCG	0.726																																						ENST00000338316.4																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						c.(70-72)gAc>gTc		adenylate cyclase 2 (brain)							17.0	16.0	16.0					5																	7396480		2167	4259	6426	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7396480A>T	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.71A>T	5.37:g.7396480A>T	ENSP00000342952:p.Asp24Val						p.D24V	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN			1	160	+			24					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.71A>T	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	A	5.901	0.350373	0.11182	.	.	ENSG00000078295	ENST00000338316	T	0.75260	-0.92	3.22	-1.28	0.09318	.	0.684650	0.12820	U	0.436489	T	0.52773	0.1755	N	0.22421	0.69	0.20307	N	0.999918	B	0.02656	0.0	B	0.01281	0.0	T	0.30416	-0.9979	10	0.30078	T	0.28	.	4.4008	0.11385	0.2151:0.2074:0.5775:0.0	.	24	Q08462	ADCY2_HUMAN	V	24	ENSP00000342952:D24V	ENSP00000342952:D24V	D	+	2	0	ADCY2	7449480	0.010000	0.17322	0.212000	0.23672	0.581000	0.36288	0.381000	0.20619	-0.199000	0.10317	0.164000	0.16699	GAC		0.726	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		16	22	0	0	0	0.000566183	0	16	22				
FAM129B	64855	broad.mit.edu	37	9	130269539	130269539	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr9:130269539G>A	ENST00000373312.3	-	14	2039	c.1826C>T	c.(1825-1827)tCa>tTa	p.S609L	FAM129B_ENST00000373314.3_Missense_Mutation_p.S596L|FAM129B_ENST00000468379.1_5'UTR	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	609					negative regulation of apoptotic process (GO:0043066)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GAGGGTGGCTGACTCCGGGGT	0.697																																						ENST00000373312.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						c.(1825-1827)tCa>tTa		family with sequence similarity 129, member B							23.0	26.0	25.0					9																	130269539		2201	4286	6487	SO:0001583	missense	64855						protein binding	g.chr9:130269539G>A	AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830			25282	protein-coding gene	gene with protein product		614045	"""chromosome 9 open reading frame 88"""	C9orf88		14702039, 19362540	Standard	XM_005252135		Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.1826C>T	9.37:g.130269539G>A	ENSP00000362409:p.Ser609Leu					FAM129B_ENST00000373314.3_Missense_Mutation_p.S596L|FAM129B_ENST00000468379.1_5'UTR	p.S609L	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN			14	2039	-			609					Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Missense_Mutation	SNP	ENST00000373312.3	37	c.1826C>T	CCDS35145.1	.	.	.	.	.	.	.	.	.	.	G	9.649	1.140944	0.21205	.	.	ENSG00000136830	ENST00000373314;ENST00000538931;ENST00000373312	T;T	0.25749	1.78;1.78	4.72	0.249	0.15531	.	0.419011	0.25341	N	0.031371	T	0.12944	0.0314	N	0.22421	0.69	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.08055	0.003;0.003	T	0.14448	-1.0472	10	0.54805	T	0.06	-0.1224	2.98	0.05951	0.1016:0.3287:0.4008:0.1689	.	596;609	Q96TA1-2;Q96TA1	.;NIBL1_HUMAN	L	596;259;609	ENSP00000362411:S596L;ENSP00000362409:S609L	ENSP00000362409:S609L	S	-	2	0	FAM129B	129309360	0.000000	0.05858	0.004000	0.12327	0.473000	0.32948	0.290000	0.18975	-0.018000	0.14079	0.561000	0.74099	TCA		0.697	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1	NM_022833		5	52	0	0	0	0.00116845	0	5	52				
USH2A	7399	broad.mit.edu	37	1	216462695	216462695	+	Missense_Mutation	SNP	G	G	C	rs373190681		TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr1:216462695G>C	ENST00000307340.3	-	11	2284	c.1898C>G	c.(1897-1899)tCg>tGg	p.S633W	USH2A_ENST00000366943.2_Missense_Mutation_p.S633W|USH2A_ENST00000366942.3_Missense_Mutation_p.S633W	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	633	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATCTATGGCCGAAGGATCTGC	0.408										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(1897-1899)tCg>tGg		Usher syndrome 2A (autosomal recessive, mild)							175.0	154.0	161.0					1																	216462695		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216462695G>C	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.1898C>G	1.37:g.216462695G>C	ENSP00000305941:p.Ser633Trp	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.S633W|USH2A_ENST00000366942.3_Missense_Mutation_p.S633W	p.S633W			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	11	2284	-			633			Laminin EGF-like 2.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.1898C>G	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.176087	0.38413	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.21932	2.44;2.43;1.98	5.43	5.43	0.79202	EGF-like, laminin (3);	0.209202	0.23861	N	0.043842	T	0.43144	0.1234	L	0.49778	1.585	0.49915	D	0.999838	B;D	0.76494	0.111;0.999	B;D	0.74348	0.082;0.983	T	0.08027	-1.0742	10	0.46703	T	0.11	.	19.6173	0.95639	0.0:0.0:1.0:0.0	.	633;633	O75445-2;O75445	.;USH2A_HUMAN	W	633	ENSP00000305941:S633W;ENSP00000355910:S633W;ENSP00000355909:S633W	ENSP00000305941:S633W	S	-	2	0	USH2A	214529318	0.996000	0.38824	0.943000	0.38184	0.905000	0.53344	4.655000	0.61476	2.712000	0.92718	0.557000	0.71058	TCG		0.408	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		17	54	0	0	0	0.000422831	0	17	54				
TRIM69	140691	broad.mit.edu	37	15	45047401	45047401	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr15:45047401A>T	ENST00000559390.1	+	3	1238	c.310A>T	c.(310-312)Aag>Tag	p.K104*	TRIM69_ENST00000560442.1_Intron|TRIM69_ENST00000558329.1_Intron|TRIM69_ENST00000561043.1_Intron|TRIM69_ENST00000558173.1_De_novo_Start_InFrame|TRIM69_ENST00000338264.4_Intron|TRIM69_ENST00000329464.4_Nonsense_Mutation_p.K104*			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	104	Necessary for nuclear localization. {ECO:0000250}.		K -> R (in dbSNP:rs17588988).		apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		AGAGAAGATTAAGAAGTTACC	0.438																																					Pancreas(84;519 1450 1802 20427 34706)	ENST00000559390.1																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20						c.