#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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
MRPL20	55052	broad.mit.edu	37	1	1341203	1341203	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr1:1341203C>A	ENST00000344843.7	-	3	357	c.262G>T	c.(262-264)Ggg>Tgg	p.G88W	MRPL20_ENST00000482352.1_Missense_Mutation_p.G88W|MRPL20_ENST00000493287.1_5'UTR|RN7SL657P_ENST00000582431.1_RNA	NM_017971.3	NP_060441.2	Q9BYC9	RM20_HUMAN	mitochondrial ribosomal protein L20	88					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)	p.G88W(1)		endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		ACTAAATTCCCAATGAGCGCT	0.448																																						ENST00000482352.1																			1	Substitution - Missense(1)	p.G88W(1)	prostate(1)	endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(262-264)Ggg>Tgg		mitochondrial ribosomal protein L20							172.0	169.0	170.0					1																	1341203		2203	4300	6503	SO:0001583	missense	55052						protein binding|rRNA binding	g.chr1:1341203C>A	AB049644	CCDS26.1	1p36.3-p36.2	2012-09-13			ENSG00000242485	ENSG00000242485		"""Mitochondrial ribosomal proteins / large subunits"""	14478	protein-coding gene	gene with protein product		611833					Standard	NM_017971		Approved	FLJ10024	uc001afo.4	Q9BYC9	OTTHUMG00000002916	ENST00000344843.7:c.262G>T	1.37:g.1341203C>A	ENSP00000341082:p.Gly88Trp					MRPL20_ENST00000344843.7_Missense_Mutation_p.G88W|MRPL20_ENST00000493287.1_5'UTR	p.G88W			Q9BYC9	RM20_HUMAN		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	3	334	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	88					B2RE41|B7Z746	Missense_Mutation	SNP	ENST00000344843.7	37	c.262G>T	CCDS26.1	.	.	.	.	.	.	.	.	.	.	c	14.05	2.419586	0.42918	.	.	ENSG00000242485	ENST00000344843	.	.	.	4.52	-3.74	0.04385	.	0.883737	0.10049	N	0.722523	T	0.41971	0.1182	L	0.53729	1.69	0.09310	N	1	D;P	0.71674	0.998;0.863	D;P	0.67382	0.951;0.703	T	0.32402	-0.9908	9	0.46703	T	0.11	2.1161	1.379	0.02226	0.1298:0.2004:0.2805:0.3894	.	88;88	B7Z746;Q9BYC9	.;RM20_HUMAN	W	88	.	ENSP00000341082:G88W	G	-	1	0	MRPL20	1331066	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.192000	0.09587	-0.575000	0.05982	0.542000	0.68232	GGG		0.448	MRPL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008139.1	NM_017971		13	289	13	289	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152284306	152284306	+	Missense_Mutation	SNP	G	G	A	rs193210331	byFrequency	TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr1:152284306G>A	ENST00000368799.1	-	3	3091	c.3056C>T	c.(3055-3057)gCg>gTg	p.A1019V	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1019	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.A1019V(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGGGATGACGCAGCCTGTCC	0.582									Ichthyosis				G|||	2	0.000399361	0.0	0.0	5008	,	,		20915	0.001		0.001	False		,,,				2504	0.0					ENST00000368799.1																			1	Substitution - Missense(1)	p.A1019V(1)	prostate(1)	autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(3055-3057)gCg>gTg		filaggrin		G	VAL/ALA	0,4406		0,0,2203	340.0	339.0	340.0		3056	-6.8	0.0	1		340	3,8597	3.7+/-12.6	0,3,4297	no	missense	FLG	NM_002016.1	64	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign	1019/4062	152284306	3,13003	2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152284306G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.3056C>T	1.37:g.152284306G>A	ENSP00000357789:p.Ala1019Val					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.A1019V	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3091	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1019			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.3056C>T	CCDS30860.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	7.401	0.632851	0.14322	0.0	3.49E-4	ENSG00000143631	ENST00000368799;ENST00000392689	T	0.00816	5.66	3.39	-6.78	0.01721	.	.	.	.	.	T	0.00300	0.0009	L	0.59912	1.85	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.45804	-0.9236	9	0.21540	T	0.41	.	0.8053	0.01083	0.3028:0.1557:0.3529:0.1886	.	1019	P20930	FILA_HUMAN	V	1019;226	ENSP00000357789:A1019V	ENSP00000357789:A1019V	A	-	2	0	FLG	150550930	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.451000	0.00466	-0.993000	0.03467	-2.367000	0.00236	GCG		0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		288	577	288	577	---	---	---	---
FCRL5	83416	broad.mit.edu	37	1	157504477	157504477	+	Silent	SNP	T	T	C			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr1:157504477T>C	ENST00000361835.3	-	8	1765	c.1608A>G	c.(1606-1608)tcA>tcG	p.S536S	FCRL5_ENST00000356953.4_Silent_p.S536S|FCRL5_ENST00000368189.3_Silent_p.S536S|FCRL5_ENST00000368190.3_Silent_p.S536S|FCRL5_ENST00000368191.3_Silent_p.S451S	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	536	Ig-like C2-type 5.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)		p.S536S(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AGTAATTCCCTGAATGTCCTT	0.512																																						ENST00000361835.3																			1	Substitution - coding silent(1)	p.S536S(1)	prostate(1)	breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85						c.(1606-1608)tcA>tcG		Fc receptor-like 5							56.0	56.0	56.0					1																	157504477		2203	4300	6503	SO:0001819	synonymous_variant	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157504477T>C	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.1608A>G	1.37:g.157504477T>C						FCRL5_ENST00000368189.3_Silent_p.S536S|FCRL5_ENST00000356953.4_Silent_p.S536S|FCRL5_ENST00000368190.3_Silent_p.S536S|FCRL5_ENST00000368191.3_Silent_p.S451S	p.S536S	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN			8	1765	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	536			Ig-like C2-type 5.		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Silent	SNP	ENST00000361835.3	37	c.1608A>G	CCDS1165.1																																																																																				0.512	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		31	55	31	55	---	---	---	---
CD244	51744	broad.mit.edu	37	1	160811398	160811398	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr1:160811398C>A	ENST00000368033.3	-	2	437	c.355G>T	c.(355-357)Gcc>Tcc	p.A119S	CD244_ENST00000368032.2_Missense_Mutation_p.A119S|CD244_ENST00000322302.7_Missense_Mutation_p.A119S|CD244_ENST00000368034.4_Missense_Mutation_p.A119S|CD244_ENST00000481677.1_5'Flank			Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	119	Ig-like 1.				blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TGGAACGTGGCTGTCTGAACT	0.463																																						ENST00000368034.4																			0				central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18						c.(355-357)Gcc>Tcc		CD244 molecule, natural killer cell receptor 2B4							57.0	57.0	57.0					1																	160811398		2203	4300	6503	SO:0001583	missense	51744				blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity	g.chr1:160811398C>A	AF105261	CCDS1210.1, CCDS53398.1, CCDS53399.1	1q23.1	2013-01-11	2006-03-29		ENSG00000122223	ENSG00000122223		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18171	protein-coding gene	gene with protein product		605554	"""natural killer cell receptor 2B4"", ""CD244 natural killer cell receptor 2B4"""			3772297, 10458320	Standard	NM_016382		Approved	2B4, NAIL, NKR2B4, Nmrk, SLAMF4	uc009wtq.3	Q9BZW8	OTTHUMG00000028606	ENST00000368033.3:c.355G>T	1.37:g.160811398C>A	ENSP00000357012:p.Ala119Ser					CD244_ENST00000322302.7_Missense_Mutation_p.A119S|CD244_ENST00000368033.3_Missense_Mutation_p.A119S|CD244_ENST00000368032.2_Missense_Mutation_p.A119S	p.A119S	NM_001166663.1|NM_001166664.1|NM_016382.3	NP_001160135.1|NP_001160136.1|NP_057466.1	Q9BZW8	CD244_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		2	532	-	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		119			Ig-like 1.		Q5VYI2|Q5VYI6|Q5VYI7|Q96T47|Q9NQD2|Q9NQD3|Q9Y288	Missense_Mutation	SNP	ENST00000368033.3	37	c.355G>T	CCDS53399.1	.	.	.	.	.	.	.	.	.	.	C	6.500	0.460489	0.12342	.	.	ENSG00000122223	ENST00000368034;ENST00000368033;ENST00000322302;ENST00000368032	T;T;T;T	0.45276	1.16;0.9;0.9;1.16	4.36	-8.07	0.01098	Immunoglobulin subtype (1);Natural killer cell receptor 2B4 immunoglobulin domain (1);Immunoglobulin-like fold (1);	4.924670	0.00166	N	0.000016	T	0.13713	0.0332	L	0.36672	1.1	0.09310	N	1	P;B;B	0.40834	0.73;0.441;0.098	B;B;B	0.44224	0.444;0.206;0.049	T	0.29427	-1.0012	10	0.38643	T	0.18	-0.9466	3.6726	0.08280	0.101:0.4072:0.1255:0.3663	.	119;119;119	Q9BZW8-4;Q9BZW8;Q9BZW8-2	.;CD244_HUMAN;.	S	119	ENSP00000357013:A119S;ENSP00000357012:A119S;ENSP00000313619:A119S;ENSP00000357011:A119S	ENSP00000313619:A119S	A	-	1	0	CD244	159078022	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.771000	0.01789	-1.859000	0.01156	-0.793000	0.03317	GCC		0.463	CD244-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071469.1	NM_016382		4	122	4	122	---	---	---	---