(310-312)Aag>Tag		tripartite motif containing 69							116.0	102.0	107.0					15																	45047401		2198	4298	6496	SO:0001587	stop_gained	140691				apoptosis	nuclear speck	zinc ion binding	g.chr15:45047401A>T	AF302088	CCDS10114.1, CCDS32220.1, CCDS73719.1	15q15-q21	2013-01-09	2011-01-25	2006-09-26	ENSG00000185880	ENSG00000185880		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	17857	protein-coding gene	gene with protein product			"""ring finger protein 36"", ""tripartite motif-containing 69"""	RNF36			Standard	XM_005254162		Approved	Trif, TRIMLESS	uc001zug.1	Q86WT6	OTTHUMG00000131246	ENST00000559390.1:c.310A>T	15.37:g.45047401A>T	ENSP00000453177:p.Lys104*					TRIM69_ENST00000558329.1_Intron|TRIM69_ENST00000329464.4_Nonsense_Mutation_p.K104*|TRIM69_ENST00000338264.4_Intron|TRIM69_ENST00000561043.1_Intron|TRIM69_ENST00000560442.1_Intron|TRIM69_ENST00000558173.1_De_novo_Start_InFrame	p.K104*			Q86WT6	TRI69_HUMAN		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)	3	1238	+		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)	104		K -> R (in dbSNP:rs17588988).	Necessary for nuclear localization (By similarity).		A8MX03|Q309B0|Q4G1A5|Q6W897|Q8IYY3|Q8WY16|Q8WY17	Nonsense_Mutation	SNP	ENST00000559390.1	37	c.310A>T	CCDS32220.1	.	.	.	.	.	.	.	.	.	.	A	37	6.602360	0.97697	.	.	ENSG00000185880	ENST00000329464	.	.	.	5.17	3.96	0.45880	.	0.000000	0.53938	D	0.000059	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.6237	0.33877	0.8063:0.1937:0.0:0.0	.	.	.	.	X	104	.	ENSP00000332284:K104X	K	+	1	0	TRIM69	42834693	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	1.947000	0.40293	2.089000	0.63090	0.455000	0.32223	AAG		0.438	TRIM69-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416171.1			23	33	0	0	0	0.00229938	0	23	33				
KRTAP1-1	81851	broad.mit.edu	37	17	39197549	39197549	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr17:39197549G>C	ENST00000306271.4	-	1	164	c.101C>G	c.(100-102)tCc>tGc	p.S34C		NM_030967.2	NP_112229.1	Q07627	KRA11_HUMAN	keratin associated protein 1-1	34			Missing (in allele KAP1.7). {ECO:0000269|PubMed:11841537}.|PSCSTSGTCGSSCCQPSCCETSSCQPRCCETSCCQPSCCQT SFCGFP -> R (in allele KAP1.6).			keratin filament (GO:0045095)		p.S34C(6)		NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1)	14		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TGGCTGGCAGGAGCTGGTCTC	0.612																																						ENST00000306271.4																			6	Substitution - Missense(6)	p.S34C(6)	kidney(4)|lung(1)|prostate(1)	NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1)	14						c.(100-102)tCc>tGc		keratin associated protein 1-1							49.0	62.0	58.0					17																	39197549		2018	4199	6217	SO:0001583	missense	81851					extracellular region|keratin filament		g.chr17:39197549G>C	AJ406926	CCDS42324.1	17q21.2	2014-06-05			ENSG00000188581	ENSG00000188581		"""Keratin associated proteins"""	16772	protein-coding gene	gene with protein product		608819				11279113	Standard	NM_030967		Approved	KAP1.1B, HB2A, KAP1.1, KAP1.1A	uc002hvw.1	Q07627	OTTHUMG00000133592	ENST00000306271.4:c.101C>G	17.37:g.39197549G>C	ENSP00000305975:p.Ser34Cys						p.S34C	NM_030967.2	NP_112229.1	Q07627	KRA11_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	164	-		Breast(137;0.000496)	34		Missing (in allele KAP1.7).|PSCSTSGTCGSSCCQPSCCETSSCQPRCCETSCCQPSCCQT SFCGFP -> R (in allele KAP1.6).			A6NC32|Q96S60|Q96S67	Missense_Mutation	SNP	ENST00000306271.4	37	c.101C>G	CCDS42324.1	.	.	.	.	.	.	.	.	.	.	G	0.085	-1.176298	0.01646	.	.	ENSG00000188581	ENST00000306271	T	0.16196	2.36	3.91	1.65	0.23941	.	.	.	.	.	T	0.01835	0.0058	N	0.00010	-3.04	0.22552	N	0.998996	B	0.02656	0.0	B	0.01281	0.0	T	0.40924	-0.9537	9	0.02654	T	1	.	7.8006	0.29172	0.1777:0.6415:0.1808:0.0	.	34	Q07627	KRA11_HUMAN	C	34	ENSP00000305975:S34C	ENSP00000305975:S34C	S	-	2	0	KRTAP1-1	36451075	1.000000	0.71417	0.987000	0.45799	0.816000	0.46133	1.227000	0.32576	0.919000	0.36945	-0.233000	0.12211	TCC		0.612	KRTAP1-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257696.1	NM_030967		4	83	0	0	0	0.00116845	0	4	83				
TTN	7273	broad.mit.edu	37	2	179616392	179616392	+	Intron	SNP	T	T	C			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr2:179616392T>C	ENST00000591111.1	-	45	10585				TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.R3579G			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTAGTAACCTATAACTTCCA	0.373																																						ENST00000360870.5																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(10735-10737)Agg>Ggg		titin							87.0	92.0	90.0					2																	179616392		2202	4299	6501	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179616392T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+1458A>G	2.37:g.179616392T>C						TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron	p.R3579G	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	10957	-			3574			Ig-like 21.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.10735A>G		.	.	.	.	.	.	.	.	.	.	T	10.85	1.467315	0.26335	.	.	ENSG00000155657	ENST00000360870	T	0.44083	0.93	5.76	5.76	0.90799	.	.	.	.	.	T	0.53158	0.1779	L	0.42581	1.335	0.80722	D	1	D	0.71674	0.998	D	0.66351	0.943	T	0.53287	-0.8460	9	0.51188	T	0.08	.	11.6954	0.51540	0.0:0.0:0.1477:0.8523	.	3579	Q8WZ42-6	.	G	3579	ENSP00000354117:R3579G	ENSP00000354117:R3579G	R	-	1	2	TTN	179324637	1.000000	0.71417	0.192000	0.23308	0.295000	0.27426	4.938000	0.63519	2.196000	0.70406	0.533000	0.62120	AGG		0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		3	129	0	0	0	6.4e-05	0	3	129				
TAF1L	138474	broad.mit.edu	37	9	32633291	32633291	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr9:32633291C>T	ENST00000242310.4	-	1	2376	c.2287G>A	c.(2287-2289)Gag>Aag	p.E763K	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	763					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AGGTTGTTCTCAAGTGCCTGC	0.433																																						ENST00000242310.4																			0				breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(2287-2289)Gag>Aag		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							188.0	183.0	185.0					9																	32633291		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32633291C>T	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.2287G>A	9.37:g.32633291C>T	ENSP00000418379:p.Glu763Lys						p.E763K	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	2376	-			763					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.2287G>A	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	C	10.19	1.282758	0.23392	.	.	ENSG00000122728	ENST00000242310	T	0.14022	2.54	1.19	1.19	0.21007	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.047820	0.85682	D	0.000000	T	0.37517	0.1006	M	0.90922	3.16	0.58432	D	0.999994	D	0.64830	0.994	D	0.65573	0.936	T	0.30060	-0.9991	10	0.66056	D	0.02	.	7.8312	0.29344	0.0:1.0:0.0:0.0	.	763	Q8IZX4	TAF1L_HUMAN	K	763	ENSP00000418379:E763K	ENSP00000418379:E763K	E	-	1	0	TAF1L	32623291	1.000000	0.71417	0.973000	0.42090	0.261000	0.26267	4.928000	0.63447	0.632000	0.30432	0.195000	0.17529	GAG		0.433	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			8	99	0	0	0	0.000274275	0	8	99				