DHX57	90957	broad.mit.edu	37	2	39088318	39088318	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr2:39088318T>C	ENST00000295373.6	-	5	1360	c.1234A>G	c.(1234-1236)Ata>Gta	p.I412V	AC018693.6_ENST00000442829.1_RNA|DHX57_ENST00000479345.2_5'UTR	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	412							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.I412V(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				AAAAGGGTTATCAAAGAATAT	0.423																																					Melanoma(191;1090 2095 4375 23729 47341)	ENST00000295373.6																			1	Substitution - Missense(1)	p.I412V(1)	prostate(1)	NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(1234-1236)Ata>Gta		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57							106.0	108.0	108.0					2																	39088318		2203	4300	6503	SO:0001583	missense	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39088318T>C	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.1234A>G	2.37:g.39088318T>C	ENSP00000295373:p.Ile412Val					DHX57_ENST00000479345.2_5'UTR	p.I412V	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN			5	1360	-		all_hematologic(82;0.248)	412					A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Missense_Mutation	SNP	ENST00000295373.6	37	c.1234A>G	CCDS1800.1	.	.	.	.	.	.	.	.	.	.	T	9.874	1.199748	0.22121	.	.	ENSG00000163214	ENST00000295373;ENST00000355320	T	0.25912	1.77	5.67	5.67	0.87782	Ubiquitin-conjugating enzyme/RWD-like (1);RWD domain (1);	0.106321	0.43579	D	0.000553	T	0.17662	0.0424	L	0.32530	0.975	0.41776	D	0.98979	B;B	0.20671	0.047;0.004	B;B	0.25405	0.06;0.028	T	0.12041	-1.0563	10	0.12766	T	0.61	.	8.039	0.30511	0.0:0.1547:0.0:0.8453	.	412;412	Q6P158-2;Q6P158	.;DHX57_HUMAN	V	412;310	ENSP00000295373:I412V	ENSP00000295373:I412V	I	-	1	0	DHX57	38941822	0.997000	0.39634	1.000000	0.80357	0.624000	0.37722	2.014000	0.40951	2.164000	0.68074	0.533000	0.62120	ATA		0.423	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		106	149	106	149	---	---	---	---
MYNN	55892	broad.mit.edu	37	3	169497118	169497118	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr3:169497118A>G	ENST00000349841.5	+	3	1492	c.829A>G	c.(829-831)Ata>Gta	p.I277V	RP11-362K14.5_ENST00000602342.1_RNA|MYNN_ENST00000356716.4_Missense_Mutation_p.I277V|MYNN_ENST00000544106.1_Missense_Mutation_p.I277V|MYNN_ENST00000392733.1_Missense_Mutation_p.I277V	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	277					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.I277V(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			TATGTCTAATATAGCCAGCGT	0.458																																						ENST00000349841.5																			1	Substitution - Missense(1)	p.I277V(1)	prostate(1)	breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(829-831)Ata>Gta		myoneurin							54.0	47.0	49.0					3																	169497118		2203	4300	6503	SO:0001583	missense	55892					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:169497118A>G	AF148848	CCDS3207.1, CCDS54671.1	3q26.31	2013-01-09			ENSG00000085274	ENSG00000085274		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	14955	protein-coding gene	gene with protein product		606042				10873615	Standard	NM_001185118		Approved	SBBIZ1, ZBTB31, ZNF902	uc010hwo.3	Q9NPC7		ENST00000349841.5:c.829A>G	3.37:g.169497118A>G	ENSP00000326240:p.Ile277Val					MYNN_ENST00000392733.1_Missense_Mutation_p.I277V|RP11-362K14.5_ENST00000602342.1_RNA|MYNN_ENST00000356716.4_Missense_Mutation_p.I277V|MYNN_ENST00000544106.1_Missense_Mutation_p.I277V	p.I277V	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)		3	1492	+	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		277					B2R6C9|Q6QHA6|Q6QHA7|Q6R3G1|Q6R3G2|Q6R4A0|Q7Z716|Q7Z717|Q86Z11|Q86Z12|Q9NS01|Q9UIW8	Missense_Mutation	SNP	ENST00000349841.5	37	c.829A>G	CCDS3207.1	.	.	.	.	.	.	.	.	.	.	A	9.432	1.085908	0.20390	.	.	ENSG00000085274	ENST00000356716;ENST00000349841;ENST00000392733;ENST00000544106	T;T;T;T	0.08807	3.21;3.21;3.05;3.05	5.38	4.23	0.50019	.	0.059687	0.64402	D	0.000002	T	0.08179	0.0204	N	0.14661	0.345	0.36924	D	0.891551	B;P	0.35745	0.005;0.518	B;P	0.44647	0.011;0.456	T	0.37174	-0.9717	10	0.48119	T	0.1	.	10.918	0.47148	0.9262:0.0:0.0737:0.0	.	277;277	Q9NPC7-2;Q9NPC7	.;MYNN_HUMAN	V	277	ENSP00000349150:I277V;ENSP00000326240:I277V;ENSP00000376492:I277V;ENSP00000440637:I277V	ENSP00000326240:I277V	I	+	1	0	MYNN	170979812	0.989000	0.36119	1.000000	0.80357	0.880000	0.50808	2.468000	0.45102	2.167000	0.68274	0.528000	0.53228	ATA		0.458	MYNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467801.1	NM_018657		28	59	28	59	---	---	---	---
OPA1	4976	broad.mit.edu	37	3	193374887	193374887	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr3:193374887C>A	ENST00000392438.3	+	21	2266	c.2032C>A	c.(2032-2034)Caa>Aaa	p.Q678K	OPA1_ENST00000361510.2_Missense_Mutation_p.Q733K|OPA1_ENST00000361828.2_Missense_Mutation_p.Q696K|OPA1_ENST00000361908.3_Missense_Mutation_p.Q715K|OPA1_ENST00000361715.2_Missense_Mutation_p.Q697K|OPA1_ENST00000361150.2_Missense_Mutation_p.Q679K	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	678					apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		GGAGACCCTACAAGAAGAATT	0.343																																						ENST00000361510.2																			0				breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(2197-2199)Caa>Aaa		optic atrophy 1 (autosomal dominant)							66.0	71.0	70.0					3																	193374887		2203	4300	6503	SO:0001583	missense	4976				apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding	g.chr3:193374887C>A	AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"""mitochondrial dynamin-like GTPase"", ""dynamin-like guanosine triphosphatase"", ""Dynamin-like 120 kDa protein, mitochondrial"""	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.2032C>A	3.37:g.193374887C>A	ENSP00000376233:p.Gln678Lys					OPA1_ENST00000361150.2_Missense_Mutation_p.Q679K|OPA1_ENST00000361715.2_Missense_Mutation_p.Q697K|OPA1_ENST00000392438.3_Missense_Mutation_p.Q678K|OPA1_ENST00000361908.3_Missense_Mutation_p.Q715K|OPA1_ENST00000361828.2_Missense_Mutation_p.Q696K	p.Q733K	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)	23	2431	+	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		678					D3DNW4	Missense_Mutation	SNP	ENST00000392438.3	37	c.2197C>A	CCDS43186.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.699765	0.68501	.	.	ENSG00000198836	ENST00000361908;ENST00000392438;ENST00000361510;ENST00000361715;ENST00000361828;ENST00000361150	D;D;D;D;D;D	0.94828	-3.11;-3.1;-3.09;-3.1;-3.1;-3.53	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.92394	0.7586	L	0.45051	1.395	0.80722	D	1	B;D;B;B;P;B;D;B	0.59357	0.023;0.965;0.023;0.023;0.94;0.023;0.985;0.041	B;B;B;B;B;B;B;B	0.43950	0.017;0.437;0.017;0.032;0.416;0.032;0.437;0.032	D	0.90647	0.4579	10	0.22706	T	0.39	-17.2609	18.996	0.92813	0.0:1.0:0.0:0.0	.	642;678;660;679;696;715;697;733	E5KLK2;O60313;E5KLK0;E5KLK1;E5KLJ6;E5KLJ7;E5KLJ9;E5KLJ5	.;OPA1_HUMAN;.;.;.;.;.;.	K	715;678;733;697;696;679	ENSP00000354681:Q715K;ENSP00000376233:Q678K;ENSP00000355324:Q733K;ENSP00000355311:Q697K;ENSP00000354429:Q696K;ENSP00000354781:Q679K	ENSP00000354781:Q679K	Q	+	1	0	OPA1	194857581	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.728000	0.84847	2.722000	0.93159	0.655000	0.94253	CAA		0.343	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2	NM_130837		4	201	4	201	---	---	---	---
ADH4	127	broad.mit.edu	37	4	100062745	100062745	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr4:100062745T>C	ENST00000265512.7	-	3	283	c.209A>G	c.(208-210)gAg>gGg	p.E70G	ADH4_ENST00000505590.1_Missense_Mutation_p.E89G|ADH4_ENST00000508393.1_Missense_Mutation_p.E89G|ADH4_ENST00000504581.1_5'Flank|ADH4_ENST00000423445.1_Missense_Mutation_p.E89G|RP11-696N14.1_ENST00000500358.2_RNA	NM_000670.3	NP_000661.2	P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	70					alcohol catabolic process (GO:0046164)|alcohol metabolic process (GO:0006066)|cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|quinone metabolic process (GO:1901661)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|all-trans retinal binding (GO:0005503)|benzaldehyde dehydrogenase activity (GO:0019115)|ethanol binding (GO:0035276)|NAD binding (GO:0051287)|NADPH:quinone reductase activity (GO:0003960)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)		ACCTGCAGCCTCATGGCCAAC	0.418																																						ENST00000508393.1																			0				NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18						c.(265-267)gAg>gGg		alcohol dehydrogenase 4 (class II), pi polypeptide	NADH(DB00157)						98.0	86.0	90.0					4																	100062745		2203	4300	6503	SO:0001583	missense	127				alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding	g.chr4:100062745T>C	M15943	CCDS34032.1	4q22	2008-02-05				ENSG00000198099	1.1.1.1	"""Alcohol dehydrogenases"""	252	protein-coding gene	gene with protein product		103740					Standard	NM_000670		Approved	ADH-2	uc003hun.3	P08319		ENST00000265512.7:c.209A>G	4.37:g.100062745T>C	ENSP00000265512:p.Glu70Gly					ADH4_ENST00000423445.1_Missense_Mutation_p.E89G|RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000265512.7_Missense_Mutation_p.E70G|ADH4_ENST00000505590.1_Missense_Mutation_p.E89G	p.E89G			P08319	ADH4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	4	431	-			70					A8K470|B4DIE7|C9J4A9|Q8TCD7	Missense_Mutation	SNP	ENST00000265512.7	37	c.266A>G	CCDS34032.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.159072	0.78226	.	.	ENSG00000198099	ENST00000508393;ENST00000265512;ENST00000423445;ENST00000505590;ENST00000512499;ENST00000504125	T;T;T;T;T;T	0.19532	2.14;2.14;2.14;2.14;2.14;2.14	4.44	3.27	0.37495	GroES-like (1);Alcohol dehydrogenase GroES-like (1);Alcohol dehydrogenase, zinc-type, conserved site (1);	0.000000	0.64402	D	0.000001	T	0.64713	0.2623	H	0.99789	4.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.74542	-0.3631	10	0.87932	D	0	-0.823	9.6217	0.39725	0.0:0.082:0.0:0.918	.	89;70	P08319-2;P08319	.;ADH4_HUMAN	G	89;70;89;89;89;70	ENSP00000424630:E89G;ENSP00000265512:E70G;ENSP00000397939:E89G;ENSP00000425416:E89G;ENSP00000423571:E89G;ENSP00000427525:E70G	ENSP00000265512:E70G	E	-	2	0	ADH4	100281768	1.000000	0.71417	0.996000	0.52242	0.976000	0.68499	4.911000	0.63328	0.757000	0.33036	0.533000	0.62120	GAG		0.418	ADH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364220.2	NM_000670		3	101	3	101	---	---	---	---
TNIP3	79931	broad.mit.edu	37	4	122063932	122063932	+	Splice_Site	SNP	C	C	A			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr4:122063932C>A	ENST00000509841.1	-	11	1045		c.e11-1		TNIP3_ENST00000057513.3_Splice_Site|TNIP3_ENST00000507879.1_Splice_Site|TNIP3_ENST00000511909.1_Splice_Site|TNIP3_ENST00000454328.1_Splice_Site	NM_001244764.1	NP_001231693.1			TNFAIP3 interacting protein 3									p.?(1)		NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						AAGCTTTTATCTAAAGACAAA	0.338																																						ENST00000454328.1																			1	Unknown(1)	p.?(1)	prostate(1)	NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						c.e10-1		TNFAIP3 interacting protein 3							136.0	139.0	138.0					4																	122063932		2203	4300	6503	SO:0001630	splice_region_variant	79931							g.chr4:122063932C>A	AJ320534	CCDS3718.1, CCDS58925.1, CCDS58926.1	4q27	2008-02-05			ENSG00000050730	ENSG00000050730			19315	protein-coding gene	gene with protein product		608019				11345586	Standard	NM_024873		Approved	LIND, FLJ21162, ABIN-3	uc021xrj.1	Q96KP6	OTTHUMG00000132969	ENST00000509841.1:c.967-1G>T	4.37:g.122063932C>A						TNIP3_ENST00000509841.1_Splice_Site|TNIP3_ENST00000057513.3_Splice_Site|TNIP3_ENST00000507879.1_Splice_Site|TNIP3_ENST00000511909.1_Splice_Site				Q96KP6	TNIP3_HUMAN			10	963	-									Splice_Site	SNP	ENST00000509841.1	37		CCDS58926.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.443662	0.43429	.	.	ENSG00000050730	ENST00000057513;ENST00000454328;ENST00000507879;ENST00000509841	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6625	0.77199	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TNIP3	122283382	1.000000	0.71417	0.991000	0.47740	0.614000	0.37383	2.262000	0.43285	2.611000	0.88343	0.650000	0.86243	.		0.338	TNIP3-003	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364000.4	NM_024873	Intron	34	163	34	163	---	---	---	---
NEK1	4750	broad.mit.edu	37	4	170458976	170458976	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr4:170458976C>T	ENST00000439128.2	-	18	2289	c.1649G>A	c.(1648-1650)cGa>cAa	p.R550Q	NEK1_ENST00000507142.1_Missense_Mutation_p.R550Q|NEK1_ENST00000512193.1_Missense_Mutation_p.R481Q|NEK1_ENST00000510533.1_Missense_Mutation_p.R506Q|NEK1_ENST00000511633.1_Missense_Mutation_p.R506Q	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	550					cellular response to DNA damage stimulus (GO:0006974)|cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.R550Q(2)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		TCCTTCGGCTCGAGCTTTATT	0.383																																						ENST00000439128.2																			2	Substitution - Missense(2)	p.R550Q(2)	prostate(2)	NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45						c.(1648-1650)cGa>cAa		NIMA-related kinase 1							260.0	249.0	252.0					4																	170458976		1854	4090	5944	SO:0001583	missense	4750				cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr4:170458976C>T	AB067488	CCDS47162.1, CCDS56348.1, CCDS56349.1, CCDS56350.1, CCDS56351.1	4q32.3	2012-11-15	2012-11-15		ENSG00000137601	ENSG00000137601			7744	protein-coding gene	gene with protein product		604588	"""NIMA (never in mitosis gene a)-related kinase 1"""			1382974, 8274451	Standard	NM_012224		Approved	NY-REN-55, KIAA1901	uc003isd.2	Q96PY6	OTTHUMG00000160963	ENST00000439128.2:c.1649G>A	4.37:g.170458976C>T	ENSP00000408020:p.Arg550Gln					NEK1_ENST00000507142.1_Missense_Mutation_p.R550Q|NEK1_ENST00000510533.1_Missense_Mutation_p.R506Q|NEK1_ENST00000511633.1_Missense_Mutation_p.R506Q|NEK1_ENST00000512193.1_Missense_Mutation_p.R481Q	p.R550Q	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)	18	2289	-		Prostate(90;0.00601)|Renal(120;0.0183)	550					G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	Missense_Mutation	SNP	ENST00000439128.2	37	c.1649G>A	CCDS47162.1	.	.	.	.	.	.	.	.	.	.	C	30	5.057485	0.93846	.	.	ENSG00000137601	ENST00000439128;ENST00000511633;ENST00000510533;ENST00000507142;ENST00000512193	T;D;T;T;T	0.85258	-1.0;-1.96;-0.74;-1.39;-0.74	5.82	5.82	0.92795	.	0.000000	0.53938	D	0.000049	D	0.92179	0.7520	M	0.71581	2.175	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;1.0;0.999;0.999	D	0.91262	0.5037	10	0.48119	T	0.1	.	19.6896	0.95993	0.0:1.0:0.0:0.0	.	481;506;550;506;550	Q96PY6-4;G5E9Z3;Q96PY6-3;Q96PY6-2;Q96PY6	.;.;.;.;NEK1_HUMAN	Q	550;506;506;550;481	ENSP00000408020:R550Q;ENSP00000423332:R506Q;ENSP00000427653:R506Q;ENSP00000424757:R550Q;ENSP00000424938:R481Q	ENSP00000408020:R550Q	R	-	2	0	NEK1	170695551	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	6.040000	0.70980	2.752000	0.94435	0.585000	0.79938	CGA		0.383	NEK1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363157.3			11	503	11	503	---	---	---	---
PCDHA3	56145	broad.mit.edu	37	5	140180975	140180975	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr5:140180975C>T	ENST00000522353.2	+	1	193	c.193C>T	c.(193-195)Cgg>Tgg	p.R65W	PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.R65W	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	65	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCCTGTTCCGGGTGGCGTC	0.617																																						ENST00000522353.2																			0				NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95						c.(193-195)Cgg>Tgg									57.0	70.0	66.0					5																	140180975		2203	4294	6497	SO:0001583	missense	56145							g.chr5:140180975C>T	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.193C>T	5.37:g.140180975C>T	ENSP00000429808:p.Arg65Trp					PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.R65W|PCDHA2_ENST00000520672.2_Intron	p.R65W	NM_018906.2	NP_061729.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	193	+								O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.193C>T	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	c	20.4	3.980912	0.74474	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.38887	1.11;1.11	4.48	3.58	0.41010	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.000000	0.37955	U	0.001876	T	0.78130	0.4235	H	0.99117	4.435	0.40488	D	0.980514	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.993	D	0.87025	0.2131	10	0.87932	D	0	.	13.635	0.62217	0.1614:0.8386:0.0:0.0	.	65;65	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	W	65	ENSP00000429808:R65W;ENSP00000434086:R65W	ENSP00000429808:R65W	R	+	1	2	PCDHA3	140161159	0.994000	0.37717	1.000000	0.80357	0.978000	0.69477	3.208000	0.51114	0.963000	0.38082	0.586000	0.80456	CGG		0.617	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		5	231	5	231	---	---	---	---