UGT3A2	167127	broad.mit.edu	37	5	36066838	36066838	+	Silent	SNP	C	C	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr5:36066838C>A	ENST00000282507.3	-	1	155	c.54G>T	c.(52-54)ctG>ctT	p.L18L	UGT3A2_ENST00000545528.1_5'UTR|UGT3A2_ENST00000513300.1_Silent_p.L18L|UGT3A2_ENST00000504954.1_Intron	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	18					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCTCTGAGAGCAGGACCCCAG	0.607																																						ENST00000282507.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43						c.(52-54)ctG>ctT		UDP glycosyltransferase 3 family, polypeptide A2							141.0	147.0	145.0					5																	36066838		2203	4300	6503	SO:0001819	synonymous_variant	167127					integral to membrane	glucuronosyltransferase activity	g.chr5:36066838C>A		CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"""UDP glucuronosyltransferases"""	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.54G>T	5.37:g.36066838C>A						UGT3A2_ENST00000513300.1_Silent_p.L18L|UGT3A2_ENST00000545528.1_5'UTR|UGT3A2_ENST00000504954.1_Intron	p.L18L	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		1	155	-	all_lung(31;0.000179)		18					B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Silent	SNP	ENST00000282507.3	37	c.54G>T	CCDS3914.1																																																																																				0.607	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253771.2	NM_174914		97	131	1	0	3.57987e-33	0.000781405	2.1418e-32	97	131				
POLG	5428	broad.mit.edu	37	15	89864134	89864134	+	Silent	SNP	G	G	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr15:89864134G>A	ENST00000268124.5	-	18	3177	c.2844C>T	c.(2842-2844)atC>atT	p.I948I	POLG_ENST00000442287.2_Silent_p.I948I	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	948					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			CGTAGTTGAAGATTTTGGCAT	0.557								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)	ENST00000268124.5																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33						c.(2842-2844)atC>atT	DNA polymerases (catalytic subunits)	polymerase (DNA directed), gamma							119.0	93.0	101.0					15																	89864134		2200	4299	6499	SO:0001819	synonymous_variant	5428				base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding	g.chr15:89864134G>A	X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"""DNA polymerases"""	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.2844C>T	15.37:g.89864134G>A						POLG_ENST00000442287.2_Silent_p.I948I	p.I948I	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	STAD - Stomach adenocarcinoma(125;0.165)		18	3177	-	Lung NSC(78;0.0472)|all_lung(78;0.089)		948					Q8NFM2|Q92515	Silent	SNP	ENST00000268124.5	37	c.2844C>T	CCDS10350.1																																																																																				0.557	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	NM_002693		14	32	0	0	0	0.000308642	0	14	32				
AMBP	259	broad.mit.edu	37	9	116840403	116840403	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr9:116840403G>C	ENST00000265132.3	-	1	349	c.87C>G	c.(85-87)atC>atG	p.I29M		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	29					cell adhesion (GO:0007155)|female pregnancy (GO:0007565)|heme catabolic process (GO:0042167)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of JNK cascade (GO:0046329)|protein catabolic process (GO:0030163)|protein-chromophore linkage (GO:0018298)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|calcium oxalate binding (GO:0046904)|heme binding (GO:0020037)|IgA binding (GO:0019862)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)|small molecule binding (GO:0036094)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	CCTGCACTTGGATGTTGTCGG	0.637																																						ENST00000265132.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11						c.(85-87)atC>atG		alpha-1-microglobulin/bikunin precursor	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)						127.0	136.0	133.0					9																	116840403		2203	4300	6503	SO:0001583	missense	259				cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity	g.chr9:116840403G>C	X04494	CCDS6800.1	9q32-q33	2014-01-22			ENSG00000106927	ENSG00000106927		"""Lipocalins"""	453	protein-coding gene	gene with protein product	"""growth-inhibiting protein 19"", ""uristatin"", ""complex-forming glycoprotein heterogeneous in charge"", ""bikunin"", ""inter-alpha-trypsin inhibitor light chain"", ""protein HC"", ""uronic-acid-rich protein"", ""trypstatin"""	176870		ITI, ITIL		1708673, 1385302	Standard	NM_001633		Approved	UTI, HCP, EDC1, HI30, IATIL, ITILC	uc004bie.4	P02760	OTTHUMG00000020534	ENST00000265132.3:c.87C>G	9.37:g.116840403G>C	ENSP00000265132:p.Ile29Met						p.I29M	NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN			1	349	-			29					P00977|P02759|P78491|Q2TU33|Q5TBD7|Q9UC58|Q9UDI8	Missense_Mutation	SNP	ENST00000265132.3	37	c.87C>G	CCDS6800.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.621520	0.28889	.	.	ENSG00000106927	ENST00000265132	D	0.83506	-1.73	4.39	1.51	0.23008	Calycin-like (1);Calycin (1);	0.205307	0.42294	D	0.000724	T	0.77698	0.4169	M	0.78801	2.425	0.80722	D	1	B	0.31077	0.307	B	0.24701	0.055	T	0.71656	-0.4527	10	0.72032	D	0.01	.	4.5265	0.11983	0.2039:0.1836:0.6124:0.0	.	29	P02760	AMBP_HUMAN	M	29	ENSP00000265132:I29M	ENSP00000265132:I29M	I	-	3	3	AMBP	115880224	1.000000	0.71417	0.998000	0.56505	0.724000	0.41520	1.427000	0.34881	0.214000	0.20742	0.563000	0.77884	ATC		0.637	AMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053758.2	NM_001633		14	105	0	0	0	0.00185496	0	14	105				