PCDHB5	26167	broad.mit.edu	37	5	140515710	140515710	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr5:140515710G>A	ENST00000231134.5	+	1	911	c.694G>A	c.(694-696)Gtc>Atc	p.V232I		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	232	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V232I(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGCATTGTCGTCTTGGATAA	0.552																																						ENST00000231134.5																			1	Substitution - Missense(1)	p.V232I(1)	prostate(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81						c.(694-696)Gtc>Atc									129.0	143.0	138.0					5																	140515710		2203	4300	6503	SO:0001583	missense	26167				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140515710G>A	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.694G>A	5.37:g.140515710G>A	ENSP00000231134:p.Val232Ile						p.V232I	NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	911	+			232			Cadherin 2.		Q549F4|Q9UFU9	Missense_Mutation	SNP	ENST00000231134.5	37	c.694G>A	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	G	11.82	1.751781	0.31046	.	.	ENSG00000113209	ENST00000231134;ENST00000537936	T	0.61510	0.1	5.37	3.55	0.40652	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.49490	0.1560	L	0.46741	1.465	0.09310	N	1	B	0.32324	0.364	B	0.33254	0.16	T	0.42666	-0.9438	9	0.44086	T	0.13	.	8.9877	0.36003	0.328:0.0:0.672:0.0	.	232	Q9Y5E4	PCDB5_HUMAN	I	232;16	ENSP00000231134:V232I	ENSP00000231134:V232I	V	+	1	0	PCDHB5	140495894	0.998000	0.40836	0.994000	0.49952	0.867000	0.49689	2.645000	0.46621	1.411000	0.46957	0.555000	0.69702	GTC		0.552	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		33	433	33	433	---	---	---	---
PCDHB13	56123	broad.mit.edu	37	5	140595717	140595717	+	Silent	SNP	G	G	T	rs61739278		TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr5:140595717G>T	ENST00000341948.4	+	1	2209	c.2022G>T	c.(2020-2022)ccG>ccT	p.P674P		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	674					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCCTCTCCCGGAGGCGGCCC	0.677													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15653	0.0		0.0	False		,,,				2504	0.0					ENST00000341948.4																			0				NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66						c.(2020-2022)ccG>ccT				G		1,4323		0,1,2161	58.0	65.0	63.0		2022	-6.6	0.0	5	dbSNP_129	63	0,8452		0,0,4226	no	coding-synonymous	PCDHB13	NM_018933.2		0,1,6387	TT,TG,GG		0.0,0.0231,0.0078		674/799	140595717	1,12775	2162	4226	6388	SO:0001819	synonymous_variant	56123				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140595717G>T	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.2022G>T	5.37:g.140595717G>T							p.P674P	NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2209	+			674					A8K9V6	Silent	SNP	ENST00000341948.4	37	c.2022G>T	CCDS4255.1																																																																																				0.677	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		4	199	4	199	---	---	---	---
NRCAM	4897	broad.mit.edu	37	7	107834822	107834822	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr7:107834822T>A	ENST00000425651.2	-	13	1513	c.1514A>T	c.(1513-1515)cAt>cTt	p.H505L	NRCAM_ENST00000413765.2_Missense_Mutation_p.H486L|NRCAM_ENST00000351718.4_Missense_Mutation_p.H499L|NRCAM_ENST00000379028.3_Missense_Mutation_p.H505L|NRCAM_ENST00000379024.4_Missense_Mutation_p.H486L|NRCAM_ENST00000379022.4_Missense_Mutation_p.H505L	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	505	Ig-like 5.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)	p.H499L(1)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TCCATTTTCATGTAAAACATA	0.333																																						ENST00000379028.3																			1	Substitution - Missense(1)	p.H499L(1)	prostate(1)	breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						c.(1513-1515)cAt>cTt		neuronal cell adhesion molecule							81.0	76.0	78.0					7																	107834822		2203	4300	6503	SO:0001583	missense	4897				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	g.chr7:107834822T>A		CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.1514A>T	7.37:g.107834822T>A	ENSP00000401244:p.His505Leu					NRCAM_ENST00000413765.2_Missense_Mutation_p.H486L|NRCAM_ENST00000425651.2_Missense_Mutation_p.H505L|NRCAM_ENST00000379024.4_Missense_Mutation_p.H486L|NRCAM_ENST00000379022.4_Missense_Mutation_p.H505L|NRCAM_ENST00000351718.4_Missense_Mutation_p.H499L	p.H505L			Q92823	NRCAM_HUMAN			16	1984	-			505			Ig-like 5.		A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	ENST00000425651.2	37	c.1514A>T	CCDS47686.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.559148	0.86335	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022;ENST00000445979	T;T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21;-0.21	5.83	5.83	0.93111	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.64983	0.2648	N	0.11341	0.13	0.80722	D	1	P;D;P;P;B	0.89917	0.849;1.0;0.908;0.659;0.197	B;D;P;B;B	0.91635	0.395;0.999;0.737;0.398;0.157	T	0.61594	-0.7031	10	0.09338	T	0.73	.	16.2147	0.82198	0.0:0.0:0.0:1.0	.	505;486;486;499;505	Q92823-5;Q92823-3;E9PDA4;Q92823-4;Q92823	.;.;.;.;NRCAM_HUMAN	L	505;505;486;505;499;486;505;505;499	ENSP00000368314:H505L;ENSP00000407858:H486L;ENSP00000325269:H499L;ENSP00000368310:H486L;ENSP00000401244:H505L;ENSP00000368308:H505L	ENSP00000325269:H499L	H	-	2	0	NRCAM	107622058	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.499000	0.81566	2.231000	0.72958	0.460000	0.39030	CAT		0.333	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		62	116	62	116	---	---	---	---
SYK	6850	broad.mit.edu	37	9	93637062	93637062	+	Missense_Mutation	SNP	C	C	T	rs369986984		TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr9:93637062C>T	ENST00000375754.4	+	9	1260	c.1112C>T	c.(1111-1113)aCg>aTg	p.T371M	SYK_ENST00000375746.1_Missense_Mutation_p.T371M|SYK_ENST00000375751.4_Missense_Mutation_p.T348M|SYK_ENST00000375747.1_Missense_Mutation_p.T348M	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	371	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|B cell receptor signaling pathway (GO:0050853)|beta selection (GO:0043366)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|cell proliferation (GO:0008283)|cellular response to molecule of fungal origin (GO:0071226)|defense response to bacterium (GO:0042742)|enzyme linked receptor protein signaling pathway (GO:0007167)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte activation involved in immune response (GO:0002366)|leukocyte cell-cell adhesion (GO:0007159)|leukotriene biosynthetic process (GO:0019370)|lymph vessel development (GO:0001945)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|neutrophil chemotaxis (GO:0030593)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of bone resorption (GO:0045780)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of arachidonic acid secretion (GO:0090237)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of neutrophil degranulation (GO:0043313)|regulation of phagocytosis (GO:0050764)|regulation of platelet activation (GO:0010543)|regulation of platelet aggregation (GO:0090330)|regulation of superoxide anion generation (GO:0032928)|serotonin secretion by platelet (GO:0002554)|viral process (GO:0016032)	B cell receptor complex (GO:0019815)|cytosol (GO:0005829)|early phagosome (GO:0032009)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|integrin binding (GO:0005178)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)	p.T348M(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						AAGCTGCTGACGCTGGAAGAC	0.522			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""																																	ENST00000375754.4				Dom	yes		9	9q22	6850	T	spleen tyrosine kinase			L	"""ETV6, ITK"""		"""MDS, peripheral T-cell lymphoma"""		1	Substitution - Missense(1)	p.T348M(1)	prostate(1)	breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						c.(1111-1113)aCg>aTg		spleen tyrosine kinase		C	MET/THR,MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	140.0	151.0	147.0		1043,1112,1043,1112	4.3	1.0	9		147	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	SYK	NM_001135052.2,NM_001174167.1,NM_001174168.1,NM_003177.5	81,81,81,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign	348/613,371/636,348/613,371/636	93637062	1,13005	2203	4300	6503	SO:0001583	missense	6850				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity	g.chr9:93637062C>T	L28824	CCDS6688.1, CCDS47992.1	9q22	2013-02-14			ENSG00000165025	ENSG00000165025		"""SH2 domain containing"""	11491	protein-coding gene	gene with protein product		600085				8082894, 1423621	Standard	XM_005252147		Approved		uc004aqz.3	P43405	OTTHUMG00000020200	ENST00000375754.4:c.1112C>T	9.37:g.93637062C>T	ENSP00000364907:p.Thr371Met					SYK_ENST00000375746.1_Missense_Mutation_p.T371M|SYK_ENST00000375751.4_Missense_Mutation_p.T348M|SYK_ENST00000375747.1_Missense_Mutation_p.T348M	p.T371M	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN			9	1260	+			371			Protein kinase.			Missense_Mutation	SNP	ENST00000375754.4	37	c.1112C>T	CCDS6688.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.093564	0.56075	0.0	1.16E-4	ENSG00000165025	ENST00000375754;ENST00000375751;ENST00000375747;ENST00000375746	T;T;T;T	0.74106	-0.81;-0.79;-0.79;-0.81	4.29	4.29	0.51040	Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.186068	0.45867	D	0.000331	T	0.72630	0.3484	L	0.29908	0.895	0.53005	D	0.999969	D;D	0.55605	0.966;0.972	P;P	0.57371	0.723;0.819	T	0.68992	-0.5263	10	0.27785	T	0.31	.	11.8482	0.52397	0.0:0.9148:0.0:0.0851	.	348;371	P43405-2;P43405	.;KSYK_HUMAN	M	371;348;348;371	ENSP00000364907:T371M;ENSP00000364904:T348M;ENSP00000364899:T348M;ENSP00000364898:T371M	ENSP00000364898:T371M	T	+	2	0	SYK	92676883	0.012000	0.17670	0.998000	0.56505	0.911000	0.54048	1.075000	0.30716	2.387000	0.81309	0.655000	0.94253	ACG		0.522	SYK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053018.1			13	315	13	315	---	---	---	---
DDX50	79009	broad.mit.edu	37	10	70673941	70673941	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr10:70673941A>G	ENST00000373585.3	+	7	1177	c.1070A>G	c.(1069-1071)aAg>aGg	p.K357R	RNU6-571P_ENST00000384128.1_RNA	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	357						membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						ATGACTCAAAAGGCTGCAACT	0.338																																						ENST00000373585.3																			0				breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						c.(1069-1071)aAg>aGg		DEAD (Asp-Glu-Ala-Asp) box polypeptide 50							63.0	60.0	61.0					10																	70673941		2203	4300	6503	SO:0001583	missense	79009					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr10:70673941A>G	AF334103	CCDS7283.1	10q22.2	2010-09-30			ENSG00000107625	ENSG00000107625		"""DEAD-boxes"""	17906	protein-coding gene	gene with protein product		610373				11891046	Standard	NM_024045		Approved	GU2, MGC3199, GUB, RH-II/GuB	uc001jou.3	Q9BQ39	OTTHUMG00000018362	ENST00000373585.3:c.1070A>G	10.37:g.70673941A>G	ENSP00000362687:p.Lys357Arg						p.K357R	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN			7	1177	+			357					Q5VX37|Q8WV76|Q9BWI8	Missense_Mutation	SNP	ENST00000373585.3	37	c.1070A>G	CCDS7283.1	.	.	.	.	.	.	.	.	.	.	A	14.42	2.530250	0.45073	.	.	ENSG00000107625	ENST00000373585;ENST00000541832	T	0.20738	2.05	5.49	5.49	0.81192	DEAD-like helicase (1);	0.041067	0.85682	D	0.000000	T	0.16896	0.0406	N	0.17594	0.5	0.49483	D	0.999798	P;P	0.41475	0.468;0.751	B;B	0.42522	0.147;0.39	T	0.06338	-1.0832	10	0.27082	T	0.32	-9.7833	15.8838	0.79226	1.0:0.0:0.0:0.0	.	357;357	Q9BQ39;B4DED6	DDX50_HUMAN;.	R	357	ENSP00000362687:K357R	ENSP00000362687:K357R	K	+	2	0	DDX50	70343947	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.980000	0.70516	2.216000	0.71823	0.379000	0.24179	AAG		0.338	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048363.1	NM_024045		3	137	3	137	---	---	---	---
OR52R1	119695	broad.mit.edu	37	11	4825344	4825344	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr11:4825344C>A	ENST00000356069.2	-	1	266	c.267G>T	c.(265-267)tgG>tgT	p.W89C	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron|OR52R1_ENST00000380382.1_Missense_Mutation_p.W168C	NM_001005177.3	NP_001005177.3	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	89						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.W168C(1)|p.W88C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAGCATGAAACCAGAATATGG	0.527																																						ENST00000380382.1																			2	Substitution - Missense(2)	p.W168C(1)|p.W88C(1)	prostate(2)	breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29						c.(502-504)tgG>tgT		olfactory receptor, family 52, subfamily R, member 1							146.0	130.0	135.0					11																	4825344		2201	4298	6499	SO:0001583	missense	119695				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4825344C>A	BK004282	CCDS31360.1, CCDS31360.2	11p15.4	2012-08-09			ENSG00000176937	ENSG00000176937		"""GPCR / Class A : Olfactory receptors"""	15235	protein-coding gene	gene with protein product							Standard	NM_001005177		Approved		uc021qcs.1	Q8NGF1	OTTHUMG00000066510	ENST00000356069.2:c.267G>T	11.37:g.4825344C>A	ENSP00000348368:p.Trp89Cys					OR52R1_ENST00000356069.2_Missense_Mutation_p.W89C|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	p.W168C			Q8NGF1	O52R1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	503	-		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)	89					Q6IFI0	Missense_Mutation	SNP	ENST00000356069.2	37	c.504G>T	CCDS31360.2	.	.	.	.	.	.	.	.	.	.	C	15.46	2.839804	0.51057	.	.	ENSG00000176937	ENST00000356069;ENST00000380382	T;T	0.00392	7.58;7.58	5.47	5.47	0.80525	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000271	T	0.01222	0.0040	M	0.83692	2.655	0.53688	D	0.999975	D	0.89917	1.0	D	0.91635	0.999	T	0.65331	-0.6194	10	0.87932	D	0	.	18.2503	0.90000	0.0:1.0:0.0:0.0	.	89	Q8NGF1	O52R1_HUMAN	C	89;168	ENSP00000348368:W89C;ENSP00000369742:W168C	ENSP00000348368:W89C	W	-	3	0	OR52R1	4781920	0.809000	0.29036	1.000000	0.80357	0.914000	0.54420	1.433000	0.34947	2.893000	0.99171	0.638000	0.83543	TGG		0.527	OR52R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142183.1	NM_001005177		31	56	31	56	---	---	---	---
GIF	2694	broad.mit.edu	37	11	59608634	59608634	+	Silent	SNP	A	A	G			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr11:59608634A>G	ENST00000257248.2	-	5	722	c.675T>C	c.(673-675)agT>agC	p.S225S	GIF_ENST00000541311.1_Silent_p.S200S	NM_005142.2	NP_005133.2	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	225					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)	cobalamin binding (GO:0031419)	p.S225S(1)		large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17					Cyanocobalamin(DB00115)	CGAGGCCAGTACTGTAGATGT	0.463																																					NSCLC(53;1139 1245 16872 38474 42853)	ENST00000541311.1																			1	Substitution - coding silent(1)	p.S225S(1)	prostate(1)	large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						c.(598-600)agT>agC		gastric intrinsic factor (vitamin B synthesis)							254.0	220.0	232.0					11																	59608634		2201	4295	6496	SO:0001819	synonymous_variant	2694				cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding	g.chr11:59608634A>G	X76562	CCDS7977.1	11q12.1	2013-09-20			ENSG00000134812	ENSG00000134812			4268	protein-coding gene	gene with protein product		609342				2071148	Standard	NM_005142		Approved	TCN3, IF, IFMH, INF	uc001noi.3	P27352	OTTHUMG00000167399	ENST00000257248.2:c.675T>C	11.37:g.59608634A>G						GIF_ENST00000257248.2_Silent_p.S225S	p.S200S			P27352	IF_HUMAN			5	834	-			225					B2RAN8|B4DVZ1	Silent	SNP	ENST00000257248.2	37	c.600T>C	CCDS7977.1																																																																																				0.463	GIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394497.1	NM_005142		57	101	57	101	---	---	---	---
DUSP16	80824	broad.mit.edu	37	12	12630584	12630584	+	Missense_Mutation	SNP	T	T	C	rs529933489		TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr12:12630584T>C	ENST00000228862.2	-	7	1812	c.1181A>G	c.(1180-1182)aAt>aGt	p.N394S	DUSP16_ENST00000545864.1_5'Flank|DUSP16_ENST00000298573.4_3'UTR	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	394					dephosphorylation (GO:0016311)|inactivation of MAPK activity (GO:0000188)|MAPK export from nucleus (GO:0045204)|MAPK phosphatase export from nucleus, leptomycin B sensitive (GO:0045209)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.N394S(1)		endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		CTTGAGCTTATTGCTGTCTTC	0.552																																					Ovarian(158;443 1896 15437 36069 46477)	ENST00000228862.2																			1	Substitution - Missense(1)	p.N394S(1)	prostate(1)	endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26						c.(1180-1182)aAt>aGt		dual specificity phosphatase 16							84.0	86.0	85.0					12																	12630584		2203	4300	6503	SO:0001583	missense	80824				inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr12:12630584T>C	AB052156	CCDS8650.1	12p13	2011-06-09				ENSG00000111266		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	17909	protein-coding gene	gene with protein product	"""MAPK phosphatase-7"""	607175				11359773, 11489891, 15888437	Standard	NM_030640		Approved	MKP-7, KIAA1700, MKP7	uc001rao.2	Q9BY84		ENST00000228862.2:c.1181A>G	12.37:g.12630584T>C	ENSP00000228862:p.Asn394Ser					DUSP16_ENST00000298573.4_3'UTR	p.N394S	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0203)	7	1812	-		Prostate(47;0.0687)	394					Q547C7|Q96QS2|Q9C0G3	Missense_Mutation	SNP	ENST00000228862.2	37	c.1181A>G	CCDS8650.1	.	.	.	.	.	.	.	.	.	.	T	10.72	1.430563	0.25726	.	.	ENSG00000111266	ENST00000228862	T	0.02446	4.29	5.58	-10.6	0.00265	.	1.030640	0.07639	N	0.929921	T	0.02012	0.0063	L	0.31065	0.9	0.31816	N	0.626632	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.35649	-0.9780	10	0.44086	T	0.13	.	8.1408	0.31082	0.0:0.372:0.3007:0.3273	.	394;394	Q9BY84;Q96N49	DUS16_HUMAN;.	S	394	ENSP00000228862:N394S	ENSP00000228862:N394S	N	-	2	0	DUSP16	12521851	0.009000	0.17119	0.000000	0.03702	0.926000	0.56050	-0.717000	0.04986	-2.482000	0.00522	-0.468000	0.05107	AAT		0.552	DUSP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400311.1	NM_030640		53	91	53	91	---	---	---	---