POTEG	404785	broad.mit.edu	37	14	19553628	19553628	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr14:19553628G>T	ENST00000409832.3	+	1	264	c.212G>T	c.(211-213)tGg>tTg	p.W71L		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	71										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TGCTTCCCCTGGTGCAGGGGG	0.587																																						ENST00000409832.3																			0				cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(211-213)tGg>tTg		POTE ankyrin domain family, member G							149.0	200.0	183.0					14																	19553628		2045	4130	6175	SO:0001583	missense	404785							g.chr14:19553628G>T		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.212G>T	14.37:g.19553628G>T	ENSP00000386971:p.Trp71Leu						p.W71L	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN			1	264	+			71					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	c.212G>T	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	g	3.481	-0.105860	0.06924	.	.	ENSG00000222036	ENST00000409832	T	0.23552	1.9	.	.	.	.	.	.	.	.	T	0.13415	0.0325	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24728	-1.0152	7	0.62326	D	0.03	.	.	.	.	.	71	Q6S5H5	POTEG_HUMAN	L	71	ENSP00000386971:W71L	ENSP00000386971:W71L	W	+	2	0	POTEG	18623628	0.003000	0.15002	0.010000	0.14722	0.010000	0.07245	0.976000	0.29462	0.162000	0.19483	0.165000	0.16767	TGG		0.587	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		94	950	1	0	1.79293e-35	0.000781405	1.09135e-34	94	950				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		4	57	0	0	0	0.00024832	0	4	57				
CSDE1	7812	broad.mit.edu	37	1	115267850	115267850	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr1:115267850G>A	ENST00000358528.4	-	15	2171	c.1745C>T	c.(1744-1746)aCa>aTa	p.T582I	CSDE1_ENST00000369530.1_Missense_Mutation_p.T597I|CSDE1_ENST00000261443.5_Missense_Mutation_p.T551I|CSDE1_ENST00000534699.1_Missense_Mutation_p.T582I|CSDE1_ENST00000438362.2_Missense_Mutation_p.T628I|CSDE1_ENST00000530886.1_Missense_Mutation_p.T452I|Y_RNA_ENST00000365030.1_RNA|CSDE1_ENST00000339438.6_Missense_Mutation_p.T551I	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	582					male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACCTGAGTGTGTTTTGTTCAC	0.423																																						ENST00000438362.2																			0				NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51						c.(1882-1884)aCa>aTa		cold shock domain containing E1, RNA-binding							237.0	200.0	213.0					1																	115267850		2203	4300	6503	SO:0001583	missense	7812				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding	g.chr1:115267850G>A		CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"""upstream of NRAS"""	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.1745C>T	1.37:g.115267850G>A	ENSP00000351329:p.Thr582Ile					CSDE1_ENST00000369530.1_Missense_Mutation_p.T597I|CSDE1_ENST00000358528.4_Missense_Mutation_p.T582I|CSDE1_ENST00000339438.6_Missense_Mutation_p.T551I|CSDE1_ENST00000261443.5_Missense_Mutation_p.T551I|CSDE1_ENST00000534699.1_Missense_Mutation_p.T582I|CSDE1_ENST00000530886.1_Missense_Mutation_p.T452I	p.T628I	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	15	2261	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	582			CSD 8.		A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Missense_Mutation	SNP	ENST00000358528.4	37	c.1883C>T	CCDS30812.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.815912	0.32145	.	.	ENSG00000009307	ENST00000339438;ENST00000438362;ENST00000358528;ENST00000261443;ENST00000530886;ENST00000369530;ENST00000534699	.	.	.	6.16	6.16	0.99307	Cold shock protein (1);Nucleic acid-binding, OB-fold-like (1);	0.249826	0.42821	D	0.000645	T	0.12220	0.0297	N	0.00686	-1.255	0.31910	N	0.614867	B;B;B	0.22909	0.002;0.001;0.077	B;B;B	0.30401	0.01;0.002;0.115	T	0.21381	-1.0247	9	0.27785	T	0.31	0.0052	20.4549	0.99139	0.0:0.0:1.0:0.0	.	597;582;628	E9PGZ0;O75534;G5E9Q2	.;CSDE1_HUMAN;.	I	551;628;582;551;452;597;582	.	ENSP00000261443:T551I	T	-	2	0	CSDE1	115069373	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.468000	0.73551	2.937000	0.99478	0.650000	0.86243	ACA		0.423	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	NM_007158		44	121	0	0	0	0.00195071	0	44	121				
WNK1	65125	broad.mit.edu	37	12	993920	993920	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr12:993920A>G	ENST00000315939.6	+	19	4593	c.3950A>G	c.(3949-3951)gAa>gGa	p.E1317G	WNK1_ENST00000340908.4_Missense_Mutation_p.E910G|WNK1_ENST00000537687.1_Missense_Mutation_p.E1577G|WNK1_ENST00000535572.1_Missense_Mutation_p.E1070G|WNK1_ENST00000530271.2_Missense_Mutation_p.E1815G	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1317					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CAAATGACAGAAGGACCCAAC	0.478																																					Colon(19;451 567 6672 12618 28860)	ENST00000537687.1																			0				breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104						c.(4729-4731)gAa>gGa		WNK lysine deficient protein kinase 1							129.0	113.0	118.0					12																	993920		2203	4300	6503	SO:0001583	missense	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:993920A>G	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.3950A>G	12.37:g.993920A>G	ENSP00000313059:p.Glu1317Gly					WNK1_ENST00000340908.4_Missense_Mutation_p.E910G|WNK1_ENST00000535572.1_Missense_Mutation_p.E1070G|WNK1_ENST00000530271.2_Missense_Mutation_p.E1815G|WNK1_ENST00000315939.6_Missense_Mutation_p.E1317G	p.E1577G	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		19	5373	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		1317					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.4730A>G	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	A	16.60	3.168931	0.57584	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908	T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000002	T	0.52533	0.1740	L	0.59436	1.845	0.44123	D	0.996909	D;D;D	0.76494	0.999;0.995;0.996	D;P;P	0.72075	0.976;0.88;0.761	T	0.50898	-0.8773	10	0.52906	T	0.07	-17.3371	16.3797	0.83452	1.0:0.0:0.0:0.0	.	1070;1070;1317	Q9H4A3-2;F5GWT4;Q9H4A3	.;.;WNK1_HUMAN	G	1070;1317;1577;490;1815;910	ENSP00000441972:E1070G;ENSP00000313059:E1317G;ENSP00000444465:E1577G;ENSP00000433548:E1815G;ENSP00000341292:E910G	ENSP00000252477:E490G	E	+	2	0	WNK1	864181	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.825000	0.62708	2.271000	0.75665	0.533000	0.62120	GAA		0.478	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		37	71	0	0	0	0.00128727	0	37	71				