HNF1A	6927	broad.mit.edu	37	12	121437365	121437365	+	Missense_Mutation	SNP	C	C	T	rs144674840		TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr12:121437365C>T	ENST00000257555.6	+	9	1929	c.1703C>T	c.(1702-1704)cCc>cTc	p.P568L	HNF1A_ENST00000544413.1_Missense_Mutation_p.P575L|RP11-216P16.2_ENST00000606238.1_RNA|HNF1A_ENST00000541395.1_Missense_Mutation_p.P599L			P20823	HNF1A_HUMAN	HNF1 homeobox A	568					glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|insulin secretion (GO:0030073)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|renal glucose absorption (GO:0035623)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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)|transcription regulatory region DNA binding (GO:0044212)	p.P568L(2)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CTCCACGTCCCCAGCCAGGAC	0.687									Hepatic Adenoma, Familial Clustering of																													ENST00000257555.6																			2	Substitution - Missense(2)	p.P568L(2)	prostate(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221						c.(1702-1704)cCc>cTc		HNF1 homeobox A		C	LEU/PRO	1,4399		0,1,2199	23.0	23.0	23.0		1703	5.7	1.0	12	dbSNP_134	23	0,8594		0,0,4297	no	missense	HNF1A	NM_000545.5	98	0,1,6496	TT,TC,CC		0.0,0.0227,0.0077	benign	568/632	121437365	1,12993	2200	4297	6497	SO:0001583	missense	6927	Hepatic Adenoma, Familial Clustering of	Familial Cancer Database	incl. Maturity-Onset Diabetes of the Young type 3, MODY3	glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr12:121437365C>T	M57732	CCDS9209.1	12q24.31	2014-09-17	2007-08-24	2007-08-24	ENSG00000135100	ENSG00000135100		"""Homeoboxes / HNF class"""	11621	protein-coding gene	gene with protein product		142410	"""transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor"""	MODY3, TCF1		1535333, 7795649	Standard	NM_000545		Approved	HNF1, LFB1	uc001tzg.3	P20823	OTTHUMG00000151015	ENST00000257555.6:c.1703C>T	12.37:g.121437365C>T	ENSP00000257555:p.Pro568Leu					HNF1A_ENST00000544413.1_Missense_Mutation_p.P575L|HNF1A_ENST00000541395.1_Missense_Mutation_p.P599L	p.P568L			P20823	HNF1A_HUMAN			9	1929	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		568					A5Z2R8|E0YMJ5|E0YMK0|E0YMK1|E2I9R4|E2I9R5|F5H5U3|Q2M3H2|Q99861	Missense_Mutation	SNP	ENST00000257555.6	37	c.1703C>T	CCDS9209.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.073371	0.55646	2.27E-4	0.0	ENSG00000135100	ENST00000257555;ENST00000535125;ENST00000537424;ENST00000543027;ENST00000541395;ENST00000544413	D;D;D	0.90844	-2.74;-2.74;-2.74	5.7	5.7	0.88788	Hepatocyte nuclear factor 1, alpha isoform C-terminal (1);	0.207712	0.33199	N	0.005175	T	0.81288	0.4791	N	0.19112	0.55	0.80722	D	1	B;B	0.34181	0.386;0.44	B;B	0.29077	0.059;0.098	T	0.78663	-0.2116	10	0.18276	T	0.48	-28.5995	12.4732	0.55799	0.178:0.822:0.0:0.0	.	575;568	F5H0K0;P20823	.;HNF1A_HUMAN	L	568;460;568;389;599;575	ENSP00000257555:P568L;ENSP00000443112:P599L;ENSP00000438804:P575L	ENSP00000257555:P568L	P	+	2	0	HNF1A	119921748	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.832000	0.48152	2.685000	0.91497	0.650000	0.86243	CCC		0.687	HNF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320957.5	NM_000545		14	15	14	15	---	---	---	---
CLIP1	6249	broad.mit.edu	37	12	122825728	122825728	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr12:122825728C>A	ENST00000540338.1	-	10	2064	c.2023G>T	c.(2023-2025)Gaa>Taa	p.E675*	CLIP1_ENST00000545889.1_Nonsense_Mutation_p.E365*|CLIP1_ENST00000537178.1_Nonsense_Mutation_p.E629*|CLIP1_ENST00000302528.7_Nonsense_Mutation_p.E664*|CLIP1_ENST00000358808.2_Nonsense_Mutation_p.E664*|CLIP1_ENST00000361654.4_Nonsense_Mutation_p.E629*			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	675					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.E664*(1)		NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TGCAAATTTTCTATTTCGTGT	0.388																																						ENST00000358808.2																			1	Substitution - Nonsense(1)	p.E664*(1)	prostate(1)	NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1990-1992)Gaa>Taa		CAP-GLY domain containing linker protein 1							138.0	143.0	142.0					12																	122825728		2203	4300	6503	SO:0001587	stop_gained	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122825728C>A		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.2023G>T	12.37:g.122825728C>A	ENSP00000439093:p.Glu675*					CLIP1_ENST00000537178.1_Nonsense_Mutation_p.E629*|CLIP1_ENST00000545889.1_Nonsense_Mutation_p.E365*|CLIP1_ENST00000540338.1_Nonsense_Mutation_p.E675*|CLIP1_ENST00000302528.7_Nonsense_Mutation_p.E664*|CLIP1_ENST00000361654.4_Nonsense_Mutation_p.E629*	p.E664*	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	10	2144	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		675					A0AVD3|Q17RS4|Q29RG0	Nonsense_Mutation	SNP	ENST00000540338.1	37	c.1990G>T	CCDS58285.1	.	.	.	.	.	.	.	.	.	.	C	38	7.270435	0.98179	.	.	ENSG00000130779	ENST00000545889;ENST00000302528;ENST00000358808;ENST00000542885;ENST00000537178;ENST00000540338;ENST00000540304	.	.	.	5.5	4.61	0.57282	.	0.203872	0.49305	D	0.000143	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-10.3364	8.0875	0.30782	0.1306:0.7303:0.0:0.1391	.	.	.	.	X	365;664;664;509;629;675;598	.	ENSP00000303585:E664X	E	-	1	0	CLIP1	121391681	0.998000	0.40836	0.991000	0.47740	0.976000	0.68499	3.845000	0.55880	1.459000	0.47892	0.655000	0.94253	GAA		0.388	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		147	255	147	255	---	---	---	---
MTUS2	23281	broad.mit.edu	37	13	29599666	29599666	+	Silent	SNP	C	C	T	rs373502341		TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr13:29599666C>T	ENST00000431530.3	+	1	919	c.861C>T	c.(859-861)tcC>tcT	p.S287S		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	277						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)	p.S287S(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CATCACATTCCGCCCATCCAG	0.517																																						ENST00000431530.3																			2	Substitution - coding silent(2)	p.S287S(2)	prostate(1)|endometrium(1)	NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						c.(859-861)tcC>tcT		microtubule associated tumor suppressor candidate 2		C		0,4238		0,0,2119	42.0	43.0	43.0		861	-7.2	0.0	13		43	1,8485		0,1,4242	no	coding-synonymous	MTUS2	NM_001033602.2		0,1,6361	TT,TC,CC		0.0118,0.0,0.0079		287/1380	29599666	1,12723	2119	4243	6362	SO:0001819	synonymous_variant	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29599666C>T	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.861C>T	13.37:g.29599666C>T							p.S287S	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN			1	919	+			277					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Silent	SNP	ENST00000431530.3	37	c.861C>T	CCDS45022.1																																																																																				0.517	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		12	23	12	23	---	---	---	---
CHAMP1	283489	broad.mit.edu	37	13	115090481	115090481	+	Silent	SNP	G	G	A			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr13:115090481G>A	ENST00000361283.1	+	3	1473	c.1164G>A	c.(1162-1164)gaG>gaA	p.E388E		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	CHAP1_HUMAN	chromosome alignment maintaining phosphoprotein 1	388	Mediates interaction with MAD2L2.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|protein localization to kinetochore (GO:0034501)|protein localization to microtubule (GO:0035372)|sister chromatid biorientation (GO:0031134)	condensed chromosome (GO:0000793)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.E388E(1)									CATCTCCTGAGTCATGGAAGT	0.542																																						ENST00000361283.1																			1	Substitution - coding silent(1)	p.E388E(1)	prostate(1)								c.(1162-1164)gaG>gaA		chromosome alignment maintaining phosphoprotein 1							109.0	114.0	112.0					13																	115090481		2203	4300	6503	SO:0001819	synonymous_variant	283489				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding	g.chr13:115090481G>A	AK074894	CCDS9545.1	13q34	2013-01-07	2011-10-07	2011-10-07	ENSG00000198824	ENSG00000198824		"""Zinc fingers, C2H2-type"""	20311	protein-coding gene	gene with protein product	"""chromosome alignment-maintaining phosphoprotein"""		"""chromosome 13 open reading frame 8"", ""zinc finger protein 828"""	C13orf8, ZNF828		21063390	Standard	NM_032436		Approved	CAMP, CHAMP	uc010ahb.3	Q96JM3	OTTHUMG00000017404	ENST00000361283.1:c.1164G>A	13.37:g.115090481G>A							p.E388E	NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	ZN828_HUMAN			3	1473	+			388			Mediates interaction with MAD2L2.|Pro-rich.		B3KU06|Q6P181|Q8NC88|Q9BST0	Silent	SNP	ENST00000361283.1	37	c.1164G>A	CCDS9545.1																																																																																				0.542	CHAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045977.2	NM_032436		13	231	13	231	---	---	---	---
EFS	10278	broad.mit.edu	37	14	23828655	23828655	+	Silent	SNP	C	C	T			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr14:23828655C>T	ENST00000216733.3	-	4	1639	c.1032G>A	c.(1030-1032)ctG>ctA	p.L344L	RP11-124D2.3_ENST00000554010.1_RNA|EFS_ENST00000351354.3_Silent_p.L251L|EFS_ENST00000429593.2_Silent_p.L175L	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	344	Pro-rich.				cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)	p.L344L(1)		endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		CATAACCAGGCAGGCGGGGTG	0.687																																						ENST00000216733.3																			1	Substitution - coding silent(1)	p.L344L(1)	prostate(1)	endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16						c.(1030-1032)ctG>ctA		embryonal Fyn-associated substrate							39.0	38.0	39.0					14																	23828655		2031	4002	6033	SO:0001819	synonymous_variant	10278				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding	g.chr14:23828655C>T	AB001466	CCDS9595.1, CCDS9596.1, CCDS61404.1	14q11.2-q12	2011-04-13			ENSG00000100842	ENSG00000100842		"""Cas scaffolding proteins"""	16898	protein-coding gene	gene with protein product	"""Cas scaffolding protein family member 3"""	609906				9349509	Standard	NM_005864		Approved	EFS2, EFS1, HEFS, SIN, CASS3	uc001wjo.4	O43281	OTTHUMG00000028741	ENST00000216733.3:c.1032G>A	14.37:g.23828655C>T						EFS_ENST00000429593.2_Silent_p.L175L|EFS_ENST00000351354.3_Silent_p.L251L	p.L344L	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN		GBM - Glioblastoma multiforme(265;0.00649)	4	1639	-	all_cancers(95;7.12e-06)		344			Pro-rich.		B2RAJ7|B4DJ56|E9PGU2|O43282	Silent	SNP	ENST00000216733.3	37	c.1032G>A	CCDS9595.1																																																																																				0.687	EFS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071770.2			33	61	33	61	---	---	---	---
NOVA1	4857	broad.mit.edu	37	14	26917261	26917261	+	Silent	SNP	T	T	C			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr14:26917261T>C	ENST00000539517.2	-	5	1745	c.1428A>G	c.(1426-1428)ggA>ggG	p.G476G	NOVA1_ENST00000465357.2_Silent_p.G452G|NOVA1_ENST00000267422.7_Silent_p.G354G	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	479	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.G476G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		CAGCTGGTGTTCCAGTAATGG	0.458																																						ENST00000539517.2																			1	Substitution - coding silent(1)	p.G476G(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(1426-1428)ggA>ggG		neuro-oncological ventral antigen 1							152.0	130.0	137.0					14																	26917261		2203	4300	6503	SO:0001819	synonymous_variant	4857				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	g.chr14:26917261T>C	U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000539517.2:c.1428A>G	14.37:g.26917261T>C						NOVA1_ENST00000465357.2_Silent_p.G452G|NOVA1_ENST00000267422.7_Silent_p.G354G	p.G476G	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0135)	5	1745	-			479			KH 3.		A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Silent	SNP	ENST00000539517.2	37	c.1428A>G	CCDS32061.1																																																																																				0.458	NOVA1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000073261.3	NM_006491		50	90	50	90	---	---	---	---
DDX19B	11269	broad.mit.edu	37	16	70363960	70363960	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr16:70363960A>G	ENST00000288071.6	+	9	1257	c.1012A>G	c.(1012-1014)Atc>Gtc	p.I338V	DDX19B_ENST00000393657.2_Missense_Mutation_p.I229V|RP11-529K1.2_ENST00000562077.1_RNA|DDX19B_ENST00000568625.1_Missense_Mutation_p.I229V|DDX19B_ENST00000563392.1_Missense_Mutation_p.I229V|DDX19B_ENST00000563206.1_Missense_Mutation_p.I343V|RP11-529K1.3_ENST00000567706.1_Intron|DDX19B_ENST00000355992.3_Missense_Mutation_p.I307V|DDX19B_ENST00000451014.3_Missense_Mutation_p.I312V	NM_007242.5	NP_009173.1	Q9UMR2	DD19B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B	338	C-terminal lobe.|Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)	p.I338V(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9		Ovarian(137;0.0694)				TCAAGCCATGATCTTCTGCCA	0.592																																					Esophageal Squamous(26;382 757 1343 9728 15939)	ENST00000288071.6																			1	Substitution - Missense(1)	p.I338V(1)	prostate(1)	cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9						c.(1012-1014)Atc>Gtc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B							156.0	127.0	137.0					16																	70363960		2198	4300	6498	SO:0001583	missense	11269				mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr16:70363960A>G	AJ237946	CCDS10888.1, CCDS32475.1, CCDS42187.1, CCDS58478.1	16q22.3	2012-02-23	2012-02-23	2005-07-13	ENSG00000157349	ENSG00000157349		"""DEAD-boxes"""	2742	protein-coding gene	gene with protein product		605812	"""DEAD (Asp-Glu-Ala-As) box polypeptide 19"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 19 (Dbp5, yeast, homolog)"""	DDX19		10428971	Standard	NM_007242		Approved	DBP5	uc002eyo.4	Q9UMR2	OTTHUMG00000137577	ENST00000288071.6:c.1012A>G	16.37:g.70363960A>G	ENSP00000288071:p.Ile338Val					DDX19B_ENST00000355992.3_Missense_Mutation_p.I307V|RP11-529K1.3_ENST00000567706.1_Intron|DDX19B_ENST00000563206.1_Missense_Mutation_p.I343V|RP11-529K1.2_ENST00000562077.1_RNA|DDX19B_ENST00000451014.3_Missense_Mutation_p.I312V|DDX19B_ENST00000568625.1_Missense_Mutation_p.I229V|DDX19B_ENST00000393657.2_Missense_Mutation_p.I229V|DDX19B_ENST00000563392.1_Missense_Mutation_p.I229V	p.I338V	NM_007242.5	NP_009173.1	Q9UMR2	DD19B_HUMAN			9	1257	+		Ovarian(137;0.0694)	338			Helicase C-terminal.		B3KNE9|B4DXS6|E7EMK4|Q6FIB7|Q6IAE0|Q96KE7|Q9H0U0	Missense_Mutation	SNP	ENST00000288071.6	37	c.1012A>G	CCDS10888.1	.	.	.	.	.	.	.	.	.	.	A	16.02	3.004473	0.54254	.	.	ENSG00000157349	ENST00000451014;ENST00000355992;ENST00000393657;ENST00000288071	T;T;T;T	0.04360	3.64;3.64;3.64;3.64	5.19	5.19	0.71726	Helicase, C-terminal (1);	0.048613	0.85682	D	0.000000	T	0.05640	0.0148	L	0.33293	1	0.80722	D	1	B;B;B	0.12630	0.006;0.0;0.002	B;B;B	0.19946	0.027;0.001;0.005	T	0.29518	-1.0009	10	0.56958	D	0.05	-10.709	13.0428	0.58910	1.0:0.0:0.0:0.0	.	312;307;338	E7EMK4;Q9UMR2-2;Q9UMR2	.;.;DD19B_HUMAN	V	312;307;229;338	ENSP00000392639:I312V;ENSP00000348271:I307V;ENSP00000377267:I229V;ENSP00000288071:I338V	ENSP00000288071:I338V	I	+	1	0	DDX19B	68921461	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.801000	0.62532	2.192000	0.70111	0.496000	0.49642	ATC		0.592	DDX19B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268965.3	NM_007242		11	150	11	150	---	---	---	---
CNDP1	84735	broad.mit.edu	37	18	72228208	72228208	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr18:72228208G>A	ENST00000358821.3	+	4	649	c.421G>A	c.(421-423)Ggc>Agc	p.G141S	CNDP1_ENST00000585136.1_Intron|RP11-231E4.3_ENST00000583702.1_RNA|CNDP1_ENST00000582365.1_Missense_Mutation_p.G98S	NM_032649.5	NP_116038	Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	141						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)	p.G141S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		TGCTGACCGGGGCGATGGGTG	0.622																																					Melanoma(32;1029 1042 25286 38395 44237)	ENST00000582365.1																			1	Substitution - Missense(1)	p.G141S(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(292-294)Ggc>Agc		carnosine dipeptidase 1 (metallopeptidase M20 family)							88.0	85.0	86.0					18																	72228208		2203	4300	6503	SO:0001583	missense	84735				proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity	g.chr18:72228208G>A		CCDS12007.1	18q22.3	2014-07-14			ENSG00000150656	ENSG00000150656	3.4.13.20		20675	protein-coding gene	gene with protein product	"""carnosinase 1"", ""glutamate carboxypeptidase-like protein 2"""	609064				12473676	Standard	NM_032649		Approved	MGC10825, CN1, CPGL2, HsT2308	uc002llq.3	Q96KN2	OTTHUMG00000132852	ENST00000358821.3:c.421G>A	18.37:g.72228208G>A	ENSP00000351682:p.Gly141Ser					CNDP1_ENST00000585136.1_Intron|CNDP1_ENST00000358821.3_Missense_Mutation_p.G141S	p.G98S			Q96KN2	CNDP1_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.109)	3	358	+		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)	141					Q14D40|Q17S05|Q2TBG0|Q6UWK2|Q9BT98	Missense_Mutation	SNP	ENST00000358821.3	37	c.292G>A	CCDS12007.1	.	.	.	.	.	.	.	.	.	.	G	7.341	0.620983	0.14193	.	.	ENSG00000150656	ENST00000358821	T	0.48522	0.81	4.78	4.78	0.61160	.	0.245546	0.39909	N	0.001226	T	0.34542	0.0901	L	0.37561	1.115	0.09310	N	1	B	0.09022	0.002	B	0.12837	0.008	T	0.11941	-1.0567	10	0.31617	T	0.26	-0.7162	7.8601	0.29506	0.0871:0.1643:0.7486:0.0	.	141	Q96KN2	CNDP1_HUMAN	S	141	ENSP00000351682:G141S	ENSP00000351682:G141S	G	+	1	0	CNDP1	70379188	0.932000	0.31603	0.013000	0.15412	0.002000	0.02628	4.223000	0.58587	2.203000	0.70933	0.655000	0.94253	GGC		0.622	CNDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256326.1	NM_032649		87	132	87	132	---	---	---	---