CDH12	1010	broad.mit.edu	37	5	21752115	21752115	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr5:21752115G>T	ENST00000382254.1	-	15	3202	c.2116C>A	c.(2116-2118)Ccc>Acc	p.P706T	CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.P706T|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000522262.1_Missense_Mutation_p.P666T	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	706					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)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TCTTCCATGGGTGGTCTCTGA	0.448										HNSCC(59;0.17)																												ENST00000382254.1																			0				NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(2116-2118)Ccc>Acc		cadherin 12, type 2 (N-cadherin 2)							238.0	207.0	218.0					5																	21752115		2203	4300	6503	SO:0001583	missense	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21752115G>T	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.2116C>A	5.37:g.21752115G>T	ENSP00000371689:p.Pro706Thr	HNSCC(59;0.17)				RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Missense_Mutation_p.P666T|CDH12_ENST00000504376.2_Missense_Mutation_p.P706T	p.P706T	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN			15	3202	-			706					B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.2116C>A	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	G	10.64	1.406256	0.25378	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.76060	-0.99;-0.99;-0.99	5.12	4.23	0.50019	Cadherin, cytoplasmic domain (1);	0.310817	0.34853	N	0.003624	T	0.81004	0.4733	L	0.45352	1.415	0.39286	D	0.964644	B;D	0.89917	0.05;1.0	B;D	0.87578	0.145;0.998	T	0.80616	-0.1303	10	0.33940	T	0.23	.	15.5232	0.75881	0.0:0.1389:0.8611:0.0	.	666;706	B7Z2U6;P55289	.;CAD12_HUMAN	T	706;706;666	ENSP00000423577:P706T;ENSP00000371689:P706T;ENSP00000428786:P666T	ENSP00000371689:P706T	P	-	1	0	CDH12	21787872	0.961000	0.32948	0.533000	0.28001	0.968000	0.65278	0.794000	0.26958	1.139000	0.42245	0.467000	0.42956	CCC		0.448	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		23	92	1	0	1.64293e-13	0.00047179	9.05554e-13	23	92				
MYH4	4622	broad.mit.edu	37	17	10362627	10362627	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr17:10362627C>T	ENST00000255381.2	-	15	1638	c.1528G>A	c.(1528-1530)Gag>Aag	p.E510K	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	510	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						AACTCCCACTCGATGCCTTCC	0.473																																						ENST00000255381.2																			0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(1528-1530)Gag>Aag		myosin, heavy chain 4, skeletal muscle							215.0	188.0	197.0					17																	10362627		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10362627C>T		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.1528G>A	17.37:g.10362627C>T	ENSP00000255381:p.Glu510Lys					CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.E510K	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			15	1638	-			510			Myosin head-like.			Missense_Mutation	SNP	ENST00000255381.2	37	c.1528G>A	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.954092	0.73902	.	.	ENSG00000141048	ENST00000255381	D	0.87650	-2.28	5.57	5.57	0.84162	Myosin head, motor domain (2);	0.197862	0.24050	U	0.042010	D	0.87826	0.6275	M	0.76170	2.325	0.44611	D	0.997582	P	0.37038	0.579	B	0.34180	0.177	D	0.88591	0.3143	10	0.72032	D	0.01	.	19.912	0.97027	0.0:1.0:0.0:0.0	.	510	Q9Y623	MYH4_HUMAN	K	510	ENSP00000255381:E510K	ENSP00000255381:E510K	E	-	1	0	MYH4	10303352	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.257000	0.51500	2.791000	0.96007	0.655000	0.94253	GAG		0.473	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		26	103	0	0	0	0.000586117	0	26	103				
OR4N4	283694	broad.mit.edu	37	15	22382574	22382574	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr15:22382574C>A	ENST00000328795.4	+	1	193	c.102C>A	c.(100-102)ttC>ttA	p.F34L	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	34						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCTTAATTTTCTACCTTATCA	0.423																																						ENST00000328795.4																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40						c.(100-102)ttC>ttA		olfactory receptor, family 4, subfamily N, member 4							179.0	179.0	179.0					15																	22382574		2190	4263	6453	SO:0001583	missense	283694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22382574C>A	AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"""GPCR / Class A : Olfactory receptors"""	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.102C>A	15.37:g.22382574C>A	ENSP00000332500:p.Phe34Leu					RP11-69H14.6_ENST00000558896.1_RNA	p.F34L	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	193	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	34					Q6IEY3|Q6IF56	Missense_Mutation	SNP	ENST00000328795.4	37	c.102C>A	CCDS32173.1	.	.	.	.	.	.	.	.	.	.	.	5.061	0.196866	0.09599	.	.	ENSG00000183706	ENST00000328795	T	0.00625	6.14	3.24	3.24	0.37175	.	0.000000	0.50627	D	0.000108	T	0.00496	0.0016	N	0.11724	0.165	0.34850	D	0.74157	P	0.36753	0.568	B	0.40066	0.318	T	0.67628	-0.5622	10	0.15952	T	0.53	-21.6554	6.4571	0.21936	0.0:0.8617:0.0:0.1383	.	34	Q8N0Y3	OR4N4_HUMAN	L	34	ENSP00000332500:F34L	ENSP00000332500:F34L	F	+	3	2	OR4N4	19883938	0.000000	0.05858	0.910000	0.35882	0.010000	0.07245	-1.218000	0.02976	1.798000	0.52647	0.195000	0.17529	TTC		0.423	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1			67	98	1	0	2.36135e-34	0.000781405	1.42495e-33	67	98				
EPHA2	1969	broad.mit.edu	37	1	16475417	16475418	+	Frame_Shift_Ins	INS	-	-	CGCT			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr1:16475417_16475418insCGCT	ENST00000358432.5	-	3	432_433	c.278_279insAGCG	c.(277-279)cgtfs	p.-93fs	EPHA2_ENST00000461614.1_5'UTR	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2						activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	CAATGAAGATACGCTCAGCCTC	0.545																																						ENST00000358432.5																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(277-279)catfs		EPH receptor A2	Dasatinib(DB01254)																																			SO:0001589	frameshift_variant	1969				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	g.chr1:16475417_16475418insCGCT	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.275_278dupAGCG	1.37:g.16475418_16475421dupCGCT	ENSP00000351209:p.Arg93fs					EPHA2_ENST00000461614.1_5'UTR	p.H93fs	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	3	432_433	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	93					B5A968|Q8N3Z2	Frame_Shift_Ins	INS	ENST00000358432.5	37	c.278_279insAGCG	CCDS169.1																																																																																				0.545	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431		37	54						37	54	---	---	---	---