GPATCH1	55094	broad.mit.edu	37	19	33603475	33603475	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr19:33603475C>A	ENST00000170564.2	+	13	2162	c.1848C>A	c.(1846-1848)gaC>gaA	p.D616E		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	616					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)	p.D616E(1)		breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					GGCACCCTGACAAGCTTCTAT	0.413																																					Pancreas(67;88 1713 4567 18227)	ENST00000170564.2																			1	Substitution - Missense(1)	p.D616E(1)	prostate(1)	breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40						c.(1846-1848)gaC>gaA		G patch domain containing 1							152.0	136.0	142.0					19																	33603475		2203	4300	6503	SO:0001583	missense	55094					catalytic step 2 spliceosome	nucleic acid binding	g.chr19:33603475C>A	AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"""G patch domain containing"""	24658	protein-coding gene	gene with protein product	"""evolutionarily conserved G patch domain containing"""			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.1848C>A	19.37:g.33603475C>A	ENSP00000170564:p.Asp616Glu						p.D616E	NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN			13	2162	+	Esophageal squamous(110;0.137)		616					Q8IZV6|Q8N3B7|Q9NW94	Missense_Mutation	SNP	ENST00000170564.2	37	c.1848C>A	CCDS12428.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.244556	0.39697	.	.	ENSG00000076650	ENST00000170564	T	0.34859	1.34	5.62	3.41	0.39046	.	0.181326	0.56097	D	0.000025	T	0.18882	0.0453	L	0.33093	0.98	0.80722	D	1	B	0.30542	0.284	B	0.25291	0.059	T	0.05321	-1.0892	10	0.06757	T	0.87	-27.0723	6.2077	0.20612	0.2838:0.5882:0.0:0.1279	.	616	Q9BRR8	GPTC1_HUMAN	E	616	ENSP00000170564:D616E	ENSP00000170564:D616E	D	+	3	2	GPATCH1	38295315	0.992000	0.36948	1.000000	0.80357	0.939000	0.58152	0.234000	0.17930	2.640000	0.89533	0.655000	0.94253	GAC		0.413	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1	NM_018025		44	85	44	85	---	---	---	---
ZNF223	7766	broad.mit.edu	37	19	44564709	44564709	+	Silent	SNP	G	G	A			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr19:44564709G>A	ENST00000434772.3	+	3	372	c.117G>A	c.(115-117)gaG>gaA	p.E39E	ZNF223_ENST00000591793.1_Silent_p.E149E|ZNF223_ENST00000585552.1_Silent_p.E39E|ZNF223_ENST00000588518.1_Intron	NM_013361.4	NP_037493.3	Q9UK11	ZN223_HUMAN	zinc finger protein 223	39	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)	p.E39E(1)		endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				TGATGCTGGAGAACTTCAGGA	0.532																																						ENST00000591793.1																			1	Substitution - coding silent(1)	p.E39E(1)	prostate(1)	endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(445-447)gaG>gaA		zinc finger protein 223							230.0	212.0	218.0					19																	44564709		2203	4300	6503	SO:0001819	synonymous_variant	7766				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44564709G>A	AF187989	CCDS12635.1	19q13.2	2013-01-08				ENSG00000178386		"""Zinc fingers, C2H2-type"", ""-"""	13016	protein-coding gene	gene with protein product							Standard	XM_006723365		Approved		uc002oyf.1	Q9UK11		ENST00000434772.3:c.117G>A	19.37:g.44564709G>A						ZNF223_ENST00000588518.1_Intron|ZNF223_ENST00000434772.3_Silent_p.E39E|ZNF223_ENST00000585552.1_Silent_p.E39E	p.E149E			Q9UK11	ZN223_HUMAN			5	530	+		Prostate(69;0.0352)	39					Q15736|Q8TBJ3|Q9HCA9	Silent	SNP	ENST00000434772.3	37	c.447G>A	CCDS12635.1																																																																																				0.532	ZNF223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460469.2			97	191	97	191	---	---	---	---
NLRP5	126206	broad.mit.edu	37	19	56539873	56539873	+	Silent	SNP	A	A	G			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr19:56539873A>G	ENST00000390649.3	+	7	2274	c.2274A>G	c.(2272-2274)ctA>ctG	p.L758L		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	758					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)	p.L758L(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TGGTCCCTCTATGGTGAGTAC	0.527																																						ENST00000390649.3																			2	Substitution - coding silent(2)	p.L758L(2)	prostate(1)|lung(1)	breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25						c.(2272-2274)ctA>ctG		NLR family, pyrin domain containing 5							127.0	127.0	127.0					19																	56539873		2008	4186	6194	SO:0001819	synonymous_variant	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56539873A>G	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.2274A>G	19.37:g.56539873A>G							p.L758L	NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	7	2274	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	758					A8MTY4|Q86W29	Silent	SNP	ENST00000390649.3	37	c.2274A>G	CCDS12938.1																																																																																				0.527	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		8	346	8	346	---	---	---	---
CHD6	84181	broad.mit.edu	37	20	40162157	40162157	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr20:40162157T>C	ENST00000373233.3	-	3	263	c.86A>G	c.(85-87)aAt>aGt	p.N29S	CHD6_ENST00000373222.3_Missense_Mutation_p.N64S|CHD6_ENST00000309279.7_Missense_Mutation_p.N29S	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	29	Required for DNA-dependent ATPase activity.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)	p.N29S(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GTAGTCAAAATTGACAGAGGC	0.388																																						ENST00000373233.3																			1	Substitution - Missense(1)	p.N29S(1)	prostate(1)	breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(85-87)aAt>aGt		chromodomain helicase DNA binding protein 6							59.0	59.0	59.0					20																	40162157		2203	4300	6503	SO:0001583	missense	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40162157T>C	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.86A>G	20.37:g.40162157T>C	ENSP00000362330:p.Asn29Ser					CHD6_ENST00000373222.3_Missense_Mutation_p.N64S|CHD6_ENST00000309279.7_Missense_Mutation_p.N29S	p.N29S	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			3	263	-		Myeloproliferative disorder(115;0.00425)	29					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.86A>G	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	T	11.93	1.784554	0.31593	.	.	ENSG00000124177	ENST00000373233;ENST00000309279;ENST00000373222;ENST00000440647	D;D;T	0.94457	-1.93;-3.43;-1.28	5.9	3.62	0.41486	.	0.299907	0.28927	N	0.013687	D	0.86802	0.6020	N	0.19112	0.55	0.28316	N	0.922455	B;B	0.29988	0.264;0.009	B;B	0.28011	0.085;0.006	T	0.74166	-0.3753	10	0.06757	T	0.87	-16.3239	12.3986	0.55399	0.0:0.0:0.5539:0.446	.	64;29	Q8TD26-2;Q8TD26	.;CHD6_HUMAN	S	29;29;64;29	ENSP00000362330:N29S;ENSP00000308684:N29S;ENSP00000362319:N64S	ENSP00000308684:N29S	N	-	2	0	CHD6	39595571	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.810000	0.27183	1.035000	0.39972	0.533000	0.62120	AAT		0.388	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			80	101	80	101	---	---	---	---
ESCO1	114799	broad.mit.edu	37	18	19153404	19153406	+	In_Frame_Del	DEL	ATC	ATC	-	rs557869178		TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr18:19153404_19153406delATC	ENST00000269214.5	-	4	2336_2338	c.1399_1401delGAT	c.(1399-1401)gatdel	p.D467del		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	467					mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)|sister chromatid cohesion (GO:0007062)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|transferase activity, transferring acyl groups (GO:0016746)			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						CTACTGTAATATCATTAATTTTC	0.33																																						ENST00000269214.5																			0				breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(1399-1401)gatdel		establishment of sister chromatid cohesion N-acetyltransferase 1																																				SO:0001651	inframe_deletion	114799				cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	g.chr18:19153404_19153406delATC	AL832041	CCDS32800.1	18q11.2	2013-05-02	2013-05-02		ENSG00000141446	ENSG00000141446			24645	protein-coding gene	gene with protein product		609674	"""establishment of cohesion 1 homolog 1 (S. cerevisiae)"""			11572484, 14576321, 15958495	Standard	NM_052911		Approved	ESO1, EFO1, KIAA1911	uc002kth.1	Q5FWF5		ENST00000269214.5:c.1399_1401delGAT	18.37:g.19153404_19153406delATC	ENSP00000269214:p.Asp467del						p.D467del	NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN			4	2336_2338	-			467					B0YJ11|B0YJ12|Q69YG4|Q69YS3|Q6IMD7|Q8N3Z5|Q8NBG2|Q96PX7	In_Frame_Del	DEL	ENST00000269214.5	37	c.1399_1401delGAT	CCDS32800.1																																																																																				0.330	ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443942.1	NM_052911		57	126	57	126	---	---	---	---