KIAA1522	57648	broad.mit.edu	37	1	33237578	33237578	+	Frame_Shift_Del	DEL	C	C	-	rs376731710		TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr1:33237578delC	ENST00000373480.1	+	6	2724	c.2621delC	c.(2620-2622)gcgfs	p.A874fs	KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000401073.2_Frame_Shift_Del_p.A933fs|KIAA1522_ENST00000373481.3_Frame_Shift_Del_p.A885fs	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	874	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CTCCATGCTGCGGTCCGACTC	0.706																																						ENST00000401073.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(2797-2799)ggfs		KIAA1522							9.0	12.0	11.0					1																	33237578		1900	4084	5984	SO:0001589	frameshift_variant	57648							g.chr1:33237578delC	AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.2621delC	1.37:g.33237578delC	ENSP00000362579:p.Ala874fs					KIAA1522_ENST00000373480.1_Frame_Shift_Del_p.A874fs|KIAA1522_ENST00000373481.3_Frame_Shift_Del_p.A885fs|KIAA1522_ENST00000294521.3_Intron	p.A933fs	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN			6	2868	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	874			Pro-rich.		B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Frame_Shift_Del	DEL	ENST00000373480.1	37	c.2798delC	CCDS55588.1																																																																																				0.706	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1			8	21						8	21	---	---	---	---
ZMYM1	79830	broad.mit.edu	37	1	35578796	35578798	+	In_Frame_Del	DEL	TAT	TAT	-			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr1:35578796_35578798delTAT	ENST00000373330.1	+	11	1539_1541	c.1365_1367delTAT	c.(1363-1368)agtatt>agt	p.I456del	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_In_Frame_Del_p.I456del			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	456						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AATCACGAAGTATTAAAAAATCT	0.3																																						ENST00000373330.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31						c.(1363-1368)agt>ag		zinc finger, MYM-type 1																																				SO:0001651	inframe_deletion	79830					nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding	g.chr1:35578796_35578798delTAT	AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"""Zinc fingers, MYM type"""	26253	protein-coding gene	gene with protein product			"""zinc finger, MYM domain containing 1"""			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.1365_1367delTAT	1.37:g.35578796_35578798delTAT	ENSP00000362427:p.Ile456del					ZMYM1_ENST00000359858.4_In_Frame_Del_p.SI455del|ZMYM1_ENST00000373329.1_3'UTR	p.SI455del			Q5SVZ6	ZMYM1_HUMAN			11	1539_1541	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	455					D3DPR7|Q7Z3Q4	In_Frame_Del	DEL	ENST00000373330.1	37	c.1365_1367delTAT	CCDS41302.1																																																																																				0.300	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012705.1	NM_024772		19	31						19	31	---	---	---	---
NOTCH2	4853	broad.mit.edu	37	1	120612003	120612004	+	Frame_Shift_Del	DEL	GG	GG	-	rs372504208		TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr1:120612003_120612004delGG	ENST00000256646.2	-	1	236_237	c.17_18delCC	c.(16-18)cccfs	p.P6fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	6					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.P6fs*27(2)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGCAGAGCGGGGCGCAGGGC	0.762			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													ENST00000256646.2				Dom	yes		1	1p13-p11	4853	"""N, F, Mis"""	Notch homolog 2			L			"""marginal zone lymphoma, DLBCL"""		2	Deletion - Frameshift(2)	p.P6fs*27(2)	haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(16-18)cfs		notch 2																																				SO:0001589	frameshift_variant	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120612003_120612004delGG	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.17_18delCC	1.37:g.120612005_120612006delGG	ENSP00000256646:p.Pro6fs						p.P6fs	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	236_237	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	6					Q5T3X7|Q99734|Q9H240	Frame_Shift_Del	DEL	ENST00000256646.2	37	c.17_18delCC	CCDS908.1																																																																																				0.762	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		7	50						7	50	---	---	---	---
FOSL2	2355	broad.mit.edu	37	2	28634924	28634925	+	Frame_Shift_Ins	INS	-	-	GC			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr2:28634924_28634925insGC	ENST00000264716.4	+	4	1453_1454	c.590_591insGC	c.(589-594)gagcgcfs	p.ER197fs	FOSL2_ENST00000545753.1_Frame_Shift_Ins_p.ER158fs|FOSL2_ENST00000379619.1_Frame_Shift_Ins_p.ER189fs	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	197					cell death (GO:0008219)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to progesterone (GO:0032570)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					AGCCCCGAGGAGCGCCGATCGC	0.639																																						ENST00000264716.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(589-591)gcgfs		FOS-like antigen 2																																				SO:0001589	frameshift_variant	2355				cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:28634924_28634925insGC		CCDS1766.1	2p23.3	2013-01-10			ENSG00000075426	ENSG00000075426		"""basic leucine zipper proteins"""	3798	protein-coding gene	gene with protein product		601575					Standard	NM_005253		Approved	FRA2, FLJ23306	uc002rma.3	P15408	OTTHUMG00000097832	ENST00000264716.4:c.593_594dupGC	2.37:g.28634927_28634928dupGC	ENSP00000264716:p.Glu197fs					FOSL2_ENST00000379619.1_Frame_Shift_Ins_p.A189fs|FOSL2_ENST00000545753.1_Frame_Shift_Ins_p.A158fs	p.A197fs	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN			4	1453_1454	+	Acute lymphoblastic leukemia(172;0.155)		197					B2RD58|B3KP27|B4DYV4|Q6FG46	Frame_Shift_Ins	INS	ENST00000264716.4	37	c.590_591insGC	CCDS1766.1																																																																																				0.639	FOSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215116.2	NM_005253		29	70						29	70	---	---	---	---
IGKV1-8	28942	broad.mit.edu	37	2	89292328	89292328	+	RNA	DEL	C	C	-			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr2:89292328delC	ENST00000495489.1	-	0	102									immunoglobulin kappa variable 1-8																		TGAGTAAATTCCTAGTGTTCT	0.502																																						ENST00000495489.1																			0																				147.0	151.0	150.0					2																	89292328		1912	4121	6033			28942							g.chr2:89292328delC	Z00014		2p11.2	2012-02-10			ENSG00000240671	ENSG00000240671		"""Immunoglobulins / IGK locus"""	5743	other	immunoglobulin gene							Standard	NG_000834		Approved	IGKV18, L9			OTTHUMG00000151634		2.37:g.89292328delC														0	102	-									RNA	DEL	ENST00000495489.1	37																																																																																						0.502	IGKV1-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323358.1	NG_000834		45	181						45	181	---	---	---	---
IGKV1D-8	28904	broad.mit.edu	37	2	90259849	90259849	+	RNA	DEL	G	G	-			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr2:90259849delG	ENST00000471857.1	+	0	236									immunoglobulin kappa variable 1D-8																		AGAACACTATGAATTTACTCA	0.483																																						ENST00000471857.1																			0																				137.0	142.0	141.0					2																	90259849		1198	2526	3724			28904							g.chr2:90259849delG	Z00008		2p11.2	2012-02-08			ENSG00000239819	ENSG00000239819		"""Immunoglobulins / IGK locus"""	5759	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151570		2.37:g.90259849delG														0	236	+									RNA	DEL	ENST00000471857.1	37																																																																																						0.483	IGKV1D-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323145.2	NG_000833		11	208						11	208	---	---	---	---
KCNJ3	3760	broad.mit.edu	37	2	155711297	155711297	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr2:155711297delT	ENST00000295101.2	+	3	1455	c.978delT	c.(976-978)cgtfs	p.R326fs	KCNJ3_ENST00000493505.1_3'UTR|KCNJ3_ENST00000544049.1_3'UTR	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	KCNJ3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	326					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to electrical stimulus (GO:0051602)|synaptic transmission (GO:0007268)	external side of plasma membrane (GO:0009897)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	GGGGTCATCGTTTTTTTCCTG	0.383																																						ENST00000295101.2																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54						c.(976-978)cgfs		potassium inwardly-rectifying channel, subfamily J, member 3	Halothane(DB01159)						126.0	129.0	128.0					2																	155711297		2203	4300	6503	SO:0001589	frameshift_variant	3760				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr2:155711297delT	U50964	CCDS2200.1, CCDS58733.1	2q24.1	2011-07-05			ENSG00000162989	ENSG00000162989		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6264	protein-coding gene	gene with protein product		601534				8088798, 16382105	Standard	NM_002239		Approved	Kir3.1, GIRK1, KGA	uc002tyv.2	P48549	OTTHUMG00000131937	ENST00000295101.2:c.978delT	2.37:g.155711297delT	ENSP00000295101:p.Arg326fs					KCNJ3_ENST00000493505.1_3'UTR|KCNJ3_ENST00000544049.1_3'UTR	p.R326fs	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN			3	1455	+			326					B4DEW7|Q8TBI0	Frame_Shift_Del	DEL	ENST00000295101.2	37	c.978delT	CCDS2200.1																																																																																				0.383	KCNJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254890.2	NM_002239		20	57						20	57	---	---	---	---
HYAL2	8692	broad.mit.edu	37	3	50356381	50356389	+	Splice_Site	DEL	GCTTACCGT	GCTTACCGT	-	rs201976155|rs367807364		TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr3:50356381_50356389delGCTTACCGT	ENST00000447092.1	-	2	3301_3304	c.1009_1012delACGGTAAGC	c.(1009-1014)acggta>ta	p.TV337del	HYAL2_ENST00000395139.3_Splice_Site_p.TV337del|TUSC2_ENST00000462137.1_5'Flank|HYAL2_ENST00000357750.4_Splice_Site_p.TV337del|HYAL2_ENST00000442581.1_Splice_Site_p.TV337del			Q12891	HYAL2_HUMAN	hyaluronoglucosaminidase 2	337					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|defense response to virus (GO:0051607)|fusion of virus membrane with host plasma membrane (GO:0019064)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hematopoietic progenitor cell differentiation (GO:0002244)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|kidney development (GO:0001822)|monocyte activation (GO:0042117)|multicellular organismal aging (GO:0010259)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|response to antibiotic (GO:0046677)|response to reactive oxygen species (GO:0000302)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|transformation of host cell by virus (GO:0019087)|viral entry into host cell (GO:0046718)	anchored component of external side of plasma membrane (GO:0031362)|anchored component of plasma membrane (GO:0046658)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|lysosome (GO:0005764)|membrane raft (GO:0045121)|microvillus (GO:0005902)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|hyaluronic acid binding (GO:0005540)|hyaluronoglucuronidase activity (GO:0033906)|hyalurononglucosaminidase activity (GO:0004415)|receptor signaling protein tyrosine kinase inhibitor activity (GO:0030294)|receptor tyrosine kinase binding (GO:0030971)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)			breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GCTGGGTCTCGCTTACCGTGCTTGTGGTG	0.584																																						ENST00000447092.1																			0				breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1)	7						c.e2+1		hyaluronoglucosaminidase 2	Hyaluronidase(DB00070)																																			SO:0001630	splice_region_variant	8692					anchored to membrane|lysosome|plasma membrane	hyalurononglucosaminidase activity|receptor activity	g.chr3:50356381_50356389delGCTTACCGT	AJ000099	CCDS2818.1	3p21.3	2008-07-18			ENSG00000068001	ENSG00000068001			5321	protein-coding gene	gene with protein product	"""lysosomal hyaluronidase"", ""PH-20 homolog"", ""hyaluronidase 2"""	603551				9712871, 9790770	Standard	NM_003773		Approved	LuCa-2, LUCA2	uc003czv.3	Q12891	OTTHUMG00000156876	ENST00000447092.1:c.1011+1ACGGTAAGC>-	3.37:g.50356381_50356389delGCTTACCGT						HYAL2_ENST00000395139.3_Splice_Site_p.337_splice|HYAL2_ENST00000442581.1_Splice_Site_p.337_splice|HYAL2_ENST00000357750.4_Splice_Site_p.337_splice	p.337_splice			Q12891	HYAL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	2	3301_3304	-			337					B3KRZ2|O15177|Q9BW29	Splice_Site	DEL	ENST00000447092.1	37	c.1011_splice	CCDS2818.1																																																																																				0.584	HYAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346391.1	NM_003773	In_Frame_Del	9	43						9	43	---	---	---	---
CDH9	1007	broad.mit.edu	37	5	26881690	26881690	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr5:26881690delT	ENST00000231021.4	-	12	2097	c.1925delA	c.(1924-1926)aagfs	p.K642fs		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	642					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CAGAGGTTCCTTTTTTCTTTG	0.398																																					Melanoma(8;187 585 15745 40864 52829)	ENST00000231021.4																			0				breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						c.(1924-1926)agfs		cadherin 9, type 2 (T1-cadherin)							69.0	73.0	72.0					5																	26881690		2203	4300	6503	SO:0001589	frameshift_variant	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26881690delT	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1925delA	5.37:g.26881690delT	ENSP00000231021:p.Lys642fs						p.K642fs	NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN			12	2097	-			642					Q3B7I5	Frame_Shift_Del	DEL	ENST00000231021.4	37	c.1925delA	CCDS3893.1																																																																																				0.398	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		8	156						8	156	---	---	---	---
SUDS3P1	285647	broad.mit.edu	37	5	177398373	177398396	+	RNA	DEL	AGGACGAAGAGCTGGAGAGCGCCA	AGGACGAAGAGCTGGAGAGCGCCA	-	rs548039666|rs70994948|rs71585660|rs568597025|rs535774316	byFrequency	TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr5:177398373_177398396delAGGACGAAGAGCTGGAGAGCGCCA	ENST00000511650.1	+	0	145																											GTCCCCGGGGAGGACGAAGAGCTGGAGAGCGCCAAGGACGACGA	0.683														1220	0.24361	0.2678	0.3372	5008	,	,		15351	0.1548		0.2674	False		,,,				2504	0.2117					ENST00000511650.1																			0																																																			285647							g.chr5:177398373_177398396delAGGACGAAGAGCTGGAGAGCGCCA																													5.37:g.177398373_177398396delAGGACGAAGAGCTGGAGAGCGCCA														0	145	+									RNA	DEL	ENST00000511650.1	37																																																																																						0.683	RP11-1252I4.2-001	KNOWN	basic	antisense	antisense	OTTHUMT00000373553.1			4	6						4	6	---	---	---	---
TAS2R7	50837	broad.mit.edu	37	12	10954441	10954443	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr12:10954441_10954443delGAG	ENST00000240687.2	-	1	783_785	c.727_729delCTC	c.(727-729)ctcdel	p.L243del		NM_023919.2	NP_076408.1	Q9NYW3	TA2R7_HUMAN	taste receptor, type 2, member 7	243					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3)	10						AGGCAATAAAGAGGAGAAGGAAG	0.483																																						ENST00000240687.2																			0				kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3)	10						c.(727-729)del		taste receptor, type 2, member 7																																				SO:0001651	inframe_deletion	50837				sensory perception of taste	integral to membrane	taste receptor activity	g.chr12:10954441_10954443delGAG	AF227133	CCDS8631.1	12p13	2012-08-22			ENSG00000121377	ENSG00000121377		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14913	protein-coding gene	gene with protein product		604793				10761934, 10766242	Standard	NM_023919		Approved	T2R7, TRB4	uc001qyv.3	Q9NYW3	OTTHUMG00000168505	ENST00000240687.2:c.727_729delCTC	12.37:g.10954444_10954446delGAG	ENSP00000240687:p.Leu243del						p.L243del	NM_023919.2	NP_076408.1	Q9NYW3	TA2R7_HUMAN			1	783_785	-			243					Q645Y1	In_Frame_Del	DEL	ENST00000240687.2	37	c.727_729delCTC	CCDS8631.1																																																																																				0.483	TAS2R7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399931.1			10	61						10	61	---	---	---	---
PAPD5	64282	broad.mit.edu	37	16	50259097	50259097	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr16:50259097delT	ENST00000561678.1	+	9	1400	c.1326delT	c.(1324-1326)tgtfs	p.C442fs	PAPD5_ENST00000357464.3_Frame_Shift_Del_p.C473fs|PAPD5_ENST00000573002.1_Intron|PAPD5_ENST00000436909.3_Frame_Shift_Del_p.C552fs			Q8NDF8	PAPD5_HUMAN	PAP associated domain containing 5	443					histone mRNA catabolic process (GO:0071044)|mitotic nuclear division (GO:0007067)|mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)			endometrium(1)|kidney(1)|lung(2)	4		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		TTGGAAAATGTAGAAGTAAAA	0.393																																						ENST00000357464.3																			0				endometrium(1)|kidney(1)|lung(2)	4						c.(1417-1419)tgfs		PAP associated domain containing 5							104.0	98.0	100.0					16																	50259097		1856	4112	5968	SO:0001589	frameshift_variant	64282				cell division|DNA replication|histone mRNA catabolic process|mitosis	cytoplasm|nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding	g.chr16:50259097delT	AF089897	CCDS54006.1	16q12.1	2010-11-18				ENSG00000121274			30758	protein-coding gene	gene with protein product	"""TUTase3"""	605540				10066793	Standard	NM_001040284		Approved	TRF4-2	uc010vgo.2	Q8NDF8		ENST00000561678.1:c.1326delT	16.37:g.50259097delT	ENSP00000455837:p.Cys442fs					PAPD5_ENST00000561678.1_Frame_Shift_Del_p.C442fs|PAPD5_ENST00000436909.3_Frame_Shift_Del_p.C552fs|PAPD5_ENST00000573002.1_Intron	p.C473fs			Q8NDF8	PAPD5_HUMAN		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)	11	1419	+		all_cancers(37;0.0452)	443			Ser-rich.		B4DV38|Q9NW67|Q9Y6C0	Frame_Shift_Del	DEL	ENST00000561678.1	37	c.1419delT																																																																																					0.393	PAPD5-002	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000423150.1	NM_022447		11	26						11	26	---	---	---	---
CTC-490G23.2	0	broad.mit.edu	37	19	43835543	43835544	+	lincRNA	INS	-	-	T			TCGA-CV-7104-01A-11D-2012-08	TCGA-CV-7104-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f429401-f71e-4908-9663-2e66bacbebdd	b0f2c7dd-277a-4b14-af9d-0d07c789508a	g.chr19:43835543_43835544insT	ENST00000595748.1	-	0	38_39																											GCGGGGAGGGGCTGAGGGGGGC	0.619																																						ENST00000595748.1																			0																																																			0							g.chr19:43835543_43835544insT																													19.37:g.43835543_43835544insT														0	38_39	-									RNA	INS	ENST00000595748.1	37																																																																																						0.619	CTC-490G23.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000463917.1			8	32						8	32	---	---	---	---
